Methazolamide Associated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis in a Female of Caucasian Descent.

Stevens-Johnson syndrome (SJS) is a potentially life-threatening cutaneous disorder that is characterized by skin erosions. It lies on a spectrum of varying severity with toxic epidermal necrolysis (TEN) being the most severe form. An overlap of the syndromes is known as SJS/TEN. These disorders are most often caused by a drug reaction, with anti-epileptic drugs and sulfonamide drugs as the common offending agents. Rarely, the syndrome can be due to a reaction to carbonic anhydrase inhibitors such as methazolamide. When present in association with methazolamide, the syndrome has only been known to occur in patients of Asian descent with human leukocyte antigen (HLA) mutations. We present a case of methazolamide-associated Stevens-Johnson syndrome in a patient of Caucasian descent.

Acute STEMI Due to Severe Triple-Vessel Spasm After IV Adenosine Injection During Cryo-Balloon Isolation.

Adenosine IV is commonly used after pulmonary vein isolation to check for dormant electrical conduction. Herein, we present the case of a 60-year-old patient who exhibited marked hypotension, conduction abnormalities, and ST-segment elevation after routine adenosine injection. Coronary angiography revealed diffuse coronary spasm that was successfully treated with intracoronary nitroglycerin. (Level of Difficulty: Intermediate.).

White matter abnormalities in 22q11.2 deletion syndrome: preliminary associations with the Nogo-66 receptor gene and symptoms of psychosis.

BACKGROUND: This study utilized diffusion tensor imaging (DTI) to analyze white matter tractography in the anterior limb of the internal capsule (ALIC), fornix, and uncinate fasciculus (UF) of individuals with 22q11.2 deletion syndrome and controls. Aberrations in these tracts have been previously associated with schizophrenia. With up to 25% of individuals with 22q11.2DS developing schizophrenia in adulthood, we hypothesized reduction in structural integrity of these tracts, including an association with prodromal symptoms of psychosis. We further predicted an association between allelic variation in a functional polymorphism of the Nogo-66 receptor gene and 22q11.2DS white matter integrity. METHODS: Tractography was conducted using fiber assignment by streamline tracking algorithm in DTI Studio. Subjects were genotyped for the rs701428 SNP of the Nogo-66 receptor gene, and assessed for presence of prodromal symptoms. RESULTS: We found significant group differences between 22q11.2DS and controls in DTI metrics for all three tracts. DTI metrics of ALIC and UF were associated with prodromal symptoms in 22q11.2DS. Further, ALIC DTI metrics were associated with allelic variation of the rs701428 SNP of the Nogo-66 receptor gene in 22q11.2DS. CONCLUSIONS: Alterations in DTI metrics suggest white matter microstructural anomalies of the ALIC, fornix, and UF in 22q11.2DS. Structural differences in ALIC appear to be associated with the Nogo-66 receptor gene, which has been linked to myelin-mediated axonal growth inhibition. Moreover, the association between psychosis symptoms and ALIC and UF metrics suggests that the Nogo-66 receptor gene may represent a susceptibility gene for psychosis through its disruption of white matter microstructure and myelin-associated axonal growth.