CHILD'S HEALTH 3 - Haem, Genetics, MSK, Neonatal

Question 1

Name some common causes of anemia in infancy/neonate. What is the most common?

Answer 1

Physiologic anaemia of infancy causes most cases of anaemia in infancy.

The other causes of anaemia in infants are:

Anaemia of prematurity
Blood loss
Anaemia due to Haemolysis
Twin-twin transfusion, where blood is unequally distributed between twins that share a placenta

Question 2

Name some hemolytic causes of anemia in neonates

Answer 2

Haemolytic disease of the newborn (ABO or rhesus incompatibility)
Hereditary spherocytosis
G6PD deficiency

Question 3

Outline what happens in Physiologic Anaemia of Infancy

Answer 3

Happens around 6-9 weeks of age

High oxygen delivery to the tissues caused by the high hemoglobin levels at birth causes negative feedback.

==> Production of erythropoietin is suppressed ==> = reduced production of haemoglobin by the bone marrow.

Also due to: plasma dilution associated with increasing blood volume
– shorter life span on neonatal RBCs (50-70 days)

Question 4

What causes Anaemia of prematurity

Answer 4

Less time in utero receiving iron from the mother
Red blood cell creation cannot keep up with the rapid growth in the first few weeks
Reduced erythropoietin levels
Blood tests remove a significant portion of their circulating volume

Protein content of breast milk may not be sufficient for
hematopoiesis in the premature infant

Question 5

Outline what happens in hemolytic disease of the newborn (also known as Erythroblastosis fetalis)

Answer 5

Happens when rhesus anitgens on surface of mother and foetus RBC aren’t compatabile

If mother is rhesus D negative, and fetus is Rhesus D postive, foetal blood can cross placenta and enter mothers bloodstream
==> Mother will recognise the rhesus D antigen as foreign and produce antibodies to it ==> (mother becomes sensitised to rhesus D antigens)

Usually not a problem in inital pregnacy
If pregnant again, mothers anti-D antibodies can cross the placenta.

If that fetus is rhesus positive, these antibodies attach themselves to the red blood cells of the fetus and causes the immune system of the fetus to attack its own red blood cells

Question 6

To who and why would you give anti-D prophyalxis ?

Answer 6

To Rhesus D negative mothers who are not sensitised.

The aim of this prophylaxis is to prevent RhD alloimmunisation, which could lead to future pregnancies being affected by HDFN.

if already sensitised -, anti-D prophylaxis would be ineffective as the immune response has already been triggered. These patients would require close monitoring and possible interventions to prevent HDFN.

Question 7

what events would make you want to give anti D prophylaxis to rhesus negative mothers? (w a foetus who is rhesus d positive)

Answer 7

Rh-negative pregnant women, in these scenarios:
Routine Prophylaxis:
At 28 weeks of pregnancy.

Within 72 hours of delivery if the baby is Rh-positive.

After Potential Fetal-Maternal Bleeding Events:
Miscarriage, abortion, ectopic pregnancy, or molar pregnancy.
Invasive procedures like amniocentesis or chorionic villus sampling.
Trauma to the abdomen or antepartum hemorrhage.

Question 8

What is the treatment for haemolytic disease of the newborn?

Answer 8

Phototherapy – Expose to ultraviolet light, converts unconjugated bilirubin to a conjugated form that is easier for the infant to clear.

Immunoglobulin therapy

Question 9

What are the causes of Microcytic anaemia?

Answer 9

A helpful mnemonic for understanding the causes of microcytic anaemia is TAILS.

T – Thalassaemia
A – Anaemia of chronic disease
I – Iron deficiency anaemia
L – Lead poisoning
S – Sideroblastic anaemia

Question 10

Anaemia caused by iron deficiency is the most common cause of anaemia worldwide. - What are some causes of it?

Answer 10

• Vegetarian/ vegan diet -
  Low birth weight
  During infancy and puberty when you are growing loads
  dietary- excessive cows milk intake, occult GI bleeding (eg Hookworm)
• Inflammatory bowel disease/Coeliac impairs iron absorption
• Certain drugs e.g. PPIs inhibit gastric acid, so non haem cannot be absorbed as it is not converted into haem iron
  Heavy menstruation

Question 11

What happens to RBC production as a result of iron deficiency?

Answer 11

Leads to impaired haemoglobin production.

Since there’s not enough haemoglobin for a normal sized RBC, the bone marrow starts pumping out microcytic RBCs. - these have less Haemoglobin so are called hypochromic, as appear pale

Microcytic RBCs can’t carry enough oxygen to the tissues - hypoxia.
Hypoxia signals the bone marrow to increase RBC production.
The bone marrow goes into overdrive and pumps out incompletely formed RBCs.

Question 12

What are some signs of iron deficiency anaemia?

Answer 12

○ Pallor
○ Conjunctival pallor
○ Glossitis inflammation of the tongue
○ Koilonychia (spoon-shaped nails)
○ Angular stomatitis sored on the corners of the mouth

Question 13

What are some symptoms of iron deficiency anaemia?

Answer 13

• Symptoms
  ○ Fatigue
  ○ Dyspnoea
  ○ Dizziness
  ○ Headache
  ○ Nausea
  ○ Bowel disturbance
  ○ Hairloss
  ○ Pica (abnormal cravings)
  ○ Possible exacerbation of cardiovascular co-morbidities causing angina, palpitations, and intermittent claudication.

Question 14

What investigations would you do in suspected iron deficiency anaemia?

Answer 14

FBC blood count - look for low Hb, Low MCV, Low MCHC

Iron Studies - looking at:

• serum iron,
• serum ferritin,
• total iron binding capacity,
• transferrin saturation

Question 15

What would someone with iron deficiency anaemia’s iron studies (serum iron, serum ferritin, total iron binding capacity, and transferrin saturation) look like?

Answer 15

○ Serum iron - low
○ Serum ferritin: low in anaemia
○ Total iron binding capacity: can be used as a marker for how much transferrin is in the blood. Increased in anaemia
○ Transferrin saturation: gives a good indication of the total iron in the body. Decreased in anaemia

Note - ferritin is an acute phase protein, so can also increase with inflammation (i.e. due to infection/malignancy)

Question 16

What are the management options of iron deficiency anaemia?

Answer 16

• Treat the underlying cause
• Oral iron supplements: ferrous sulphate or ferrous fumarate
  ○ Side effects: constipation and black coloured stools, diarrhoea, nausea and dyspepsia/epigastric discomfort.
• Iron infusion e.g. cosmofer
• Blood transfusions may be needed in severe cases

Question 17

What is
a) Alpha Thalassaemia?
b) Beta Thalassaemia?

What is it’s genetic pattern, autosomal or sex linked, dominant or recessive?

Answer 17

Alpha Thalassaemia - genetic disorder where there’s a deficiency in production of the alpha globin chains of haemoglobin

Beta thalassaemia - is a genetic disorder where there’s a deficiency in the production of the β-globin chains of haemoglobin.

BOTH AUTOSOMAL RECESSIVE

Question 18

Alpha thalassaemia - How many alleles, are responsible for alpha chain synthesis?
What does someone with one gene deletion experience?
What would someone with 2 gene deletions experience?

Answer 18

4 alleles, on chromosome 16

One gene deletion does not cause symptoms of alpha thalassaemia.
2 gene deletion - mildly anaemic with near-normal haemoglobin electrophoresis.

Question 19

Alpha thalassaemia -
What would someone with 3 gene deletions experience, what do the beta chains form?

Answer 19

3 gene deletions are unable to form alpha chains. The beta chains form tetramers (HbH), which damage erythrocytes causing moderate to severe disease

Question 20

Alpha thalassaemia -
What would someone with 4 gene deletions experience, what do the beta chains form?

Answer 20

4 gene deletions die in utero because the gamma chains form tetramers (Hb Barts), which cannot carry oxygen efficiently

Question 21

What are the three types of beta thalassaemia?

Answer 21

The genes defect can either consist of abnormal copies that retain some function or deletion genes where there is no function in the beta-globin protein at all. Based on this, beta-thalassaemia can be split into three types:

Thalassaemia minor
Thalassaemia intermedia
Thalassaemia major

Question 22

Beta Thalassaemia - what is seen in Thalassaemia minor - what would a patient with this experience?

Answer 22

Patients with beta thalassaemia minor are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene.

Thalassaemia minor causes a mild microcytic anaemia and usually patients only require monitoring and no active treatment.

Question 23

Beta Thalassaemia - what is seen in Thalassaemia intermeida - what would a patient with this experience?

Answer 23

Patients with beta thalassaemia intermedia have two abnormal copies of the beta-globin gene. This can be either two defective genes or one defective gene and one deletion gene.

Thalassaemia intermedica causes a more significant microcytic anaemia

Question 24

Beta Thalassaemia - what is seen in Thalassaemia major - what would a patient with this experience?

Answer 24

Patients with beta thalassaemia major are homozygous for the deletion genes. They have no functioning beta-globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.

Thalassaemia major causes:

Severe microcytic anaemia
Splenomegaly
Bone deformities

Question 25

What are the investigations for suspected Alpha and Beta Thalassaemia?

Answer 25

***Blood film*** – will show **hypochromic and microcytic anaemia, target cells visible on film Irregular and pale RBCs** FBC - Increased reticulocytes and nucleated RBCs in peripheral circulation - *known as reticulocytosis* Lab work may also show high serum iron, high ferritin, and a high transferrin saturation level. Hb electrophoresis – Skull XR – hair on end sign, enlarged maxilla

Question 26

What is the management for thalassaemia?

Answer 26

Depends on severity of the symptoms!! - **Regular blood transfusions**: may be required and will be guided by the Hb level. - **Iron chelation:** desferrioxamine acts as an iron chelator and can be given to treat or prevent iron overload in patients with regular transfusions - **Folate supplementation:** haemolysis leads to increased cell turnover and a state of folate deficiency - **Splenectomy:** - **Stem cell transplantation:** the only **curative** option recommended in those with severe disease

Question 27

Management of Thalassaemia - what is iron chelation? Why would patients with thalassaemia may need a splenectomy?

Answer 27

Iron chelation **DEFEREOXAMINE** - *(used to remove iron in the body)* - It's used to treat thalassemia because people with the disorder tend to accumulate excess iron in their bodies. The iron can build up in vital organs and lead to organ damage.  Because thalassaemia can lead to **splenomeglay due to extramedullary erythropoiesis. *Can lead to Hypersplenism*

Question 28

What happens in Sideroblastic anaemia?

Answer 28

Sideroblastic anaemia, , is a form of anaemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes), so body can't carry enough O2. This is because it cannot incorporate iron into the haemoglobin due to vitamin B6 deficiency

Question 29

What does a low reticulocyte count indicate?

Answer 29

A production problem e.g. infection, renal disease, drugs, marrow failure/infiltration

Question 30

What does a high reticulocyte count indicate?

Answer 30

A degradation problem e.g. bleeding or haemolysis.

Question 31

Define what sickle cell anaemia is

Answer 31

Sickle cell anaemia is an **autosomal recessive mutation in the beta chain** of haemoglobin, resulting in sickling of red blood cells (RBCs) and haemolysis.

Question 32

Outline the pathophysiology behind sickle cell anaemia - what type of haemoglobin do sickle cell patients have instead?

Answer 32

Sickle cell trait patient will have **reduced levels of HbA**, Sickle cell disease patients have **no HbA, and instead have abnormal HbS,** which is made of *2 alpha chains and 2 abnormal beta chains.*

Question 33

Outline the pathophysiology behind sickle cell anaemia - name some of the characteristics of HbS

Answer 33

- HbS is prone to sickling and haemolysis. - HbS carries oxygen well **But when deoxygenated,** ***HbS changes its shape, and clumps with other HbS proteins, causing the RBC to turn into a crescent shape***

Question 34

Outline the pathophysiology behind sickle cell anaemia - what happens to repeated sickling of RBCs in sickle cell anaemia, and what does this lead to?

Answer 34

- Repeated sickling of red blood cells damages their cell membranes and promotes premature destruction - haemolysis This destruction of red blood cells **leads to anaemia and more free haemoglobin in the blood.** Free haemoglobin in the blood in the plasma is bound by haptoglobin and gets recycled; **==>** *a low haptoglobin level is a sign of intravascular haemolysis.*

Question 35

In order to counteract anaemia, in sickle cell disease, what does the bone marrow do?

Answer 35

To counteract the anaemia of sickle cell disease, the bone marrow makes **increased numbers of reticulocytes**. This can cause the bones to enlarge. Extramedullary hematopoiesis can also happen - leading to splenomegaly.

Question 36

What investigations would you do in haemolytic diseases?

Answer 36

FBC Reticsulcyte - high BLood fil,m LDH - Lactae Dehydrgonagse Low Haptoglobin (what free haem binds to, so it gets used up) Direct Coombs test - looks for antibodies for red blood cell

Question 37

What is more likely to happen with Sickled blood cells compared to normal? What will this lead to?

Answer 37

Sickled RBCs can get stuck in capillaries, known as **vaso-occlusion.** This can lead to vaso-occlusive crisis causing symptoms e.g. dactylitis *(inflammation in finger or toe)*, priapism *(long lasting painful erection)*, acute chest syndrome, stroke, depending on where the occlusion is.

