14 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... /Complications: ... delayed puberty -> Infertility ... #genetics #pathophysiology
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Syndrome ... Epidemiology: • 1-2 cases ... Pathophysiology ... #Barre #Syndrome ... management #treatment #neurology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
hypertension and signs ... renal bruit or signs ... Vasculitis • Endocrinologic ... Neurologic disorders ... dysautonomia, and Guillain-Barre
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... geriatrics #diagnosis #signs
Cauda Equina Syndrome
Causes:
 • Large lumbar degenerative disc herniation (central)
 • Severe lumbar spondylosis
 • Neoplasm
Cauda Equina Syndrome ... Causes: • Large ... lumbar spine Signs ... / Symptoms / Complications ... #MSK #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
• Other rare causes ... Carpal Tunnel Syndrome ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
involvement: Intractable nausea ... Other brainstem syndromes ... pain • Extra-CNS complications ... Manifestations #diagnosis #neurology ... #symptoms #signs
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
out of cells may cause ... Signs/Symptoms/Complications ... Abdominal pain, nausea ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
For pituitary masses ... Signs / Symptoms ... / Complications ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology