The theoretical and practical determination of clinical cut-offs for the British Sign Language versions of PHQ-9 and GAD-7.

Background: The PHQ-9 and the GAD-7 assess depression and anxiety respectively. There are standardised, reliability-tested versions in BSL (British Sign Language) that are used with Deaf users of the IAPT service. The aim of this study is to determine their appropriate clinical cut-offs when used with Deaf people who sign and to examine the operating characteristics for PHQ-9 BSL and GAD-7 BSL with a clinical Deaf population.

A qualitative exploration of trial-related terminology in a study involving Deaf British Sign Language users.

Background: Internationally, few clinical trials have involved Deaf people who use a signed language and none have involved BSL (British Sign Language) users. Appropriate terminology in BSL for key concepts in clinical trials that are relevant to recruitment and participant information materials, to support informed consent, do not exist. Barriers to conceptual understanding of trial participation and sources of misunderstanding relevant to the Deaf community are undocumented.

Translation, validity and reliability of the British Sign Language (BSL) version of the EQ-5D-5L.

Purpose: To translate the health questionnaire EuroQol EQ-5D-5L into British Sign Language (BSL), to test its reliability with the signing Deaf population of BSL users in the UK and to validate its psychometric properties.

Methods: The EQ-5D-5L BSL was developed following the international standard for translation required by EuroQol, with additional agreed features appropriate to a visual language. Data collection used an online platform to view the signed (BSL) version of the tests.

Interventions to improve patient access to and utilisation of genetic and genomic counselling services.

Unlabelled: This is the protocol for a review and there is no abstract. The objectives are as follows.

Primary Objective: The primary objective is to assess the effectiveness of interventions to improve patient identification, access to and utilisation of genetic and genomic counselling services when compared to: No intervention;Usual or current practice; andOther active intervention.

Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer.

Purpose: No formal assessment of life expectancy in women with BRCA1 and BRCA2 mutations in these genes has been reported previously. We have evaluated life expectancy using actuarial analysis and assessed the effect of breast and ovarian cancers on premature death in >1,000 BRCA1/2 carriers.

Methods: Families with pathogenic mutations in BRCA1 and BRCA2 have been ascertained in a 10-million population region of United Kingdom since 1996.

Mutation analyses of Uroplakin II in children with renal tract malformations.

Background: Uroplakin (UP) proteins cover urothelial apical surfaces. Mice lacking UPIIIa have elevated urothelial permeability and congenital renal tract anomalies, and UPIIIa mutations have been reported in children with kidney and ureter malformations. Mice with null mutation of another UP family member, UPII, are often born with congenital hydronephrosis.

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

Human renal adysplasia usually occurs sporadically, and bilateral disease is the most common cause of childhood end-stage renal failure, a condition that is lethal without intervention using dialysis or transplantation. De novo heterozygous mutations in Uroplakin IIIa (UPIIIa) are reported in four of 17 children with kidney failure caused by renal adysplasia in the absence of an overt urinary tract obstruction. One girl and one boy in unrelated kindreds had a missense mutation at a CpG dinucleotide in the cytoplasmic domain of UPIIIa (Pro273Leu), both of whom had severe vesicoureteric reflux, and the girl had persistent cloaca; two other patients had de novo mutations in the 3' UTR (963 T-->G; 1003 T-->C), and they had renal adysplasia in the absence of any other anomaly.

BRCA1/2 predictive testing: a study of uptake in two centres.

Differences in reported uptake of genetic testing for mutations in BRCA1 and BRCA2 can largely be accounted for by different methodologies and by studying research vs nonresearch families. In our joint study of 75 nonresearch families from two UK centres in which at least 3 years had elapsed since the initial proband had been informed of the availability of testing, only 45 and 34% of eligible individuals from Manchester and London, respectively, had come forward for counselling. Final uptake rates using a non-proactive approach were 53 and 29% for women and 11-12% for men, but the figure among those attending clinic was 73 and 62%, respectively.