RESUMO
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the acid α-glucosidase (GAA) enzyme. GAA deficiency induces progressive glycogen accumulation which leads to weakness of the respiratory muscle including the diaphragm. Pompe disease is one of the few myopathies, for which an established therapy is available. Thus, earlier detection of potential late-onset Pompe disease (LOPD) and earlier intervention would have a significant clinical impact. PURPOSE: Our hypothesis is that sleep problems including sleep disordered breathing (SDB) and clinical symptoms may indicate an early stage of LOPD since decreased respiratory muscle activity generally first presents during sleep. Thus, the aims of this prospective, multicenter observational cohort study in Japan (PSSAP-J) are to demonstrate a higher prevalence of LOPD in a sleep lab-based population (primary outcome), and to identify predictive factors for LOPD from findings in diagnostic polysomnography (PSG) and clinical symptoms (secondary outcomes). METHODS: The study design is a prospective multicenter observational cohort study. Consecutive patients who present to sleep labs due to suspected SDB for an overnight PSG will be enrolled. All patients will be measured for creatine kinase, GAA activity, and if necessary, genetic analysis of GAA. Furthermore, chest X-ray, pulmonary function test, and arterial blood gas analysis will be collected. Then, prevalence and specific findings of LOPD will be assessed. RESULT: Congenital myopathy shows a shift from slow-deep to rapid-shallow breathing during transition from wakefulness to sleep accompanying a symptom of waking with gasping (actual further results are pending). DISCUSSION: The distribution in respiratory physiology between during wakefulness and sleep specific to LOPD may provide insights into early-stage detection. CLINICAL TRIAL REGISTRATION NUMBER: UMIN000039191, UMIN Clinical Trials Registry ( http://www.umin.ac.jp/ctr ).
Assuntos
Doença de Depósito de Glicogênio Tipo II/diagnóstico , Programas de Rastreamento , Síndromes da Apneia do Sono/epidemiologia , Idade de Início , Diagnóstico Precoce , Doença de Depósito de Glicogênio Tipo II/epidemiologia , Humanos , Japão/epidemiologia , Polissonografia , Estudos Prospectivos , Projetos de PesquisaRESUMO
BACKGROUND: Sleep-disordered breathing (SDB), represented by sleep apnea, is highly prevalent in the general population and is associated with alcohol intake and obesity. Since SDB is further associated with hypertension, diabetes, and future cardiovascular diseases, as well as accidents and injuries in workplaces, there is a need for complete SDB assessment in workers, including screening and the application of diagnostic and therapeutic approaches. RESULTS: Currently, it appears that SDB assessment is not sufficiently conducted, even among commercial motor vehicle (CMV) drivers, despite CMV drivers with SDB being at a high risk of serious traffic accidents. Based on a discussion conducted in The Study Group for Sleep Disordered Breathing in Work Places, we summarized the current situation in Japan and tried to elucidate the bottleneck of these approaches. Then, the situation in Japan was compared with that in South Korea; Professor Chol Shin substantiated that the situation in South Korea was similar to that in Japan. However, recently published data on CMV drivers in the United States showed that appropriate treatment of SDB reduced the risk of traffic accidents among CMV drivers. This will encourage the implementation of the required processes, from screening to maintenance of treatment. CONCLUSION: We propose a new approach based on "harmonizing work with treatment and prevention" and "Health and Productivity Management (HPM)" as a solution for implementing SDB programs.
Assuntos
Eficiência , Programas de Rastreamento , Saúde Ocupacional , Apneia do Sono Tipo Central/prevenção & controle , Apneia do Sono Tipo Central/psicologia , Local de Trabalho , Prevenção de Acidentes , Acidentes de Trânsito , Consumo de Bebidas Alcoólicas/efeitos adversos , Doenças Cardiovasculares/etiologia , Humanos , Japão , Veículos Automotores , Obesidade/complicações , República da Coreia , Risco , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/etiologiaRESUMO
BACKGROUND AND OBJECTIVE: Coffee is a major caffeine-containing food source that can be used for treatment of apnea in prematurity. However, few studies have examined the association between coffee consumption and sleep-disordered breathing (SDB). We investigated whether coffee consumption is associated with the oxygen desaturation index (ODI) as a marker of SDB among middle-aged Japanese male workers. METHODS: The subjects were 1126 male local government workers aged 22-59 who participated in SDB screening in 2011-2012. Daily coffee consumption was assessed by a self-administered questionnaire. We measured 3% oxygen desaturation (3%ODI) during a night's sleep using a pulse oximeter. A general linear model was used to calculate the multivariate-adjusted means of 3%ODI per quartile of coffee consumption. We further analyzed the data after stratifying by overweight and current smoking status. RESULTS: A inverse association between coffee consumption and 3%ODI was found. The multivariate-adjusted mean of 3%ODI for the lowest and highest coffee consumption groups were 11.9 times/h and 10.6 times/h (p for trend = 0.06), respectively; 14.6 and 11.5 times/h (p for trend = 0.01) in overweight participants; and 12.7 and 11.0 times/h (p for trend = 0.06) in non-smokers. No associations were found in non-overweight and smoking workers. CONCLUSIONS: Our results suggest that higher coffee consumption was associated with lower 3% ODI as a marker of SDB in overweight and non-smoking workers.
Assuntos
Café/efeitos adversos , Hábitos , Hipóxia/induzido quimicamente , Oxigênio/sangue , Síndromes da Apneia do Sono/sangue , Síndromes da Apneia do Sono/induzido quimicamente , Adulto , Biomarcadores/sangue , Correlação de Dados , Relação Dose-Resposta a Droga , Humanos , Hipóxia/sangue , Hipóxia/diagnóstico , Japão , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Sobrepeso/sangue , Oximetria , Polissonografia , Síndromes da Apneia do Sono/diagnóstico , Fumar/efeitos adversos , Fumar/sangue , Adulto JovemRESUMO
BACKGROUND: Although blood pressure (BP) is regulated by the autonomic nervous system, it is not fully understood how autonomic activity affects BP at home in the general population. METHODS: Subjects were enrolled from 2009 to 2012 and included 1,888 men and women aged 30-79 years. We measured casual BP in the morning during health checkups and asked participants to monitor BP at home twice in the morning and evening for 1 week. The mean of the two measurements of mean arterial pressure (MAP) was calculated. Five-minute recordings of the pulse wave from a fingertip sensor were used to determine the following indices of heart rate variability (HRV): standard deviation of normal-to-normal RR intervals (SDNN), root mean square of successive differences in RR intervals (RMSSD), high frequency (HF) power, low frequency (LF) power, and LF/HF. RESULTS: Sex- and age-adjusted means of casual MAP, and morning and evening MAP at home were significantly different among quartiles of SDNN, RMSSD, and HF. When further adjusted for smoking, alcohol drinking, medication for hypertension, diabetes, sleeping hours, snoring, and mental health status, the associations were somewhat attenuated. Inverse relationships were found between the means of morning home MAP, and RMSSD (P = 0.02) and HF (P = 0.051) after adjustment for confounders. The association between MAP and RMSSD, or MAP and HF was evident in individuals <65 years old. CONCLUSION: Low HF and RMSSD, which reflect impaired parasympathetic nervous system activity, were associated with increased home MAP in the morning rather than in the evening.
Assuntos
Pressão Arterial , Sistema Nervoso Autônomo/fisiopatologia , Sistema Cardiovascular/inervação , Frequência Cardíaca , Hipertensão/fisiopatologia , Adulto , Idoso , Monitorização Ambulatorial da Pressão Arterial , Ritmo Circadiano , Estudos Transversais , Feminino , Humanos , Hipertensão/diagnóstico , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Fatores de TempoRESUMO
BACKGROUND: Hypersensitivity pneumonitis (HP) is an immune-mediated lung disease induced by inhalation of numerous antigens. Pathologically, chronic HP tends to show usual interstitial pneumonia (UIP) and fibrotic nonspecific interstitial pneumonia (fNSIP) patterns. Patients with UIP pattern present insidious onset and a risk for acute exacerbations. METHODS: To evaluate the proteomic differences of bronchoalveolar lavage fluid (BALF) between UIP and fNSIP patterns, BALF from seven patients with UIP pattern and four patients with fNSIP pattern was examined using two-dimensional gel electrophoresis and mass spectrometry. RESULTS: By individually comparing each BALF sample, we found that the protein levels of surfactant protein A (SP-A), immunoglobulin heavy chain α, α-2 heat shock glycoprotein, haptoglobin ß, and immunoglobulin J chain were significantly higher in the patients with UIP pattern than those in the patients with fNSIP pattern. In contrast, the protein levels of glutathione s-transferase, vitamin D-binding protein, and ß-actin were significantly higher in the patients with fNSIP pattern than those in the patients with UIP pattern. To confirm the results of SP-A in the BALF proteome, we performed enzyme-linked immunosorbent assay in a larger group. The concentrations of SP-A in BALF from the patients with UIP pattern were significantly higher than those from the patients with fNSIP pattern (2.331 ± 1.656 µg/ml vs. 1.319 ± 1.916 µg/ml, p = 0.034). CONCLUSIONS: We identified several proteins that may play roles in the development of pathological differences between UIP and fNSIP patterns of chronic HP.