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Now showing items 656-675 of 717
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Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
(Elsevier, 2014-09-01)BACKGROUND: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of ... -
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
(Wellcome, 2018-04)Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive ... -
Teaching classroom management ? a potential public health intervention?
(Emerald, 2015-06)The purpose of this paper is to explore the feasibility of a classroom management course as a public health intervention. Improved socio-emotional skills may boost children’s developmental and academic trajectory, while ... -
Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care
(Clinical Medicine, 2014-04-01)Increasing technological advances have resulted in the recognition of a range of genetic conditions not traditionally seen by clinical genetics teams. This has implications for the education of other healthcare professionals ... -
Ten-Year Results of FAST: A Randomized Controlled Trial of 5-Fraction Whole-Breast Radiotherapy for Early Breast Cancer
(Atypon, 2020-10-01)Purpose: Previous studies of hypofractionated adjuvant whole-breast radiotherapy for early breast cancer established a 15- or 16-fraction (fr) regimen as standard. The FAST Trial (CRUKE/04/015) evaluated normal tissue ... -
Tests aiding diagnosis of monogenic diabetes
(Wiley, 2017-07-10) -
"They've walked the walk": a systematic review of quantitative and qualitative evidence for parent-to-parent support for parents of babies in neonatal care
(Elsevier, 2019-04-18)The aim of this systematic review was to explore the effects and experiences of parent-to-parent support in neonatal intensive care from the perspectives of those giving, receiving, or implementing support. Electronic ... -
Three biomarker tests to help diagnose preterm labour: a systematic review and economic evaluation
(NIHR, 2019-03)Preterm birth may result in short- and long-term health problems for the child. Accurate diagnoses of preterm births could prevent unnecessary (or ensure appropriate) admissions into hospitals or transfers to specialist units. -
Three cases of Wolfram syndrome with different clinical aspects.
(De Gruyter, 2015-03)Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. -
Time to change the HbA1c cut-off for prediabetes
(Wiley, 2016-03-01) -
Top ten concerns burdening people with cancer: Perceptions of patients with cancer and the nurses caring for them.
(Elsevier, 2018-04)We examined the concerns that nurses perceive patients to have, whether these are congruent with patients' concerns and whether they vary according to cancer site. We also examined Distress Thermometer scores according to ... -
Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31)
(Wolters Kluwer, 2015-07-01) -
Total parenteral nutrition in the pleural space.
(BMJ, 2018-09-28) -
The Trainability of Adolescent Soccer Players to Brief Periodized Complex Training.
(Human Kinetics Journals, 2018-02-12)Τo investigate the effect of a complex, short-term strength/power training protocol on performance and body composition of elite early-adolescent soccer players. -
Trainee doctors' experiences of common problems in the antibiotic prescribing process: an activity theory analysis of narrative data from UK hospitals
(BMJ, 2019-06)Prescribing antibiotics is an error-prone activity and one of the more challenging responsibilities for doctors in training. The nature and extent of challenges experienced by them at different stages of the antibiotic ... -
Treatment demands and differential treatment of patients with cystic fibrosis and their siblings: patient, parent and sibling accounts.
(Wiley, 2001-07)Cystic fibrosis (CF) is a progressive disease with no known cure. Advances in diagnosis and treatment have resulted in patients living longer and thus families live with the illness for longer. Treatments are becoming ... -
Trial baseline characteristics of a cluster randomised controlled trial of a school-located obesity prevention programme; the Healthy Lifestyles Programme (HeLP) trial.
(BioMed Central, 2017-04-04)We have developed a healthy lifestyles programme (HeLP) for primary school aged children (9-10 years), currently being evaluated in a definitive cluster randomised controlled trial. This paper descriptively presents the ... -
Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated
(American Diabetes Association, 2019-04)Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have ... -
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy
(Wiley, 2015-11-03)BACKGROUND: A syndrome of young-onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been ... -
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
(Wiley, 2018-09)Transient receptor potential vanilloid 6 (TRPV6) functions in tetramer form for calcium transport. Until now, TRPV6 has not been linked with skeletal development disorders. An infant with antenatal onset thoracic insufficiency ...