Johannes H. van der Hoeven

Muscle ultrasound analysis : Normal values and differentiation between myopathies and neuropathies

In this study, 145 healthy adults (20 to 94 years old, 69 women) were examined using ultrasound (US) imaging to obtain reference values of muscle parameters that were previously not available. We measured biceps and quadriceps sizes and subcutaneous fat thickness. To quantify muscle aspect, we defined and calculated the muscle aspect parameters muscle density, inhomogeneity and white-area index by digital image analysis. All muscle aspect parameters were found to increase with age, which may be due to age-related muscle replacement by fatty tissue and collagen. Other age-, weight- and gender-dependencies are also discussed. The complete set of muscle parameters was used to differentiate between typical myopathies and neuropathies in a group of 32 patients (24 to 79 years old, 18 women). We were successful in almost completely separating the two types of disorders based on abnormality of muscle aspect parameters alone. These preliminary results show that this set of normal muscle parameters can be used to help diagnose neuromuscular disorders. It will also facilitate follow-up in disease progression and therapy.

Original contributionMuscle ultrasound analysis: normal values and differentiation between myopathies and neuropathies

In this study, 145 healthy adults (20 to 94 years old, 69 women) were examined using ultrasound (US) imaging to obtain reference values of muscle parameters that were previously not available. We measured biceps and quadriceps sizes and subcutaneous fat thickness. To quantify muscle aspect, we defined and calculated the muscle aspect parameters muscle density, inhomogeneity and white-area index by digital image analysis. All muscle aspect parameters were found to increase with age, which may be due to age-related muscle replacement by fatty tissue and collagen. Other age-, weight- and gender-dependencies are also discussed. The complete set of muscle parameters was used to differentiate between typical myopathies and neuropathies in a group of 32 patients (24 to 79 years old, 18 women). We were successful in almost completely separating the two types of disorders based on abnormality of muscle aspect parameters alone. These preliminary results show that this set of normal muscle parameters can be used to help diagnose neuromuscular disorders. It will also facilitate follow-up in disease progression and therapy.

Does fetal endoscopic closure of the myelomeningocele prevent loss of neurologic function in spina bifida aperta

Background Spina bifida aperta (SBA) is associated with shuntdependent hydrocephalus and with meningomyelocele (MMC). Fetal endoscopic closure of the MMC may reduce shunt-dependency, but the benefit upon motor function in individual patients is still unclear. An increase in differentiated muscle ultrasound density (dMUD) provides an objective parameter for the extent of muscle damage caudal to the MMC. In this perspective, we aimed to compare dMUD and neurological function between SBA children treated by fetal endoscopic closure (fSBA) and by neonatal closure (nSBA) of the MMC.

Oral Appliance Versus Continuous Positive Airway Pressure in Obstructive Sleep Apnea Syndrome: A 2-Year Follow-up

STUDY OBJECTIVES Oral appliance therapy has emerged as an important alternative to continuous positive airway pressure (CPAP) in treating patients with obstructive sleep apnea syndrome (OSAS). In this study we report about the subjective and objective treatment outcome of oral appliance therapy and CPAP in patients with OSAS. DESIGN Cohort study of a previously conducted randomized clinical trial. SETTING University Medical Center, Groningen, The Netherlands. PATIENTS OR PARTICIPANTS One hundred three patients with OSAS. INTERVENTIONS CPAP and oral appliance therapy (Thornton Adjustable Positioner type-1, Airway Management, Inc., Dallas, TX, USA). MEASUREMENTS AND RESULTS Objective (polysomnography) and subjective (Epworth Sleepiness Scale, Functional Outcomes of Sleep Questionnaire, Medical Outcomes Study 36-item Short Form Health Survey [SF-36]) parameters were assessed after 1 and 2 years of treatment. Treatment was considered successful when the apnea-hypopnea index (AHI) was < 5 or showed substantial reduction, defined as reduction in the index of at least 50% from the baseline value to a value of < 20 in a patient without OSAS symptoms while undergoing therapy. Regarding the proportions of successful treatments, no significant difference was found between oral appliance therapy and CPAP in treating mild to severe OSAS in a 2-year follow-up. More patients (not significant) dropped out under oral appliance therapy (47%) compared with CPAP (33%). Both therapies showed substantial improvements in polysomnographic and neurobehavioral outcomes. However, CPAP was more effective in lowering the AHI and showed higher oxyhemoglobin saturation levels compared to oral appliance therapy (P < 0.05). CONCLUSIONS Oral appliance therapy should be considered as a viable treatment alternative to continuous positive airway pressure (CPAP) in patients with mild to moderate obstructive sleep apnea syndrome (OSAS). In patients with severe OSAS, CPAP remains the treatment of first choice. CLINICAL TRIAL INFORMATION The original randomized clinical trial, of which this study is a 2-year follow-up, is registered at ISRCTN.org; identifier: ISRCTN18174167; trial name: Management of the obstructive sleep apnea-hypopnea syndrome: oral appliance versus continuous positive airway pressure therapy; URL: http://www.controlled-trials.com/ISRCTN18174167.

