Day 10
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| Which inheritance defect?: Ragged, red m fibers seen on biopsy. | Mitochondrial
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| Which inheritance defect?: Leber's hereditary optic neuropathy | Mitochondrial
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| Which inheritance defect? Leigh syndrome (subactue sclerosing encephalopathy) | Mitochondrial
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| Hypotonia, poor feeding, almond shaped eyes, downward turned mouth. Paternal deletion of chromosome 15. What type of genetic phenomenon is this? | Prader Willi. Imprinting (maternal deletion of chromo 15 results in different diseased called Angelman's)
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| What is the treatment for Prader Willi? | Limit access to food. Tx with GH if they have short stature.
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| What autosomal dominant disease fits the following statement? A/w floppy mitral valve, dissecting aortic aneurysm, berry aneurysm | Marfan's
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| What autosomal dominant disease fits the following statement? A/w mitral valve prolpase, liver disease, and berry aneurysms | Autosomal Dominant Polycystic Kidney Disease
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| What autosomal dominant disease fits the following statement? Neural tumors and pigmented iris hamartomas | Neurofibromatosis type 1
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| What autosomal dominant disease fits the following statement? Very strong assoc'n with colon cancer. Which mutation is assoc'd? | FAP (assoc'd with APC mutation)
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| What autosomal dominant disease fits the following statement? MI before age 20 | Familial hypercholesterolemia (part of differential in young man who drops dead; also think hypertrophic cardiomyopathy)
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| What autosomal dominant disease fits the following statement? Hemangioblastomas of retina/cerebellum/medulla. | von Hippel Lindau syndrome
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| What autosomal dominant disease fits the following statement? Increased MCHC, hemolytic anemia. What is the treatment? | Hereditary spherocytosis. Tx is splenectomy.
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| What autosomal dominant disease fits the following statement? Bilateral acoustic neuromas | Neurofibromatosis type 2
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| What autosomal dominant disease fits the following statement? Facial lesions, seizure d/o, cancer risk | Tuberous sclerosis
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| What autosomal dominant disease fits the following statement? Caudate atrophy, dementia | Huntington's
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| What autosomal dominant disease fits the following statement? Cystic medial necrosis of the aorta | Marfan's
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| What autosomal dominant disease fits the following statement? Defect of fibroblast growth factor 3 (FGF 3) | Achondroplasia (dwarfism)
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| How does a defect in the transmembrane chloride channel cause dry mucus in CF patients? | Where Cl goes, Na follows. Where Na goes, water follows. So without NaCl, there is no water to follow and make mucus liquid-y so it can clear out organisms and debris.
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| Which lysosomal storage disease is assoc'd with renal failure? What is the tx? | Fabry's disease; tx=dialysis
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| What are the only 2 X-linked recessive lysosomal storage diseases? What is the method of inheritance of the others? | Fabry's and Hunter's (X marks the spot for a treasure Hunter). All others are autosomal recessive.
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| What is the MC lysosomal storage disease? | Gaucher's disease
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| Which lysosomal storage diseases are assoc'd with an early death (usually by age 3)? | Tay Sachs, Neimann-Pick, and Krabbe's disease
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| Which lysosomal storage disease is a demyelinating disease? | Metachromatic leukodystrophy (AR); leuko=white=myelin
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| How might corneal clouding and mental retardation distinguish between the mucopolysaccharidoses? | *Hurler's: +corneal clouding, +MR.
*Hunter's: -corneal clouding, +MR.
*Scheie's: +corneal clouding, -MR.
*I-cell: +corneal clouding, +/-MR
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: alpha L ioduronidase | Hurler's and Scheie's (milder form of Hurler's)
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: Iduronate sulfatase | Hunter's
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: arylsulfatase A | Metachromatic leukodystrophy
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: alpha-galactosidase A | Fabry's disease
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: galactocerebrosidase (-->galactocerebroside accumulation) | Krabbe's disease
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: beta-glucocerebroside (-->glucocerebroside accumulation) | Gaucher's disease
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: Hexosaminadase | Tay Sach's
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| Which lysosomal storage disease is characterized by the following enzyme deficiency?: Sphingomyelinase (-->sphingomyelin accumulation) | Niemann-Pick disease (no man picks his nose with his sphinger)
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| Lysosomal storage disease characterized by an accumulation of GM2 gangliosides. | Tay Sachs
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| Lysosomal storage diseases characterized by an accumulation of dermatin sulfate. | Hurler's, Hunter's, Scheie's (all the mucopolysaccharidoses)
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| Which lysosomal storage diseases are common among Ashkenazi Jews? | Tay Sachs, Niemann-Pick, some forms of Gaucher's
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| Which lysosomal storage disease has a characteristic "crinkled paper" cytoplasm? | Gaucher's
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| What is the differential for a cherry red spot on the macula? | Tay Sachs, Niemann-Pick (cherry picking), central retinal a occlusion
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| No mannose-6-P to target lysosomal proteins--> secretion of proteins out of cell instead of into lysosomes; death by age 8 | I cell disease
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| Corneal clouding, coarse facies, hepatosplenomegaly, skeletal abnormalities, restricted jaw movement, +/- MR. | I cell disease
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| Upon examination of a pedigree, you note that both males and females are affected with a disease in every generation. What type of genetic disease is this? | AD
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| Multiple fractures; easily confused with child abuse | Osteogenesis imperfecta (type I collagen defect)
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| Cafe-au-lait spots and soft tissue growths | Neurofibromatosis type 1
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| Macroorchidism and autism | Fragile X
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| Recurrent pulmonary infections and steatorrhea | CF
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| Endocardial cushion defects are common. Alzheimer's b/f 40yo. | Down syndrome
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| Excess fibro-fatty tissue deposit amongst muscle? | DMD
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| What test is used to diagnose cystic fibrosis (give exact cutoff)? What gene is mutated? | Sweat chloride test (>60mEq/L). CFTR gene is mutated.
