23 results
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
Krabbe Disease ... case of Krabbe disease ... testing and expedite treatment ... failure, cerebellar ataxia ... MarkMamloukMD #Krabbe #Disease
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Motor dysfunction: myoclonic ... incontinence, apraxia
Risk Factors and Signs of Copper Deficiency
Risk Factors:
 • Gastrointestinal: Previous upper bowel resection/bariatric surgery, Inflammatory
Inflammatory bowel disease ... dental fixatives, Treatment ... of Wilson's disease ... Metabolic: Menkes disease ... Optic neuropathy, Ataxia
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Cerebrovascular Disease ... Puncture, EEG Treatment ... prevention (statin for CVA ... diagnosis #management #treatment
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
Puberty Onset (BA = CA ... Puberty Onset (BA < CA ... • Cushing's Disease ... Panhypopituitarism Treatment ... Transplant Chronic Disease
Invasive Candidiasis (IC)

Diagnosis:
Culture:
 • Gold standard, but Slow (~2-3 days), 50% sensitivity
 • Blood Sample
 •
Line Targeted Treatment ... Funduscopic Exam • CVC ... • Infectious Diseases ... candida #auris #treatment
Smoking Cessation and Nicotine Replacement Therapy (NRT)
Smoking is the leading cause of preventable death and a
multiple cancers, CV ... disease, stroke ... contraceptives, due to ↑ CV ... NRT #management #treatment
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
• Heavy Chain disease ... predominance) • CANOMAD (Ataxia ... Scleromyxedema (CNS+GI+CVS ... • Amyloidosis (CVS ... Sneddon-Wilkinson disease
Hyperthyroidism Overview

Clinical Manifestation of Hyperthyroidism:
 • Fatigue
 • Weight loss
 • Heat intolerance
 • Depression, nervousness
goiter (Graves' disease ... Metastatic Follicular CA ... TRAb) if Graves' disease ... ↑ AST/ALT • Treatment ... tenderness Treatment
Premature Ventricular Complexes (PVC's) - Summary Framework

Why PVCs?  Can be the first manifestation of cardiac
Coronary artery disease ... structural heart disease ... ischemic heart disease ... capture of the atria ... more intensive treatment