Duchenne muscular dystrophy (DMD) leads to progressive impairment of muscle function, respiratory failure and premature death. Longitudinal data on the course of physical disability and respiratory ...function are sparse.
To assess prospectively physical impairment and disability, respiratory function and survival in patients with DMD over several years to describe the course of the disease with current care.
In 43 patients with DMD, aged 5-35 years, yearly assessments of physical disability by the Duchenne muscular dystrophy physical Impairment and Dependence on care (DID) score, ranging from 9 (no disability) to 80 (complete dependence), and forced vital capacity (FVC), were obtained over a mean time interval of 5.4 (SD 2.1) years.
DID scores were correlated with age according to a hyperbolic function (f = 85.3 x age/(10.05+age), R = 0.62, p<0.0001). FVC declined exponentially with age (f = 139.1 x exp(-0.08 x age), R = 0.52, p<0.0001). Mean age at which patients lost their ambulation was 9.4 (SD 2.4) years and they became dependent on an electric wheelchair at 14.6 (4.0) years. Age at the beginning of assisted ventilation was 19.8 (3.9) years, Three patients died during the observation period. The estimated probability of survival to age 30 years was 85% (median survival was 35 years).
Our detailed observations of the progression of physical disability, dependence on care and respiratory impairment in patients with DMD from childhood to adult life is valuable for predicting the clinical course with current medical care. Compared with historical data, survival has improved considerably.
Our purpose was to compare the effectiveness and side effects of a novel, single-piece mandibular advancement device (OSA-Monobloc) for sleep apnea therapy with those of a two-piece appliance with ...lateral Herbst attachments (OSA-Herbst) as used in previous studies. An OSA-Monobloc and an OSA-Herbst with equal protrusion were fitted in 24 obstructive sleep apnea patients unable to use continuous positive airway pressure (CPAP) therapy. After an adaptation period of 156 +/- 14 d (mean +/- SE), patients used the OSA-Monobloc, the OSA-Herbst, and no appliance in random order, using each appliance for 1 wk. Symptom scores were recorded and sleep studies were done at the end of each week. Several symptom scores were significantly improved with both appliances, but to a greater degree with the OSA-Monobloc. Epworth Sleepiness Scale scores were 8.8 +/- 0.7 with the OSA-Herbst, and 8.6 +/- 0.8 with the OSA-Monobloc devices, and 13.1 +/- 0.9 without therapy (p < 0.05 versus both appliances). The apnea/hypopnea index was 8.7 +/- 1.5/h with the OSA-Herbst and 7.9 +/- 1.6/h with the OSA-Monobloc device, and 22.6 +/- 3.1/h without therapy (p < 0.05 versus both appliances). Side effects were mild and of equal prevalence with both appliances. Fifteen patients preferred the OSA-Monobloc, eight patients had no preference, and one patient preferred the OSA-Herbst device (p < 0.008 versus OSA-Monobloc). We conclude that both the OSA-Herbst and the OSA-Monobloc are effective therapeutic devices for sleep apnea. The OSA-Monobloc relieved symptoms to a greater extent than the OSA-Herbst, and was preferred by the majority of patients on the basis of its simple application.
Our purpose was to investigate side effects of sleep apnea treatment by removable oral appliances (OA) that advance the mandible. In 22 patients suffering from obstructive sleep apnea (OSA), ...questionnaire evaluations, polysomnographies, cephalographies, and dental plaster casts were obtained before initiation of treatment with OA that fully covered both dental arches. Patients were reevaluated after 3 to 12 mo (questionnaires, polysomnographies) and 12 to 30 mo (questionnaires, cephalographies, plaster casts) during continuous treatment. Polysomnographies confirmed improved breathing by OA. All patients experienced persistent alleviation of symptoms after 12 to 30 mo and wished to continue treatment. Side effects were common but only mildly disturbing: mucosal dryness (86% of patients), tooth discomfort (59%), and hypersalivation (55%). Cephalographies revealed a decrease in the mean (+/- SE) upper incisors to maxillary plane angle from 102 +/- 2 degrees at baseline, to 101 +/- 2 degrees after 12 to 30 mo (p < 0.05). Overbite and overjet were also slightly (mean reduction < 1 mm) but significantly reduced. None of these side effects required discontinuation of treatment. OA are an effective therapy of obstructive sleep apnea. Mild side effects are common but rarely require intervention. Nevertheless, close follow-up during long-term therapy by OA is advisable in order to timely detect potentially relevant orthodontic changes.
