17 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 ... enzyme 21-OHase causes ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Upper endoscopy revealed a pigmented mass in the duodenal bulb (Panel A) and two additional masses
two additional masses ... duodenum (Panel B) #Clinical ... #GI #Derm #Honc ... Melanoma #Duodenum #EGD ... #Metastatic #NEJM
Hemolysis in Hereditary Spherocytosis. Panel A shows the structure of a normal red cell and a
deficiencies that cause ... #Pathophysiology ... #Honc #IM #Spherocytosis ... HereditarySpherocytosis #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
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... galactose-deficient IgA1 (GD-IgA1 ... periumbilical region), nausea ... HenochScholeinPurpura #Pathophysiology
Gastric Cancer in Chest Radiograph - A plain radiograph of the chest showed a round, irregular
#Clinical #Radiology ... #GI #Honc #CXR ... #EGD #GastricCancer ... #NEJM
Pisa Syndrome (pleurothotonus) on Physical Exam
A tonic flexion of the trunk of the body to one
Caused commonly ... neurodegenerative disorders (eg ... Pathophysiology: ... #PhysicalExam #clinical
Disseminated Intravascular Coagulation (DIC) Overview

Increased Clotting and Consumption of Clotting Factors

Findings:
 • Bleeding
 • Recent history
protein C and S Pathophysiology ... Fibrinolysis → End ... organ damage Clinical ... Treat primary cause ... Coagulation #diagnosis #causes
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... Genetic Predisposition ... to produce all classes ... Agammaglobulinemia #XLinked #pathophysiology