13 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical findings ... Signs/Symptoms ... pulmonale #PraderWilli ... #Syndrome #genetics ... pathophysiology #peds
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical Findings ... Genetics • Family ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign
Kussmaul's Sign on Neck Physical Examination

Elderly woman with a history of myocardial revascularization surgery is hospitalized
Kussmaul's Sign ... heart failure syndrome ... The Kussmaul sign ... #Kussmauls #Sign ... #PhysicalExam #
Refeeding Syndrome: Pathogenesis and clinical findings

Patients at Risk of Refeeding Syndrome:
 - Little or no nutritional
Refeeding Syndrome ... Pathogenesis and clinical findings ... - CHF - Pulmonary ... pathophysiology #symptoms ... #signs
Clinical features of Liver Disease in Children

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

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#LiverFailure #Signs ... #Symptoms #PhysicalExam ... #Findings #Diagnosis ... #Peds #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical Findings ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
e.g. incidental CXR ... finding) ... Pulmonary: dyspnea ... acute sarcoidosis Pulmonary ... Diagnosis #Management #Signs
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
Pathogenesis and Clinical Findings ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... Pathophysiology #Diagnosis #Signs ... #Symptoms
Bronchiectasis - Summary

What?
• Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... • Mounier-Kuhn syndrome ... dyskinesia • Young syndrome ... Nasal polyps and signs ... Physical stigmata of cor
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