Bits and bobs Flashcards

1
Q

gene and chromosome cystic fibrosis

A

CFTR - codes a cAMP-regulated chloride channel

F508 on the long arm of chromosome 7

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2
Q

Organisms which may colonise CF patients?

A

Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus

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3
Q

Diagnostic test cystic fibrosis

A

sweat test - high sweat chloride
normal value < 40 mEq/l,
CF indicated by > 60 mEq/l

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4
Q

Cystic fibrosis drug

A

Lumacaftor/Ivacaftor (Orkambi)

Fluclox to prevent s.aureus

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5
Q

Investigation bronchiolitis

A

immunoflurescence of nasal secretions may show RSV

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6
Q

Investigation - pyloric stenosis

A

Ultrasound to visualise thickened pylorus

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7
Q

Blood gas pyloric stenosis

A

Hypochloric, hypokalaemic metabolic alkalosis

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8
Q

Management pyloric stenosis

A

laparoscopic pyloromyotomy

known as Ramstedt’s pyloromyotomy

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9
Q

management of transposition of the great arteries

A
  1. prostaglandin infusion
  2. Balloon septostomy
  3. Open heart surgery
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10
Q

Fever pain score?

A

A score of 2 – 3 gives a 34 – 40% probability (consider abx) and 4 – 5 gives a 62 – 65% probability of bacterial tonsillitis (give abx)

Fever during previous 24 hours
P – Purulence (pus on tonsils)
A – Attended within 3 days of the onset of symptoms
I – Inflamed tonsils (severely inflamed)
N – No cough or coryza

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11
Q

recurrent tonsilitis tonsilectomy criteria

A

> 3 episodes per year for 3 years
5 episodes per year for two years
7 episodes in a single year

  • refer to ENT
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12
Q

what lobe?
seizure

Hallucinations (auditory/gustatory/olfactory), Epigastric rising/Emotional, Automatisms (lip smacking/grabbing/plucking), Deja vu/Dysphasia post-ictal)

A

Temporal lobe (HEAD)

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13
Q

What lobe seizure?

Head/leg movements, posturing, post-ictal weakness, Jacksonian march

A

Frontal lobe (motor)

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14
Q

what lobe seizure?

paraesthesia

A

Parietal lobe (sensory)

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15
Q

what lobe seizure?

floaters/flashes

A

Occipital lobe (visual)

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16
Q

What contraceptives are unaffected by enzyme inducing anti-epleptic drugs?

A

Copper intrauterine device
Progesterone injection (Depo-provera)
Mirena intrauterine system

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17
Q

criteria for diagnosis of rheumatic fever

A

A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus:

Two major criteria OR
One major criteria plus two minor criteria

The mnemonic for the Jones criteria is JONES – FEAR.

Major Criteria:
J – Joint arthritis
O – Organ inflammation, such as carditis
N – Nodules
E – Erythema marginatum rash
S – Sydenham chorea

Minor Criteria:
Fever
ECG Changes (prolonged PR interval) without carditis
Arthralgia without arthritis
Raised inflammatory markers (CRP and ESR)

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18
Q

investigations rheumatic fever

A

Throat swab for bacterial culture
ASO antibody titres
Echocardiogram, ECG and chest xray can assess the heart involvement

A diagnosis of rheumatic fever is made using the Jones criteria

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19
Q

Brain scan where does encephalitis classically affect

A

temporal lobe

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20
Q

inheritance percentages children carrier and affected - autosomal recessive

A

autosomal recessive condition there is a 50% chance that their next child will be a carrier

25% chance that the child will actually have the disease (be homozygous).

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21
Q

pathophysiology ITP

A

Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is an example of a type II hypersensitivity reaction.

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22
Q

when is management indicated for ITP? what are options?

A

If the platelet count is very low (e.g. < 10 * 109/L) or there is significant bleeding.

  • oral/IV corticosteroid eg prednisolone
  • IV immunoglobulins
  • platelet transfusions can be used in an emergency (e.g. active bleeding) but are only a temporary measure as they are soon destroyed by the circulating antibodies
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23
Q

when can children with scarlet fever return to school?

A

24 hours after commencing abx

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24
Q

Hypsarrhythmia on EEG

A

Infantile spasms (west’s syndrome)

