27 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... pathophysiology #peds #pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... infection (PIMS-TS) Clinical ... #coronavirus #diagnosis ... #Signs #Symptoms
Patellofemoral Syndrome - Pathogenesis and clinical findings
 • Anterior Knee Pain with possible symptoms of 'catching'
Patellofemoral Syndrome ... Pathogenesis and clinical ... patellofemoral joint with MRI ... pathophysiology #diagnosis ... #signs #symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... #diagnosis #signs ... #symptoms
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... MRI, iADL scale, ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... MNCD #Dementia #Differential
Posterior Ankle Impingement (Os Trigonum) Syndrome - MSK Radiology
Imaging Findings:
 • Os trigonum which has marrow
(Os Trigonum) Syndrome ... hallucis longus Differential ... flexion but no symptoms ... #clinical #mri ... #diagnosis #msk
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
conjunction with symptoms ... neuropathy (LHON) plus MRI ... lesions and clinical ... noninflammatory #differential ... #diagnosis
Restrictive Cardiomyopathy - Diagnosis and Causes
Clinical: Dyspnea, Exercise Intolerance, ↑ "Right Sided-Symptoms" (ascites, hepatomegaly, ↑↑peripheral edema)
Physical
and Causes Clinical ... ↑ "Right Sided-Symptoms ... Echocardiography, Cardiac MRI ... Hyper-eosinophilc Syndrome ... #Causes #differential
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... Signs and symptoms ... resonance imaging [MRI ... patients with clinically ... stimulation Clinical