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Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.
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Ataxia Cerebelosa/genética , Predisposición Genética a la Enfermedad/genética , Trastornos del Neurodesarrollo/genética , Transporte de Proteínas/genética , Proteínas de Transporte Vesicular/genética , Adolescente , Adulto , Animales , Niño , Preescolar , Femenino , Variación Genética , Humanos , Masculino , Linaje , Adulto Joven , Pez CebraRESUMEN
PURPOSE: Results from studies on the relationship between restless legs syndrome (RLS) and coronary artery disease (CAD) are conflicting. Some studies associate RLS with CAD by heart rate variability, blood pressure variability, and other autonomic, neuronal reasons, while other studies do not support these observations. The aim of this study was to investigate the prevalence of RLS in patients undergoing coronary angiography for CAD and to assess RLS prevalence with severity of CAD. METHODS: After inclusion and exclusion criteria were applied, enrolled patients with less than 50% coronary artery stenosis by angiography (0-49%) were assigned to group 1, and patients with 50% or more coronary artery stenosis were assigned to group 2. Patients were diagnosed with RLS if they met all five essential criteria of the International RLS study group. RLS prevalence and other comorbidities were compared between the two groups. RESULTS: Of 126 patients, 74 men (59%), mean age 64.0 ± 8.7 years, mean BMI 29.6 kg/m2, 47 (37%) were assigned to group 1 (no or nonobstructive CAD) and 79 (63%) were assigned to group 2 (obstructive CAD). No significant differences were found between the groups in terms of mean age, BMI, gender, or prevalence of hypertension, hypercholesterolemia, and DM. The prevalence of RLS in group 2 (29%) was significantly higher than in group 1 (15%), p = 0.013. CONCLUSION: These results suggest that prevalence of RLS is associated with CAD and with CAD severity. We conjecture that RLS may be related to vascular endothelial dysfunction in cardiovascular disease.
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Angiografía Coronaria/estadística & datos numéricos , Estenosis Coronaria/diagnóstico por imagen , Estenosis Coronaria/epidemiología , Síndrome de las Piernas Inquietas/epidemiología , Anciano , Comorbilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Índice de Severidad de la EnfermedadRESUMEN
BACKGROUND: Montelukast is an antiinflammatory drug with an antioxidant property. In this study, we aimed to reveal whether montelukast has a preventive effect against seizures and post-seizure oxidative stress in pentylenetetrazol (PTZ)-induced seizures in rats. MATERIAL AND METHODS: Of the 48 male Sprague-Dawley rats used in the study, 24 were assigned to EEG recordings (group A) and 24 were assigned to behavioral studies (group B). In group A, the electrodes were implanted on dura over the left frontal cortex for EEG recording. After 10 days, in group A, i.p. saline, 25, 50, or 100 mg/kg montelukast+35 mg/kg PTZ was administered to the rats. EEG was recorded and spike percentage was evaluated. In group B, i.p. saline, 25, 50, or 100 mg/kg montelukast+70 mg/kg PTZ was administered to the rats. Racine's Convulsion Scale (RCS) and onset times of first myoclonic jerk (FMJ) was used to evaluate the seizures. Malondialdehyde (MDA) and superoxide dismutase (SOD) levels were determined in the brain tissue of animals. RESULTS: Animals treated with 50 or 100 mg/kg montelukast had significantly lower RCS and significantly increased FMJ onset time compared to the saline-treated animals. Moreover, groups given 25, 50, or 100 mg/kg montelukast had significantly lower MDA and higher SOD levels compared to the saline-treated group. The differences were more pronounced in the 100 mg/kg montelukast-pretreated group (p<0.001). CONCLUSIONS: Montelukast showed anticonvulsant action and led to amelioration of oxidative stress markers in PTZ-induced seizures in rats.
