Specialist Services: Recent submissions
Now showing items 1-20 of 587
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"They've walked the walk": a systematic review of quantitative and qualitative evidence for parent-to-parent support for parents of babies in neonatal care
(Elsevier, 2019-04-18)The aim of this systematic review was to explore the effects and experiences of parent-to-parent support in neonatal intensive care from the perspectives of those giving, receiving, or implementing support. Electronic ... -
Renal nurses' lived experiences of discussions about sexuality
(Mark Allen Group, 2019-03)Renal teams focus predominantly on renal replacement therapy and physical symptom management, rather than psychological issues, such as mental health, body image or self-esteem. This study aims to increase understanding ... -
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd
(Elsevier, 2019-04-23)Heterotaxy and congenital heart defects associated with pathogenic variants in the PKD1L1 gene (autosomal visceral heterotaxy type 8, MIM 617205) has been reported in only four individuals from three unrelated families. ... -
A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
(Cell Press, 2019-05)We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar ... -
Pathogenic variants in GPC4 cause Kelpert Syndrome
(Cell Press, 2019-05)Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the ... -
Modelling the pathological long-range regulatory effects of human structural variation with patient-specific hiPSCs
(Cell Press, 2019-05)The pathological consequences of structural variants disrupting 3D genome organization can be difficult to elucidate in vivo due to differences in gene dosage sensitivity between mice and humans. This is illustrated by ... -
Type 1 diabetes defined by severe insulin deficiency occurs after 30 years of age and is commonly treated as type 2 diabetes
(Springer, 2019-07)Late-onset type 1 diabetes can be difficult to identify. Measurement of endogenous insulin secretion using C-peptide provides a gold standard classification of diabetes type in longstanding diabetes that closely relates ... -
Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated
(American Diabetes Association, 2019-04)Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have ... -
Persistent C-peptide is associated with reduced hypoglycaemia but not HbA1c in adults with longstanding Type 1 diabetes: evidence for lack of intensive treatment in UK clinical practice?
(Wiley, 2019-04)Most people with Type 1 diabetes have low levels of persistent endogenous insulin production. The Diabetes Control and Complications Trial showed that close to diagnosis preserved endogenous insulin was associated with ... -
How can ways of working with others be developed to improve perinatal mental health care?
(Mark Allen Group, 2019-03)There is a national drive to improve perinatal mental healthcare, as a significant proportion of maternal deaths are attributed to mental health problems. This report will evaluate how ways of working with others could be ... -
Stability of urinary albumin and creatinine after 12 months storage at -20 °C and -80 °C.
(Elsevier, 2019-03-22)Increasing albumin to creatinine ratio (ACR) within the normal range is a risk factor for cardiovascular disease in the general population. Clinical and epidemiological studies often store urine samples for long durations ... -
Three biomarker tests to help diagnose preterm labour: a systematic review and economic evaluation
(NIHR, 2019-03)Preterm birth may result in short- and long-term health problems for the child. Accurate diagnoses of preterm births could prevent unnecessary (or ensure appropriate) admissions into hospitals or transfers to specialist units. -
Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study
(Endocrine Society, 2019-02)Sirolimus, a mammalian target of rapamycin inhibitor, has been used in congenital hyperinsulinism (CHI) unresponsive to diazoxide and octreotide. Reported response to sirolimus is variable, with high incidence of adverse ... -
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome
(Wiley, 2019-06)Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, ... -
Electronic remote blood issue supports efficient and timely supply of blood and cost reduction: evidence from five hospitals at different stages of implementation
(Wiley, 2019-05)This multicenter international study evaluated electronic remote blood issue (ERBI) for blood unit collection in hospitals. -
The association between GAD65 antibody levels and incident Type 2 Diabetes Mellitus in an adult population: a meta-analysis
(Elsevier, 2019-06)CONTEXT: Antibodies to the 65 kD isoform of glutamic acid decarboxylase (GAD65) have been associated with incident Type 2 Diabetes Mellitus, however results are inconsistent. OBJECTIVE: To assess the association between ...