Cervical Spine Dysmorphism: Report Of Two Unusual Cases Of Craniovertebral Junction

Craniocervical junction anomalies are rare and their classification is considerably complex. Here we report two unusual cases of cervical spine dysmorphism presenting with the absence of posterior vertebral elements which are also accompanied with Wildervanck syndrome and hydrocephalus. The first case was a 17-year-old female who presented with short stature, broad neck, coarse voice, deafness as well as bilateral lateral gaze paresis. Cervical computerized tomography (CT) and magnetic resonance imaging (MRI) revealed the absence of posterior vertebral elements of cervical spine including partial agenesis of suboccipital bone, rotational deformity of cervical column, Chiari abnormality and cystic cavitation of cervical spinal cord. Additionally dextrocardia, which has not been defined as a feature of Wildervanck syndrome yet, was a marked feature of chest X-ray. The second case was a 32-year-old male presenting with complaints of gait disturbance, dysphonia, severe neck pain, short stature and scoliosis. Cervical X-ray, CT and MRI revealed severe basilar invagination, absence of dorsal elements of first two cervical vertebrae and hydrocephalus. Despite the absence of whole posterior cervical vertebral elements and even occipital bone, basilar invagination was not a predominant feature in the first case. We conclude that presence of a stable ligamentous structure only in anterior cervical column may have contributed to the strength of craniocervical junction and explains the absence of basilar invagination for Case 1.WoSScopu

Staff transportation two way on the belt conveyor

Wide range of systems has been developed in order to transport coal miners to their working locations safely as well as quickly and efficiently. Among these systems, making use of a coal dispatching belt conveyor system for man riding is an alternative technique. Undoubtedly, the most significant subject that comes out while performing the man riding is to take all the mine safety precautions to eliminate the accident risk

Endoscopic Untethering of Tight Filum Terminate: An Operative Technique

AIM: To demonstrate the various technical advantages of minimally invasive endoscopic untethering of tight filum terminale for the treatment of tethered cord syndrome (TCS)

Depression, anxiety levels and sleep quality indexes among the spouses of people with epilepsy

Background: Psychiatric problems and sleep disturbances are comorbidities that are frequently encountered among people with epilepsy. However, their presence among the spouses of peoples with epilepsy remains to be elucidated. Objective: The objective of this study was to evaluate the spouses of people with epilepsy (PWE), with and without a history of seizures during sleep, in terms of depression, anxiety and sleep quality. Methods: This prospective, cross-sectional study was conducted in three groups of 18 to 65-year-olds. Group 1 consisted of healthy spouses of 127 healthy volunteers without any known neurological disease; group 2 comprised spouses of 63 PWE who had no history of seizure during sleep; and group 3 consisted of spouses of 63 PWE who had a history of at least one seizure during sleep in the course of the previous year. Questionnaires seeking demographic data and the Pittsburgh Sleep Quality Index (PSQI), Beck Depression Inventory and Beck Anxiety Inventory were applied to all participants. Results: The depression scores of the group of spouses of PWE were higher than those of the control group and were higher in group 3 than in group 2 (p = 0.017). The anxiety scores of the group of spouses of PWE were significantly higher than those of the control group, but no difference in anxiety scores was found between group 2 and group 3 (p = 0.170). The mean PSQI score of group 3 was higher than that of group 2 (p = 0.029). However, regression analyses did not show any difference between these groups. Conclusion: We found that the PSQI scores, which reflected sleep quality, were higher among the spouses of PWE who had seizures during sleep and who had more severe epilepsy

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease