Benefit of continuous positive airway pressure on work quality in patients with severe obstructive sleep apnea.

BACKGROUND: The objective of this prospective study was to assess the effect of CPAP therapy on job productivity and work quality for patients with severe obstructive sleep apnea (OSA). METHODS: A convenience sample of patients diagnosed with severe OSA using polysomnography or polygraphy and with a therapeutic indication for CPAP was enrolled in our study. Patients completed two self-administered questionnaires: the first before CPAP therapy and the second during the first 6 months after CPAP treatment. OSA symptoms were evaluated through self-administered questionnaires assessing potential effects on occupational activity: excessive daytime sleepiness was rated by the Epworth Sleepiness Scale (ESS), emotional status was rated by the Hospital Anxiety and Depression (HAD) scale, work quality was rated by the Work Role Functioning Questionnaire (WRFQ). RESULTS: Forty patients (30 men, mean age 47.3 ± 8.3, mean BMI 31.6 ± 7.4, mean apnea-hypopnea index 51.8 ± 16.3) showed a beneficial effect of CPAP therapy on ESS score (mean 11.6 to 8.2, p < 0.0001), the anxiety dimension (mean 57.5% to 20%, p = 0.0002), and the overall anxiety-depressive score (mean 50% to 22.5%, p = 0.0006). Mean WRFQ scores were significantly improved in the second questionnaire for the dimensions of timetable requirements (69.3% to 83.5%, p < 0.0001), productivity requirements (71.4% to 82.2%, p < 0.0001), mental requirements (72.0% to 84.3%, p < 0.0001), and social requirements (82.6% to 91.4%, p < 0.003). CONCLUSIONS: We observed that adherence to CPAP therapy for patients with severe OSA mitigates the impact of symptoms on work including excessive daytime sleepiness, impairment of work ability, and anxiety and depressive disorders.

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]. / Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données.

The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD database. The collection of 70,000 clinical data for 600 patients with an average longitudinal follow-up of 12years enabled clarification of the natural history of Duchenne and Becker muscular dystrophies and clinical presentations in symptomatic females. We were able to specify the phenotypic heterogeneity of motor, orthopedic and respiratory involvements (severe, standard and intermediary form), of the cardiac disorder (severe, standard or absent cardiomyopathy, absence of correlation between motor and cardiac involvements), and of brain function (mental deficiency in the patients with Becker muscular dystrophy, psychopathological disorders in dystrophinopathies). Phenotypic variability did not correlate with a specific mutational spectrum. We propose a model of phenotypic analysis based on the presence or not of muscular and cardiac involvements (described by age at onset and rate of progression) and brain involvement (described by the type and the severity of the cognitive impairment and of the psychological disorders). The methodology developed for the DMD gene can be generalized and used for other databases dedicated to genetic diseases. Application of this model of phenotypic analysis for each patient and further development of the database should contribute substantially to clinical research providing useful tools for future clinical trials.

Factors predicting survival following noninvasive ventilation in amyotrophic lateral sclerosis.

BACKGROUND/AIMS: The involvement of respiratory muscles is a major predicting factor for survival in amyotrophic lateral sclerosis (ALS). Recent studies show that noninvasive ventilation (NIV) can relieve symptoms of alveolar hypoventilation. However, factors predicting survival in ALS patients when treated with NIV need to be clarified. METHODS: We conducted a retrospective study of 33 consecutive ALS patients receiving NIV. Ten patients had bulbar onset. We determined the median survivals from onset, diagnosis and initiation of NIV and factors predicting survival. Statistical analysis was performed using the Kaplan-Meier test and Cox proportional hazard models. RESULTS: The median initial and maximal total uses of NIV were 10 and 14 h/24h. The overall median survival from ALS onset was 34.2 months and worsened with increasing age and bulbar onset of the disease. The median survival from initiation of NIV was 8.4 months and was significantly poorer in patients with advanced age or with airway mucus accumulation. Survival from initiation of NIV was not influenced by respiratory parameters or bulbar symptoms. CONCLUSION: Advanced age at diagnosis and airway mucus accumulation represent poorer prognostic factors of ALS patients treated with NIV. NIV is a helpful treatment of sleep-disordered breathing, including patients with bulbar involvement.

Resurgence of Schmallenberg Virus in Belgium after 3 Years of Epidemiological Silence.

In spring 2016, three years after the last reported outbreak of Schmallenberg virus (SBV) in Belgium, an abortion was notified in a two year old Holstein heifer that previously had not been vaccinated against SBV. The autopsy of the eight-month-old malformed foetus revealed hydrocephalus, torticollis and arthrogryposis. Foetal brain tissue and blood were found to be SBV-positive by RT-PCR and ELISA tests, respectively. Evidencing the circulation of SBV in Belgium in the autumn 2015 is important to anticipate future outbreaks and advise veterinarians about the risks associated with calving, as more bovine foetuses might have been infected.

[Outcome in COPD patients treated with at-home, long-term, non-invasive ventilation]. / Devenir des patients BPCO traités par ventilation non invasive prolongée à domicile.

BACKGROUND: The use of domiciliary non-invasive positive pressure ventilation (NIPPV) is still controversial in stable hypercapnic COPD. METHODS: Records of COPD patients who received home NIPPV from 1990 to 2002 either following an acute exacerbation or because of stable hypercapnia were retrospectively reviewed. RESULTS: Thirty-seven patients receiving long term oxygen therapy for 50 +/- 47 months were included. At inclusion, their mean +/- SD: FEV1 was 27 +/- 9% predicted, inspiratory capacity was 45 +/- 14% predicted, PaO2 breathing room air was 50 +/- 10 mm Hg, PaCO2 breathing room air = 53 +/- 8 mm Hg, PaCO2 with oxygen was 60 +/- 9 mm Hg. Median survival with NIPPV was 41 months. The 1-year, 3-year and 5-year survival rates with NIPPV were 92%, 62% and 24% respectively. Twelve months after onset of home NIPPV, PaCO2 breathing room air and with oxygen were significantly lower (47 +/- 8 mm Hg, p = 0.028 and 53 +/- 8 mm Hg, p = 0.005, respectively), inspiratory capacity was significantly improved (54 +/- 18% predicted, p = 0.033). CONCLUSION: This study suggests that home NIPPV allows a lasting physiological stabilization in selected COPD patients, particularly those with an advanced disease, by reducing hypercapnia and improving inspiratory capacity.

Congenital jaundice in bovine aborted foetuses: an emerging syndrome in southern Belgium.

Southern Belgium faces an unusual recent increase of icteric bovine aborted foetuses. In the necropsy room, the majority of foetuses presented jaundice and splenomegaly. Despite a wide range of analyses, no definitive cause of abortion has yet been established but some analysis results support the leptospirosis hypothesis. This first description of cases will help veterinary practitioners to recognize more cases and to conduct those to the laboratory for future investigations.

Nocturnal hypoventilation in chronic respiratory failure (CRF) due to neuromuscular disease.

Decrease of respiratory muscle capacities in neuromuscular disease can lead to chronic respiratory failure with permanent alveolar hypoventilation. Respiratory centers elaborate a strategy of breathing dedicated to prevent overt respiratory muscles fatigue. This strategy may worsen chronic hypercapnia. During sleep, ventilation decreases because a lessening in respiratory centers function. During NREM sleep hypoventilation is only an exacerbation of what is seen during wakefulness. During REM sleep, atonia worsens much more hypoventilation particularly when diaphragmatic function is impaired. The effects of atonia are amplified by a very low reactivity of respiratory centers. Nocturnal mechanical ventilation improves nocturnal hypoventilation and daytime arterial blood gases (ABG). Mechanism of improvement in ABG and how nocturnal hypoventilation and diurnal hypoventilation interact, are still a matter of debate.

Principles of mandibular advancement device applied to the therapeutic of snoring and sleep apnea syndrome.

Mandibular advancement device (MAD) represents a therapeutic option for simple snoring to obstructive sleep apnea syndrome (OSAS). The different available studies report an improvement either on nocturnal respiratory events or on the quality of sleep. The decrease in the intensity of snoring is confirmed by the patient's partner and by objective studies. For the time being the effects of these mandibular advancement devices on the upper airway resistance syndrome has not yet been well documented. The significant clinical improvement is secondary to the decrease in apnea hypopnea index (AHI). A polysomnographically proved cure has been reported with AHI < 10/h. Sleep architecture is also improved with wearing MAD demonstrating a decrease in the time passed in stage 1 sleep and an increase in slow wave sleep and rapid eye movement sleep (REM). A decrease in microarousals index has been shown. Daytime vigilance disorders are subjectively and objectively less remarkable. Then MAD can be beneficial for mild to moderate SAOS.

