A condition characterized by white patches or plaques that develop on the mucous membranes of the mouth. These patches are typically thickened and cannot be scraped off
Leukoplakia
What vitamins function as antioxidants?
Vitamins A, C and E
Pompe disease is also known as ___.
Glycogen storage disease type II
Orientation describes a patient's ability to know ____ (hint: 3 things)
Person, place, and time
Harmless bony growths in the mouth that are usually covered by gum tissue
Tori
Which complication results from severe, prolonged vitamin B1 deficiency?
Wernicke-Korsakoff Syndrome
A 2-year-old boy is brought to the pediatrician for developmental delay and frequent bruising. His parents report that he has coarse facial features, hepatosplenomegaly, and skeletal deformities. Enzyme assay reveals a deficiency in α-L-iduronidase. Which of the following is the most likely diagnosis?
A. Gaucher disease
B. Hurler syndrome
C. Niemann-Pick disease
D. Fabry disease
E. Hunter syndrome
B. Hurler syndrome is caused by a deficiency in α-L-iduronidase, leading to an accumulation of heparan sulfate and dermatan sulfate. Symptoms include coarse facial features, developmental delay, hepatosplenomegaly, and skeletal deformities.
Diagnosis of a manic episode requires an elevated and/or irritable mood for ___ (time interval) plus at least three DIGFAST criteria
At least 1 week
A 50-year-old man presents with a painful sore on the lateral border of his tongue that has been present for 2 weeks. He has a 30-pack-year smoking history and consumes alcohol daily. Examination reveals a 1.5 cm ulcer with indurated edges and a rough base. A biopsy confirms squamous cell carcinoma.
Which of the following is the most likely risk factor for this patient’s condition?
A. Epstein-Barr virus infection
B. Human papillomavirus (HPV) infection
C. Tobacco use
D. Chronic corticosteroid use
E. Candidiasis
C. Tobacco use
Smoking is a major risk factor for oral squamous cell carcinoma, especially when combined with alcohol use.
What is Vitamin C's role in collagen synthesis?
Hydroxylation of proline and lysine
A 5-year-old Ashkenazi Jewish girl presents with progressive motor weakness, hypotonia, and loss of milestones. On examination, she has a "cherry-red" spot on the macula and no hepatosplenomegaly. Enzyme assay confirms a deficiency in hexosaminidase A. What is the most likely diagnosis?
A. Gaucher disease
B. Tay-Sachs disease
C. Niemann-Pick disease
D. Fabry disease
E. Krabbe disease
B. Tay-Sachs disease is due to a deficiency in hexosaminidase A, causing an accumulation of GM2 ganglioside. Patients present with progressive neurodegeneration, hypotonia, a "cherry-red" macula, and no hepatosplenomegaly (key feature distinguishing it from Niemann-Pick disease).
A 22-year-old woman presents with a 6-month history of excessive anxiety about multiple aspects of her life, including her academic performance, finances, and relationships. She reports difficulty concentrating, muscle tension, and fatigue. She denies panic attacks, depressive symptoms, or hallucinations. What is the most likely diagnosis?
A. Panic disorder
B. Generalized anxiety disorder
C. Adjustment disorder
D. Obsessive-compulsive disorder
E. Social anxiety disorder
B. Generalized anxiety disorder. Generalized anxiety disorder is characterized by excessive worry about multiple areas of life for ≥6 months, accompanied by symptoms like fatigue, muscle tension, and difficulty concentrating. Panic attacks are not required for this diagnosis.
What type of patients get oral candidiasis and hairy leukoplakia?
Immunocompromised individuals (HIV+ patients, organ transplant recipients)
What cellular change results from Vitamin E deficiency?
Acanthocytosis
A newborn with irritability, poor feeding, and opisthotonic posture is found to have peripheral neuropathy and optic atrophy. Histopathology reveals globoid cells. Which of the following enzyme deficiencies is responsible for these findings?
A. Arylsulfatase A
B. β-glucocerebrosidase
C. Hexosaminidase A
D. Galactocerebrosidase
E. Sphingomyelinase
D. Galactocerebrosidase. The described findings, including peripheral neuropathy, optic atrophy, irritability, and globoid cells, are characteristic of Krabbe disease, which is caused by a deficiency in galactocerebrosidase, leading to the accumulation of galactocerebroside.
A 35-year-old man with no significant medical history is brought to the emergency department for disorganized behavior, auditory hallucinations, and flat affect. These symptoms have persisted for the past 8 months. What is the most likely diagnosis?
A. Brief psychotic disorder
B. Schizoaffective disorder
C. Schizophrenia
D. Schizophreniform disorder
E. Delusional disorder
C. Schizophrenia. Schizophrenia requires ≥6 months of symptoms, including ≥1 month of active-phase symptoms (delusions, hallucinations, disorganized speech). This patient’s 8-month history meets these criteria. Schizophreniform disorder is similar but lasts 1-6 months.
Which ganglia does HSV-1 virus that causes oral herpes remain dormant?
Trigeminal Ganglia
What parasite is associated with vitamin B12 deficiency?
Diphyllobothrium latum
A 10-year-old boy presents with episodes of burning pain in his hands and feet, as well as angiokeratomas on his abdomen. Laboratory studies reveal an elevated serum globotriaosylceramide (Gb3). His symptoms are due to a deficiency in:
A. Glucocerebrosidase
B. Galactocerebrosidase
C. α-galactosidase A
D. Sphingomyelinase
E. Hexosaminidase A
C. α-galactosidase A. The patient's symptoms of burning pain, angiokeratomas, and elevated globotriaosylceramide (Gb3) are consistent with Fabry disease, which is caused by a deficiency in α-galactosidase A. Fabry disease is an X-linked recessive lysosomal storage disorder.
A 50-year-old man visits his primary care physician for follow-up. He reports that for the past 2 years, he has felt "low-energy" and frequently "down." However, he denies having suicidal thoughts, feelings of worthlessness, or any major changes in his sleep or appetite. He has been able to continue working but feels less productive. What is the most likely diagnosis?
A. Major depressive disorder
B. Bipolar disorder, type II
C. Dysthymia (persistent depressive disorder)
D. Cyclothymic disorder
E. Adjustment disorder with depressed mood
C. Dysthymia (persistent depressive disorder). Dysthymia involves chronic, low-level depressive symptoms lasting ≥2 years without meeting criteria for major depressive disorder. This patient’s prolonged symptoms and functional impairment are consistent with this diagnosis.