25 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... • Other rare causes ... Overproduction #diagnosis #signs ... #symptoms #endocrinology ... #pathophysiology
Causes of Secondary Hypertension - Workup and Differential Diagnosis
Approach (when evaluation should be done):
1. Severe or
hypertension and signs ... 109 mm Hg) with clinical ... renal bruit or signs ... Vasculitis • Endocrinologic ... #Differential #
Chronic Hypertensive Retinopathy: Pathogenesis and clinical findings

Ophthalmic Artery Hypertension
Stage 1: Mild/vasoconstrictive
 • Acute and chronic vasospasm
Pathogenesis and clinical ... Hypertension Stage ... #Retinopathy #pathophysiology ... ophthalmology #diagnosis #signs ... #symptoms #complications
Diabetic Ketoacidosis (DKA) - Pathogenesis and Clinical Findings
 • Note: in DKA, body K+ is lost
Pathogenesis and Clinical ... out of cells may cause ... Signs/Symptoms/Complications ... DiabeticKetoacidosis #DKA #pathophysiology ... #endocrinology
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Pathogenesis and Clinical ... For pituitary masses ... Signs / Symptoms ... #SideEffects #endocrinology ... mnemonic #GLFTAP #pathophysiology
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... MRI, iADL scale, ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... Genetic Predisposition ... to produce all classes ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
Summary of clinical findings for patients with encephalitis, by cause

#Encephalitis #Signs #Symptoms #Table #Diagnosis #Differential #CSF
Summary of clinical ... encephalitis, by cause ... #Encephalitis #Signs ... #Symptoms #Table ... #Diagnosis #Differential