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Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole-exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patients presenting with muscular dystrophy or congenital or metabolic myopathy phenotype. Here, we used a panel with 47 genes including not only muscular dystrophy but also myopathy-associated genes that had been used as a first-tier approach. A total of 146 patients who were referred to our clinic with the prediagnosis of muscular dystrophy and/or myopathy were included in the study. Dystrophin gene deletion/duplication was ruled out on the patients with a preliminary diagnosis of Duchenne muscular dystrophy. In this study, the molecular etiology of 67 patients was proved with the gene panel with a diagnostic yield of 46%. Causal variants were identified in 23 genes including CAPN3(11), DYSF(9), DMD(8), SGCA(5), TTN(4), LAMA2(3), LMNA(3), SGCB(3), COL6A1(3), DES (2), CAV3(2), FKRP(2), FKTN(2), ANO5, COL6A2, CLCN1, GNE, POMGNT1, POMGNT2, POMT2, SYNE1, TCAP, and FLNC with 16 novel variants. There were 27 patients with uncertain molecular results including the ones who had a variant of uncertain significance, who had only one heterozygous variant for an autosomal recessive disease, and the ones who had two variants in different genes. Molecular diagnosis in muscular dystrophy is essential to plan clinical management and choosing treatment options. Also, the results will affect the reproduction options. Targeted next-generation sequencing is a cost-effective method that reduces the WES requirements with a significant diagnostic rate.

Objective: Guillain–Barre syndrome (GBS) still carries non-negligible morbidity and mortality. In this study, we aimed to evaluate the effect of demographic data, clinical findings, serum and cerebrospinal fluid (CSF) laboratory tests on detecting disability in the early period in GBS patients. Material and Methods: In our study, the records of 324 cases followed up with the diagnosis of GBS between January 1, 2018 and December 31, 2021 were retrospectively reviewed. Demographic data, complaints at admission, comorbid diseases, antecedent infections, neurological examination findings, Guillain–Barre disability score (GDSs) at day 1 and 1 month, serum and CSF laboratory parameters, electromyoneurography results, GBS subtypes, complications, treatments and prognoses were recorded. Results: In our study, which included 121 GBS patients, the median age was 58 (20-87) years. Of all patients, 60.3% (n:73) were male. The mean GDSs was 3 at admission and 2 at the end of the frst month. When the laboratory data were examined, C-reactive protein (CRP), cerebrospinal fluid protein were found to be high and vitamin D found to be low in GBS. Higher age, antecedent infections, intensive care unit (ICU) admission, need of mechanical ventilation (MV) support, presence of complications, high plasma CRP levels, neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) were signifcantly correlated with worse disability at day 1 and in the first month in GBS patients. Conclusion: Higher age, cranial nerve involvement, presence of antecedent infections, severe clinical onset (ICU and MV support), occurance of complications and increased inflammation markers (CRP, NLR, PLR) are early indicators of severe disability in GBS.

Purpose: To compare optical coherence tomography measurements; central macular thickness, ganglion cell complex, and retinal nerve fiber layer thickness in patients with epilepsy versus healthy controls. Methods: We evaluated 28 eyes of 28 patients with epilepsy and 34 eyes of 34 healthy subjects. Central macular thickness, ganglion cell complex, and retinal nerve fiber layer thickness measurements were performed by spectral-domain optical coherence tomography. Results: Superior and superotemporal quadrant ganglion cell complex, average, and superior quadrant retinal nerve fiber layer thickness measurements were significantly lower in epilepsy group compared to healthy control subjects. Central macular thickness was significantly lower in polytherapy group compared to monotherapy group. Ganglion cell complex and retinal nerve fiber layer thickness measurements were not significantly different between polytherapy and monotherapy groups. Conclusion: The present study shows that epileptic patients taking antiepileptic drugs have reduced ganglion cell complex and retinal nerve fiber layer thickness compared to healthy controls. This can be related to the epileptic process in the brain. Optical coherence tomography may be a useful tool for showing the neurodegeneration in patients with epilepsy.

