8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Fecal Incontinence - Pathogenesis and Complications
Continence mechanisms are impaired
 • Local neuronal damage
 • External and
irritable bowel syndrome ... (e.g. stroke, dementia ... #Incontinence #geriatrics ... #pathophysiology
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Aphaso-apraxo-agnosia syndrome ... atrophy Lewy body dementia ... Frontotemporal dementia ... Workup #Diagnosis #Geriatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Floppy Baby Syndrome ... • Infantile Botulism ... Myasthenia Gravis Clinical ... #Floppy #Baby #Syndrome ... #pediatrics #differential
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... Beckwith Wiedemann syndrome ... Diagnosis #Management #Endocrinology