A novel electrochemical immunosensor based on ITO modified by carboxyl-ended silane agent for ultrasensitive detection of MAGE-1 in human serum.

A new, low-cost electrochemical immunosensor was developed for rapid detection of Melanoma-associated antigen 1 (MAGE-1), a cancer biomarker. The fabrication procedure of immunosensor was based on the covalent immobilization of anti-MAGE-1, biorecognition molecule, on ITO electrode by carboxyethylsilanetriol (CTES) monolayer. The biosensing MAGE-1 antigen was monitored by using electrochemical impedance spectroscopy (EIS) and cyclic voltammetry (CV) technique. Apart from these techniques, single frequency impedance (SFI) was used for investigation of antibody-antigen interactions. Scanning electron microscopy (SEM), fourier transform infrared spectroscopy (FTIR), atomic force microscopy (AFM) were utilized for characterization of the proposed biosensor. To fabricate highly sensitive, good stability immunosensor, some parameters were optimized. Under optimal conditions, the developed electrochemical immunosensor for MAGE-1 exhibited a dynamic range of 4 fg/mL and 200 fg/mL with a low detection limit of 1.30 fg/mL. It had acceptable repeatability (5.05%, n = 20) and good storage stability (3.58% loss after 10 weeks). Moreover, this electrochemical immunosensor has been successfully applied to the determination of MAGE-1 in human serum samples.

Predictors of intensive care unit admission and mortality in patients with ischemic stroke: investigating the effects of a pulmonary rehabilitation program.

BACKGROUND: The aim of this study was to investigate the predictors of intensive care unit (ICU) admission and mortality among stroke patients and the effects of a pulmonary rehabilitation program on stroke patients. METHODS: This prospective study enrolled 181 acute ischemic stroke patients aged between 40 and 90 years. Demographical characteristics, laboratory tests, diffusion-weighed magnetic resonance imaging (DWI-MRI) time, nutritional status, vascular risk factors, National Institute of Health Stroke Scale (NIHSS) scores and modified Rankin scale (MRS) scores were recorded for all patients. One-hundred patients participated in the pulmonary rehabilitation program, 81 of whom served as a control group. RESULTS: Statistically, one- and three-month mortality was associated with NIHSS and MRS scores at admission and three months (p<0.001; r=0.440, r=0.432, r=0.339 and r=0.410, respectively). One and three months mortality- ICU admission had a statistically significant relationship with parenteral nutrition (p<0.001; r=0.346, r=0.300, respectively; r=0.294 and r=0.294, respectively). Similarly, there was also a statistically significant relationship between pneumonia onset and one- and three-month mortality- ICU admission (p<0.05; r=0.217, r=0.127, r=0.185 and r=0.185, respectively). A regression analysis showed that parenteral nutrition (odds ratio [OR] =13.434, 95% confidence interval [CI] =1.148-157.265, p=0.038) was a significant predictor of ICU admission. The relationship between pulmonary physiotherapy (PPT) and ICU admission- pneumonia onset at the end of three months was statistically significant (p=0.04 and p=0.043, respectively). CONCLUSION: This study showed that PPT improved the prognosis of ischemic stroke patients. We believe that a pulmonary rehabilitation program, in addition to general stroke rehabilitation programs, can play a critical role in improving survival and functional outcomes. TRIAL REGISTRATION: NCT03195907 . Trial registration date: 21.06.2017 'Retrospectively registered'.

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.

Posterior reversible encephalopathy syndrome as an initial manifestation of systemic lupus erythematosus.

Posterior reversible encephalopathy syndrome (PRES) is a disorder which is diagnosed with its characteristic clinical and radiological findings, typically resolves with treatment. The prevalence of PRES in systemic lupus erythematosus (SLE) patients is not exactly known. A systemic disorder frequently appears as a presenting symptom in SLE. However, in rare cases, the disease starts with a neurological manifestation. Here we report a 35-year-old woman presenting with a headache and blurred vision. She had neurologic symptoms and cerebral lesions on magnetic resonance imaging (MRI) suggesting PRES. The patient was diagnosed with SLE during the etiological investigation of PRES. In this article, we aimed to emphasize that PRES as an initial presentation of SLE.

The effect of cognitive performance on self-management behavior of multiple sclerosis patients.

BACKGROUND: Difficulties of self-management in people with MS (pwMS) is considered as one of the most important factors contributing to low rehabilitation efficacy, more severe long-term complications and increase in healthcare costs. Despite the emergence of research in the last decade documenting causes, types, and course of cognitive difficulties in MS disease subtypes, limited evidence is available in the literature for direct comparison of self-management and cognitive deficits. In this study we aimed to investigate the relationship between cognitive performance and self-management in pwMS. METHODS: PwMS who applied to neurology out-patient clinics of seven different centers were included into study. Multiple Sclerosis Self-Management Scale- Revised (MSSM-R) was used for the assessment of self-management behaviors and Multiple Sclerosis inventory cognition scale (MUSIC) was used for the assessment of cognitive performance and fatigue. RESULTS: In this study, 194 (144 female and 50 male) pwMS participated (mean age = 38.9 years). The course of the disease was RRMS in 173 patients and mean EDSS was 2.0. 68.5% of the participants were married, 32.5% were employed, and 57.2% had secondary education. The MSSM-R mean score of the study group was 42.6 ± 10.4 (1-81). There was a positive correlation between MSSM-R and MUSIC-cog scores (r = 0.21, p = 0.003). A hierarchical multiple regression revealed that income level (ß = 0.196, t = 2.692, p = 0.008) and cognitive performance (ß = 0.167, t = 2.063, p = 0.041) together with control variables (gender, age, educational status, employment status, duration of disease, EDSS and fatigue) explained 5.5% of the variance in self-management. CONCLUSION: Cognitive performance is a predictor of self-management in pwMS. Better self-management behavior is also related with employment and income level in pwMS. Studies evaluating patients' cognitive abilities and evaluating the effectiveness of adapted self-management training programs are needed.

The effect of pelvic floor exercise program on incontinence and sexual dysfunction in multiple sclerosis patients.

PURPOSE: Multiple sclerosis (MS) is a chronic neuroinflammatory disease of the central nervous system that involves different neurological areas. In addition to lower urinary tract symptoms (LUTS), sexual dysfunction (SD), and psychopathological effects, MS sometimes seriously impairs the quality of life (QoL). We hypothesize that the pelvic floor exercise program (PFEP) could improve bladder, sexual function, depression, and QoL in MS patients. METHODS: Patients diagnosed with MS completed the Incontinence Questionnaire Short Form (ICIQ-SF), the Beck Depression Inventory (BDI), the Multiple Sclerosis Quality of Life-54 (MSQoL-54) questionnaire, and either the Female Sexual Function Index (FSFI) or the Sexual Health Inventory for Men (SHIM). Maximum bladder volumes (MBV) and post-voiding residual (PVR) volumes were measured using ultrasonography. The patients who regularly completed the PFEP for 12 weeks were asked to fill out the questionnaires again, and their MBV and PVR were remeasured. RESULTS: Seventy-two patients with relapsing-remitting multiple sclerosis (RRMS) were included in the study. Forty-two (58.3%) RRMS patients reached the end of the study. The patients' post-PFEP average MBV statistically increased (p = 0.01). In contrast, no statistically significant difference was found in the PVR (p = 0.2). After exercise, the FSFI values in women increased (p = 0.02), and ICIQ-SF and BDI values in all the RRMS patients statistically decreased (p = 0.004, p = 0.01, respectively), but there was no improvement in the MSQoL-54 score (p > 0.05). CONCLUSION: PFEP, which causes a reduction in LUTS by enhancing the MBV of RRMS patients, can be seen as an investment in the future in terms of reducing depression in MS patients and preventing or delaying SD in women.

Quantitative phase imaging of erythrocyte in epilepsy patients.

The present study focuses on the quantitative phase imaging of erythrocytes with the aim to compare the morphological differences between epilepsy patients under antiepileptic treatment, who have no other disease which may affect the erythrocyte morphology, and the healthy control group. The white light diffraction phase microscopy (WDPM) has been used to obtain the interferogram of the erythrocyte surfaces. The continuous wavelet transform with Paul wavelet has been chosen to calculate the surface profiles from this interferogram image. For the determination of alteration in morphology, besides WDPM, erythrocyte surfaces have been investigated by light microscope and scanning electron microscope. In this way, it has been possible to see the difference in terms of precision and implementation between the most commonly used methods with regard to the quantitative phase imaging. Erythrocytes from all the samples have been examined and displayed in both two- and three-dimensional way. We have observed that erythrocytes of patients with effective antiepileptic blood levels were more affected in morphology than healthy subjects. When we compared the erythrocyte morphological changes of patients who received monotherapy or polytherapy, no difference was observed. In conclusion, antiepileptic drugs (AEDs) cause red blood cell (RBC) morphological changes and a combined usage of WDPM with Paul wavelet and light microscopy methods are very convenient for studying the erythrocyte morphologies on multiple patients.

Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey.

We report the clinical and electrophysiological features of a large Turkish family with genetically confirmed X-linked spinal and bulbar muscular atrophy (SBMA). Family members were identified by field work. A detailed history was obtained from each subject, and each subject received a detailed neurological examination. To confirm the CAG repeat expansion in the AR gene, genomic DNA was extracted from the peripheral blood of patients. The family consisted of 128 individuals over five generations, with two consanguineous parents, one slightly affected female, and 12 affected males with SBMA. We studied the five surviving male patients and one surviving female carrier. The age at disease onset, phenotypic features, and disease severity varied among the family members. DNA analysis was performed on five individuals, belonging to five generations of the family. Four affected males and a slightly affected female carrier were shown to carry an expanded CAG repeat in the androgen receptor gene. This family report is consistent with previous studies suggesting that SBMA may be present with a wide clinical spectrum in affected family members. Further descriptions of SBMA affected families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease.

Delayed diagnosis of a neuroBehçet patient with only brainstem and cerebellar atrophy: literature review.

We report a 34-year-old male neuroBehçet's Disease (NBD) patient with atypical magnetic resonance imaging (MRI) findings, whose behavioral problems were followed by progressive neurological symptoms. The patient was hospitalized due to forgetfulness, irritability, behavioral dyscontrol and a choking sensation. T2-weighted MRI showed prominent atrophy of cerebellar hemispheres, the cerebellar peduncle, the midbrain and the pons. He was diagnosed with NBD after an evaluation of his medical history together with neuropsychiatric and laboratory findings. There are few reports of NBD with only brainstem and cerebellar atrophy. We discuss our patient in the context of the four previously reported cases. In NBD without evident mucocutaneo-ocular symptoms, neurologists should always consider the medical and family history. Early diagnosis of NBD helps to initiate appropriate treatment, thereby modulating the course of the disease and preventing complications.

Pathological Yawning in Patients with Acute Middle Cerebral Artery Infarction: Prognostic Significance and Association with the Infarct Location

Background: Pathological yawning is a compulsive, frequent, repetitive yawning triggered by a specific reason besides fatigue or boredom. It may be related to iatrogenic, neurologic, psychiatric, gastrointestinal, or metabolic disorders. Moreover, it could also be seen in the course of an ischemic stroke. Aims: To determine whether pathological yawning is a prognostic marker of middle cerebral artery stroke and evaluate its relationship with the infarct location. Study Design: Cross-sectional study. Methods: We examined 161 patients with acute middle cerebral artery stroke, consecutively admitted to emergency department. Demographic information, stroke risk factors, stroke type according to Trial of Org 10172 in Acute Stroke Treatment classification, blood oxygen saturation, body temperature, blood pressure, heart rate, glucose levels, daytime of stroke onset, National Institutes of Health Stroke Scale score (National Institutes of Health Stroke Scale score, at admission and 24 h), modified Rankin scale (at 3 months), and infarct locations were documented. Pathological yawning was defined as ≥3 yawns/15 min. All patients were observed for 6 hours to detect pathological yawning. National Institutes of Health Stroke Scale score >10 was determined as severe stroke. The correlation between the presence of pathological yawning and stroke severity, infarct location, and the short- and long-term outcomes of the patients were evaluated. Results: Sixty-nine (42.9%) patients had pathological yawning and 112 (69.6%) had cortical infarcts. Insular and opercular infarcts were detected in 65 (40.4%) and 54 (33.5%) patients, respectively. Pathological yawning was more frequently observed in patients with cortical, insular, and opercular infarcts (p<0.05). Pathological yawning was related to higher National Institutes of Health Stroke Scale scores. Patients with severe stroke (National Institutes of Health Stroke Scale score ≥10) presented with more pathological yawning than those with mild to moderate strokes (p<0.05). The clinical outcomes and mortality rates showed no significant relationship with the occurrence of pathological yawning. Conclusion: Pathological yawning in middle cerebral artery stroke was associated with stroke severity, presence of cortical involvement, and insular and opercular infarcts. However, no association was found with long-term outcome and mortality.

