10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Clinical features of Liver Disease in Children

#Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology

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Clinical features ... of Liver Disease ... #LiverFailure #Signs ... #Symptoms #PhysicalExam ... #Pediatrics #Hepatology
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 ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Kawasaki Disease - Timeline of Clinical Features and Complications
 - Fever >5 days 
 - 4
Kawasaki Disease ... - Timeline of Clinical ... Timeline #Features #Signs ... #Symptoms #Peds ... #Pediatrics
Pseudogout: pathogenesis and clinical findings
 - Idiopathic (vast majority of cases) -> Mechanism unknown
 - Familial
pathogenesis and clinical ... high-resolution ultrasound ... PAINFUL, warm, swollen ... Pseudogout #CPPD #Disease ... #Signs #Symptoms
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
Abnormal liver function ... symptoms/signs ... alcohol-related liver disease ... non-alcoholic fatty liver disease ... mellitus; USS, ultrasound
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
neurological lesion: Clinical ... and signs below ... injury • Gait is abnormal ... Vascular/Blockage ... Sarcoidosis, Behcet disease
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
Transverse Myelitis - Clinical ... • Bilateral signs ... and/or symptoms ... or less swollen ... Sjogren's • CSF: - Abnormal
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
are often red, swollen ... the Fingers Clinically ... in innervation, genetics ... #Abnormal #Pathology ... #Signs #PhysicalExam
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis