10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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 ... an underlying genetic ... Diagnosis: HLH signs ... agent are the main ... #hematology
Emphysematous Cystitis
Epidemiology:
 • Usually middle-aged diabetic women
 • Other RF: neurogenic bladder, urinary tract outlet obstruction,
immune compromise Clinical ... Signs/Symptoms: ... be present or signs ... Pathophysiology: ... data • Early treatment
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
if they have no clinical ... 15,000/mm3, and urine ... echo is positive, treatment ... and lab signs ( ... #Diagnosis #Peds
Hepatorenal Syndrome (HRS)

Definition:
• Functional, potentially reversible kidney impairment.
• Occurs in advanced liver disease: cirrhosis, severe alcoholic
Pathophysiology: ... Diagnosis (Clinical ... • Bland urine ... Treatment Overview ... Hepatorenal #Syndrome #Hepatology
A quick infographic on the importance of sun protection and the various results of sun damage
causes #diagnosis #dermatology ... non-melanoma skin cancer: clinical ... Genetic determinants ... Mechanisms and treatments ... Grether-Beck S, Marini
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Males=Females SIGNS ... DIAGNOSTICS: Clinical ... identified (autoimmune, meds ... , neoplastic) TREATMENT
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Clinical Presentation ... • Common Signs ... Pathophysiology ... Diagnosis #Management #Hematology
Hepatopulmonary Syndrome - Illness Script
HPS is a pulmonary disorder of chronic liver disease characterized by a
abnormalities PATHOPHYSIOLOGY ... of orthodeoxia CLINICAL ... with agitated saline ... the left heart TREATMENT ... only definitive treatment