NBME 30 Flashcards
_______ is very much like Kwashiorkor, but without the edema, skin lesions, or fatty liver. Look for it to present earlier in life than Kwashiorkor.
Marasmus
Pellagra is a deficiency of ____, which is characterized by Dementia, Diarrhea, and Dermatitis.
Niacin (Vit B3)
_______ is results from an Autosomal Dominant mutation in FGFR3, leading to impaired growth of long bones.
Achondroplasia
Porphyria Cutanea Tarda is caused by a deficiency of the enzyme ________ ________, an enzyme in the Heme production pathway –> leads to the buildup of _____, which are excitable by visible light and can lead to severe photosensitivity.
Uroporphyrinogen Decarboxylase
Uroporphyrinogen III
PKU, resulting from a deficiency in ______ ______, can present with a mousy odor of the skin and urine.
Phenylalanine Hydroxylase
Leuprolide is a ______ analog.
GnRH
_______ are the most common brain tumor in adults, and often arise inferiomedially to the frontal lobe.
Meningiomas
OCPs are contraindicated in women who are _____ years of age or older and who smoke more than ____ cigarettes per day.
35
15
_____-_____ disease refers to Osteochondrosis or traction apophysitis of the Tibial Tubercle –> typically occurs in adolescence from overuse.
Osgood-Schlatter
Iron-deficiency anemia presents with _______ (RBC morphology) on blood smear.
Microcytes
Note: Macrocytes would be seen in B12 deficiency
Waardenburg syndrome results from abnormal development of _____ _____ cells. Patients present with patchy areas of hypopigmentation, heterochromia of the irises, and potentially a white forelock of hair. It follows an Autosomal _____ mode of inheritance.
Neural Crest cells
Autosomal Dominant
Treatment of Hemochromatosis involves serial _______ and management of secondary disorders.
Look for patients to present with hyperpigmentation, diabetes mellitus secondary to liver failure, and dilated cardiomyopathy.
Serial Phlebotomy
Zellweger Syndrome results from a genetic mutation that leads to the absence of ______, which are responsible for metabolizing Very Long Chain Fatty Acids (VLFAs), ethanol, peroxide, and more.
Look for patients to present with seizures, intellectual disability, absence of reflexes, and liver failure.
Peroxisomes
Cleidocranial dysplasia is results from impaired differentiation of ______ because of an underlying mutation in the CBFA1 gene.
Osteoblasts
Maple Syrup Urine Disease is caused by a deficiency in the enzyme _____ ____ ____ ____ _____ complex. Treatment involves restriction of 3 amino acids:
- _____
- _____
- _____
Branched Chain Alpha Keto-Acid Dehydrogenase complex
- Valine
- Leucine
- Isoleucine
Galactosemia leads to failure to thrive, neurologic deficits, and ______.
Cataracts
A hallmark of _____ disorder is apprehension about when the next attack will occur.
Panic Disorder
Slate grey nevus (aka dermal melaocytosis) is characterized by a blue-grey patch on the _____ or _____ of a neonate of _____ descent.
Back
Buttocks
Asian
The rise in Estrogen during pregnancy increases the plasma concentration of circulating proteins, including _____ _____ _____.
Bonus: What effect would that have on T4 levels?
Thyroid Binding Globulin
Total T4 would increase, but free T4 would be normal (as would TSH)
Benzodiazepines (e.g. Diazepam) are positive ______ _______ of the ionotropic GABA-a receptor.
Allosteric Modulators
Major risk factors for Papillary Transitional Cell Carcinoma include Cigarette smoking, ____ dyes, and 2-_______.
Aniline dyes
2-Naphthylamine
EBV infect _____ lymphocytes through use of CD___. However, atypical cells on peripheral blood smear will typically be ____ lymphocytes.
B-lymphocytes
CD21
CD8+ T-Lymphocytes
Glutamate binds the ______ receptor in the CNS.
NMDA
______ ______ is an inflammatory condition of the spine that classically presents in younger males. The associated back pain is often relieved with Exercise.
Ankylosing Spondylitis
Vit __ deficiency can present with hemolytic anemia, generalized muscle weakness, and posterior column + spinocerebellar tract demyelination.
Vit E
Tacrolimus and Cyclosporine are ______ inhibitors (impairs T-lymphocyte activation) commonly used in Immunosuppression for patients who received solid organ transplants.
Calcineurin
Celiac disease presents with ______ atrophy, and thus, malabsorption.
Villous
Contact Dermatitis is a Type _____ hypersensitivity reaction. Look for patients to presents with weeping vesicles with surrounding erythema.
Type IV
Burkitt Lymphoma is a mature B-cell neoplasm associated with dysregulation of the _____ gene on Chromosome ___ (most commonly from a reciprocal t(__;__) translocation).
C-myc
8
t(8;14)
Malignant Melanoma is commonly associated with ______ mutations, especially _____-to-_____ ___ substitution at codon 600.
BRAF
Valine-to-Glutamic Acid (BRAF V600E)
_______ ______ refers to the sensitization of an Rh-negative mother during first pregnancy to Rh-positive fetus, with resulting hemolytic anemia in the fetus of a subsequent pregnancy with Rh-positive fetus.
Erythroblastosis Fetalis
Actinic Purpura refers to what?
Blood vessel fragility in the elderly (age-related dermal collagen atrophy) following sun exposure leading to bruising.
______ personality disorder (a cluster B disorder) is characterized by lack of empathy and results in pervasive violations of other’s rights, aggression, hostility, and a manipulative attitude toward others.
Antisocial Personality Disorder
Adenosine Deaminase (ADA), the enzyme that converts Adenosine to Inosine in the purine salvage pathway, deficiency is a primary cause of ______.
SCID
Pick Disease is also called ________ dementia and is characterized by atrophy of the frontal and temporal lobes, causing deficits in social behavior and personality changes. Avg age of onset is around 60.
Frontotemporal Dementia
Baclofen is a _____ relaxer that acts via activation of ______ receptors in muscle spindle afferents.
Muscle relaxer
GABA
_______ is to Succinylcholine as Acetylcholinesterase is to Acetylcholine.
Pseudocholinesterase
Beta-2 microglobulin can form insoluble fibrils in patients with ____-____ renal disease on _____. It has a tendency of depositing in the joints.
End-stage renal disease
Dialysis
Exposure to an oxidant stressor like an anesthetic, dapsone, or _____ (usually from fertilizers) can precipitate Methemoglobinemia. Iron in hemoglobin becomes _____ (oxidation state), leading to less oxygen binding/delivery to tissues.
How does blood appear in these patients?
Nitrates
Fe3+
Blood appears dark/brown
Insulin activates _______ in hepatocytes while Glucagon activates _______ ______.
Glucokinase
Phosphorylase Kinase
Leber Hereditary Optic Neuropathy results from a genetic mutation of Complex _____ in the ETC, responsible for oxidizing NADH, but not FADH2. The mutation has a _______ mode of inheritance.
Complex I
Mitochondrial
Rheumatoid Arthritis can be treated with _______, which inhibits TNF-alpha. If the disease persists, it is likely due to inflammation mediated by ______, which increases RANK ligand signaling and subsequent Osteoclast activation.
Adalimumab
IL-1
