15 results
Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the
Classes of Mutations ... no functional CFTR ... trafficking defect caused ... Pathophys #Pulm #Peds ... ModulatorTherapy #NEJM
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
acid lipase is critical ... and gut, which causes ... #clincial #peds ... calcifications #infant ... #NEJM #Wolmans
The infant with tachypnea or wheeze - Clinical Conditions to Consider
 - Bronchiolitis 
 - Pneumonia
The infant with ... tachypnea or wheeze - Clinical ... disorder - Other causes ... #Diagnosis #Peds ... #Pediatrics #Infant
Vibrio Vulnificus skin infection
Cirrhosis w/recent consumption of raw oysters w/rapidly evolving rash. 
Vibrio vulnificus part of
rapidly evolving rash ... marine microbiota & causes ... , hypotension, rash ... immunosuppressive meds ... dermatology #legs #clinical
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... deficiencies present in infants ... endocrinology #peds
Moccasin-variety Tinea Pedis 
70 M chronic scaly feet. Over the years: rash has itched only occasionally;
Moccasin-variety Tinea Pedis ... Over the years: rash ... dermatophytes cause ... Moccasin tinea pedis ... Variety #type #clinical
Examination revealed exudative tonsillitis (Panel A), strawberry tongue, and cervical adenopathy with tenderness. Skin examination revealed
punctate papules that caused ... #Clinical #PrimaryCare ... #ScarletFever #Rash ... StrepPyogenes #NEJM
Radial Fracture Due to Parathyroid Carcinoma- ...A plain radiograph of the left arm showed a diaphyseal
hyperparathyroidism, with an intact ... which is a rare cause ... #clinical #radiology ... #NEJM #parathyroid
Clinical Trial of Fluid Infusion Rates for Pediatric Diabetic Ketoacidosis - Kupperman et al. NEJM 2018

https://www.nejm.org/doi/full/10.1056/NEJMoa1716816
Study
Clinical Trial of ... NEJM 2018 https ... out what does cause ... VisualAbstract #Peds ... Infusion #Rates #NEJM
Tone - Hand Position on Physical Exam

A newborn baby’s hand is held in a fisted position
hand will often cause ... neuron lesion in an infant ... #PhysicalExam #clinical ... #video #peds #pediatrics