13 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... > Neonatal and infantile ... #pathophysiology ... #peds #pediatrics
Primary Biliary Cirrhosis (PBC) - Summary

PBC Epidemiology:
 • Female:Male 9:1
 • Common European descent
 • Age:
65 years PBC Pathophysiology ... cholestasis → Cirrhosis/Liver ... failure PBC Signs ... and Symptoms: ... or higher • Liver
Complications of Measles: Pathogenesis and Clinical Findings
 • ADEM -> Fever, headache, neck stiffness, BBD, mental
Pathogenesis and Clinical ... N/V, elevated liver ... Complications #diagnosis ... #signs #symptoms ... #pathophysiology
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
asymptomatic at diagnosis ... - Genetic and environmental ... Care focuses on symptom ... remain subject to clinical ... #diagnosis #management
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... : HLH signs and ... symptoms can mimic ... Diagnosis via genetic ... lymph node, or liver
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
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... #LiverFailure #Signs ... #Findings #Diagnosis ... #Peds #Pediatrics
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... 40% of patients diagnosed ... Genetic Predisposition ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology