Hypertrophic cardiomyopathy with midventricular obstruction and apical aneurysm formation in a single family: case report

<p>Abstract</p> <p>Background</p> <p>Hypertrophic cardiomyopathy (HCM) is an extremely heterogeneous disease. An under recognized and very often missed subgroup within this broad spectrum concerns patients with left ventricular (LV) apical aneurysms in the absence of coronary artery disease.</p> <p>Case presentation</p> <p>We describe a case of HCM with midventricular obstruction and apical aneurysm formation in 3 patients coming from a single family. This HCM pattern was detected by 2D-echocardiography and confirmed by cardiac magnetic resonance imaging. A cardioverter defibrillator was implanted in one of the patients because of non-sustained ventricular tachycardia detected in 24-h Holter monitoring and an abrupt drop in systolic blood pressure during maximal exercise test. The defibrillator activated 8 months after implantation by suppression of a ventricular tachycardia providing anti-tachycardia pacing. The patient died due to refractory heart failure 2 years after initial evaluation. The rest of the patients are stable after a 2.5-y follow-up period.</p> <p>Conclusion</p> <p>The detection of apical aneurysm by echocardiography in HCM patients may be complicated. Ventricular tachycardia arising from the scarred aneurysm wall may often occur predisposing to sudden death.</p

Geophagy Practices and the Content of Chemical Elements in the Soil Eaten by Pregnant Women in Artisanal and Small Scale Gold Mining Communities in Tanzania.

Geophagy, a form of pica, is the deliberate consumption of soil and is relatively common across Sub-Saharan Africa. In Tanzania, pregnant women commonly eat soil sticks sold in the market (pemba), soil from walls of houses, termite mounds, and ground soil (kichuguu). The present study examined geophagy practices of pregnant women in a gold mining area of Geita District in northwestern Tanzania, and also examined the potential for exposure to chemical elements by testing soil samples. We conducted a cross sectional study using a convenience sample of 340 pregnant women, ranging in age from 15-49 years, who attended six government antenatal clinics in the Geita District, Tanzania. Structured interviews were conducted in June-August, 2012, to understand geophagy practices. In addition, soil samples taken from sources identified by pregnant women practicing geophagy were analysed for mineral element content. Geophagy was reported by 155 (45.6%) pregnant women with 85 (54.8%) initiating the practice in the first trimester. A total of 101 (65%) pregnant women reported eating soil 2 to 3 times per day while 20 (13%) ate soil more than 3 times per day. Of 155 pregnant women 107 (69%) bought pemba from local shops, while 48 (31%) consumed ground soil kichuguu. The estimated mean quantity of soil consumed from pemba was 62.5 grams/day. Arsenic, chromium, copper, iron, manganese, nickel and zinc levels were found in both pemba and kichuguu samples. Cadmium and mercury were found only in the kichuguu samples. Based on daily intake estimates, arsenic, copper and manganese for kichuguu and copper and manganese for pemba samples exceed the oral Minimum Risk Levels designated by the U.S. Agency for Toxic Substance and Disease Registry. Almost 50% of participants practiced geophagy in Geita District consistent with other reports from Africa. Both pemba and kichuguu contained chemical elements at varying concentration, mostly above MRLs. As such, pregnant women who eat soil in Geita District are exposed to potentially high levels of chemical elements, depending upon frequency of consumption, daily amount consumed and the source location of soil eaten

Consensus guidelines for the use and interpretation of angiogenesis assays

The formation of new blood vessels, or angiogenesis, is a complex process that plays important roles in growth and development, tissue and organ regeneration, as well as numerous pathological conditions. Angiogenesis undergoes multiple discrete steps that can be individually evaluated and quantified by a large number of bioassays. These independent assessments hold advantages but also have limitations. This article describes in vivo, ex vivo, and in vitro bioassays that are available for the evaluation of angiogenesis and highlights critical aspects that are relevant for their execution and proper interpretation. As such, this collaborative work is the first edition of consensus guidelines on angiogenesis bioassays to serve for current and future reference

Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe