2014 remembered Flashcards

Question

Evidence for use of magnesium sulphate in preterm labour shows decrease in a. Cerebral palsy b. Mortality c. Seizure d. IVH e. BPD

Answer 1

Answer A: CP Numerous large clinical studies have evaluated the evidence regarding magnesium sulfate, neuroprotection, and preterm births. The Committee on Obstetric Practice and the Society for Maternal-Fetal Medicine recognize that none of the individual studies found a benefit with regard to their primary outcome. However, the available evidence suggests that magnesium sulfate given before anticipated early preterm birth reduces the risk of cerebral palsy in surviving infants.

Answer 2

Answer E Craniopharyngioma is a rare, usually suprasellar[4] neoplasm, which may be cystic, that develops from nests of epithelium derived from Rathke's pouch.[5][6] Rathke's pouch is an embryonic precursor of the anterior pituitary

Answer 3

Answer A, B thal trait Microcytic anaemia with very low MCV (out of proportion with degree of anaemia, normal RDW <12%- if this was high would suggest iron deficiency) C and D are unlikely

Answer 4

C) factor 8 II, VII, IX, X synthesized by liver. Uptodate: Severe liver disease – Liver disease severe enough to impair the hepatic synthesis of coagulation factors can cause a severe coagulopathy. Like DIC, severe liver disease is associated with reductions in both procoagulant and anticoagulant factors as well as thrombocytopenia; patients can have bleeding or thrombosis. The coagulation factor reductions and thrombocytopenia in severe liver disease are often caused by a combination of hypersplenism and thrombopoietin (TPO) deficiency, since the liver is the primary site of TPO synthesis. Unlike DIC, patients with severe liver disease typically present with a known source of liver injury (eg, acute hepatitis, alcoholic cirrhosis) and abnormal liver function tests, although transaminases may appear to normalize if liver synthetic function is severely impaired. Some clinicians consider factor VIII levels to be helpful because factor VIII is not produced by hepatocytes and thus is often low in DIC and high in severe liver disease. (See "Coagulation abnormalities in patients with liver disease".)

Answer 5

Answer C, Normal APTT, High PT, normal TT Haemorrhagic disease newborn due to Vit K deficiency On some assays APTT can be high also, but TT should not be affected as neonates have normal fibrinogen (as per pastest)

Answer 6

C, Anti TNF-alpha

Answer 7

C)Nebulised salbutamol He technically does not have anaphylaxis. Therefore IM adrenaline not indicated. Would need observation. He does have features of bronchoconstriction though. As per RCH Melbourne • Other therapies to consider • Nebulised salbutamol is recommended if the patient has respiratory distress with wheezing or consider other antiasthma medications • Anti-histamines may be given for symptomatic relief of pruritus. Second generation anti-histamines are preferred (promethazine can cause hypotension). • Corticosteroids may be considered at the discretion of the treating physician, especially for bronchospasm, although the limited evidence available does not support their use.

Answer 8

Answer E: proteinase • The most commonly identified and evaluated antigens in GPA are the following two proteins: o Proteinase 3 (PR3), which is observed in 70 to 80 percent of patients o Myeloperoxidase (MPO), which is the target in approximately 10 percent of patients

Answer 9

Answer B: carbs The exocrine pancreas produces 3 main types of enzymes: amylase, protease, and lipase.[1] Under normal physiologic conditions, the enzymes (specifically, lipase) break undigested triglycerides into fatty acids and monoglycerides, which are then solubilized by bile salts (see Pathophysiology). Because the exocrine pancreas retains a large reserve capacity for enzyme secretion, fat digestion is not clearly impaired until lipase output decreases to below 10% of the normal level. CHO metabolism- starch is broken down by amylase (produced by pancreas) but also mono and disscharides broken down at gut wall… therefore CHO least affected.

Answer 10

B) US initially US, more definitive nuclear scintigraphy and biopsy

Answer 11

Answer B Oral zinc interferes with the absorption of copper, providing a rationale for its use in Wilson disease. Zinc induces metallothionein (an endogenous chelator of metals) in enterocytes, which has a greater affinity for copper than for zinc, causing it to bind luminal copper and thereby preventing its entry into the circulation [49,50]. The bound copper is excreted fecally during normal turnover of enterocytes. Copper secreted from saliva and gastric and intestinal secretions is also bound, thereby further enhancing a negative copper balance

Answer 12

D) Photo-isomerization: converting the toxic native unconjugated bilirubin to unconjugated configurational isomer which can than be excreted by the kidneys in the unconjugated state.

Answer 13

Answer A Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. The original description of NPD referred to what is currently termed NPD type A, which is a fatal disorder of early childhood characterized by failure to thrive, hepatosplenomegaly, and a rapidly progressive neurodegenerative course that leads to death by age 2-3 years. Since this original description, other forms of NPD have been described. NPD type B is a milder, nonneuronopathic form with later onset and longer survival, sometimes into adulthood. NPD type C, a rarer form, results from defects in cholesterol metabolism. Both NPD types A and B are inherited as autosomal recessive traits.

Answer 14

A) A less common cause of secondary polycythemia is the presence of a high-oxygen-affinity hemoglobin. Hemoglobins with increased oxygen (O2) affinity commonly result in erythrocytosis caused by an O2 unloading problem at the tissue level. The most common symptoms are headache, dizziness, tinnitus, and memory loss. The affected individuals are plethoric, but not cyanotic. Patients with a high-oxygen-affinity hemoglobin may present with an increased erythrocyte count, hemoglobin concentration, and hematocrit, but normal leukocyte and platelet counts. The p50 and 2,3-bisphosphoglycerate (2,3-BPG, also known as 2,3-DPG) values are low. Changes to the amino acid sequence of the hemoglobin molecule may distort the molecular structure, affecting O2 transport and the binding of 2,3-BPG. 2,3-BPG is critical to O2 transport of erythrocytes because it regulates the O2 affinity of hemoglobin. A decrease in the 2,3-BPG concentration within erythrocytes results in greater O2 affinity of hemoglobin and reduction in O2 delivery to tissues. A few cases of erythrocytosis have been described as being due to a reduction in 2,3-BPG formation. Tissue hypoxia (due to decreased release of O2- because of higher O2/Hb binding affinity) causes increased EPO.

Answer 15

Answer C= 8 80/100/1-810/900 =0.8/0.1 =8

Answer 16

D, Empowering the parents to take control of the child’s eating habits

Answer 17

Answer A, Single base pair with variation in the population A Single Nucleotide Polymorphism (SNP, pronounced snip; plural snips) is a DNA sequence variation occurring commonly within a population (e.g. 1%) in which a single nucleotide — A, T, C or G — in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes.

Answer 18

B) microdeletion

Answer 19

b. Mild obstructive disease

Answer 20

a. Carbon monoxide inhalation

Answer 21

b. Sodium-chloride channel

Answer 22

a, ?malaria Depends on timing • Malaria doesn’t classically cause diarrhea, neither does dengue o Malaria can cause diarrhea though…basically can cause anything • Typhoid is fever, abdo pain and chills Answer is probably malaria

Answer 23

answer A This group of bacteria can’t live outside the host cells. For e.g. Chlamydial cells are unable to carry out energy metabolism and lack many biosynthetic pathways, therefore they are entirely dependent on the host cell to supply them with ATP and other intermediates. Because of this dependency Chlamydiae were earlier thought to be virus (All viruses are obligate intracellular parasites). Obligate intracellular bacteria cannot be grown in artificial media (agar plates/broths) in laboratories but requires viable eukaryotic host cells (eg. Cell culture, embryonated eggs, susceptible animals). Others include coxiella brunetti and ricketsiea

Answer 24

Answer A The Trendelenburg gait pattern (or gluteus medius lurch) is an abnormal gait (as with walking) caused by weakness of the abductor muscles of the lower limb, gluteus medius and gluteus minimus. People with a lesion of superior gluteal nerve have weakness of abducting the thigh at the hip.

Answer 25

Answer A- prolactin The main hormones that control spermatogenesis are follicle-stimulating hormone (FSH) and testosterone. FSH receptors are present in Sertoli cells and spermatogonia, and androgen receptor (AR) is present in Sertoli cells, Leydig cells, and peritubular myoid cells. FSH acts directly on the Sertoli cell to increase production of androgen-binding protein, transferrin, inhibin B, CYP19, and plasminogen activators [53]. FSH also enhances glucose transport and the conversion of glucose to lactate in Sertoli cells. The production of testosterone in Leydig cells under the control of luteinizing hormone (LH) results in an intratesticular testosterone concentration approximately 100 times greater than that in the peripheral circulation. Sertoli cells contain AR, and a Sertoli cell-selective knockout of AR in mice causes spermatogenic arrests in meiosis. Therefore LH and FSH are not the answer. Factors that influence spermatogenesis include neuropeptides, vasoactive peptides, growth factors, and immune-derived cytokines. Prolactin also has a complex inter-relationship with the gonadotropins, LH and FSH. In males with hyperprolactinemia, the prolactin tends to inhibit the production of GnRH. Besides inhibiting LH secretion and testosterone production, elevated prolactin levels may have a direct effect on the central nervous system. In individuals with elevated prolactin levels who are given testosterone, libido and sexual function do not return to normal as long as the prolactin levels are elevated.

Answer 26

A) LH The α (alpha) subunit (i.e., chorionic gonadotropin alpha) is nearly identical to that of human chorionic gonadotropin (hCG), luteinizing hormone (LH), and follicle-stimulating hormone (FSH). The α subunit is thought to be the effector region responsible for stimulation of adenylate cyclase (involved the generation of cAMP).[6] The α chain has a 92-amino acid sequence. The 3 human pituitary glycoprotein hormones: luteinizing hormone (LH), follicle-stimulating hormone (FSH), thyrotropin (TSH), and the placenta-derived chorionic gonadotropin (hCG), are closely related tropic hormones. They signal through G-protein-coupled receptors, regulating the hormonal activity of their respective endocrine target tissues. Each is composed of an alpha- and a beta-subunit, coupled by strong noncovalent bonds.The alpha-subunits of all 4 hormones are essentially identical (92 amino acids; molecular weight [MW] of the "naked" protein:10,205 Da), being transcribed from the same gene and showing only variability in glycosylation

Answer 27

C, day time sleepiness All can occur but day time sleepiness seems to be the most common theme.. Cataplexy — Cataplexy is emotionally-triggered transient muscle weakness. Hypnagogic hallucinations — Hypnagogic hallucinations are vivid, often frightening visual, tactile, or auditory hallucinations that occur as the patient is falling asleep The symptoms of narcolepsy can appear all at once or they can develop slowly over many years. The four most common symptoms are: excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic hallucinations. In some cases, excessive daytime sleepiness is the only symptom. EDS (excessive day time sleepiness) is usually the first symptom of narcolepsy. People with narcolepsy often report feeling easily tired or tired all the time. They tend to fall asleep not only in situations in which many normal people feel sleepy (after meals or during a dull lecture), but also when most people would remain awake (while watching a movie or writing a letter). People with narcolepsy may also have a "sleep attack" at a very unusual and sometimes dangerous time (while in the middle of a conversation or driving a car)

Answer 28

Answer B- cohort • Prospective cohort study- exposed versus not exposed • Case control: Look at those with disease versus those without • Ecological • Cross section- survey of frequency of disease or risk factor at a defined period of time

Answer 29

D) GH Growth hormone can cause severe headache, blurred vision, vomiting.

Answer 30

Answer D= 100ml | You want to add 50g (or 100ml) of 50% dextrose to 1000mL to make 5% dextrose)

Answer 31

A) BL conductive loss a. Bilateral OM with effusion b. Central auditory processing disorder c. Aminoglycoside toxicity

Answer 32

?Answer c | Or B

Answer 33

Answer phenytoin 0. 5/22= very small number. Ie 0.02L/hr cleared Azathioprine 33/68=0.5L/hr cleared. I.e. cleared more quickly ``` t½ = Vd/Clearance Clearance = Vd/t½ Cl = 0.693 x Vd/t½ ```

Answer 34

E) HBSAg The first serologic marker to appear is hepatitis B surface antigen (HBsAg), which can initially be detected in serum from 1 to 12 weeks (average, 30 to 60 days) after infection. Shortly thereafter, hepatitis B e antigen (HBeAg) generally becomes evident[6,7]. Although serum HBV DNA assays will show the presence of HBV DNA prior to the appearance of HBsAg or HBeAg, with HBV DNA levels often exceeding 10 to 100 million IU/ml, this test is not generally performed for the purpose of diagnosing acute HBV infection.

Answer 35

a. Improved gram negative cover

Answer 36

Answer B- interferon gamma Interferon gamma release assays — IGRAs are in vitro blood tests of cell-mediated immune response. These assays have greater specificity than TST for diagnosis of LTBI and are most useful for evaluation of LTBI in BCG-vaccinated individuals

Answer 37

Answer D IL2 IL-6 actually causes T and B cell proliferantion and differentiation. Not an option listed. But deficiency in IL2 is worse. SCID VARIANTS Interleukin-2 receptor alpha chain (CD25) deficiency — At least three patients have been described with lesions in the interleukin-2 receptor alpha (IL2RA) gene located on chromosome 10p15.1 (MIM #147730) encoding the alpha chain (CD25) of the IL-2 receptor

Answer 38

G Late diastole

Answer 39

C Mid systole

Answer 40

``` Answer D, irritable mood • At least a 2 week period of: • low mood • anhidondonia o sleep disturbance o fatigue o changes in appetite o feeling of worthlessness o difficulty concentrating o suicidal ideation  suicide is the third leading cause of death in adolesents  60% of adolescents will think about suicide • children specific: o irratibility o somatic symptoms: headache, abdo pain etc ```

Answer 41

d. Obtain collaborative history from school teachers Family therapy and stimulants will probably help but need to have collaborative history for diagnosis- makes sure not missing something else. Medication alone in the treatment of ADHD has been shown to be as good as combined treatment (NZ lecture)

Answer 42

A) Not pointing to indicate interest in an object

Answer 43

C) 1:400 1/10 x 1/2 x 1/10 x 1/2

Answer 44

A) propranolol Treat if ulceration, functional or cosmetic impairment. o Treat in about 10% o Treat with propanolol! o Unclear mechanism. Antiangiogenic effect. o S/E: cardiac, hypoglycaemia, GI, bronchial hyperreactivity, mild speech delay, strabismus, sleep disturbance

Answer 45

``` C) 1/400 if the question is what is the risk of the person being effected (not carrier) • mother of affected- must be a carrier • therefore grandmother 50% chance carrier • therefore aunt 50% chance carrier • population risk 1/25 • risk of actually getting disease ¼ • ie: ½ x ½ x 1/25 x ¼ • =1/400 ```

Answer 46

b. Microdeletion

Answer 47

Describing TS which is AD. Answer B- variable expressivity Incomplete penetrance means someone does not have the phenotypic features at all. Penetrance means you either express the phenotype or you don’t

Answer 48

Most likely A) autoimmune neutropaenia Not cyclical as persistently low. Severe congenital neutropenia would be sicker Could be drug induced (eg fluclox)- but after stopping the offending drug usually improves after 1-3 weeks, but can be variable (as per uptodate) • Most common cause will be viral illness • Drugs: flucloxacillin • chronic benign neutropenia o associated with minor infection o <4yo o positive anti neutrophil autoantibodies o 95% remit in 7-24 mths  also consider racial differences. Eg black o refer at 1month o usually don’t get recurrent infections, gingivitis (so… if they are symptomatic think about another cause)