To investigate the effect of botulinum neurotoxin-A (BTX-A) treatment on dry eye symptoms, tear meniscus, corneal topography and corneal aberrometry in patients with benign essential blepharospasm (BEB) and hemifacial spasm (HFS).This prospective study comprised of 6 patients with BEB and 20 patients with HFS. Tear meniscus height (TMH) and depth (TMD), tear break-up time (TBUT), corneal fluorescein staining score (CFSS), Schirmer I test, ocular surface disease index (OSDI) score, corneal topography [corneal power of flat axis (K1), corneal power of steep axis (K2), mean corneal power (Km), astigmatism and thinnest pachymetry] and anterior corneal aberrometry [spherical aberration (SA), vertical coma (vcoma), horizontal coma (hcoma), higher order root mean square (hRMS) and total RMS] were evaluated before BTX-A treatment, 3 weeks after BTX-A treatment and 2 months after BTX-A treatment.Six patients with BEB and 20 patients with HFS treated with BTX-A were evaluated in this study. Twenty contralateral spasm free eyes of 20 HFS patients were taken as control group. TMH and TMD were found to be significantly higher in eyes with spasm at both 3 weeks and 2 months after injection (TMH: 279.0 ± 123.2 at pretreatment, 380.5 ± 174.7 at third week and 317.0 ± 125.5 at second month p 0.001 and p = 0.02, respectively), (TMD: 183.7 ± 59.7 at pretreatment, 235.7 ± 91.1 at third week and 209.8 ± 77.1 at second month p 0.01 and p = 0.015, respectively). TBUT, CFSS, Schirmer I test values were similar (p 0.05). OSDI scores decreased significantly from 29.6 ± 25.3 to 19.8 ± 20. p = 0.03 at third week and increased again by second month. K2 (43.9 ± 1.7 vs. 43.7 ± 1.6, p = 0.03) and astigmatism (0.8 ± 0.5 vs. 0.6 ± 0.4, p = 0.04) values were significantly lower at third week and increased again by second month. Pachymetry and aberrometric values did not change significantly. In the control group only Schirmer I test value decreased significantly at second month (10.5 ± 6.5 vs. 7.2 ± 5.6, p = 0.008), other parameters did not change.BTX-A injection increases tear meniscus and decrease symptoms related to dry eye disease in BEB and HFS patients. It decrease astigmatism and keratometry values, it does not cause a significant change in corneal aberrations. However the positive effects of BTX-A injection on ocular surface is temporary.

Cerebral venous thrombosis (CVT) is a rare clinical condition between cerebrovasculer diases. The most common findings are headache, seizure and focal neurological deficit. Multiple cranial nerve palsy due to CVT is rarely seen and it is not clear pathology. A pathology that could explain the lack of cranial nerve imaging is carrying suspected diagnosis but the disease is known to provide early diagnosis and treatment. We want to emphasize with this case multipl cranial nerve palsy due to CVT is seen rarely and good response to treatment.

One-and-a half syndrome is seen in paramedian pontine lesions, and may also co-exist with cranial nerve paralysis. This clinical situation is called eight-and-a-half syndrome when facial nerve paralysis also accompanies this manifestation. A man aged 38 years was admitted with symptoms of sudden-onset binocular diplopia and dizziness. The patient had no known co-morbidities. Cranial magnetic resonance imaging showed a small-sized infarct in the left paramedian pontine tegmentum posterior area. In his neuro-ophthalmologic examination, total paresis of left eye horizontal movements, mild lateral deviation, and monocular nystagmus during abduction of the right eye were observed. The patient also had peripheral facial paralysis on the left side; therefore, no signs of motor deficit of his extremities were examined. Eight-and-a-half syndrome is a rare disorder that is seen in localized-small pons lesions, mostly accompanied by infarcts. This clinical manifestation is called eight-and-a-half syndrome and arises within lesions in both the parapontine reticular formation and the medial longitudinal fasciculus in the inferior pons tegmentum where horizontal eye movements are controlled, and facial axons adjacent to the nucleus of the sixth nerve. We wanted to present this case to emphasize this rare situation

It is aimed to investigate whether the restless legs syndrome (RLS) relates to change in the cerebral electrical activity spreading to daylight hours by the way of comparing the awake EEG of patients who were diagnosed as RLS with the healthy control group. The study was conducted on 23 patients diagnosed as RLS and 20 healthy volunteers. Information about the history of RLS study group, biochemical parameters in both groups, 18-channel scalp EEG recordings and polysomnographic recordings were evaluated. In the patient group, beta band in background activity in 13, rare slow-wave paroxysms in the ground alpha band in 8 and alpha band in 2 patients were detected, while in the control group alpha band at 15, the beta band in 4 people and mild paroxysmal nonspecific findings in 1 person were detected. In our study mostly seen background activity featured in the EEG of RLS patients were found to be the beta activity. This led us to consider that beta band may be a common finding in RLS especially in ones with insomnia.

Subarachnoid hemorrhage (SAH) associated with cerebral venous thrombosis (CVT) is rarely reported. In our case, the initial CT shows with suspected lesions that SAH. After the initial diagnosis of SVT with history and neurological examination findings MRV taken and consistend with thrombus signal change. Dural sinus thrombosis with secondary venous hypertension may lead to SAH into the subarachnoid space due to the rupture of fragile, thin-walled cortical veins. Patients with non-traumatic, non-aneurysmal and non-perimesencephalic subaracnoid hemorrhage tend to have clots circumscribed along the cortical convexity, a condition referred as acute cortical SAH. CVT is a potential cause of cortical SAH. This case; SAH may be the first sign of SVT and especially SVT must do in etiologic research without the involvement of the basal sisterna in cases of SAH.

Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary disease. It is characterized by early-onset contractures, slowly progressive weakness, fatigue related to skapulo-humero-peroneal muscle weakness, cardiomyopathy which develops in adulthood and cardiac conduction system block. Cardiac involvement has a prognostic significance in patients with EDMD and even sudden cardiac death may be the first clinical presentation. In this article, an EDMD patient with ischemic stroke clinic who didn’t have regular cardiac follow-up was reported and the importance of the treatment of cardiac diseases which could play a role in ischemic stroke etiology and the implantation of pace-maker was mentioned.

We aimed to evaluate the Stromal derived factor-1 alpha (SDF-1 α) levels that may be an indicator for impaired endothelial function in patients with obstructive sleep apnea syndrome (OSAS) and compare the results with those of controls who were diagnosed with simple snoring. In the presence of an elevation in SDF-1 α levels in patients with OSAS we also aimed to investigate whether or not a decrease could be managed after treatment with continuous positive airway pressure (CPAP). Twenty-six patients with a diagnosis of OSAS and 15 controls with a diagnosis of simple snoring were included. The patients and controls included in the study had whole-night polysomnography in the sleep laboratory. SDF-1 α levels of the two groups were measured after 8 h of fasting. The SDF-1 α levels of seven patients who continued CPAP treatment were measured again 2 months later. There was a statistical difference between the two compared groups according to basal SDF-1 α levels (P = 0.003). A statistical significance was found between the original basal levels and the levels after 2 months of treatment (P = 0.018) in the CPAP group. Measuring the plasma SDF-1 α levels might be a method to show the systemic endothelial damage induced by OSAS. The SDF-1 α level might be a biochemical parameter in discriminating OSAS from simple snoring and might be a predictive indicator for evaluating the compliance of treatment with CPAP in OSAS patients.

Ifosfamide (IFOS) which is a cytotoxic alkylating agent may cause central nervous system toxicity. Alpha-lipoic acid (ALA) has a strong antioxidant effects. We hypothesized that ALA could attenuate on ifosfamide-induced central neurotoxicity in rats. Rats were divided into Control, IFOS, ALA and IFOS+ALA groups. The toxic effects of IFOS were analyzed by oxidative parameters and caspase 3 immunohistochemical examinations of brain tissue. The catalase activity of IFOS group significantly reduced in comparison with control groups (p0.05). The malondialdehyde (MDA) level and protein carbonyl (PC) content in brain tissue were significantly higher in IFOS group than in the other groups (p0.05). ALA treatments significantly prevented the increase in MDA level (p0.001) and PC content (p0.05) in brain tissue. IFOS group showed profound activation of caspase 3. The control, ALA and IFOS+ALA groups did not show caspase 3 activation. It was concluded that ALA treatments may have beneficial effects protecting neurons from central neurotoxicity caused by IFOS.

The role of atherosclerosis in ischemic stroke has been intensively investigated in recent years, and homocysteine (Hcy) and lipoprotein(a) Lp(a) were found to have roles during the process. This study aims to investigate the relationship between acute ischemic stroke and Lp(a) and Hcy levels and to determine the prognosis and functional disability. Forty-one patients with acute ischemic stroke and 33 controls were included in the study. Lp(a) and Hcy levels were examined in both groups. The modified Rankin scale (MRS) scores at discharge and in the first and third months were determined to establish the functional disability and prognosis of stroke patients. In patients with acute ischemic stroke, Hcy levels were significantly higher than the controls (p = 0.003). There was no significant difference between Lp(a) levels in patients with acute ischemic stroke and controls (p = 0.150). Because there was a significant difference in terms of Hcy levels between the groups, it will be suitable to routinely monitor the Hcy levels of individuals who are known to have risk factors for stroke. Neither Lp(a) nor Hcy levels had any correlations with functional disability; therefore, it can be concluded that the Lp(a) and Hcy levels are inexpressive in predicting the functional disability and prognosis for ischemic stroke patients.

The "forced normalization" phenomenon is characterized by acute/subacute onset of psychotic symptoms in the early post-ictal period with dramatic improvement of electrophysiological epileptiform activity. A 56 years old female with going on personality changes, maladaptive behaviours and a mild cognitive impairment since last seizure which was forty-five days ago has been admitted. An evident increase was observed in her maladaptive behaviours with the use of levetiracetam. She began describing visual hallucinations and dejavu. Control EEG performed 24h after the seizure was completely normal. Levetiracetam therapy was replaced with phenytoin. Quetiapine therapy was also administered. Psychotic symptoms disappeared.

We aimed to investigate the effects of bone marrow derived mesenchymal stem cells (MSCs), minocycline, and these two therapies combined on functional and histological improvement in cerebral ischemic injury created rats.Twenty-eight Sprague Dawley female rats, weighing 250-300 g, were included in the study. Two male rats with similar properties were sacrificed for bone marrow derived MSC production. Group 1 was established as the control group. Group 2 was the group of only minocycline administered rats. Group 3 was the one of only MSCs administered rats. Group 4 was composed of the rats given the combination of MSCs and minocycline. Hematoxylin and eosin staining was done to assess the degeneration of the cells. Immunohistochemical staining was performed to evaluate the regeneration. Motor functions were examined by using Bederson's score.Cell degeneration was the least in group 4. The cells stained with GFAP were observed mostly in group 4. The cells stained with Neu N in group 1 were statistically lower than in other groups. When the groups were ordered in terms of functional improvement at the end of the second week, group 4 had the most and group 1 had the least.Bone marrow derived MSCs can lead to more histological and functional improvement when administered with minocycline, which is a neuroprotective agent as early as 24 h following the ischemic injury in a rat model. Minocycline therapy alone can be as effective as bone marrow derived MSCs therapy alone in ischemic cerebral rat model.

