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