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Acetatos/uso terapéutico , Quinolinas/uso terapéutico , Convulsiones/inducido químicamente , Convulsiones/tratamiento farmacológico , Acetatos/farmacología , Potenciales de Acción/efectos de los fármacos , Animales , Encéfalo/enzimología , Encéfalo/patología , Ciclopropanos , Electroencefalografía , Masculino , Malondialdehído/metabolismo , Pentilenotetrazol , Quinolinas/farmacología , Ratas Sprague-Dawley , Convulsiones/fisiopatología , Sulfuros , Superóxido Dismutasa/metabolismo , Factores de TiempoRESUMEN
The association between inflammation and the induction of seizures is well-known. It has been reported that non-alcoholic fatty liver disease (NAFLD) is associated with a pro-inflammatory state, and systemic inflammation may trigger central nervous system inflammation. This study aims to identify the impact of inflammation in a rat model of fatty liver on the propensity and severity of pentylenetetrazol (PTZ)-induced seizures. Twenty-four male Sprague-Dawley rats were divided into four groups. Groups 1 and 2 were administered a 35 % fructose solution over 8 weeks to induce the development of fatty liver while Groups 3 and 4 were fed normally as controls. Groups 1 and 3 were given 70 mg/kg PTZ, determining Racine Convulsion Scores (RCS) and onset times of the first myoclonic jerks (FMJ). Groups 2 and 4 were administered 35 mg/kg of PTZ, then EEG recordings were obtained to evaluate spike percentages. TNF-α levels in brain and liver tissues were also measured. While RCS's of fatty liver rats were higher than the control group (p > 0.05) as well as spike percentages (p < 0.05), FMJ onset time was significantly shorter. TNF-α levels in liver and brain tissues of the rats with NAFLD were significantly higher than the control rats. We found that rats with NAFLD demonstrated decreased seizure thresholds, possibly due to increased cytokine levels systemically and within the central nervous system. As such, epilepsy patients taking medications that may predispose the development of NAFLD must be carefully managed to prevent the possibility of increased seizure episodes.
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Encéfalo/metabolismo , Hígado Graso/complicaciones , Inflamación/etiología , Hígado/metabolismo , Convulsiones/complicaciones , Convulsiones/metabolismo , Animales , Convulsivantes/toxicidad , Susceptibilidad a Enfermedades , Electroencefalografía , Hígado Graso/inducido químicamente , Hígado Graso/patología , Fructosa/efectos adversos , Inflamación/metabolismo , Inflamación/patología , Masculino , Mioclonía/etiología , Mioclonía/metabolismo , Pentilenotetrazol/toxicidad , Ratas , Ratas Sprague-Dawley , Convulsiones/inducido químicamente , Factor de Necrosis Tumoral alfa/metabolismoRESUMEN
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which progression cannot be prevented. In this study, we evaluated 37 patients diagnosed with sporadic definitive-probable ALS who were monitored in our neurology clinic between 2002 and 2012 in terms of age, gender, profession, onset, and clinical course within the disease process. The hospital ethics committee approved the study. Nineteen female and 18 male patients diagnosed with sporadic definitive or probable ALS were evaluated for age, gender, level of education, residence, onset of disease, the time between the first symptom and diagnosis, and average lifetime after diagnosis. Twenty-eight of the patients had graduated from primary-secondary school, six were illiterate, and three of them were college graduates. Eighteen patients were living in city center, 19 were living in the country. Fourteen patients were farmers, 11 were housewives, and the remaining was working in various different occupations. The age of onset was 62.13. The men and women were diagnosed 10.27 months and 17.91 months after the first symptom, respectively (p = 0.001). The average survival time after diagnosis was 36.70 months for males and 49.80 months for females (p < 0.05). This difference was particularly evident among patients from rural areas. In addition, our female patients required interventions such as ventilation at a later period than did males. In conclusion, female gender seems to be one of the good prognostic factors for our ALS patients. This may be due to the protection by hormonal mechanisms in women or differences in their responses to exogenous toxins.
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Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/epidemiología , Esclerosis Amiotrófica Lateral/terapia , Demografía , Edad de Inicio , Anciano , Esclerosis Amiotrófica Lateral/mortalidad , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Factores Sexuales , Análisis de Supervivencia , Turquía/epidemiologíaRESUMEN
Objective: Carpal tunnel syndrome (CTS) is the most common type of entrapment neuropathy caused by compression of the median nerve in the carpal tunnel. Epilepsy is characterised by recurrent seizures caused by abnormal neuronal discharges in the brain.This study aimed to investigate whether there is a link between epilepsy and carpal tunnel and, if so, the underlying factors. Materials and methods: Two hundred patients with epilepsy were included in this study. The patients' history of epilepsy, seizure type, and seizure frequency were assessed. The Tinel, Phalen, and Flick physical examination tests were performed on patients with complaints that matched those of median nerve neuropathy. Patients with epilepsy and clinically diagnosed carpal tunnel syndrome completed the Boston Carpal Tunnel Syndrome Questionnaire, and nerve conduction studies were performed. The relationship between seizure type and frequency in patients with carpal tunnel syndrome was compared. Results: Compared to focal-aware motor-onset seizures, the risk of detecting carpal tunnel syndrome was 88.7 times higher in focal-onset bilateral tonic-clonic seizures. Patients with a seizure frequency of one per month or more had a 0.704 times lower risk of CTS than those with a frequency of one per week or more (p = 0.026). Discussion: Patients with epilepsy, especially those experiencing frequent seizures or specific seizure types, may be more susceptible to repetitive wrist flexion-extension postures. Therefore, during clinical follow-up, it is important to inquire about the presence of carpal tunnel syndrome in patients with epilepsy.
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Background: Optic neuritis, myelitis, and neuromyelitis optica spectrum disorder (NMOSD) have been associated with antibodies against myelin oligodendrocyte glycoprotein-immunoglobulin G (anti-MOG-IgG). Furthermore, patients with radiological and demographic features atypical for multiple sclerosis (MS) with optic neuritis and myelitis also demonstrate antibodies against aquaporin-4 and anti-MOG-IgG. However, data on the diagnosis, treatment, follow-up, and prognosis in patients with anti-MOG-IgG are limited. Aims: To evaluate the clinical, radiological, and demographic characteristics of patients with anti-MOG-IgG. Study Design: Multicenter, retrospective, observational study. Methods: Patients with blood samples demonstrating anti-MOG-IgG that had been evaluated at the Neuroimmunology laboratory at Ondokuz Mayis University's Faculty of Medicine were included in the study. Results: Of the 104 patients with anti-MOG-IgG, 56.7% were women and 43.3% were men. Approximately 2.4% of the patients were diagnosed with MS, 15.8% with acute disseminated encephalomyelitis (ADEM), 39.4% with NMOSD, 31.3% with isolated optic neuritis, and 11.1% with isolated myelitis. Approximately 53.1% of patients with spinal involvement at clinical onset demonstrated a clinical course of NMOSD. Thereafter, 8.8% of these patients demonstrated a clinical course similar to MS and ADEM, and 28.1% demonstrated a clinical course of isolated myelitis. The response to acute attack treatment was lower and the disability was higher in patients aged > 40 years than patients aged < 40 years at clinical onset. Oligoclonal band was detected in 15.5% of the patients. Conclusion: For patients with NMOSD and without anti-NMO antibodies, the diagnosis is supported by the presence of anti-MOG-IgG. Furthermore, advanced age at clinical onset, Expanded Disability Status Scale (EDSS) score at clinical onset, spinal cord involvement, and number of attacks may be negative prognostic factors in patients with anti-MOG-IgG.
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Glicoproteína Mielina-Oligodendrócito , Humanos , Masculino , Femenino , Glicoproteína Mielina-Oligodendrócito/inmunología , Adulto , Estudios Retrospectivos , Persona de Mediana Edad , Neuritis Óptica/sangre , Neuritis Óptica/inmunología , Neuritis Óptica/diagnóstico por imagen , Neuromielitis Óptica/sangre , Neuromielitis Óptica/inmunología , Neuromielitis Óptica/diagnóstico por imagen , Autoanticuerpos/sangre , Autoanticuerpos/análisis , Anciano , Adolescente , Inmunoglobulina G/sangre , Esclerosis Múltiple/sangre , Esclerosis Múltiple/inmunologíaRESUMEN
BACKGROUND: Erectile dysfunction (ED), defined as the inability to achieve or maintain an erection sufficient for satisfactory sexual performance, is a common condition. The psychological, hormonal, neurogenic and arterial pathologies, medications, chronic diseases have been reported in the etiology of the ED. This paper aims to study sexual dysfunction in the male patients with migraine and Tension type headache (TTH). METHODS: 30 migraine cases (Group M), 31 TTH cases (Group T) and 30 control cases (Group C) were included in the study. Patients were evaluated with medical history, physical examination, body mass index (BMI), Beck Depression Inventory, biochemical analysis and hormone profiles. ED was evaluated via International Index of Erectile Function Scale (IIEF). In statistical analysis, variant analysis, post-hoc tukey test, Pearson correlation test, t-test, and fisher's exact chi-square test were used. RESULTS: The patients' mean age was 34.96+/-1.30, 35.54+/-1.52 and 32.26+/-1.38 for group M,T and C, respectively. There was no significant difference between the groups in terms of testosterone levels. Mean IIEF scores was 19.83+/-2.2, 20.39+/-1.35 and 27.83+/-0.34 in groups M,T,C. When M and T groups were compared with group C, there were significant differences, and there was no statistical difference when T and M groups were compared to each other. Beck Depression Scores were not significantly different in groups M, T and C. CONCLUSION: In this study, it was shown that, migraine and TTH affects the sexual functions negatively in male patients. Chronic diseases may cause sexual disorders in patients because of despair, guilt, and fear of death or pain. Our results suggest that, along with the effect of chronic disease and pain, there must be other complicated factors exist causing the development of SD in patients with migraine and TTH.
