29 results
diagnosis management features kawasaki differential iem inbornerrors metabolism neonatology neurology nicu ophthalmology physicalexam syndrome table vasculitis 21hydroxylasedeficiency 21ohd agammaglobulinemia als
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Practical Pediatric Viral Rash Algorithm Child presenting with rash and current/ recent symptoms of viral illness but
Practical Pediatric ... Viral Rash Algorithm ... five days and no signs ... / symptoms of sepsis ... #Pediatrics #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Algorithm for the Evaluation and Management of Suspected Congenital Heart Disease in Neonates Neonates with undiagnosed congenital
Algorithm for the ... Congenital Heart Disease ... with nonspecific symptoms ... Neonates #Neonatal #Peds ... #Pediatrics #Cardiology
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
Kawasaki Disease ... #Kawasaki #Disease ... #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... /Symptoms: - Fever ... Anemia - Giant cells ... Temporal #Arteritis #Pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
epidemiology of this disease ... history of the disease ... Genetic Predisposition ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology
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
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