Possible role of SCN4A skeletal muscle mutation in apnoea during seizure

SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A mutations in association with sudden infant death syndrome. Laryngospasm has also been proposed as a contributory mechanism to some cases of sudden unexpected death in epilepsy (SUDEP). We report an infant with EEG‐confirmed seizures and recurrent apneas. Whole‐exome sequencing identified a known pathogenic mutation in the SCN4A gene that has been reported in several unrelated families with myotonic disorder. We propose that the SCN4A mutation contributed to the apneas in our case, irrespective of the underlying cause of the epilepsy. We suggest this supports the notion that laryngospasm may contribute to some cases of SUDEP, and implicates a possible shared mechanism between a proportion of sudden infant deaths and sudden unexpected deaths in epilepsy

Close binary stars in the solar-age Galactic open cluster M67

We present multi-colour time-series CCD photometry of the solar-age galactic open cluster M67 (NGC 2682). About 3600 frames spread over 28 nights were obtained with the 1.5 m Russian-Turkish and 1.2 m Mercator telescopes. High-precision observations of the close binary stars AH Cnc, EV Cnc, ES Cnc, the $\delta$ Scuti type systems EX Cnc and EW Cnc, and some long-period variables belonging to M67 are presented. Three full multi-colour light curves of the overcontact binary AH Cnc were obtained during three observing seasons. Likewise we gathered three light curves of EV Cnc, an EB-type binary, and two light curves of ES Cnc, a blue straggler binary. Parts of the light change of long-term variables S1024, S1040, S1045, S1063, S1242, and S1264 are obtained. Period variation analysis of AH Cnc, EV Cnc, and ES Cnc were done using all times of mid-eclipse available in the literature and those obtained in this study. In addition, we analyzed multi-colour light curves of the close binaries and also determined new frequencies for the $\delta$ Scuti systems. The physical parameters of the close binary stars were determined with simultaneous solutions of multi-colour light and radial velocity curves. Finally we determined the distance of M67 as 857(33) pc via binary star parameters, which is consistent with an independent method from earlier studies.Comment: 12 pages, 9 Figures, 13 Table

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

Abstract: Background: Biallelic loss‐of‐function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives: To fully characterize, both phenotypically and genotypically, NDUFA12‐related mitochondrial disease. Methods: We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature. Results: Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities (n = 6), optic atrophy (n = 2), or was unremarkable (n = 1). All carried homozygous truncating NDUFA12 variants, three of which are novel. Conclusions: Our case series expands phenotype–genotype correlations in NDUFA12‐associated mitochondrial disease, providing evidence of intra‐ and inter‐familial clinical heterogeneity for the same variant. It confirms NDUFA12 variants should be included in the diagnostic workup of Leigh/Leigh‐like syndromes – particularly with dystonia – as well as isolated optic atrophy

Online learners’ interactions and social anxiety: the social anxiety scale for e-learning environments (SASE)

Social sharing in virtual learning environments differs from real environments, resulting in a need for a specialized data collection tool related to social anxiety in these environments. This study seeks to develop a scale to identify the levels of social anxiety experienced in e-learning. The study group consists of 275 students who have previously experienced an online or a blended learning environment. The data were analyzed through exploratory factor analysis, confirmatory factor analysis, convergent and divergent validity tests. The interpersonal interactions of learners in online environments were considered in developing the tool. Two subscale forms were created to identify the levels of social anxiety in learner-learner interaction and learner-instructor interaction. Each subscale of the Social Anxiety Scale for E-Learning Environments (SASE) consists of 23 items and three subfactors. These sub-factors are called negative evaluation, somatic symptoms and avoidance of interaction. The analyses indicate that the SASE is a reliable and valid measurement tool useful for assessing the social anxiety levels of online learners. © 2020 Informa UK Limited, trading as Taylor ; Francis Group

Online learners’ interactions and social anxiety: the social anxiety scale for e-learning environments (SASE)

2-s2.0-85086790220Social sharing in virtual learning environments differs from real environments, resulting in a need for a specialized data collection tool related to social anxiety in these environments. This study seeks to develop a scale to identify the levels of social anxiety experienced in e-learning. The study group consists of 275 students who have previously experienced an online or a blended learning environment. The data were analyzed through exploratory factor analysis, confirmatory factor analysis, convergent and divergent validity tests. The interpersonal interactions of learners in online environments were considered in developing the tool. Two subscale forms were created to identify the levels of social anxiety in learner-learner interaction and learner-instructor interaction. Each subscale of the Social Anxiety Scale for E-Learning Environments (SASE) consists of 23 items and three subfactors. These sub-factors are called negative evaluation, somatic symptoms and avoidance of interaction. The analyses indicate that the SASE is a reliable and valid measurement tool useful for assessing the social anxiety levels of online learners. © 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group

Clinical, pathological and radiological survey of patients with Leigh syndrome.

Aim. The aim of this study was to evaluate the clinical, pathological and radiological survey of patients affected by Leigh syndrome. Methods. Eleven patients with Leigh disease were evaluated at Dokuz Eylül University, School of Medicine, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history. Muscle biopsy from quadriceps muscle, brain magnetic resonance imaging and brain magnetic spectroscopy were obtained. Results. The patients were aged between 1 month and 8 years (mean age: 2.29±2.58 years). The most common presentation findings were psychomotor retardation and acute metabolic encephalopathy. All patients had elevated lactate in the blood and/or cerebrospinal fluid. Except in two patients, brain magnetic resonance imaging revealed abnormal symmetrical lesions in the brainstem and basal ganglia. Brain magnetic resonance spectroscopy revealed abnormal lactate peak in all patients. The muscle biopsy of two patients showed cytocrom-c oxidase deficiency and measurement of respiratory chain complex in one patient revealed complex I and IV deficiency. One patient was found to carry mitochondrial T8993C mutation. Conclusion. There are no specific markers for Leigh disease which lead to extensive work-up. The disease should be considered in patients who present progressive neurologic symptoms involving brainstem and basal ganglia