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Disfunción Eréctil/complicaciones , Trastornos Migrañosos/complicaciones , Cefalea de Tipo Tensional/complicaciones , Adulto , Humanos , MasculinoRESUMEN
OBJECTIVES: This study aims to evaluate the effects of ocrelizumab (OCZ) on familial Mediterranean fever (FMF) attacks in multiple sclerosis (MS) patients with FMF (MS+FMF patients). PATIENTS AND METHODS: This retrospective observational study included 11 patients (2 males, 9 females; mean age 46.6±9.2; range, 22 to 55 years) with MS+FMF hospitalized between January 2016 and July 2019. Demographic, clinical, and laboratory parameters and patient reported outcomes were analyzed in patients treated with OCZ for 18 months. RESULTS: Combining OCZ with colchicine in MS+FMF patients significantly reduced the frequency of FMF attacks (p=0.003) and the frequency of joint attacks (p=0.002). Consistent with the clinical improvement, the maximum serum C-reactive protein levels were significantly decreased after combination therapy compared to before combination therapy (p=0.003). MS+FMF patients reported that FMF disease activity improved after OCZ therapy (Visual Analog Scale [VAS] 74±9.6 vs. VAS 46.5±8.1 mm, p=0.003). CONCLUSION: Ocrelizumab therapy led to a prominent decrease in the frequency of FMF attacks, alleviated functional impairment, and improved quality of life in MS+FMF patients.
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OBJECTIVES: Crimean-Congo Hemorrhagic Fever (CCHF) is a fatal, tick-borne disease. The classic clinical presentation of CCHF is characterized by sudden onset of high fever, chills, and severe headache. There are no previous reports on the characteristics of headaches caused by CCHF. Therefore, we investigated the relationship between CCHF-induced headache and the clinical course of the disease. METHODS: We included 60 patients with headache diagnosed with CCHF; they were divided into two groups: group 1 included patients with hospital stay <7 days and group 2 included patients with hospital stay >7 days. The control group included 43 viral pneumonia patients with headache. Patients described the characteristics of headaches and also self-rated the severity with a numeric pain scale that classified headache as either mild or severe. RESULTS: In the group with CCHF, 66.7% of the reported headaches met criteria for diagnosis of migraine. This ratio was significantly higher than that in the control group (37.5%). The headache severity scores in group 1 were lower than those in group 2. The hospitalization length was shorter (p=0.004) and the platelet levels were higher in CCHF patients with mild headache compared with CCHF patients with severe headache (p=0.005). CONCLUSION: CCHF patients had more often and severe headaches than the controls. The severity of headache may be associated with the severity of vascular endothelial damage, vasodilatation, and abnormal release of inflammatory cytokines in CCHF similar in migraine. Most CCHF patients experienced migraine-like headaches, suggesting that cerebral vessel involvement might be important in both CCHF and migraine.
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Cefalea/diagnóstico , Fiebre Hemorrágica de Crimea/diagnóstico , Femenino , Cefalea/complicaciones , Virus de la Fiebre Hemorrágica de Crimea-Congo , Fiebre Hemorrágica de Crimea/complicaciones , Humanos , Tiempo de Internación , Masculino , Persona de Mediana Edad , Índice de Severidad de la EnfermedadRESUMEN
Purpose To investigate the frequency of sexual dysfunction (SD) in female multiple sclerosis (MS) patients and to explore its association with the location and number of demyelinating lesions. Material and Methods We evaluated 42 female patients and 41 healthy subjects. All patients underwent neurological examination and 1.5 T brain and full spinal MRI. All subjects completed the female sexual function index (FSFI), Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and Short-Form 36 Quality of Life Scale (SF-36). All participants were also evaluated for serum thyroid stimulating hormone (TSH), T4, estradiol, and total testosterone. Results No statistically significant differences between the MS and control groups were found for age, body mass index (BMI), serum TSH, T4, E2, and total testosterone level. MS patients had a statistically significantly lower FSFI and SF-36 scores and higher BDI and BAI scores compared with healthy subjects. The location and number of demyelinating lesions were not associated with SD. Conclusion In our cohort, this difference in SD appears unrelated to the location and number of demyelinating lesions. These findings highlight the importance of the assessment and treatment of psychiatric comorbidities, such as depression and anxiety, in MS patients reporting SD.
