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pediatrics clinical diagnosis management algorithm radiology differential physicalexam video causes derm cardiology ct ebm photo primarycare newborn honc em pathophysiology
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... molecular defect, CFTR mutations ... Other mutations ... Pathophys #Pulm #Peds ... ModulatorTherapy #NEJM
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... #clincial #peds ... calcifications #infant #NEJM
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations ... BreastCancer #DNARepair #NEJM
Distal Renal Tubular Acidosis Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Damage #Pathophys #Peds ... #Favism #g6pd #NEJM
PocketPEM - Resus Meds #Management #Pharm #Peds #EM #Resus #Medications #ResusMeds #Resuscitation #PocketCard #PocketPEM
PocketPEM - Resus Meds ... Management #Pharm #Peds
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome Clinical Syndrome: • Common Clinical Features: alveolitis, ear and
Features: • somatic mutations ... ubiquitylation • mutations ... myeloid cells NEJM
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Marfan Syndrome - Signs and Symptoms - Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15) -
- Caused by mutations
Mortality after Fluid Bolus in African Children with Severe Infection - June 30, 2011 N Engl
NEJMoa1101549 #EBM #Peds ... Boluses #Africa #NEJM
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