2015 remembered Flashcards
Which of the following syndromes is associated with moya moya, picture of moya moya shown (puff of smoke)?
A. TS B. Angelman C. Williams D. NF1 E. Noonans
D. NF1
Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1.
The disease is characterized by unilateral or bilateral stenosis or occlusion of the internal carotid arteries, at the entry point into the circle of Willis, consequently leading to a prominent collateral arterial circulation which often resembles a puff of smoke. Also associated with down syndrome, and polycystic kidney disease.
Ivacaftor is used in CF individuals with the mutation G551D, in which class of mutations is this medication effective?
A. Class I B. Class II C. Class III D. Class IV E. Class V
C. Class III = no functional protein
[delta F508 = class II - misfolded]
Ivacaftor (trade name Kalydeco) is a “potentiator” of CFTR and increases the probability that the defective channel will be open and allow chloride ions pass through the channel pore.
Which of the following factors has the shortest half life in the circulation?
A. Factor II B. Factor V C. Factor VII D. Factor X E. Factor XIII
C. Factor VII
Factor VII circulates as a single-chain zymogen of molecular weight of about 50,000 Daltons. It has the shortest half-life of the procoagulant factors, approximately 3-6 hours.
o Factor XII: Half life 60 hrs o Factor XI: Half life 52 hrs o Factor IX: Half life 18-24 hrs o Factor VIII: Half life 8-12 hrs o Factor VII: Half life 3-6 hours o Factor X: Half life 30-40 hrs o Factor II (Prothrombin): Half life 60-70 hrs o Factor I (Fibrinogen): Half life 72-120 hrs o Protein C: Half-life 6 hrs
The mechanism of action of Diazoxide in hyperinsulinemic hypoglycemia is as follows.
A. K channel antagonist
B. K channel agonist
B. K channel agonist
Diazoxide inhibits insulin release from the pancreas, probably by opening potassium channels in the beta cell membrane.
Also used in hyptertension as a vasodilator.
Blood gas shown: pH 7.35, pCO2 32, bicarb 16.
A. Metabolic acidosis B. Compensated metabolic acidosis C. Mixed metabolic and respiratory acidosis D. Respiratory acidosis E. Compensated respiratory acidosis
B. Compensated metabolic acidosis
Normal bicarbonate: 22 to 28 mEq/L
An immunocompromised boy was sitting in class next to a girl who developed chicken pox. He is unvaccinated but had chicken pox when he was 3. What is the most appropriate course of action?
A. No treatment B. School exclusion for the boy C. IV aciclovir D. PO aciclovir E. Varicella Ig
?A. No treatment or B
If shows serological immunity (previous chicken pox), not for IVIG.
No evidence for aciclovir. “Limited data regarding acyclovir as post-exposure prophylaxis are available for healthy children, but no studies have been conducted in adults or immunocompromised people. Clinicians may choose this option if active or passive immunization is not possible.”
Which of the following is an example of a triplet repeat disorder?
A. Noonans B. Duchennes MD C. Spinal muscular atrophy D. Friedrich’s ataxia E. Velocardiofacial
D. Friedrich’s ataxia
Gene FXN. Repeat GAA. Normal 7-34; pathogenic 100+
Others:
- Fragile X: FMR1 CGG. Normal 6-53; pathogenic 230+
- Myotonic dystrophy 1 - DMPK; GTG repeat. Normal 5-34, path 50+
In Duchenne’s muscular dystrophy, how has the gene been affected?
A. Point mutation
B. Insertion
C. Deletion
C) deletion
Duchenne and Becker muscular dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene (DMD). The disease is an X-linked neuromuscular diseases typically caused by disrupting (DMD) or non-disrupting (BMD) the reading frame in the dystrophin (DMD) gene.
Sunset eyes are due to compression of which structure.
A. Midbrain
B. Medial lemniscus
C. Facial nerve
A. Midbrain
Parinaud’s syndrome results from injury, either direct or compressive, to the dorsal midbrain. Specifically, compression or ischemic damage of the mesencephalic tectum, including the superior colliculus adjacent oculomotor (origin of cranial nerve III) and Edinger-Westphal nuclei, causing dysfunction to the motor function of the eye.
Classically, it has been associated with young patients with brain tumors in the pineal gland or midbrain: pinealoma (intracranial germinomas) are the most common lesion producing this syndrome.
Which of the following hormones acts directly on the cell surface rather than a nuclear receptor?
A. Thyroxine
B. Prolactin
C. Vitamin D
D. Oestrogen
B. Prolactin
Prolactin receptor is located essentially on the plasma and intracellular membranes of target cells.
