9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... fractures • Short ... #genetics #pathophysiology ... #peds #pediatrics
Shoulder Impingement Syndrome (SIS): Signs and Symptoms

Repetitive Overhead Activity, Scapular Dyskinesis -> Scapulohumeral mechanics become altered
(SIS): Signs and ... + Painful arc ... abduction + Neer's sign ... SIS #diagnosis #signs ... #pathophysiology
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Clinical Findings Genetics ... > Keratoconus Signs ... / Symptoms / Complications ... Ring • Munson's sign ... • Rizutti's Sign
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Short Bowel Syndrome - Acute and Chronic Adverse Signs and Symptoms of Ileal Resection
 • Dehydration
Short Bowel Syndrome ... Chronic Adverse Signs ... and Symptoms of ... #Signs #Symptoms ... Ileal #Resection #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
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 ... Newborn #Infant #PhysicalExam ... Examination #Peds #Pediatrics
Nail Pathologies - Findings in or Near Nails

Paronychia 

A superficial infection of the proximal and lateral
in innervation, genetics ... Spots in the pattern ... seen in Reiter's syndrome ... Diagnosis #Clinical #Signs ... #PhysicalExam #