26 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... Risk factor for Late ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
Pathogenesis and Clinical ... Note: Although rare ... excess secretion of hCG ... Signs/Symptoms: ... endocrinology #pathophysiology
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
Signs and symptoms ... Radiographic findings (eg ... Laboratory findings (eg ... VEP’s: EEG of visual ... stimulation Clinical
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... brainstem syndromes (e.g ... AQP4-lgG disease; e.g ... Manifestations #diagnosis #neurology ... #symptoms #signs
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... roughly double this rate ... /Symptoms/Findings ... bacterial infections (e.g ... Agammaglobulinemia #XLinked #pathophysiology
Peri-operative Hyperthermia - Guidelines for Crises in Anaesthesia
If prolonged or ≥ 39 C this is a
39 C this is a clinical ... Surgical devices, e.g ... Sepsis (→ 3-14) e.g ... malignant syndrome (e.g ... sign) (→ 3-8)
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Giant cell arteritis (GCA)

Giant cell arteritis (GCA) definition: Most common systemic inflammatory vasculitis in older adults
with systemic, neurologic ... Diagnosis = clinical ... not be subtle e.g ... (ESR or sed rate ... E.g. 80 yo ESR cutoff