- Thyroxine receptors - DNA
- Vitamin D receptors (VDR) - located in the nucleus of target cells
- In the absence of hormone, estrogen receptors are largely located in the cytosol. Hormone binding to the receptor triggers a number of events starting with migration of the receptor from the cytosol into the nucleus,
Which of the following reduces calcium absorption in the GIT.
A. Corticosteroids
B. Parathyroid hormone
C. Vitamin D
A. Corticosteroids
Pharmacologic doses of corticosteroids impair intestinal calcium absorption and contribute to negative calcium balance.
PTH and Vit D increase Ca absorption
Omalizumab works by antagonising which of the following.
A. CD20 B. CD3 C. IgE D. T cells E. IFN alpha
C. IgE
Glucose transport in the proximal tubule is regulated how?
A. Active transport
B. Co-transport
C. Passive diffusion
D. Active diffusion
C. Passive diffusion
GLUT4 works in which of the following tissues.
A. Adipose tissue and pancreas B. Adipose and skeletal muscle C. Skeletal muscle and liver D. Liver and adipose tissue E. Skeletal muscle and pancreas
B. Adipose and skeletal muscle
Child has diarrhoea, failure to thrive and eczematous rash. Is presume to have Omenn Syndrome. This is due to mutations in which of the following?
A. RAG1/RAG2
B. AIRE
C. Fox P3
D. STAT3
A. RAG1/RAG2
Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum IgE levels.
Associated with low IgG, IgA, and IgM and the virtual absence of B cells. There is an elevated number of T cells, but their function is impaired
Large 4.3kg baby suffers a birth injury. Has difficult with intrinsic muscles of hands but is able to move shoulder and elbow normally. He has an associated horners. Damage is due to which of the following nerves?
A. C5,6
B. C6,7
C. C7, 8
D. C8, T1
D) C8,T1 (Klumpke paralysis)
Symptoms include intrinsic minus hand deformity,[10] paralysis of intrinsic hand muscles, and C8/T1 Dermatome distribution numbness. Involvement of T1 may result in Horner’s syndrome, with ptosis, and miosis.
Pathophysiology of transient tachypnoea of the newborn.
Table included minute volume, tidal volume, resistance, compliance. Had to choose if each was increased/decreased.
Resistance = inc
Compliance = decreased (as in HMD),
then get decreased TV.
If dec TV, then to maintain MV (MV = TV x RR), must inc RR.
Pulmonary compliance refers to a given change in volume (ΔVolume) for every given change in pressure (ΔPressure), essentially the ability of the alveoli to fill with air under a set pressure.
Increased work of breathing results from mismatched pulmonary mechanics from increased airway resistance (ΔPressure/Volumetric Flow), decreased lung compliance (ΔVolume/ ΔPressure), or both.
In the most common type of Hirschprung’s – the abnormality extends to which anatomical location.
A. Caecum B. Sigmoid C. Descending colon D. Transverse colon E. Ascending colon
B) sigmoid
There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally.
Classified as short segment HSCR (S-HSCR, 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and long segment HSCR (L-HSCR, 20% of cases) when aganglionosis extends proximal to the sigmoid
A teenager is being treated with an ASA for ulcerative colitis but has required several courses of steroids, what is the most appropriate steroid sparing agent?
A. Azathioprine
B. INF
C. Infliximab
D. Mycophenolate
A. Azathioprine
Which of the following chemotherapeutic agents can cause lung fibrosis?
A. Doxaurubicin B. Cisplatin C. Cyclophosphamide D. Bleomycin E. Vincristine
D. Bleomycin
Which of the following chemotherapeutic agents can result in infertility?
A. Doxaurubicin B. Cisplatin C. Cyclophosphamide D. Bleomycin E. Vincristine
C. Cyclophosphamide
A child is born with puffy hands and feet. Blood tests and urine examination are unremarkable. What is the most likely diagnosis?
A. Congenital nephrotic syndrome
B. Congenital lymphoedema
B. Congenital lymphoedema
Congenital lymphedema is swelling that results from abnormalities in the lymphatic system that are present from birth. Swelling may be present in a single affected limb, several limbs, genitalia, or the face. Frequently syndromic and is associated with Turner syndrome.
Congenital nephrotic syndrome (CNS) is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth.
Post-transplant lymphoproliferative disorder is due to a proliferation of B cells in association with which of the following?
A. EBV
B. CMV
C. VZV
D. HSV
A. EBV
Superantigen effects are due initially to massive activation of which of the following cells?
