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neurology treatment cardiology hematology abnormal anemia aplastic atlas beaus cardiomyopathy diseases elbow encephalopathy evaluation examination fallot fingernails fracture gravis growthplate
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... delayed puberty -> Infertility ... • Decr Bone mineral ... #genetics #pathophysiology ... #peds #pediatrics
Tetralogy of Fallot Summary • Anatomy • Incidence • Pathophysiology • Presentation • Common Variants •
• Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... #management #cardiology ... #peds #pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... syndrome associated ... an underlying genetic ... Diagnosis via genetic ... #management #treatment
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 ... oncology #hematology #diagnosis ... #management
Supracondylar Elbow Fracture • Most common elbow fracture in children, peak age 5-7 • When looking at
posterior) and bone ... ), compartment syndrome ... • ED Management ... Radiology #XRay #Diagnosis ... #MSK
One and a Half Syndrome on Physical Exam This 28 year old patient presented to clinic with
One and a Half Syndrome ... patient presented to clinic ... the hospital, diagnosed ... with MS, and started ... #PhysicalExam #
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 Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
PRES) Overview Clinico-Radiological ... brain PRES Clinical ... PRES-Associated Clinical ... Seizures: Treat with AEDs ... #diagnosis #management
Myasthenia Gravis Overview Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction. Ab to
myasthenia Diagnosis ... immunologic assay - MuSK ... immunosuppressants - Meds ... Myasthenia #Gravis #diagnosis ... #management #neurology
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
paediatrician or geneticist ... Muscle tone is assessed ... Newborn #Infant #PhysicalExam ... #Examination #Peds ... #Pediatrics #Diagnosis
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