RX Flash 253 Flashcards
- Only output cell of the cerebellum (inhibitory)
- Use gamma-aminobutyric acid (GABA)
- Cerebellar atrophy can result from depletion of B1 (thiamine)→ seen in beriberi and Wernicke-Korsakoff
Purkinje Cells
I-Cell Disease (AR)
- Results from failure to phosphorylate mannose residues onto mannose-6-phosphate at cis Golgi
- Deficiency in N-actylglucosamine phosphotransfersase
- Default exocytosis, rather than proper targeting to the lysosome
- Hemolytic anemia
- Leukopenia
- Arthralgia (without joint deformity)
- Skin rashes (malar or sun-exposed areas)
- Renal disease
- Libman-Sacks endocarditis
- Neurologic symptoms
- LAD (cervical, axillary and inguinal areas)
SLE symptoms
Anti-AChR antibodies
Myasthenia Gravis (worse near end of day or after exercise)
- Present with diploplia or ptosis
- 15% will have bulbar symptoms (dysarthria, dysphagia, and difficulty chewing)
- Distal limb weakness (most common)
Anti-Scl70 antibodies
- Diffuse systemic sclerosis or scleroderma (70%)
- Features include: fibrotic changes in organs (GI, Lungs, Kidneys, and Heart)
- Raynaud phenomenon (earliest symptom)
- Perioral and jaw tightness (without swelling)
What is the most common inherited primary immune deficiency?
IgA deficiency
What is the most common subtype of kidney disease in SLE patient?
- Diffuse proliferative glomerulonephritis (DPGN)
- Type III hypersensitivity reaction
- Immune complexes accumulate in the subendothelium and activate compliment
- Characteristic wire looping appearance on electron microscopy
Treatment for DPGN (seen in lupus)
- Cyclophosphamide (immunosuppressive agent)+ glucocorticoids (prednisone) for more severe lupus complications like DPGN
- Reduces titer of autoantibodies
Molar pregnancy Triad?
-Triad: Hyperemesis, vaginal bleeding, and hyperthyroidism
- Skin, bone, tendons, eyes, ears, and teeth
- High tensile strength
- Defective in Osteogenesis Imperfecta (AD)
Type I collagen
Hemolytic-uremic syndrome (HUS) triad
-Hemolytic anemia
-Thrombocytopenia
-Acute renal failure
Note: treating someone with E. Coli w/antibiotics is bad because increases HUS risk
Occurs when a cell takes up DNA from a donor cell
Transformation
Benign Prostatic Hyperplasia (BPH)
- Nodular enlargement of the periurethral lobes that compress the urethra
- Presents with increased urinary frequency, nocturia, and difficulty starting and stopping.
- Can develop AUR (acute urinary retention): presents w/ sudden inability to pass urine and lower abdominal/Suprapubic pain. A FOLEY CATHETER relieves the obstruction and alleviates symptoms
-Onset of visual, auditory and tactile hallucinations 12-24 hours after consumption of last alcoholic drink
Alcoholic hallucinosis
Delirium tremens (DTs)
- Begins 48-96 hours after the most recent drink
- Lasts 1-5 days
- Autonomic instability, hallucinations (visual or tactile), delirium, tachycardia, hypertension, fever, agitation or lethargy and diaphoresis
- 5-20% mortality due to cardiac arrhythmias
- Tx: Benzodiazepines, hydration and supportive car
- Increased aldosterone secretion
- Most common cause is an adrenal adenoma (w/lipid laden clear cells)
- Failure to suppress aldosterone with salt loading
Primary hyperaldosteronism (Conn Syndrome)
Drainage of adrenal glands:
Right= Right adrenal vein→ IVC Left= Left adrenal vein→ Left renal vein→ IVC Gonadal veins mirror this: Right gonadal vein→ IVC Left gonadal vein→ left renal vein→ IVC
Symptoms of Iodine deficiency include:
retardation and growth delay; bone age will appear less than patients actual age
- Separates molecules based on sizes
- Negatively charged DNA migrates in the electric field toward the positive end.
- Small particles move far and fast
Gel electrophoresis
-Labeled antibodies are used to detect whether the serum contains antibodies against a specific antigen precoated on ELISA plate
ELISA
-RNA is separated by electrophoresis
Northern blot
- Used to produce many copies of a segment of DNA
- Two specific primers, deoxynucleotides and a heat stable polymerase
- Solution is heated→DNA denatures→cooled→reannealing and synthesis
- 20 cycles amplifies DNA more than a million times
PCR
- Sound of alveoli opening and closing during respiration
- Occurs in pneumonia (fine) and congestive heart failure (wet)
- In addition to crackles, pneumonia (lobar) will have dullness to percussion (consolidation) and increased fremitus (consolidation)
Crackles
Decreased resonance to percussion, no breath sounds (over right lung usually) and decreased fremitus
Bronchial obstruction
Decreased fremitus and dullness to percussion
Pleural effusion
Hyperresonance to percussion and absent fremitus
Pneumothorax
- Deficiency in homogentisic acid oxidase→ results in accumulation of homogentisic acid
- Homogentisic acid is secreted in urine (turns urine black due to oxidation)
- Asymptomatic until mid adulthood
- Pigment and cartilage build up become visible and arthritic changes begin to manifest (often suffer from join pain)
- Brownish-gray deposits in the sclerae and ears
- Pigment also accumulates on heart valves and in kidney causing nephrolithiasis
- Not life threatening but severely disabling
Alkaptonuria (AR)
- Increase in urine and serum homocystine
- Most common cause is deficiencies in cystathionine synthase
- Mental retardation, optic lens dislocation, osteoporosis, and heart complications early in life
Homocystinuria (AR)
Nephrolithiasis and “staghorn” calculi
Cystinuria (AR)