Question 38

Name some triggers that will cause sickling in Sickle disease/trait

Answer 38

dehydration, acidosis, infection, and hypoxia ***sickle cell disease patients will sickle sooner than sickle cell trait patients!*** HbAS (trait) patients sickle at PaO2 2.5 - 4 kPa, whilst HbSS (disease) patients at PaO2 5 - 6 kPa.

Question 39

What are some chronic symptoms of sickle cell anaemia?

Answer 39

- **Chronic symptoms:** - Pain - Related to anaemia: fatigue, dizziness, palpitations - Related to haemolysis: **jaundice, and gallstones**

Question 40

Sickle cell crisis - What are some of the crisis' that can happen, that will lead to acute symptoms?

Answer 40

Splenic Sequestration crisis - affects Spleen *splenic vaso-occlusion causes a large percentage of total blood volume to become trapped within the spleen. = shock* Aplastic crisis - affects bone Vaso-occlusive crisis - can affect bone, lungs, CNS, genitalia eg Acute Chest Syndrome Acute chest syndrome occurs when the vessels supplying the lungs become clogged with red blood cells. Acute chest syndrome presents with fever, shortness of breath, chest pain, cough and hypoxia.

Question 41

What can these sickle cell crisis be brought on by?

Answer 41

They can occur spontaneously or be triggered by stresses such as infection, dehydration, cold or significant life events.

Question 42

Sickle Cell Crisis - what is seen in a **Aplastic crisis**? What commonly causes the infection?

Answer 42

Severely reduced production of red blood cells due to bone marrow failure. temporary loss of the creation of new blood cells. This is most commonly triggered by infection with **parvovirus B19**, effecting the **Bone marrow**

Question 43

What is the basic management seen in sickle cell crisis?

Answer 43

There is no specific treatment for sickle cell crises and they are managed supportively: Have a low threshold for admission to hospital Treat any infection Keep warm Keep well hydrated (IV fluids may be required) Simple analgesia such as paracetamol and ibuprofen Penile aspiration in priapism **Blood transfusion in anaemic cases** NIV/Breathing assistance in Acute Chest syndrome Splenectomy in Splenic Sequestration Crisis NSAIDs such as ibuprofen should be avoided where there is renal impairment.

Question 44

What are the primary investigations to do for suspected sickle cell anaemia? What confirms a diagnosis of sickle cell disease?

Answer 44

Screen neonates – blood/heel prick test FBC: Low Hb, High reticulocyte count Blood film – sickled erythrocytes Hb electrophoresis for differential diagnosis – **Hb SS present and absent Hb A confirms diagnosis of sickle cell disease**

Question 45

What is some of the ongoing management for sickle cell anaemia?

Answer 45

Supportive **Folic acid** Aggressive analgesia i.e. opiates Treat underlying cause e.g. antibiotics Fluids Disease modifying **Hydroxycarbamide/hydroxyurea** – increases HbF concentrations if frequent crises Transfusion Stem cell transplant . A lot of people with Sickle Cell disease will be on prophylactic penicillin as the vast majority will have had a splenectomy.

Question 46

What is aplastic anaemia? How does it present?

Answer 46

Bone marrow failure (also known as aplastic anaemia) is a rare condition characterised by a reduction or absence of all three main lineages in the bone marrow leading to peripheral blood pancytopenia. The clinical presentation is with: * anaemia due to reduced red cell numbers * infection due to reduced white cell numbers (especially neutrophils) * bruising and bleeding due to thrombocytopenia

Question 47

What is the most common inherited form of aplastic anaemia? What type of anaemia is it?

Answer 47

Fanconi anemia - an autosomal recessive genetic condition where 90% develop aplastic anemia. It is a type of macrocytic anaemia

Question 48

What is the typical presentation of faconi anaemia? What is the treatment for it?

Answer 48

The majority of children have congenital anomalies, including short stature, abnormal radii and thumbs, renal malformations, microphthalmia, and pigmented skin lesions. Treatment is bone marrow transplantation

Question 49

What are two coagulation tests you can do in thrombus formation?

Answer 49

aPTT - activated partial thromboplastin time PT - Prothrombin time

Question 50

For both coagulation tests, what pathway does aPTT measure, and what factors does it look at?

Answer 50

aPTT - activated prothrombin time measures intrinsic pathway - (FACTORS 12, 11, 9, 8,), and the common pathway 10, 5, 2 (prothrombin) and 1 (fibrinogen) Think aP**TT** - (TT - table tennis = indoors = intrinsic)

Question 51

For both coagulation tests, what pathway does PT measure, and what factors does it look at?

Answer 51

PT - Prothrombin time EXTRINSIC AND COMMON measures extrinsic pathway (factors 3 and 7) and then common pathway factors 10, 5, 2 (prothrombin) and 1 (fibrinogen) (T - tennis - outdoors )

Question 52

What is haemophilia?

Answer 52

Haemophilia A and haemophilia B are inherited severe bleeding disorders. Both causes by a deficiency in clotting factors

Question 53

What clotting factor is deficient in Haemophilia A?

Answer 53

Haemophilia A is caused by a deficiency in **factor VIII.**

Question 54

What clotting factor is deficient in Haemophilia B?

Answer 54

Haemophilia B (also known as Christmas disease) is caused by a deficiency in **factor IX**

Question 55

Haemophilia can either be inherited or acquired - (X-linked condition so all male) - What are some of the causes of acquired haemophilia?

Answer 55

Inherited (X-linked condition so all male) Acquired, Liver failure, vitamin K deficiency, autoimmunity against clotting factor, Disseminated intravascular coagulation

Question 56

What are the symptoms of haemophilia?

Answer 56

Abnormal bleeding Excessive bleeding Easy bruising Spontaneous haemorrhage - depending on serverity of haemophillia Haematomas: collections of blood outside the blood vessels Hemarthrosis: **bleeding into joint** ==> extensive **bruising and painful, swollen right knee joint**, meaning pt are now reluctant to move it.

Question 57

Where would be common places for bleeding to occur in haemophilia

Answer 57

Gums Gastrointestinal tract Urinary tract causing haematuria Retroperitoneal space Intracranial

Question 58

What would the main investigations be for haemophilia?

Answer 58

activated partial thromboplastin time (aPTT) would be increased - INTRINSIC PATHWAY Diagnosis is based on bleeding scores, coagulation factor assays and genetic testing.

Question 59

What is the management for haemophilia?

Answer 59

Infusions of deficient factor **Desmopressin to stimulate the release of vWF factor** Antifibrinolytics e.g., tranexamic acid Emicizumab - mococlonal antibodies links clotting factors 9 and 10 together (basically synthietc clotting factor 8)

Question 60

Does Haemophilia affect bleeding time?

Answer 60

Haemophilia does not affect bleeding time Haemophilia is a disorder of secondary haemostasis and does not affect platelets. Therefore bleeding time, a measure of primary haemostasis, is usually normal in haemophilia. *Bleed time test helps identify any disorder associated with the functioning of the platelets. Clotting time is the measure of the time taken in the formation of a clot after the bleeding has started.*

Question 61

Outline Von Willebrand disease.

Answer 61

Most common hereditary coagulopathy Can be congenital or acquired Also called pseudohaemophilia Caused by von Willebrand factor deficiency This assists platelet plug formation vWF binds to factor VIII preventing clearance from plasma More common in females Willebrand = Women too (whereas only boys in Haemophillia)

Question 62

What are some key clinical manifestations of VWF disease?

Answer 62

- **Easy, prolonged or heavy bleeding e.g.** - **Bleeding gums with brushing** - **Nose bleeds (epistaxis)** - **Heavy menstrual bleeding (menorrhagia)** - **Heavy bleeding during surgical operations** Easy bruising

Question 63

What investigations do you need to do for suspected VWF and what would you see in them in order to make a diagnosis?

Answer 63

- **Platelets count:** usually normal except in type IIB - **Prothrombin time:** tests the extrinsic and common pathway and so is normal - **Activated partial thromboplastin time:** tests the intrinsic and common pathways, usually prolonged - **Measurement of vWF antigen** Factor VIII levels 🡪 can be decreased as vWF is not present to protect it ***FAMILY HISTORY IS VERY IMPORTANT IN VWF***

Question 64

What is the management for VWF disease?

Answer 64

Management is required either in response to major bleeding or trauma (to stop bleeding) or in preparation for operations (to prevent bleeding): - **Desmopressin:** can be used to stimulates the release of VWF - **VWF** can be infused - **Factor VIII** is often infused along with plasma-derived VWF - **Tranexamic Acid** - stops clots formed from breaking down

Question 65

What is Immune Thrombocytopaenic Purpura?

Answer 65

ITP is a condition where **antibodies are created against platelets**. This causes an immune response against platelets, resulting in the **destruction of platelets** and a low platelet count.

Question 66

Name some causes of Immune thrombocytopenic purpura.

Answer 66

- **Primary ITP:** when ITP occurs by itself - **Secondary ITP:** triggered by another condition e.g. hepatitis C, HIV, or lupus, malignancies

Question 67

Outline the pathophysiology behind Immune thrombocytopenic purpura.

Answer 67

**Autoanitbodies (mainly IgG)** bind to platelet receptor **Gp2B3A**, and target platelets for destruction in the spleen. Often triggered by viral infection or malignancy

Question 68

What are some symptoms of Immune thrombocytopaenia purpura?

Answer 68

Think - easy bleeding! - **Purpura** (red or purple spots on the skin caused by bleeding underneath skin) - **Petechiae** small, pinpoint spots on the skin - *like purpura but smaller* - **Easy bruising** - **Epistaxis** (nose bleed) - **Menorrhagia** (heavy menstruation) - **Gum bleeding** - **Major haemorrhage is rare** - **Splenomegaly is rare** ITP is correct - ITP is correct as it is a differential in any child presenting with petechiae and no fever and is usually preceded by a viral illness.

Question 69

What is the first line investigation you would do for suspected immune thrombocytopaenia purpura? What would you see?

Answer 69

FBC: **isolated low platelet count,** ***with a normal haematocrit and leukocyte count*** We need blood results to confirm the diagnosis but these typically present with isolated thrombocytopenia and this low platelet count causes the classic petechial rash.

Question 70

What other tests are key to carry out in suspected immune thrombocytopenic purpura?

Answer 70

BM examination/Blood film -- Could see **increased megakaryocytes** - **Platelet autoantibodies** (present in 60-70%) - not needed for diagnosis - **Abdominal ultrasound** can be done to rule out splenomegaly, and hepatitis C virus and HIV, since ITP is being triggered by those infections.

Question 71

What are the management options for immune thrombocytopenic purpura?

Answer 71

Treatment rarely required unless actively bleeding To treat active bleeding Prednisolone (steroids) -*low dose in chronic ITP patients* IV immunoglobulins Splenectomy Secondary ITP: treat underlying cause TPO-RA - Thrombopoietin Receptor Agonists - Get the body to make more platelets

Question 72

What is seen in Kleinfelter's syndrome?

Answer 72

Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. Under normal circumstances males have XY sex chromosomes and females have XX sex chromosomes.

Question 73

When will people with Kleinfelters syndrome present, and with what?

Answer 73

Usually patients with Kleinfelter syndrome appear as normal males until puberty. At puberty can develop features suggestive of the condition: Taller height Wider hips Gynaecomastia Weaker muscles Small testicles *(its an example of hypergonadotropic hypogonadism)* Reduced libido Shyness Infertility Subtle learning difficulties (particularly affecting speech and language)

Question 74

What is the management of Kleinfelters Syndrome?

Answer 74

No cure Testosterone injections improve many of the symptoms Advanced IVF techniques have the potential to allow fertility Breast reduction surgery for cosmetic purposes May need SALT input, Occupational therapy and physio tp strengthen muscles and joints

Question 75

What is Turner's syndrome

Answer 75

Turner syndrome occurs when a female has a single X chromosome, making them 45 XO. The O referrs to an empty space where the other X chromosome should be. Life expectancy is close to normal.

Question 76

What are the features of Turner's sydrome?

Answer 76

Short stature Webbed neck High arching palate Downward sloping eyes with ptosis Broad chest with widely spaced nipples Cubitus valgus Underdeveloped ovaries with reduced function Late or incomplete puberty Most women are infertile Aortic coarctation is commonly associated with Turner's syndrome - ejection systolic murmur **You must rule out Turner's as a cause of delayed puberty in girls**

Question 77

Name 3 congenital heart problems that are often associated with Turner syndrome. What are some other health conditions associated with Turner Syndrome?

Answer 77

Coarctation of the aorta. Aortic stenosis. Aortic dissection. also, bicuspid aortic valve ***all aorta related!*** Recurrent otitis media Recurrent urinary tract infections Diabetes Osteoporosis

Question 78

What is the management for Turners syndrome?

Answer 78

Growth hormone therapy can be used to prevent short stature Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis Fertility treatment can increase the chances of becoming pregnant

Question 79

What is Down's syndrome caused by?

Answer 79

94% of the time, - Non disjunction error at meiosis==> the chromosome 21 pair fails to separate, so that one gamete has two chromosome 21s and one has none 5% - Robertsonian translocation - an extra chromone 21 is joined to another chromosome (mostly 14)

Question 80

What are some features of Down's syndrome?

Answer 80

Hypotonia (reduced muscle tone) = abnormal posture Brachycephaly (small head with a flat back) Short neck Short stature Flattened face and nose Prominent epicanthic folds -*folds of skin covering the medial portion of the eye and eyelid.* Upward sloping palpebral fissures Single palmar crease Sandal toe gap (between 1st and 2nd toe). Protruding tongue. Flat occiput Brushfield spots. can be associated with sleep apnoea and snoring. This is due to the low muscle tone in the upper airways and large tongue/adenoids. There is also an increased risk of obesity which in people with Down's syndrome which is another predisposing factor to snoring.

