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Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
1 min
Warfarin Antidotes
Antidotes
Vitamin K
Fresh Frozen Plasma
59 secs
Benzodiazepine Antidote
Antidote
Flumazenil
40 secs
Kawasaki Disease
Pathophysiology
Prevalent in Asian Children
Necrotizing Vasculitis
Signs and Symptoms
Fever
Strawberry-Red Tongue and Mucosa
Lymphadenopathy
Desquamative Skin Rash
Erythema and Edema of the Hands and Feet
Conjunctivitis
Coronary Aneurysm
Treatment
Intravenous Immunoglobulin (IVIG)
Aspirin
2 mins
Fabry's Disease
Pathophysiology
X-linked Recessive
Alpha-galactosidase A Deficiency
Increased Ceramide trihexoside
Early Signs and Symptoms
Decreased Sweating (Hypohidrosis)
Angiokeratoma
Episodic Peripheral Neuropathy
Late Signs and Symptoms
Cardiovascular Disease
Renal Failure
1 min
Isoniazid
Indications
Tuberculosis (TB)
Mechanism of Action
Requires Catalase Peroxidase
Decreases Mycolic Acid Synthesis
Fast vs Slow Acetylators
Side Effects
B6 Deficiency
Neurotoxicity
Hepatotoxicity
Drug-induced Lupus
1 min
Haemophilus ducreyi
Characteristics
Gram-Negative
Coccobacillus
Pleomorphic
Parallel Short Chains
School of Fish Appearance on Gram Stain
Signs and Symptoms
Chancroid
Painful Genital Ulcer
Buboes
Treatment
Azithromycin
Ceftriaxone
2 mins
Bacteroides Fragilis
Characteristics
Gram-Negative
Anaerobe
Normal Colonic Flora
Produces Vitamin K
Produces Gas in Tissue
Foul-Smelling
Signs and Symptoms
Gastrointestinal Abscess
Treatment
Penicillin-Resistant
Clindamycin
Metronidazole
2 mins
Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
1 min
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
3 mins
P450 Inhibitors
Quinidine
Ciprofloxacin
Isoniazid
Grapefruit Juice
Acute Alcohol Use
Erythromycin (Macrolide)
Indinavir
Cimetidine
Sulfonamides
Ketoconazole
Amiodarone
2 mins
P450 Inducer
Griseofulvin
Phenytoin
Carbamazepine
Rifampin
Barbiturates
Chronic Alcohol Use
St. John's Wort
51 secs
Microscopic Polyangiitis
Pathophysiology
Necrotizing Small Vessel Vasculitis
Signs and Symptoms
Lungs, Kidneys, and Skin Commonly Affected
Palpable Purpura
Rapidly Progressive Cresentic Glomerulonephritis
Diagnosis
Lesions are Same Age
Non-granulomatous
Minimal Nasopharyngeal Involvement
P-ANCA
Treatment
Corticosteroids
Cyclophosphamide
2 mins
Temporal Arteritis
Giant Cell Arteritis
Granulomatous
Old Females
Clinical Features
Polymyalgia Rheumatica
Unilateral Headache
Jaw Claudication
Blindness
Lab Findings
Increased ESR
Normal Serum Creatine Kinase
Treatment
Steroids
2 mins
Vitamin E Deficiency
Mechanism
Antioxidant
Protects Erythrocytes
Protects from Free Radical Damage
Deficiency Signs and Symptoms
Hemolytic Anemia
Posterior Column
Spinocerebellar Tract
2 mins
Craniopharyngioma
Hypopituitarism
Remnants of Rathke's Pouch
Tooth-enamel Like Calcification
Cholesterol Crystals
Yellow Viscous Fluid
Headache
Bitemporal Hemianopsia
1 min
Actinomyces Israelii
Characteristics
Gram-Positive
Bacillus
Anaerobe
Branching
Oral Flora
Dental Work
Oral Trauma
Associated with IUDs
Signs and Symptoms
GU Infections
Draining Sinus Tract
Facial Abscess
Yellow Sulfur Granules
Treatment
Penicillin
2 mins
Hemangioblastoma
Most Often Cerebellar
Associated with Von Hippel-Lindau
Retinal Angiomas
Can Produce EPO
Secondary Polycythemia
Foamy Cells
High Vascularity
59 secs
Ependymoma
Occur in Children
Fourth Ventricle
Hydrocephalus
Perivascular Pseudorosettes
Rod Shaped Blepharoplasts
Cauda Equina in Adults
Poor Prognosis
Neurofibromatosis Type II
2 mins
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