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Now showing items 405-424 of 600
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p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer.
(Endocrine Society, 2018-03-23)To date, penetrance figures for medullary thyroid cancer (MTC) for variants in RET have been estimated from families ascertained on account of presence of MTC. -
Paediatric procedural sedation using ketamine in a UK emergency department: a 7 year review of practice.
(Oxford Journals, 2016-02-17)Ketamine is growing in popularity for procedural sedation in the paediatric population, yet safety concerns remain. We performed a retrospective review of practice and outcomes of paediatric ketamine sedation using the ... -
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 ... -
Parents as partners in care: Lessons from the Baby Friendly Initiative in Exeter
(Elsevier, 2017-12-06)Neonatal care has changed beyond recognition in the past few decades with advances in technology meaning smaller and sicker babies are surviving more than ever before. Families can sometimes feel they are left watching on ... -
Parents' attitudes toward the use of complementary therapy by their children with moderate or severe cerebral palsy.
(Mary Ann Liebert, 2014-02)To describe the use of, and attitudes toward, complementary therapy (CT) by parents of children with moderate to severe cerebral palsy. -
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 ... -
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
(Springer, 2016-04-12)Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its ... -
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 ... -
Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data
(Elsevier, 2019-08)There is a need to develop and validate biomarkers for treatment response and survival in tubo-ovarian high-grade serous carcinoma (HGSC). The chemotherapy response score (CRS) stratifies patients into complete/near-complete ... -
Patient and public involvement (PPI) in delirium research
(2016-06-01) -
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia.
(BioMed Central, 2007)UK and US policy initiatives have suggested that, in the future, patients and clinicians in mainstream medicine could use genetic information to prevent common illnesses. There are no studies on patients' experience and ... -
Peer support for parents of disabled children part 1: perceived outcomes of a one-to-one service, a qualitative study.
(Wiley, 2015-07)Parents of disabled children are encouraged to seek peer support. Delivering one-to-one support requires resources; therefore, investigating how these services may impact on families and those providing the service is ... -
Peer support for parents of disabled children part 2: how organizational and process factors influenced shared experience in a one-to-one service, a qualitative study.
(Wiley, 2015-07)Parents of disabled children often seek support from their peers. The shared experience between parents appears to be a crucial mediating factor. Understanding how a sense of shared experience is fostered can help to design ... -
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 ... -
Performance of a New Blunt-Tip Coaxial Needle for Percutaneous Biopsy and Drainage of "Hard-To-Reach" Targets.
(Springer, 2017-05-03)To present a new blunt-tip coaxial needle (SoftGuard) applied to access "hard-to-reach" targets undergoing percutaneous image-guided biopsy or drainage. -
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.
(Wiley, 2018-03-09)The basic helix-loop-helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult-onset ... -
Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis.
(Elsevier, 2014-11)Many patients with monogenic diabetes are missed or misclassified. Herein, we report a 28-year-old Indian female who developed diabetes at the age of 3 months. An audit of our type 1 diabetes database led to her genetic ... -
Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment.
(Wiley, 2018-06-13)Permanent neonatal diabetes caused by mutations in the KCNJ11 gene may be managed with high-dose sulfonylureas. Complete transfer to sulfonylureas is not successful in all cases and can result in insulin monotherapy. In ...