21 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Upper endoscopy revealed a pigmented mass in the duodenal bulb (Panel A) and two additional masses
duodenum (Panel B) #Clinical ... #GI #Derm #Honc ... Melanoma #Duodenum #EGD ... #Metastatic #NEJM
Immunosuppressive Strategies for the Prevention or Treatment of Acute GVHD. Panel A shows several classic immunosuppressive
are in routine clinical ... been tested in clinical ... #Pathophysiology ... #IM #Honc #Pharm ... Immunosuppression #NEJM
Gastric Cancer in Chest Radiograph - A plain radiograph of the chest showed a round, irregular
#Clinical #Radiology ... #GI #Honc #CXR ... #EGD #GastricCancer ... #NEJM
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... galactose-deficient IgA1 (GD-IgA1 ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Aortoenteric Fistula - Diagnosis and Management Summary
Epidemiology:
• Uncommon but life-threatening
• Most common site of bowel connection
the duodenum Clinical ... Pathophysiology: ... bleeding may undergo EGD ... Sensitivity of EGD ... - If negative, EGD
T-LGL leukemia - T-CeIl Large Granular Lymphocytic Leukemia
Clinical
 - Persistent (>6mo) lymphocytosis (2-20k) with proven clonality
Lymphocytic Leukemia Clinical ... TCR-AB, rarely GD ... ALK, TFH, CD25 Genetics ... Same morphologic/clinical ... hemepath #pathology #diagnosis
The 6 C’s of Primary Sclerosing Cholangitis (PSC)
PSC is a chronic, cholestatic, immune-mediated disease characterized by
progression to end-stage ... asymptomatic at diagnosis ... CHOLANGITIS - Genetic ... remain subject to clinical ... #Cholangitis #diagnosis
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Acromegaly - Diagnosis ... GrepMed Handbook Clinical ... malignancy Pathophysiology ... phenytoin, minoxidil), genetic ... Endocrinology #Treatment #Pathophysiology