Knowledge and Attitudes of two Latino Groups about Alzheimer Disease: a Qualitative Study

Clustering Latinos under a single group in Alzheimer Disease (AD) research, neglects, among other things cultural and environmental differences. To address this, we examine knowledge and attitudes about AD among two Latino groups. We held 5 focus groups and 2 interviews all in Spanish with Mexicans and Puerto Ricans between 40 and 60 years old living in the Grand Rapids area in Michigan. Using content analysis of the discussions, we identified themes related to knowledge, attitudes and concerns about AD and caregiving. A total of 20 Mexicans and 9 Puerto Ricans participated. Improving knowledge and awareness, barriers and home-based family care were important themes in both Latino groups. Puerto Rican groups raised more concerns about the disease, whereas lack of knowledge was a key theme among Mexican participants. The exploratory study is a first step in promoting research that is attentive to the commonalities and differences of Latino groups and in continuing efforts to enhance health literacy among these groups.

     

Comparing longitudinal patient-reported outcome measures between Swedish patients with recent-onset systemic lupus erythematosus and early rheumatoid arthritis

Clinical Rheumatology - The onset of rheumatic disease affects each patient differently and may impact quality of life with progression. We investigated the relationship between patient-reported...     

Efficacy and safety of ixekizumab in patients with active psoriatic arthritis with and without concomitant conventional disease-modifying antirheumatic drugs: SPIRIT-P1 and SPIRIT-P2 3-year results

Clinical Rheumatology - To evaluate the three-year efficacy and safety of ixekizumab with and without concomitant conventional synthetic disease-modifying antirheumatic drug (csDMARD) use in...     

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, have been reported. We performed exome sequencing of 13 schwannomatosis patients from 11 families without SMARCB1 deleterious variants. We identified four individuals with heterozygous loss-of-function variants in LZTR1. Sequencing of the germline of 60 additional patients identified 18 additional heterozygous variants in LZTR1. We identified LZTR1 variants in 43% and 30% of familial (three of the seven families) and sporadic patients, respectively. In addition, we tested LZTR1 protein immunostaining in 22 tumors from nine unrelated patients with and without LZTR1 deleterious variants. Tumors from individuals with LZTR1 variants lost the protein expression in at least a subset of tumor cells, consistent with a tumor suppressor mechanism. In conclusion, our study demonstrates that molecular analysis of LZTR1 may contribute to the molecular characterization of schwannomatosis patients, in addition to NF2 mutational analysis and the detection of chromosome 22 losses in tumor tissue. It will be especially useful in differentiating schwannomatosis from mosaic Neurofibromatosis type 2 (NF2). However, the role of LZTR1 in the pathogenesis of schwannomatosis needs further elucidation.     

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

Facioscapulohumeral muscular dystrophy 1 (FSHD1) is caused by a contraction in the number of D4Z4 repeats on chromosome 4, resulting in relaxation of D4Z4 chromatin causing inappropriate expression of DUX4 in skeletal muscle. Clinical severity is inversely related to the number of repeats. In contrast, FSHD2 patients also have inappropriate expression of DUX4 in skeletal muscle, but due to constitutional mutations in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), which cause global hypomethylation and hence general relaxation of chromatin. Thirty patients originally referred for FSHD testing were screened for SMCHD1 mutations. Twenty-nine had >11 D4Z4 repeats. SMCHD1 c.1040+1G>A, a pathogenic splice-site variant, was identified in a FSHD1 family with a borderline number of D4Z4 repeats (10) and a variable phenotype (in which a LMNA1 sequence variant was previously described), and SMCHD1 c.2606 G>T, a putative missense variant (p.Gly869Val) with strong in vitro indications of pathogenicity, was identified in a family with an unusual muscular dystrophy with some FSHD-like features. The two families described here emphasise the genetic complexity of muscular dystrophies. As SMCHD1 has a wider role in global genomic methylation, the possibility exists that it could be involved in other complex undiagnosed muscle disorders. Thus far, only 15 constitutional mutations have been identified in SMCHD1, and these two sequence variants add to the molecular and phenotypic spectrum associated with FSHD.     

Impact of an Evidence-Based Medicine Curriculum on Resident Use of Electronic Resources: A Randomized Controlled Study

Background  Evidence-based medicine (EBM) is widely taught in residency, but evidence for effectiveness of EBM teaching on changing residents’ behavior is limited. Objective  To investigate the impact of an EBM curriculum on residents’ use of evidence-based resources in a simulated clinical experience. Design/Participants  Fifty medicine residents randomized to an EBM teaching or control group. Measurements  A validated test of EBM knowledge (Fresno test) was administered before and after intervention. Post intervention, residents twice completed a Web-based, multiple-choice instrument (15 items) comprised of clinical vignettes, first without then with access to electronic resources. Use of electronic resources was tracked using ProxyPlus software. Within group pre–post differences and between group post-test differences were examined. Results  There was more improvement in EBM knowledge (100-point scale) for the intervention group compared to the control group (mean score increase 22 vs. 12, p = 0.012). In the simulated clinical experience, the most commonly accessed resources were Ovid (71% of residents accessed) and InfoPOEMs (62%) for the EBM group and UptoDate (67%) and MDConsult (58%) for the control group. Residents in the EBM group were more likely to use evidence-based resources than the control group. Performance on clinical vignettes was similar between the groups both at baseline (p = 0.19) and with access to information resources (p = 0.89). Conclusions  EBM teaching improved EBM knowledge and increased use of evidence-based resources by residents, but did not improve performance on Web-based clinical vignettes. Future studies will need to examine impact of EBM teaching on clinical outcomes.