Question 81

What are some things done in screening for Down's syndrome? When?

Answer 81

Ultrasound measures nuchal translucency, which is the thickness of the back of the neck of the fetus. Downs = Nuchal Thickness over 6mm Beta‑human chorionic gonadotrophin (beta-HCG). A higher result indicates a greater risk. **Pregnancy‑associated plasma protein‑A (PAPPA)**. A lower result indicates a greater risk. The combined test involves both an ultrasound measurement of nuchal translucency and these blood tests - conducted **between 11 and 14 weeks** of gestation and is highly effective in screening for Down syndrome, providing a good balance of sensitivity and specificity.

Question 82

What are some tests for Down syndrome? When is it used?

Answer 82

The screening tests provide a risk score for the fetus having Down’s syndrome. When the risk of Down’s is greater than 1 in 150 (this result occurs in around 5% of tested women) the woman is offered: Chorionic villus sampling (CVS) involves an ultrasound guided biopsy of the placental tissue. non-invasive prenatal screening test (NIPT) - maternal blood test that looks at likelihood of foeuts having trisomy 21 - does not involve any needles inserted into the uterus. Amniocentesis involves ultrasound guided aspiration of some amniotic fluid using a needle and syringe.

Question 83

What is the management of Down's syndrome?

Answer 83

Management involves supportive care from the multidisciplinary team to help them meet their needs: Occupational therapy Speech and language therapy Physiotherapy Dietician Paediatrician GP Health visitors Cardiologist for congenital heart disease ENT specialist for ear problems Audiologist for hearing aids Optician for glasses Social services for social care and benefits Additional support with educational needs Charities such as the Down’s Syndrome Association

Question 84

What are some other conditions often seen in Down's syndrome?

Answer 84

**Cardiac defects affect 1 in 3** Medical problems associated with Down’s syndrome: ● Heart defects (Tetralogy of Fallot, atrioventricular septal defect (seen most commonly in Down’s children), ventricular septal defect and atrial septal defects) ● Hearing loss ● Visual disturbance (cataracts, strabismus, keratoconus) ● GI problems (oesophageal/ duodenal atresia, Hirschsprung’s disease, coeliac) ● Hypothyroidism - **occurs in 10 – 20%** ● Haematological malignancies (AML, ALL) ● Increased incidence of Alzheimer’s disease Learning disability Recurrent otitis media **Deafness.** Eustachian tube abnormalities lead to glue ear and conductive hearing loss. sleep apnoea and snoring. This is due to the low muscle tone in the upper airways and large tongue/adenoids. There is also an increased risk of obesity which in people with Down's syndrome which is another predisposing factor to snoring.

Question 85

What are the main cardiac defects seen in Down's syndrome?

Answer 85

atrioventricular septal defect, ventricular septal defect, persistent ductus arteriosus, and tetralogy of Fallot.

Question 86

What causes Edwards syndrome? What is the prognosis of it?

Answer 86

Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18 Second most common trisomy after Downs Many of those affected die before birth. Some studies suggest that more babies that survive to birth are female. Survival beyond a year of life is around 5–10%.

Question 87

What are some features of Edwards syndrome

Answer 87

Low birthweight * Prominent occiput * Small mouth and chin * Short sternum * Flexed, overlapping fingers * ‘Rocker-bottom’ feet * Cardiac and renal malformations

Question 88

How can Glucose-6-Phosphate Dehydrogenase Deficiency lead to anaemia? What type of anaemia?

Answer 88

A normocytic, Haemolytic Anaemia, where there is a genetic defect in teh G6PD protein

Question 89

Normal physiology - what does Glucose-6-Phosphate Dehydrogenase normally do?

Answer 89

The G6PD enzyme contributes to the production of **NADP+ and Gluthione**, which reduces the amount of ROS in the cell and protects RBCs from damage by ROS.

Question 90

What are some triggers that lead to deficit G6PD causing anaemia?

Answer 90

Periods of increased stress, with a higher production of ROS, can lead to acute haemolytic anaemia. e.g. infections (viral hepatitis or pneumonia), metabolic acidosis, **fava beans, soy products, red wine,** certain medications

Question 91

What is the typical presentation of G6PD deficiency?

Answer 91

Asymptomatic until exposed to oxidative stressor **Neonatal jaundice** – excess bilirubin **Chronic haemolytic** anaemia Acute haemolysis Rapid anaemia *Jaundice* Back pain Dark urine **Splenomegaly** Pallor Caused by Ingestion of fava beans Common drugs – quinine, sulphonamides, quinolones and nitrofurantoin

Question 92

What does the spleen do when it sees Heinz bodies

Answer 92

The spleen macrophages notice these Heinz bodies and try to remove them by taking a chunk out of the RBCs, leaving them partially devoured. These are known as **bite cells.**

Question 93

What investigations would you do for suspected G6PD deficiency anaemia? How can a diagnosis be made?

Answer 93

- **FBC:** low levels of RBC, high reticulocytes - **Blood film:** heinz bodies and bite cells -- **Bilirubin:** elevated - **Haptoglobin:** low - **Coomb's test:** negative (used to detect immune mediated anaemias)

Question 94

What is the management of G6PD deficiency?

Answer 94

- **Avoid trigger of haemolysis** e.g. fava beans and certain medications - In certain cases, **transfusions** may be needed

Question 95

What is Hereditary Spherocytosis? What is formed as a result, instead of normal RBCs?

Answer 95

Hereditary spherocytosis (HS) is an **inherited haemolytic anaemia** and is autosomal dominant in the majority of cases (75%), but can also be autosomal recessive. Leads to the formation of spherocytes, - round mishaped RBCs Spleen deems these RBCs to be abornmal, so destroys them, leading to anaemia

Question 96

What are some symptoms of spherocytosis?

Answer 96

- **Fatigue** - **Dizziness** - **Palpitations** - **Right upper quadrant pain:** due to gallstones - **Neonatal jaundice:** in 50% of patients - **Failure to thrive**

Question 97

What is the diagnostic criteria for diagnosing hereditary spherocytosis?

Answer 97

No further tests are needed for diagnosis, if: - Family history of HS **and** - Typical clinical features **and** - Positive laboratory investigations (spherocytes, raised MCHC, increase in reticulocytes)

Question 98

What are some investigations to consider in spherocytosis?

Answer 98

- **FBC:** normocytic anaemia with an increased reticulocyte count and raised MCHC - MCHC is increased as spherical RBCs lead to water diffusing out of the cell - **Blood film:** spherocytosis - **LFTs:** increased (unconjugated) bilirubin due to haemolysis - **Coombs test:** **negative** in hereditary spherocytosis. *(it is Positive in Autoimmune haemolytic anaemia)*

Question 99

What is the management for spherocytosis? What should these patients be prescribed and why?

Answer 99

- **Blood transfusion:** patients should be managed with transfusions for symptomatic anaemia until splenectomy is possible or deemed appropriate - **Folic acid**: all patients require daily folic acid supplementation until splenectomy - **Splenectomy:** removing the spleen reduces haemolysis - Patients must be **vaccinated** against encapsulated bacteria and be prescribed lifelong **phenoxymethylpenicillin**

Question 100

Outline what Patau syndrome is and what is seen in it What is the prognosis

Answer 100

Trisomy 13 Nervous system Intellectual disability and motor disorder Microcephaly Polydactyl Low set ears Rocker bottom feet Cleft palate Heart defects Approximately 90% of infants with Patau syndrome die within the first year of life.[8] Those children who do survive past 1 year of life are typically severely disabled with intellectual disability, seizures, and psychomotor issues

Question 101

What causes Fragile X syndrome?

Answer 101

Its a **trinucleotide repeat disorder**. A mutation on the FMR1 (fragile X mental retardation 1) gene on the X chromosome. There's abnormal expansion of CGG trinucleotide repeats in the gene's 5' untranslated region. Normal alleles: Fewer than 45 CGG repeats. Premutation alleles: 55–200 repeats, which can cause Fragile X-associated disorders but not FXS. Full mutation: Over 200 repeats, leading to hypermethylation of the FMR1 promoter. The FMR1 protein normally plays a role in cognitive development in the brain.

Question 102

What is the inheritance pattern of Fragile X syndrome?

Answer 102

It is X-linked, but it is unclear whether it is dominant or recessive. Males are always affected, but females can vary in how much they are affected, as they carry a spare normal copy of the FMR1 gene on their other X chromosome. When the mother is phenotypically normal, the affected child may have inherited the X chromosome from their mother, or it may result from a de novo (random) mutation.

Question 103

What are some of the features of fragile X syndrome?

Answer 103

Fragile X syndrome usually presents with a delay in speech and language development. Other features are: Intellectual disability Long, narrow face Large ears high arched palate Large testicles after puberty mitral valve prolapse Hypermobile joints (particularly in the hands) Attention deficit hyperactivity disorder (ADHD) Autism Seizures

Question 104

What is the management for Fragile X syndrome?

Answer 104

There is no cure for the condition. Management is supportive and involves treating the symptoms. This involves the multidisciplinary team to support the learning disability, manage autism and ADHD and treat seizures if they occur. Life expectancy is similar to the general population depending on associated disabilities and complications.

Question 105

What diseases can be picked up on the Heel prick test? When is it done in the UK

Answer 105

The neonatal blood spot screening test, also known as the 'heel prick' test, is typically performed between the **fifth and ninth day** of life in the United Kingdom. This timing allows for optimal detection of the five rare but serious health conditions that this test screens for Congenital hypothyroidism: A condition where the thyroid gland does not produce enough thyroid hormone, which is crucial for growth and development. Sickle cell disease: An inherited blood disorder where red blood cells become abnormally shaped, leading to anaemia and other health problems . Cystic fibrosis: A genetic disorder that affects the lungs and digestive system, causing respiratory infections and difficulty digesting food. Congenital adrenal hyperplasia (CAH): A group of genetic disorders affecting the adrenal glands, which can lead to hormonal imbalances and potentially life-threatening adrenal crises. Metabolic disorders, where body cannot process various amino acids, and one where body cant process galactose

Question 106

A mutation on what gene causes CF? What does this mutation go on to cause?

Answer 106

cystic fibrosis transmembrane conductance regulatory gene on **chromosome 7** **Δ-F508** is the most common mutation, where the codon for **phenylalanine** (F) in the CFTR gene is deleted, resulting in proteolytic degradation.

Question 107

What is the pathophysiology of a CFTR dysfunction in relation to the lungs?

Answer 107

CFTR mutation leads to **thick mucus secretions.** This causes impaired **mucociliary clearance** as the mucus is extra thick. This leads to **stagnation of mucus that contains pathogens which leads to increased infection risk.** The thicker mucus causes difficulty breathing Trapping of mucosal pathogens can cause a inflammatory reaction which leads to an **increased risk of bronchiectasis**

Question 108

What are the main pathogens that can cause lung infections in people with cystic fibrosis? What anbtx would you give for these

Answer 108

- Low volume thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections, especially with: S. Aureus – flucloxacillin H. influenzae – amoxicillin Pseudomonas aeruginosa - ciprofloxacin

Question 109

What is the pathophysiology of a CFTR dysfunction in relation to neonates? What is a prenatal sign of Cystic fibrosis?

Answer 109

Can lead to Meconium Ileus: Stool becomes too thick to pass through the bowel leading to bowel obstruction. - **Surgical emergency** Failure to thrive Pre natal - a **hyperechoic bowel** - bowel appears lighter/whiter than normal on Ultrasound scan.

Question 110

When is CF most often diagnosed? What does the test in question look for

Answer 110

- It is found during the **heel-prick/Guthrie test** which screens for CF in babies by looking for serum immunoreactivity trypsinogen Immunoreactivity trypsinogen is an pancreatic enzyme that is released into the blood when the pancreas is damaged.

Question 111

What other investigations can you do for CF? What is gold standard?

Answer 111

Other than **heel-prick/Guthrie test** *(looks for serum IRT)* **Sweat test:** gold standard test; induce sweating *(by placing electrodes on skin)* followed by analysis of sweat to check Cl- concentration A result of **> 60 mmol/L (sweat chloride) is positive** and requires referral to a cystic fibrosis specialist (normal value < 40 mmol/Ll) Genetic testing: Genetic testing for CFTR gene mutation can be performed during pregnancy, via amniocentesis - **Lung function tests:** obstructive pattern seen; and allows monitoring of treatment - **Sputum sample:** microbiological investigation during exacerbations Faecal elastase: test for pancreatic insufficiency

Question 112

for a man or women with mitchomdiral diseases, what are the chances that theyll pass it on to their children ?

Answer 112

Mitochondrial inheritance has the following characteristics: inheritance is only via the maternal line as the sperm contributes no cytoplasm to the zygote none of the children of an affected male will inherit the disease **all of the children of an affected female will inherit the disease**

Question 113

What is Duchene Muscular Dystrophy?

Answer 113

Caused by a mutation **(out of frame deletion)** of the gene for dystrophin. Dystrophin is responsible for connecting the actin cytoskeleton of each muscle fiber to the underlying basal lamina (extracellular matrix), The absence of dystrophin permits excess calcium to penetrate the sarcolemma (the cell membrane), ultimately leading to myofibre necrosis

Question 114

Explain the genetics of DMD?

