Aslı Aksoy Gündoğdu

The Frequency of Fabry Disease among Young Cryptogenic Stroke Patients in the City of Sakarya

BACKGROUND Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. METHODS Acute ischemic stroke patients aged 18-55 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion. Patients with other recognized causes of stroke were excluded. The screening was performed for alpha-galactosidase A (α-Gal A) activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low plasma α-Gal A activity. RESULTS Among the 484 acute ischemic stroke patients, 54 (24 male, 44.4%) young cryptogenic stroke patients were enrolled. The α-Gal A activity was detected as low in 3 patients. c.[680G > A] p.[R227Q] missense mutation was identified in 2 male patients. The frequency of FD was calculated as 3.7%. CONCLUSIONS Our research is the first FD screening study in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients as it is a rare but potentially treatable entity.

Patent Foramen Ovale in Young Patients with Ischemic Stroke

INTRODUCTION: The foramen ovale is a hole in the interatrial septum in prenatal period, which is closed after birth with the increase of left atrium pressure. If it does not close, stroke due to parodoxically embolism, local thrombosis, arrhythmia and hypercoagulability can be seen. In this article, the frequency of patent foramen ovale (PFO) and atrial septal aneurysm (ASA), treatment approaches and follow-up results have been reported in young stroke patients. MATERIAL and METHODS: The files of 163 young stroke patients between 18 and 45 years of age who were followed up at our clinic were reviewed retrospectively. Transthoracic echocardiography (TTE) revealed PFO in 2 patients, ASA in 2 patients. Transeosophageal echocardiography (TEE) reported PFO in 5 patients. Age, gender, premorbid disease and antiaggregant-anticoagulant medical theraphy, routine tests, imaging, TTE and TEE findings, treatment protocols, stroke recurrence were recorded. RESULTS: PFO was detected in 5 of 163 young stroke patients (3.06%) (3K, 2E). The average age was 30.2 (18-42). One patient had transient ischemic attack and 4 patients had stroke. There was a 1 patient has a previous stroke and 2 patients were smokers. Carotis stenosis was not detected in patients. ANA was positive in recurrent stroke patient, another patient had recurrent abortion, heterozygote mutation of FVL, MTHFR C677T and A1298C and hyperhomocysteinemia. One patient had PFO and no other pathological result for etiological investigation. Endovascular closure was performed in 2 _____________________________________________________________________________________________________________________________ Yazışma Adresi: Uzm. Dr. Zeynep Özözen Ayas Yunus Emre Devlet Hastanesi, Nöroloji Kliniği, Eskişehir. E-mail: zozozen@hotmail.com Telefon: 02222219595 Geliş Tarihi: 11.01. 2018 Kabul Tarihi: 25.05.2018 Received: 11.01.2018 Accepted: 25.05.2018 Bu makale şu şekilde atıf edilmelidir: Özözen Ayas Z, Aksoy Gündoğdu A, Üreyen Ç. M. Genç iskemik inmeli hastalarda patent foramen ovale. Türk Beyin Damar Hastalıkları Dergisi 2018; 24 (2): 46-51. doi: 10.5505/tbdhd.2018.21548

Benedikt's Syndrome: A Rare Case Report

Benedikt’s syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt ’s syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

The effect of vitamin D levels on pain in carpal tunnel syndrome

BACKGROUND Carpal tunnel syndrome (CTS) and vitamin D deficiency are two discrete common clinical pictures that can cause chronic pain. In this study, we aimed to evaluate the association of 25 (OH) D deficiency with electrophysiological findings and severity of pain in patients with mild CTS. METHOD The consecutive patients admitted to our laboratory with the symptoms of CTS between May 2016 and August 2016 were enrolled in this study. According to their electrophysiological examination results, only the patients with normal conduction results and ones with mild grade CTS were included. Demographic data, the results of the electrophysiological studies, vitamin D levels (our laboratory normal is>20ng/mL), duration of pain and pain intensity due to CTS, which was assessed with visual analog scale, were collected. RESULTS Totally, 76 patients (36 patients with mild CTS and 40 without CTS) were included. In the mild CTS patients, vitamin D levels were significantly lower than those electrophysiologically normal patients (P=0.003). The relationship between gender, duration of pain and vitamin D levels were evaluated in the normal and mild CTS group. There was no significant relationship between the pain and vitamin D levels in the normal group, while vitamin D level was significantly lower in the mild CTS group (P=0.730 and P=0.002; respectively). DISCUSSION Vitamin D deficiency increases the pain intensity in patients with CTS. Treatment of vitamin D deficiency in these patients may play a role in pain relief. Further studies involving analyses of post-vitamin D replacement therapy are warranted to confirm the association between vitamin D deficiency and pain due to CTS.

Prevalence of carpal tunnel syndrome and its correlation with pain amongst female hairdressers

OBJECTIVES Carpal tunnel syndrome (CTS) may develop with repetitive and forced movements of the hands and wrists. In this study, we have aimed to evaluate whether the frequency of CTS is increased amongst female hairdressers as compared with unemployed women or not. Besides, we have also analyzed whether the functionality and pain intensity levels amongst female hairdressers with CTS are different from the ones of unemployed women with CTS or not. MATERIAL AND METHODS The consecutive female hairdressers and unemployed women who had referred to our electroneuromyography (ENMG) laboratory for the upper extremity nerve conduction studies were included. They were evaluated in terms of clinical and ENMG findings, socio-demographic characteristics, functionality and pain intensity levels determined with the Boston CTS Questionnaire and visual analog scale (VAS). RESULTS In this study, 110 women (70 female hairdressers and 40 unemployed women) were included. The frequency of CTS among hairdressers (74.3%) was higher than the one of the unemployed control group (55%) (p = 0.032). We detected that as the time period of occupation in hairdressing increased, the risk of developing CTS also increased among hairdressers (p < 0.001). Additionally, pain intensity and functional loss levels were higher for hairdressers with CTS than those for the control group with CTS (p = 0.005, p < 0.001, p = 0.028, respectively). CONCLUSIONS The frequency of CTS is elevated for female hairdressers with respect to the unemployed women as in many other occupations requiring forced or repetitive hand movements. Besides, the occupational exposure in hairdressing also results in more elevated pain intensity and functional loss levels related with CTS as compared with the unemployed subjects. Int J Occup Med Environ Health 2018;31(3):333-339.

Diaphragm pacing system implanted in a patient with ALS

The diaphragm pacing system (DPS) is a life quality improving operation in amyotrophic lateral sclerosis (ALS) patients who need mechanical ventilation or have chronic respiratory insufficiency. This procedure is gaining in popularity, and the number of centers implanting diaphragm pacing systems (DPS) is increasing. DPS delays the need for a ventilation machine in the early stages of Amyotrophic lateral sclerosis (ALS) disease. In this case study, we present a young female ALS patient. A DPS was implanted after respiratory insufficiency began. In the one-year follow-up period following her operation, her need for ventilatory support disappeared.