Possible role of SCN4A skeletal muscle mutation in apnea during seizure.

SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia-causing mutations experience severe life-threatening episodic laryngospasm with apnea. We have recently identified similar SCN4A mutations in association with sudden infant death syndrome. Laryngospasm has also been proposed as a contributory mechanism to some cases of sudden unexpected death in epilepsy (SUDEP). We report an infant with EEG-confirmed seizures and recurrent apneas. Whole-exome sequencing identified a known pathogenic mutation in the SCN4A gene that has been reported in several unrelated families with myotonic disorder. We propose that the SCN4A mutation contributed to the apneas in our case, irrespective of the underlying cause of the epilepsy. We suggest this supports the notion that laryngospasm may contribute to some cases of SUDEP, and implicates a possible shared mechanism between a proportion of sudden infant deaths and sudden unexpected deaths in epilepsy.

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.

Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification.

BACKGROUND AND PURPOSE: The idiopathic basal ganglia calcification (Fahr syndrome) may occur due to senility. Fetuin-A is a negative acute phase reactant which inhibits calcium-phosphorus precipitation and vascular calcification. In this study, we aimed to evaluate whether serum fetuin-A levels correlate with bilateral basal ganglia calcification. METHOD: Forty-five patients who had bilateral basal ganglia calcification on brain CT were selected according to the inclusion and exclusion criteria, and 45 age and gender-matched subjects without basal ganglia calcification were included for the control group. Serum fetuin-A levels were measured from venous blood samples. All participants were divided into two groups; with and without basal ganglia calcification. These groups were divided into subgroups regarding age (18-32 and 33-45 years of age) and gender (male, female). RESULTS: We detected lower levels of serum fetuin-A in patients with basal ganglia calcification compared with the subjects without basal ganglia calcification. In all subgroups (female, male, 18-32 years and 33-45 years), mean fetuin-A levels were significantly lower in patients with basal ganglia calcification (p = 0.017, p = 0.014, p = 0.024, p = 0.026, p = 0.01 respectively). And statistically significantly lower levels of fetuin-A was found to be correlated with the increasing densities of calcification in the calcified basal ganglia group (p-value: <0.001). CONCLUSION: Considering the role of fetuin-A in tissue calcification and inflammation, higher serum fetuin-A levels should be measured in patients with basal ganglia calcification. We believe that the measurement of serum fetuin-A may play a role in the prediction of basal ganglia calcification as a biomarker.

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.

Paroxysmal posterior variant alien hand syndrome associated with parietal lobe infarction: case presentation.

Alien hand syndrome (AHS) is an involuntary and rare neurological disorder emerges at upper extremity. AHS is a disconnection syndrome with the symptoms of losing sense of agency and sense of ownership, and presence of involuntary autonomic motor activity. There are frontal, callosal and posterior types of AHS and each of them occurs depend on the lesions of different of the brain. Posterior variant is a rarely encountered AHS type compared to others. AHS, generally regarded as persistent, but rarely maybe observed as paroxysmal. In this article, we present 71 year old patient with right posterior parietal lobe infarction and developed posterior variant AHS on left arm 1 month after discharge from the hospital. To discriminate AHS from conditions such as extrapyramidal movement disorders and epileptic seizures that take part in differential diagnosis should be kept in mind by the clinicians. Wrong and unnecessary treatments could be prevented in this way.

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82H) and EPM2A (p.V7A) and two recurrent NHLRC1 (p.D146N) and EPM2A (p.R241X) mutations were identified in six families. The delineation of causative mutations in patients provided early disease diagnosis for other family members and contributed to the knowledge of LD pathogenesis.