Answer 114

**X linked Recessive** condition. Therefore mother with 1 faulty gene: Daughters - 50% chance of being carrier Sons - 50% chance of being affected

Question 115

What is the pathophysiology of DMD?

Answer 115

Lack of Dystrophin gene (vital part of muscle fibre) means that the muscles are not protected from being broken down by enzymes Therefore in DMD you get progressive wasting and weakness of muscle as they are broken down. The muscle tissue is then replaced by fibrofatty tissue Most Px in wheelchair by teenage years

Question 116

What cardiovascular condition is associated with DMD?

Answer 116

Dilated cardiomyopathy Dystrophin gene in heart muscle not present which is normally involved in membrane stability. Therefore in DMD there is damage to the cellular mechanisms causing dilation of ventricles due to wasting of the cardiac muscle causing cardiomyopathy

Question 117

What are the symptoms of DMD? What tests could you do for it?

Answer 117

Child struggles to get up from lying down (GOWER’S sign) Skeletal deformities - scoliosis electromyogram (EMG), muscle biopsy, genetic testing, muscle MRI Creatine Kinase will be raised in DND - **Check this in any boy that is not walking by 18 months**

Question 118

What is Gower’s Sign?

Answer 118

an inability to lift the trunk without using the hands and arms to brace and push – From the lying position, the patient rolls to the kneeling position, pushes on the ground with **extended forearms to lift the hips and straighten the legs,** so forming a triangle with hips at the apex and hands and feet on the floor forming the base. The **hands are then used to push on the knees** and so lift up the trunk (climbing upon yourself).

Question 119

Name some treatments for DND. What is life expectancy?

Answer 119

Phsyio, Braces, Corrective Sugery Assisted Ventilation Steroids, anticonvulsants to control seizures The median life expectancy is 28–30;

Question 120

Outline what is seen in Beckers Muscular dystrophy

Answer 120

similar to Duchennes, however the dystrophin gene is less severely affected and maintains some of its function. **(It's an inframe deleltion, not an outframe deletion)**

Question 121

What are some symptoms and management of Beckers Muscular dystrophy?

Answer 121

. Symptoms only start to appear around 8 – 12 years. Some patient require wheelchairs in their late 20s or 30s . Others able to walk with assistance into later adulthood. Management is similar to Duchennes. (orthotics, surgery, bracing, steroids/anticonvulsants etc)

Question 122

Define Imprinting

Answer 122

where the expression of some genes is influenced by the sex of the parent who transmitted it or The process by which only one copy of a gene in an individual (either from their mother or their father) is expressed, while the other copy is suppressed.

Question 123

What are ways that Angelman Syndrome can be caused?

Answer 123

Angelman syndrome is a genetic condition caused by loss of function of the **UBE3A gene,** specifically the copy of the gene that is inherited from the mother. Caused by a **deletion in the Maternally inherited chromosome 15** or **paternal uniparental disomy** - *where two copies of chromosome 15 are contributed by the father, with no copy from the mother.* Angel**M**an = Issue with maternal chromosome!

Question 124

What are some features of Angleman sydnrome?

Answer 124

Delayed development and **learning disability** Severe delay or absence of speech development Coordination and balance problems (ataxia) **Fascination with water** **Happy demeanour Inappropriate laughter** Hand flapping Epilepsy Ataxia Attention-deficit hyperactivity disorder Microcephaly Fair skin, light hair and blue eyes Wide mouth with **widely spaced teeth** Key features in bold

Question 125

What are ways that Prader-Willi syndrome can be caused?

Answer 125

About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. ***(maternal uniparental disomy)*** Parts of the chromosome from the mother are turned off through **imprinting, they end up with no working copies of certain genes** PWS is not generally inherited, but rather the genetic changes happen during the formation of the egg, sperm, or in early development

Question 126

What are some signs of Prader Willi Syndrome? What will you often see in newborns w PWS?

Answer 126

Neonatal hypotonia and poor feeding Mild-moderate learning disability Hypogonadism/Small genitalia Fairer, soft skin that is prone to bruising Mental health problems, particularly anxiety **Hyperphagia and obesity** Narrow forehead Almond shaped eyes Currently, the syndrome is diagnosed through genetic testing; testing is recommended for newborns with pronounced hypotonia

Question 127

Outline some of the management for PWS

Answer 127

Growth hormone is indicated by NICE as a treatment for Prader-Willi Syndrome, aimed at improving muscle development and body composition. Restrict access to food Supportive care from the multidisciplinary team to manage features: Dieticians play a very important role Education support Social workers Psychologists or psychiatrists Physiotherapists Occupational therapists

Question 128

What is Noonan syndrome?

Answer 128

The majority of cases are inherited in an autosomal dominant way. There is variation in the signs and symptoms of Noonan syndrome, depending on the underlying cause. 30-75% of cases show a noticeable inheritance from one of the parents, the rest are caused by de-novo genetic mutations occurring for the first time in the affected individual.

Question 129

What are some features of Noonan syndrome?

Answer 129

Features Short stature Broad forehead Downward sloping eyes with ptosis Hypertelorism (wide space between the eyes) Prominent nasolabial folds Low set ears Webbed neck Widely spaced nipples

Question 130

What are some complications of Noonans syndrome?

Answer 130

Congenital heart disease, particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women. Learning disability Bleeding disorders Lymphoedema Increased risk of leukaemia and **neuroblastoma** - palpable abdominal mass, ‘blueberry muffin’ rash, dark circles around eyes/’racoon eyes’, proptosis (protrusion of eyes), weight loss, bone pain, constipation, lymphadenopathy

Question 131

What are some different tests used in Genetic testing/screening?

Answer 131

Karyotyping Microarray Testing Comparative genomic hybridization Specific Gene Testing

Question 132

Outline how microarray testing works

Answer 132

Isoloate certain genes by chopping them up with enzymes - chopped up genetic material is then applied to a plate that separates molecules of different weights into different locations. can be used to see what genes the person expresses.

Question 133

Outline how Comparative genomic hybridization works

Answer 133

isolation of DNA from the two sources to be compared, most commonly a test and reference source, independent **labelling of each DNA sample with fluorophores** (fluorescent molecules) of different colours (usually red and green) Can **detect deletion or duplication of single exons** Main indication is intellectual disability/physical malformations

Question 134

How does karotyping work?

Answer 134

Karyotyping involves looking at the number of chromosomes, their size and basic structure. This is helpful in diagnosing conditions like Down’s syndrome (trisomy 21) and Turner syndrome (45 XO).

Question 135

What causes williams syndrome?

Answer 135

William syndrome is caused by a deletion of genetic material on one copy of chromosome 7, It usually the result of a random deletion around conception, rather than being inherited from an affected parent. Picture - starburst eyes seen in Williams syndrome

Question 136

What are some features of Williams syndrome

Answer 136

Broad forehead Starburst eyes (a star-like pattern on the iris) Flattened nasal bridge Wide mouth with widely spaced teeth Small chin Very sociable trusting personality Mild learning disability

Question 137

What are some complications of Williams syndrome?

Answer 137

**Supravalvular aortic stenosis** (narrowing just above the aortic valve) Attention-deficit hyperactivity disorder Hypertension **Hypercalcaemia** Picture - starburst eyes seen in Williams syndrome

Question 138

What is Osteogenesis imperfecta?

Answer 138

an inherited osteoporotic condition that leads to bone weakness in children. It is due to a defect in type 1 collagen genes Inheritance is Autosomal Dominate in 90% There are 8 types of osteogenesis imperfecta depending on the underlying genetic mutation, and they vary in their severity. Type I is most common

Question 139

Give some signs of osteogenesis imperfecta.

Answer 139

recurrent and inappropriate fractures. There are several associated features: Hypermobility Blue / grey sclera (the “whites” of the eyes) Triangular face Short stature scoliosis Deafness from early adulthood Dental problems, particularly with formation of teeth Bone deformities, such as bowed legs and scoliosis Joint and bone pain

Question 140

What are some tests you can do for Osteogeneis Imperfecta? What is the classification system used for it called?

Answer 140

* Molecular genetic testing (pre- or postnatal). * Biochemistry: normal/increased alkaline phosphatase (ALP). Xrays to diagnose fractures and bone deformities * Bone biopsy: histology—increased Haversian canal + osteocyte lacunae diameters, increased cell numbers. Its a clinical diagnosis The **Sillence classification** is the classification used in osteogenesis imperfecta

Question 141

What is the management for osteogenesis imperfecta?

Answer 141

MDT approach - physicians, surgeons, physiotherapists, OT’s. Genetic counselling Rheumatology Bisphosphonates e.g. pamidronate Vitamin D supplementation to prevent deficiency. Pain relief - paracetamol, ibrupfen

Question 142

What is Rickets?

Answer 142

condition affecting children where there is **defective bone mineralisation** causing “soft” and deformed bones.

Question 143

Name some causes of Rickets -

Answer 143

Rickets is caused by a deficiency in vitamin D or calcium. * Decreased exposure to sunlight, e.g. in some Asian children living in the UK * Diets low in calcium, phosphorus, and vitamin D, e.g. exclusive breastfeeding into late infancy * Macrobiotic, strict vegan diets * Small bowel enteropathy (e.g. coeliac disease) * Pancreatic insufficiency (e.g. cystic fibrosis) Liver and Kidney failure Drugs, especially anticonvulsants such as phenobarbital and phenytoin, interfere with the metabolism of vitamin D and may also cause rickets.

Question 144

Outline the pathophysiology of rickets

Answer 144

Inadequate vitamin D leads to a **lack of calcium and phosphate in the blood.** These are required for the construction of bone, so low levels result in defective bone mineralisation. Low calcium causes a secondary hyperparathyroidism as the parathyroid gland tries to raise the calcium level by secreting parathyroid hormone. Parathyroid hormone stimulates increased reabsorption of calcium from the bones. This causes further problems with bone mineralisation.

Question 145

What are some signs and symptoms of rickets?

Answer 145

**Lethargy Bone pain Swollen wrists** Bone deformity Poor growth Dental problems Abnormal fractures Bowing of the legs, where the legs curve outwards Knock knees, where the legs curve inwards Rachitic rosary, where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest Craniotabes, which is a soft skull, with delayed closure of the sutures and frontal bossing Delayed teeth with under-development of the enamel *Think about the risk factors for vitamin D deficiency in your exams and clinical practice. Patients with rickets are likely to have risk factors such as darker skin, low exposure to sunlight, live in colder climates and spend the majority of their time indoors.*

Question 146

What are some tests you would do for Rickets?

Answer 146

Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D Xray is required to diagnose rickets. X-rays may also show osteopenia (more radiolucent bones). Serum calcium may be low Serum phosphate may be low Serum alkaline phosphatase may be high Parathyroid hormone may be high

Question 147

What tests may you want to consider in Rickets that may be indicative of an underlying cause of the disease?

Answer 147

Full blood count and ferritin, for **iron deficiency anaemia** Inflammatory markers such as ESR and CRP, for **inflammatory conditions** Kidney function tests, for **kidney disease** Liver function tests, for **liver pathology** Malabsorption screen such as anti-TTG antibodies, for **coeliac disease**

Question 148

What is the management for Rickets?

Answer 148

Prevention is the best management for rickets. Breastfed babies are at higher risk of vitamin D deficiency compared with formula fed babies, as formula feed is fortified with vitamin D. Breastfeeding women and all children should take a vitamin D supplement. Children with vitamin D deficiency can be treated with vitamin D (ergocalciferol)

Question 149

What is the most common cause of hip pain in children 3-10? What causes it?

Answer 149

Transient synovitis, which is caused by temporary irritation and inflammation of the synovial membrane in the joint,** It is often associated with a recent viral upper respiratory tract infection.

Question 150

What is the typical presentation of Transient synovitis?

Answer 150

Symptoms of transient synovitis often occur within a few weeks of a viral illness. They present with acute or more gradual onset of: Limp Refusal to weight bear Groin or hip pain Mild low grade temperature

Question 151

What do you need to exclude in a child presenting with transient synovitis? What are some differences in presnetation for each?

Answer 151

Septic Arthritis - the opposite of the following is seen in SA: Mild/absent fever in TS, Moderate or high fever in SA Child will look well in TS, looks ill in SA Comfortable at rest in TS with limited internal rotation, but severe pain at rest and in any movement in SA WCC and ESR will be normal in TS, raised in SA **However, If a child with a limp/hip pain has a fever they should be referred for same-day assessment, even if a diagnosis of transient synovitis is suspected**

Question 152

What is the management of Transient synovitis?

Answer 152

simple analgesia to help ease the discomfort, exclude **septic arthritis** may be managed in primary care if the limp is present for less than 48 hours and they are otherwise well, however they need clear safety net advice to attend A&E immediately if the symptoms worsen or they develop a fever. They should also be followed up at 48 hours and 1 week to ensure symptoms are improving and then fully resolve significant improvement in symptoms after 24 – 48 hours. Symptoms fully resolve within 1 – 2 weeks without any lasting problems.

Question 153

What is septic arthritis? When is it most common and how does it present?

Answer 153

infection inside a joint. This can occur at any age, but is **most common in children under 4 years**. Septic arthritis usually only affects a single joint. This is often a knee or hip. It presents with a rapid onset of: Hot, red, swollen and painful joint Refusing to weight bear Stiffness and reduced range of motion Systemic symptoms such as fever, lethargy and sepsis Septic arthritis can be subtle in young children, so always consider it as a differential when a child is presenting with joint problems. If a child with a limp/hip pain has a fever they should be referred for same-day assessment, even if a diagnosis of transient synovitis is suspected

Question 154

What are the most common bacteria that causes septic arthritis?