Due to the absence of myelin in retinal neurons, they represent a good structure to exhibit axonal degeneration in multiple sclerosis. Optical coherence tomography is a relatively new technique that shows axonal damage by measuring the retinal nerve fibre layer. The aim of this study is to investigate whether there is a relationship between OCT and visually evoked potentials and disability related to the disease in patients with multiple sclerosis. The study included 30 patients diagnosed as relapsing remitting multiple sclerosis, 10 as secondary progressive multiple sclerosis, and 20 control subjects. The P100 wave was obtained with pattern visually evoked potential. Optical coherence tomography was used to measure the retinal nerve fibre layer thickness. The findings were compared with Expanded Disability Status Scale scores in the patient groups. The secondary progressive group had thinner nerve fibre layer than the controls (P < 0.001). In both patient groups, P100 wave latency was more prolonged than...

Objectives: Obstructive sleep apnea syndrome (OSAS)which is characterized by recurrent pharyngeal narrowingand breathing disturbances, can affect central neuralsystem (CNS). S100B, which exerts neurotrophic andgliotrophic features, is a calcium binding protein. The aimof this study was to evaluate serum levels of S100B inpatients with OSAS.Materials and methods: Clinical and laboratory assessmentwere performed in 26 patients (5 women and 21men) with OSAS and 28 (8 women and 20 men) age-,body mass index (BMI)- and sex- matched healthy subjectsserved as controls . The patients included in thestudy had whole-night polysomnography (PSG) performedin the sleep laboratory. Measurements of S100Bwere done using the commercially available ELISA kit.Results: Patients and controls were well matched withregard to demographic characteristics. Serum S100Bconcentrations were 149.4±84.5 ng/L and 139.2±70.7ng/L for patients with OSAS and control subject, respectively.There was no statistically significant difference inserum S100B concentrations between OSAS and controlgroups (p>0.05).Conclusions: Serum S100B protein level in serum didnot significantly higher in patients with OSAS comparedto the healthy subjects. However, further investigationsare required, particularly in the area of biochemical markersof mild cerebral damage in patients with OSAS. J ClinExp Invest 2012; 3 (3): 345-349Key words: Obstructive sleep apnea syndrome, serumS100B, brain, polysomnography

Objectives: We aimed to investigate whether there wereany relations between prolactin levels, prolactin associatedplatelet activation and ischemic stroke, and whetherthey had role in etiology of ischemic stroke.Materials and methods: Totally 57 patients with thediagnosis of acute ischemic stroke and 43 age and sexmatched controls with no history of ischemic vascular diseaseswere included in the study. Prolactin levels, meanplatelet volume (MPV) a marker of platelet activation, andplatelet count, of the patients, after 12 hours of fasting,compared with the measurements of control group.Results: Patients had significantly higher prolactin levels.A correlation between prolactin levels and early measurementsof MPV was not detected. While there was no differencein terms of MPV, the platelet count was significantlyhigher in the patient group.Conclusions: In the present study, the existence of aneffect of prolactin on the mean platelet volume, or a relationshipbetween early ischemic stroke and MPV couldnot be shown. However, in ischemic stroke patients, inearly phase, presence of higher levels of prolactin andplatelet count may be meaningful in etiology of ischemicevents. Besides, presence of higher prolactin levels inearly phase of ischemic stroke may lead to consider thepotential role of prolactin elevation in ischemic strokepathogenesis. J Clin Exp Invest 2012; 3(1): 1-6

WOS: 000373736400014, PubMed ID: 25936385, Objective: To determine the frequency and severity as well as the diagnosis and treatment of overactive bladder problems in patients with multiple sclerosis (MS) followed up at five centers in Turkey. Design: Survey study. Setting: Outpatient tertiary clinics of physical medicine and rehabilitation and neurology. Participants: Consecutive MS patients scheduled for outpatient follow-up (n=309). Intervention: MS patients were asked to complete a questionnaire regarding the frequency and severity, as well as the diagnosis and treatment of their overactive bladder problems. Results: The mean age +/- SD was 39.3 +/- 10.6 years. Urinary urgency was the most common urinary symptom (62%), followed by frequency (50.4%), urge incontinence (44.7%) and nocturia (33%). Residual urine volume was measured using a portable ultrasound instrument in 13.3% of the patients and by catheterization in 16.2% of them. Urodynamic investigations and urinary tract ultrasound were performed on 26.5% and 35.3% of the patients, respectively. Anticholinergic medications were prescribed for 27.5% of the patients. Intermittent catheterization and indwelling catheterization were used on 8.1% and 1.9% of the patients, respectively. The overactive bladder symptom score (OABSS) was significantly higher in patients who had had residual urine measurement (P

