Browsing by Title
Now showing items 2106-2125 of 3493
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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) ... -
Naloxone prescribing: room for finesse
(Mark Allen Group, 2019-03) -
The National Health Service (NHS) in England: Trying to Achieve Value-Based Healthcare
(Springer, 2018-10)The National Health System (NHS) in England allows system-wide control of quality determined at a national level. This chapter brings together the three processes which have been influencing quality and value in spinal ... -
National implementation of reperfusion for acute ischaemic stroke in England: How should services be configured? A modelling study
(Sage, 2022-03-01)OBJECTIVES: To guide policy when planning thrombolysis (IVT) and thrombectomy (MT) services for acute stroke in England, focussing on the choice between 'mothership' (direct conveyance to an MT centre) and 'drip-and-ship' ... -
The National Lung Matrix Trial of personalized therapy in lung cancer
(Nature Publishing Group, 2020-07)The majority of targeted therapies for non-small-cell lung cancer (NSCLC) are directed against oncogenic drivers that are more prevalent in patients with light exposure to tobacco smoke1-3. As this group represents around ... -
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
(Nature, 2021-12-13)Individuals with the three base pair deletion NM_000267.3(NF1):c.2970_2972del p.(Met992del) have been recognised to present with a milder neurofibromatosis type 1 (NF1) phenotype characterised by café-au-lait macules (CALs) ... -
The natural history of pain and neuropathic pain after knee replacement: a prospective cohort study of the point prevalence of pain and neuropathic pain to a minimum three-year follow-up
(Bone Joint Journal, 2014-09-01)A small proportion of patients have persistent pain after total knee replacement (TKR). The primary aim of this study was to record the prevalence of pain after TKR at specific intervals post-operatively and to ascertain ... -
The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with lysosomal storage disorders.
(Springer, 2014-11)Lysosomal storage disorders (LSDs) comprise more than 50 extremely rare, inherited metabolic diseases resulting from a deficiency of specific lysosomal enzymes required for normal macromolecular metabolism. The National ... -
The need to consider renal health in transfusion care and research: leadership and management
(Lambert Academic Publishing, 2016-07) -
Negative pressure wound therapy for burns.
(Elsevier, 2017-07)Negative pressure wound therapy (NPWT) has become a widely used treatment for acute and chronic wounds. NPWT is indicated for a variety of complex wounds, and some studies validate its use for certain aspects of burn care. ... -
Negative-Pressure Wound Therapy for Large Burn Wounds
(Springer, 2018-06) -
Neoadjuvant chemotherapy plus radical cystectomy versus radical cystectomy alone in clinical T2 bladder cancer without hydronephrosis
(Wiley, 2020-11-05)Objectives: To assess the efficacy of neoadjuvant chemotherapy (NAC) before radical cystectomy (RC) in a retrospective multicentre cohort of patients with cT2N0M0 bladder cancer (BCa) without preoperative hydronephrosis. ... -
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
(Springer, 2016-07)The pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell metabolism to insulin secretion. Mutations in KATP channel genes can result in hypo- or hypersecretion of insulin, as in ... -
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
(De Gruyter, 2015-11-01)Neonatal diabetes has not been previously studied in Ukraine. We investigated the genetic etiology in patients with onset of diabetes during the first 9 months of life. -
Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.
(Elsevier, 2021-04-13)Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory ... -
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation
(Galenos, 2018-06)Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations ... -
Neonatal meningitis and maternal sepsis caused by Streptococcus oralis.
(IOS Press, 2018-07-19)A newborn male infant was admitted to the neonatal unit with suspected early onset neonatal sepsis for monitoring and intravenous antibiotics. Despite his initial normal clinical and laboratory parameters, cerebrospinal ... -
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
(Wolters Kluwer, 2022-10-28)OBJECTIVE: KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants. METHODS: We screened 893 ... -
Neurogenic and psychogenic acute postconcussion symptoms can be identified after mild traumatic brain injury.
(Wolters Kluwer, 2013-09)As provenance of postconcussion symptoms after mild traumatic brain injury (mTBI) is controversial, with similar rates found in other populations, we aimed to identify postconcussion symptoms specific to mTBI compared with ...