NBME 15 Flashcards
Dullness to percussion, decreased breath sounds, decreased fremitus; tracheal deviation away from side of lesion if large enough
Pleural Effusion
Decreased breath sounds, dullness to percussion, decreased tactile fremitus; Tracheal deviation toward lesion
Atelectasis (bronchial obstruction)
Decreased breath sounds, hyper-resonant to percussion, decreased tactile fremitus
Simple Pneumothorax
Decreased breath sounds, hyper-resonant to percussion, decreased tactile remits, tracheal deviation away from side of lesion
tension pneumothorax
Bronchial breath sounds, late inspiratory crackles, egophony, whispered pectoriloquy, dullness to percussion, increased tactile remits
Consolidation
micrognathia (jaw is undersize), glossoptosis, cleft palate, airway obstruction
Pierre Robin Sequence 1st branchial Arch Abnormality (All the M’s: Maxillary process, zygomatic bone, Mandibular process, Meckel Cartilage, Manidible, malleus, incus, sphenomandibular ligament; Muscles of Masstication (temporals, master, lateral and medial pterygoid), anterior belly of the digastric, tensor tympani, anterior 2/3 of tongue, tensor veli palatini
Mandibular hypoplasia, facial abnormalities
Treacher Collins- Neural Crest Dysfunction that leads to 1st branchial arch derivative issues. M’s: Maxillary process, zygomatic bone, Mandibular process, Meckel Cartilage, Manidible, malleus, incus, sphenomandibular ligament; Muscles of Masstication (temporals, master, lateral and medial pterygoid), anterior belly of the digastric, tensor tympani, anterior 2/3 of tongue, tensor veli palatini
facial, palate, and cardiac defects
Velocardiofacial Syndrome: 22q11 deletion
Cleft palate, Abnormal facies, Thymic aplasia, Hypocalcemia
DiGeorge; 22q11 deletion; branchial pouch derivatives 3 and 4.
Failure of fusion of the maxillary and merged medial nasal prominences
cleft lip
Failure of fusion of the two lateral palatine shelves or failure of fusion of the two lateral palatine shelves with the nasal septum and/or median palatine shelf
Cleft Palate
autosomal Dominant, seizures, mitral regurg, mental retardation, angiofibromas, hamartomas of the CNS, angiolipomas, shagreen patches, ash leaf spots, bumps around the nose rhabdomyoma
Tuberous sclerosis
Tumor suppressor gene and function associated with Tuberous Sclerosis
TSC1 (Hamartin protein) on Chromosome 9 or TSC2 (tuberin protein) on Chromosome 16
telangectasias, blanching of skin and mucus membranes, recurrent epistaxis, AV malformations, GI bleeding and hematuria
Osler Weber Rendu Syndrome/ Hereditary Hemorrhagic telangiectasia- thin walled blood vessels
Fat with osseous and soft tissue tumors, congenital hypertrophy of retina pigment epithelium, impacted supernumerary teeth
Gardner Syndrome
FAP or lynch with CNS tumors like medulloblastoma or glioma
Turcot Syndrome
Numerous hamartomas of the GI tract along with a hyperpigented mouth, lips, hands, genitalia; associated with increased risk of GI cancers (Colorectal, stomach, small bowel, pancreatic)
Peutz- Jeghers Syndrome- Autosomal Dominant
Numerous hamartomatous polyps in children under the age of 5, in the colon, stomach and small bowel
Juvenile Polyposis Syndrome
What organ has the highest o2 extraction
heart
Aspirin OD is most likely to cause what changes to labs
Increased Bleeding time because its an anti-platelet
DNA mutation leading to elongation of trinucleotide repeats
Slipped strand mutation
Segment of DNA that can jump from one location into a target site; mechanism of anti-biotic resistance across species
Transposition.
Neural crest cell Derivatives
Parafollicular cells that secrete calcitonin, Adrenal Medulla (Chromafin cells), PNS neurons, Schwann cells, Pia mater, Arachnoid mater, endocardial cushions (Tetrology of fallout, transposition of the great vessels, Patent trunks arteriosus), Odontoblasts, bones of skull, melanocytes
RET mutation arises in what cells giving rise to what
Arises in neural crest cells and is related to pheochromocytoma and neuroblastoma; hirschsprung disease too
Congenital, non-inherited (sporadic), developmental anomaly of neural crest cell derivatives due to somatic mosaicism for an activating mutation in one copy of the GNAQ gene
Sturge Weber Syndrome
port-wine stain (nevus flames) on V1 and V2 distribution, ipsilateral leptomeningeal angioma causing seizures or epilepsy; intellectual disability and episcleral hemangioma causing increased interocular pressure leading to early onset glaucoma
Sturge Weber Syndrome; syndrome that affects small, capillary sized blood vessels.
