33 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... #physicalexam #pediatrics ... #genetics #dermatology
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... Neonatology #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... cardiology #peds #pediatrics
Nuchal Rigidity in Infantile Bacterial Meningitis

Flexion of the neck revealed nuchal rigidity. The patient was unable
Nuchal Rigidity in Infantile ... From - Journal of Pediatrics ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics
Lewy Body Dementia: Pathogenesis and Clinical Findings
Lewy Body Dementia is a sub-category of major or mild
Lewy Body Dementia ... Pathogenesis and Clinical ... Clinical manifestations ... #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... atrophy Lewy body dementia ... Frontotemporal dementia ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Fecal Incontinence - Pathogenesis and Complications
Continence mechanisms are impaired
 • Local neuronal damage
 • External and
(e.g. stroke, dementia ... #Incontinence #geriatrics ... #pathophysiology
Nuchal Rigidity in Infantile Bacterial Meningitis

Flexion of the neck revealed nuchal rigidity. The patient was unable
Nuchal Rigidity in Infantile ... #PhysicalExam #Clinical ... #Video #Peds #Pediatrics