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25
What birth defects are sodium valproate associated with
neural tube defects
26
epilepsy management pregnancy
aim for mono therapy lamotrigine is often best choice 5mg folic acid prior to getting pregnant if possible
27
Sections of APGAR score?
Appearance, Pulse, Grimace, Activity, and Respiration each either 2/1/0 Appearance/Colour: pink, peripheral blue, all blue Pulse: >100, <100, absent Reflex irritability: cries on stimulation/sneeze/cough, grimace, nil Muscle tone:active movement, limb flexion, flaccid Respiratory effort:Strong crying, weak irregular, nil
28
Osteogenesis imperfecta on xray
Radiology may show translucent bones, multiple fractures, particularly of the long bones, wormian bones (irregular patches of ossification) and a trefoil pelvis.
29
Normal lumbar puncture result
clear appearance glucose 70% of plasma protein 0.3 g/l WCC 2 per mm^3 (neuts)
30
Bacterial meningitis LP result
Cloudy Glucose low (< 1/2 plasma) bacteria using up the glucose Protein high (> 1 g/l) bacteria releasing proteins WCC 10 - 5,000 polymorphs/mm³ the immune system releases neutrophils in response to bacteria
31
Viral meningitis LP result
Clear/cloudy Glucose 60-80% of plasma glucose* viruses don’t really use glucose Protein normal/raised viruses may release a small amount of protein WCC 15 - 1,000 lymphocytes/mm³ the immune system releases lymphocytes in response to viruses
32
Tuberculous LP result
Slight cloudy, fibrin web glucose Low (< 1/2 plasma) Protein high >1g/l WCC 30-300 lymphocytes/mm3
33
Management of brain abscess?
surgery - craniotomy IV antibiotics: IV 3rd-generation cephalosporin + metronidazole intracranial pressure management: e.g. dexamethasone
34
Pathophysiology Duchenne's muscular dystrophy and beckers?
It is caused by a defective gene for dystrophin on the X-chromosome. Dystrophin is a protein that helps hold muscles together at the cellular level. Becker's muscular dystrophy is very similar to Duchennes, however the dystrophin gene is less severely affected and maintains some of its function.
35
Inheritance Duchenne's and beckers?
X-linked recessive If a mother is a carrier and she has a child, that child will have a 50% chance of being a carrier if they are female and 50% chance of having the condition if they are male Given that boys have a single X-chromosome and girls have two, girls have a spare copy of the dystrophin gene. Female carriers of the condition do not usually notice any symptoms. This makes Duchenne's muscular dystrophy an X-linked recessive condition.
36
when does a limp warrant urgent same day assessment?
if child is <3 years old if child is febrile
37
triad of the shaken baby syndrome
Retinal haemorrhages Subdural haematoma Encephalopathy
38
EEG : 3Hz generalized, symmetrical
absence seizures
39
EEG centro-temporal spikes
Benign rolandic epilepsy
40
GI conditions associated with down's?
duodenal atresia hirschsprung's disease
41
Cardiac complications in down's
multiple cardiac problems may be present endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects) ventricular septal defect (c. 30%) secundum atrial septal defect (c. 10%) tetralogy of Fallot (c. 5%) isolated patent ductus arteriosus (c. 5%)
42
Monitoring in down's
Regular thyroid checks (2 yearly) - at risk of hypothyroidism Echocardiogram - cardiac defects Audiometry regular - hearing impairment - recurrent otitis media and glue ear etc. Regular eye checks - myopia, strabismus, cataracts
43
What type of jaundice causes dark urine and pale stools
In obstructive jaundice (both intrahepatic cholestasis and extrahepatic obstruction) the serum bilirubin is principally conjugated. Conjugated bilirubin is water soluble and is excreted in the urine, giving it a dark colour (bilirubinuria).
44
Defintion nephrotic syndrome
the presence of proteinuria (>3.5 g/24 hours) hypoalbuminaemia (<30 g/L) peripheral oedema.
45
Philadelphia chromosome t(9;22)
chronic myeloid leukemia 65+
46
Most common leukemia in children? triad?
Acute lymphoblastic leukemia anaemia, thrombocytopenia, neutropenia
47
Genetics and inheritance sickle cell
autosomal recessive abnormal variant called haemoglobin S (HbS) abnormal gene for beta-globin on chromosome 11
48
Definitive diagnosis sickle cell disease
haemoglobin electrophoresis
49
Management sickle cell
General: - avoid dehydration and triggers - vaccines inc pneumococcal polysaccharide vaccine every 5 years - abx prophylaxis eg penicillin V - hydroxycarbamide (stimulate fetal HbF) - blood transfusion - bone marrow transplant can be curative vaso-occlusive pripism: - aspiration of blood splenic sequestration: - blood transfusion and fluid resus aplastic: - blood transfusion acute chest: - abx and antivirals - blood trans - ventilation
50
reticulocyte count sickle cell anaemia?
high (needing to constantly make new rbc) may be low in aplastic crisis normal is 0.45–1.8 percent
51
cause of aplastic crisis sickle cell
parovirus B19 reticulocytes may be low
52
gold standard investigations sickle cell
Haemaglobin electrophoresis
53
blood film sickle cell
A blood film shows target cells and Howell-Jolly bodies.
54
ehlers danlos syndrome inheritance pathophysiology cardiac hypermobile scoring
hypermobile, stretchy skin autosomal dominant type 3 collagen aortic regurg,dissection, mitral prolapse beighton score
55
Rotterdam critera
The Rotterdam criteria are used for making a diagnosis of polycystic ovarian syndrome. A diagnosis requires at least two of the three key features: Oligoovulation or anovulation, presenting with irregular or absent menstrual periods (generally defined as fewer than six to nine menstrual cycles per year) Hyperandrogenism, characterised by hirsutism and acne Polycystic ovaries on ultrasound (or ovarian volume of more than 10cm3)
56
Invetsigations PCOS
pelvic ultrasound: transvaginal FSH, LH, prolactin, TSH, and testosterone are useful investigations (raised LH:FSH ratio is a 'classical' feature but is no longer thought to be useful in diagnosis. Prolactin may be normal or mildly elevated. Testosterone may be normal or mildly elevated - however, if markedly raised consider other causes) 2-hour 75g oral glucose tolerance test (OGTT)
57
General management PCOS
weight loss, orlistat if bmi>30
58
Investigations to establish diagnosis of ALL/leukemias
Full blood count, which can show anaemia, leukopenia, thrombocytopenia and high numbers of the abnormal WBCs Blood film, which can show blast cells Bone marrow biopsy Lymph node biopsy
59
murmur turners
ejection systolic murmur due to bicuspid aortic valve A bicuspid aortic valve is an aortic valve that has two flaps (cusps) instead of three. It may cause a narrowed or obstructed aortic valve opening (aortic valve stenosis), or systolic subclavicular from coarctation
60
rotavirus vaccine information
it is an oral, live attenuated vaccine 2 doses are required, the first at 2 months, the second at 3 months the first dose should not be given after 14 weeks + 6 days and the second dose cannot be given after 23 weeks + 6 days due to a theoretical risk of intussusception
61
Contraindications to lumbar puncture
focal neurological signs papilloedema significant bulging of the fontanelle disseminated intravascular coagulation signs of cerebral herniation For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.
62
Degenerative cervical myelopathy
Presentation: myelopathy: pain (affecting the neck, upper or lower limbs) loss of fine motor function (dexterity, clumsy) loss of sensory function causing numbness, loss of autonomic function, hoffmans Causes: Cervical spondylosis (osteophyte), disc herniation Investigation: MRI Management: decompressive surgery
63
Neoplastic spinal cord compression
Presentation: cancer patient, back pain, bilateral weakness, UMN signs. First symptom: back pain Investigation: MRI of whole spine Management: high dose dexamethasone and oncology assessment
64
Brown-sequard syndrome
- ipsilateral dorsal column signs - ipsilateral corticospinal tract signs - contralateral spinothalamic tract signs
65
Subacute combined degeneration of spinal cord
Presentation: bilateral dorsal column signs, may have bilateral corticospinal tract signs (affects posterior cord) Cause: B12 deficiency Prevention: Always replace vitamin B12 before folate - giving folate to a patient deficient in B12 can precipitate subacute combined degeneration of the cord
66
Friedrich’s ataxia
Presentation: teenage corticospinal, spinocerebellar, dorsal column and peripheral nerves Information: autosomal recessive trinucleotide repeat disorder resulting in reduced level or function of the frataxin protein. Investigation: genetic analysis Management: supportive
67
Syringomyelia
Pathophysiology: development of a fluid-filled cyst (a syrinx) around the spinal canal. Causes: Chiari malformation, tumour, trauma Presentation: ‘central cord syndrome’ bilateral spinothalamic and/or bilateral corticospinal tract symptoms. The upper limbs are affected first whilst the lower limbs are spared until much later. As the fibres of the spinothalamic tract enter the spinal cord and immediately decussate, they pass close to the spinal canal, meaning they are often the first of these white matter fibres to be compressed and damaged. As the cervical cord is the most likely location of the lesion, there is classically said to be a “cape-like” loss of pain and temperature sensation. Investigation: full spine MRI with contrast and brain MRI Management: treat cause. If persistent : shunt
68
Lumbar spinal stenosis
Presentation: back pain, bilateral leg weakness or unilateral, positional element: better on walking up hill and sitting forward. Ddx claudication Investigation: MRI Management: Laminectomy
69
Ankylosing spondylitis
Presentation: young man, lower back pain and stiffness, worse in morning Investigation: plain x ray of sacroiliac joints Management: encourage regular exercise such as swimming, NSAIDs are the first-line treatment, physiotherapy
70
Myelopathy vs radiculopathy
Myelopathy: bilateral as spinal cord and bladder/bowel, not always painful “clumsiness” “loss of manual dexterity” Radiculopathy: radiating limb pain, often in the pattern of the dermatome, sharp/shooting in character, with only a small proportion (about 5%) having associated neurologic symptoms such as dermatomal sensory loss, and even less commonly myotomal muscle weakness.
71
Myotomes upper limb
C5 – Elbow flexion (and shoulder abduction) C6 – Wrist extension (and shoulder adduction) (and elbow flexion) C7 – Elbow extension (and wrist flexion) C8 – Finger flexion and thumb extension T1 – Finger abduction
72
Myotomes lower limb
L2 – Hip flexion L3 – Knee extension L4 – Ankle dorsiflexion L5 – Great toe extension S1 – Ankle plantarflexion
73
Dermatome Thumb + index finger
C6
74
Dermatome middle finger + palm of hand
C7
75
Dermatome ring + little finger
C8
76
Dermatome nipples
T4 T4 at the Teat Pore
77
Dermatome xyphoid process
T6
78
Dermatome umbillicus
T10 BellybuT-TEN
79
Dermatome inguinal ligament
L1 L for ligament, 1 for 1nguinal
80
Dermatome knee caps
L4 Down on aLL fours - L4
81
Dermatome big toe, dorsum of foot (except lateral aspect)
L5 Largest of the 5 toes
82
Dermatome Lateral foot, small toe
S1 the smallest 1
83
Dermatome genetalia
S2, S3
84
Cauda equina most common cause
central disc prolapse at L4/5 or L5/S1
85
newborn resus steps
1. Dry baby and maintain temperature 2. Assess tone, respiratory rate, heart rate 3. If gasping or not breathing give 5 inflation breaths* 4. Reassess (chest movements) 5. If the heart rate is not improving and <60bpm start compressions and ventilation breaths at a rate of 3:1
86
child resuscitation
1. Safety 2. Stimulate - put hand on head, shake a limb, flick fingers and toes 3. Shout - 2222 4. Open airway - head tilt-chin lift, jaw thrust if ?spinal injury 5. Look, listen, feel 6. 5 rescue breaths (pinch nose and breathe into their nose) CPR 15 chest compressions, 2 ventilations (1 hand or 2 hands) ⅓ to ½ of chest 100-120 per minute, allow for recoil, lower sternum (for one minute, if no help yet go get help yourself)
87
Parkinsons disease tremor
Unilateral resting tremor (improves with voluntary movement)
88
Causes of drug-induced parkinsonism
Antipsychotics or antiemetic metoclopramide can cause EPSE. In patients with parksinons, prescribe antiemetic domperidone as it doesn’t cross BBB therefore doesn’t cause EPSE
89
Invetsigation lewy-body
SPECT/DaTSCAN
90
When is expectant management of ectopic pregnancy indicated?
size < 35 no pain unruptured no heart beat hCG <1,000IU/L another intrauterine pregnancy Expectant management involves closely monitoring the patient over 48 hours and if B-hCG levels rise again or symptoms manifest intervention is performed.
91
When is methotrexate management of ectopic pregnancy indicated?
size < 35 minimal pain unruptured no heart beat hCG <1,500IU/L must be willing to attend follow up
92
When is surgical management of ectopic pregnancy indicated? options?
size > 35 pain unruptured or ruptured fetal heart beat hCG >5,000IU/L Salpingectomy is first-line for women with no other risk factors for infertility Salpingotomy should be considered for women with risk factors for infertility such as contralateral tube damage
93
Risk factors for ectopic pregnancy
damage to tubes (pelvic inflammatory disease, surgery) previous ectopic endometriosis IUCD progesterone only pill IVF (3% of pregnancies are ectopic)
94
Most common site of ectopic pregnancy
ampulla of fallopian tube
95
The investigation of choice for ectopic pregnancy
transvaginal USS
96
Management of miscarriage <6 weeks gestation?
expectant then pregnancy test in 7-10 days to confirm refer if any pain etc (ectopic?)
97
Management of miscarriage >6 weeks gestation?
refer to early pregnancy assessment service transvaginal USS Expectant : if no infection risk/bleeding risk. pregnancy test in 3 weeks Medical : misoprolol (prostaglandin analogue --> stimulate contractions) Surgical : Manual vacuum aspiration under local anaesthetic as an outpatient or electric vacuum aspiration under general anaesthetic
98
Management of incomplete miscarriage
Medical : misoprolol Surgical: Evacuation of retained products of conception (ERPC)
99
Management intestinal malrotation with volvulus
Ladd's procedure
100
causes pulmonary hypoplasia
oligohydramnios congenital diaphragmatic hernia
101
what is enuresis
'involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract'
102
ToF features
ventricular septal defect (VSD) right ventricular hypertrophy right ventricular outflow tract obstruction, pulmonary stenosis overriding aorta
103
When do pregnant women need prophylaxis for VTE? what prophylaxis is given?
Low molecular weight heparin eg dalteparin, enoxaparin, and tinzaparin If previous DVT Or x number of risk factors: Age > 35 Body mass index > 30 Parity > 3 Smoker Gross varicose veins Current pre-eclampsia Immobility Family history of unprovoked VTE Low risk thrombophilia Multiple pregnancy IVF pregnancy 4 or more risk factors warrants immediate treatment with low molecular weight heparin continued until six weeks postnatal. I 3 risk factors low molecular weight heparin should be initiated from 28 weeks and continued until six weeks postnatal. If diagnosis of DVT is made shortly before delivery, continue anticoagulation treatment for at least 3 month, as in other patients with provoked DVTs.
104
An abortion can be performed before 24 weeks if ?
continuing the pregnancy involves greater risk to the physical or mental health of: The woman Existing children of the family The threshold for when the risk of continuing the pregnancy outweighs the risk of terminating the pregnancy is a matter of clinical judgement and opinion of the medical practitioners.
105
An abortion can be performed at any time during the pregnancy if?
Continuing the pregnancy is likely to risk the life of the woman Terminating the pregnancy will prevent “grave permanent injury” to the physical or mental health of the woman There is “substantial risk” that the child would suffer physical or mental abnormalities making it seriously handicapped
106
trimesters of pregnancy
First Trimester (0 to 13 Weeks) Second Trimester (14 to 26 Weeks) Third Trimester (27 to 40 Weeks)
107
criteria hyperemesis gravidarum
More than 5 % weight loss compared with before pregnancy Dehydration Electrolyte imbalance assess severity with Pregnancy-Unique Quantification of Emesis (PUQE) score. This gives a score out of 15: < 7: Mild 7 – 12: Moderate > 12: Severe
108
when to admit someone with hyperemesis gravidarum
admission should be considered in cases of ketonuria and/or weight loss despite use of oral anitemetics Unable to tolerate oral antiemetics or keep down any fluids More than 5 % weight loss compared with pre-pregnancy Ketones are present in the urine on a urine dipstick (2 + ketones on the urine dipstick is significant) Other medical conditions need treating that required admission
109
associations with hyperemesis gravidarum?
multiple pregnancies trophoblastic disease hyperthyroidism nulliparity obesity Smoking is associated with a decreased incidence of hyperemesis.
110
Types of molar pregnancy
complete - 2 sperm, no genetic material in ovum partial - 2 sperm, genetic material in ovum
111
Presentation, invetsigation and management of molar pregnancy?
More severe morning sickness Vaginal bleeding Increased enlargement of the uterus Abnormally high hCG Thyrotoxicosis (hCG can mimic TSH and stimulate the thyroid to produce excess T3 and T4) Ultrasound of the pelvis shows a characteristic “snowstorm appearance”. histology of material after for diagnostic. 1. referred to the gestational trophoblastic disease centre 2. evacuation of uterus 3. effective contraception is recommended to avoid pregnancy in the next 12 months 4. monitor hCG until normal 5. check for choriocarcinoma
112
Glasgow coma scale components and scoring
Glasgow coma scale (GCS) out of 15 Motor response 6. Obeys commands 5. Localises to pain 4. Withdraws from pain 3. Abnormal flexion to pain (decorticate posture) 2. Extending to pain 1. None Verbal response 5. Orientated 4. Confused 3. Words 2. Sounds 1. None Eye opening 4. Spontaneous 3. To speech 2. To pain 1. None
113
MRC power grades
Grade 0 No muscle movement Grade 1 Trace of contraction Grade 2 Movement at the joint with gravity eliminated Grade 3 Movement against gravity, but not against added resistance Grade 4 Movement against an external resistance with reduced strength Grade 5 Normal strength
114
Reflex nerve roots
Ankle = S1 Miss out 2 Knee = L3,4 Brachioradialis = C5,6 Biceps = C5,6 Triceps = C7
115
Causes and ddx features cranial third nerve palsy
Surgical third nerve palsy : painful, dilated pupil Diabetes : not painful, reactive pupil
116
Bell's palsy presentation and management
lower motor neuron facial nerve palsy - forehead affected oral prednisolone within 72 hours if the paralysis shows no sign of improvement after 3 weeks, refer urgently to ENT
117
Triple assessment breast
Clinical assessment (history and examination) Imaging (ultrasound or mammography) Histology (fine needle aspiration or core biopsy)
118
When should IV thrombolysis with mechanical thrombectomy be offered for ischaemic stroke?
Thrombectomy within 6 hours of onset Thrombolysis within 4.5 hours onset Both if occlusion if proximal anterior circulation on CTA or MRA
119
Wernikes aphasia Presentation Location
Receptive aphasia Fluent speech, doesn’t make any sense, comprehension impaired Lesion in superior temporal gurus Supplied by inferior division of left MCA
120
Brocas aphasia Presentation Location Blood supply
Non-fluent laboured and halting speech. Repetition impaired (expressive) Inferior frontal gyrus Superior division of left MCA Spoken word is heard at the ear. This passes to Wernicke's area in the temporal lobe (near the ear) to comprehend what was said. Once understood, the signal passes along the arcuate fasciculus, before reaching Broca's area. The Broca's area in the frontal lobe (near the mouth) then generates a signal to coordinate the mouth to speak what is thought (fluent speech).
121
Conduction aphasia Presentation Location
Speech fluent but repetition is poor Aware of errors Arcuate fasiculus (connection between brocas and wernikes) Spoken word is heard at the ear. This passes to Wernicke's area in the temporal lobe (near the ear) to comprehend what was said. Once understood, the signal passes along the arcuate fasciculus, before reaching Broca's area. The Broca's area in the frontal lobe (near the mouth) then generates a signal to coordinate the mouth to speak what is thought (fluent speech).
122
UMN signs
Minimal muscle atrophy Weakness ‘Pyramidal’ pattern i.e. weakness of upper limb extensors, lower limb flexors So upper limb is flexed and lower limb extended (think hemiplegic gait) Slightly reduced power Hyperreflexia of deep tendon reflexes- as no UMN regulating that reflex Absent superficial reflex - babinski positive Hypertonia + or - clonus (Spasticity occurs in pyramidal tract lesions) such as clonus and clasp-knife rigidity Pronator drift
123
management of extradural hematoma
stabilising the patient followed by surgical intervention with a burr hole or craniotomy to evacuate the haematoma.
124
blood vessel implicated by extradural hematoma
middle meningeal artery eminem getting hit by a lemon
125
ct scan subdural hematoma
concave crescent-shaped
126
blood vessel implicated in subdural hematoma
bridging veins old man drinking alcohol in a cave with a bridge outside and a crescent moon in the sky
127
management subdural hematoma
Small or incidental acute subdurals can be observed conservatively. If big or signs then surgical options include monitoring of intracranial pressure and decompressive craniectomy.
128
Causes SAH
Ruptured cerebral aneurysm or trauma
129
conditions associated with berry aneurysms
adult polycystic kidney disease Ehlers-Danlos syndrome Coarctation of the aorta
130
ct scan for SAH
Acute blood (hyperdense/bright on CT) is typically distributed in the basal cisterns, sulci and in severe cases the ventricular system. may be normal - do LP
131
lumbar puncture for SAH
LP is performed at least 12 hours following the onset of symptoms to allow the development of xanthochromia (the result of red blood cell breakdown). Xanthochromia helps to distinguish true SAH from a ‘traumatic tap’ (blood introduced by the LP procedure). As well as xanthochromia, CSF findings consistent with subarachnoid haemorrhage include a normal or raised opening pressure
132
invetsigation after spontaneous SAH confirmed?
CT intracranial angiogram
133
Management SAH
1. referral to neurosurgery after confirmation 2. coil by interventional radiologists 3. or craniotomy 4. 21-day course of nimodipine (a calcium channel inhibitor targeting the brain vasculature) 5. Hydrocephalus is temporarily treated with an external ventricular drain
134
treatment of radiculopathy
Similar to that of other musculoskeletal lower back pain: analgesia, physiotherapy, exercises If symptoms persist after 4-6 weeks then referral for consideration of MRI is appropriate
135
narcolepsy associations
associated with HLA-DR2 it is associated with low levels of orexin (hypocretin), a protein which is responsible for controlling appetite and sleep patterns early onset of REM sleep
136
features narcolepsy
typical onset in teenage years hypersomnolence cataplexy (sudden loss of muscle tone often triggered by emotion) sleep paralysis vivid hallucinations on going to sleep or waking up
137
investiagtions narcolepsy
multiple sleep latency EEG
138
management narcolepsy
daytime stimulants (e.g. modafinil) and nighttime sodium oxybate
139
Managing Hirsutism PCOS
weight loss Co-cyprindiol (Dianette) for 3 months* Topical eflornithine Specialist: Electrolysis Laser hair removal Spironolactone (mineralocorticoid antagonist with anti-androgen effects) Finasteride (5α-reductase inhibitor that decreases testosterone production) Flutamide (non-steroidal anti-androgen) Cyproterone acetate (anti-androgen and progestin)
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Management acne PCOS
Co-cyprindiol (Dianette) for 3 months* Topical adapalene (a retinoid) Topical antibiotics (e.g. clindamycin 1% with benzoyl peroxide 5%) Topical azelaic acid 20% Oral tetracycline antibiotics (e.g. lymecycline)
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Managing infertility PCOS
weight loss Clomifene (causes ovulation, selective estrogen receptor modulator (SERM).) Laparoscopic ovarian drilling In vitro fertilisation (IVF)
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reducing risk of endometrial cancer pcos
Mirena coil for continuous endometrial protection Inducing a withdrawal bleed at least every 3 – 4 months with either: Cyclical progestogens (e.g. medroxyprogesterone acetate 10mg once a day for 14 days) Combined oral contraceptive pill
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PCOS blood results
high LH high LH:FSH ratio
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turners blood results
high LH and FSH
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management turner syndrome
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
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inheritance androgen insensitivity syndrome?
x linked
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blood results androgen insensitivity syndrome
High LH, High/normal testosterone
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diagnostic invetsigation androgen insensitivity
buccal smear or chromosomal analysis to reveal 46XY genotype
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Presentation of CAH neonate? why?
Hyponautramia, shocked, hyperkalaemia Poor feeding Vomiting Dehydration Arrhythmias as aldosterone is low so not adequate resorption of sodium and water/excretion of potassium
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most common cause CAH? others?
21-hydroxylase deficiency 11-beta hydroxylase deficiency (5%) 17-hydroxylase deficiency (very rare)
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inheritance CAH
autosomal recessive
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Management CAH
Hydrocortisone- Cortisol replacement Fludrocortisone - Aldosterone replacement Female patients with “virilised” genitals may require corrective surgery
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Pathophysiology CAH
21-hydroxylase deficiency (90%) (responsible for biosynthesis of aldosterone + cortisol) 21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme. In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with low aldosterone, low cortisol and abnormally high testosterone. High progesterone also seems to inhibit menstruation and so leads to primary or secondary amenorrhoea.
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Most common cause of secondary amenorrhoea
pregnancy
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what is hypothalamic amenorrhoea
The hypothalamus reduces the production of GnRH in response to significant physiological or psychological stress. This leads to hypogonadotropic hypogonadism and amenorrhoea. The hypothalamus responds this way to prevent pregnancy in situations where the body may not be fit for it, for example: Excessive exercise (e.g. athletes) Low body weight and eating disorders Chronic disease Psychological stress
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what type of amenorrhoea would prolactin secreting pituitary tumour cause
High prolactin levels act on the hypothalamus to prevent the release of GnRH. Without GnRH, there is no release of LH and FSH. This causes hypogonadotropic hypogonadism. eg pituitary adenoma
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what is sheehans syndrome
Sheehan's syndrome (SS) is postpartum hypopituitarism caused by necrosis of the pituitary gland. It is usually the result of severe hypotension or shock caused by massive hemorrhage during or after delivery. Patients with SS have varying degrees of anterior pituitary hormone deficiency.
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definition secondary amenorrhoea
Cessation of menstruation for 3-6 months in women with previously normal and regular menses, or 6-12 months in women with previous oligomenorrhea
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define premature ovarian insufficiency
menopause before the age of 40 years
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blood results premature ovarian insufficiency
Raised LH and FSH levels (gonadotropins) Low oestradiol levels hypergonadotrophic hypogonadism
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diagnosis of premature ovarian insufficiency
FSH level persistently raised (more than 25 IU/l) on two consecutive samples separated by more than four weeks to make a diagnosis. menopause symptoms
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Management of premature ovarian insufficiency
Traditional hormone replacement therapy Combined oral contraceptive pill Adequate vitamin D and calcium intake
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Diagnosing menopause
A diagnosis of perimenopause and menopause can be made in women over 45 years with typical symptoms, without performing any investigations. NICE guidelines (2015) recommend considering an FSH blood test to help with the diagnosis in: Women under 40 years with suspected premature menopause Women aged 40 – 45 years with menopausal symptoms or a change in the menstrual cycle
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Ashermans presentation
presents following recent dilatation and curettage, uterine surgery or endometritis with: Secondary amenorrhoea (absent periods) Significantly lighter periods Dysmenorrhoea (painful periods)
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Ashermans diagnosis and management
Hysteroscopy is the gold standard investigation, and can involve dissection and treatment of the adhesions reoccurence is common
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treatment vasomotor symptoms menopause
fluoxetine, citalopram or venlafaxine
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hCG interuterine pregnancy ectopic miscarriage
The developing syncytiotrophoblast of the pregnancy produces hCG. In an intrauterine pregnancy, the hCG will roughly double every 48 hours. This will not be the case in a miscarriage or ectopic pregnancy. A rise of more than 63% after 48 hours is likely to indicate an intrauterine pregnancy. A repeat ultrasound scan is required after 1 – 2 weeks to confirm an intrauterine pregnancy. A pregnancy should be visible on an ultrasound scan once the hCG level is above 1500 IU / l. A rise of less than 63% after 48 hours may indicate an ectopic pregnancy. When this happens the patient needs close monitoring and review. A fall of more than 50% is likely to indicate a miscarriage. A urine pregnancy test should be performed after 2 weeks to confirm the miscarriage is complete.
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Blood results rickets? vit D calcium phosphate ALP parathyroid hormone
Serum 25-hydroxyvitamin D - less than 25 nmol/L is deficient Serum calcium may be low Serum phosphate may be low Serum alkaline phosphatase may be high Parathyroid hormone may be high
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management rickets
Vitamin D (ergocalciferol). children between 6 months and 12 years is 6,000 IU per day for 8 – 12 weeks.
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diagnosis rickets
need xray
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most common cause of disproportionate short stature
achondroplasia
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maintenance fluids neonates
10% dextrose Day 1 – 60 mls/kg/day Day 2 – 90 mls/kg/day Day 3 – 120 mls/kg/day Day 4 – 150 mls/kg/day From day 2 Na 3 mmol/kg/day K 2 mmol/kg/day Ca 1 mmol/kg/day (rarely)
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estimating weight ?
(Age + 4) x2 = weight in kg
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maintenance fluids children
0.9% sodium chloride + 5% glucose (+/- KCl) Weight Daily (ml/24h) First 10 kg 100 ml/kg Next 10 kg 50 ml/kg Every other kg 20 ml/kg Rate (ml/h): Total (ml) / 24
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signs of shock % defecit?
Reduced consciousness Cold, mottled peripheries Low blood pressure Prolonged capillary refill time Weak peripheral pulses Anuria 10%
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signs of dehydration %defecit?
Thirst Dry lips Restlessness, irritability Sunken eyes Reduced skin turgor Decreased urine output Altered responsiveness Normal blood pressure Normal CRT Skin colour normal 5%
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calculating fluids to correct deficit
Deficit(%) x 10 x Wt(kg) + maintenance
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hydration if can tolerate oral
give 50 ml/kg low osmolarity oral rehydration solution (ORS) solution over 4 hours, plus ORS solution for maintenance, often and in small amounts continue breastfeeding consider supplementing with usual fluids (including milk feeds or water, but not fruit juices or carbonated drinks)
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what bolus would you give in shock
20 mls/kg of 0.9% sodium chloride bolus (note: no glucose) 10ml/kg more appropriate on some occasions eg cardiac, kidneys, DKA Seek expert advice (for example, from the paediatric intensive care team) if 40–60 ml/kg of IV fluid or more is needed as part of the initial fluid resuscitation.
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signs of hypernautraemic dehydration?
jittery movements increased muscle tone hyperreflexia convulsions drowsiness or coma
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What is PPH
bleeding after delivery of the baby and placenta 500ml after a vaginal delivery 1000ml after a Caesarean section
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Severity of PPH blood loss
Minor <1000 Moderate 1000-2000 Major >2000
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Primary vs secondary PPH
Primary - within 24 hours of birth Secondary > 24 hours after birth
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Causes of PPH
T – Tone (uterine atony – the most common cause) T – Trauma (e.g. perineal tear) T – Tissue (retained placenta) T – Thrombin (bleeding disorder
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Risk factors PPH
Previous PPH Multiple pregnancy Obesity Large baby Failure to progress in the second stage of labour Prolonged third stage Pre-eclampsia Placenta accreta Retained placenta Instrumental delivery General anaesthesia Episiotomy or perineal tear
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Preventing PPH
Treating anaemia during the antenatal period Giving birth with an empty bladder (a full bladder reduces uterine contraction) Active management of the third stage (with intramuscular oxytocin in the third stage) Intravenous tranexamic acid can be used during caesarean section (in the third stage) in higher-risk patients
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Management PPH
Resuscitation with an ABCDE approach Lie the woman flat, keep her warm and communicate with her and the partner Insert two large-bore cannulas Bloods for FBC, U&E and clotting screen Group and cross match 4 units Warmed IV fluid and blood resuscitation as required Oxygen (regardless of saturations) Fresh frozen plasma is used where there are clotting abnormalities or after 4 units of blood transfusion
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Mechanical treatments to stop bleeding in PPH
- rubbing uterus/fundus - catheter
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Medical treatments to stop bleeding in PPH
Oxytocin (slow injection followed by continuous infusion) 40 units in 500ml Ergometrine (intravenous or intramuscular) stimulates smooth muscle contraction (contraindicated in hypertension) Carboprost (intramuscular) is a prostaglandin analogue and stimulates uterine contraction (caution in asthma) Misoprostol (sublingual) is also a prostaglandin analogue and stimulates uterine contraction Tranexamic acid (intravenous) is an antifibrinolytic that reduces bleeding
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Surgical management to stop bleeding PPH
Intrauterine balloon tamponade – inserting an inflatable balloon into the uterus to press against the bleeding B-Lynch suture – putting a suture around the uterus to compress it Uterine artery ligation – ligation of one or more of the arteries supplying the uterus to reduce the blood flow Hysterectomy is the “last resort” but will stop the bleeding and may save the woman’s life
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Causes of secondary PPH
- retained products of conception - infection (endometritis)
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Investigations for secondary PPH
- USS for RPOC - high vaginal swab for infection
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Abdo USS whirlpool pattern
Ovarian torsion
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When do you give anti-D to non-sensitised Rh -ve mother’s?
28 and 34 weeks
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In what situations should an anti-D be given within 72 hours
delivery of a Rh +ve infant, whether live or stillborn any termination of pregnancy miscarriage if gestation is > 12 weeks ectopic pregnancy (if managed surgically, if managed medically with methotrexate anti-D is not required) external cephalic version antepartum haemorrhage amniocentesis, chorionic villus sampling, fetal blood sampling abdominal trauma
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Tests for rehusus sensitisation ?
all babies born to Rh -ve mother should have cord blood taken at delivery for FBC, blood group & direct Coombs test Coombs test: direct antiglobulin, will demonstrate antibodies on RBCs of baby Kleihauer test: add acid to maternal blood, fetal cells are resistant (do after a sensitisation event to see if further foses of anti-d are required)
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How will an affected fetus present - rhesus sensitisation
oedematous (hydrops fetalis, as liver devoted to RBC production albumin falls) jaundice, anaemia, hepatosplenomegaly heart failure kernicterus treatment: transfusions, UV phototherapy
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Mittelschmerz?
Ovulation pain
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Missed miscarriage
the fetus is no longer alive, but no symptoms have occurred
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Threatened miscarriage
vaginal bleeding with a closed cervix and a fetus that is alive
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Inevitable miscarriage
vaginal bleeding with an open cervix
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Incomplete miscarriage
retained products of conception remain in the uterus after the miscarriage
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Complete miscarriage
a full miscarriage has occurred, and there are no products of conception left in the uterus
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Anembryonic pregnancy
a gestational sac is present but contains no embryo
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Diagnosing miscarriage
transvaginal ultrasound
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Gravida (G)
is the total number of pregnancies a woman has had
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Primigravida
refers to a patient that is pregnant for the first time
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Multigravida
refers to a patient that is pregnant for at least the second time
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Para (P)
refers to the number of times the woman has given birth after 24 weeks
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Nulliparous (“nullip”)
refers to a patient that has never given birth after 24 weeks gestation
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Primiparous
technically refers to a patient that has given birth after 24 weeks gestation once before (see below) The term primiparous, or “primip” is a bit confusing. Technically, it refers to a woman that has given birth once before. However, it is often used on the labour ward to refer to a woman that is due to give birth for the first time (and has never given birth before). You may hear patients referred to on the labour ward as a “primip” when they have never given birth before.
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when do fetal movements start?
20 weeks If fetal movements have not yet been felt by 24 weeks, referral should be made to a maternal fetal medicine unit
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vaccines in pregnancy?
Whooping cough (pertussis) from 16 weeks gestation Influenza (flu) when available in autumn or winter Live vaccines, such as the MMR vaccine, are avoided in pregnancy.
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what is part of 'booking bloods' antenatal?
A set of booking bloods are taken for: Blood group, antibodies and rhesus D status Full blood count for anaemia Screening for thalassaemia (all women) and sickle cell disease (women at higher risk) Patients are also offered screening for infectious diseases, by testing antibodies for: HIV Hepatitis B Syphilis Screening for Down’s syndrome may be initiated depending on the gestational age. Bloods required for the combined test are taken from 11 weeks onwards.
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What congenital abnormality is lithium associated with, especially in first trimester?
ebsteins anomaly
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features of congenital rubella
Congenital deafness Congenital cataracts Congenital heart disease (PDA and pulmonary stenosis) Learning disability
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chickenpox in pregnancy complications
More severe cases in the mother, such as varicella pneumonitis, hepatitis or encephalitis Fetal varicella syndrome Severe neonatal varicella infection (if infected around delivery)
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exposure to chicken pox during pregnancy? Investigation and management
When they are not sure about their immunity, test the VZV IgG levels. If positive, they are safe. When they are not immune, they can be treated with IV varicella immunoglobulins as prophylaxis against developing chickenpox. This should be given within ten days of exposure.
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chickenpox rash in pregnancy and > 20 weeks gestastion
oral aciclovir
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congenital varicella syndrome
Fetal growth restriction Microcephaly, hydrocephalus and learning disability Scars and significant skin changes located in specific dermatomes Limb hypoplasia (underdeveloped limbs) Cataracts and inflammation in the eye (chorioretinitis)
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why should pregnanct women avoid foods such as blue cheese, unpasteurised foods, processed meats
Listeriosis in pregnant women has a high rate of miscarriage or fetal death. It can also cause severe neonatal infection.
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parovirus b19 in pregnancy?
Miscarriage or fetal death Severe fetal anaemia Hydrops fetalis (fetal heart failure) Maternal pre-eclampsia-like syndrome
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Category 1 caesarean sections should occur within how long of decision?
30 minutes
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pathophysiology parovirus b19 and fetal anaemia
Fetal anaemia is caused by parvovirus infection of the erythroid progenitor cells in the fetal bone marrow and liver. These cells produce red blood cells, and the infection causes them to produce faulty red blood cells that have a shorter life span. Less red blood cells results in anaemia. This anaemia leads to heart failure, referred to as hydrops feta
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what babies are at risk of respiratory distress syndrome
below 32 weeks gestation Other risk factors for SDLD include male sex diabetic mothers Caesarean section second born of premature twins
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cxr respiratory distress syndrome
ground glass appearance
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prevention/management respiratory distress syndrome
dexamethasone to mum before delivery endotracheal surfactant CPAP O2 to maintain sats between 91-95
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defintion bronchopulmonary dysplasia/CLDP
Infants who still have an oxygen requirement at a post-menstrual age of 36 weeks are described as having bronchopulmonary dysplasia (BPD) or chronic lung disease.
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investigation bronchopulmonary dysplasia
cxr widespread opacification, hyperinflation and atelectasis, may have cystic changes A formal sleep study to assess their oxygen saturations during sleep supports the diagnosis and guides management. Babies may be discharged from the neonatal unit on a low dose of oxygen to continue at home, for example 0.01 litres per minute via nasal cannula. They are followed up to wean the oxygen level over the first year of life.
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Pneumatosis intestinalis
gas in bowel wall - sign of NEC
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investigation for NEC
abdo xray dilated loops of bowel
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diagnostic test g6pd deficiency
G6PD enzyme assay around 3 months after an acute episode of hemolysis RBCs with the most severely reduced G6PD activity will have hemolysed → reduced G6PD activity → not be measured in the assay → false negative results
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things that can ppt a crisis in g6pd
anti-malarials: primaquine ciprofloxacin sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas infections broad (fava) beans
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diagnosis of spherocytosis
family history + blood results :MCHC high, high reticulocytes, spherocytes if ambiguous: EMA binding test and the cryohaemolysis test for atypical presentations : electrophoresis analysis of erythrocyte membranes is the method of choice
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congenital defect in the anterior abdominal wall just lateral to the umbilical cord
Gastroschisis vaginal delivery may be attempted newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours
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the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum.
Exomphalos (omphalocoele) 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 Associations Beckwith-Wiedemann syndrome Down's syndrome cardiac and kidney malformations
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triad of features toxoplasmosis
Intracranial calcification Hydrocephalus Chorioretinitis
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defintion neonatal hypoglycaemia management
glucose < 2.6 mmol/L 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
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causes cleft lip/palate
polygenic inheritance maternal antiepileptic use increases risk
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definiton recurrent miscarriage
three or more consecutive miscarriages.
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main causes of recurrent miscarriage
Idiopathic (particularly in older women) Antiphospholipid syndrome Hereditary thrombophilias eg factor V leidin Uterine abnormalities
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Chronic Histiocytic Intervillositis
Chronic histiocytic intervillositis is a rare cause of recurrent miscarriage, particularly in the second trimester. It can also lead to intrauterine growth restriction (IUGR) and intrauterine death. The condition is poorly understood. Histiocytes and macrophages build up in the placenta, causing inflammation and adverse outcomes. It is diagnosed by placental histology showing infiltrates of mononuclear cells in the intervillous spaces.
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Small for gestational age vs intrauterine growth restriction
Small for gestational age is defined as a fetus that measures below the 10th centile for their gestational age (doesn't state if pathoplogical or not) intrauterine growth restriction (IUGR), is when there is a small fetus (or a fetus that is not growing as expected) due to a pathology
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causes of placenta mediated growth restriction
Idiopathic Pre-eclampsia Maternal smoking Maternal alcohol Anaemia Malnutrition Infection Maternal health conditions
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causes of non-placenta mediated growth restriction
Genetic abnormalities Structural abnormalities Fetal infection Errors of metabolism
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complications of fetal growth restriction
Short term complications of fetal growth restriction include: Fetal death or stillbirth Birth asphyxia Neonatal hypothermia Neonatal hypoglycaemia Growth restricted babies have a long term increased risk of: Cardiovascular disease, particularly hypertension Type 2 diabetes Obesity Mood and behavioural problems
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How is growth of fetus measured
symphysis fundal height (SFH) from 24 weeks serial growth scans with umbilical artery doppler if need closer invetsigation due to: - SFH being < 10th centile at 24 weeks - Three or more minor risk factors - One or more major risk factors - Issues with measuring the symphysis fundal height (e.g. large fibroids or BMI > 35)
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when is early delivery considered for small for gestational age?
when growth is static
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defintion of low birth weight
less than 2500g
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main risk for large for gestational age
shoulder dystocia
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Investigations for a large for gestational age baby ?
Ultrasound to exclude polyhydramnios and estimate the fetal weight Oral glucose tolerance test for gestational diabetes
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causes macrosmia
Constitutional Maternal diabetes Previous macrosomia Maternal obesity or rapid weight gain Overdue Male baby
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defintion large for gestational age
large for gestational age (also known as macrosomia) when the weight of the newborn is more than 4.5kg at birth. An estimated fetal weight above the 90th centile is considered large for gestational age.
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what type of twin pregnancy has best outcomes?
diamniotic, dichorionic twin pregnancies
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lambda sign or twin peak sign pregnancy
diamniotic, dichorionic
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T sign pregnancy
Monochorionic diamniotic
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no membrane separating twins pregnancy
monochorionic, monoamniotic
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when are monoamniotic twins delivered, how?
elective caesarean section at between 32 and 33 + 6 weeks.
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when are diamniotic twins delivered?
36 and 36 + 6 weeks for uncomplicated monochorionic diamniotic twins 37 and 37 + 6 weeks for uncomplicated dichorionic diamniotic twins Vaginal delivery is possible when the first baby has a cephalic presentation (head first) Caesarean section may be required for the second baby after successful birth of the first baby Elective caesarean is advised when the presenting twin is not cephalic presentation
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what do UTIs in pregnancy increase the risk of?
pre-term birth
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testing for UTIs in pregancy
MSU for sensitivities and cultures routinely (at booking and at appointments) - treat asymptomatic bacteraemia during pregnancy MSU and dip when symptomatic
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folic acid dosage pregnancy
400mcg per day from prior to getting pregnant Women with folate deficiency/epileptic drugs/pre-existing diabetes/BMI>30 are started on folic acid 5mg daily.
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when are pregnant women screened for anaemia
Booking clinic 28 weeks gestation
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cut offs for treating anaemia in women? in pregnancy and post partum
Hb <115 non-pregnant <110 first trimester (booking appt) <105 2nd/3rd trimester <100 post partum
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anaemia treatment pregnancy
ferrous sulphate 200mg three times daily
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what should people with B12 deficiency be tested for?
pernicious anaemia (checking for intrinsic factor antibodies).
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investigation of choice DVT?
Doppler ultrasound The Wells score is not validated for use in pregnant women. D-dimers are not helpful in pregnant patients, as pregnancy is a cause of a raised D-dimer.
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investigations for pulmonary embolism : initial and definitive
Chest xray ECG There are two main options for establishing a definitive diagnosis: CT pulmonary angiogram (CTPA) or ventilation-perfusion (VQ) scan. CTPA is the test for patients with an abnormal chest xray CTPA carries a higher risk of breast cancer for the mother (minimal absolute risk) VQ scan carriers a higher risk of childhood cancer for the fetus (minimal absolute risk) Patients with a suspected deep vein thrombosis and pulmonary embolism should have a Doppler ultrasound initially, and if a DVT is present, they do not require a VQ scan or CTPA to confirm a PE. The treatment for DVT and PE are the same. The Wells score is not validated for use in pregnant women. D-dimers are not helpful in pregnant patients, as pregnancy is a cause of a raised D-dimer.
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Management of venous thromboembolism in pregnancy
low molecular weight heparin (LMWH). Examples of LMWH are enoxaparin, dalteparin and tinzaparin. The dose is based on the woman’s weight at the booking clinic, or from early pregnancy. LMWH should be started immediately, before confirming the diagnosis in patients where DVT or PE is suspected and there is a delay in getting the scan. Treatment can be stopped when the investigations exclude the diagnosis. When the diagnosis is confirmed, LMWH is continued for the remained of pregnancy, plus six weeks postnatally, or three months in total (whichever is longer). There is an option to switch to oral anticoagulation (e.g. warfarin or a DOAC) after delivery. An individual risk assessment is performed before stopping anticoagulation, with advice from a haematologist if necessary.
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Management pregnant women with PE and haemodynamic compromise
Unfractionated heparin Thrombolysis Surgical embolectomy
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pathophysiology pre-eclampsia
Pre-eclampsia is caused by high vascular resistance in the spiral arteries and poor perfusion of the placenta. This causes oxidative stress in the placenta, and the release of inflammatory chemicals into the systemic circulation, leading to systemic inflammation and impaired endothelial function in the blood vessels.
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pre-eclampsia definition
NICE guidelines for diagnosis: Systolic blood pressure above 140 mmHg Diastolic blood pressure above 90 mmHg PLUS any of: Proteinuria (1+ or more on urine dipstick) Organ dysfunction (e.g. raised creatinine, elevated liver enzymes, seizures, thrombocytopenia or haemolytic anaemia) Placental dysfunction (e.g. fetal growth restriction or abnormal Doppler studies Triad : hypertension after 20 weeks, proteinuria, oedema
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what is eclampsia
seizures due to pre-eclampsia
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which factors mean women will be offered aspirin for pre-eclampsia prophylaxis? how long given for?
From 12 weeks until birth One high-risk factors: Pre-existing hypertension Previous hypertension in pregnancy Existing autoimmune conditions (e.g. systemic lupus erythematosus) Diabetes Chronic kidney disease 2 or more moderate risk factors: Older than 40 BMI > 35 More than 10 years since previous pregnancy Multiple pregnancy First pregnancy Family history of pre-eclampsia
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proteinuria in pregnancy values
Urine protein:creatinine ratio (above 30mg/mmol is significant) Urine albumin:creatinine ratio (above 8mg/mmol is significant)
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test to rule out pre-eclampsia
The NICE guidelines (2019) recommend the use of placental growth factor (PlGF) testing on one occasion during pregnancy in women suspected of having pre-eclampsia. Placental growth factor is a protein released by the placenta that functions to stimulate the development of new blood vessels. In pre-eclampsia, the levels of PlGF are low. NICE recommends using PlGF between 20 and 35 weeks gestation to rule-out pre-eclampsia.
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management of pre-existing diabetes in pregnancy
folic acid 5mg stick to metformin and insulin aim for same levels as in gestational diabetes retinopathy screening after booking and at 28 weeks planned delivery between 37 and 38 + 6 weeks
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complications of gestational diabetes
hypoglycaemia of newborn macrosmia
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gram positive colour
purple stays purple, stay positive
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what does blood spot heel prick test for?
9 things CF congenital hypothyroidism sickle cell metabolic diseases: maple syrup, PKU etc
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posterior triangle of neck swelling anterior triangle of neck swelling
cystic hydroma branchial cyst
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test for thrush
Often treatment for candidiasis is started empirically, based on the presentation. Testing the vaginal pH using a swab and pH paper can be helpful in differentiating between bacterial vaginosis and trichomonas (pH > 4.5) and candidiasis (pH < 4.5). A high vaginal charcoal swab with microscopy can confirm the diagnosis.
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gold standard investigation osteomyelitis
MRI
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management thrush
1. oral fluconazole 150 mg as a single dose first-line clotrimazole 500 mg intravaginal pessary as a single dose if oral therapy is contraindicated If there are vulval symptoms, consider adding a topical imidazole in addition to an oral or intravaginal antifungal 1. if pregnant then only local treatments (e.g. cream or pessaries) may be used - oral treatments are contraindicated
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diagnosis gonnorrhoea
NAAT A standard charcoal endocervical swab should be taken for microscopy, culture and antibiotic sensitivities before initiating antibiotics. This is particularly important given the high rates of antibiotic resistance.
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Management gonorrhoea
A single dose of intramuscular ceftriaxone 1g if the sensitivities are NOT known A single dose of oral ciprofloxacin 500mg if the sensitivities ARE known
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test of cure gonorrhoea
This is with NAAT testing if they are asymptomatic, or cultures where they are symptomatic. BASHH recommend a test of cure at least: 72 hours after treatment for culture 7 days after treatment for RNA NATT 14 days after treatment for DNA NATT
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Disseminated Gonococcal Infection
Various non-specific skin lesions Polyarthralgia (joint aches and pains) Migratory polyarthritis (arthritis that moves between joints) Tenosynovitis Systemic symptoms such as fever and fatigue
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test for chlamydia
NAAT
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management of chlamydia
First-line for uncomplicated chlamydia infection is doxycycline 100mg twice a day for 7 days. The guidelines previously recommended a single dose of azithromycin 1g orally as an alternative.
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management of chlamydia in pregnancy and breast feeding
Azithromycin 1g stat then 500mg once a day for 2 days
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Lymphogranuloma Venereum
Lymphogranuloma venereum (LGV) is a condition affecting the lymphoid tissue around the site of infection with chlamydia. It most commonly occurs in men who have sex with men (MSM). LGV occurs in three stages: The primary stage involves a painless ulcer (primary lesion). This typically occurs on the penis in men, vaginal wall in women or rectum after anal sex. The secondary stage involves lymphadenitis. This is swelling, inflammation and pain in the lymph nodes infected with the bacteria. The inguinal or femoral lymph nodes may be affected. The tertiary stage involves inflammation of the rectum (proctitis) and anus. Proctocolitis leads to anal pain, change in bowel habit, tenesmus and discharge. Tenesmus is a feeling of needing to empty the bowels, even after completing a bowel motion. Doxycycline 100mg twice daily for 21 days is the first-line treatment for LGV recommended by BASHH
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unilateral conjunctivitis
Chlamydial conjunctivitis
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what is trichomonas
Trichomonas vaginalis is a type of parasite spread through sexual intercourse. Trichomonas is classed as a protozoan, and is a single-celled organism with flagella.
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complications of chlamydia?
Pelvic inflammatory disease Chronic pelvic pain Infertility Ectopic pregnancy Epididymo-orchitis Conjunctivitis Lymphogranuloma venereum Reactive arthritis
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trichomonas complications
Contracting HIV by damaging the vaginal mucosa Bacterial vaginosis Cervical cancer Pelvic inflammatory disease Pregnancy-related complications such as preterm delivery.
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pregnancy complications chlamydia
Preterm delivery Premature rupture of membranes Low birth weight Postpartum endometritis Neonatal infection (conjunctivitis and pneumonia)
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investigation trichomonas
high vaginal charcoal swab with microscopy
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management trichomonas
metronidazole
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raised vaginal pH - value? indicate?
> 4.5 - BV - trichomonas
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investigation genital herpes
clinical but can do: Viral PCR swab from a lesion can confirm the diagnosis and causative organism.
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management genital herpes
Aciclovir
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genital herpes and pregnancy
Primary HSV-2 <28 weeks gestation - aciclovir during the initial infection - regular prophylactic aciclovir starting from 36 weeks gestation - if asymptomatic at delivery can have a vaginal delivery (provided it is more than six weeks after the initial infection) Primary HSV-2 >28 weeks gestation - aciclovir during the initial infection followed immediately by regular prophylactic aciclovir. - Caesarean section Recurrent HSV-2 carries a low risk of neonatal infection (0-3%), even if the lesions are present during delivery. Regular prophylactic aciclovir is considered from 36 weeks gestation to reduce the risk of symptoms at the time of delivery.
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tests for syphillis
Antibody testing for antibodies to the T. pallidum bacteria can be used as a screening test for syphilis. Patients with suspected syphilis or positive antibodies should be referred to a specialist GUM centre for further testing. Samples from sites of infection can be tested to confirm the presence of T. pallidum with: Dark field microscopy Polymerase chain reaction (PCR) The rapid plasma reagin (RPR) and venereal disease research laboratory (VDRL) tests (assessing for active infection) 2481632 thing
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treatment syphillis
deep intramuscular dose of benzathine benzylpenicillin (penicillin)
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Mycoplasma genitalium (MG)
bacteria that causes non-gonococcal urethritis
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investigation mycoplasma genitalium
Nucleic acid amplification tests (NAAT)
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management mycoplasma genitalium
Course of doxycycline followed by azithromycin for uncomplicated genital infections: Doxycycline 100mg twice daily for 7 days then; Azithromycin 1g stat then 500mg once a day for 2 days (unless it is known to be resistant to macrolides) Moxifloxacin is used as an alternative or in complicated infections. Azithromycin alone is used in pregnancy and breastfeeding (remember doxycycline is contraindicated).
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testing for HIV