We prospectively studied the surgical aspects, functional results, and complications of video-assisted bilateral thoracoscopic volume reduction surgery in patients with severe diffuse pulmonary ...emphysema.
Methods: Fifteen men and five women with a mean age of 64 years (range 42 to 78 years) whose daily activity was substantially impaired by severe airflow obstruction and hyperinflation underwent thoracoscopic volume reduction surgery. The prospective preoperative assessment and postoperative assessment at 3 months included (1) pulmonary function studies, (2) grading of dyspnea, and (3) exercise performance; pulmonary function tests were also performed immediately before discharge from the hospital.
Results: There was no perioperative mortality. All patients left the hospital after a median stay of 15 days (6 to 27 days). Only seven patients had a prolonged chest tube drainage time (>7 days). At 3 months the mean (± standard deviation) forced expiratory volume in 1 second had improved by 42% (±3.8%), from 0.80 L (±0.23) to 1.09 L (±0.28) (
p < 0.001); residual volume had decreased from 5.8 L (±1.5) to 4.4 L (±1.0) (
p < 0.001). Shortly before discharge the forced expiratory volume in 1 second was already 1.10 L (±0.26). The median 12-minute walking distance increased from 495 m (35 to 790 m) to 688 m (175 to 1035 m) (
p < 0.001) and the mean maximal oxygen consumption from 10 ml/kg per minute (±2.5) to 13 ml/kg per minute (±2.3) (
p < 0.0005). The patients reported a substantial relief of dyspnea with a mean decrease in the Medical Research Council score from 3.4 to 1.8. (J T
HORAC C
ARDIOVASC S
URG 1996;112:875-82)
The Epworth Sleepiness Scale (ESS) is a questionnaire widely used in English speaking countries for assessment of subjective daytime sleepiness.
Our purpose was to translate and validate the ESS for ...use in German-speaking countries.
A German translation of the ESS was administered to 159 healthy German-speaking Swiss and to 174 patients with various sleep disorders.
The mean +/- SD of ESS scores in normals was 5.7+/-3.0, in patients it was 13.0+/-5.1 (p<0.001). Scores were not correlated with age or gender but with the percentage of time spent at an oxygen saturation <90% (R = 0.35, p<0.001), and the respiratory disturbance index (R = 0.26, p<0.001) in primary snorers and sleep apnea patients. Item analysis confirmed internal consistency of the scale (Cronbach alpha = 0.60 in normals, and 0.83 in patients). Follow-up scores in 25 sleep apnea patients on treatment showed a reduction by 7+/-5 points (p<0.05).
Our data validate the ESS for application in German-speaking populations. The simplicity, reliability and the apparent lack of relevant influences of language and cultural background on performance of the ESS makes it a valuable tool for clinical management and research.
Prior to the implementation of predictive-testing programs for Huntington disease (HD), significant concern was raised concerning the likelihood of catastrophic events (CEs), particularly in those ...persons receiving an increased-risk result. We have investigated the frequency of CEs—that is, suicide, suicide attempt, and psychiatric hospitalization—after an HD predictive-testing result, through questionnaires sent to predictive-testing centers worldwide. A total of 44 persons (0.97%) in a cohort of 4,527 test participants had a CE: 5 successful suicides, 21 suicide attempts, and 18 hospitalizations for psychiatric reasons. All persons committing suicide had signs of HD, whereas 11 (52.4%) of 21 persons attempting suicide and 8 (44.4%) of 18 who had a psychiatric hospitalization were symptomatic. A total of 11 (84.6%) of 13 asymptomatic persons who experienced a CE during the first year after HD predictive testing received an increased-risk result. Factors associated with an increased risk of a CE included (
a) a psychiatric history ≤5 years prior to testing and (
b) unemployed status. The frequency of CEs did not differ between those persons receiving results of predictive testing through linkage analysis in whom there was only changes in direction of risk and those persons receiving definitive results after analysis for the mutation underlying HD. These findings provide insights into the frequency, associated factors, and timing of CEs in a worldwide cohort of persons receiving predictive-testing results and, as such, highlight persons for whom ongoing support may be beneficial.
Abstract
The respiratory effects of benzodiazepines have been controversial. This investigation aimed to study the effects of oral alprazolam on ventilation. In a randomised, double-blind cross-over ...protocol, 20 healthy men ingested 1 mg of alprazolam or placebo in random order, 1 week apart. Ventilation was unobtrusively monitored by inductance plethysmography along with end-tidal PCO2 and pulse oximetry 60–160 min after drug intake. Subjects were encouraged to keep their eyes open. Mean ± SD minute ventilation 120 min after alprazolam and placebo was similar (6.21 ± 0.71 vs 6.41 ± 1.12 L/min, P = NS). End-tidal PCO2 and oxygen saturation did also not differ between treatments. However, coefficients of variation of minute ventilation after alprazolam exceeded those after placebo (43 ± 23% vs 31 ± 13%, P < 0.05). More encouragements to keep the eyes open were required after alprazolam than after placebo (5.2 ± 5.7 vs 1.3 ± 2.3 calls, P < 0.05). In a multiple regression analysis, higher coefficients of variation of minute ventilation after alprazolam were related to a greater number of calls. Oral alprazolam in a mildly sedative dose has no clinically relevant effect on ventilation in healthy, awake men. The increased variability of ventilation on alprazolam seems related to vigilance fluctuations rather than to a direct drug effect on ventilation.
Duchenne muscular dystrophy (DMD) leads to progressive, generalized paresis, and to respiratory failure in the second decade of life. The assumption that severe physical disability precludes an ...acceptable quality of life is common, but has not been specifically evaluated in DMD.
The purpose of this study was to investigate the quality of life in relation to physical disability, pulmonary function, and the need for assisted ventilation in DMD.
In 35 patients with DMD, aged 8-33 yr, we assessed physical disability by a score ranging from 9 (no disability) to 80 (complete dependence on care and technical aids), pulmonary function, and health-related quality of life by Short-Form 36 of the medical outcome questionnaire.
All patients required a wheelchair and help for dressing and eating. Fourteen patients were on long-term noninvasive positive-pressure ventilation. In ventilated patients, mean +/- SD FVC was 12 +/- 10 % predicted, and the physical disability score was 65 +/- 7. Corresponding values in spontaneously breathing patients were 48 +/- 25 % predicted, and 51 +/- 7, respectively (p < 0.05 for both comparisons between groups). Short-Form 36 physical function scores were massively reduced in both groups (1 +/- 2, and 0 +/- 0, respectively), but vitality, role-emotional, social function, and mental health scores were nearly normal (67-98), and did not differ between groups.
Quality of life in DMD is not correlated with physical impairment nor the need for noninvasive positive-pressure ventilation. The surprisingly high quality of life experienced by these severely disabled patients should be taken into consideration when therapeutic decisions are made.
The Adolescent Brain Cognitive Development (ABCD) Study
is a 10-year longitudinal study of children recruited at ages 9 and 10. A battery of neuroimaging tasks are administered biennially to track ...neurodevelopment and identify individual differences in brain function. This study reports activation patterns from functional MRI (fMRI) tasks completed at baseline, which were designed to measure cognitive impulse control with a stop signal task (SST; N = 5,547), reward anticipation and receipt with a monetary incentive delay (MID) task (N = 6,657) and working memory and emotion reactivity with an emotional N-back (EN-back) task (N = 6,009). Further, we report the spatial reproducibility of activation patterns by assessing between-group vertex/voxelwise correlations of blood oxygen level-dependent (BOLD) activation. Analyses reveal robust brain activations that are consistent with the published literature, vary across fMRI tasks/contrasts and slightly correlate with individual behavioral performance on the tasks. These results establish the preadolescent brain function baseline, guide interpretation of cross-sectional analyses and will enable the investigation of longitudinal changes during adolescent development.
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