44 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
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
Brudzinski's Sign on Physical Exam - Meningitis

#Brudzinskis #Sign #PhysicalExam #clinical #video #neurology #peds #pediatrics #meningitis
Brudzinski's Sign ... #Brudzinskis #Sign ... #PhysicalExam #clinical ... #video #neurology ... #peds #pediatrics
Gowers' Sign on Physical Exam

Seen in this patient with Duchenne muscular dystrophy (DMD)

#Gowers #Sign #PhysicalExam #neurology
Gowers' Sign on ... DMD) #Gowers #Sign ... #PhysicalExam #neurology ... #clinical #video ... #pediatrics #muscular
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Kernig's Sign in Meningitis

Kernig's sign is present if the patient, in the supine position with the
Kernig's Sign in ... Meningitis Kernig's sign ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics ... #Peds #neurology
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... Brudzinski's sign ... While the pathophysiology ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... > Keratoconus Signs ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Acute Kidney Injury - AKI Workup Algorithm and Differential Diagnosis
Baseline Investigations: full blood count with differential,
Injury - AKI Workup Algorithm ... investigations depending on clinical ... context and signs ... , HIV serology, ... #AKI #Workup #Algorithm