[Tracheotomy management in home mechanical ventilation]. / La gestion de la trachéotomie chez les patients adultes sous assistance ventilatoire à domicile.

INTRODUCTION: Despite a large increase in the use of long term non-invasive ventilation domiciliary ventilation via a tracheostomy remains necessary in certain cases of severe respiratory insufficiency. The object of this article is to describe the technical and human management required in domiciliary ventilation by tracheostomy. PERSPECTIVES: From the setting up of invasive ventilation in the home the choice of a tracheostomy tube to suit the patient and the management of the cuff by the patient or the family requires special attention by the prescribing physician. Currently humidification of the circuit is usually achieved by means of a hot water humidifier. Aspiration techniques, the changing and cleaning of the tracheostomy tube and the correct use of the speaking system need to be taught to the patient and the relatives. The main complications of domiciliary ventilation by tracheostomy are linked to the presence of the tube in the trachea and either mechanical (stenosis, granulomata, tracheal-oesophageal fistula) or infections. CONCLUSIONS: The prescribing physician should call on health care providers whose staff are trained in domiciliary ventilation by tracheostomy and include in his team nurses who can continue the education of the patient and relatives.

[Mandibular advancement orthoses used in the treatment of obstructive sleep apnea syndrome]. / Orthèses d'avancement mandibulaire utilisées comme traitement du syndrome d'apnée obstructive du sommeil.

Mandibular advancement devices represent a therapeutic option for obstructive sleep apnea syndrome (OSAS). Clinical improvement has been proven in the different available studies, mainly on nocturnal respiratory events and quality of sleep. Less snoring have been noted by bed partners and objective studies have demonstrated decrease in snoring frequency and intensity. The effect of these ortheses on upper airways resistance syndrome is not yet well documented. The significant clinical improvement is secondary to the decrease in the occurrence of apneas and hypopneas. Polysomnographic improvement criteria with an apnea hypopnea index less than 10 per hour has been noted in certain cases. Although no improvement or even worsening was noted in other cases. Sleep architecture has also changed in these patients, with a decrease in the time spent in stages 1 and 2, and an increase in the time spent in stages 3 and 4 and rapid eye movement sleep. Micro-arousals are also decreased in number certainly with the decrease in the occurrence of respiratory events. Somnolence and loss of attention are improved; these have been evaluated subjectively or by a well known and approved somnolence scale. In some cases a test for vigilance was done.

[Mandibular advancement orthotic for treatment of obstructive sleep apnea]. / Orthèses d'avancement mandibulaire utilisées comme traitement du syndrome d'apnée obstructive du sommeil.

Mandibular advancement devices represent a therapeutic option for obstructive sleep apnea syndrome (OSAS). Clinical improvement has been proved in the different available studies, mainly on nocturnal respiratory events and quality of sleep. Less snoring have been noted by bed partners and objective studies have demonstrated decrease in snoring frequency and intensity. The effect of these ortheses on upper airways resistance syndrome is not yet well documented. The significant clinical improvement is secondary to the decrease in the occurrence of apneas and hypopneas. Polysomnographic improvement criteria with an apnea hypopnea index less than 10 per hour has been noted in certain cases. Although no improvement or even worsening was noted in other cases. Sleep architecture has also changed in these patients, with a decrease in the time spent in stages 1 and 2, and an increase in the time spent in stages 3 and 4 and rapid eye movement sleep. Microarousals are also decreased in number certainly with the decrease in the occurrence of respiratory events. Somnolence and loss of attention are improved; these have been evaluated subjectively or by a well known and approved somnolence scale. In some cases a test for vigilance was done.

Discriminating neurological from psychiatric hypersomnia using the forced awakening test.

INTRODUCTION: Sleep inertia refers to the inability to attain full alertness following awakening from sleep and is a major component of hypersomnia. As event-related potentials (ERPs) are correlated to the degree of consciousness, they allow exploring information processing in transitional states of vigilance. Their modifications during forced awakening (FA) context have been shown to reflect sleep inertia. OBJECTIVES: To assess the diagnostic value of a FA test using an oddball stimulation protocol during a nap in a representative sample of patients with excessive daytime sleepiness (EDS). METHODS: One hundred and seventy three patients [30 narcolepsy, 62 idiopathic hypersomnia, 33 sleep apnoea syndrome, and 48 other (mainly psychiatric) hypersomnia] performed an auditory target detection stimulation task during pre-, post-nap wakefulness, and during two successive intra-nap FA while the EEG was simultaneously recorded. Both the accuracy of target detection and the ERPs were evaluated. ERPs during forced awakening test were considered to reflect sleep inertia if they presented with a P300 delay and/or sleep negativities (N350/N550). RESULTS: Pre-nap behavior and ERPs were normal in all patients. Behavioral results were significantly worse during FA than during wakefulness for all groups of patients. P300 latencies were significantly delayed on FA conditions in each group of patients except the psychiatric group. Sensitivity and specificity for detection of sleep inertia were 64% and 94%, respectively, with predictive values of 96% (positive) and 50% (negative). CONCLUSIONS: Our results suggest that the FA test could be helpful as a diagnostic procedure for discriminating neurological from psychiatric hypersomnia.

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

BACKGROUND: Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that cerebral vessel involvement could be an underrecognized complication of this disease. METHODS: We report cerebral artery involvement in three French patients with late-onset Pompe disease. RESULTS: The first patient died at age 35 years from complications of a giant fusiform aneurysm of the basilar artery, and her 34-year-old sister showed evidence of dolichoectatic basilar artery on magnetic resonance angiography. A dilative arteriopathy complicated with carotid artery dissection was diagnosed in the third patient, aged 50 years. Two patients are currently being treated with enzyme replacement therapy (alglucosidase alfa), and regular angiographic follow-up showed the absence of progression of vascular abnormalities in one of them. CONCLUSION: These observations, combined with previously reported cases, confirm that Pompe disease should be recognized as a predisposing condition to dilative arteriopathy and cerebral aneurysm formation, although the real incidence of these vascular complications remains unknown.

[Treatment of obstructive sleep apnea syndrome with mandibular advancement appliances]. / Traitement du syndrome d'apnées obstructives du sommeil par les orthèses d'avancement mandibulaire.

Mandibular advancement device provide a therapeutic option for obstructive sleep apnea syndrome (OSAS). Clinical improvement has been proven in the different available studies, mainly on nocturnal respiratory events and quality of sleep. Less snoring have been noted by bed partners and objective studies have demonstrated a decrease in snoring frequency and intensity. The effects of these appliances on upper airways resistance syndrome is not yet well documented. The significant clinical improvement is secondary to the decrease in the occurrence of apneas and hypopneas. Polysomnographic improvement criteria with an apnea hypopnea index less than 10 per hour has been noted in certain cases, although no improvement or even worsening was noted in other cases. Sleep architecture has also changed in these patients, with a decrease in the time spent in stages 1 and 2, and an increase in the time spent in stages 3, 4 and rapid eye movement sleep. Micro-arousals are also reduced in number. Somnolence and loss of attention are improved; these have been evaluated subjectively or by a well known and approved somnolence scale. In some cases a test for vigilance was done. Our results are identical to those published in the different studies concerning respiratory events and sleep architecture.

Correlated strength in the nuclear spectral function.

We have carried out an (e,e'p) experiment at high momentum transfer and in parallel kinematics to measure the strength of the nuclear spectral function S(k,E) at high nucleon momenta k and large removal energies E. This strength is related to the presence of short-range and tensor correlations, and was known hitherto only indirectly and with considerable uncertainty from the lack of strength in the independent-particle region. This experiment locates by direct measurement the correlated strength predicted by theory.

Measurement of the electric form factor of the neutron through d-->(e-->,e(')n)p at Q2 = 0.5 (GeV/c)(2).

We report the first measurement using a solid polarized target of the neutron electric form factor G(n)(E) via d-->(e-->,e(')n)p. G(n)(E) was determined from the beam-target asymmetry in the scattering of longitudinally polarized electrons from polarized deuterated ammonia ( 15ND3). The measurement was performed in Hall C at Thomas Jefferson National Accelerator Facility in quasifree kinematics with the target polarization perpendicular to the momentum transfer. The electrons were detected in a magnetic spectrometer in coincidence with neutrons in a large solid angle segmented detector. We find G(n)(E) = 0.04632+/-0.00616(stat)+/-0.00341(syst) at Q2 = 0.495 (GeV/c)(2).