19 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... Risk factor for Late ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... diagnosis #signs #symptoms
Monoclonal Gammopathy of Clinical Significance (MGUS) - Differential Diagnosis

Neurologic-Centered:
 (+) Systemic Features: POEMS, AL amyloid, Cryoglobulinemia
Gammopathy of Clinical ... DADS-M, Sporadic, late-onset ... capillary leak syndrome ... • Schnitzler syndrome ... Diagnosis #hematology #oncology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... Carpal Tunnel Syndrome ... diagnosis #signs #symptoms ... endocrinology #pathophysiology
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
may cause severe clinical ... deficiency (thiamine) Late ... overload) Other Symptoms ... #Nutrition #Differential ... #Diagnosis #Pathophysiology
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary

Causes of Rhabdomyolysis:
 • Trauma:
	- Immobilization
	- Crush injury
	- Compartment
Rhabdomyolysis - Differential ... Dermatomyositis Clinical ... : • Triad of symptoms ... • Hypocalcemia/Late ... • HAGMA • Late
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
Differentiation Syndrome ... ATRA treatment Pathophysiology ... Diagnosis: >3 symptoms ... initiation • Differential ... management #hematology #oncology
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
Constitutional Syndromes ... Aplastic Anemia Clinical ... skin color • Difficulty ... • Improve the symptoms ... Aplastic #Anemia #oncology
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 ... , vomiting • Late ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
capillary leak syndrome ... neuropathy) • Systemic late-onset ... Thrombosis in vascular beds-renal ... Hematology #Monoclonal #Differential ... #Diagnosis #Oncology