A. CD4
B. CD8
C. Complement
D. B cells
A. CD4
- causes non-specific activation of T-cells resulting in polyclonal T cell activation and massive cytokine release.
Which of the following immunoglobulin is resistant to proteolysis?
A. IgA B. IgE C. IgM D. IgD E. IgE
A) IgA
IgA is particularly resistant to proteolysis and is important in host defense at mucosal surfaces.
Which of the following are inherently resistant to cephalosporins?
A. Enterococcus faecalis
B. Pseudomonas
A) Enterococcus faecalisram-positive bacterium that is intrinsically resistant to cephalosporins
Photo of boy with winged scapula. Due to damage to which of the following nerves?
A. Long thoracic nerve
B. Axillary nerve
A. Long thoracic nerve
This is typically due to damage (i.e. lesions) of the long thoracic nerve.[1] This nerve supplies the serratus anterior, which is located on the side of the thorax and acts to pull the scapula forward.
Which of the following is the most important long-term prognostic factor in HUS?
A. Duration of anuria
B. Need for dialysis
C. Peak serum Creatinine
D. Age of child
?A
Poor prognostic indicators include the following:
Elevated WBC count at diagnosis
Prolonged anuria
Severe prodromal illness
Severe hemorrhagic colitis with rectal prolapse or colonic gangrene
Severe multisystemic involvement
Persistent proteinuria
Genetic abnormalities in complement regulatory factors
Which of the following is the most common cause of death in 1-4 year olds?
A. Infection
B. Injury
C. Congenital malformations
B. Injury
Which of the following is the commonest cause of mortality in sickle cell <5 years?
A. Splenic sequestration
B. Invasive pneumococcal sepsis
B. Invasive pneumococcal sepsis
“The proportion of deaths from infection was 50% in the CSSCD infant cohort, 28% in Jamaica, and 20% in Dallas. Four Dallas subjects died of pneumococcal sepsis…All occurred before the heptavalent-conjugated pneumococcal vaccine (PCV-7) was licensed. … After infection, the most common causes of death in the Dallas Newborn Cohort were the acute chest syndrome and multiorgan failure syndrome. No subject was known to have died of acute splenic sequestration.”
Quinn CT, Rogers ZR, Buchanan GR. Survival of children with sickle cell disease. Blood. 2004;103(11):4023–4027. doi:10.1182/blood-2003-11-3758
A child has a recurrent UTI. Urine grows a pure growth of E. Coli, sensitive to bactrim, amp and mero with ESBL detected. What is the most appropriate course of antibiotic therapy?
A. Bactrim
B. Meropenem
C. Amp + gent
B. Meropenem
The commonest cause of superinfection in eczema is?
A. Staph Aureus
B. Scabies
C. Varicella
A) staph
Bacterial skin infection is extremely common in atopic dermatitis. This is usually with staphylococcal or streptococcal bacteria (see staphylococcal skin infections and streptococcal skin infections). Infection is in part due to breaks in the skin from very dry, split skin and from scratching the itchy areas. People with atopic dermatitis also seem to have a reduced ability to fight against these common bacteria on the skin.
- Dermnet
A child suffers a seizure with tonic eye deviation to the right with facial twitching. Which part of the brain is involved?
A. Right temporal lobe B. Left temporal lobe C. Left frontal lobe D. Left occipital lobe E. Right occipital lobe
B. Left temporal lobe
A new study has recruited 100 patients with the disease of interest. This is an example of what phase of clinical trial?
A. Phase I B. Phase II C. Phase III D. Phase IV E. Phase V
B Phase II
Phase I Clinical Trial
Phase I clinical trials are done to test a new biomedical intervention for the first time in a small group of people (e.g. 20-80) to evaluate safety (e.g. to determine a safe dosage range and identify side effects).
Phase II Clinical Trial (with disease)
Phase II clinical trials are done to study an intervention in a larger group of people (several hundred) to determine efficacy (that is, whether it works as intended) and to further evaluate its safety.
Phase III Clinical Trial
Phase III studies are done to study the efficacy of an intervention in large groups of trial participants (from several hundred to several thousand) by comparing the intervention to other standard or experimental interventions (or to non-interventional standard care). Phase III studies are also used to monitor adverse effects and to collect information that will allow the intervention to be used safely.
Phase IV Clinical Trial
Phase IV studies are done after an intervention has been marketed. These studies are designed to monitor the effectiveness of the approved intervention in the general population and to collect information about any adverse effects associated with widespread use over longer periods of time. They may also be used to investigate the potential use of the intervention in a different condition, or in combination with other therapies.