Answer 154

Staphylococcus aureus is the most common causative organism. Other bacteria: Neisseria gonorrhoea (gonococcus) in sexually active teenagers Group A streptococcus (Streptococcus pyogenes) Haemophilus influenza Escherichia coli (E. coli)

Question 155

What is the Criteria seen in septic arthritis?

Answer 155

Kochers Criteria T>38.5 CRP>20 ESR>40 WCC>12 Cannot weight bear ``` 3/4 = septic joint.

Question 156

What investigations would you do for septic arthirits? What is gold standard?

Answer 156

- **FBC**: leukocytosis - **CRP and ESR**: elevated due to inflammation and used for monitoring response to treatment - **Blood cultures**: should be performed on **all** patients before commencing antibiotics Joint aspiration (arthrocentesis): definitive investigation ideally prior to commencing antibiotics; synovial fluid should be sent to the lab for microscopy and culture

Question 157

What is the management for Septic arthritis?

Answer 157

- IV **antibiotics** - **Empirical therapy**: flucloxacillin is first-line - **Penicillin allergy**: clindamycin - **Suspected or confirmed MRSA**: vancomycin - **Gonococcal arthritis or gram-negative infection**: cefotaxime or ceftriaxone - **Joint drainage** - Aspiration - Arthroscopic drainage - Open drainage

Question 158

When would you do an urgent paediatric assessment to rule out Septic arthritis?

Answer 158

All **acute limps in patients under 3 years** should be urgently assessed by secondary care paediatric teams to rule out septic arthritis or traumatic injury. Note that septic arthritis can **present in patients who are otherwise well** so normal observations are not necessarily reassuring in this patient.

Question 159

What is Osteomyelitis? Where does it typically most commonly occur? What is the most common bacterial organism of it?

Answer 159

Osteomyelitis is an infection in the bone and bone marrow. This typically occurs in the metaphysis of the long bones.- The most common sites are the distal femur and proximal tibia, The most common bacteria is staphylococcus aureus

Question 160

What are some risk factors for developing osteomyelitis? What age is it most common ?

Answer 160

Osteomyelitis is more common in boys and children under 10 years Open bone fracture Orthopaedic surgery Immunocompromised Sickle cell anaemia HIV Tuberculosis

Question 161

What is the treatment for Osteomyeltis?

Answer 161

>3 months old - IV cefuroxime (to cover for loads of stuff) 6 months, switch to fluclox when ready

Question 162

How can the periosteum be affected in osteomyelitis? What can it lead to?

Answer 162

The periosteum is loosely attached to the compact bone, so infection can make two layers can separate - **allow an abscess to form** between them. The **abscess tracks along the periosteum, lifting it up - away from the compact bone** Infection could now spread to nearby joint, or maybe even to muscle, skin, vessels ----***Thrombophlebitis***

Question 163

What investigations would you do for suspected osteomyelitis?

Answer 163

Bloods - **FBC - elevated WCC** - **CRP and ESR - elevated** Microbiology - **Urine MSU** - **Blood cultures** - **Wound swabs** Imaging - **X-ray of suspected area** - Local osteopenia - Areas of bone lysis - Cortical loss - Periosteal reaction - Sequestrum and involucrum may be seen in advanced disease **GOLD STANDARD** - MRI - **MRI** - Good visualisation of bone and surrounding soft tissue - Bone marrow oedema can be seen early on

Question 164

What is perthes disease? When does it most commonly occur

Answer 164

It is a disuruption of blood flow to the femoral head, - **leading to avascular necrosis of the bone**, followed by revascularization and reossification over 18–36 months affects the epiphysis of the femur, which is the bone distal to the growth plate (physis) there is no clear cause or trigger for the avascular necrosis. . It occurs in children aged 4 – 12 years, mostly between 5 – 8 years, and is more common in boys. Hyperactivity and short stature are associated with Perthes disease.

Question 165

What is seen in the presentation of Perthes disease?

Answer 165

Presentation is insidious, with the onset of a limp, or hip or knee pain. may appear as Transient Synovitis, and Bilateral in 10-20% progressive hip pain, limp and stiffness There will be no history of trauma. If the pain is triggered by minor trauma, think about slipped upper femoral epiphysis, particularly in older children. Hyperactivity and short stature are associated with Perthes disease.

Question 166

What are some investigations you should do for Perthes disease? What would you see?

Answer 166

X-ray of both hips (including frog views) should be requested; early signs of Perthes include increased **density in the femoral head, which subsequently becomes fragmented and irregular** Bone Scan and MRI Blood tests are typically normal, particularly inflammatory markers that are used to exclude other causes

Question 167

What is the management for Perthes disease?

Answer 167

conservative, with the aim of management to maintain a healthy position and alignment in the joint and reduce the risk of damage or deformity to the femoral head So use Bed rest Traction Crutches Analgesia Physiotherapy is used to retain the range of movement in the muscles and joints without putting excess stress on the bone. Regular xrays are used to assess healing. Surgery may be used in severe cases, older children or those that are not healing. The aim is to improve the alignment and function of the femoral head and hip.

Question 168

What is a discoid meniscus?

Answer 168

congenital anomaly of the knee found in 3% of the population, typically affecting lateral meniscus discoid meniscus is **thickened and has a fuller crescent shape and does not taper as much towards the center of the joint** and is shaped like a disc.

Question 169

What can having a discoid meniscus lead to ? What is the best way to diagnose it

Answer 169

The thickness of the meniscus, its diminished vascular blood supply, and in some instances, weak capsular attachment, makes it more prone to tears compared to a normal meniscus. a tear of the meniscus can result in pain, swelling, and snapping in the affected knee n X-ray study would be done to rule out any bony pathology such as a fracture. Since it is difficult to diagnose meniscal anomalies with X-ray, an MRI would be necessary to visualize the discoid meniscus.

Question 170

What is a Slipped Upper Femoral Epiphysis? What ages does it most commonly occur?

Answer 170

It is where the head of the femur is displaced (“slips”) along the growth plate (also known as the Physis). It is more common in boys and typically presents aged 8 – 15 years, with the average age of 12 in boys. It presents slightly earlier in females, with an average age of 11 years. It is more common in obese children.

Question 171

How may someone with a slipped upper femoral epiphysis present?

Answer 171

The patient may complain of a several week history of vague groin or thigh discomfort. In 40% this will be bilateral. They may have a waddling gait and a decreased range of motion. There may be a history of minor trauma that triggers the onset of symptoms. Suspect SUFE if the pain is disproportionate to the severity of the trauma. hey will prefer to keep the hip in external rotation. They will have limited movement of the hip, particularly restricted internal rotation. - **leg will be externally rotated!** *(fat, wanna manspread)*

Question 172

What are the main investigations for SUFE?

Answer 172

**AP and frog-leg view x-ray are the most commonly used views for suspected SUFE** Since SUFE is bilateral in 20% of cases, both hips should be imaged to exclude involvement of the other hip, even if there are no suggestive symptoms currently. Other investigations that can be helpful in establishing the diagnosis are: Blood tests are normal, particularly inflammatory markers used to exclude other causes of joint pain Technetium bone scan CT scan MRI scan

Question 173

What is the management of SUFE?

Answer 173

Surgery is required to return the femoral head to the correct position and fix it in place to prevent it slipping further.

Question 174

What is Osgood Schlatters disease? Outline the pathophysiology of it

Answer 174

inflammation at the tibial tuberosity where the patella ligament inserts. The tibial tuberosity is at the epiphyseal plate. Stress eg running/jumping at the same time as growth in the epiphyseal plate result in inflammation on the **tibial epiphyseal plate.** There are multiple small avulsion fractures, where the patella ligament pulls away tiny pieces of tibia bone. This leads to growth of the tibial tuberosity, causing a visible lump below the knee.

Question 175

What is the presentation of Osgood Schlatters disease?

Answer 175

Visible or palpable hard and tender lump at the tibial tuberosity Pain in the anterior aspect of the knee The pain is exacerbated by physical activity, kneeling and on extension of the knee Common in athletes and kids who do sport, eg football

Question 176

What is the management of Osgood schlatters disease?

Answer 176

Initial management focuses on reducing the pain and inflammation. Reduction in physical activity Ice NSAIDS (ibuprofen) for symptomatic relief Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function. Symptoms will fully resolve over time. The patient is usually left with a hard boney lump on their knee.

Question 177

What is Developmental Dysplasia of the hip?

Answer 177

structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy. This leads to instability in the hips and a tendency or potential for subluxation or dislocation

Question 178

What are some risk factors for having DDH?

Answer 178

1. **Female (M:F - 1:8).** 2. First born. 3. Breech birth after 36w gestation 4. Family history. 5. Macrosomic baby (>5kg) Oligohydramnios All breech babies at or after 36 weeks gestation require USS for DDH screening at 6 weeks regardless of mode of delivery

Question 179

What are some signs of DDH? Why should it always be picked up?

Answer 179

DDH is screened for on the neonatal examination at birth and 6-8 week old. When examining, look for symmetry in the hips, leg length, skin folds and hip movements. Findings that may suggest DDH are: Different leg lengths Restricted hip abduction on one side Significant bilateral restriction in abduction Difference in the knee level when the hips are flexed Clunking of the hips on special tests

Question 180

What are two special tests you can do for Developmental Dysplasia of the hip? What is the main investigation for DDH? When breach at 36 week or later, what do you need to do

Answer 180

Ortolani test - Gentle pressure is used to abduct the hips and apply pressure behind the legs with the fingers to see if the hips will dislocate anteriorly. Barlow test- Gentle downward pressure is placed on knees through femur to see if the femoral head will dislocate posteriorly. = push an articulated (or properly seated) femoral head out of the acetabulum, **"Clunking sound"** is more likely to indicate DDH and requires an ultrasound. Where children are suspected of having DDH, **ultrasound of the hips is the investigation of choice** and can establish the diagnosis. All children with risk factors or examination findings suggestive of DDH should have an ultrasound. however, if the infant is > 4.5 months then x-ray is the first line investigation All breech babies at or after 36 weeks gestation require USS for DDH screening at 6 weeks regardless of mode of delivery

Question 181

What is the management for DDH?

Answer 181

a Pavlik harness if the baby presents at **less than 6 months of age.** The Pavlik harness is fitted and kept on permanently, with the aim is to hold the femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape Surgery is required when the **harness fails or the diagnosis is made after 6 months** of age

Question 182

What is Juvenile Idiopathic arthritis? What are key featires of it?

Answer 182

Joint swelling/stiffness >6 weeks in children <16 and no other cause is identified. **Time frame = over 6 weeks!** The key features of inflammatory arthritis are joint pain, swelling and stiffness.

Question 183

What are the five main subtypes of juvenile idiopathic arthritis?

Answer 183

Systemic JIA Polyarticular JIA Oligoarticular JIA Enthesitis related arthritis Juvenile psoriatic arthritis

Question 184

Outline what Systemic JIA is, and features of its presentation. What is a condition presents like this that

Answer 184

also knowns as Still’s disease. Typical features are: Subtle salmon-pink rash High swinging fevers Enlarged lymph nodes Weight loss Joint inflammation and pain Splenomegaly Muscle pain Pleuritis and pericarditis -- **Acute Lymphoblastic leukaemia is an important thing to also consider, in a presentation like this!!** Kier Starmers mum had adult version of this disease

Question 185

What are some laboratory findings of Systemic JIA?

Answer 185

Antinuclear antibodies and rheumatoid factors are typically negative. All kids w joint pain (especially hips should have FBC to look for ALL) There will be raised inflammatory markers, with raised CRP, ESR, platelets and serum ferritin, and anaemia

Question 186

What is a key complication of Systemic JIA?

Answer 186

macrophage activation syndrome (MAS), where there is severe activation of the immune system with a massive inflammatory response. It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash Key finding is **Low ESR** *In children that have fevers for more than 5 days, the key non-infective differentials to remember are Kawasaki disease, Still’s disease, rheumatic fever and leukaemia.*

Question 187

Oultine what is seen in polyarticular JIA

Answer 187

Polyarticular JIA involves idiopathic inflammatory arthritis in 5 joints or more tends to be symmetrical and can affect the small joints of the hands and feet, as well as the large joints such as the hips and knees. There are minimal/mild systemic symptoms, unlike systemic JIA Most children are negative for rheumatoid factor and are described as “seronegative”. When rheumatoid factor is positive they are described as “seropositive”. Think of it as childrens equivalent of Rheumatoid arthritis

Question 188

Oultine what is seen in oligoarticular JIA

Answer 188

It involves 4 joints or less. Usually it only affects a single joint, which is described as a monoarthritis. It tends to affect the larger joints, **often the knee or ankle.** It occurs more frequently in **girls** under the age of **6 years**.

Question 189

What are typical blood results seen in oligoarticular JIA? What is a very common associated feature of it?

Answer 189

A classic associated feature with oligoarticular JIA is anterior uveitis. **Patients should be referred to an ophthalmologist for management and follow up of uveitis.** **Most common type of JIA** Patients tend not to have any systemic symptoms and inflammatory makers will be normal or mildly elevated. **Antinuclear antibodies are often positive, however rheumatoid factor is usually negative**.

Question 190

Outline what is seen in Enthesitis related arthritis What is is assossicated with?

Answer 190

It can be thought of as the paediatric version of the seronegative spondyloarthropathy group of conditions that affect adults. Willl see inflammatory arthritis in the joints as well as enthesitis. *(inflammation of where muscles attatches to bone), either due to stress or autoimmune* **The majority of patients with enthesitis-related arthritis have the HLA B27 gene - look for signs of Psoraris and IBD**

Question 191

Outline what is seen in Juvenile Psoriatic Arthritis

Answer 191

Psoriatic arthritis is an seronegative inflammatory arthritis associated with psoriasis, Juvenile psoriatic arthritis is associated with several signs on examination: **Plaques of psoriasis** on the skin Pitting of the nails (nail pitting) **Onycholysis**, separation of the nail from the nail bed Dactylitis, inflammation of the full finger **Enthesitis**, inflammation of the entheses, which are the points of insertion of tendons into bone

Question 192

What are some more general presenting features that would prompt you to think about JIA?

Answer 192

Gelling (stiffness after periods of rest, such as long car rides), morning joint stiffness, and pain. Intermittent limp or deterioration in mood or avoidance of previously enjoyed activities Initially, there may be only minimal evidence of joint swelling, but subsequently there may be swelling of the joint due to fluid within it, *However, in any child with widespread joint pain, fatigue or multisystem involvement, connective tissue disorder needs to be considered. If systemic features are present, sepsis and malignancy must always be considered.*

Question 193

What is the management of Juvenile idioapatic arthritis?

Answer 193

Medical treatment depends on the severity and response, and involves: **PHYSIOTHERAPY** NSAIDs, such as ibuprofen Steroids, either oral, intramuscular or intra-artricular in oligoarthritis Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, sulfasalazine Biologic therapy, such as the tumour necrosis factor inhibitors - etanercept, infliximab and adalimumab

Question 194

Outline what happens in scoliosis

Answer 194

Condition that causes a **lateral curvature of the spine** This leads to bending of the spine and poor posture, even lead to cardiorespiratory failure

Question 195

What are some symptoms of scoliosis?

Answer 195

Symptoms: – Pain in the shoulders and back – Restrictive lung disease – Limited mobility – Uneven hips, arms or leg lengths – Constipation due to tightening up of the bowel contents

Question 196

What is the management of scolisis?

Answer 196

– If minor –>can self-resolve – If severe –> may require bracing and physiotherapy, else surgery is needed

Question 197

What is Torticollis? What causes it?

Answer 197

This is known as wry neck and is defined by an abnormal, asymmetrical head position – It is due to excessive contraction of the sternocleidomastoid which pulls the ear to ipsilateral shoulder and the face to the other side. Congenital torticollis: – Birth trauma – Also can be due to a sternocleidomastoid tumour Acquired: – Due to muscle spasm (most common) – Also due to ENT infections, antipsychotics

Question 198

What is the treatment for torticollis

Answer 198

– Physical therapy like stretching helps and it usually self-resolves within a few days – If unresolving, surgery may be required

Question 199

What are some differentials diagnosis of a limp in children aged 0-3?

Answer 199

* Trauma, e.g. fracture (may be accidental or non-accidental) * Infections, e.g. septic arthritis, osteomyelitis or discitis * Malignancy * Developmental dysplasia of the hip * Neuromuscular disease, e.g. cerebral palsy

Question 200

What are some differentials diagnosis of a limp in children aged 4-10

Answer 200

* Trauma * Transient synovitis (irritable hip) * Infection * Perthes disease * Juvenile idiopathic arthritis * Malignancy, e.g. leukaemia

Question 201

What are some differentials diagnosis of a limp in children aged 10-18?

Answer 201

* Trauma * Infection * Slipped upper femoral epiphysis * Juvenile idiopathic arthritis * Malignancy, e.g. osteogenic sarcoma Perthe's disease.

Question 202

What must you remember to consider as a differential in a limping child?

Answer 202

Intra-abdominal pathology e.g. hernia, testicular torsion.

Question 203

What investigations might you want to do on a child presenting with a limp?

Answer 203

1. General observations e.g. HR, BP, T, RR, O2 sats. 2. FBC, BM, ESR and CRP. 3. XR - AP and lateral views of the the joint and the joints above and below. 4. USS - effusion in joints? 5. CT/MRI.

Question 204

Name some non infectious differentials for fevers that persist in children for more than 5 days

Answer 204

In children that have fevers for more than 5 days, the key non-infective differentials to remember are Kawasaki disease, Still’s disease, rheumatic fever and leukaemia.

Question 205

How can you stimulate breathing in the first minute of a newborns life

Answer 205

Simulate the baby to prompt breathing, for example by drying vigorously with a towel Place the baby’s head in a neutral position to keep airway open. A towel under the shoulders can help keep it neutral. If gasping or unable to breath, check for airway obstruction (i.e. meconium) and consider aspiration under direct visualisation

Question 206

If a neonate is not breathing/sturggling or gasping for breath in their first minutes of life, what should you do

Answer 206

Give inflation breaths: Two cycles of five inflation breaths (lasting 3 seconds each) can be given to stimulate breathing and heart rate If there is no response and the heart rate is low, 30 seconds of ventilation breaths can be used Inflation breaths: **Slow, deep breaths** given initially to expand the lungs and establish the first breath. Ventilation breaths: **More rapid, regular breaths** that follow inflation breaths to maintain oxygenation and CO2 removal. essential to maintain a neutral head position and get a good seal around the mouth and nose. Look for a rise and fall in the chest.

Question 207

If heart rate remains below 60bpm despite resusciation and inflation breaths, what should you move on to doing and how?

Answer 207

Try not to shit yourself Chest compression * Start if heart rate <60 beats/min in spite of effective lung inflation * Ratio of compression: lung inflation of 3:1, rate of 90 compressions: 30 breaths/min (120 events/min) – avoid compressing chest during a ventilation breath. * Recheck heart rate every 30 seconds; stop when heart rate >60 beats/min

Question 208

What is respiratory distress syndrome?

Answer 208

A condition that commonly happens in babies born before 32 weeks born before the lungs start producing adequate surfactant.

Question 209

Normal physiology - what do type 1 and type 2 pneumocytes do, and what is found in the lung interstitial tissue?

Answer 209

Type 1 - helps make up air barrier, long and thin Type 2 - cuboidal, secrete surfactant In-between these there is interstitial tissue, that contains macrophages and fibroblasts

Question 210

Give 3 functions of surfactant.

Answer 210

1. Reduces ?? surface tension. 2. Prevents alveoli collapse. 3. Allows homogenous aeration.

Question 211

Outline the pathophysiology of respiratory distress sydrome

Answer 211

Inadequate surfactant leads to high surface tension within alveoli. This leads to atelectasis (lung collapse), as it is more difficult for the alveoli and the lungs to expand. This leads to inadequate gaseous exchange, resulting in hypoxia, hypercapnia (high CO2) and respiratory distress.

Question 212

What is the management of respiratory distress sydrome?

Answer 212

**Antenatal steroids (i.e. dexamethasone)** given to mothers with suspected or confirmed preterm labour **increases the production of surfactant** and reduces the incidence and severity of respiratory distress syndrome in the baby. Intubation and ventilation to fully assist breathing if the respiratory distress is severe **Endotracheal surfactant**, which is artificial surfactant delivered into the lungs via an endotracheal tube - or can be given LISA - less invasive sufracnt adminsitration (put LISA catheter down trachea) Works really really well **Continuous positive airway pressure (CPAP)** via a nasal mask to help keep the lungs inflated whilst breathing Supplementary oxygen to maintain oxygen saturations between 91 and 95% in preterm neonates

Question 213

What can often be seen w RDS?

Answer 213

Hypoglycaemia - Reason: Premature infants have limited glycogen stores and immature glucose homeostasis, and the respiroatry distress leads to increased metabolic demmand give IV fluids, 10% dextrose - dont give anyting orally in prem RDS babies (if born at term can give glucogel)

Question 214

What are some complications of RDS?

Answer 214

Short term complications: Pneumothorax Infection Intraventricular haemorrhage - Pulmonary haemorrhage Necrotising enterocolitis Long term complications: Chronic lung disease of prematurity Retinopathy of prematurity occurs more often and more severely in neonates with RDS Neurological, hearing and visual impairment

Question 215

What is transient tachypnoea of the new-born? What are some risk factors for it?

Answer 215

Self-limited respiratory distress in newborns due to delayed clearance of fetal lung fluid. Risk Factors/Causes: C-Section delivery (lack of vaginal squeeze to expel lung fluid). Prematurity (immature lungs with inefficient fluid clearance). Maternal diabetes.

Question 216

What is some presentation of transient tachyopnea of the newborn and what is the mangaement

Answer 216

Presentation: Timing: Within the first hours after birth. Symptoms: Tachypnea (>60 breaths/min), grunting, nasal flaring, mild cyanosis. Chest X-ray: Prominent perihilar streaking, fluid in fissures, hyperinflation. Management: Supportive Care: Oxygen via nasal cannula or CPAP if hypoxic. Monitor for improvement (typically resolves in 24-72 hours). Avoid invasive ventilation unless severe or another cause is suspected. Rule out infections (e.g., sepsis) if symptoms persist or worsen.

Question 217

What is Chronic Lung Disease of Prematurity/Bronchopulmonary Dysplasia, and how does it occur? When is it diagnosed?

Answer 217

It occurs in premature babies, typically those born before 28 weeks gestation. These babies suffer with respiratory distress syndrome and require oxygen therapy or intubation and ventilation at birth. Diagnosis is made based on **chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks** gestational age.

Question 218

Why is bronchopulmonary dysplasia thought to happen?

Answer 218

thought to be mainly from delay in lung maturation, but may also be from pressure and volume trauma from artificial ventilation, oxygen toxicity and infection Basically, its now known to be to abnormal wound healing in response to injury

Question 219

What are some features of bronchopulmonary dysplasia? What may you see on xray?

Answer 219

Low oxygen saturations Increased work of breathing Poor feeding and weight gain Crackles and wheezes on chest auscultation Increased susceptibility to infection Chest X-ray of bronchopulmonary dysplasia (BPD) showing fibrosis and lung collapse, cystic changes, widespread opacitiy and over-distension of the lung

Question 220

What is some ways to prevent bronchopulmonary dysplasia/Chronic Lung Disease of Prematurity

Answer 220

Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at less than 36 weeks gestation can help speed up the development of the fetal lungs before birth and reduce the risk of CLDP. When born, reduce risk by Using CPAP rather than intubation and ventilation when possible Using caffeine to stimulate the respiratory effort Not over-oxygenating with supplementary oxygen

Question 221

What needs to be given to babies with bronchopulmonary dysplasia/Chronic Lung Disease of Prematurity

Answer 221

Will need a sleep study to see if they need to go home with supplemental oxygen - this will be followed up and weened off require protection against respiratory syncytial virus (RSV) to reduce the risk and severity of bronchiolitis. This involves **monthly injections of a monoclonal antibody against the virus called palivizumab.** This is very expensive (around £500 per injection) so is reserved for babies meeting certain criteria.

Question 222

What is Meconium aspiration syndrome?

Answer 222

Meconium is usually released from the bowels after birth, but in 8-25% of pregnancies, the baby can pass meconium in utero. Leading to leading to meconium stained amniotic fluid MSAF. Of these, 5-12% of babies can aspirate on the meconium stained amniotic fluid and develop Meconium aspiration syndrome MAS can cause new born to develop respiratory distress – The meconium is a lung irritant and can lead to mechanical obstruction and chemical pneumonitis

Question 223

What are some risk factors for MAS?

Answer 223

Not fully understood. thought to be = anything that causes hypoxia/gasping - Gestational age >42 weeks - Foetal distress (tacy/bradycardia) - Chorioamnionitis - Oligohydramnios - IUGR Maternal hypertension, Diabetes, Preeclampsia., smoking/drug abuse

Question 224

As mentioned, MAS is caused by aspirating on Meconium stained amniotic fluid - how does MSAF come about and what can this go on to do?

Answer 224

MSAF is the after-effect of **in-utero peristalsis.** - The peristalsis usually is the result of **foetal hypoxic stress or vagal stimulation** due to cord compression. - Some evidence that chronic hypoxia can cause MSAF as well These factors can also lead to foetal gasping which results in MAS.

Question 225

What are some features that you would see in meconium aspiration syndrome?

Answer 225

- **Partial or Total Airway Obstruction**: It's thick and sticky in consistency, meconium can cause partial or total mechanical airway obstruction --> can lead to **atelectasis, which can increase pulmonary pressures leading to a V/Q mismatch** - **Foetal hypoxia** - **Pulmonary inflammation** - - **Surfactant Inactivation**: The inflammatory reaction caused by meconium deactivates surfactant which increases the surface tension of the alveoli - **Persistent Pulmonary Hypertension (PPHN):** PPHN results from remodelling of the pulmonary vascular bed in response to hypoxia, vasoactive mediators in the meconium and ventilation/perfusion mis-match.

Question 226

What is the treatment of meconium aspiration syndrome?

Answer 226

– Respiratory support (with mechanical ventilation) with anti-inflammatories/pulmonary dilators if pulmonary hypertension Sunctioning

Question 227

What is Hypoxic ischaemic encephalopathy, and what are the causes of it?

