Role of ATP10B in Parkinson disease in a cohort from southern Spain.

The ATP10B gene has been proposed to play an important role in the development of early-onset Parkinson's disease (PD). Nevertheless, various studies have presented controversial conclusions regarding the involvement of this gene in PD. Here, we screened 1162 patients with PD, employing a targeted resequencing approach to investigate the putative relevance of this gene in a large independent cohort of these patients from southern Spain. Variations were classified according to the American College of Medical Genetics and Genomics criteria. Association studies were performed using data of a representative healthy Spanish population from the Medical Genome Project. Frequent variants were excluded. A total of 68 variants (rare or very rare) were detected in our cohort. Among ATP10B variant carriers, 12.9 % were putative compound heterozygous carriers; of these, 25 % were patients with early-onset PD. No evidence of a relation between any rare variants of ATP10B and PD risk was observed. Therefore, our results do not support a role for ATP10B in the onset of PD, or in the risk of developing it.

Knowledge about COVID-19 and vaccine acceptability among priority groups defined for vaccination: A cross-sectional study in Araba/Alava, Spain, before the vaccination against SARS-CoV-2.

Background: The acceptability of COVID-19 vaccine varies depending on the time, place, type of vaccine and information available at the time. Knowledge of attitudes and practices towards COVID-19 among the population at high risk of developing the disease would help to tailor the strategy to improve adherence to vaccination recommendations. Aim: To analyze the willingness, knowledge and risk perception of patients and health care workers (HCW) to get the vaccines against SARS-CoV-2. Methods: Cross-sectional survey in Araba/Álava province (Spain). Subjects who met the criteria for the influenza vaccination in 2019 and HCWS from the Basque Public Health Service were included. The participants answered a questionnaire on the knowledge, attitudes and practices towards COVID-19 before starting vaccination against SARS-CoV-2. The intention to vaccinate was compared using the chi-squared test. Results: 316 HCWs and 389 patients responded to the survey. Around 90% of the patients and 80% of HCW would accept vaccination in all scenarios according to the questionnaire (p < 0.001). Only 3-12% hesitated about the COVID-19 vaccines. Compared to 40-70% of patients, 60-80% of HCWs perceived a high risk of COVID-19 (p < 0.001). Statistically significant differences were found in 10 of the 17 questions regarding the mechanism of transmission and symptoms. Conclusion: HCWs had a better knowledge and risk perception of COVID-19 than the surveyed patients. They had a higher proportion of hesitancy to get COVID-19 vaccine, probably related to doubts about the effectiveness of the new vaccines and the scientific evidence.

Natural Course of the Diffusing Capacity of the Lungs for Carbon Monoxide in COPD: Importance of Sex.

BACKGROUND: The value of the single-breath diffusing capacity of the lungs for carbon monoxide (Dlco) relates to outcomes for patients with COPD. However, little is known about the natural course of Dlco over time, intersubject variability, and factors that may influence Dlco progression. RESEARCH QUESTION: What is the natural course of Dlco in patients with COPD over time, and which other factors, including sex differences, could influence this progression? STUDY DESIGN AND METHODS: We phenotyped 602 smokers (women, 33%), of whom 506 (84%) had COPD and 96 (16%) had no airflow limitation. Lung function, including Dlco, was monitored annually over 5 years. A random coefficients model was used to evaluate Dlco changes over time. RESULTS: The mean (± SE) yearly decline in Dlco % in patients with COPD was 1.34% ± 0.015%/y. This was steeper compared with non-COPD control subjects (0.04% ± 0.032%/y; P = .004). Sixteen percent of the patients with COPD, vs 4.3% of the control subjects, had a statistically significant Dlco % slope annual decline (4.14%/y). At baseline, women with COPD had lower Dlco values (11.37% ± 2.27%; P < .001) in spite of a higher FEV1 % than men. Compared with men, women with COPD had a steeper Dlco annual decline of 0.89% ± 0.42%/y (P = .039). INTERPRETATION: Patients with COPD have an accelerated decline in Dlco compared with smokers without the disease. However, the decline is slow, and a testing interval of 3 to 4 years may be clinically informative. The lower and more rapid decline in Dlco values in women, compared with men, suggests a differential impact of sex in gas exchange function. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT01122758; URL: www.clinicaltrials.gov.

Non-invasive ventilation in obesity hypoventilation syndrome without severe obstructive sleep apnoea.

BACKGROUND: Non-invasive ventilation (NIV) is an effective form of treatment in patients with obesity hypoventilation syndrome (OHS) who have concomitant severe obstructive sleep apnoea (OSA). However, there is a paucity of evidence on the efficacy of NIV in patients with OHS without severe OSA. We performed a multicentre randomised clinical trial to determine the comparative efficacy of NIV versus lifestyle modification (control group) using daytime arterial carbon dioxide tension (PaCO2) as the main outcome measure. METHODS: Between May 2009 and December 2014 we sequentially screened patients with OHS without severe OSA. Participants were randomised to NIV versus lifestyle modification and were followed for 2 months. Arterial blood gas parameters, clinical symptoms, health-related quality of life assessments, polysomnography, spirometry, 6-min walk distance test, blood pressure measurements and healthcare resource utilisation were evaluated. Statistical analysis was performed using intention-to-treat analysis. RESULTS: A total of 365 patients were screened of whom 58 were excluded. Severe OSA was present in 221 and the remaining 86 patients without severe OSA were randomised. NIV led to a significantly larger improvement in PaCO2 of -6 (95% CI -7.7 to -4.2) mm Hg versus -2.8 (95% CI -4.3 to -1.3) mm Hg, (p<0.001) and serum bicarbonate of -3.4 (95% CI -4.5 to -2.3) versus -1 (95% CI -1.7 to -0.2 95% CI)  mmol/L (p<0.001). PaCO2 change adjusted for NIV compliance did not further improve the inter-group statistical significance. Sleepiness, some health-related quality of life assessments and polysomnographic parameters improved significantly more with NIV than with lifestyle modification. Additionally, there was a tendency towards lower healthcare resource utilisation in the NIV group. CONCLUSIONS: NIV is more effective than lifestyle modification in improving daytime PaCO2, sleepiness and polysomnographic parameters. Long-term prospective studies are necessary to determine whether NIV reduces healthcare resource utilisation, cardiovascular events and mortality. TRIAL REGISTRATION NUMBER: NCT01405976; results.

[Impact of the Core Training Law on preventive medicine and public health training and other common medical specialties]. / Impacto del Real Decreto de la Troncalidad en la formación en medicina preventiva y salud pública y en otras especialidades del tronco común médico.

OBJECTIVE: The purpose of the Core Training Law (CTL) is to amend specialised medical training to include 24 months of common training. The aim of this study is to assess its potential impact on the Preventive Medicine and Public Health (PM&PH) training programme and other medical specialties. METHOD: The programmes of the 21 common medical specialties were analysed and the recommended training periods for each specialty collected, before the information was agreed upon by three observers. The training impact was calculated as the percentage of months that should be amended per specialty to adapt to the common training schedule. RESULTS: The Preventive Medicine and Public Health training programme is the specialty most affected by the Core Training Law (100%, 24 months). Intensive medicine (0%, 0 months) and medical oncology (17%, 4 months) is the least affected. CONCLUSIONS: The CTL affects the common medical specialties in different ways and requires a complete reorganisation of the activities and competencies of PM&PH professionals.