8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Selective Serotonin Reuptake Inhibitors: Mechanisms and Side Effects
 • Serotonin Syndrome:
   - Autonomic Hyperactivity:
Mechanisms and Side Effects ... Serotonin #Inhibitors #Pathophysiology ... #Pharmacology #SideEffects ... Psychiatry #Diagnosis #Signs ... #Symptoms
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
febrile vasculitic syndrome ... Affects children ... Disease #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Serotonin-Norepinephrine Reuptake Inhibitors(SNRIs): Mechanisms and Side Effects

Withdrawal: Dizziness, Diarrhea, Insomnia, Nausea, Vomiting
Serotonin Syndrome - Potentially Life
Vomiting Serotonin Syndrome ... SerotoninNorepinephrine #Inhibitors #Pathophysiology ... #Pharmacology #SideEffects ... Psychiatry #Diagnosis #Signs ... #Symptoms
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... 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 syndrome ... most frequently affects ... infants < 3 months ... Diagnosis: HLH signs ... and symptoms can
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Onset: Usually in infancy ... Presentation • Common Signs ... and Symptoms: ... Pathophysiology