Answer 49

C) WAS ``` Tiny platelets= Wiskott Aldrich o X linked- mutation of WAS gene o Immunodeficiency- recurrent infections o Eczema o Tiny platelets  Splenectomy often improves thrombocytopenia ``` Bernard Souliar aka macrothrombocytopenia o AR o Mildly low platelets o Plt function disorder o Prolonged PFA100 o Giant sized platelets ITP- usually large platelets Kasabach-Merritt- story doesn’t fit and doesn’t say anything about coagulopathy/haemangioma/soft tissue swelling. Glanzmann o An acquired platelet dysfunction disorder. Auto/allo antibody mediated. o Have normal platelet number but abnormal platelet function and abnormal coags (as per pastest)

Answer 50

B) dihydrorhodamine test ``` CGD Symptoms often appear in first year of life with recurrent pyogenic infections recurrent infection with catalase-positive organisms pneumonias aspergillosis skin abscesses pulmonary abscesses chronic diarrhea failure to thrive Physical exam short stature eczematoid dermatitis hepatomegaly ```

Answer 51

C) posterior rib

Answer 52

D) constipation Primary= never been dry Monosymptomatic= only wet at night Constipation is associated with secondary nocturnal enuresis- implying an underlying cause

Answer 53

C) Pyogenic granuloma. Usually painless but people present due to persistent bleeding.

Answer 54

e. 6:1 dexamethasone is 6x more potent than pred

Answer 55

B) epiglottitis Stridor and toxic looking with ?normal xray. This xray doesn’t show any soft tissue swelling…

Answer 56

B) vascular ring Trachea deviated and midline mass/abnormal mediastinum. Other options don’t fit with history provided. Most common is double aortic arch (complete vascular ring)- causes stridor, respiratory distress, may not have heart features, swallowing dysfunction, reflex apnoea.

Answer 57

c. Insert Foley catheter

Answer 58

A? A) behavioural observation audiometry: 8 month - 2yo A simple behavioural audiometry test that includes the use of hand-held sound stimuli representing various frequency ranges (for example a drum, rattle, bell, etc.). This test is used to observe the infant's behaviour in response to certain sounds. B) play audiometry: 2-3 year old headphone testing used on infants and young children mature enough to tolerate this test strategy, which provides specific information about the hearing loss. The test is often made into a game and the child is asked to do something with a toy (e.g. touch a toy) every time a sound is heard. The test thus relies on the active participation of the toddler.

Answer 59

d. Hyper IgM Normal lymphocytes and lymphocyte subsets makes SCID unlikely. IgA usually don’t have severe (PCP) presentation. XLA- cant be as normal lymphocyte subsets (would show absence of B cells) Omenn is a variation of SCID. Hyper IgM- can get PCP classically (marked susceptibility to PCP) • The IgG is not abnormal yet because it is still maternal. Would expect IgG level to decrease in the next 1-2 months as maternal abs go.

Answer 60

c) ipex Haemolytic anaemia, ITP, diabetes (AI), enteropathy Immunodysregulation polyendocrinopathy enteropathy X-linked (or IPEX) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage.[4][5] It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity.[6] The disorder is one of the autoimmune polyendocrine syndromes and manifests with autoimmune enteropathy, psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies, and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid.[

Answer 61

Answer B, dermatomyositis ?If over extensor surfaces then most likely showing gottrons papules- as seen in dermatomyositis

Answer 62

b. Systemic sclerosis

Answer 63

D) angio slit lamp for lentis ectopia Ghent criteria for diagnosising marfans: • In the absence of family history aortic root dilation + ectopia lentis, FBN1 mutation or systemic score>7 • With family history o Ectopia lentis o Systemic score>7 o Aortic root dilatation

Answer 64

D) inadequate dosing Inadequate dosing given trauma. Dosing twice weekly is a prophylactic dose only. In head trauma want to give 100% cover- ie work out dose to replace 100%

Answer 65

Answer C | History suggestive of UC. Associated with toxic megacolon

Answer 66

A) zellweger syndrome Brushfield spots are white/grey lesions around the iris that can be seen in normal children but also seen frequently in T21. This picture doesn’t look like T21 so difficult to answer Q. Prev q: "A male infant is born at term, weighing 2200 g. He is noted to have profound hypotonia and absent reflexes. He has moderately severe hepatomegaly. His facial appearance is shown above." ``` Zellweger- perosixdase disorder: • High forehead • Large anterior fontanelle • Separated cranial sutures • Hypoplastic supraorbital ridges • Upward slant of eyes • Epicanthal folds • Low and broad nasal bridge • High arched palate • Defored ear lobes • Heapatomegaly • Cirrhosis • Biliary dysgenesis • Calcific stippling of the patellae, chondrodysplasia punctate ``` Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations.

Answer 67

C) ODD Many will have a coexisiting behavioural or emotional disorder such as oppositional defiant disorder (frequent), conduct disorder (one third), depression (30%), anxiety (20-30%), learning disability

Answer 68

B) ivermectin (if >15 kg) | otherwise albendazole

Answer 69

Answer A. Central hypoventilation worse when asleep (ondines curse). Others may have respiratory features while awake. • Usually present in infancy with apnoea and cyanosis • Ventilation is better when awake • Developmental delay occurs due to repeated hypoxic injury • Can be associated with other autonomic nervous system problems (hirschprungs, neural crest tumours, iris problems, cardiac arrhythmias)

Answer 70

?B, truncus other prev q: "A four-week-old infant presents with tachypnoea and failure to thrive. On examination the infant has a respiratory rate of 60/minute with subcostal recession. The pulses are full and the liver is palpable 4 cm below the right costal margin. The praecordium is active. On auscultation there is an audible ejection click and a non-specific systolic ejection murmur is noted at both upper sternal edges. The infant’s oxygen saturation in room air is 93%." Cardiomegaly, hypoxic, pulmonary plethora, slow weight gain- possibly indicating failure • TGA likely present earlier • TOF-present with gradual cyanosis (presenting with cyanosis early is rare). Murmur usually ejection and pan systolic. o TOF don’t get heart failure because no cardiac chamber is under volume strain o CXR can be normal with decreased pulmonary vascularity • AVSD- can present with heart failure, hyperactive precordium, increased pulmonary componenet of S2, SEM at LUSE. o CXR shows cardiomegaly. ECG- left ward and superior axis. Can develop pulmonary artery hypertension • Trucus- most present within first weeks of life with cyanosis, respiratory distress and heart failure +/- murmur. Murmur is LUSE, bounding peripheral pulses. o Almost hall have a VSD o Develop HF in several days to weeks after birth o ECG: BVH. LAH occasionally o CXR: cardiomegaly with increased pulmonary vascularity

Answer 71

C) unable to walk independently Periventricular leukomalacia occurs most commonly in premature infants born at less than 32 weeks' gestation. Many infants with periventricular leukomalacia later develop signs of CP. Spastic diplegia is the most common form of CP following mild periventricular leukomalacia. Severe periventricular leukomalacia is frequently associated with quadriplegia. Varying degrees of intellectual impairment, developmental impairment, or both have been reported in association with periventricular leukomalacia. Fixation difficulties, nystagmus, strabismus, and blindness have been associated with periventricular leukomalacia. Some cases of visual dysfunction in association with periventricular leukomalacia occur in the absence of retinopathy of prematurity, suggesting damage to optic radiations as causation.

Answer 72

b. borderline personality disorder

Answer 73

?B) 3 ml adrenalin 1:10000 if 30 kg dose is 0.1ml/kg of 1:10000

Answer 74

A) lamotrigine

Answer 75

? supposed to indicate growth hormone insufficiency optic gliomas don’t cause feeding problems.. unless right in optic chiasm- compression against pituitary. Pineal cysts are usually benign Very unlikely to have medulloblastoma at this age Craniopharyngioma- can present with: • Visual abnormalities • Growth failure- either from low TSH or GH- is the most common presentation in children • Headaches • Nausea/vomiting Peak age 5-14yo…so this case very atypical ``` Hypothalamic glioma: three E’s • Emaciated • Emesis • Euphoria ?Answer B ```

Answer 76

?a Bilateral oedema, hepatomegaly, low albumin, losing in urine The term congenital nephrotic syndrome refers to disease that is present at birth or within the first three months of life. Later onset, between three months and one year of age, is called infantile nephrotic syndrome. Most of these children have a genetic basis for the renal disease and a poor outcome. The precise diagnosis of the glomerular lesion is based on clinical, laboratory, and histological criteria A1AT- gives hepatosplenomegaly, bleeding, deranged LFTs Heart failure- possible- ?doesn’t explain large protein loss in urine Neonatal haemochromatosis- present earlier and get deranged LFTs high ferritin Glycosylation defect: can present in a variety of ways. Including above * Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins * ALG8-CDG (CDG-Ih) * A four-month-old female had moderate hepatomegaly, severe diarrhea, and hypoalbuminemia from protein-losing enteropathy, normal facial features, and normal development [Chantret et al 2003]. She had decreased levels of factor XI, protein C, and antithrombin III.

Answer 77

c. Angleman Syndrome

Answer 78

C) increase PEEP metabolic acidosis, low CO2 increase CO2- either decrease PIP, increase PEEP or decrease rate.

Answer 79

e. Loss to follow up Loss to follow up has an important impact on external validity.

Answer 80

b. Lowe syndrome • cataracts • rickets • amino aciduria, glycosuria- consistent with RTA • low urine pH o differentiating between RTA type 1 and 2. RTA type 1 urine pH cannot be <5.5 o other differentiating feature is distal RTA often get stones (secondary to hypercalciuria) • Low syndrome and cystinosis are causes of RTA type 2 (Fanconi syndrome- proximal RTA) • Bartter would not explain amino aciduria or ?cataracts. o Biochemical findings in Barters: metabolic alkalosis, low serum K, CL, Mg, elevated Ca. o Urine excessive K and Cl loss Cystinosis: From uptodate • Renal symptoms — The first clinical signs of infantile cystinosis appear between three and six months of age; they are largely due to impaired proximal tubular reabsorptive capacity, leading to the varied manifestations of the de Toni-Debré-Fanconi syndrome (glycosuria, metabolic acidosis, phosphaturia, and aminoaciduria). Sodium wasting and resistance to antidiuretic hormone (nephrogenic diabetes insipidus) can result in polyuria (reaching 2 to 3 L/day), polydipsia, poor weight gain, vomiting, constipation, weakness, unexplained fever, and acute dehydration episodes [33]. Growth retardation and rickets (manifested by swelling of the wrists, frontal bossing, and genu valgum) are often noted at presentation due in part to phosphate wasting and hypophosphatemia. * Eyes − The eyes are involved early in the course of the disease, as cystine deposits in the cornea and the conjunctiva can be seen on slit-lamp examination. These deposits are responsible for photophobia, watering, and blepharospasm. Irregular and peripheral depigmentation of the retina is also an early finding. Visual impairment may occur later, in children older than 10 years [35,36]. Hemorrhagic retinopathy may also be a complication of this disorder * Hypothyroidism * Hepatomegaly * Muscle weakness * Insulin dependent diabetes Lowe syndrome — The Lowe oculocerebrorenal syndrome is phenotypically similar to Dent's disease; low-molecular-weight proteinuria and hypercalciuria are present in both disorders. However, patients with Lowe oculocerebrorenal syndrome also have renal tubular acidosis, congenital cataracts, and mental retardation, findings which are absent in Dent's disease [3,29,30,50]. In addition, patients with the Lowe oculocerebrorenal syndrome commonly have growth failure, which corrects with alkali therapy, and progressive renal impairment that is typically more aggressive and occurs at an earlier age than the renal impairment in Dent's disease

