De novo point mutations in patients diagnosed with ataxic cerebral palsy

Cerebral palsy is commonly attributed to perinatal asphyxia. However, Schnekenberg et al. describe here four individuals with ataxic cerebral palsy likely due to de novo dominant mutations associated with increased paternal age. Therefore, patients with cerebral palsy should be investigated for genetic causes before the disorder is ascribed to asphyxi

Prospectus, February 4, 1982

WE WANT YOU FOR STUGO; News In Brief; More StuGo prospects; Letters To The Editor: She thinks StuGo should attend to other problems. Thanks to former president; Exercise your right to vote; Nautical look \u27in\u27 this spring; PC Happenings…: Improve thyself, AHT offers Sweetheart raffle, Go Western in Ski Club, Managing your money; Teleview to make debut in March; Need financial aid? Here\u27s how to get it; Teleview to make debut in March; Sheriff discusses overcrowding at jail; Increased enrollment results in overcrowding; Com Club sets election; \u27Snow\u27 chance of a heat wave: Surprise storm hits area for 3rd weekend in a row!; Sunday\u27s snow nearly sets record; Not end of candy business: Chris\u27 reopening; Low-cost trips, tours offered to college students; Keeping friends is series topic; Few in Illinois have tax problems; J. Geils is back; Storm postpones athletic events; College bowling tourney held at Arrowhead; Kinks\u27 latest gives what we want; Big Daddy: rockabilly party; Rick James leads new Punk Funk wave; Something crazy was expected, but...: Ozzy pays back Champaign; This week\u27s happenings: Clubs offer local talent; Abba\u27s new album adds to their success; Reviewer enjoys brass band; \u27Dragonriders\u27 series deals in Pem fantasy; Classifieds; \u27Roots\u27 begins Feb. 9; Euchre tourney begins tonight; Skating party is Feb. 8; Top boxing prospect appearing at Danville; PC track team places in two events; Cagers keep winning streak alive with Joliet victory; Makeever leads Cobras to victory; Lady Cobras suffer defeat; Today\u27s farmer from new era; Burnham establishes scholarship; Farm technology is tapering off; Wind and cold make bitter combinationhttps://spark.parkland.edu/prospectus_1982/1030/thumbnail.jp

Using imaging to combat a pandemic:rationale for developing the UK National COVID-19 Chest Imaging Database

No abstract available

Towards nationally curated data archives for clinical radiology image analysis at scale: Learnings from national data collection in response to a pandemic

The prevalence of the coronavirus SARS-CoV-2 disease has resulted in the unprecedented collection of health data to support research. Historically, coordinating the collation of such datasets on a national scale has been challenging to execute for several reasons, including issues with data privacy, the lack of data reporting standards, interoperable technologies, and distribution methods. The coronavirus SARS-CoV-2 disease pandemic has highlighted the importance of collaboration between government bodies, healthcare institutions, academic researchers and commercial companies in overcoming these issues during times of urgency. The National COVID-19 Chest Imaging Database, led by NHSX, British Society of Thoracic Imaging, Royal Surrey NHS Foundation Trust and Faculty, is an example of such a national initiative. Here, we summarise the experiences and challenges of setting up the National COVID-19 Chest Imaging Database, and the implications for future ambitions of national data curation in medical imaging to advance the safe adoption of artificial intelligence in healthcare

De novo point mutations in patients diagnosed with ataxic cerebral palsy

Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and there is little proven evidence of genetic causes. As part of a large project investigating children with ataxia, we identified four patients in our cohort with a diagnosis of ataxic cerebral palsy. They were investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2. All the mutations were de novo and associated with increased paternal age. The mutations were shown to be pathogenic using a combination of bioinformatics analysis and in vitro model systems. This work is the first to report that the ataxic subtype of cerebral palsy can be caused by de novo dominant point mutations, which explains the sporadic nature of these cases. We conclude that at least some subtypes of cerebral palsy may be caused by de novo genetic mutations and patients with a clinical diagnosis of cerebral palsy should be genetically investigated before causation is ascribed to perinatal asphyxia or other aetiologies.peer-reviewe

Some aspects of flow and the diffusion of contaminent in pipes

Imperial Users onl

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene

Alexander disease is a rare neurodegenerative leucoencephalopathy caused by de novo mutations in the GFAP gene. Infantile, juvenile, and adult subtypes have been described and the clinical and radiological phenotypes are broad. Here we report on a single case of juvenile-onset Alexander disease associated with a novel frameshift mutation in the GFAP gene. The 8-year-old male patient had a relatively mild clinical phenotype characterized by dystonia, intermittent episodes of raised intracranial pressure, and characteristic radiological changes. He also presented with the additional and to our knowledge previously unreported, neuroimaging finding of periventricular calcification. We postulate that in children with leucoencephalopathy and periventricular calcification of undetermined aetiology, the diagnosis of Alexander disease should be considered. If the magnetic resonance imaging findings are compatible with Alexander disease, then DNA analysis of the GFAP gene should be performed even if the full criteria for a neuroradiological diagnosis are not me

An overview of the National COVID-19 Chest Imaging Database: data quality and cohort analysis

Background: the National COVID-19 Chest Imaging Database (NCCID) is a centralized database containing mainly chest X-rays and computed tomography scans from patients across the UK. The objective of the initiative is to support a better understanding of the coronavirus SARS-CoV-2 disease (COVID-19) and the development of machine learning technologies that will improve care for patients hospitalized with a severe COVID-19 infection. This article introduces the training dataset, including a snapshot analysis covering the completeness of clinical data, and availability of image data for the various use-cases (diagnosis, prognosis, longitudinal risk). An additional cohort analysis measures how well the NCCID represents the wider COVID-19-affected UK population in terms of geographic, demographic, and temporal coverage.Findings: the NCCID offers high-quality DICOM images acquired across a variety of imaging machinery; multiple time points including historical images are available for a subset of patients. This volume and variety make the database well suited to development of diagnostic/prognostic models for COVID-associated respiratory conditions. Historical images and clinical data may aid long-term risk stratification, particularly as availability of comorbidity data increases through linkage to other resources. The cohort analysis revealed good alignment to general UK COVID-19 statistics for some categories, e.g., sex, whilst identifying areas for improvements to data collection methods, particularly geographic coverage.Conclusions: the NCCID is a growing resource that provides researchers with a large, high-quality database that can be leveraged both to support the response to the COVID-19 pandemic and as a test bed for building clinically viable medical imaging models.</p