A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

We have studied 36 subjects in a large multigenerational Chinese family that is segregating for an autosomal dominant adult onset form of progressive non-syndromic hearing loss. All affected subjects had bilateral sensorineural hearing loss involving all frequencies with some significant gender differences in initial presentation. After excluding linkage to known loci for non-syndromic deafness, we used the Center for Inherited Disease Research (CIDR) to test for 351 polymorphic markers distributed at approximately 10 cM intervals throughout the genome. Analysis of the resulting data provided evidence that the locus designated DFNA41 maps to a 15 cM region on chromosome 12q24.32-qter, proximal to the marker D12S1609. A maximum two point lod score of 6.56 at theta=0.0 was obtained for D12S343. This gene is distal to DFNA25, a previously identified locus for dominant adult onset hearing loss that maps to 12q21-24. Positional/functional candidate genes in this region include frizzled 10, epimorphin, RAN, and ZFOC1.     

Pilot Implementation of Computerized Cognitive Behavioral Therapy in a University Health Setting

This study evaluated the implementation of computerized cognitive-behavioral therapy (cCBT) for depression and anxiety in a university health center. Students reporting symptoms of depression and/or anxiety were offered cCBT and randomized to a session email reminder or no-reminder condition. Participants reported significant symptom and functional improvement after receiving treatment, comparable to outcomes achieved in controlled efficacy trials. However, rates of session completion were low, and reminders did not enhance retention. Results suggest that cCBT is a promising intervention in this population, with little attenuation of gains relative to efficacy trials but low levels of treatment completion.     

The Association of Body Mass Index with Postoperative Outcomes After Elective Paraesophageal Hernia Repair

Purpose

To evaluate the association between body mass index (BMI) and postoperative outcomes in elective paraesophageal hernia (PEH) repairs.

Methods

A retrospective review of patients who underwent elective PEH repair in the ACS NSQIP database (2005–2015) was performed. Patients were stratified into BMI groups (<?18.5, 18.5–24.9, 25.0–29.9, 30.0–34.9, 35–39.9, and ≥?40.0 kg/m²) according to the World Health Organization classification criteria. A multivariable logistic regression model was developed to characterize the association between BMI class and outcomes, including readmission, reoperation, postoperative complications, and mortality.

Results

The median (IQR) age of the 9641 patients who met inclusion criteria was 64 (55–72) and 72.7% were women. Across each BMI class, age, race, gender, type of procedure, frailty index, smoking, and ASA class varied (p?<?0.05). Underweight patients (BMI <?18.5 kg/m²) had an increased risk of mortality (OR?=?6.35, p?<?0.05). Patients with a BMI 35–39.9 kg/m² (OR?=?0.65, p?<?0.05) and ≥?40 kg/m² (OR?=?0.36, p?<?0.001) were associated with a decreased risk for readmissions.

Conclusion

Underweight patients have an increased risk for postoperative mortality after elective PEH repair. Higher BMI was associated with a diminished risk for readmission, but not for mortality, reoperations, or overall complications.

     

Evaluation of a Therapeutic Community Treatment Program: A Long-Term Follow-up Study in Spain

The aims of this study is to carry out a long-term follow-up evaluation of a well-established therapeutic community treatment for addictions in Navarre (Spain) and to make a comparison between the program completers and the dropouts, as well as between relapsing and nonrelapsing patients, on a broad set of variables. A long-term follow-up design (mean of 6 years after leaving treatment) was used to analyze the outcomes of the therapeutic program. The sample consisted of 155 subjects (113 completers and 42 dropouts). A personal interview was carried out with each one of the located subjects. The interviews took place between September 2000 and September 2004. Treatment “dropouts” manifested a higher and earlier rate both of relapses, and of new treatments for their drug addiction than the completion group. The program was also effective in reducing criminal behavior and improving the state of health. Significant differences were found across outcome variables when comparison was made between treatment completers and “dropouts.” All subjects improved on outcome variables after receiving the treatment. When relapsing and nonrelapsing patients were compared, significant outcome differences were also found between groups. The study's limitations are noted and future needed research is suggested.