Neurology international
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Neurology international · Jun 2016
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.
Gordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation. We performed whole-exome sequencing and filtered the resulting novel variants by the coordinates of the shared autozygome. We identified a novel splicing variant in RNF216 that is likely to abolish the canonical splice site at the junction of exon/intron 13 (NM_207111.3:c.2061G>A). We herein report two patients with GHS caused by a novel RNF216 mutation as the first follow up report on RNF216-related GHS, and show interfamilial variability of phenotype supporting the previously reported RNF216-related cases.
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Neurology international · Apr 2016
The Stop-Bang Questionnaire as a Screening Tool for Obstructive Sleep Apnea-Induced Hypertension in Asian Population.
Obstructive sleep apnea (OSA) is a common public health issue. If left untreated, OSA may cause a large health economic burden from cardiovascular complications particularly stroke. The diagnosis of OSA can be made by polysomnography, but its availability is limited in the developing countries in Asia. ⋯ The best cutoff point for the BMI and the neck circumference were 24.5 kg/m(2) and 36 cm, respectively. The sensitivity and specificity of the BMI cutoff point were 97.2% and 91.40, while those of the neck circumference were 94.7% and 82.9%. In conclusion, the appropriate cutoff points of BMI and neck circumference for Thai STOP-BANG questionnaire were 25 kg/m(2) and 36 cm.
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Neurology international · Dec 2015
Anthropometry of Arm: Nutritional Risk Indicator in Amyotrophic Lateral Sclerosis.
The aim of the paper is to examine the correlation between clinical data, nutritional, respiratory and functional parameters in amyotrophic lateral sclerosis (ALS). This is a descriptive study of 111 ALS patients [91 spinal onset (GS) and 20 bulbar onset (GB)] carried on using nutritional and respiratory parameters and amyotrophic lateral sclerosis functional rating scale (ALSFRS). ALSFRS was analyzed in the main domains (D1, D2 and D3). ⋯ On correlation of nutritional parameters and ALSFRS for GS patients we observed that MAC and %MAC presented positive association with both issues of D1 and D2. For GB, the total score in addition to correlate positively with anthropometric parameters related to lean body mass also presented negative association with a parameter associated with body fat. In summary, it is suggested that the application of anthropometry of arm could be useful in routine monitoring of ALS patients.
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The aim of our study was to determine the levels of information and awareness of the nurses who work on neuropathic pain in the departments of physical medicine and rehabilitation, neurology and neurosurgery. A total of 60 nurses (20 per each department) who work in the physical medicine and rehabilitation, neurology and neurosurgery departments of Beyhekim State Hospital of Konya in Turkey took part in the study. The level of information and awareness of the nurses on neuropathic pain were assessed via a questionnaire prepared by specialists in the light of recent literature. ⋯ The findings obtained from the nurses of these three departments showed no statistically significant relation. Our findings indicated that the knowledge of participants' about neuropathic pain who work in these three departments seriously lack of information. Informing nurses about neuropathic pain during in-service training will be an important step towards improving the quality of services provided.
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Spinal dural arteriovenous fistula (SDAVF) is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature. We describe the case of a 74 year old male who presented with gradually progressive bilateral lower extremity weakness and bladder dysfunction and was subsequently diagnosed with SDAVF affecting both the thoracic and lumbar spine. The patient later underwent embolization with some improvement in his neurologic symptoms.