43 research outputs found

    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

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    We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

    withdrawn 2017 hrs ehra ecas aphrs solaece expert consensus statement on catheter and surgical ablation of atrial fibrillation

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    Mortality and pulmonary complications in patients undergoing surgery with perioperative SARS-CoV-2 infection: an international cohort study

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    Background: The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on postoperative recovery needs to be understood to inform clinical decision making during and after the COVID-19 pandemic. This study reports 30-day mortality and pulmonary complication rates in patients with perioperative SARS-CoV-2 infection. Methods: This international, multicentre, cohort study at 235 hospitals in 24 countries included all patients undergoing surgery who had SARS-CoV-2 infection confirmed within 7 days before or 30 days after surgery. The primary outcome measure was 30-day postoperative mortality and was assessed in all enrolled patients. The main secondary outcome measure was pulmonary complications, defined as pneumonia, acute respiratory distress syndrome, or unexpected postoperative ventilation. Findings: This analysis includes 1128 patients who had surgery between Jan 1 and March 31, 2020, of whom 835 (74·0%) had emergency surgery and 280 (24·8%) had elective surgery. SARS-CoV-2 infection was confirmed preoperatively in 294 (26·1%) patients. 30-day mortality was 23·8% (268 of 1128). Pulmonary complications occurred in 577 (51·2%) of 1128 patients; 30-day mortality in these patients was 38·0% (219 of 577), accounting for 81·7% (219 of 268) of all deaths. In adjusted analyses, 30-day mortality was associated with male sex (odds ratio 1·75 [95% CI 1·28–2·40], p\textless0·0001), age 70 years or older versus younger than 70 years (2·30 [1·65–3·22], p\textless0·0001), American Society of Anesthesiologists grades 3–5 versus grades 1–2 (2·35 [1·57–3·53], p\textless0·0001), malignant versus benign or obstetric diagnosis (1·55 [1·01–2·39], p=0·046), emergency versus elective surgery (1·67 [1·06–2·63], p=0·026), and major versus minor surgery (1·52 [1·01–2·31], p=0·047). Interpretation: Postoperative pulmonary complications occur in half of patients with perioperative SARS-CoV-2 infection and are associated with high mortality. Thresholds for surgery during the COVID-19 pandemic should be higher than during normal practice, particularly in men aged 70 years and older. Consideration should be given for postponing non-urgent procedures and promoting non-operative treatment to delay or avoid the need for surgery. Funding: National Institute for Health Research (NIHR), Association of Coloproctology of Great Britain and Ireland, Bowel and Cancer Research, Bowel Disease Research Foundation, Association of Upper Gastrointestinal Surgeons, British Association of Surgical Oncology, British Gynaecological Cancer Society, European Society of Coloproctology, NIHR Academy, Sarcoma UK, Vascular Society for Great Britain and Ireland, and Yorkshire Cancer Research

    STATE OF PUBLIC LIBRARIES IN PUNJAB (INDIA): A PRELIMINARY STUDY

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    In the last couple of decades, significant changes have been taken place in all spheres of life. These changes have been imposing challenges to almost all the professions and professionals. The library and information science (LIS) profession and professionals are not spared from it. Generally, the libraries are known as buildings with stacks of books and signs of silence everywhere. The computers and the Internet have revolutionized common man a lot. It has not only changed the working process but also thought process as well. Today, the user wants authentic information with a click of the mouse and if libraries are unable to fulfill their information needs the existence of libraries expected to get questioned. In this study, efforts are being made to assess the state of public libraries in Punjab which somewhere are not meeting the users’ information demands. The use of information technology in these libraries is not encouraging which reflected through the below standard library services being rendered by these libraries. Only State Central Library Patiala is considered as purely an automated library which also has a digital wing to digitize manuscripts available with it, rest other public libraries of Punjab are in pathetic condition

    Irrigation subsidies in Karnataka : a growing constraint for reforms

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    Kinetics of isothermal annealing of radiation damage in szilard-chalmers reaction with cobalt complexes. Part I. Tris-acetylacetone cobalt (III)-section 1

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    Isothermal annealing has been found to follow first-order kinetics for the range of temperature studied. It has been found that the previous thermal history is reflected in the rate-constant (k) and the plot of log k versus 1/T exhibits a marked curvature. This has been explained as due to the fact that the annealing reaction leading to the parent specie is not a simple unimolecular one but is complex, involving several stages which in turn exercise mutual influence on other competing reactions preventing annealing. During an isothermal anneal, the fate of the metastable specie is decided by three competitive reactions-one for annealing to the parent specie and the other two working in the reverse direction-the existence of which have been shown by graphical analysis of experimental data. One of the latter processes seem to be amenable to reversal in the sense that more metastable specie becomes available for anneal at a higher temperature after a run to infinity at a lower one. It seems that this process consists of 'setting' or 'trapping' of the metastable specie with variable depths-a physical process which inhibits at the particular temperature, the annealing of the metastable specie. Considerable experimental work would be required to elucidate unambiguously the nature of the damage centre but the indications are that it is of a 'configurational' or 'electronic' nature, as it is amenable to both 'thermal' as well as 'radiation' annealing
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