Antibody testing for screening (blood test) - needs 3 months to show up Testing for the p24 antigen. This can give a positive result earlier in the infection compared with the antibody test. PCR testing for the HIV RNA levels tests directly for the number of viral copies in the blood, giving a viral load.
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CD4 count
500-1200 cells/mm3 is the normal range Under 200 cells/mm3 is considered end-stage HIV (AIDS) and puts the patient at high risk of opportunistic infections
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Viral load HIV - undetectable level?
Viral load is the number of copies of HIV RNA per ml of blood. “Undetectable” refers to a viral load below the lab’s recordable range (usually 50 – 100 copies/ml). The viral load can be in the hundreds of thousands in untreated HIV.
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management of HIV
Two NRTIs (e.g. tenofovir and emtricitabine) plus a third agent.
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management if CD4 is less than 200
Prophylactic co-trimoxazole (Septrin) to protect against pneumocystis jirovecii pneumonia (PCP)
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cervical smears women with HIV
Yearly cervical smears
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how to prevent transmission of HIV during birth
Normal vaginal delivery is recommended for women with a viral load < 50 copies / ml Caesarean section is considered in patients with > 50 copies copies / ml and in all women with > 400 copies / ml IV zidovudine should be given during the caesarean if the viral load is unknown or there are > 10000 copies / ml
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can you breastfeed with HIV
not recommended
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what is PEP
PEP involves a combination of ART therapy. The current regime is Truvada (emtricitabine and tenofovir) and raltegravir for 28 days. PEP is not 100% effective and must be commenced within a short window of opportunity (less than 72 hours) HIV tests are done immediately and also a minimum of three months after exposure to confirm a negative status. Individuals should abstain from unprotected sexual activity for a minimum of three months until confirmed as negative.
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Pathophysiology BV
Lactobacilli are the main component of the healthy vaginal bacterial flora. These bacteria produce lactic acid that keeps the vaginal pH low (under 4.5). The acidic environment prevents other bacteria from overgrowing. When there are reduced numbers of lactobacilli in the vagina, the pH rises. This more alkaline environment enables anaerobic bacteria to multiply.
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Risk factors BV
Multiple sexual partners (although it is not sexually transmitted) Excessive vaginal cleaning (douching, use of cleaning products and vaginal washes) Recent antibiotics Smoking Copper coil Bacterial vaginosis occurs less frequently in women taking the combined pill or using condoms effectively.
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Investigations BV
Vaginal pH can be tested using a swab and pH paper. The normal vaginal pH is 3.5 – 4.5. BV occurs with a pH above 4.5.
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Management BV
Metronidazole is the antibiotic of choice for treating bacterial vaginosis This is given orally, or by vaginal gel. Clindamycin is an alternative but less optimal antibiotic choice.
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What do you need to remember to say when prescribing metronidazole
Whenever prescribing metronidazole advise patients to avoid alcohol for the duration of treatment. This is a crucial association you should remember, and something examiners will look out for when you are explaining the treatment to a patient. Alcohol and metronidazole can cause a “disulfiram-like reaction”, with nausea and vomiting, flushing and sometimes severe symptoms of shock and angioedema.
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What is pelvic inflammatory disease
inflammation and infection of the organs of the pelvis, caused by infection spreading up through the cervix Most common causes: Neisseria gonorrhoeae tends to produce more severe PID Chlamydia trachomatis Mycoplasma genitalium
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Invetsigation markers pelvic inflammatory disease
Pus cells on microscopy. The absence of pus cells is useful for excluding PID. Raised CRP/ESR
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Management PID
refer to GUM A single dose of intramuscular ceftriaxone 1g (to cover gonorrhoea) Doxycycline 100mg twice daily for 14 days (to cover chlamydia and Mycoplasma genitalium) Metronidazole 400mg twice daily for 14 days (to cover anaerobes such as Gardnerella vaginalis)
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management genital warts
topical podophyllum or cryotherapy are commonly used as first-line treatments depending on the location and type of lesion multiple, non-keratinised warts are generally best treated with topical agents solitary, keratinised warts respond better to cryotherapy
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pathogen genital warts
HPV 6 and 11
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whats a double/triple swab
Double swabs: a NAAT swab (endocervical or vulvovaginal) and a high vaginal charcoal media swab. Triple swabs: a NAAT swab (endocervical or vulvovaginal), a high-vaginal charcoal media swab and an endocervical charcoal media swab.
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What CF colonising bacteria is bad
Pseudomonas aerginosa
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Haemolysis Elevated Liver enzymes Low Platelets
HELLP SYNDROME - COMPLICATION OF PRE-ECLAMPSIA
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management of gestational diabestes
Four weekly ultrasound scans to monitor the fetal growth and amniotic fluid volume from 28 to 36 weeks gestation. The initial management: Fasting glucose less than 7 mmol/l: trial of diet and exercise for 1-2 weeks, followed by metformin, then insulin Fasting glucose above 7 mmol/l: start insulin ± metformin Fasting glucose above 6 mmol/l plus macrosomia (or other complications): start insulin ± metformin
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What can obstetric cholestasis cause?
still birth
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Shoulder dystocia management
Immediately after shoulder dystocia is recognised, additional help should be called. Fundal pressure should not be used. An episiotomy is not always necessary. Induction of labour at term can actually reduce the incidence of shoulder dystocia in women with gestational diabetes. McRoberts manoeuvre is the first line intervention as it is known to be simple, rapid and effective in most cases
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Category 2 caesarean section occur within?
75 minutes
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diagnosis gestational diabetes
Gestational diabetes can be diagnosed by either a: fasting glucose is >= 5.6 mmol/L, or 2-hour glucose level of >= 7.8 mmol/L '5678'
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cholestatic picture of liver tests
High ALP and GGT, with a lesser rise in ALT.
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what screening tool is used for postnatal depression
Edinburgh scale
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when would you test for gesttaional diabetes
OGTT 24-28 weeks
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Histology cervical cancer
squamous cell cancer (80%) adenocarcinoma (20%)
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Biggest risk factor in developing cervical cancer?
HPV 16,18 & 33
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What virsuses cause genital warts
HPV 6 & 11
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How does HPV cause cervical cancer?
HPV 16 & 18 produces the oncogenes E6 and E7 genes respectively E6 inhibits the p53 tumour suppressor gene E7 inhibits RB suppressor gene
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screening pathway for cervical cancer
1. Test for high-risk human papillomavirus strains (hrHPV) If negative return to normal recall 2. If positive → cytology If cytology negative, retest hrHPV in 12 months If hrHPV is then negative return to recall, if hrHPV positive repeat again in 12 months If hrHPV is positive at 24 months, cytology is normal refer to colposcopy anway 3. If cytology positive → colposcopy
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If sample is inadequate HPV cervical screening, what do you do?
Retest in 3 months If inadequate again --> colposcopy
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Normal recall for cervical screening
Age 25 years: first invitation. Age 25-49 years: screening every 3 years. Age 50-64 years: screening every 5 years. Women 65 years of age or older if they have not had a cervical screening test since 50 years of age or a recent cervical cytology sample is abnormal.
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cervical screening and pregnancy
cervical screening in pregnancy is usually delayed until 3 months postpartum unless missed screening or previous abnormal smears.
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women with HIV and cervical screening
Cervical cytology at diagnosis. Cervical cytology should then be offered annually for screening.
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What is the test of cure pathway for cerviclal cancer?
Individuals who have been treated for CIN1, CIN2, or CIN3 should be invited 6 months after treatment for a test of cure repeat cervical sample in the community
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Management of cervical intraepitlealial neoplasia
Large loop excision of the transformation zone (LLETZ)
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Cervical cancer stage 1A
Confined to cervix, only visible by microscopy and less than 7 mm wide: A1 = < 3 mm deep A2 = 3-5 mm deep Gold standard of treatment is hysterectomy +/- lymph node clearance Nodal clearance for A2 tumours For patients wanting to maintain fertility, a cone biopsy with negative margins can be performed Radical trachelectomy is also an option for A2
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Cervical cancer stage 1B
Confined to cervix, clinically visible or larger than 7 mm wide: B1 = < 4 cm diameter B2 = > 4 cm diameter Radiotherapy with concurrent chemotherapy is advised Radiotherapy may either be bachytherapy or external beam radiotherapy Cisplatin is the commonly used chemotherapeutic agent For B2 tumours: radical hysterectomy with pelvic lymph node dissection
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Stage II and III cervical cancer
Stage 2: Extension of tumour beyond cervix but not to the pelvic wall A = upper two thirds of vagina B = parametrial involvement Stage 3: Extension of tumour beyond the cervix and to the pelvic wall A = lower third of vagina B = pelvic side wall NB: Any tumour causing hydronephrosis or a non-functioning kidney is considered stage III Radiation with concurrent chemotherapy Radiotherapy may either be bachytherapy or external beam radiotherapy Cisplatin is the commonly used chemotherapeutic agent If hydronephrosis, nephrostomy should be considered
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Stage IV cervical cancer
Extension of tumour beyond the pelvis or involvement of bladder or rectum A = involvement of bladder or rectum B = involvement of distant sites outside the pelvis Radiation and/or chemotherapy is the treatment of choice Palliative chemotherapy may be best option for stage IVB
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What complications is there with LLETZ and cone biopsy
pre term labour in future pregnancies
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What does FSH do?
development of follicle beyond secondary stimulates granulosa cells to multiply and produce oestrogen Induces LH receptors on granulosa cells of the dominant follicle
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What does oestrogen do?
stimulates proliferation of granulosa cells exerts negative feedback on the secretion of gonadotrophins works with progesterone to maintain lining in luteal phase
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What does LH do?
stimulates theca cells to synthesise androgens the mid-cycle surge in LH causes ovulation
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What does progesterone do?
Helps to build and maintain endometrial lining progesterone is produced in large amounts by the corpus luteum to maintain the lining the drop in progesterone due to degeneration of corpus luteum (due to no hCG) causes endmetrial shedding
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what are the 4 key follicular stages
Primordial follicles Primary follicles Secondary follicles Antral follicles (also known as Graafian follicles)
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Histology of most endometrail cancers
adenocarcinoma
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risk factors for endometrial cancer
obesity Nulliparity (Nulliparity is a risk factor for endometrial cancer. This is because during pregnancy, the balance of hormones shifts towards progesterone, which is a protective factor.) early menarche late menopause unopposed oestrogen. The addition of a progestogen to oestrogen reduces this risk (e.g. In HRT). The BNF states that the additional risk is eliminated if a progestogen is given continuously diabetes mellitus tamoxifen polycystic ovarian syndrome hereditary non-polyposis colorectal carcinoma
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2 week wait criteria for ?endometrial cancer
Age over 55 with post menopausal bleeding (must be >12 months since last period) Consider if over 55 and: Unexplained vaginal discharge Visible haematuria plus raised platelets, anaemia or elevated glucose levels
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Investigations for endometrial cancer?
Transvaginal ultrasound for endometrial thickness (normal is less than 4mm post-menopause) Hysteroscopy with endometrial biopsy Pipelle biopsy, which is highly sensitive for endometrial cancer making it useful for excluding cancer
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Stages of endometrial cancer?
Stage 1: Confined to the uterus Stage 2: Invades the cervix Stage 3: Invades the ovaries, fallopian tubes, vagina or lymph nodes Stage 4: Invades bladder, rectum or beyond the pelvis
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Managemnet of endometrial cancer
total abdominal hysterectomy with bilateral salpingo-oophorectomy, also known as a TAH and BSO (removal of uterus, cervix and adnexa). progestogen therapy is sometimes used in frail elderly women not consider suitable for surgery
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how may endometrial hyperplasia present?
intermenstrual bleeding
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What is endometrial hyperplasia ? types?
abnormal proliferation of the endometrium in excess of the normal proliferation that occurs during the menstrual cycle. A minority of patients with endometrial hyperplasia may develop endometrial cancer types: hyperprolifertaion without atypia atypical hyperplasia
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Management of endometrial hyperplasia?
Intrauterine system (e.g. Mirena coil) Continuous oral progestogens (e.g. medroxyprogesterone or levonorgestrel) and retest in 3 months If atypia : hysterectomy advised
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Invetsigations for ovarian cancer?
CA-125 If CA-125 is over 35 the do abdo USS Diagnosis is difficult and usually involves CT for staginh and diagnostic laparotomy
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risk factors for ovarian cancer
Family history: mutations of the BRCA1 or the BRCA2 gene many ovulations*: early menarche, late menopause, nulliparity
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Most common ovarian cancer histlogy
epithelial cell tumour - serous tumour
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What are teratomas?
germ cell tumours
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Particular complication with teratomas?
ovarian torison
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Blood tests in teratomas
raised alpha-fetoprotein (α-FP) raised human chorionic gonadotrophin (hCG)
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Risk factors for ovarian cancer
Age (peaks age 60) BRCA1 and BRCA2 genes (consider the family history) Increased number of ovulations Obesity Smoking Recurrent use of clomifene Factors that increase the number of ovulations, increase the risk of ovarian cancer. These include: Early-onset of periods Late menopause No pregnancies
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2 week wait criteria for ovarian cancer
Ascites Pelvic mass (unless clearly due to fibroids) Abdominal mass
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What investigation should women under 40 years with a complex ovarian mass have
?teratoma Alpha-fetoprotein (α-FP) Human chorionic gonadotropin (HCG)
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What can raise CA-125?
Endometriosis Fibroids Adenomyosis Pelvic infection Liver disease Pregnancy
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Management ovarian cancer
Ovarian cancer will be managed by a specialist gynaecology oncology MDT. It usually involves a combination of surgery and chemotherapy.
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Management ovarian cancer
Ovarian cancer will be managed by a specialist gynaecology oncology MDT. It usually involves a combination of surgery and chemotherapy.
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Stages of ovarian cancer
Stage 1: Confined to the ovary Stage 2: Spread past the ovary but inside the pelvis Stage 3: Spread past the pelvis but inside the abdomen Stage 4: Spread outside the abdomen (distant metastasis)
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Most common histology vulval cancer
squamous cell carcinomas
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Invetsigations for vulval cancer
Biopsy of the lesion Sentinel node biopsy to demonstrate lymph node spread Further imaging for staging (e.g. CT abdomen and pelvis)
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management of lichen sclerosus
topical steroids and emollients
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Presentation of vaginal cancer?
abnormal discharge
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management vulval cancer?
Wide local excision to remove the cancer Groin lymph node dissection Chemotherapy Radiotherapy
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IUD vs IUS?
IUD - copper coil IUS - things like mirena coil
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Risk factors for placental abruption?
A for Abruption previously; B for Blood pressure (i.e. hypertension or pre-eclampsia); R for Ruptured membranes, either premature or prolonged; U for Uterine injury (i.e. trauma to the abdomen); P for Polyhydramnios; T for Twins or multiple gestation; I for Infection in the uterus, especially chorioamnionitis; O for Older age (i.e. aged over 35 years old); N for Narcotic use (i.e. cocaine and amphetamines, as well as smoking)
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“chocolate cysts”
A lump of endometrial tissue outside the uterus is described as an endometrioma. Endometriomas in the ovaries are often called “chocolate cysts”.
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Blood reuslts rickets
Low calcium, low phosphate, high ALP and high PTH
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Inheritance of thalassemia?
autosomal recessive
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What does FBC show thalassemia?
microcytic anaemia
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Investigations thalassmeia
Full blood count shows a microcytic anaemia. Haemoglobin electrophoresis is used to diagnose globin abnormalities. DNA testing can be used to look for the genetic abnormality Pregnant women in the UK are offered a screening test for thalassemia at booking.
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On what chromosome is defect that causes alpha thalassemia?
chromosome 16
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On what chromosome is defect that causes beta thalassemia?
chromosome 11
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Thalassemia minor pathophysiology, presentaiton and management
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.
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Thalasssemia intermedia - pathophysiology, presentation, management
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 and patients require monitoring and occasional blood transfusions. If they need more transfusions they may require iron chelation to prevent iron overload.
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Thalassemia major - pathophysiology, presentation, manageement
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 Management involves regular transfusions, iron chelation and splenectomy. Bone marrow transplant can potentially be curative.
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What is haemophilia A caused by
deficiency in factor VIII
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What is haemophilia B caused by
Deficiency in factor IX
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Diagnosis of haemophilia
bleeding scores coagulation factor assays genetic testing.
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Management of haemophilia
Infusions of the affected factor (VIII or IX) - either prophylacticly or in response to bleeding Desmopressin to stimulate the release of von Willebrand Factor Antifibrinolytics such as tranexamic acid
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Requirements for instrumental delivery
FORCEPS acronym Fully dilated cervix generally the second stage of labour must have been reached OA position preferably OP delivery is possible with Keillands forceps and ventouse. The position of the head must be known as incorrect placement of forceps or ventouse could lead to maternal or fetal trauma and failure Ruptured Membranes Cephalic presentation Engaged presenting part i.e. head at or below ischial spines the head must not be palpable abdominally Pain relief Sphincter (bladder) empty this will usually require catheterization
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contributing factors anaemia of prematurity
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
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Most common causes of anaemia in older children?
Iron deficiency anaemia secondary to dietary insufficiency. This is the most common cause overall. Blood loss, most frequently from menstruation in older girls
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Worldwide, a common cause of blood loss causing chronic anaemia and iron deficiency is? management?
helminth infection, with roundworms, hookworms or whipworms. This can be very common in developing countries and those living in poverty. It is more unusual in the UK. Treatment is with a single dose of albendazole or mebendazole.
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what is fanconi anaemia?
autosomal recessive aplastic anaemia (pancytopaenia)
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what does high total iron binding capacity indicate?
iron deficicency A total iron-binding capacity (TIBC) test measures the blood's ability to attach itself to iron and transport it around the body. A transferrin test is similar. If you have iron deficiency anaemia (a lack of iron in your blood), your iron level will be low but your TIBC will be high.
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relationship between iron and stomach acid
Iron is mainly absorbed in the duodenum and jejunum. It requires the acid from the stomach to keep the iron in the soluble ferrous (Fe2+) form. When there is less acid in the stomach, it changes to the insoluble ferric (Fe3+) form. Therefore, medications that reduce the stomach acid, such as proton pump inhibitors (lansoprazole and omeprazole) can interfere with iron absorption.
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Myasthenia gravis associations
thymomas 15% autoimmune conditions
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Diagnostic investigation myasthenia gravis
Specific antibodies against the acetylcholine receptors AChR antibodies If negative test anti-muscle-specific tyrosine kinase antibodies single fibre electromyography: high sensitivity (92-100%) CT thorax to exclude thymoma CK normal
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Mnagement myasthenia gravis
long-acting acetylcholinesterase inhibitors: pyridostigmine is first-line immunosuppression is usually not started at diagnosis, but the majority of patients eventually require it: prednisolone initially azathioprine, cyclosporine, mycophenolate mofetil may also be used thymectomy
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Management of a myasthenic crisis
plasmapheresis intravenous immunoglobulins ​​Plasmapheresis removes circulating antibodies, including the autoimmune antibodies responsible for the disease. Immunotherapy with intravenous gammaglobulin appears to diminish the activity of the disease.
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MG implications for anaesthesia?
Suxamethonium is a depolarising NMBD - it acts by binding to and activating the receptor, at first causing muscle contraction, then paralysis. Due to a decreased number of available receptors, MG patients are typically resistant to depolarising NMBDs and may require significantly higher doses.
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What drugs should be avoided in MG?
beta blockers lithium phenytoin antibiotics: gentamicin, macrolides, quinolones, tetracyclines
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most common fractures associated with NAI
- Radial - Humeral - Femoral