Rabbit Anti-Human CLIP2 (a.a. 901-1046) Polyclonal antibody

Background Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations mainly characterised by vascular stenoses, distinctive craniofacial features, mental retardation with a characteristic neurocognitive profile, and some endocrine and connective tissue abnormalities, caused by a recurrent deletion of 1.55 Mb including 26e28 genes at chromosomal region 7q11.23. The analysis of clinical-molecular correlations in a few reported atypical patients has been useful to propose several deleted genes as main contributors to specific aspects of the WBS phenotype. Patients and methods Two additional families with partial phenotypes and atypical 7q11.23 deletions were studied. Deletions were precisely defined at the nucleotide level, and the expression levels of some affected and flanking genes were assessed in lymphoblastoid cell lines. Results Affected individuals presented variable cardiovascular and connective tissue manifestations, subtle craniofacial features, normal visuospatial construction abilities with low average IQ and no endocrine abnormalities. The deletion in family NW1 encompassed 817 kb with 11 genes (CLDN3-GTF2IRD1), and 610 kb with 14 genes (VPS37D-RFC2) in family NW2. All deleted genes in typical and atypical deletions revealed low expression levels in lymphoblastoid cell lines, except for GTF2IRD1. CLIP2 was also underexpressed in all patients despite being outside the deletion in NW2, while no other flanking non-deleted gene showed significantly different expression compared to controls. Conclusions Along with previously reported cases, clinical-molecular correlations in these two families further confirm that the functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of WBS.

Background and aims Despite the over-representation of people with gambling problems in mental health populations, there is limited information available to guide the selection of brief screening instruments within mental health services. The primary aim was to compare the classification accuracy of nine brief problem gambling screening instruments (two to five items) with a reference standard among patients accessing mental health services. Design The classification accuracy of nine brief screening instruments was compared with multiple cut-off scores on a reference standard. Setting Eight mental health services in Victoria, Australia. Participants A total of 837 patients were recruited consecutively between June 2015 and January 2016. Measurements The brief screening instruments were the Lie/Bet Questionnaire, Brief Problem Gambling Screen (BPGS) (two- to five-item versions), NODS-CLiP, NODS-CLiP2, Brief Biosocial Gambling Screen (BBGS) and NODS-PERC. The Problem Gambling Severity Index (PGSI) was the reference standard. Findings The five-item BPGS was the only instrument displaying satisfactory classification accuracy in detecting any level of gambling problem (low-risk, moderate-risk or problem gambling) (sensitivity=0.803, specificity=0.982, diagnostic efficiency=0.943). Several shorter instruments adequately detected both problem and moderate-risk, but not low-risk, gambling: two three-item instruments (NODS-CLiP, three-item BPGS) and two four-item instruments (NODS-PERC, four-item BPGS) (sensitivity=0.854-0.966, specificity=0.901-0.954, diagnostic efficiency=0.908-0.941). The four-item instruments, however, did not provide any considerable advantage over the three-item instruments. Similarly, the very brief (two-item) instruments (Lie/Bet and two-item BPGS) adequately detected problem gambling (sensitivity=0.811-0.868, specificity=0.938-0.943, diagnostic efficiency=0.933-0.934), but not moderate-risk or low-risk gambling. Conclusions The optimal brief screening instrument for mental health services wanting to screen for any level of gambling problem is the five-item Brief Problem Gambling Screen (BPGS). Services wanting to employ a shorter instrument or to screen only for more severe gambling problems (moderate-risk/problem gambling) can employ the NODS-CLiP or the three-item BPGS. Services that are only able to accommodate a very brief instrument can employ the Lie/Bet Questionnaire or the two-item BPGS.