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diagnosis pediatrics genetics syndrome 21hydroxylasedeficiency 21ohd childhood cop crisis cryptogenic disease encephalopathy feedbackloop fungal gh growthhormone immunization infections infectiousdiseases mycoses
Feedback Loop: Growth Hormone (GH) Growth Hormone: • Liver -> GHR activates JAK-STAT pathway -> Incr IGF1
lipolysis Signs/Symptoms ... deficiency: - Short ... #FeedbackLoop #endocrinology ... #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... fractures • Short ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
Diagnosis and Management ... Clinical Signs/Symptoms ... back pain - Symptoms ... decreased reflexes Pathophysiology ... Residency @CMC_IM #Potts
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Childhood Immunization Schedule: Why we immunize • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
Tetanus Toxin -> Spores ... hemorrhagic rash; symptoms ... lymph -> Koplik's spots ... #Immunization #peds ... #pediatrics #pathophysiology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs ... Syndrome #diagnosis #management
Cryptogenic Organizing Pneumonia - Illness Script PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Females SIGNS/SYMPTOMS ... misdiagnosed as CAP • Symptoms ... identified (autoimmune, meds ... Pneumonia #diagnosis #management
Scleroderma Renal Crisis (SRC) Clinical Presentation of Scleroderma Renal Crisis: 1) Acute kidney injury 2) Abrupt onset of hypertension 3)
anemia (MAHA) Pathophysiology ... of arteries Management ... Initiate ACEi (short-acting ... , add other BP meds ... nephrology #diagnosis #management
Mycoses HISTOPLASMOSIS • Inhalation of conidia → Yeast → travel to lymph nodes → spread in body • Bird
acute respiratory symptoms ... Rheumatologic symptoms ... Inhalation of spores ... Aspergillosis Pathophysiology ... Fungal #Diagnosis #Management
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