11 results
diagnosis hematology treatment hemophagocytic hlh lymphohistiocytosis ophthalmology 21hydroxylasedeficiency 21ohd anemia aplastic barre cardiology encephalopathy endocrinology eyelid fallot fes floppy gbs
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... Infertility • Decr Bone ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... #cardiology #peds ... #pediatrics #treatment
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
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
may precede the neurologic ... Etiology: • Pathophysiology ... Neurological symptoms ... #diagnosis #management ... #neurology
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... Ehlers-Danlos syndrome ... Keratoconus Signs / Symptoms ... #Keratoconus #pathophysiology
Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia
Constitutional Syndromes ... Aplastic Anemia Clinical ... : - Genetic lesions ... • Improve the symptoms ... hematology #diagnosis #management
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... an underlying genetic ... HLH signs and symptoms ... Lymphohistiocytosis #diagnosis #management
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
Guillain-Barré Syndrome ... after symptom onset ... the underlying pathophysiology ... #diagnosis #management ... #neurology
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary Epidemiology: • Prevalence: 1-2 cases per million -
Diagnosis and Management ... Pathophysiology ... autoimmune response gone ... Clinical Manifestations ... #treatment #neurology
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
Familial) HLH: - Genetic ... Clinical Presentation ... Common Signs and Symptoms ... Pathophysiology ... Hemophagocytosis in bone
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