Search results for "transition"
showing 10 items of 3988 documents
Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene
1995
We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 co…
Being cross pressured-parents’ experiences of the transfer from paediatric to adult care services for their young people with long term conditions: A…
2021
BACKGROUND: Family members of young people (13-24 years) with long-term conditions tend to experience multiple challenges when their children transfer from paediatric to adult care, as do the patients themselves.OBJECTIVES: To identify, interpret and theoretically conceptualise the meaning of parents' experiences of the transfer from paediatric to adult care of their young people with long-term conditions.DESIGN: A qualitative research synthesis.DATA SOURCES: We obtained articles from Medline, CINAHL, PsycINFO, EMBASE, Scopus, and Web of Science. Unpublished theses and dissertations were searched for using Google Scholar, Mednar, and ProQuest Dissertations and Theses.REVIEW METHODS: Based o…
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
Young people with long-term health challenges experiences in transition to adulthood: A qualitative metasynthesis
2020
Author's accepted manuscript This is the peer reviewed version of the following article: Rasalingam, A., Fegran, L., Brekke, I. & Helseth, S. (2021). Young people with long-term health challenges experiences in transition to adulthood: A qualitative metasynthesis. Journal of Advanced Nursing, 77(2), 595-607 which has been published in final form at https://doi.org/10.1111/jan.14641. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislati…
Transitional care of young people with juvenile idiopathic arthritis in Italy: results of a Delphi consensus survey
2018
OBJECTIVES: To present the results of a Delphi consensus survey among Italian paediatric and adult rheumatologists on transitional care (TC) of young people (YP) with juvenile idiopathic arthritis (JIA). METHODS: A taskforce of 27 paediatric and adult rheumatologists evaluated the applicability of the 2016 EULAR/PReS recommendations for TC to the Italian rheumatology practice and healthcare system and formulated additional country-specific statements aimed to increase their suitability. After a two-round discussion, applicability of EULAR/PReS recommendations and agreement with newly-proposed statements were voted on a 0-10 scale (where 0 = no applicability/agreement and 10 = total applicab…
Experiences of health care providers in the transfer of adolescent or young adults with a chronic condition from pediatric to adult hospital care: a …
2016
REVIEW QUESTION What are the experiences of physicians and nurses (in this paper defined as health care providers in the transfer of adolescents or young adults with a chronic condition from pediatric to adult hospital care? Specifically, the review will explore the experiences of health care providers in: Preparing adolescents and young adults for their transfer from pediatric to adult care Continuity of care between pediatric and adult care Using standardized procedures to facilitate the adolescents and young adults transfer. OBJECTIVE The objective of this systematic review is to identify and synthesize the best available evidence from qualitative primary studies on the experiences of ph…
Transition Care in Anorexia Nervosa Through Guidance Online from Peer and Carer Expertise (TRIANGLE): Study Protocol for a Randomised Controlled Trial
2017
TRIANGLE is a multicentre trial investigating whether the addition of a novel intervention for patients and carers (ECHOMANTRA) to treatment as usual (TAU) improves outcomes for people with anorexia nervosa (AN). ECHOMANTRA is based on the cognitive interpersonal model of AN and includes assessments, workbooks, videos, online groups and joint Skype sessions for patients and carers. People receiving intensive hospital treatment (N = 380) will be randomised to TAU or TAU plus ECHOMANTRA. Participants will be assessed over an 18-month period following randomisation. The primary outcome is patient psychological well-being at 12 months postrandomisation. Secondary outcomes include (i) patient's …
TUR and Adjuvant Intravesical Chemotherapy in T1G3 Bladder Tumors: Recurrence, Progression and Survival in 137 Selected Patients Followed Up to 20 Ye…
2003
Abstract OBJECTIVES: To evaluate a highly selected population of patients affected by T1G3 bladder transitional cell carcinoma (TCCB) treated by transurethral resection (TUR) and adjuvant intravesical chemotherapy. MATERIALS AND METHODS: Between January 1976 and April 1999, 137 patients with T1G3 TCCB were treated by TUR plus intravesical chemotherapy. Particularly, a sequential combination of mitomycin C (MMC) and epirubicin (EPI) was adopted in 91 patients (66.4%). The main exclusion criteria were concomitant or previous Tis, previous T1G3 TCCB, tumor size greater than 3 centimeters and number of tumors more than 3. TUR was repeated if a superficial tumor recurred. Patients went off study…
Children’s Diet during the Early Stages of the Nutritional Transition. The Foundlings in the Hospital of Valencia (Spain), 1852–1931
2021
The nutritional transition brought about profound changes in the nutrition of the European population in the 19th and 20th centuries. The predominant consumption of cereals gave way to kilocalorie-, protein-, vitamin- and mineral-rich diets that involved a greater intake of animal products. However, not all population groups underwent this transition at the same pace
New Strategy to Reduce the Global Burden of Stroke
2015
The socioeconomic and health effect of stroke and other noncommunicable disorders (NCDs) that share many of the same risk factors with stroke, such as heart attack, dementia, and diabetes mellitus, is huge and increasing.1–4 Collectively, NCDs account for 34.5 million deaths (66% of deaths from all causes)3 and 1344 million disability-adjusted life years lost worldwide in 2010.2 The burden of NCDs is likely to burgeon given the aging of the world’s population and the epidemiological transition currently observed in many low- to middle-income countries (LMICs).5,6 In addition, there is low awareness in the population about these NCDs and their risk factors,7–10 particularly in LMICs.11 These…