45 results
Role of G6PD in Protection against Oxidative Damage #Pathophys #Peds #Genetics #Honc #Favism #g6pd #NEJM
Pathophys #Peds #Genetics ... #Favism #g6pd #NEJM
Uterine Rupture with Protruded Legs in a Large Amniocele #Clinical #Radiology #OBGyn #MRI #UterineRupture #Amniocele #NEJM
Radiology #OBGyn #MRI ... UterineRupture #Amniocele #NEJM
Creutzfeldt-Jakob Disease - Magnetic resonance imaging (MRI) revealed hyperintensity of the cortical gyri of the frontal
resonance imaging (MRI ... Neuro #Radiology #MRI ... CreutzfeldJakob #NEJM
Hypertrophic Cardiomyopathy (HOCM) - Diagnosis and Management
Diagnosis
 1. Wall thickness 215 mm (TTE/CT/MRI) 
 2. Absence
215 mm (TTE/CT/MRI ... LVH (Supportive: genetic ... testing, LGE on MRI
Nystagmus from Wernicke’s Encephalopathy - Magnetic resonance imaging of the brain showed T2 hyperintensities involving the
Neuro #Wernicke #MRI ... #Thalamus #NEJM
Disseminated Cysticercosis - Magnetic resonance imaging (MRI) of the head revealed diffuse hyperintense septated cystic lesions
resonance imaging (MRI ... Coronal MRI of the ... Radiology #Pathology #MRI ... Solium #Microscopy #NEJM
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
do not occur in utero ... pathophysiology #genetics
PCI in Acute MI with Cardiogenic Shock. #EBM #Cardiology #CULPRITSHOCK #PCI #VisualAbstract #NEJM
PCI in Acute MI ... VisualAbstract #NEJM
Krabbe Disease 

Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
disease, a rare genetic ... Disease #Diagnosis #MRI
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
biochemical & genetic ... Syndrome #Clinical #MRI