Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling.

UNLABELLED: Hearing loss is a multifaceted condition with many etiologies, among which genetic mutation is. Therefore, it is important to connect audiological investigation to etiological diagnosis. AIM: this study aims to establish the audiological and genetic profiles of three non-syndromic children with sensorineural hearing loss. MATERIALS AND METHOD: three brothers aged 3, 5 and 16 were enrolled in this study. They were submitted to behavioral and electrophysiological hearing tests and molecular studies. RESULTS: the hearing tests showed moderate to moderately severe bilateral symmetric sensorineural hearing loss and an accentuated descending slope. Transient and Distortion Product Otoacoustic emissions were absent in the two younger children. ABR showed a bilateral moderately severe to severe sensorineural hearing loss. P300 showed bilateral normal latencies in the older brother. Molecular tests showed that the two younger children were heterozygote for mutation 35delG on gene GJB2. CONCLUSION: The combination of speech and hearing tests and genetic analysis allows for the etiologic diagnosis of seemingly similar hearing loss cases, which however display different genetic backgrounds. Molecular studies must be comprehensive enough to avoid precipitated diagnosis which may impair genetic counseling.

Positive Effects of a Stress Reduction Program Based on Mindfulness Meditation in Brazilian Nursing Professionals: Qualitative and Quantitative Evaluation.

CONTEXT: Mindfulness meditation has been shown to effectively mitigate the negative effects of stress among nursing professionals, but in countries like Brazil, these practices are relatively unexplored. OBJECTIVE: To evaluate the effects of a Stress Reduction Program (SRP) including mindfulness and loving kindness meditation among nursing professionals working in a Brazilian hospital setting. DESIGN: Pilot study with a mixed model using quantitative and qualitative methods was used to evaluate a group of participants. The quantitative data were analyzed at three different time points: pre-intervention, post-intervention, and follow-up. The qualitative data were analyzed at post-intervention. SETTING: Hospital São Paulo (Brazil). PARTICIPANTS: Sample 13 nursing professionals, including nurses, technicians, and nursing assistants working in a hospital. INTERVENTION: Participants underwent mindfulness and loving kindness meditation during a period of six weeks. INSTRUMENTS: Perceived Stress Scale (PSS), Maslach Burnout Inventory (MBI), Beck Depression Inventory (BDI), State-Trait Anxiety Inventory (STAI), Satisfaction With Life Scale (SWLS), Self-Compassion Scale (SCS), WHOQOL-BREF quality of life assessment, and Work Stress Scale (WSS). Qualitative data were collected via a group interview following six weeks participation in the SRP. RESULTS: The quantitative analyses revealed a significant reduction (P < .05) between pre-intervention and post-intervention scores for perceived stress, burnout, depression, and anxiety (trait). These variables showed no significant differences between post-intervention and follow-up scores. The WHOQOL-BREF revealed significant increase (P < .05) just in the physical and psychological domains at post-intervention scores, which remained at the follow-up. Qualitative results showed improvement in the reactivity to inner experience; a more attentive perception of internal and external experiences; greater attention and awareness of actions and attitudes at every moment; and a positive influence of the SRP in nursing activities.