Specialist Services: Recent submissions
Now showing items 1-20 of 562
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Experiences of people with Parkinson's disease and their views on physical activity interventions: a qualitative systematic review
(Wolters Kluwer, 2019-04)The objective of the review was to synthesize the best available qualitative evidence on the experiences and preferences of people with Parkinson's disease for physical activity, their perceived motivators and barriers to ... -
Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation
(Bioscientifica, 2019-02-11)We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulinaemic hypoglycaemia (CHI) due to a homozygous ABCC8 mutation. A term baby, with birth weight 3.8 kg, born to consanguineous ... -
A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8
(De Gruyter, 2019-03-26)Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic β-cells resulting in hypoglycaemia. Causative mutations in multiple genes have been reported. Phenotypic variability exists ... -
Phenotypic variability in two siblings with monogenic diabetes due to the same ABCC8 gene mutation
(Wiley, 2019-02-07)ABCC8 gene mutations with different inheritance patterns have been well described to cause transient and permanent forms of neonatal diabetes with onset of hyperglycaemia commonly before the age of 6 months, and rare cases ... -
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
(Wiley, 2019-04)DDX3X (Xp11.4) encodes a DEAD-box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X-linked intellectual disability (ID) (MRX102, MIM: 300958). The phenotypes ... -
Percutaneous consolidation of bone metastases: strategies and techniques
(Springer, 2019-02-06)Patients with cancer can present with bone metastases (BM), which are frequently complicated by different types of fractures necessitating prompt management to avoid serious impairment in terms of quality of life and ... -
Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
(Wiley, 2019-01-21)Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, ... -
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
(Wiley, 2019-03)Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have ... -
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 ...