Ensembles of Breathing Nucleosomes: A Computational Study

Theoretical PhysicsBiological and Soft Matter Physic

Ensembles of breathing nucleosomes: a computational study

Theoretical Physic

Гипотензивный эффект факоэмульсификации катаракты у больных с некомпенсированной первичной открытоугольной глаукомой

Нами було досліджено вплив факоемульсифікації катаракти з імплантацією інтраокулярної лінзи на внутришньоочний тиск (ВОТ). Обстежено та прооперовано 44 ока (36 людей) хворих на катаракту зпідвищеннимвнутриочним тиском, який тримався на тлі прийому двох чи більше гіпотензивних препаратах, та з відкритим кутом передньої камери.Очі були поділені на дві групи: у першу групу увійшли очі з псевдоесфоліативним синдромом, друга – без псевдо ексфоліацій. Більш виражене зниження внутрішньоочного тиску спостерігалося на очах з псевдоексфоліативним синдромом (32,4%) ніж на очах без нього (27,6%). В результаті проведеного лікування крім нормалізації офтальмотонуса вдалося зменшити кількість застосовуваних гіпотензивних препаратів або повністю відійти від них на оперованих очах.Факоемульсифікація катаракти є ефективною методикою нормалізації ВОТ у хворих з ПВКГ і катарактою та може рекомендуватися як метод першого вибору в тактиці лікування даної групи пацієнтів.We have investigated the effect of phacoemulsification of cataract with implantation of intraocular lenses on intraocular pressure (IOP). Examined and operated 44 eyes (36 patients) with cataract and high intraocular pressure, which was kept in the background taking two or more antihypertensive medications, and an open anterior chamber angle. Eyes were divided into two groups: first group included eyes with psevdoesfoliation syndrome, the second – with out pseudoeksfoliation. A marked reduction of intraocular pressure was observed in eyes with PEX syndrome (32.4%) thanineyeswithout (27.6%). As a result of treatment but normalization of IOP managed to reduce the number of antihypertensive drugs used or completely away from them on the operated eyes. Phacoemulsification of the cataract is an effective method of normalization of IOP in patients with POAG and cataract and be recommended as a method of first choice in tactics of treatment of this patient group

CAPICE:a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Exome sequencing is now mainstream in clinical practice. However, identification of pathogenic Mendelian variants remains time-consuming, in part, because the limited accuracy of current computational prediction methods requires manual classification by experts. Here we introduce CAPICE, a new machine-learning-based method for prioritizing pathogenic variants, including SNVs and short InDels. CAPICE outperforms the best general (CADD, GAVIN) and consequence-type-specific (REVEL, ClinPred) computational prediction methods, for both rare and ultra-rare variants. CAPICE is easily added to diagnostic pipelines as pre-computed score file or command-line software, or using online MOLGENIS web service with API. Download CAPICE for free and open-source (LGPLv3) at https://github.com/molgenis/capice.

Knowledge for Climate 2008-2014

This is the final report (eindrapport) of the national Knowledge for Climate (KfC) research program. The program was set up in 2007 to explore the consequences of climate change for the Netherlands and how they should be managed. To that end, an independent foundation was established with the objective of “promoting evidence-based and practice- driven knowledge about climate in the public interest, including making that knowledge available to the public. The foundation has achieved that objective, together with stakeholders, by organizing and funding research and encouraging the processes of knowledge dissemination and application. Follow-up foundations are: Delta Alliance International, Climate Adaptation Services, Waterbuffer Foundation. The program did not aim to influence regional and local authorities directly. It provided the knowledge needed to improve decision-making regarding long term spatial planning investments. The program provided the tools – for example the Climate Adaptation Atlas – so that local and regional authorities can get to work on adaptation

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously been associated with congenital heart defects and cardiomyopathy. However, other features, including short stature, facial dysmorphisms, connective tissue abnormalities and a variable degree of developmental delay, have only been mentioned occasionally in literature and thus far not linked to TAB2. In a large-scale, social media-based chromosome 6 study, we observed a shared phenotype in patients with a 6q25.1 deletion that includes TAB2. To confirm if this phenotype is caused by haploinsufficiency of TAB2 and to delineate a TAB2-related phenotype, we subsequently sequenced TAB2 in patients with matching phenotypes and recruited patients with pathogenic TAB2 variants detected by exome sequencing. This identified 11 patients with a deletion containing TAB2 (size 1.68-14.31 Mb) and 14 patients from six families with novel truncating TAB2 variants. Twenty (80%) patients had cardiac disease, often mitral valve defects and/or cardiomyopathy, 18 (72%) had short stature and 18 (72%) had hypermobility. Twenty patients (80%) had facial features suggestive for Noonan syndrome. No substantial phenotypic differences were noted between patients with deletions and those with intragenic variants. We then compared our patients to 45 patients from the literature. All literature patients had cardiac diseases, but syndromic features were reported infrequently. Our study shows that the phenotype in 6q25.1 deletions is caused by haploinsufficiency of TAB2 and that TAB2 is associated not just with cardiac disease, but also with a distinct phenotype, with features overlapping with Noonan syndrome. We propose the name "TAB2-related syndrome"

Is there anybody out there? Occupancy of the carnivore guild in a temperate archipelago

Carnivores are important components of ecological communities with wide-ranging effects that vary with carnivore size, natural history, and hunting tactics. Researchers and managers should strive to understand both the presence and distribution of carnivores within their local environment. We studied the carnivore guild in the Apostle Islands, where the distribution and occupancy of carnivores was largely unknown. We monitored 19 islands with 160 functioning camera traps from 2014-2017, from which we collected 203,385 photographs across 49,280 trap nights. We documented 7,291 total wildlife events with 1,970 carnivore events, and detected 10 of the 12 terrestrial carnivores found in Wisconsin. Detection rates for species were generally higher in summer than winter, except for coyotes (Canis latrans) and red foxes (Vulpes vulpes). Finitesample occupancy estimates for carnivores varied across islands, with mean estimated occupancy across islands varying from a high of 0.73 for black bears to a low of 0.21 for gray wolves. Of the potential island biogeography explanatory variables for carnivore occupancy we considered, island size was the most important, followed by distance to the mainland, and then interisland distance. We estimated that terrestrial carnivore species varied in the number of islands they were detected on from 1 island for gray wolves to 13 islands for black bears. Estimated carnivore richness across islands (i.e., the number of carnivores occupying an island) also varied substantively from 1 species on Michigan Island to 10 species on Stockton Island. Island size and connectivity between islands appear important for the persistence of the carnivore community in the Apostle Islands