Effects of Upper Blepharoplasty Techniques on Headaches, Eyebrow Position, and Electromyographic Outcomes: A Randomized Controlled Trial.

The aim of this study was to assess changes in headaches, eyebrow height, and electromyographic (EMG) outcomes of the frontalis and orbicularis oculi muscles, after an upper blepharoplasty with or without resecting a strip of orbicularis oculi muscle. In a randomized controlled trial, 54 patients received an upper blepharoplasty involving either only removing skin (group A) or removing skin with an additional strip of orbicularis muscle (group B). Preoperative, and 6 and 12 months postoperative headache complaints were assessed using the HIT-6 scores and eyebrow heights were measured on standardised photographs. Surface EMG measurements, i.e., electrical activity and muscle fatigue, were assessed for the frontalis and orbicularis oculi muscles preoperatively and 2, 6, and 12 months postoperatively. Significantly fewer headaches were reported following a blepharoplasty. The eyebrow height had decreased, but did not differ between groups. Regarding the surface EMG measurements, only group A's frontalis muscle electrical activity had decreased significantly during maximal contraction 12 months after surgery (80 vs. 39 mV, p = 0.026). Fatigue of both the frontalis and the orbicularis oculi muscles did not change significantly postoperatively compared to baseline. EMG differences between groups were minor and clinically insignificant. The eyebrow height decreased and patients reported less headaches after upper blepharoplasty irrespective of the used technique.

Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: An investigator-initiated, randomized, crossover study.

Glycogen storage disease type IIIa (GSDIIIa) is an inborn error of carbohydrate metabolism caused by a debranching enzyme deficiency. A subgroup of GSDIIIa patients develops severe myopathy. The purpose of this study was to investigate whether acute nutritional ketosis (ANK) in response to ketone-ester (KE) ingestion is effective to deliver oxidative substrate to exercising muscle in GSDIIIa patients. This was an investigator-initiated, researcher-blinded, randomized, crossover study in six adult GSDIIIa patients. Prior to exercise subjects ingested a carbohydrate drink (~66 g, CHO) or a ketone-ester (395 mg/kg, KE) + carbohydrate drink (30 g, KE + CHO). Subjects performed 15-minute cycling exercise on an upright ergometer followed by 10-minute supine cycling in a magnetic resonance (MR) scanner at two submaximal workloads (30% and 60% of individual maximum, respectively). Blood metabolites, indirect calorimetry data, and in vivo 31 P-MR spectra from quadriceps muscle were collected during exercise. KE + CHO induced ANK in all six subjects with median peak ßHB concentration of 2.6 mmol/L (range: 1.6-3.1). Subjects remained normoglycemic in both study arms, but delta glucose concentration was 2-fold lower in the KE + CHO arm. The respiratory exchange ratio did not increase in the KE + CHO arm when workload was doubled in subjects with overt myopathy. In vivo 31 P MR spectra showed a favorable change in quadriceps energetic state during exercise in the KE + CHO arm compared to CHO in subjects with overt myopathy. Effects of ANK during exercise are phenotype-specific in adult GSDIIIa patients. ANK presents a promising therapy in GSDIIIa patients with a severe myopathic phenotype. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov identifier: NCT03011203.

Compensatory Movement Patterns Are Based on Abnormal Activity of the Biceps Brachii and Posterior Deltoid Muscles in Patients with Symptomatic Rotator Cuff Tears.

BACKGROUND: Abnormal movement patterns due to compensatory mechanisms have been reported in patients with rotator cuff tears. The long head of the biceps tendon may especially be overactive and a source of pain and could induce abnormal muscle activation in these patients. It is still unknown why some patients with a rotator cuff tear develop complaints and others do not. QUESTIONS/PURPOSES: (1) Which shoulder muscles show a different activation pattern on electromyography (EMG) while performing the Functional Impairment Test-Hand and Neck/Shoulder/Arm (FIT-HaNSA) in patients with a symptomatic rotator cuff tear compared with age-matched controls with an intact rotator cuff? (2) Which shoulder muscles are coactivated on EMG while performing the FIT-HaNSA? METHODS: This comparative study included two groups of people aged 50 years and older: a group of patients with chronic symptomatic rotator cuff tears (confirmed by MRI or ultrasound with the exclusion of Patte stage 3 and massive rotator cuff tears) and a control group of volunteers without shoulder conditions. Starting January 2019, 12 patients with a chronic rotator cuff tear were consecutively recruited at the outpatient orthopaedic clinic. Eleven age-matched controls (randomly recruited by posters in the hospital) were included after assuring the absence of shoulder complaints and an intact rotator cuff on ultrasound imaging. The upper limb was examined using the FIT-HaNSA (score: 0 [worst] to 300 seconds [best]), shoulder-specific instruments, health-related quality of life, and EMG recordings of 10 shoulder girdle muscles while performing a tailored FIT-HaNSA. RESULTS: EMG (normalized root mean square amplitudes) revealed hyperactivity of the posterior deltoid and biceps brachii muscles during the upward phase in patients with rotator cuff tears compared with controls (posterior deltoid: 111% ± 6% versus 102% ± 10%, mean difference -9 [95% confidence interval -17 to -1]; p = 0.03; biceps brachii: 118% ± 7% versus 111% ± 6%, mean difference -7 [95% CI -13 to 0]; p = 0.04), and there was decreased activity during the downward phase in patients with rotator cuff tears compared with controls (posterior deltoid: 89% ± 6% versus 98% ± 10%, mean difference 9 [95% CI 1 to 17]; p = 0.03; biceps brachii: 82% ± 7% versus 89% ± 6%, mean difference 7 [95% CI 0 to 14]; p = 0.03). The posterior deltoid functioned less in conjunction with the other deltoid muscles, and lower coactivation was seen in the remaining intact rotator cuff muscles in the rotator cuff tear group than in the control group. CONCLUSION: Patients with a symptomatic rotator cuff tear show compensatory movement patterns based on abnormal activity of the biceps brachii and posterior deltoid muscles when compared with age-matched controls. The posterior deltoid functions less in conjunction with the other deltoid muscles, and lower coactivation was seen in the remaining intact rotator cuff muscles in the rotator cuff tear group than the control group. CLINICAL RELEVANCE: This study supports the potential benefit of addressing the long head biceps tendon in the treatment of patients with a symptomatic rotator cuff tear. Moreover, clinicians might use these findings for conservative treatment; the posterior deltoid can be specifically trained to help compensate for the deficient rotator cuff.

Development of muscle ultrasound density in healthy fetuses and infants.

Muscle ultrasound density (MUD) is a non-invasive parameter to indicate neuromuscular integrity in both children and adults. In healthy fetuses and infants, physiologic MUD values during development are still lacking. We therefore aimed to determine the physiologic, age-related MUD trend of biceps, quadriceps, tibialis anterior, hamstrings, gluteal and calf muscles, from pre- to the first year of postnatal life. To avoid a bias by pregnancy-related signal disturbances, we expressed fetal MUD as a ratio against bone ultrasound density. We used the full-term prenatal MUD ratio and the newborn postnatal MUD value as reference points, so that MUD development could be quantified from early pre- into postnatal life. Results: During the prenatal period, the total muscle group revealed a developmental MUD trend concerning a fetal increase in MUD-ratio from the 2nd trimester up to the end of the 3rd trimester [median increase: 27% (range 16-45), p < .001]. After birth, MUD-values increased up to the sixth month [median increase: 11% (range -7-27), p = 0.025] and stabilized thereafter. Additionally, there were also individual MUD characteristics per muscle group and developmental stage, such as relatively low MUD values of fetal hamstrings and high values of the paediatric gluteus muscles. These MUD trends are likely to concur with analogous developmentally, maturation-related alterations in the muscle water to peptide content ratios.

Long-term obstructive sleep apnea therapy: a 10-year follow-up of mandibular advancement device and continuous positive airway pressure.

STUDY OBJECTIVES: Obstructive sleep apnea (OSA) is a sleep-related breathing disorder, commonly managed by either continuous positive airway pressure (CPAP) or a mandibular advancement device (MAD). Long-term follow-up and comparison regarding efficacy of these therapies is scarce. In this study the results of treatment, patient adherence, and satisfaction over a 10-year follow-up of these therapies are reported. METHODS: This is a longitudinal follow-up study taken from a subset of patients initially enrolled in a randomized controlled clinical trial of 103 patients with OSA (51 and 52 patients randomized for MAD and CPAP, respectively). After a 10-year follow-up period, 14 patients using MAD and 17 patients using CPAP could be evaluated for this longitudinal follow-up study. Data were analyzed at baseline, after 3 months and at 1-, 2-, and 10-year follow-up. All 31 patients with OSA underwent polysomnography and self-reported measurements. RESULTS: Polysomnography results showed a favorable outcome of both therapies at 10-year follow-up. At baseline, included patients in both groups did not significantly differ in apnea-hypopnea index (AHI) values. At 10-year follow-up, both the MAD and CPAP groups showed a significant reduction in AHI. At baseline the mean AHI in the MAD group was 31.7 ± 20.6 events/h whereas in the CPAP group it was 49.2 ± 26.1 events/h. At 10-year follow-up the mean AHI in the MAD group was 9.9 ± 10.3 events/h and in the CPAP group it was 3.4 ± 5.4 events/h. Both therapies resulted in a substantial improvement in self-reported neurobehavioral outcomes at 10-year follow-up. CONCLUSIONS: Both CPAP and MAD therapy demonstrate good and stable treatment effects after a 10-year follow-up period. Therefore, when indicated, both therapies are appropriate modalities for the long-term management of OSA. CLINICAL TRIAL REGISTRATION: Registry: Netherlands Trial Register; Name: Management of the Obstructive Sleep Apnea-Hypopnea Syndrome: Oral Appliance versus Continuous Positive Airway Pressure Therapy; Identifier: NL75; URL: https://www.trialregister.nl/trial/75.

Dental side effects of long-term obstructive sleep apnea therapy: a 10-year follow-up study.

OBJECTIVES: Patients with obstructive sleep apnea (OSA) are usually treated with either mandibular advancement device (MAD) or continuous positive airway pressure (CPAP) therapy. The objective of this study is to evaluate changes in dental occlusion associated with long-term MAD and CPAP therapy. MATERIALS AND METHODS: Data from 14 OSA patients using MAD and 17 OSA patients using CPAP therapy were evaluated at baseline, 2-year and 10-year follow-up. Changes in dental occlusion were analyzed from dental plaster casts with a digital sliding caliper. RESULTS: At 2-year follow-up, MAD therapy resulted in significant dental changes when compared with baseline values. In MAD therapy, overjet and overbite decreased with 1.1 ± 1.8 mm and 1.1 ± 1.2 mm respectively. With CPAP therapy overjet and overbite decreased significantly with 0.2 ± 0.5 mm and 0.3 ± 0.5 mm, respectively. Both groups also showed significant changes in molar occlusion. After a 10-year follow-up, significant and more pronounced changes were seen in overjet and overbite. In MAD therapy, overjet and overbite decreased with 3.5 ± 1.5 mm and 2.9 ± 1.5 mm respectively when compared with baseline values. In CPAP therapy, overjet and overbite decreased with 0.7 ± 1.5 mm and 0.8 ± 1.4 mm respectively when compared with baseline values. CONCLUSIONS: This study demonstrates that MAD and CPAP therapy result in significant changes in dental occlusion. These changes appear progressive and more pronounced with MAD compared to CPAP therapy. CLINICAL RELEVANCE: Long-term OSA treatment results in significant dental side effects that may progress over time. Informed consent is fundamental before starting MAD treatment and individualized long-term follow-up is of eminent importance.

The importance of the intensive care unit environment in sleep-A study with healthy participants.

Sleep disruption is common among intensive care unit patients, with potentially detrimental consequences. Environmental factors are thought to play a central role in ICU sleep disruption, and so it is unclear why environmental interventions have shown limited improvements in objectively assessed sleep. In critically ill patients, it is difficult to isolate the influence of environmental factors from the varying contributions of non-environmental factors. We thus investigated the effects of the ICU environment on self-reported and objective sleep quality in 10 healthy nurses and doctors with no history of sleep pathology or current or past ICU employment participated. Their sleep at home, in an unfamiliar environment ('Control'), and in an active ICU ('ICU') was evaluated using polysomnography and the Richard-Campbell Sleep Questionnaire. Environmental sound, light and temperature exposure were measured continuously. We found that the control and ICU environment were noisier and warmer, but not darker than the home environment. Sleep on the ICU was perceived as qualitatively worse than in the home and control environment, despite relatively modest effects on polysomnography parameters compared with home sleep: mean total sleep times were reduced by 48 min, mean rapid eye movement sleep latency increased by 45 min, and the arousal index increased by 9. Arousability to an awake state by sound was similar. Our results suggest that the ICU environment plays a significant but partial role in objectively assessed ICU sleep impairment in patients, which may explain the limited improvement of objectively assessed sleep after environmental interventions.

Clinical- and Cost-Effectiveness of a Mandibular Advancement Device Versus Continuous Positive Airway Pressure in Moderate Obstructive Sleep Apnea.

STUDY OBJECTIVES: Limited evidence exists on the cost-effectiveness of mandibular advancement device (MAD) compared to continuous positive airway pressure (CPAP) therapy in moderate obstructive sleep apnea (OSA). Therefore, this study compares the clinical and cost-effectiveness of MAD therapy with CPAP therapy in moderate OSA. METHODS: In a multicentre randomized controlled trial, patients with an apnea-hypopnea index (AHI) of 15 to 30 events/h were randomized to either MAD or CPAP. Incremental cost-effectiveness and cost-utility ratios (ICER/ICUR, in terms of AHI reduction and quality-adjusted life-years [QALYs, based on the EuroQol Five-Dimension Quality of Life questionnaire]) were calculated after 12 months, all from a societal perspective. RESULTS: In the 85 randomized patients (n = 42 CPAP, n = 43 MAD), AHI reduction was significantly greater with CPAP (median reduction AHI 18.3 [14.8-22.6] events/h) than with MAD therapy (median reduction AHI 13.5 [8.5-18.4] events/h) after 12 months. Societal costs after 12 months were higher for MAD than for CPAP (mean difference €2.156). MAD was less cost-effective than CPAP after 12 months (ICER -€305 [-€3.003 to €1.572] per AHI point improvement). However, in terms of QALY, MAD performed better than CPAP after 12 months (€33.701 [-€191.106 to €562.271] per QALY gained). CONCLUSIONS: CPAP was more clinically effective (in terms of AHI reduction) and cost-effective than MAD. However, costs per QALY was better with MAD as compared to CPAP. Therefore, CPAP is the first-choice treatment option in moderate OSA and MAD may be a good alternative. CLINICAL TRIAL REGISTRATION: Registry: ClinicalTrials.gov; Identifier: NCT01588275.

Leg muscle strength is reduced and is associated with physical quality of life in Antineutrophil cytoplasmic antibody-associated vasculitis.

OBJECTIVE: Physical quality of life is reduced in ANCA-associated vasculitis (AAV). This study aims to investigate whether this may be explained by reduced muscle strength and physical activity resulting from disease damage and steroid myopathy. METHODS: Forty-eight AAV patients were sequentially included from the outpatient clinic. Patients in different stages of disease and treatment underwent measurements of muscle strength and anthropometric parameters. Patients filled in physical activity (Baecke) and quality of life questionnaires (RAND-36) and carried an accelerometer for a week. Muscle strength and physical activity were compared to quality of life, prednisolone use and disease duration. RESULTS: Most AAV patients had lower knee extension (76%) and elbow flexion (67%) forces than expected based on healthy norms. Also, physical (P<0.001) and mental (P = 0.01) quality of life were significantly reduced compared to healthy norm values. Lower knee extension force (P = 0.009), younger age <70 (P<0.001) and relapse of vasculitis (P = 0.003) were associated with lower age-adjusted physical quality of life. Lower Baecke index (P = 0.006), higher prednisolone dose (P = 0.005) and ENT involvement (P = 0.006) were associated with lower age-adjusted mental quality of life. Leg muscle strength showed no association with current or cumulative prednisolone use. Disease duration was longer in patients with knee extension force below healthy norms (P = 0.006). CONCLUSION: Knee extension force and physical activity are positively associated with quality of life in AAV. Knee extension force decreases with longer disease duration, suggesting that disease- and treatment-related damage have a cumulative negative effect on muscle strength.

Lack of analgesic effects of transcranial pulsed electromagnetic field stimulation in neuropathic pain patients: A randomized double-blind crossover trial.

BACKGROUND: Neuromodulation is nowadays investigated as a promising method for pain relief. Research indicates that a single 30-minute stimulation with transcranial pulsed electromagnetic fields (tPEMF) can induce analgesic effects. However, it is unknown whether tPEMF can induce analgesia in neuropathic pain patients. OBJECTIVE: To evaluate the effect of tPEMF on spontaneous pain and heat pain in neuropathic pain patients. METHODS: This study had a randomized double-blind crossover design. Twenty neuropathic pain patients received 30-minutes of tPEMF and 30-minutes sham stimulation. Primary outcomes were pain intensity, pain aversion and heat pain. Secondary outcomes included affect, cognition, and motor function, to investigate safety, tolerability and putative working mechanisms of tPEMF. Outcomes were assessed before, during and after stimulation. RESULTS: No differences in analgesic effects between tPEMF and sham stimulation were found for pain intensity, pain aversion or heat pain. No differences between tPEMF and sham stimulation were observed for affect, motor, and cognitive outcomes. CONCLUSION: A single 30-minute tPEMF stimulation did not induce analgesic effects in neuropathic pain patients, compared to sham. Further study is needed to determine whether prolonged stimulation is necessary for analgesic effects.

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia.

Aim: In children, gait and posture assessment provides a crucial marker for the early characterization, surveillance and treatment evaluation of early onset ataxia (EOA). For reliable data entry of studies targeting at gait and posture improvement, uniform quantitative biomarkers are necessary. Until now, the pediatric test construct of gait and posture scores of the Scale for Assessment and Rating of Ataxia sub-scale (SARA) is still unclear. In the present study, we aimed to validate the construct validity and reliability of the pediatric (SARAGAIT/POSTURE) sub-scale. Methods: We included 28 EOA patients [15.5 (6-34) years; median (range)]. For inter-observer reliability, we determined the ICC on EOA SARAGAIT/POSTURE sub-scores by three independent pediatric neurologists. For convergent validity, we associated SARAGAIT/POSTURE sub-scores with: (1) Ataxic gait Severity Measurement by Klockgether (ASMK; dynamic balance), (2) Pediatric Balance Scale (PBS; static balance), (3) Gross Motor Function Classification Scale -extended and revised version (GMFCS-E&R), (4) SARA-kinetic scores (SARAKINETIC; kinetic function of the upper and lower limbs), (5) Archimedes Spiral (AS; kinetic function of the upper limbs), and (6) total SARA scores (SARATOTAL; i.e., summed SARAGAIT/POSTURE, SARAKINETIC, and SARASPEECH sub-scores). For discriminant validity, we investigated whether EOA co-morbidity factors (myopathy and myoclonus) could influence SARAGAIT/POSTURE sub-scores. Results: The inter-observer agreement (ICC) on EOA SARAGAIT/POSTURE sub-scores was high (0.97). SARAGAIT/POSTURE was strongly correlated with the other ataxia and functional scales [ASMK (rs = -0.819; p < 0.001); PBS (rs = -0.943; p < 0.001); GMFCS-E&R (rs = -0.862; p < 0.001); SARAKINETIC (rs = 0.726; p < 0.001); AS (rs = 0.609; p = 0.002); and SARATOTAL (rs = 0.935; p < 0.001)]. Comorbid myopathy influenced SARAGAIT/POSTURE scores by concurrent muscle weakness, whereas comorbid myoclonus predominantly influenced SARAKINETIC scores. Conclusion: In young EOA patients, separate SARAGAIT/POSTURE parameters reveal a good inter-observer agreement and convergent validity, implicating the reliability of the scale. In perspective of incomplete discriminant validity, it is advisable to interpret SARAGAIT/POSTURE scores for comorbid muscle weakness.

Tremor Detection Using Parametric and Non-Parametric Spectral Estimation Methods: A Comparison with Clinical Assessment.

In the clinic, tremor is diagnosed during a time-limited process in which patients are observed and the characteristics of tremor are visually assessed. For some tremor disorders, a more detailed analysis of these characteristics is needed. Accelerometry and electromyography can be used to obtain a better insight into tremor. Typically, routine clinical assessment of accelerometry and electromyography data involves visual inspection by clinicians and occasionally computational analysis to obtain objective characteristics of tremor. However, for some tremor disorders these characteristics may be different during daily activity. This variability in presentation between the clinic and daily life makes a differential diagnosis more difficult. A long-term recording of tremor by accelerometry and/or electromyography in the home environment could help to give a better insight into the tremor disorder. However, an evaluation of such recordings using routine clinical standards would take too much time. We evaluated a range of techniques that automatically detect tremor segments in accelerometer data, as accelerometer data is more easily obtained in the home environment than electromyography data. Time can be saved if clinicians only have to evaluate the tremor characteristics of segments that have been automatically detected in longer daily activity recordings. We tested four non-parametric methods and five parametric methods on clinical accelerometer data from 14 patients with different tremor disorders. The consensus between two clinicians regarding the presence or absence of tremor on 3943 segments of accelerometer data was employed as reference. The nine methods were tested against this reference to identify their optimal parameters. Non-parametric methods generally performed better than parametric methods on our dataset when optimal parameters were used. However, one parametric method, employing the high frequency content of the tremor bandwidth under consideration (High Freq) performed similarly to non-parametric methods, but had the highest recall values, suggesting that this method could be employed for automatic tremor detection.

Cognitive deficits after aneurysmal and angiographically negative subarachnoid hemorrhage: Memory, attention, executive functioning, and emotion recognition.

OBJECTIVE: The authors' aim was to investigate cognitive outcome in patients with aneurysmal and angiographically negative subarachnoid hemorrhage (aSAH and anSAH), by comparing them to healthy controls and to each other. Besides investigating cognitive functions as memory and attention, they focused on higher-order prefrontal functions, namely executive functioning (EF) and emotion recognition. METHOD: Patients and healthy controls were assessed with tests measuring memory (15 Words Test, Digit Span), attention and processing speed (Trail Making Test A and B), EF (Zoo Map, Letter Fluency, Dysexecutive Questionnaire), and emotion recognition (Facial Expressions of Emotion Stimuli and Tests). Between-groups comparisons of test performances were made. RESULTS: Patients with aSAH scored significantly lower than healthy controls on measures of memory, processing speed, and attention, but anSAH patients did not. In the higher-order prefrontal functions (EF and emotion recognition), aSAH patients were clearly impaired when compared to healthy controls. However, anSAH patients did not perform significantly better than aSAH patients on the majority of the tests. CONCLUSIONS: In the subacute phase after SAH, cognitive functions, including the higher-order prefrontal functions EF and emotion recognition, were clearly impaired in aSAH patients. Patients with anSAH did not perform better than aSAH patients, which indicates that these functions may also be affected to some extent in anSAH patients. Considering the importance of these higher-order prefrontal functions for daily life functioning, and following the results of the present study, tests that measure emotion recognition and EF should be part of the standard neuropsychological assessment after SAH. (PsycINFO Database Record

[How to deal with blast injuries. 15 tips for healthcare providers]. / Wat te doen bij een bomaanslag? 15 tips.

The recent terror attacks in Paris and Brussels have made the subject of injuries caused by explosives, also known as 'blast injuries', a very current one. The Netherlands has limited experience with terrorist attacks. This means that Dutch medical care providers possibly do not have sufficient knowledge about dealing with blast injuries. After explaining the mechanisms of explosions and the effects that these have on the human body, we go on to provide 15 tips on the main principles of treating blast injuries. These tips will help healthcare providers to deal with the complex requirements of victims of terror.

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III.

In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic" (GSD-I) and "myopathic" (GSD-III) phenotypes, we cross-sectionally assessed muscle ultrasound density (MUD) and muscle force. Children with both "hepatic" and "myopathic" GSD phenotypes had elevated MUD values (MUD Z-scores: GSD-I > 2.5 SD vs. GSD-III > 1 SD, p < 0.05) and muscle weakness (GSD-I muscle force; p < 0.05) of myopathic distribution. In "hepatic" GSD-I adults, MUD stabilized (GSD-I adults vs. GSD-I children, not significant), concurring with moderate muscle weakness (GSD-I adults vs. healthy matched pairs, p < 0.05). In "myopathic" GSD-III adults, MUD increased with age (MUD-GSD III vs. age: r = 0.71-0.83, GSD-III adults > GSD-III children, p < 0.05), concurring with pronounced muscle weakness (GSD-III adults vs. GSD-I adults, p < 0.05) of myopathic distribution. Children with "hepatic" and "myopathic" GSD phenotypes were both found to have myopathy. Myopathy stabilizes in "hepatic" GSD-I adults, whereas it progresses in "myopathic" GSD-III adults. Muscle ultrasonography provides an excellent, non-invasive tool for neuromuscular surveillance per GSD phenotype.

Validity and Predictive Value of a Portable Two-Channel Sleep-Screening Tool in the Identification of Sleep Apnea in Patients With Heart Failure.

BACKGROUND: Sleep apnea is an important comorbidity in heart failure (HF) and is associated with an adverse outcome. Diagnosing sleep apnea is difficult, and polysomnography, considered to be the criterion standard, is not widely available. We assessed the validity of a portable 2-channel sleep-screening tool for the identification of sleep apnea in patients with HF. METHODS AND RESULTS: One hundred patients with stable HF had simultaneous recordings of home-based polysomnography and the screening tool (Apnealink). To compare the apnea-hypopnea index of the screening tool with polysomnography, intraclass correlation (ICC), sensitivity, and specificity were calculated, and a Bland-Altman plot and receiver operating characteristic (ROC) curves were constructed. Ninety valid measurements with the screening tool were obtained (mean age 65.5 ± 11.0 y, 72% male, mean left ventricular ejection fraction 34.6 ± 11.0%). Agreement between the screening tool and polysomnography was high (ICC 0.85). The optimal cutoff value was apnea-hypopnea index ≥15/h (area under the ROC curve 0.94). Sensitivity and specificity were 92.9% and 91.9%, respectively. CONCLUSIONS: The screening tool is useful in excluding the presence of sleep apnea in HF patients to refer only high-risk patients for more extensive polysomnography. This method may potentially reduce the need for the more expensive polysomnography.

Usage of positional therapy in adults with obstructive sleep apnea.

STUDY OBJECTIVES: Many positional therapy (PT) strategies are available for treating positional obstructive sleep apnea (OSA). PT is primarily supplied to selected patients as a secondary treatment option when other therapies have failed. To our knowledge this is the largest study to date to assess effectiveness and long-term compliance of PT (both commercial waistband and self-made constructions, mimicking the tennis ball technique) as primary treatment in patients with different positional OSA severities. METHODS: PT was used by 53 patients, of which 40 patients underwent a follow-up polygraphic evaluation under treatment after a median time interval of 12 weeks. Patients were routinely contacted regarding their clinical status and treatment compliance. RESULTS: PT was successful in 27 out of 40 patients (68%). Overall AHI reduced significantly from a median (interquartile range [IQR]) AHI of 14.5 (10.7-19.6) to 5.9 (3.1-8.5), p < 0.001. The commercial waistband and self-made constructions were equally effective (median (IQR) reduction in overall AHI (Δ9.6 (5.5-11.9) and Δ6.8 (3.2-11.3) respectively), p = 0.22). Short-term compliance was good as most patients used PT more than 7 hours/night (mean 7.2 ± SD 1.4) and more than 6 days/ week (mean 6.5 ± SD 1.3). However, after mean 13±5 months, 26 patients (65%) reported they no longer used PT, especially patients with moderate positional OSA (89%). CONCLUSIONS: On the short-term, PT using the tennis ball technique, is an easy method to treat most patients with positional OSA, showing significant reductions in AHI. Unfortunately, long-term compliance is low and close follow-up of patients on PT with regard to their compliance is necessary.

Visual screening of muscle ultrasound images in children.

In children, non-invasive muscle ultrasound (MU) imaging has become increasingly important for the detection of neuromuscular pathology, by either quantitative or visual assessment. MU quantification requires time, expertise and equipment. If application of visual MU screening provides reliable results, ubiquitous application could be advocated. Previously, we found that visual MU screening can reliably detect segmental neuromuscular alterations within a patient. Analogously, we reasoned that visual MU screening could discern pathologic MU images from healthy controls. We therefore investigated visual screening results by 20 clinical observers (involving 100 MU images, with [n = 53] and without [n = 47] neuromuscular pathology). MU screening revealed adequate sensitivity, specificity and negative predictive value (85%, 75% and 82%, respectively). MU-experienced observers revealed higher specificity than MU-inexperienced observers (86% vs. 69%, p = 0.005). We conclude that clinical observers can identify neuromuscular pathology by visual screening. To enhance specificity, a secondary view by an expert appears advisory.