AMBOSS Flashcards
A type of glycogen storage disease caused by lysosomal acid maltase deficiency. Presents with myopathy, hypertrophic cardiomyopathy, macroglossia, and, in infants, a failure to thrive.
Pompe disease
An autosomal recessive disease caused by a deficiency in β-glucocerebrosidase that leads to intracellular accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow. Causes hepatosplenomegaly, neurodegeneration, osteoporosis, and aseptic necrosis of the femur. The most common lysosomal lipid storage disease.
Gaucher’s disease
A type of glycogen storage disorder caused by the deficiency of glucose 6-phosphatase (type a disease) or glucose 6-phosphate translocase (type b disease). Patients typically present in the neonatal period with massive hepatomegaly and a protuberant abdomen, puffy cheeks, and a rounded face, and biochemical abnormalities such as severe hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia.
von Gierke disease, Glucose-6-phosphatase deficiency
Fever, facial edema, a diffuse morbilliform rash, lymphadenopathy, and hepatomegaly within some weeks after initiating treatment with an anticonvulsant agent are suggestive of ________
DRESS syndrome
DRESS syndrome will show increased ___ count
eosinophil
6-year-old boy presents with acute cyclical abdominal pain, with his knees drawn to the chest, nonbilious vomiting, and a target sign on ultrasound (transverse bowel rings), which is a constellation of symptoms most consistent with _________. The recurrence of the episode and the presence of anemia are suggestive of a particular pathologic lead point such as
intussusception
meckels diverticulum
The _____ test is used to identify if a relationship between two categorical variables is statistically significant, i.e., whether the observations differ significantly from what would be expected by chance.
Chi square
The __________ describes the strength and polarity of a linear relationship between two continuous variables (e.g., to assess the relationship between the dose of an anti-epileptic and its peak serum concentration).
Pearson correlation coefficient
The ________is a parametric test that is used to identify if there is a statistically significant difference among the means of ≥ 3 continuous variables (e.g., identifying if there is a relationship between blood pressure, serum glucose levels, and BMI).
analysis of variance test (ANOVA)
cells in adneocarcinoma
gland forming columnar cells
hypolri histology
Neutrophilic infiltration with pit abscesses is seen in H. pylori-positive gastritis
________ is one of the most common causes of stress incontinence and is caused by impaired support from the pelvic floor
Urethral hypermobility
_________ is a hereditary defect of proximal convoluted tubule and small intestine amino acid transport proteins. These defects prevent proper reabsorption of ornithine, cystine, lysine, and arginine in the small intestine and the kidneys. This leads to the precipitation of hexagonal-shaped cystine stones in urine and a positive urine sodium cyanide nitroprusside test.
Autosomal recessive cystinuria
Dysphagia and heartburn refractory to proton pump inhibitors in an individual with a history of atopy are indicative of _________
eosinophilic esophagitis (EoE).
A diagnosis of ——–is supported by the findings on endoscopy (trachealization of the esophagus, longitudinal furrows, friable mucosa). Individuals with ——- may also present with food impaction, reflux, and vomiting. An endoscopic esophageal biopsy will typically show an eosinophilic infiltrate.
EoE
fever, sore throat, enlarged tonsils with exudates, palatal petechiae, cervical lymphadenopathy, and lack of cough suggest a diagnosis of bacterial tonsillopharyngitis. The most common cause is group A streptococcus (GAS). The virulence factor ——–responsible for inhibition of phagocytosis in fresh blood is also directly involved in the pathogenesis of acute rheumatic fever.
M protein
Blocking of __________receptors, therefore, leads to an increase in urinary sodium excretion, decreased peripheral vascular resistance, and lower levels of aldosterone. The combination of these effects lowers blood pressure. To compensate for decreased sodium and water reabsorption, the juxtaglomerular apparatus will release more renin, which will subsequently increase the levels of both angiotensin I and angiotensin II.
angiotensin II
________, a hereditary condition that causes myoclonus, ataxia, weakness, and generalized epilepsy. Muscle fibers with red inclusions that disrupt the normal fiber contour result in the characteristic ragged appearance seen on histopathologic examination.
myoclonic epilepsy with ragged red fibers
Defective ___________ occurs in patients with myoclonic epilepsy with ragged red fibers (MERRF) due to point mutations in mitochondrial DNA that result in dysfunction of proteins in the electron transport chain.
oxidative phosphorylation
The____________artery originates from the thyrocervical trunk, a branch of the subclavian artery. It supplies the cervical portion of the esophagus.
risk of being cut with a mass that is “distal to the UES”
inferior thyroid artery
Symptoms (dry cough, followed by diarrhea and abdominal pain), laboratory findings (eosinophilia), and history of recent travel to an endemic region (Indonesia) are concerning for a nematode infection. Stool sample shows a fertilized egg with a knobby appearance, confirm the diagnosis of _________infection.
Ascaris lumbricoides
Treatment for Ascaris lumbricoides
albendazole or mebendazole
The development of malignancies in Li-Fraumeni syndrome occurs due to loss of
heterozygosity in the p53 tumor suppressor gene
A syndrome caused by an autosomal dominant inherited mutation of the tumor suppressor gene TP53. Characterized by multiple malignancies (sarcoma, breast carcinoma, leukemia, adrenocortical carcinoma) that occur at an early age.
Li fraumeni syndrome
Cuboidal cells arranged spherically around colloid is a characteristic feature of ___________
thyroid follicles and follicular cells
PAX8-PPAR gamma gene rearrangement is involved in the pathogenesis of __________
follicular thyroid adenoma and follicular thyroid cancer
Activation mutation in the _______is associated with papillary thyroid cancer, the most common type of thyroid cancer.
BRAF gene
Histologically, ______ cancers are characterized by calcified spherules (psammoma bodies), large oval cells with empty-appearing nuclei (“Orphan Annie” eye nuclei), and nuclear grooves.
papillary
_________ are cell-to-cell channels that allow a rapid exchange of ions, nutrients, and other molecules. Are composed of two connexons that connect adjacent cells and create an intercellular network that spans osteocytes, osteoclasts, osteoblasts, and other progenitor cells that reside in bone.
Macula communicans, also known as gap junctions,
________ are strong structures that exist in the paracellular space between epithelial and endothelial cells. These structures lie just more basal than tight junctions (i.e., closer to the basement membrane). They primarily function to anchor intracellular actin microfilaments to the cellular membrane.
Zonula adherens, also known as adherens junctions
_________ are multiprotein structures that connect epithelial basal cells to the basement membrane (basal lamina).
Hemidesmosomes
________ are extracellular proteins that seal the paracellular space and prevent passive paracellular movement of molecules. Comprised of claudin and occludin proteins, these structures are prominent in the epithelial layer of the gut.
Zonula occludens (also known as tight junctions)
Typical renal biopsy findings of PSGN include
granular deposits of IgG, IgM, and C3 along the glomerular basement membrane
And mesangium on immunofluorescence (“lumpy-bumpy” or “starry sky” appearance), enlarged and hypercellular glomeruli on light microscopy, and subepithelial immune complex deposits (“humps”) on electron microscopy.
A syndrome characterized by glomerular damage, leading to hematuria, pyuria, water retention, and subsequent hypertension and edema.
Nephritic syndrome
A combination of symptoms seen in various renal diseases that are associated with dysfunction of the renal filtration system. Characterized by massive renal loss of protein (> 3.5 g/day) resulting in edema and hypoalbuminemia, hyperlipidemia, hypercoagulability (antithrombin III deficiency), and an increased risk of infection (loss of immunoglobulins)
Nephrotic syndrome
A genetic disorder characterized by glomerulonephritis, often in combination with sensorineural hearing loss and, in some cases, eye abnormalities. Caused by a genetic defect of type IV collagen. Most commonly inherited in an X-linked dominant pattern.
Alport syndrome
Achondroplasia is an autosomal dominant disorder with ________penetrance, meaning that all individuals who carry the altered genotype (i.e., a gain-of-function mutation in the fibroblast growth factor receptor 3 gene) will have the disease.
complete
short stature, distinctive craniofacial features (midface retrusion, prominent forehead, nose flattening), and disproportionate extremity length indicate ————-
achondroplasia
A biopsy showing spindle-shaped cells, leukocyte infiltration, and angiogenesis is consistent with _______, for which HIV is a risk factor. Cutaneous findings of Kaposi sarcoma include darkly pigmented plaques and nodules that may ulcerate.
Kaposi sarcoma
A biopsy showing epidermal hyperplasia with lymphocytic infiltrates can be seen in ________, a skin lesion characteristic of secondary syphilis. Macroscopically, these lesions appear as broad-based, wart-like papular erosions.
condylomata lata
_____ are granulomatous skin lesions characteristic of tertiary syphilis. A biopsy of a ______would most likely show a central area of necrosis (due to obliterating endarteritis, which causes ischemia of the lesion’s center) surrounded by an inflammatory cellular infiltrate (due to a type 4 hypersensitivity reaction to Treponemal spirochetes).
Gummas
_________are classically associated with neurofibromatosis type 1. Patients with NF1 are also at increased risk for optic gliomas, especially as children.
Pheochromocytomas
Vestibular schwannomas, especially bilaterally, are classically associated with ______. ______ typically presents with complications of schwannomas (e.g., hearing loss or balance problems) and may cause other CNS tumors (e.g., meningioma). Hyperpigmented iris nodules and cognitive impairment, are not associated with it.
neurofibromatosis type 2
An autosomal-dominant neurocutaneous syndrome that is caused by mutation of the TSC1 or TSC2 gene, which encode for hamartin or tuberin protein (both tumor suppressors), respectively. Typically presents with intellectual disability, seizures, and skin manifestations such as adenoma sebaceum, ash-leaf spots, Shagreen patch, and small benign tumors (e.g., brain hamartomas, cardiac rhabdomyomas, and renal angiomyolipomas).
Tuberous sclerosis
Patients with severe neutropenia are at increased risk of developing pyogenic and/or enteric bacterial infections such as
Enterococcus faecalis
is an enteric gram-positive organism that is part of the normal GI flora and can cause serious nosocomial urinary tract and biliary tract infections, bacteremia, and infective endocarditis in neutropenic patients.
The patient’s hypertension, hypokalemia (leading to fatigue, muscle weakness, headaches, paresthesias, and palpitations), and metabolic alkalosis are likely caused by
primary hyperaldosteronism (Conn syndrome)
Bupiron, inhibits the reuptake of norepinephrine and dopamine, is an atypical antidepressant without sexual side effects and therefore a viable alternative for patients with ____, who experience sexual dysfunction due to SSRIs.
MDD
gram neg anerobe, reistnat to bile and aminoglyciside
in foot ulcer of diabetic
Bacteroides fragilis
A rod-shaped, gram-negative, beta-lactamase-producing obligately anaerobe. Normally grows in the colon but can be found in infections throughout the body in patients with bowel trauma.
Acute ______ infarction, which manifests with ST elevations in the lateral (I, aVL) and lateral anterior precordial leads (V5, V6), is most often caused by occlusion of the left circumflex coronary artery (LCX).
lateral wall
The _____supplies the lateral and posterior walls of the left ventricle as well as the anterolateral papillary muscle. In percutaneous coronary intervention, the catheter will need to pass through the aortic sinus and the left coronary artery before entering the ___
left circumflex artery
The ————– artery, which arises from the left coronary artery, supplies the anterior surface of the left ventricle, the anterolateral papillary muscle, and the anterior ⅔ of the ventricular septum. Occlusion of this artery causes anterior wall myocardial infarction, leading to ST elevations in leads I, aVL, and anterior wall leads V1–V6
left anterior descending
