13 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... Neonatology #Peds #Pediatrics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... additions, for diagnosing ... 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 ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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 ... #Pediatrics #Peds ... #Diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Total Anomalous Pulmonary Venous Return (TAPVR)
 • Introduction
 • Classification
 • Pathophysiology of TAPVR
 • Presentation
Classification • Pathophysiology ... PVO Present • Diagnosis ... Classic “snowman sign ... Return #TAPVR #diagnosis ... cardiology #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Newborn Assessment - APGAR Score

Assessment of newborn vital signs following labor via a 10-point scale evaluated
newborn vital signs ... develop long-term neurologic ... #Diagnosis #Peds ... #Pediatrics #APGAR
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... 1) Clinical diagnosis ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Causes of Urinary Incontinence - Differential Diagnosis Algorithm
 - Transient - Easily reversible cause (DIAPPERS)
- Differential Diagnosis ... Algorithm - Transient ... Contraction - Signs ... #Algorithm #Causes ... DIAPPERS #Mnemonic #Geriatrics