Answer 227

(HIE) occurs in neonates as a result of hypoxia during birth. Causes of HIE Anything that leads to asphyxia (deprivation of oxygen) to the brain can cause HIE. - Intrapartum haemorrhage - Nuchal cord, where cord is wrapped around babies neck - Prolonged uterine contractions - Interruption of umbilical blood flow - cord compression, shoulder dystocia, cord prolapse - Poor paternal placental perfusion, - Twin to twin transfusion, maternal hypotension or hypertension - IUGR - Anaemia

Question 228

What are some signs of Hypoxic ischaemic encephalopathy?

Answer 228

– Reduced level of consciousness – Reduced muscle tone and reflexes – Seizures – Inability to feed – Respiratory distress with difficulty in maintaining adequate respiration

Question 229

What is the management of HIE?

Answer 229

This involves supportive care with neonatal resuscitation and ongoing optimal ventilation, circulatory support, nutrition, acid base balance and treatment of seizures. Therapeutic hypothermia is an option in certain circumstances to help protect the brain from hypoxic injury. The temperature is carefully monitored with a target of **between 33 and 34°C,** measured using a rectal probe. This is **continued for 72 hours**, after which the baby is gradually warmed to a normal temperature over 6 hours.

Question 230

What are the common neonatal infections that make up the TORCH acryonym? When is transmission most likely?

Answer 230

TORCH infection – toxoplasmosis, other (syphilis, varicella-zoster, parvovirus B19), rubella, cytomegalovirus, herpes As a rule, the likelihood of transmission to a fetus is greatest when primary maternal infection occurs.

Question 231

What are some features/consequences of toxoplasmosis infection?

Answer 231

There is a classic triad of features in congenital toxoplasmosis: - Hydrocephalus - Intracranial Calcifications (calcium deposits in the brain) - Chorioretinitis (inflammation of the choroid and retina of eye) HIC

Question 232

What are some features of Congenital cytomegalovirus?

Answer 232

The features of congenital CMV are: Fetal growth restriction, low birth weight Microcephaly Hearing loss Vision loss Learning disability Seizures

Question 233

When is jaundice in a baby pathological, and when do you need For both term and preterm

Answer 233

within first 24 hours of life - need to exclude haemolysis *(haemytic disease of newborn or G6PD deficiency) - look for Direct Coombes Test, Hb values Physiological jaundice, normal setttles after 2 weeks After 2 weeks often normal, but need to investigate for other things, Like TFTs and UTIs - will need to look at conjugated fraction for biliary artresia biliary atresia, galactosemia or hypothyroidism. Term: jaundice is normal up to 14 days (1 mark) Preterm: jaundice normal up to 21 days

Question 234

What are some causes of neonatal jaundice, that can be described as down to increased production of bilirubin

Answer 234

- Haemolytic disease of newborn - ABO compatibility - G6PD - Polycythaemia - Sepsis, and DIC - A Haemorrhage, ie intraventricular, Bruising at birth can lead to elevated bilirubin levels (due to hemolysis) - say if delviered with intstrumetns and got bruisinig

Question 235

What are some causes of neonatal jaundice, that can be described as down to reduced clearance of bilirubin

Answer 235

Prematurity Breast milk jaundice Neonatal cholestasis Extrahepatic biliary atresia Endocrine disorders (hypothyroid and hypopituitary) Gilbert syndrome

Question 236

What are some investigations you could do a in a jaundiced baby?

Answer 236

Full blood count and blood film for polycythaemia or anaemia Conjugated bilirubin: elevated levels indicate a hepatobiliary cause BBT - Bedisde bilirrubin test Blood type testing of mother and baby for ABO or rhesus incompatibility Direct Coombs Test (direct antiglobulin test) for haemolysis Blood and urine cultures if infection is suspected. Suspected sepsis needs treatment with antibiotics. After 2 weeks - will need to look at conjugated fraction for biliary artresia Glucose-6-phosphate-dehydrogenase (G6PD) levels for G6PD deficiency

Question 237

What is Kernicterus? What are its main causes?

Answer 237

Kernicterus is a type of brain damage caused by excessive **unconjugated** bilirubin levels, as it can cross the blood brain barrier haemolysis, prematurity, sepsis, dehydration, hypothyroid, metabolic disease are most common causes Very rare in the UK - due to antenatal and post natal care

Question 238

How does kernicterus present and what can it lead to?

Answer 238

lethargy and poor feeding. In severe cases, there is irritability, increased muscle tone causing the baby to lie with an arched back (opisthotonos), seizures and coma The damage to the nervous system is permeant, causing cerebral palsy, learning disability and deafness

Question 239

How can you treat and prevent kernictus?

Answer 239

Phototherapy Blood trasnfusion Determine values?

Question 240

What is necrotizing enterocolitis?

Answer 240

Inflammation and necrosis of a portion of the GI tract, due to a combination of ischemia and infection. That exact underlying cause is unclear Bacterial invasion and ischemia of the large bowel.

Question 241

Name some risk factors for getting Necrotising entercolitis.

Answer 241

Very low birth weight or very premature Formula feeds (it is less common in babies fed by breast milk feeds) Respiratory distress and assisted ventilation Sepsis Antibiotic use in newborns Patient ductus arteriosus and other congenital heart disease

Question 242

What are some presenting features of necrotising enterocolitis

Answer 242

Intolerance to feeds Vomiting, particularly with green bile (billious) Generally unwell Distended, tender abdomen Absent bowel sounds Blood in stools When perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.

Question 243

What are some investigations for necrotising entercolitis?

Answer 243

Blood tests: Full blood count for thrombocytopenia and neutropenia CRP for inflammation Capillary blood gas will show a metabolic acidosis - due to lactate acid build up, renal impairment, shock/hypoperfusion and inflammatory response Blood culture for sepsis A**bdominal xray** is the investigation of choice for diagnosis. This is done front on in the supine position (lying face up). *can show: dilated bowel loops, bowel wall oedma, intramural gas,*

Question 244

What features will you see on xray in necrotising entercolitis?

Answer 244

Dilated loops of bowel Bowel wall oedema (thickened bowel walls) Pneumatosis intestinalis is gas in the bowel wall (intramural air) Pneumoperitoneum is free gas in the peritoneal cavity and indicates perforation Gas in the portal veins

Question 245

What is the management for necrotising entercolitis?

Answer 245

**nil by mouth** with IV fluids, total parenteral nutrition (TPN) and broad specturm antibiotics to stabilise them. - **benzylpenicillin, gentamicin, and metronidazole** nasogastric tube can be inserted to drain fluid and gas from the stomach and intestines. Laporotomy (incision in abdomen)/Surgery to remove dead bowel, may need tempoary stoma

Question 246

What is Gastroschisis?

Answer 246

Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a hole next to the belly button. Unlinke in exophalos, the gut is not contained in a sac of amniotic membrane and peritoneum **IT CAN BE DETECTED ON ANTENATAL SCANS**

Question 247

What is the management of Gastroschisis?

Answer 247

Immediate: cover the exposed bowel with Clingfilm™. (lol) * Keep the baby warm and hydrated. AXR is unnecessary. * Surgery: the defect requires surgical closure as rapidly as possible. Often this has to be staged using a silo because the abdomen is too small to accommodate the intestine. total parenteral nutrition may be required for many weeks because intestinal function is slow to resume after the abdominal wall is closed.

Question 248

Whats exomphalmos, what is it assossciated with and what is its managemetn?

Answer 248

In exomphalos (also known as an omphalocoele) the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum. Associations Beckwith-Wiedemann syndrome Down's syndrome cardiac and kidney malformations Management caesarean section is indicated to reduce the risk of sac rupture a **staged repair may be undertaken as primary closure may be difficult due to lack of space/high intra-abdominal pressure**

Question 249

What is an oesophageal atresia? What other condition does it often happen alongside?

Answer 249

The upper part of the esophagus doesn't connect with the lower esophagus and stomach. It usually ends in a pouch, which means food can't reach the stomach. It often happens along with another birth defect called a tracheo-oesophageal fistula, which is a connection between the lower part of the oesophagus and the windpipe (trachea).

Question 250

Give causes of small bowel obstruction in a neonate. What genetic conditions is seen with some of these causes?

Answer 250

Duodenal atresia and stenosis = one third of these have down syndrome Artresia or stenosis of jejunum and ileum Malrotation, with volvulus = can lead to infarction of entire midgut Meconium ileus - thick putty like meconium, becomes IMPACTED IN THE LOWER ILEUM - ALMOST ALL AFFECTED NEONATES HAVE CYSTIC FIBROSIS

Question 251

What are some things you'd see in the presentation of a small bowel obstruction?

Answer 251

Persistent vomiting. This may be bilious, containing bright green bile. Abdominal pain and distention Failure to pass stools or wind Abnormal bowel sounds. These can be high-pitched and “tinkling” early in the obstruction and absent later. Vomiting will be Bile stained unless s bile stained unless the obstruction is above the ampulla of Vater.

Question 252

What would you see on xray in duodenal artresia?

Answer 252

a ‘double bubble’ from distension of the stomach and duodenal cap. Collapsed loops of bowel distal to the obstruction. There will also be absence of air in the rectum. There is absence of air distally

Question 253

What is the treatment of artresia/stenosis/malrotation of the bowel in neonates?

Answer 253

Atresia or stenosis of the bowel and malrotation are treated surgically, In the mean time make them nil by mouth and inserting a nasogastric tube to help drain the stomach and stop the vomiting, and correct fluid and electrolyte depletion.

Question 254

What are some features of foetus that are associated with maternal hyperthyroidism? What percentage of newborn infants are hyperthyroid, where the mothers have or have had graves disease?

Answer 254

fetal tachycardia on the CTG (cardiotocography) trace, and fetal goitre may be evident on ultrasound. *If mothers have or have had Graves disease, 1–2% of their newborn infants are hyperthyroid. This is due to circulating thyroid stimulating immunoglobulin (also called TSH receptor antibody, TSHR-Ab), which crosses the placenta and binds to TSH receptors, stimulating fetal thyroid hormone production.*

Question 255

What are signs of hyperthyroidism in the neonate

Answer 255

irritability, weight loss, tachycardia, heart failure, diarrhoea and exophthalmos in the first 2 weeks of life. Treat with anti thyroid drugs until condition resolves.

Question 256

What are some risk factors for newborns being hypoglycaemic?

Answer 256

There is no agreed definition of neonatal hypoglycaemia but a figure of < 2.6 mmol/L is used in many guidelines. Transient hypoglycaemia in the first hours after birth is common. Persistent/severe hypoglycaemia may be caused by: preterm birth (< 37 weeks) maternal diabetes mellitus IUGR hypothermia neonatal sepsis inborn errors of metabolism

Question 257

What is the management of neonatal hypoglycaemia?

Answer 257

Management depends on the severity of the hypoglycaemia and if the newborn is symptomatic asymptomatic encourage normal feeding (breast or bottle) monitor blood glucose symptomatic or very low blood glucose admit to the neonatal unit intravenous infusion of 10% dextrose

Question 258

What are some common bacteria to cause Neonatal sepsis?

Answer 258

Group B Strep E Coli Listeria Monocytogenes

Question 259

What are some signs and symptoms of Neonatal sepsis

Answer 259

Fever or temperature instability or hypothermia * Poor feeding * Vomiting * Apnoea and bradycardia * **Respiratory distress** * **Grunting** * Abdominal distension * Jaundice * Neutropenia * Hypoglycaemia/hyperglycaemia * Shock * Irritability * Seizures * Lethargy, drowsiness **Neonatal sepsis should be considered in infants with vague signs such as poor feeding, grunting, lethargy** **Grunting and other signs of respiratory distress are the most common presentation of neonatal sepsis**

Question 260

What are some risk factors that may make neonatal sepsis more likely?

Answer 260

Maternal infection, Prematurity, Early rupture of membrane, - *a rupture of the (amniotic sac) before labor begins* Prolonged rupture of membranes (PROM), - *rupture of membranes lasting longer than 18-24 hours* Chorioamnionitis. -*Chorioamnionitis is an infection of the chorioamniotic membranes and amniotic fluid.*

Question 261

What is the management of Neonatal sepsis

Answer 261

Intravenous antibiotics are given to cover group B streptococci, L. monocytogenes and other Gram-positive organisms (usually benzylpenicillin or amoxicillin), combined with cover for Gramnegative organisms (usually an aminoglycoside such as gentamicin). **Basically Benzylpenicillin and Gentamicin** Do lumbar puncture if bloods are positive/there is Neurosigns

Question 262

What can listeria infection do in a mother? How can it be caught?

Answer 262

It causes a bacteraemia, often with mild, influenza-like illness in the mother and passage to the fetus via the placenta. Listeria is typically transmitted by unpasteurised dairy products, processed meats and contaminated foods. Pregnant women are advised to avoid high-risk foods (e.g. blue cheese) and practice good food hygiene.

Question 263

What can a listeria infection do to a foetus? What are some key signs of it?

Answer 263

It causes a bacteremia, often with mild, influenza-like illness in the mother and passage to the fetus via the placenta. Maternal infection may cause spontaneous abortion, preterm delivery or fetal/neonatal sepsis. meconium staining of the amniotic fluid which is unusual in preterm infants, a widespread rash, septicemia, pneumonia, and meningitis.

Question 264

What antx would you give to treat a listeria infection?

Answer 264

IV Amoxicillin and Gentamicin.

Question 265

What is the most common cause of Encephalitis, in a) Children b) Neonates

Answer 265

In children the most common cause is herpes simple type 1 (HSV-1) from cold sores. Neonates it is herpes simplex type 2 (HSV-2) from genital herpes, contracted during birth.

Question 266

What are some investigations for Encephalitis?

Answer 266

Children with features of encephalitis need some key investigations to establish the diagnosis: Lumbar puncture, sending cerebrospinal fluid for viral PCR testing CT scan if a lumbar puncture is contraindicated MRI scan after the lumbar puncture to visualise the brain in detail EEG recording can be helpful in mild or ambiguous symptoms but is not always routinely required Swabs of other areas can help establish the causative organism, such as throat and vesicle swabs HIV testing is recommended in all patients with encephalitis Contraindications to a lumbar puncture include a GCS below 9, haemodynamically unstable, active seizures or post-ictal.

Question 267

What is the management for encephalitis?

Answer 267

Intravenous antiviral medications are used to treat the suspected or confirmed underlying cause: Aciclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV) Ganciclovir treat cytomegalovirus (CMV) Repeat lumbar puncture is usually performed to ensure successful treatment prior to stopping antivirals **Aciclovir is usually started empirically in suspected encephalitis** until results are available. Other viral causes have no effective treatment and management is supportive.

Question 268

What is cleft lip? What is cleft palate, and what can it lead to ?

Answer 268

Cleft lip is a congenital condition where there is a split or open section of the upper lip Cleft palate is where a defect exists in the hard or soft palate at the roof of the mouth. This leaves an opening between the mouth and the nasal cavity. Cleft lip and cleft palate can occur together or on their own.

Question 269

What are some complications of cleft lip/palate? What is the management?

Answer 269

Can cause problems with feeding, swallowing and speech. Can also affect bonding between mother and child The first priority is to ensure the baby can eat and drink. This may involve specially shaped bottles and teats. The definitive treatment is to surgically correct the cleft lip or palate. This leaves a subtle scar, but is generally very successful, giving full functionality to the child. Cleft lip surgery is usually performed at 3 months, whilst cleft palate surgery done at 6 – 12 month

Question 270

What are the 4 domains of child development?

Answer 270

1. Gross motor. 2. Fine motor and vision. 3. Speech, language and hearing. 4. Social interaction and self care skills.

Question 271

What are the developmental milestones for gross motor function?

Answer 271

- 3m: lifts head on tummy. - 6m: chest up with arm support, can sit unsupported. - 8m: crawling. - 9m: pulls to stand. - 12m: walking. - 2 years: walking up stairs. - 3 years: jumping. - 4 years: hopping. - 5 years: rides a bike.

Question 272

With regards to gross motor development, at what age would you expect a child to do the following: a) walking. b) jumping. c) crawling. d) walking up stairs.

Answer 272

a) Walking - 12 months. b) Jumping - 3 years. c) Crawling - 8 months. d) Walking up stairs - 2 years.

Question 273

What are the developmental milestones for fine motor and visual function?

Answer 273

- 4m: grabs an object using both hands. - 8m: takes objects in each hand. - 12m: scribbles with crayons e.g. circle, cross, square, **also have pincer grip but 12 months** - 18m: builds a tower of 2 cubes. - 3 years: builds a tower of 8 cubes.

Question 274

What are the developmental milestones for social interaction and self-care skills?

Answer 274

- 6 weeks: smiles. - 6 months: finger feeds. - 7 months - can recognise strangers - 9m: waves bye-bye. - 12m: uses cutlery. - 2 years: undresses, feeds toys. - 3 years: plays with others, names a friend. - 4 years: dresses with no help, plays a board game.

Question 275

When should babies/children receive certain vaccines? How should you adjust vaccines if a baby is premmature?

Answer 275

8 weeks 12 weeks 16 weeks 1 year 3 years and 4 months Babies who were born prematurely should receive their routine vaccinations according to chronological age; there should be no correcting for gestational age. Babies who were born prior to 28 weeks gestation should receive their first set of immunisations at hospital due to risk of apnoea. 6 MEN RAN 6 PUNISHIING RACES 6 MILES MAKING HURTING, PAINFUL MUSLES 4 MEMORIES

Question 276

Against what disease should vaccinations given to children at 8 weeks of age?

Answer 276

1st dose of 6 in 1 vaccine - for **Diptheria, Polio, Tetanus, Whooping cough and Hep B and Haemophilus influenzae B** ***DTP WHH*** Rotavirus vaccine 1st dose MenB vaccine 6 MEN RAN

Question 277

Against what diseases should vaccinations given to children at 12 weeks of age?

Answer 277

2nd dose of 6 in 1 vaccine - for **Diptheria, Polio, Tetanus, Whooping cough and Hep B and Haemophilus influenzae B** 2nd Dose of Rotavirus Pneumococcal vaccine 6 PUNISIHG RACES

Question 278

Against what diseases should vaccinations given to children at 16 weeks of age?

Answer 278

3nd dose of 6 in 1 vaccine - for **Diptheria, Polio, Tetanus, Whooping cough and Hep B and Haemophilus influenzae B** 2nd MenB vaccine 6 MILES

Question 279

What vaccines should be given to children when they're 1 years old

Answer 279

Hib/MenC vaccine (1st dose) MMR vaccine (1st dose) Pneumococcal vaccine (2nd dose) MenB vaccine (3rd dose) MAKING HURTING PAINFUL MUSCLES

Question 280

What vaccines should be given to children when they're 3 and 4 months years old

Answer 280

2nd MMR 4 in 1 pre school booster *The 4-in-1 pre-school booster helps protect children against 4 serious illnesses: diphtheria polio tetanus whooping cough It boosts the protection provided by the 6-in-1 vaccine.* 4 MEMORIES

Question 281

Which vaccines do young people usually receive between the ages of 13 - 18 years?

Answer 281

According to the UK vaccination schedule, young people between the ages of 13-18 years usually receive a combined tetanus, diphtheria, and polio vaccine (Td/IPV) as a booster dose, and the quadrivalent meningococcal conjugate vaccine (MenACWY) which protects against four strains of meningococcal disease (A, C, W, and Y). The Td/IPV booster helps maintain immunity against these three diseases throughout adulthood. The MenACWY vaccine is given to this age group since adolescents have an increased risk of contracting meningococcal disease.

Question 282

Give some examples of live attenuated vaccines

Answer 282

MMR (measles, mumps, rubella), BCG, Chickenpox, Nasal influenza vaccine,

Question 283

Outline A - E radiology approach

Answer 283

Airway, Air trapping? Breathing spaces – Too black? Too white? Cardiac/Mediastinum Diaphragm/Pleura - too high/low? Everything else Apices, Bones, Cardiac, Diaphragm, Edges

Question 284

how can you tell if a xray has been taken on expiration?

Answer 284

Only 3-4 anterior ribs visible Trachea not straight Cooperation (aka getting kid to inspire, is really important !) They should be taken on inspiration!

Question 285

What is seen here

Answer 285

Thymus

Question 286

Outline some of the key steps in a NIPE exam (Head, face, shoulders)

Answer 286

General inspection - **auscultate first!** Head to toe - Fontanelle - Eyes (red reflex, any malformation) - Dysmorphic facial features - Suckle reflex, and feel for cleft palate - Look in Ears - Look at and feel collarbones

Question 287

Outline some of the key steps in a NIPE exam (Abdomen, chest, hands)

Answer 287

Central cap refill palpate for hepato and splenomegaly - if baby is crying, feel in-between breaths *2cm of hepatomegaly can be normal* Apex beat Palpate abdomen Look at hands and fingers - Single palmar crease ?

Question 288

Outline some of the key steps in a NIPE exam (lower limb, genitalia, back )

Answer 288

Do barlows and ortlanis test in hips check external gentialia - feel both testes? (if not, can you feel testicle in inguinal canal)? fused labia? Check patency of anus Femoral pulses! Look at feet, for digits and club foot Look at back, for any dimples in skin/closure of spinal chord

Question 289

Outline some of the key questions to ask in a NIPE exam, and some reflexes you could test

Answer 289

Problems before, during or after birth Method of delivery Any congenital conditions that run in family Breach presentation? Any FH of DDH Any contact w family members outside of europe? for TB screening Moro - Hold baby on forearm with their head on your hand w ohter hand below, and drop head Palmar grasp relfex suckle reflex

Question 290

What are some amber features of the NICE paediatric traffic light system? Activity, colour, fever

Answer 290

No smile * Wakes only with prolonged stimulation * Decreased activity Pallor reported by parent/carer Age 3-6 months, temperature >=39ºC * Fever for >=5 days * Rigors * Swelling of a limb or joint * Non-weight bearing limb/not using an extremity

Question 291

What are some amber features of the NICE paediatric traffic light system? (for under 5 years) Respiratory , and circulation and hydration

Answer 291

Tachycardia: >160 beats/minute, age <12 months >150 beats/minute, age 12-24 months >140 beats/minute, age 2-5 years * Capillary refill time >=3 seconds * Dry mucous membranes Nasal flaring * Tachypnoea: respiratory rate >50 breaths/minute, age 6-12 months; >40 breaths/minute, age >12 months * Oxygen saturation <=95% in air

Question 292

What are some red features of the NICE paediatric traffic light system? (for under 5 years) Activity, colour, fever

Answer 292

Pale/mottled/ashen/blue * No response to social cues * Appears ill to a healthcare professional * Does not wake or if roused does not stay awake * Weak, high-pitched or continuous cry * **Age less than 3 months, temperature >=38°C** * Non-blanching rash * Bulging fontanelle * Neck stiffness * Status epilepticus * Focal neurological signs * Focal seizures

Question 293

What are some red features of the NICE paediatric traffic light system? (for under 5 years) Circulation and hydration, and resp

Answer 293

* Grunting * Tachypnoea: respiratory rate >60 breaths/minute * Moderate or severe chest indrawing * Reduced skin turgor *an oxygen saturation persistently below 92% on room air is suggestive of hypoxia that is severe enough to require an immediate referral, especially when combined with signs of respiratory distress.*

Question 294

What is APGAR scoring? When is it used

Answer 294

The Apgar score is used to assess the health of a newborn baby The Apgar score is assessed twice: One minute after birth: This score helps identify how well the baby tolerated the birthing process. Five minutes after birth: This score shows how well the baby is adapting to the new environment outside the womb. If needed, a third assessment may be done at ten minutes.

Question 295

What Does the Apgar Score Entail? Outline the scoring

Answer 295

Appearance (skin color) Pulse (heart rate) Grimace response (reflexes) Activity (muscle tone) Respiration (breathing rate and effort) 0: Indicates a concerning sign (e.g., no pulse, no movement). 1: Indicates the sign is present but not ideal (e.g., weak cry, slow pulse). 2: Indicates a healthy sign (e.g., strong cry, normal heart rate).

Question 296

Outline whats is seen in APGAR scoring 0-2 for appearance and pulse,

Answer 296

Apgar Score: Appearance: 0: Blue or pale 1: Pink body, blue extremities 2: Completely pink Pulse: 0: Absent 1: Below 100 bpm 2: At least 100 bpm

Question 297

Outline whats is seen in APGAR scoring 0-2 for grimace, activity, and respiration

Answer 297

Grimace: 0: No response 1: Weak grimace 2: Strong cry/pulls away Activity: 0: Limp 1: Some flexion 2: Active motion Respiration: 0: Absent 1: Slow/irregular 2: Strong cry

Question 298

How do you give chest compressions in under 1 year old (infant) Older than one year old adult

Answer 298

two-thumb encircling technique and should be given to infants aged younger than one. 1 hand compressing the lower half of the sternum = used in basic life support for a child aged older than 1 year. 2 hands compressing the upper half of the sternum = used in adult life support. chest compressions should be 100-120/min for both infants and children

Question 299

Outline some of the key poitns from teh basic life support algorthym for chidren where do you check pulses for children and infants whats the ratio of chest compressions to rescue breaths?

Answer 299

give 5 rescue breaths check for signs of circulation infants use **brachial or femoral pulse**, children use **femoral pulse** 15 chest compressions:2 rescue breaths (see above) chest compressions should be 100-120/min for both infants and children depth: depress the lower half of the sternum by at least one-third of the anterior-posterior dimension of the chest (which is approximately 4 cm for an infant and 5 cm for a child)

Question 300

whats the traid seen in shaken baby syndrome?

Answer 300

Encephalopathy Subdural haematoma Retinal haemorrhages ESR

Question 301

How do you work out maintenance fluids in children? What type of fluid is used

Answer 301

For a child weighing ≤10 kg: 100mL/kg/day For a child weighing 10–20 kg: 1000mL/day +50mL/kg/day for each kg >10 kg For a child weighing >20 kg: 1500mL/day+20mL/kg/day for each kg >20 kg **0.9% NaCl + 5% glucose**

Question 302

How do you calculate deficit fluid repalcement?

Answer 302

Estimate dehydration severity (based on clinical signs): Mild: 3–5% of body weight Moderate: 6–9% Severe: ≥10% %dehydration, x weight in kg, x10 Example: A 10% dehydrated 15 kg child: 10×15×10=1500mL Replace deficit fluids: Give half of the deficit volume over the first 8 hours. Give the remaining half over the next 16 hours. Combine with maintenance fluids during rehydration.

Question 303

How do you calculate bolus in children

Answer 303

Standard bolus volume: 10–20mL/kg of isotonic fluid (normal saline 0.9% NaCl or Ringer's lactate). Administer: Over 15–30 minutes. A 10 kg child in shock: 20×10=200mL Over 15–30 minutes.