Objective: Guillain–Barre syndrome (GBS) is an immune-mediated disorder of peripheral nerves resulting as acute inflammatory demyelinating polyradiculoneuropathy. GBS has a heterogeneous clinical course and laboratory findings. Acute onset and progressive course, and is usually associated with a good prognosis but some forms have a poor prognosis. Factors that can affect the prognosis of GBS have been investigated in several studies. Assessment of poor prognostic factors of GBS plays a vital role in the management and monitorization of patients. Methods: In this retrospective study of patients admitted to the acute phase of GBS removing clinical and laboratory profiles and was planned to investigate the prognostic factors. Results: Totally 23 patients (Female/male: 16/7) were recruited. Mean age was 47 (range: 17-70) years. Statistically significant poor prognostic factors were advanced age (p=0.042), erythrocyte sedimentation rate (p=0.027) and serum albumin level (p=0.007). Conclusion: Advanced age, increased ESR and decreased albumin levels were found as poor prognostic factors in GBS., Amaç: Guillain-Barre Sendromu (GBS), oldukça yaygın görülen otoimmün kökenli, periferik sinirleri etkileyen akut inflamatuar demiyelinizan bir poliradikülopatidir. Oldukça heterojen klinik ve laboratuvar bulgularıyla karşımıza çıkabilir. Ani başlangıçlı, progresif seyirli ve çoğunlukla iyi prognozludur. Ancak bazı formları kötü seyirlidir. GBS\'nin prognozunu etkileyebilen faktörler çeşitli çalışmalarla araştırılmaktadır. Prognostik faktörlerin bilinmesi hastaların tedavi ve izlem planlarında önemli rol oynayabilir. Yöntemler: Bu retrospektif çalışmada akut dönem GBS olarak izlenen hastaların klinik ve laboratuvar profillerinin çıkarılması ve prognostik faktörlerin araştırılması planlandı. Bulgular: Çalışmaya GBS tanısı almış 7 erkek, 16 kadın (toplam 23 hasta) dahil edildi. Yaş ortalamaları 47 yıl (17- 70 arası) idi. İleri yaş (p=0,042), ileri parezi varlığı (p=0,030), sedimantasyon (ESR) (p=0,027) ve serum albümin (p=0,007) düzeyleri prognostik faktörler olarak bulundu. Sonuç: İleri yaş, artmış sedimentasyon hızı, ve azalmış albümin düzeyleri hastalık prognozu üzerine olumsuz etkili olarak bulundu.

An 82-year-old, right-handed male patient was admitted to the emergency room because of continuous rhythmic clonic movements of the right forearm and hand. He was diagnosed with epilepsia partialis continua (EPC) and treated successfully with levetiracetam. In conclusion, we recommend levetiracetam as the first line treatment for EPC, which is mostly refractory to classical antiepileptic drugs.

Objective: Migraine headache affects daily activities, causes important loss of functions in working and social life. In this study, we have analysed the factors influencing disability rates of the patients diagnosed with migraine in Develi region. Material and Methods: 101 migraine patients between the ages of 16 and 48 who have applied to our neurology polyclinic with complaints of headache have been included in the study. We have recorded the demographic and clinical features of the patients along with Visual Pain Scale (VPS) and “Migraine Disability Assessment Scale” (MIDAS) scores and migraine types. The relationship between patients' demographic and clinical features and disability scores, which were determined by using MIDAS, was assessed statistically. Results: The mean age of the patients in the study was 31,8±8,7. %75,2 of our patients were housewives and %59,4 were primary school graduates. MIDAS scores of the illiterate group were significantly higher than high school graduates (p=0,033). The average VPS score was 9,1±0,7. It was also observed that the patients with higher scores applied to emergency services more frequently (p, Amaç: Migren baş ağrısı günlük aktiviteleri etkilemekte, iş ve sosyal yaşamda önemli fonksiyon kayıplarına yol açabilmektedir. Biz bu çalışmada Develi yöresindeki migren tanısı alan hastaların özürlülük oranları üzerine etkili olan faktörleri inceledik. Gereç ve Yöntemler: Çalışmaya nöroloji polikliniğine baş ağrısı nedeni ile başvuran 16-48 yaş aralığındaki 101 migren hastası alındı. Migren tipleri belirlenen hastaların demografik, klinik özellikleri, Vizüel Analog Skala (VAS) ve “Migraine Disability Assesment Scale” (MIDAS) sonuçları kaydedildi. Demografik ve klinik özelliklerle MIDAS ile tespit edilen özürlülük skoru arasındaki ilişki istatistiksel olarak değerlendirildi. Sonuçlar Kruskal Wallis, Fisher kesin test, Spearmankorelasyon ve Mann-Whitney U Testi kullanılarak MIDAS skoru ile kıyaslandı. Bulgular: Çalışmaya alınan hastaların yaş ortalaması 31,8±8,7 idi. Hastalarımızın %75,2'si ev hanımı, %59,4'ü ilkokul mezunuydu. MIDAS skoru ile eğitim düzeyleri korele edildiğinde; okur-yazar olmayan grupta lise mezunlarına göre puanlar istatiksel olarak anlamlı derecede yüksekti (p=0,033). VAS skoru ortalaması (9,1±0,7) yüksek olanların daha sık acile başvurduğu bulundu (p

By comparing neurocognitive test results from patients with obstructive sleep apnea syndrome (OSAS) and those from patients with simple snoring, we aimed to establish whether OSAS negatively influences cognition. Patients with mild-to-severe OSAS (n = 29) and nonhypoxic simple-snoring patients (n = 30) were admitted to the study. All participants in both groups were evaluated with polysomnography and neurocognitive tests, including the Stroop Test, Rey Auditory Verbal Learning Test, Judgment of Line Orientation, Trail-Making Test, and Symbol Digit Modalities Test (SDMT). Significant differences were identified between the groups for test scores on the Rey 1, SDMT, and Stroop tests. We propose that accurate OSAS diagnosis and treatment might help to prevent cognitive decline.

An increasing number of requests for electrodiagnostic (EDX) tests is noted. Unnecessary referrals burden electrodiagnostic laboratories, prolonging waiting time for patients needing this examination. There are only a few studies investigating the distribution and concordance of EMG requests. This study is aimed to evaluate the requests of EDX tests and the concordance of referral diagnosis with EDX diagnosis. Electromyography laboratory database of our clinic between January 2008- December 2010 was used in this study. Data on examinees, referral physicians and diagnoses, electrodiagnostic findings were recorded. Entirely 2843 EDX tests had been performed and 142 of them had been excluded from the study because of missing data. Totally 2701 tests were included into the study and 1095 (40.5%) of whom were men. Mean age of patients was 48.3 ±12.6 years. Most of the EMG requests were done by neurologists (75.3%) and neurosurgeons (13.0%). Very few of EMGs were requested by general practitioners (0.7%).Polyneuropathy (29.2%), carpal tunnel syndrome (27.2%) and radiculopathy (10.2%) were the most common referral diagnoses. EMG results of 37.9% patients were in normal range. The referral diagnosis was concordant with EMG diagnosis in 52.6% of patients. This is the first study that demonstrates the distribution and concordance of EMG requests in Turkey. Most of EMGs were requested by specialists in our study. Polyneuropathy, CTS and radiculopathy were the most frequent diagnoses. Even though around 80% of EMG\'s were requested from neurology and/or neurosurgery clinics, half of diagnoses were concordant with EDX diagnoses., Elektrodiagnostik testler artan sayıda istenmektedir. Gerekli olmayan istemler elektrodiagnostik laboratuvarlarında yoğunluğa neden olmakta, hastaların uzun sure beklemesine yol açmaktadır. EMG istemleri ve dağılımlarını araştıran sınırlı sayıda çalışma bulunmaktadır. Bu çalışmada EDX test istemleri ve klinik öntanıların EDX tanıları ile uyumlarının araştırılması amaçlanmıştır. Bu çalışmada Elektromiyografi laboratuvarının Ocak 2008- Aralık 2010 arasındaki veritabanı kullanıldı. Fizik muayene, sevk eden hekimler ve ön tanıları ile elektrodiagnostik bulgular kaydedildi. Toplam 2843 test değerlendirildi, eksik verisi olan 142 hasta çalışma dışı bırakıldı. Çalışmaya 2701 test sonucu dahil edildi. Hastaların 1095’i (%40.5) erkek ve ortalama yaşları 48.3±12.6 yıldı. EMG istemlerini çoğu nörologlar (%75.3) ve beyin cerrahları (%13.0) tarafından yapılmıştı. Çok az kısmı (%0.7) pratisyenlerce istenmişti. Polinöropati (%29.2), Karpal tünel sendromu (%27.2) ve radikülopati (%10.2) en sık ön tanılardı. Yüzde 37.9 EMG normal sınırlarda bulundu. Hastaların %52.6’sında klinik ön tanı EDX tanısı ile uyumlu bulundu. Bu çalışma EMG istem dağılımlarını ve konkordansını gösteren Türkiye’deki ilk çalışmadır. EMG’lerin çoğun uzman doktorlarca istenmiştir. Polinöropati, KTS ve radikülopati en sık ön tanılardır. Yüzde 80 istemin nörolog ve beyin cerrahlarınca yapılmasına rağmen ön tanıların yarısı EDX tanısı ile uyumludur

