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

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

Discriminant Validity And Reliability Of The Turkish Version Of Informant Questionnaire On Cognitive Decline In The Elderly (Iqcode-T)

The Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE) has been used as a measure of cognitive decline in different cultures. The purpose of the study was to establish the validity and reliability of the Turkish version of IQCODE (IQCODE-T) and the ability of the questionnaire to distinguish between older adults with DSM-IV-TR dementia (n = 100) and healthy control participants (n = 60). In addition, the power of the IQCODE-T to distinguish between patients with depression and dementia was investigated. The Mini-Mental State Examination (MMSE) was performed on all participants and the IQCODE-T was administered to their informants. The IQCODE-T, which was not associated with age or education of the patients, significantly differentiated patients with dementia and controls. The IQCODE-T also correctly classified 73% of depressed patients as "non-demented". Because it is easy to administer, not associated with age/education and yields fewer false-positive results than the MMSE in depression, the IQCODE-T can be used in the detection of dementia.WoSScopu

Overlapping frontoparietal networks for tactile and visual parametric working memory representations

Previous working memory (WM) research based on non-human primate electrophysiology and human EEG has shown that frontal brain regions maintain frequencies of flutter stimulation across different sensory modalities by means of a supramodal parametric WM code. These findings imply that frontal regions encode the memorized frequencies in a sensory-unspecific, quantitative format. Here, we explored which brain regions maintain information about frequencies provided by different sensory modalities at the level of activity pattern across fMRI voxel populations. Moreover, we sought evidence for a supramodal multivariate WM representation. Participants maintained the same set of frequencies of tactile vibration and visual flicker for a 6 s WM delay in a frequency discrimination task. A support vector regression model for multivariate pattern analysis was applied. We observed that sensory cortices were only selective for memoranda of their corresponding modalities, while frontoparietal regions exhibited distinguishable activity patterns to memorized frequencies regardless of sensory modality. A common multivariate code was not evident in our data. Collectively, we show that mnemonic representations for stimulus frequencies are maintained throughout the cortical hierarchy, in line with the suggested transformation of information across different representational formats. Although evidence for a supramodal multivariate code is absent, our findings underpin the generalized role of the frontoparietal cortex for maintaining quantitative information across sensory modalities

The role of the poputeal lymph nodes imaging for differentiating rheumatoid arthritis from osteoarthritis [Romatoi·d artri·ti·n osteoartri·tten ayirici tanisinda popli·teal lenf nodu görüntülemesi·ni·n yeri·]

• Objective: We wanted to assess the role of the popliteal lymph nodes for differentiating rheumatoid arthritis (RA) from osteoarthritis (OA) by using three dimensional-fast spoiled gradient echo (3D-FSPGR) MR imaging and colour doppler ultrasonography (CDU). • Material and Method: MR examination of the knee of 38 cases, 18 with rheumatoid arthritis (RA) and 20 with osteoarthritis (OA) were analyzed retrospectively. MR images were acquired with a 1.5-Tesla magnet. The MR imaging protocol consisted of 3D-FSPGR sequences in three planes. Images were reviewed to describe the number, size and centrally fatty changes of the popliteal lymph nodes. Additionally, these nodes were examined by CDU. Statistical Package for Social Sciences 11.0 program for Windows was performed for statistical analysis. • Results: The popliteal nodes were observed in 88.8% of RA cases and 30% of OA cases. The number of the nodes in the RA and OA group was 53, and 8, respectively. The mean size of the lymph nodes in the RA and OA group was 7.4mm, and 3.6mm, respectively. Central fatty was observed in 100% of OA cases and in 60.4% of RA cases. The hiler vascularization was observed in the only 13% of RA cases. Mean value of the RI was determined as 0.62+/-0.005. • Conclusion: Differentiating RA from OA, the criteria of the number, sizes and central fatty changes of the popliteal lymph nodes showed statistical significance. Performing 3D-FSPGR sequence in knee MR imaging might useful to describe these nodes. The hiler vascularization with low RIs in CDU is also helpful criteria to differentiating RA from OA