20 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
Abnormal liver function ... initial response to abnormal ... /or suspicious clinical ... symptoms/signs ... presence of metabolic syndrome
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Floppy Baby Syndrome ... • Infantile Botulism ... Myasthenia Gravis Clinical ... LMN signs - Assess ... #pediatrics #differential
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... (pain/abnormal ... #Signs #Symptoms
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Pathophysiology ... meningococcal, H1N1) Clinical ... Guillain-Barre Clinical ... CSF PROTEIN - NORMAL ... #diagnosis #management
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... If abnormal, this ... are observed for signs ... the abdomen, the liver ... Examination #Peds #Pediatrics
Stiff Person Syndrome (SPS) - Diagnosis and Management Summary

Epidemiology:
 • Prevalence: 1-2 cases per million -
Diagnosis and Management ... Pathophysiology ... Clinical Manifestations ... Oligoclonal bands • Normal ... SPS #Diagnosis #Management
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... Beckwith Wiedemann syndrome
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
to 8 years Clinical ... disease • Liver ... and M panel Management ... : • Nephrotic syndrome ... (Epstein-Barr syndrome