Answer 81

C) ADPKD ARPKD usually present at birth with other features…olighydramnios • Both kidneys are markedly enlarged and grossly show innumberable cysts throughout the cortex and medulla • Microscopically: dilated ectatic collecting ducts • Development of progressive interstitial fibrosis and tubular atrophy during advanced stages of disease eventually leads to renal failure • Liver involvement characterized by basic ductal plate abnormality that leads to bile duct proliferation and ectasia and hepatic fibrosis Clinical features • Wide phenotypic variation • Presents with bilateral flank masses during the neonatal period • Associated with oligohydramnios, pulmonary hypoplasia, respiratory distress and spont pneumothorax in the neonatal period o Due to oligohydramnios get micrognathia, flattened nose, limb positioning defects, growth deficiecncy o In newborn liver disease detected either radiologically or clinical laboratory in 45% • Hypertension is usually noted within first few weeks of life, is severe and difficult to control • Transient hyponatraemia • Oliguria and renal failure are uncommon • Uncommonly presents beyond the infant years with renal and hepatic findings- portal hypertension, varices, prominent cutaneous periumbilical veins Diagnosis • Stongly suggestive with bilateral flank masses in an infant with pulmonary hypoplasia, oligohydramnios, hypertension and absence of renal cysts • US- enlarged poor corticomedullary differentiation ADPKD- usually present in adulthood, later childhood. • Is the most common inherited kidney disease Pathology • Both kidneys are enlarged and show cortical and medullary cysts originiating from all regions of the nephron • 85% have mutations of PKD1 gene on the short arm of chromosome 16- encodes for polycycstin (transmembrane glycoprotein) • formation of cysts: due to abnormal growth factor expression, low intracellular calcium and elevated cAMP Clinical presentation • symptomatic disease occurs in 4th or 5th decade, but can be seen in children o hypertension o urinary tract infection o gross or microscopic haematuria o bilateral flank pain o abdominal mases • Renal US: multiple bilateral macrocysts in enlarged kidneys • It is a systemic disorder, cysts may also be present in: o Liver, pancrease, spleen and ovaries o Intracranial aneurysms appear to cluster within some families- overall prevalence 5% o Mitral valve prolapse in 12% o Hernias, intestinal diverticular o Association with renal cell carcinoma Diagnosis • Enlarged kidneys with bilateral macrocysts in a patient with a first degree relative affected. • De novo diagnosis may be made in 5-10% of cases • Prenatal diagnosis made if have enlarged kidneys are there is family history o DNA testing is available for those with PKD1 or PKD2 gene mutations Treatment • Supportive • Control of blood pressure- associated with hypertension o NB calcium channel blockers increases disease progression • Normal renal function in childhood is seen in >80% • By age of 60 50% will have ESRF • Multicystic dysplastic kidney- one dysplastic kidney- other if normal becomes hypertrophied • Ie is uni lateral • Often detected antenatally Given that it’s bilateral and child is otherwise asymptomatic- most likely ADPKD

Answer 82

A, Idiopathic neprhocalcinosis CLINICAL PRESENTATION — Nephrocalcinosis is, in most cases, an asymptomatic, chronic, and slowly progressive disease that is discovered as an incidental finding during radiographic imaging of the abdomen or chest. Such imaging may be obtained as part of the evaluation of nephrolithiasis, which often coexists with nephrocalcinosis. However, occasional patients present with clinical symptoms that are related to nephrocalcinosis or to the causative process (eg, hypercalcemia). These include renal colic and polyuria and polydipsia: Imaging — Macroscopic nephrocalcinosis may be detected by multiple imaging techniques, including abdominal plain film, ultrasound (US), and CT imaging [26,42-45]. Calcification is poorly visualized by magnetic resonance imaging • No other features in stem to suggest William syndrome- but nephrocalcinosis can occur o Hypercalciuria is often found during episodes of hypercalcemia and infrequently results in nephrocalcinosis, which is detected in about 5 to 10 percent of patients undergoing renal ultrasonography [11,18,25-27]. Hypercalciuria is not common after the first year of life • No other bloods/urine given to be able to diagnose RTA or Barters- but nephrocalcinosis can occur • Vit D intoxication very unlikely- but nephrocalcinosis can occur. Depends what other bloods are

Answer 83

C) vanc plus mero ESBL-therfore cefotax no good. Best thing for ESBL is carbapenems… although this does say its aminoglycoside susceptible. ``` Mero will cover everything…. And is better GP cover than vanc… for listeria. Want to cover: o Listeria (GP) o E.coli o GBS (GP) ```

Answer 84

B) kingella kingae o Kingella kingae is being recognized increasingly as a common etiology of pediatric osteoarticular infections, bacteremia, and endocarditis, which reflects improved culture methods and use of nucleic acid–amplification techniques in clinical microbiology laboratories o K kingae is a facultative anaerobic, ß-hemolytic, Gram-negative organism that appears as pairs or short chains of plump bacilli with tapered ends (Fig 1) and that tends to resist decolorization, which sometimes results in its misidentification as Gram-positive o Affected children presented with osteomyelitis, septic arthritis, endocarditis, or spondylodiscitis

Answer 85

B) perthes

Answer 86

a) aynovial cyst

Answer 87

A) High PTH, low Ca, high PO4, low 1,25 vit D pseudohypoparathyroidism

Answer 88

B) mannitol cerebral oedema

Answer 89

Answer A | Undable to convert testosterone to DHT

Answer 90

A) MEN2b- medullary thyroid carcinoma Patients with MEN2B also have development abnormalities, a decreased upper/lower body ratio, skeletal deformations (kyphoscoliosis or lordosis), joint laxity, Marfanoid habitus, and myelinated corneal nerves. Disturbances of colonic function are common, including chronic constipation and megacolon [17]. Unlike patients with Marfan's syndrome, MEN2B patients do not have ectopia lentis or aortic abnormalities

Answer 91

?D Primary polydipsia — Primary polydipsia (sometimes called psychogenic polydipsia) is characterized by a primary increase in water intake. This disorder is most often seen middle-aged women and in patients with psychiatric illnesses, including those taking a phenothiazine which can lead to the sensation of a dry mouth. Primary polydipsia can also be induced by hypothalamic lesions that directly affect the thirst center, as may occur with an infiltrative disease such as sarcoidosis. • He may be drinking overnight also. Plasma sodium and urine osmolality — Each of the three causes of polyuria — primary polydipsia, central DI, and nephrogenic DI — is associated with an increase in water output and the excretion of a relatively dilute urine. With primary polydipsia, the polyuria is an appropriate response to enhanced water intake; in comparison, the water loss is inappropriate with either form of DI. Measurement of the plasma sodium concentration and the urine osmolality may be helpful in distinguishing between these disorders: • A low plasma sodium concentration (less than 137 meq/L) with a low urine osmolality (eg, less than one-half the plasma osmolality) is usually indicative of water overload due to primary polydipsia.\ • A high-normal plasma sodium concentration (greater than 142 meq/L, due to water loss) points toward DI, particularly if the urine osmolality is less than the plasma osmolality [1]. • A normal plasma sodium concentration is not helpful in diagnosis but, if associated with a urine osmolality more than 600 mosmol/kg, excludes a diagnosis of DI. Urinary sodium and osmolality are best measured by 24-hour urine collection. Typically, hyponatraemia is hypotonic and euvolaemic. Urinary osmolality is under 100 mOsm/kg H2O, and serum osmolality is also low (<280 mOsm/kg H2O).

Answer 92

c. Benign Rolandic Epilepsy

Answer 93

A) dravet seizures with fever

Answer 94

B, toxo • Hydrocephalus, chorioretinitis and intracranial calcifications= toxo

Answer 95

Meets DSM criteria for depression. Chronic disease with physical disability are at high risk of adjustment disorder. At 3x risk of mental illness (as per NZ lecture) Answer B, could also be A.

Answer 96

B, VOD • Abdo pain, bili, weight gain= VOD

Answer 97

B) SVC obstruction secondary to T cell lymphoma

Answer 98

C) tof Cyanosis, murmur and boot shaped heart= TOF. • ECG would show RAD and RVH • For TOF’s to present with cyanosis in first few days of life is rare • Truncus: o Can cause murmur/no murmur • TGA o Can cause murmur and cyanosis. Would expect more pulmonary plethora. • • AVSD most common lesion to occur in T21 though. o Present with heart failure rather than cyanosis o CXR show cardiomegaly o ECG-leftward and superior axis

Answer 99

?how high urea If ammonia was very high then answer would be D. If only moderately high (<200) then could be B. Organic acidosis present with: severe acidosis (increased anion gap), lethargy, poor feeding, vomiting, severe ketoacidosis, increased plasma ketones)

Answer 100

?C tyrosinaemia Not D- likely to have high LFT and very high ferritin ``` A1AT ?mode of inheritence Clinical presentation • Neonatal hepatitis- between day 4 and 4 months of life • Hepatomegaly • Elevated ALT • Ascites • Bleeding ``` ``` Galactosemia • AR Infants with classic galactosemia usually present in the first few days after birth and initiation of breast milk or cow's milk-based formula feedings. Specific signs and symptoms occur with different frequencies. The most common findings are • jaundice • vomiting • hepatosplenomegaly • lethargy • failure to thrive • poor feeding • diarrhea • sepsis Ix: • Liver dysfunction – Conjugated or unconjugated hyperbilirubinemia, abnormal liver function tests, coagulopathy, increased levels of plasma amino acids (especially phenylalanine, tyrosine, and methionine). • Renal tubular dysfunction – Metabolic acidosis, galactosuria (which may be indicated by the presence of reducing substances in the urine), glycosuria, aminoaciduria, albuminuria. • Hemolytic anemia. ``` Tyrosinaemia HT1 clinical features — HT1 is characterized by severe progressive liver disease and renal tubular dysfunction. The latter typically is manifest as the Fanconi syndrome with renal tubular acidosis, aminoaciduria, and hypophosphatemia (due to phosphate wasting) [18]. Features of rickets often are present. Most patients present in early infancy with failure to thrive and hepatomegaly. Some develop conjugated hyperbilirubinemia. An often marked elevation in serum alpha fetoprotein (AFP) is common in HT1. Studies in newborns have shown that cord blood AFP is elevated at a time when tyrosine levels are still normal [19]. This observation suggests that the liver disease begins prenatally, as does the common finding of nodularity or cirrhosis in affected neonates. (See "Causes of neonatal cholestasis".) Progression of the liver disease can be chronic or acute, with rapid deterioration and early death [1]. Liver dysfunction commonly results in hypoglycemia and coagulation abnormalities. Serum aminotransferase levels typically are only mildly elevated and often disproportionately low compared with the marked degree of coagulopathy. Complications of liver failure, including jaundice, ascites, and hemorrhage often develop. The chronic form consists of a mixed micronodular and macronodular cirrhosis. The risk of developing hepatocellular carcinoma is high in survivors, occurring in as many as 37 percent of untreated patients older than two years of age [20,21]. Cancer formation is thought to be caused by the mutagenicity of FAA. ?Answer C- tyrisonaemia

Answer 101

C Screening- WISC • Gold standards: o WPPSI- 2.5-7 o WISC- age 5-18 • People are trained how to do the bayley and Griffiths scales- usually psychologist o These are assessments not “screening” tools

Answer 102

A) azathioprine but can be any Uptodate actually says all of these can be used and there does not appear to be data saying one is better than the other… As per eTG: Early recognition of the nonresponding patient In patients with severe ulcerative colitis, deterioration (especially development of toxic megacolon), or failure to respond after 3 to 5 days of intravenous corticosteroid treatment, requires consideration of prompt medical salvage therapies or colectomy. Superinfection with cytomegalovirus should also be considered in refractory patients, and can be excluded by sigmoidoscopy and biopsy. Patients should be managed in a specialist centre. Medical salvage therapies include intravenous cyclosporin or infliximab. Use: 1 cyclosporin 2 to 4 mg/kg IV, daily as a continuous infusion OR 1 infliximab 5 mg/kg IV infusion over 2 hours, as a single dose. Substitute oral corticosteroids when disease activity has subsided. Avoid loperamide, other antidiarrhoeal and anticholinergic drugs and opioid analgesics in severe ulcerative colitis. Avoid loperamide, other antidiarrhoeal and anticholinergic drugs and opioid analgesics in severe disease, as they may precipitate toxic megacolon. Chronically active or frequently relapsing ulcerative colitis Some patients with extensive ulcerative colitis do not respond to corticosteroids, or require prolonged corticosteroid therapy to control disease activity. Treatment options in these patients include the thiopurine immunomodulatory drugs (azathioprine or mercaptopurine), methotrexate, infliximab, and surgery. Use: 1 azathioprine (adult and child) 2 to 2.5 mg/kg orally, daily OR 1 mercaptopurine (adult and child) 1 to 1.5 mg/kg orally, daily. If a patient has adverse effects to azathioprine or mercaptopurine, consider using methotrexate despite limited evidence for efficacy. A suitable regimen is: methotrexate 25 mg SC, IM or orally, on one specified day per week (see Methotrexate for information on adverse effects and monitoring) PLUS folic acid 5 to 10 mg orally, once weekly (preferably not on the day that the methotrexate is taken). These drugs are associated with significant adverse effects so monitor carefully for complications, especially during the first 3 months of therapy (see Azathioprine and mercaptopurine and Methotrexate). If the patient is unresponsive or intolerant after 3 months of treatment, use: 1 infliximab (adult and child) 5 mg/kg IV infusion over 2 hours. If there is a clinical response, infliximab may be continued as maintenance therapy (see Maintenance therapy for ulcerative colitis) OR 2 methotrexate 25 mg SC, IM or orally, on one specified day per week (see Methotrexate for information on adverse effects and monitoring) PLUS folic acid 5 to 10 mg orally, once weekly (preferably not on the day that the methotrexate is taken). Surgery (proctocolectomy with either ileal pouch–anal anastomosis or end-ileostomy) may be considered for treating chronic refractory disease.

Answer 103

B) neuroblastoma If it’s crossing midline and some calcifications probably NBL

Answer 104

A) Axis- leftward…normal for age. +10 +110 for 3mth-1yr olds. LVH Upright T waves in lead V1, big S wavee in V6… BVH -St elevation I nV4-6 -Big Q wave in I, V5, V6 -not viral myocarditis- can get decreased QRS voltate -age 8mth…. Most likely VSD -anamolous LCA- features of anterolateral MI -dilated cardiomyopathy- atrial or ventricular hypertrophy, t wave changes +/- arrhythmias

2014 remembered Flashcards

(143 cards)