Specialist Services: Recent submissions
Now showing items 1-20 of 554
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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
(Nature, 2019-01-08)The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. ... -
The link between surgical site infection and traffic flow in the operating theatre.
(Mark Allen Group, 2019-01-10) -
Response to Prakash et al.
(Nature, 2018-12-21) -
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
(Oxford Academic, 2019-01-01)Physical stress, including high temperatures, may damage the central metabolic nicotinamide nucleotide cofactors [NAD(P)H], generating toxic derivatives [NAD(P)HX]. The highly conserved enzyme NAD(P)HX dehydratase (NAXD) ... -
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 ... -
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 ... -
Bile acid metabolism is altered in those with insulin resistance after gestational diabetes mellitus.
(Elsevier, 2018-11-30)Bile acids (BAs) are known mediators of glucose metabolism that are altered in type 2 diabetes mellitus (T2DM) and gestational diabetes mellitus (GDM). We hypothesised that post-prandial BA fractions are changed in women ... -
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
(Wellcome, 2018-10)Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed ... -
Interactions Between Pseudomonas Immunotoxins and the Plasma Membrane: Implications for CAT-8015 Immunotoxin Therapy
(Frontiers in Oncology, 2018-11-08)Acute Lymphoblastic Leukaemia (ALL) remains the most frequent cause of cancer-related mortality in children and novel therapies are needed for the treatment of relapsed/refractory childhood ALL. One approach is the targeting ... -
Providing information early in the clinical pathway for people with prostate cancer
(RCNi, 2018-11-05)The National Cancer Survivorship Initiative recommends offering health and well-being clinics to people who have been newly diagnosed with cancer. Evidence suggests delivery of group information is an effective use of ... -
Quantifying the contribution of recessive coding variation to developmental disorders.
(Science, 2018-11-08)We estimated the genome-wide contribution of recessive coding variation from 6,040 families from the Deciphering Developmental Disorders study. The proportion of cases attributable to recessive coding variants was 3.6% in ... -
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia
(Galenos, 2018-07)Sirolimus has been reported to be effective in the treatment of the diffuse form of congenital hyperinsulinism (CHI), unresponsive to diazoxide and octreotide, without causing severe side effects. Two newborns with CHI due ... -
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
(Nature, 2018-11)Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a ... -
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.
(Frontiers in Endocrinology, 2018-10-17)Background: Congenital Hyperinsulinism (CHI) is an important cause of severe and persistent hypoglycaemia in infancy and childhood. The focal form (CHI-F) of CHI can be potentially cured by pancreatic lesionectomy. While ... -
Implementation of paediatric pain care-bundle across South-West England clinical network of Emergency Departments and Minor Injury Units: A before and after study.
(Elsevier, 2018-10-29)Pain management in children is often poorly executed in Emergency Departments and Minor Injury Units. The aim of this study was to assess the impact of a care bundle comprising targeted education on pain score documentation ... -
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, ... -
Parent-to-parent support interventions for parents of babies cared for in a neonatal unit-protocol of a systematic review of qualitative and quantitative evidence.
(BioMed Central, 2018-10-31)Parents of babies admitted to neonatal units experience an arduous emotional journey. Feelings of helplessness, fear, sadness, guilt, grief and anger are common. These feelings can lead to anxiety, depression and post-traumatic ...