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Now showing items 1668-1687 of 3226
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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 ... -
L1CAM variants cause two distinct imaging phenotypes on fetal MRI
(Wiley, 2021-09-12)Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed ... -
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 histiocytosis in a 5-month-old baby.
(Canadian Medical Association, 2021-01-04) -
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. -
Laparoscopic partial splenectomy using the harmonic scalpel for parenchymal transection: two case reports and review of the literature
(0, 2021-04-30)Laparoscopic splenectomy is nowadays widely performed for the treatment of benign and malignant diseases of the spleen. However, removing the spleen increases the risk of postoperative infections, therefore patients need ... -
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 ...