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Encéfalo/diagnóstico por imagen , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/diagnóstico por imagen , Disfunciones Sexuales Fisiológicas/complicaciones , Disfunciones Sexuales Fisiológicas/diagnóstico por imagen , Médula Espinal/diagnóstico por imagen , Adulto , Ansiedad , Estudios de Cohortes , Depresión , Femenino , Hormonas/sangre , Humanos , Incidencia , Imagen por Resonancia Magnética , Esclerosis Múltiple/epidemiología , Esclerosis Múltiple/psicología , Disfunciones Sexuales Fisiológicas/epidemiología , Disfunciones Sexuales Fisiológicas/psicologíaRESUMEN
BACKROUND: Several studies suggest an association between Parkinson's disease (PD) and type 2 diabetes mellitus; these 2 diseases are both known to affect the common molecular pathways. As a synthetic agonist for the glucagon-like peptide 1 receptor, exenatide has been evaluated as a neuroprotective agent in multiple animal models. Rotenone models of PD have great potential for the investigation of PD pathology and motor and nonmotor symptoms, as well as the role of gene-environment interactions in PD causation and pathogenesis. Therefore, in this study, the neurochemical, behavioral and histologic effects of exenatide on a rotenone-induced rat model of PD were examined. MATERIALS AND METHODS: Eighteen adult male rats were randomly divided into the following 3 groups (n = 6): 1 group received stereotaxical infusion of dimethyl sulfoxide (vehicle, group 1) and the others received stereotaxical infusion of rotenone (groups 2 and 3). Apomorphine-induced rotation test was applied to the rats after 10 days. Thereafter, group 2 was administered isotonic saline, whereas group 3 was administered exenatide for 28 days. RESULTS: Malondialdehyde and tumor necrosis factor alpha levels increased in the rats with PD induced by rotenone, whereas malondialdehyde and tumor necrosis factor alpha levels markedly decreased in the rats treated with exenatide. The apomorphine-induced rotation test scores of exenatide-treated rats were determined to be lower compared with the untreated group. Additionally, treatment with exenatide significantly reduced the loss of dopaminergic neurons in striatum. CONCLUSIONS: These results have shown that exenatide has neuroprotective, anti-inflammatory and antioxidant effects in a rotenone-induced rat model of PD.
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Encéfalo/efectos de los fármacos , Fármacos Neuroprotectores/uso terapéutico , Trastornos Parkinsonianos/tratamiento farmacológico , Péptidos/uso terapéutico , Rotenona/farmacología , Ponzoñas/uso terapéutico , Animales , Conducta Animal/efectos de los fármacos , Encéfalo/metabolismo , Encéfalo/patología , Neuronas Dopaminérgicas/efectos de los fármacos , Neuronas Dopaminérgicas/patología , Exenatida , Peroxidación de Lípido/efectos de los fármacos , Masculino , Fármacos Neuroprotectores/administración & dosificación , Trastornos Parkinsonianos/inducido químicamente , Trastornos Parkinsonianos/patología , Péptidos/administración & dosificación , Ratas , Ratas Sprague-Dawley , Factor de Necrosis Tumoral alfa/metabolismo , Ponzoñas/administración & dosificaciónRESUMEN
PURPOSE: The aim of this study was to determine whether there are electrodiagnostic differences between carpal tunnel syndrome (CTS) patients with diabetes mellitus, CTS + hypothyroidism (HT), CTS + fibromyalgia syndrome, CTS + rheumatoid arthritis (RA), and idiopathic CTS cases, by comparing nerve conduction studies. METHODS: This research examined electrophysiologic studies of 47 untreated HT + CTS, 47 diabetes mellitus + CTS, 49 RA + CTS, 52 fibromyalgia syndrome + CTS, 50 idiopathic CTS cases, and a healthy control group of 50 individuals (a total of 293 patients and 433 hands with CTS). RESULTS: There were no significant differences between the groups in terms of sex and age. There was no significant difference between the CTS groups-in terms of numbers-with mild, moderate, and severe CTS. When the CTS groups were compared with the control group, in all CTS groups on both left and right hands, there was a significant prolongation in median motor latency and median sensory latency (in the 3rd finger); also a significant decrease in median sensory velocity in the 3rd finger. In diabetes mellitus, HT, and RA groups, the median motor amplitudes in both hands were significantly decreased compared with the idiopathic group. There was a moderate significant negative correlation between disease duration and median motor amplitudes (of both right and left sides) in RA (right; P = 0.028, r = 0.761, left; P = 0.041, r = 0.694) and HT groups (right; P = 0.035, r = 0.637, left; P = 0.049, r = 0.697). CONCLUSIONS: Electrodiagnostic results showed both demyelinating injury and axonal damage in diabetes mellitus, HT, and RA patients with CTS, in these patients during treatment for CTS. Early treatment planning should include the risk factor diseases.
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Síndrome del Túnel Carpiano/diagnóstico , Nervio Mediano/fisiopatología , Conducción Nerviosa/fisiología , Nervio Cubital/fisiopatología , Artritis Reumatoide/complicaciones , Artritis Reumatoide/fisiopatología , Síndrome del Túnel Carpiano/complicaciones , Síndrome del Túnel Carpiano/fisiopatología , Diabetes Mellitus/fisiopatología , Electrodiagnóstico/métodos , Femenino , Fibromialgia/complicaciones , Fibromialgia/fisiopatología , Humanos , Hipotiroidismo/complicaciones , Hipotiroidismo/fisiopatología , Masculino , Persona de Mediana Edad , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
PURPOSE: In this study, we investigated overactive bladder (OAB) functions in male patients who used antidepressant drugs (ADs) that were previously examined in female patients, based on conflicting data in literature regarding the effects of AD on OAB and the differences between male and female urinary system physiologies (anatomical and hormonal). METHODS: The study included 202 male patients (a control group of 90 healthy subjects, and an experimental group of 112 patients taking ADs for different disorders). All the patients completed the overactive bladder-validated 8 (OAB-V8) questionnaire, the International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF), and the Beck Depression Inventory (BDS). RESULTS: The OAB-V8, ICIQ-SF, and BDS scores for the antidepressant users were significantly higher than those of the control group. The highest prevalence of OAB symptoms was observed in patients taking venlafaxine (68.2%), and the lowest prevalence was in patients taking sertraline (28.0%). Moreover, the frequency of OAB between the antidepressant groups was statistically significant. The univariate logistic regression analyses showed a significant relationship between the presence of OAB, antidepressant usage, BDS score, and the age of a patient. In the multivariate logistic regression analyses, the association between the presence of OAB and antidepressant usage was statistically significant. CONCLUSIONS: The present study showed that the incidence of OAB and the severity of OAB symptoms increased in males using antidepressants for various disorders. This may have been due to unique pharmacological effects, on a molecular or individual level, of serotonin-norepinephrine reuptake inhibitors.
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AIMS: Multiple sclerosis (MS) is an autoimmune, inflammatory disease characterized by loss of myelin forming oligodendrocytes and changes in the blood-brain barrier. Matrix metalloproteinase (MMP) -2 and -9 are known to cause disruption of the blood-brain barrier, remodeling of the basal lamina, regeneration of axons, and remyelination in MS. The imbalance between MMPs and tissue inhibitor metalloproteinases (TIMPs) may lead to the emergence of pathological processes such as MS. The roles of MMP2-1306 C/T and TIMP2-418 G/C genetic variants in MS have not been studied before. We aimed to investigate whether MMP2-1306C/T and TIMP2-418 G/C gene variants are risk factors for patients with relapsing remitting multiple sclerosis (RRMS). METHODS: The study included 102 RRMS and 102 healthy controls. Genomic DNA was extracted from peripheral leukocytes from ethylenediaminetetraacetic acid anticoagulated blood. Genotyping of the MMP2-1306C/T and TIMP2G-418C polymorphisms was performed using real-time PCR. RESULTS: There were significant differences in terms of distribution of genotype (MMP2-1306- CT, TT) and T allele frequency between the patients with RRMS and the control group (p<0.0001; p<0.0001). The groups were not different in terms of TIMP2G-418C polymorphisms. CONCLUSIONS: In the RRMS group, the genotype and allele frequencies of MMP2-1306C/T polymorphism showed significant differences from the controls. These results indicate that MMP2 might play a role in the pathogenesis of MS even during the inflammation stage.