Giriş: Joubert Sendromu otozomal resesif geçiş gösteren, hipotoni, ataksi, epizodik hiperpne nöbetleriyle seyreden bir hastalıktır. Temel radyolojik bulgular; vermisin tam veya parsiyel yokluğu, hipoplastik serebeller pediküller ve buna bağlı 4. ventrikül deformitesidir. Manyetik rezonans (MRI) görüntülerde ‘molar diş’ görünümüne neden olur. Olgu Sunumu: Altmış dokuz yaşındaki erkek hasta acil servisimize akut sol hemiparazi kliniği ile başvurdu. Çekilen konvensiyonel kranial MRI’da serebellar hemisferler ve vermis hipoplazikti. Ayrıca pons seviyesinde diffüzyon kısıtlanması gösteren akut iskemik lezyon dikkati çekti. MRI’daki molar diş görüntüsü Joubert Sendromu (JS) seyrinde olabileceğinden tanıya yönelik tetkikler yapıldı. Hasta elde edilen bulgularla asemptomatik JS ve yeni tanı pons enfarktı olarak değerlendirildi. Sonuç: Bu olgu sunumunda acil kliniğine akut inme kliniği ile başvuran takiplerinde Asemptomatik Joubert Sendromu tanısı alan hastanın göz ve MRI bulguları ile birlikte sunduk., Introduction: Joubert syndrome is an autosomal recessive disease that is characterized by hypotonia, ataxia, and hyperpnea episodes. A hypoplastic cerebellar pedicle and complete or partial absence of the vermis are basic radiological findings and the cause of fourth ventricle deformity. These findings cause ‘molar tooth signs’ on magnetic resonance (MRI).Case Report: A 69-year-old male patient who had acute left hemiparesis was admitted to the emergency department. Conventional MRI revealed hypoplasia of the cerebellar pedicle and vermis. In addition, an acute ischemic lesion that was determined by the limitation of diffusion at the level of the pons was noticed. Molar tooth sign in the MRI might be in the course of Joubert syndrome (JS). Due to this finding, other diagnostic tests were performed for the diagnosis of JS. İn conclusion, the patient was diagnosed as asymptomatic Joubert syndrome and newly diagnosed pons infarction..Conclusion: In this case report, we present an asymptomatic Joubert syndrome patient with MRI and ophthalmic findings who was admitted to the emergency department with acute stroke

research Aim: Inflammation plays an important role in acute ischemic stroke. In this study we aimed to investigate the relationship between acute ischemic stroke and serum amyloid A, fetuin-A, and pentraxin-3 which are inflammation markers. Materials and methods: We enrolled 52 patients with acute ischemic stroke and 30 sex-matched control subjects in the study. The patients were followed for 3 months. We evaluated the common risk factors, laboratory variables, and neurological examination of stroke patients according to prognosis scales. Results: The median serum amyloid A, fetuin-A, and pentraxin-3 levels in the stroke patients were higher than in control subjects (respectively, P = 0.000, P = 0.002, and P = 0.037). National Institutes of Health Stroke Scale scores, glucose, C-reactive protein, fibrinogen, and white blood cell count showed differences within the group in terms of the serum amyloid A tertiles statistically. Conclusion: Pentraxin-3, fetuin-A, and serum amyloid A all arise together as novel prognostic factors in a group of patients with ischemic stroke. Relationships between higher levels of inflammation markers, especially serum amyloid A, and the severity of acute ischemic stroke were shown. Aim: Inflammation plays an important role in acute ischemic stroke. In this study we aimed to investigate the relationship between acute ischemic stroke and serum amyloid A, fetuin-A, and pentraxin-3 which are inflammation markers. Materials and methods: We enrolled 52 patients with acute ischemic stroke and 30 sex-matched control subjects in the study. The patients were followed for 3 months. We evaluated the common risk factors, laboratory variables, and neurological examination of stroke patients according to prognosis scales. Results: The median serum amyloid A, fetuin-A, and pentraxin-3 levels in the stroke patients were higher than in control subjects (respectively, P = 0.000, P = 0.002, and P = 0.037). National Institutes of Health Stroke Scale scores, glucose, C-reactive protein, fibrinogen, and white blood cell count showed differences within the group in terms of the serum amyloid A tertiles statistically. Conclusion: Pentraxin-3, fetuin-A, and serum amyloid A all arise together as novel prognostic factors in a group of patients with ischemic stroke. Relationships between higher levels of inflammation markers, especially serum amyloid A, and the severity of acute ischemic stroke were shown.

Celiac disease (CD) is a multiorgan involved systemic disease that most commonly affects the gut but also affects other organs. Up to 10% of patients with CD and gastrointestinal symptoms have otherwise unexplained neurological presentations. In this paper we report a case with the final diagnosis of celiac disease while being investigated for the underlying etiology of iron deficient anemia, peripheral neuropathy, and gait and speech disturbances. J Clin Exp Invest 2010; 1(3): 211-213

Brucellosis has been known for many years and distributed worldwide [1]. Human brucellosis is produced by Brucella melitensis and Brucella abortus. The nervous system is involved in up to 13% of brucellosis cases. Some patients present with a neurologic disorder but no systemic signs or symptoms [2]. Neurologic symptoms may obscure other manifestations, with syndromes of meningitis, encephalitis, myelitis, radiculitis or other disorders [3]. Intracerebral and epidural abscesses have also rarely been reported [4]. Cranial nerve involvement, such as second, seventh and eighth, is described [5].

Aim. This study compares the effectiveness of Michigan Neuropathy Screening Instrument (MNSI), neurothesiometer, and electromyography (EMG) in detecting diabetic peripheral neuropathy in patients with diabetes type 2.Materials and Methods. 106 patients with diabetes type 2 treated at the outpatient clinic of Ankara Numune Education and Research Hospital Department of Endocrinology between September 2008 and May 2009 were included in this study. Patients were evaluated by glycemic regulation tests, MNSI (questionnaire and physical examination), EMG (for detecting sensorial and motor defects in right median, ulnar, posterior tibial, and bilateral sural nerves), and neurothesiometer (for detecting alterations in cold and warm sensations as well as vibratory sensations).Results. According to the MNSI score, there was diabetic peripheral neuropathy in 34 (32.1%) patients (score ≥2.5). However, when the patients were evaluated by EMG and neurothesiometer, neurological impairments were detected in 49 (46.2%) and 79 (74.5%) patients, respectively.Conclusion. According to our findings, questionnaires and physical examination often present lower diabetic peripheral neuropathy prevalence. Hence, we recommend that in the evaluation of diabetic patients neurological tests should be used for more accurate results and thus early treatment options to prevent neuropathic complications.

The aim of this study was to evaluate mean platelet volume (MPV), thrombopoietin (TPO), and platelet levels in patients with ischemic stroke and compare this with healthy controls.We prospectively studied 50 patients with ischemic stroke and compared them with 37 control participants who have evaluated in internal medicine polyclinic and had no history of cerebrovascular events. All patients were within 24 hours after stroke; MPV and TPO were measured on admission.Both TPO and MPV values were significantly higher in patients with stroke (P = .00; P = .001).Increased TPO levels may increase both platelet count and platelet size, resulting in more hemostatic tendency, which may contribute to the progression of ischemic stroke.

We aimed to investigate possible associations between systemic iron metabolism deficiency and Parkinson’s disease, and also to research any possible correlations between stage of the disease and vitamin B12 and folic acid levels. 33 male and 27 female patients diagnosed with idiopathic Parkinson’s disease and 22 male and 20 female age- and sex-matched controls were enrolled in the study. Having the diagnosis of secondary Parkinsonism or Parkinson plus syndromes, and for the females, not being in the menopausal stage were considered as exclusion criteria. Recordings of blood samples of both groups collected after 8 h fasts were assessed in terms of serum iron, ferritin levels and iron-binding capacity, vitamin B12 and folic acid levels. The Hoehn and Yahr scale was used to determine the stage of the disease. No statistically significant difference was found with respect to mean serum iron, median serum ferritin levels and median serum iron-binding capacity between the groups. A statistically significant but inverse correlation was found between symptoms’ duration and serum iron and ferritin levels. There was no statistically significant difference between the groups with respect to vitamin B12 and folic acid levels. However, a statistically significant but inverse correlation was determined between the patients’ vitamin B12 levels and the Hoehn and Yahr scores. As Parkinson’s disease progresses, serum iron, ferritin and vitamin B12 levels may decrease. The lower levels of these parameters may be the cause of the progression or may be the result of it.

Serotonin-selective re-uptake inhibitors are prescribed widely because they are regarded as having less severe side-effects compared with tricyclics and monoamine oxidase inhibitors. With this popularity, increasing attention has been drawn to their adverse effects. Development of extrapyramidal symptoms has been reported in some patients while taking fluoxetine, a commonly used serotonin-selective re-uptake inhibitor. Here, we report a case of persistent dystonia, thought to be associated with short-term fluoxetine use, which required treatment with botulinum toxin type A.

Insan prion hastaliklari, norodejeneratif hastaliklar arasinda etyoloji ve patogenezi iyi anlasilamamis bir gruptur. Prion proteini, normalde santral sinir sisteminde, ozellikle noronlarda ve daha az oranda olmak uzere diger dokularda bulunur, bakir baglayici glikoprotein yapisina sahiptir. Prion hastaliklarinda, hucresel prion proteininin (PrPc) posttranslasyonel modifikasyonu sonucu ortaya cikan PrpSc denilen patolojik bir izoform, beyinde ozellikle noropilde birikir. Biriken bu patolojik izoformun hastaliga yol actigi dusunulmektedir, ancak mekanizmasi tam olarak bilinmemekle birlikte cesitli mutasyonlarla, bulasici etkenlerle ya da kendiliginden PrpSc formuna donusebilir (1). Bulasici sungerimsi ensefelopatiler (BSE) adi altinda incelenen bu hastaliklar sporadik fetal insomnia, fatal familial insomnia, Gerstmann-Straussler-Scheinker hastaligi, Kuru ve Creutzfeldt-Jakob Hastaligi (CJH)’dir (2).