EPI Update, March 13, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, March 20, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, March 27, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, April 3, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, April 10, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, April 17, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, April 24, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, May 8, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, May 1, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma.

Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) occur in most grade 2 and 3 gliomas, secondary glioblastomas, and a subset of acute myelogenous leukemias but have not been detected in other tumor types. The mutations occur at specific arginine residues and result in the acquisition of a novel enzymatic activity that converts 2-oxoglutarate to D-2-hydroxyglutarate. This study reports IDH1 and IDH2 genotyping results from a set of lymphomas, which included a large set of peripheral T-cell lymphomas. IDH2 mutations were identified in approximately 20% of angioimmunoblastic T-cell lymphomas (AITLs), but not in other peripheral T-cell lymphoma entities. These results were confirmed in an independent set of AITL patients, where the IDH2 mutation rate was approximately 45%. This is the second common genetic lesion identified in AITL after TET2 and extends the number of neoplastic diseases where IDH1 and IDH2 mutations may play a role.

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

To determine incidence and type of major cardiac adverse events in patients with mutated desmin (DES) gene, we retrospectively reviewed baseline medical information, and examined the long-term outcomes of 28 DES patients (17 men, baseline mean age=37.7±14.4 years [min=9, max=71]) from 19 families. Baseline studies revealed skeletal muscle involvement in 21 patients and cardiac abnormalities in all but one patient. Over a mean follow-up of 10.4±9.4 years [min=1, max=35], cardiac death occurred in three patients, death due to cardiac comorbidities in two, one or more major cardiac adverse events in 13 patients. Among the 19 patients with mild conduction defects at baseline, eight developed high-degree conduction blocks requiring permanent pacing. Cardiac involvement was neither correlated with the type of DES mutation nor with the severity of skeletal muscle involvement. Our study underscores that in DES patients in-depth cardiac investigations are needed to prevent cardiac conduction system disease.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

BACKGROUND/AIMS: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. METHODS: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. RESULTS: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. CONCLUSIONS: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.

EPI Update, May 15, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, May 22, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, May 29, 2015

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.