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Predisposición Genética a la Enfermedad , Metaloproteinasa 2 de la Matriz/genética , Esclerosis Múltiple Recurrente-Remitente/enzimología , Esclerosis Múltiple Recurrente-Remitente/genética , Polimorfismo de Nucleótido Simple/genética , Inhibidor Tisular de Metaloproteinasa-2/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Humanos , MasculinoRESUMEN
Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling.
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OBJECTIVES: The relationship between epilepsy and inflammation is known, and it has been reported that there is an increase in cyclooxygenase (COX) levels in epilepsy. We aim to reveal the anticonvulsant effects of dexketoprofen in pentylenetetrazol (PTZ)-induced seizures in rats. MATERIALS AND METHODS: Forty-eight male Sprague-Dawley rats, 24 of them for EEG recording and 24 of them are for behavioral studies, were randomly divided in two groups: Group A for EEG recordings and Group B for behavioral assessment. A weight of 70 mg/kg PTZ was used for behavioral studies after dexketoprofen administration. Thirty-five milligrams per kilogram PTZ were used for EEG recording after dexketoprofen administration. The electrodes were implanted on dura over the left frontal cortex and the reference electrode was implanted over the cerebellum for EEG recording. The Racine convulsion scale (RCS), first myoclonic jerk (FMJ) onset time, and spike percentages were evaluated between the two groups. RESULTS: There was a significant (P< 0·05) difference between the RCS, FMJ onset time (P< 0·001), and spike percentage (P< 0·05) between the groups (Group 2 compared with Groups 3 and 4). CONCLUSION: Dexketoprofen has an antiepileptic feature and this effect increases as the dosage increases, however it is currently unknown through which mechanism this drug shows its anticonvulsant effect. Dexketoprofen, in the group of NSAIDs, shows an anticonvulsant effect on PTZ-induced epilepsy model. This study suggests that dexketoprofen can preferably be used with NSAIDs for epileptic patients in clinical practice.
Asunto(s)
Antiinflamatorios no Esteroideos/uso terapéutico , Cetoprofeno/análogos & derivados , Pentilenotetrazol , Convulsiones/inducido químicamente , Convulsiones/tratamiento farmacológico , Trometamina/uso terapéutico , Animales , Convulsivantes , Modelos Animales de Enfermedad , Electroencefalografía , Cetoprofeno/uso terapéutico , Masculino , Ratas , Ratas Sprague-Dawley , Resultado del TratamientoRESUMEN
OBJECTIVES: Critical illness neuropathy (CIN) is a condition that may occur in diseases with severe systemic response, particularly in sepsis. The aim of this study is to investigate the potential anti-inflammatory and lipid-peroxidation inhibiting activities of lacosamide by measuring tumour necrotizing factor-alpha (TNF-alpha), C-reactive protein (CRP), malondialdehyde (MDA) and white blood cells (WBC) using electroneuromyography (ENMG) in rats with sepsis-induced critical illness neuropathy (SICIN). METHODS: Cecal ligation and puncture (CLP) procedure was performed on 39 rats to induce a sepsis model. The study groups were designed as follows: Group 1: normal (nonoperative); Group 2: (sham-operated); Group 3: CLP (untreated group); Group 4: CLP and lacosamide 20âmg/kg; Group 5: CLP and lacosamide 40âmg/kg. TNF-alpha, C reactive protein, MDA and WBC levels was measured and compound muscle action potential (CMAP) distal latans, amplitudes were measured by using ENMG in rats with SICIN. RESULTS: When untreated sepsis group was compared with both control and sham groups, CMAP amplitudes and latans were significantly lower (P < 000.1). When CLP, CLP+lacosamide 20âmg/kg and CLP+lacosamide 40âmg/kg groups were compared, plasma levels of TNF-alpha and MDA were significantly higher in the untreated CLP group (F = 12.74, P < 0.0001), (F = 19.43, P < 0.05). In the CLP+lacosamide 40âmg/kg group, CRP levels were significantly lower only compared to the CLP group (P < 0.001). DISCUSSION: We have showed that lacosamide may have beneficial effects on early SICIN by its potential anti-inflammatory and lipid peroxidation inhibiting activities; however, further comprehensive studies are required to clarify these effects.