23 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... Tetralogy #Fallot #diagnosis ... cardiology #peds #pediatrics ... #treatment
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 ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... WBC >100k, + lab signs ... : • Pathophysiology ... #TLS #diagnosis ... #management #hematology
Autoimmune Myositis
Necrotizing myopathy is associated with higher CK levels, greater level of muscle weakness, less systemic
heliotrope rash, Shaw sign ... , holster sign, ... anti-synthetase syndrome ... after 2 years of treatment ... #rheumatology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... frequently affects infants ... : HLH signs and ... • Bicytopenia Treatment ... #hematology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Demyelinating Syndrome ... Disease, PRES Pathophysiology ... permeability Diagnosis ... CNS #neurology #rheumatology ... #cerebritis #diagnosis
Peri-operative Hyperthermia - Guidelines for Crises in Anaesthesia
If prolonged or ≥ 39 C this is a
Treatment depends ... devices, especially infants ... hyperthermia crisis (late sign ... • Serotonin syndrome ... Anesthesia #Checklist #Diagnosis
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... Triggers: ATRA treatment ... Pathophysiology ... Renal Failure Treatment ... #management #hematology