Cafe- au last spots, cutaneous neurofibromas, optic gliomas, pheochromocytomas, litchi nodules (pigmented iris hamartomas)
NF 1 (TS gene)
Mutation associated with NF1
on chromosome 17; mutation in neurofibromin, a negative regulator of RAS
Bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
NF2
Mutation associated with NF2
NF2 ts gene on chromosome 22
hemangioblastomas in retina, brain stem, cerebellum, spine; angiomatosis (cavernous hemangioma in skin, mucosa, organs); bilateral renal cell carcinoma, pheochromocytomas
VHL
Mutation associated with VHL
Chromosome 3; Autosomal Dominant; pVHL ubiquitinates HIF-1a. HIF is only highly expressed under hypoxic conditions + cellular proliferation promoting cancer
Patient with the same genotype have varying phenotypes the variation must be expressed- Like patient A is less blue than patient B but has an identical genotype
Variable expressivity.
Not all patients with a mutant genotype SHOW the mutant phenotype; consider a disease that shows an autosomal dominant inheritance pattern, where the mother of the offspring has a history of disease on her side of the family, she doesn’t show the phenotype, but her offspring does
Incomplete penetrance.
One gene contributes to multiple phenotypic effects
pleiotropy
A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
Dominant negative mutation
Mutation that arises from mitotic errors after fertilization and propagates through multiple tissues
Somatic mosaicism
mutation only in effect or sperm cells; suspect if parents do not have disease
gremlin mosaicism
Example of a mutation a different loci that can produce a similar phenotype
Albinism- called locus heterogeneity
Different mutations in the same locus that produce the same phenotype
Beta thalassema- Allelic heterogeneity
Presence of normal and mutated mtDNA, resulting in variable expression in mito inherited disease
Heteroplasmy
Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other; HeterodIsomy indicates a miosis I error; Isodisomy (homozygous) indicates a meiosis II error.
Uniparental disomy
Prominent occiput, rocker-bottom feet, intellectual disability, nondisjunction, clenched fists, low set ears, micrognathia, congenital heart disease; death by age 1
Edwards Syndrome (T18)
Severe intellectual disability, rocker-bottom feet, micropthalmia, microcephaly, cleft lip/ palate, holoproscencephaly, polydactyly, cutis aplasia, congenital heart disease, PCKD, death by age 1
Patau Syndrome (T13)
Lipid soluble hormones
Thyroid hormone (acts like steroid), steroid hormones (androgens, mineralocorticoids, etc) fat soluble vitamins
Lesion that causes pie in the sky (left upper quandratopia)
lesion of Meyer’s Loop in the temporal Lobe
Lesion that causes pie on the floor left lower quadrantopia)
lesion in optic radiation- right parietal lobe `
increased PTH, low Ca2+, decreased serum PO4; hyperactivity of osteoblasts–> Increased ALP
Osteomalacia, rickets in children
IgM antibody that targets IgG Fc region
Rheumatoid Factor–> RA
Anti-citrullinated peptide antibody
RA
Anti-Beta2 glycoprotein
Anti-phospholipid Syndrome
Anticardiolipin
SLE
AntidsDNA, Anti-Smith
SLE
Anti-histone Antibody
Drug induced lupus
Anti-U1 RNP (ribonucleotide protein)
Mixed CT disease
Anti-Ro/SSA, Anti-La/SSb
Sjorgens
Anti-Scl70/ Anti-DNA Topoisomerase I
Scleroderma
Anticentromere
CREST syndrome
IgA anti-endomysial, IgA Anti-tissue transglutaminase, IgA and IgG Deaminated Gliadin Peptide
Celiac Disease
Anti-Phospholipase A2
Primary Membranous Nephropathy
PR3-ANCA/c-ANCA
Wegner’s Granulomatosis
Anti-desmoglein
Pemphgoid vulgaris
Anti-hemidesmosomes
Bullous Pemphigoid
most infectious agents in aspiration pneumonia associated with alcoholism
Bacteroides fragilis, peptostrep, fusobacterium
inclusion bodies in fibroblasts, coarse facial features, accumulation of proteins in the Lysosomes
I cell disease