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Now showing items 1354-1373 of 2646
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Joined-up-care: Neurological and obstetric services working in partnership. A case study
(MAG Online Library, 2007-04) -
Joint UK societies' 2019 consensus statement on renal denervation
(BMJ, 2019-10)Improved and durable control of hypertension is a global priority for healthcare providers and policymakers. There are several lifestyle measures that are proven to result in improved blood pressure (BP) control. Moreover, ... -
A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation
(Elsevier, 2017-07)Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether ... -
Juvenile diabetes and visual impairment: Wolfram syndrome
(PubMed Central, 2019-10-01) -
KCNJ11 mutations cause sever neuropsychological deficits
(BMJ, 2016)KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in brain regions including the hypothalamus, neocortex and cerebellum. Its neurological function is uncertain. KCNJ11 activating ... -
Keratoacanthoma management: results of a survey of UK dermatologists and surgeons.
(Wiley, 2017-07-30)Distinction of keratoacanthoma (KA) from squamous cell carcinoma (SCC) is challenging. Management is controversial, with some advocating prompt surgical excision and others monitoring to allow for spontaneous resolution(1) ... -
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
(Cell Press, 2018-01-04)Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive ... -
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
(Oxford University Press, 2020-12-05)Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving ... -
Knowledge, skills and attitudes of older people and staff about getting up from the floor following a fall: a qualitative investigation
(BioMed Central, 2020-10-06)Background: Falls are the most common reason for ambulance callouts resulting in non-conveyance. Even in the absence of injury, only half of those who fall can get themselves up off the floor, often remaining there over ... -
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
(Oxford Journals, 2018-12-15)Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction ... -
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
(Endocrine Society, 2015-09)Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected ... -
Langerhans Cell Sarcoma: A Case Report Demonstrating Morphological and Immunophenotypical Variability within a Single Lesion.
(Hindawi, 2017-05)Langerhans cells are antigen presenting dendritic cells and tumours arising from these are rare. The tumours arising from these dendritic cells are divided into two categories according to a WHO classification: Langerhans ... -
LAP-VEGaS Practice Guidelines for Reporting of Educational Videos in Laparoscopic Surgery: A Joint Trainers and Trainees Consensus Statement.
(Wolters Kluwer, 2018-03-05)Consensus statement by an international multispecialty trainers and trainees expert committee on guidelines for reporting of educational videos in laparoscopic surgery. -
Large bowel obstruction in a 27-year-old woman caused by a sigmoid faecal bolus.
(BMJ, 2018-05-14)A 27-year-old woman presented to the emergency department with a 24-hour history of severe left iliac fossa pain associated with vomiting. She reported a history of ovarian cysts and was provisionally diagnosed with a ... -
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates
(Elsevier Science, 2020-08-06)Large copy-number variants (CNVs) are strongly associated with both developmental delay and cancer, but the type of disease depends strongly on when and where the mutation occurred, i.e., germline versus somatic. We used ... -
Large epigenome-wide association study of childhood ADHD identifies peripheral DNA methylation associated with disease and polygenic risk burden
(Nature Publishing Group, 2020-01-21)Epigenetic variation in peripheral tissues is being widely studied as a molecular biomarker of complex disease and disease-related exposures. To date, few studies have examined differences in DNA methylation associated ... -
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
(BMC Med Genet, 2015-11-10)BACKGROUND: The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onset ...