Aysin Kisabay

A database for screening and registering late onset Pompe disease in Turkey

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.

Evaluation of Visual Pathways using Visual Evoked Potentials in the Patients with Impaired Fasting Glucose and Impaired Glucose Tolerance

Abstract Purpose: There are many studies on degeneration of the ganglion cells using visual evoked potential (VEP) in Diabetes mellitus (DM). The present study intended to investigate whether the retinopathy findings would be helpful for detecting the degeneration to develop or not in retinal ganglion cells with the VEP test before being detectable in ophthalmoscopic examination on prediabetic patients. Materials and methods: The present study was conducted prospectively after obtaining approval from the Ethics Committee. In our study, the subjects were divided into three groups as impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and normal patients. They also underwent physical, ophthalmological and VEP examination. Three main components of VEP obtained from these groups were N75, P100, and N145 latency and N75-P100 amplitude. Results: The study participants consisted of the IFG group (n: 30, female/male ratio: 21/9; mean age: 49.17 ± 10.52 years), the IGT group (n: 30, female/male ratio: 23/7; mean age: 47.00 ± 11.09 years), and the Control Group (n: 40, female/male ratio: 30/10; mean age: 48.03 ± 10.96 years). Difference in sex and age between the study groups (p > 0.05). P100 latency was found to increase significantly in comparison between the IGT and Control Group for both eyes (p right: 0.003, p left: 0.001) whereas it did not increase significantly in the comparison between the IFG and the Control Group (p right: 0.065, p left: 0.116). Conclusion: It was observed that VEP may be a parameter of predictive value that might be used in evaluating prediabetic cases in terms of retinopathies similar to DM.

Association of myasthenia gravis and Behçet's disease: A case report

Myasthenia gravis is a disease of neuromuscular junction due to auto-immune destruction of the acetylcholine receptors. Behçets disease, on the other hand, is a multisystemic vascular-inflammatory disease. Both conditions are not common in the general population although their association has not been reported in the literature. We wanted to present our patient who developed clinical course of myasthenia gravis following discontinuation of medications due to complications of corticosteroid for Behçets disease. It was observed that clinical findings of myasthenia gravis recovered following restarting steroid treatment and he did not experience attacks of both conditions. Although Myasthenia gravis and Behçets disease are distinct entities clinically as well as in terms of pathogenesis, they share common physiopathological features and their treatment is based on their common features.

Evaluation of neurodegeneration through visual evoked potentials in restless legs syndrome.

Restless legs syndrome (RLS) is a disease characterized by some type of dysesthesia, an indescribable abnormal sensation in the extremities. Our objective was to determine whether the visual evoked potentials (VEP) can be used as a quantitative monitoring method to evaluate demyelination-remyelination and neurodegeneration in the patients with RLS. The present study was carried out prospectively. It was planned to determine normal or pathological conditions in the form of increased latency or decreased amplitude of VEP and to evaluate possible pathologies in the visual and retinal pathways at early stages and at months 3 and 6 of follow-up in the patients with RLS (with or without iron deficiency anemia), in those without RLS (at the time of diagnosis prior to any medical therapy) without any visual symptoms. It was observed that latency of VEP improved but didn’t return to normal limits following treatment with dopamin agonists, iron, or combination of both and that there was no significant difference between the post-treatment data and those of the control group. These results in combination with the fact that the latencies and amplitudes didn’t return to normal levels despite the 6-month-treatment but showed a progressive course with partial regeneration suggests that there was incomplete remyelination. It should be kept in mind that this syndrome is likely to be a part of neurodegenerative process.

Cerebral Venous Thrombosis: A Case Series and Literature Review

In this study, 15 patients who were being followed in a cerebrovascular diseases outpatient clinic with the diagnosis of cerebral venous thrombosis were retrospectively reviewed. The study aimed to assess and review their complaints at the time of presentation and during the clinical course as well as assess the etiological risk factors using new imaging modalities and new and old therapeutic modalities. Cerebral venous thrombosis was recognized as a rare and fatal condition when it was first defined; however, it currently presents with a better prognosis because of increased awareness, advanced neuroimaging techniques, and therapeutic methods. The use of dabigatran, which is a new therapeutic option, remains on the agenda particularly for avoiding drug interaction with warfarin in the patients with comorbidities and history of multiple medications. Dabigatran has a high rate of success with low incidence of side effects. (Yoğun Bakım Derg 2015; 6: 48-56)

Evaluation of the Severity of Sleep Complaints According to the Stages of Chronic Obstructive Pulmonary Disease

Objective: Impairment of continuity of the sleep due to arousals and stage changes commonly experienced by the patients with chronic obstructive pulmonary disease (COPD) cause sleep problems associated with insomnia or hypersomnia. These resultant sleep problems lead to impaired quality of life in the patients with COPD. The aim of this study was to evaluate complaints related to sleep-alertness in the patients with COPD in the setting in which subjective sleep tests and polysomnography investigation using scales of quality of life are unavailable. Materials and Methods: The present study included 70 patients with COPD (33 were men and 37 were women). First, the patients with symptoms of COPD were evaluated clinically and COPD was staged based on degree of restriction of airflow (GOLD 2011). Sleep-alertness situation of all patients was evaluated using Epworth Sleepiness Scale (ESS) and Pittsburgh Scale of Seep Quality (PSSQ). Results: No statistically significant relationship was observed between stage of COPD and results of subjective sleep tests. Conclusion: Although these results indicate that stage of disease does not impact sleepiness and quality of sleep in the patients with COPD, they support the fact that presence of COPD alone negatively affected quality of sleep.