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Now showing items 1-20 of 755
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The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort.
(American Diabetes Association, 2014-02)Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of ... -
14 month old boy with abrupt-onset petechiae and bruising
(BMJ, 2019-06-05) -
27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
(Nature, 2018-12-14)There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation ... -
3-phase Technicium-99m bone scanning in patients with pain in the hip region after cemented total hip replacement: a multicentre series of 100 cases.
(Wichtig, 2017-11-21)The aim of this study was to assess the benefit of a Technetium-99M (HDP) 3-phase bone scan (TPBS) as an additional diagnostic test in the evaluation of pain in the hip region following cemented total hip replacement (THR) ... -
A 60 year history of recurrent hypoglycaemia
(BioScientifica, 2018-04-09) -
A randomised, double-blind study investigating the relationship between early childhood trauma and the rewarding effects of morphine.
(Wiley, 2021-06-21)Experiences of childhood trauma (abuse and neglect) are disproportionately higher in those with opioid use disorder (OUD). Childhood trauma may affect the reinforcing and rewarding properties of opioid drugs and responses ... -
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.
(Wolters Kluwer, 2021-04-01) -
Aberrant expression of the S1P regulating enzymes, SPHK1 and SGPL1, contributes to a migratory phenotype in OSCC mediated through S1PR2.
(Nature, 2016-05-10)Oral squamous cell carcinoma (OSCC) is a lethal disease with a 5-year mortality rate of around 50%. Molecular targeted therapies are not in routine use and novel therapeutic targets are required. Our previous microarray ... -
Abiraterone for Prostate Cancer Not Previously Treated with Hormone Therapy.
(New England Journal of Medicine, 2017-07)Abiraterone acetate plus prednisolone improves survival in men with relapsed prostate cancer. We assessed the effect of this combination in men starting long-term androgen-deprivation therapy (ADT), using a multigroup, ... -
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
(Springer, 2002-10)Mutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent ... -
Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5 year pediatric Swedish national cohort study
(American Diabetes Association, 2020-01)Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory ... -
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
(Nature, 2014-08)Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five ... -
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization
(Blood, 2015-01-29)Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations of ACTN1, the gene encoding for alpha-actinin 1, have recently ... -
Adding abiraterone or docetaxel to long-term hormone therapy for prostate cancer: directly randomised data from the STAMPEDE multi-arm, multi-stage platform protocol.
(Oxford Journals, 2018-02-26)Adding abiraterone acetate with prednisolone (AAP) or docetaxel with prednisolone (DocP) to standard-of-care (SOC) each improved survival in STAMPEDE: a multi-arm multi-stage platform randomised controlled protocol recruiting ... -
Addition of docetaxel, zoledronic acid, or both to first-line long-term hormone therapy in prostate cancer (STAMPEDE): survival results from an adaptive, multiarm, multistage, platform randomised controlled trial.
(Elsevier, 2015-12-21)Long-term hormone therapy has been the standard of care for advanced prostate cancer since the 1940s. STAMPEDE is a randomised controlled trial using a multiarm, multistage platform design. It recruits men with high-risk, ... -
Addition of gemcitabine to paclitaxel, epirubicin, and cyclophosphamide adjuvant chemotherapy for women with early-stage breast cancer (tAnGo): final 10-year follow-up of an open-label, randomised, phase 3 trial.
(Elsevier, 2017-06)The tAnGo trial was designed to investigate the potential role of gemcitabine when added to anthracycline and taxane-containing adjuvant chemotherapy for early breast cancer. When this study was developed, gemcitabine had ... -
Adjunctive rifampicin for Staphylococcus aureus bacteraemia (ARREST): a multicentre, randomised, double-blind, placebo-controlled trial.
(Elsevier, 2017-12-14)Staphylococcus aureus bacteraemia is a common cause of severe community-acquired and hospital-acquired infection worldwide. We tested the hypothesis that adjunctive rifampicin would reduce bacteriologically confirmed ... -
Adjunctive rifampicin to reduce early mortality from Staphylococcus aureus bacteraemia: the ARREST RCT.
(NIHR, 2018-10)Staphylococcus aureus bacteraemia is a common and frequently fatal infection. Adjunctive rifampicin may enhance early S. aureus killing, sterilise infected foci and blood faster, and thereby reduce the risk of dissemination, ...