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| Give the sample and probe: Southern blot | Sample: DNA
Probe: DNA
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| Give the sample and probe: Northern blot | Sample: RNA
Probe: DNA
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| Give the sample and probe: Western blot | Sample: Protein
Probe: Antibody
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| What does "knock out" mean in terms of gene expression modifications? | Removing a gene
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| What does "knock in" mean in terms of gene expression and modifications? | Inserting a gene
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| Neither of 2 alleles is dominant | Codominance
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| Nature and severity of phenotype vary from 1 individual to another | Variable expression
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| Not all individuals with a mutant genotype show the mutant phenotype | Incomplete penetrance
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| Differences in phenotype depend on whether mutation is paternal or maternal in origin | Imprinting
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| Severity of disease worsens or age of onset of disease is earlier in succeeding generations | Anticipation
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| Occurs when cells of body have different makeup | Mosaicism
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| Pedigree: 50% of children affected. Many generations, both male and female. | AD
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| Pedigree: disease is only in 1 generation, and no other generations are affected | AR
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| What is the one disease in which fluoroquinolones may be used in children, despite their well-known toxicities? | Cystic fibrosis; may need fluoroquinolones to kill Pseudomonas
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| In addition to fluoroquinolones, what other therapies should be administered to CF patients? | Pancreatic enzyme replacement and ADEK vitamin supplementation.
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| What are the X-linked immunodeficiencies? | Wiskott aldrich, Bruton's, Chronic granulomatous disease (WBC); hyper IgM may also be X-linked
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| What does the FMR1 gene code for? Where is it found? | FMRP cytoplasmic protein. Found in the brain and testes.
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| Where does the FMRP cytoplasmic protein operate? What f'n is it involved in? | Goes to the axons and dendrites where it is involved in mRNA translocation.
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| What is the MCC of mental retardation overall? | Fetal alcohol syndrome
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| What is the MCC of genetic mental retardation? What is the 2nd MCC of genetic mental retardation? | #1 is Down syndrome. #2 is Fragile X syndrome
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| In addition to the muscular dystrophies, what other muscular disorders have an elevated CPK level? | Polymyositis and myositis.
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| Does polymyalgia rheumatica have an increased CPK level? | No! It is a JOINT disorder (hence, "rheumatica", not a muscular disorder)
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| Why is Becker's MD less severe than Duchenne's MD? | Beckers is only a mutation of the dystrophin gene, whereas Duchenne's is a complete deletion of the dystrophin gene.
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| Patient complains of difficulty releasing his grip on doorknobs. He has cataracts, frontal balding, and gonadal atrophy on physical exam. What does he have? | Duchenne's Muscular dystrophy. Myotonia is abnormally slow relaxation of mm; classic symptoms are difficulty releasing one's grip after a handshake or letting go of a door.
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| Which supplementation in CF helps treat diarrhea and weight loss? | Pancreatic enzyme supplementation (diarrhea and weight loss are caused by malabsorption secondary to pancreatic insufficiency)
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| Neurofibromas are tumors of ____ cells and are derived from the ____. | Schwann; neural crest
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| Which autosomal trisomy may present with Meckel's diverticulum (malrotation of the gut)? | Edward's syndrome (Trisomy 18)
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| Which autosomal trisomy may present with omphalocoele and pyloric stenosis? | Patau's syndrome (Trisomy 13)
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| What genetic principle can result in differing severity of disease among patients in the same family with mitochondrial disease? | Heteroplasmy (the more severe the patient's presentation, the higher proportion of defective mitchondrial genomes they have in their cells)
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| MCC of death in Marfan's patients after infancy. | Aortic dissection (cystic medial degeneration of aorta predisposes)
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sarah3148
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