Browsing Specialist Services by Title
Now showing items 701-717 of 717
-
The Value of Coenzyme Q10 Determination in Mitochondrial Patients.
(MDPI, 2017-03-24)Coenzyme Q10 (CoQ) is a lipid that is ubiquitously synthesized in tissues and has a key role in mitochondrial oxidative phosphorylation. Its biochemical determination provides insight into the CoQ status of tissues and may ... -
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
(Wiley, 2015-10)In infants, especially with novel previously undescribed mutations of the KATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second ... -
Variable DNA methylation in neonates mediates the association between prenatal smoking and birth weight
(The Royal Society Publishing, 2019-04-15)There is great interest in the role epigenetic variation induced by non-genetic exposures may play in the context of health and disease. In particular, DNA methylation has previously been shown to be highly dynamic during ... -
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
(Karger, 2015)Neonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations have been shown to cause neonatal ... -
Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.
(Elsevier, 2015-12)In the absence of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDT) are unknown. We aimed to determine whether variants in established candidate genes KCNJ11 and BAD influence response ... -
Video vs direct laryngoscopy: success rates and confidence: a feasibility study
(Stansted News Limited, 2019-09)Video-assisted laryngoscopy (VL) is being used increasingly in adult, paediatric and neonatal populations although its use has not been extensively studied in a neonatal setting. The authors’ experiences on the neonatal ... -
Vitamin K deficiency bleeding after NICE guidance and withdrawal of Konakion Neonatal: British Paediatric Surveillance Unit study, 2006-2008.
(BMJ, 2013-01)To survey vitamin K deficiency bleeding (VKDB) and document vitamin K (VK) prophylaxis practice, and compare with findings predating withdrawal of Konakion Neonatal and guidance from the National Institute of Health and ... -
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
(Cell Press, 2017-07-06)We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five ... -
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
(BMJ, 2014-12-01)BACKGROUND: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such ... -
Why apply for an intercalated research degree?
(LWW, 2017-07)Intercalated degrees are commonly undertaken as part of the medical undergraduate course. In this article, we discuss the advantages and disadvantages of intercalation, along with alternatives that could be considered. -
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
(Elsevier, 2017-12-16)Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially ... -
Women's experiences of personalised support for asthma care during pregnancy: A systematic review of the literature.
(BioMed Central, 2017-02-20)Asthma and pregnancy are both sources of anxiety for women. Although there has been a focus on physiological management of asthma and pregnancy, there has been little research on the impact that personalised support can ... -
Working internationally: challenges and opportunities.
(Mark Allen Group, 2016-11-10)Mel Burden, Infection Prevention and Control Nurse Specialist, Royal Devon and Exeter Hospital, shares her experiences of volunteering as a nurse in Benin and South Africa, and reflects on the professional challenges.