16 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... > Neonatal and infantile ... #genetics #pathophysiology ... #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 #Symptoms ... Findings #Diagnosis #Peds ... #Pediatrics #Hepatology
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... postpartum): • Initial symptoms ... Maternal Support - Critical ... #Pregnancy #hepatology ... diagnosis #management #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
evaluation of the clinical ... /or suspicious clinical ... symptoms/signs ... presence of metabolic syndrome ... Abnormal #Algorithm #Hepatology
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
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
hyperbilirubinemia syndrome ... of hemolysis or liver ... as jaundice on clinical ... examination; nonspecific symptoms ... Congenital #bilirubin #hepatology
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
Hepatopulmonary Syndrome - Diagnosis and Management Summary
A defect in arterial oxygenation due to a gas exchange
Hepatopulmonary Syndrome ... shunt (Type 2) Clinical ... resolution of symptoms ... hepatopulmonary #syndrome ... management #treatment #hepatology
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... : (distinct symptoms ... ) • Löfgren syndrome