Fetal endoscopic myelomeningocele closure preserves segmental neurological function

Aim  Our aim was to compare the effect of prenatal endoscopic with postnatal myelomeningocele closure (fetally operated spina bifida aperta [fSBA]) versus neonatally operated spina bifida aperta [nSBA]) on segmental neurological leg condition.

EEG coherence obtained from an auditory oddball task increases with age

Summary: Changes in coherence with aging during cognitive tasks have, until now, not been investigated. However, several fMRI and positron emission tomography studies of cognitive tasks have found increased bilateral activity in elderly subjects. Changes in coherence with aging during a cognitive task were investigated to see if EEG coherence was present in older adults. An auditory oddball task, which is a widely used test for cognitive function, was used. Eleven young adults (27.8 ± 4.8 years, six females) and 10 older adults (61.3 ± 4.6 years, six females) were studied, and both interhemispheric and long- and short-range intrahemispheric coherence were considered. Higher interhemispheric coherence was found in the older subjects in the delta band. Short intrahemispheric coherence was also increased in the theta, delta, and alpha bands. Higher coherence, although not significantly different, was also found for all other coherence types and bands, except for long intrahemispheric coherence in the low gamma band. The results presented here provide the first evidence that aging is associated with increased EEG coherence during a relatively easy cognitive task.

Coherence analysis differentiates between cortical myoclonic tremor and essential tremor

Familial cortical myoclonic tremor with epilepsy (FCMTE) is characterized by a distal kinetic tremor, infrequent epileptic attacks, and autosomal dominant inheritance. The tremor is thought to originate from the motor cortex. In our patient group, a premovement cortical spike could not be established on electroencephalogram (EEG) back‐averaging. Corticomuscular and intermuscular coherence analysis can demonstrate a cortical common drive to muscles. We carried out coherence analysis of electromyography (EMG) of forearm muscles and EEG of contralateral motor cortex in 7 FCMTE patients, 8 essential tremor (ET) patients, and 7 healthy controls. Results showed strong cortico‐ and intermuscular coherence in the 8‐ to 30‐Hz range in the FCMTE patients, with EEG preceding EMG. Healthy controls and ET patients showed normal weak coherence around 20 Hz. The ET patients showed some additional coherence at tremor frequency (6 Hz), probably the result of sensory information flowing back to the sensorimotor cortex. These findings point to a pathological cortical drive in FCMTE patients leading to tremulous movements. Coherence analysis is an easy and useful method to differentiate FCMTE from ET. Coherence analysis is helpful when investigating a cortical common drive in cortical tremor and other movement disorders.

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

Purpose:  Pyridoxine‐dependent epilepsy (PDE) is characterized by therapy‐resistant seizures (TRS) responding to intravenous (IV) pyridoxine. PDE can be identified by increased urinary alpha‐aminoadipic semialdehyde (α‐AASA) concentrations and mutations in the ALDH7A1 (antiquitin) gene. Prompt recognition of PDE is important for treatment and prognosis of seizures. We aimed to determine whether immediate electroencephalography (EEG) alterations by pyridoxine‐IV can identify PDE in neonates with TRS.

The treatment of sleep-related painful erections

INTRODUCTION As specialists in male genital problems, urologists and sexologists will most likely to be involved in the treatment of males presenting with sleep-related painful erections (SRPEs). This means that this phenomenon needs to be recognized by urologists and sexologists, and that they should have knowledge of the current diagnostic and therapeutic approaches. Aim. To review the literature on SRPE and to find the best pharmacological treatment. Methods. Four personal clinical observations from two clinics and 29 other cases with SRPE found in PubMed were analyzed, especially regarding the results of pharmacological treatment. MAIN OUTCOME MEASURES The results of pharmacological treatment. RESULTS Many of the various treatments proved to be ineffective and only a few showed efficacy for a few weeks or months. The only effective drugs in the long term were baclofen, clonazepam, and clozapine. CONCLUSIONS Until now, the phenomenon of SRPE is not well understood. The rarity of the published cases undoubtedly does not reflect the actual occurrence of SRPE. Controlled double-blind pharmacological trials are needed, and long-term follow-up including polysomnography coupled with nocturnal penile tumescence and rigidity monitoring may provide further information about SRPE.

In children with Friedreich ataxia, muscle and ataxia parameters are associated.

Aim  In children with Friedreich ataxia (FRDA), ataxia is assessed using the surrogate marker the International Cooperative Ataxia Rating Scale (ICARS). We aimed to determine whether ICARS scores in children with FRDA are confounded by muscle weakness.