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Background and purpose:
Body mass index (BMI) is positively correlated with the frequency of carpal tunnel syndrome (CTS). However, there are different types of obesity, and the localization of adipose tissue differs between the genders. In this study, we purposed to investigate whether there was an association between the amount of local adipose tissue thickness and anthropometry in upper extremity with the presence and/or electrophysiological severity of CTS on both genders.
. Methods:Our study included 150 patients who were diagnosed with CTS clinically and electrophysiologically and 165 healthy controls. The biceps and triceps skinfold thickness, the diameters of the wrist and metacarpal joints, and the upper arm circumferences over the belly of the biceps muscle were measured by using skinfold caliper and measuring cylinder. All data were analyzed by using the Statistics Open For All package (SofaStats) programme. To detect the role of anthropometric indexes, we used multivariable multinomial logistic regression models.
. Results:We revealed that BMI, biceps and triceps adipose tissue thicknesses were higher in females and also in patients with CTS. There was a positive correlation between electrophysiological grades of CTS and BMI with logistic regression analyzes. The mean Wrist circumference/Metacarpopharengeal Circumference ratio and biceps circumference were higher in moderate CTS groups. Metacarpofarengeal circumference was smaller in mild and moderate CTS cases compared to healthy ones.
. Conclusion:We suggest that the differences between the anatomical bone structure and local adiposity between the genders may play an important role in the occurrence of CTS. Moreover, the structures of proximal muscle groups and distal metacarpal joints may contribute both to the development and severity of CTS.
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Síndrome do Túnel Carpal , Humanos , Feminino , Masculino , Síndrome do Túnel Carpal/diagnóstico , Antropometria , Punho/anatomia & histologia , Índice de Massa Corporal , Obesidade , Tecido AdiposoRESUMO
The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with ~70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlights DECR1, ATL1, HDAC2, GEMIN4, and HNRNPA3 as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).
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Esclerose Lateral Amiotrófica/genética , Bases de Dados Genéticas , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Internet , Fenótipo , Turquia , Sequenciamento Completo do GenomaRESUMO
Olfactory dysfunction and migraine has been associated for a long time. In this study, we planned to compare olfactory functions in patients with migraine and osmophobia with patients having migraine but no osmophobia, in addition with a normal control group using "Sniffin' Sticks" test. The main distinction of this study is that all qualitative and quantitative properties of olfactory functions; threshold, discrimination and identification, are evaluated separately and jointly. Thirty healthy person aged between 16 and 56 (18 women, 12 men) and 60 migraine patients aged between 15 and 54 (39 women, 21 man) were included in the study. All patients have been inquired about osmophobia and have been assessed with Hedonic tone assessment. Osmophobia has been tested for perfume, cigarette smoke, leather, stale food, soy sauce, fish, spices and coffee smells. Olfactory functions has been assessed with "Sniffin' Sticks" smell test. Thresholds, discrimination and identification have been determined for each patient. In migraine patients with osmophobia, threshold was 7.75 ± 2.3, in migraine patients without osmophobia threshold was 8.25 ± 1.5 and threshold was 10.75 ± 1.3 for the control group. Discrimination score was 6 ± 1.2 in migraine patients with osmophobia, 9 ± 0.8 in patients without osmophobia and was 12 ± 1.4 in the control group. In migraine patient with or without osmophobia Threshold/Discrimination/Identification (TDI) scores were lower than the control group. The most important parameter in our study is that discrimination scores were especially lower in patients with osmophobia. We believe that this decrease in discrimination in migraine patients with osmophobia; who claim that they smell everything and they are sensitive to all smells, is significant. Further studies about smell discrimination will help better understand some conditions; especially anosmia and hyposmia after upper respiratory tract infections and parosmia.
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Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/fisiopatologia , Transtornos do Olfato/complicações , Transtornos Fóbicos/fisiopatologia , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/psicologia , Odorantes , Transtornos do Olfato/fisiopatologia , Transtornos do Olfato/psicologia , Transtornos Fóbicos/etiologia , Limiar Sensorial , Olfato , Adulto JovemRESUMO
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.
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Isquemia Encefálica/epidemiologia , Doença de Fabry/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Adolescente , Adulto , Idade de Início , Isquemia Encefálica/diagnóstico , Análise Mutacional de DNA , Teste em Amostras de Sangue Seco , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Feminino , Predisposição Genética para Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico , Turquia/epidemiologia , Adulto Jovem , alfa-Galactosidase/sangue , alfa-Galactosidase/genéticaRESUMO
BACKGROUND: Several studies have been conducted on the inflammatory aspects of migraine. Pentraxins are a novel and important part of innate immunity as a superfamily of acute phase proteins. In our study, we aimed to demonstrate the relationship between migraine and the serum levels of pentraxin-3 (PTX-3), C-reactive protein (CRP), fibrinogen and D-dimer. METHODS: We recruited 30 migraine patients (in both the attack and interictal period) and 30 healthy controls. Serum samples were obtained from all participants, and a brain MRI performed in the last six months was assessed regarding the presence of deep white matter lesions. Comparisons between the attack, interictal and control groups regarding the serum levels of PTX-3, CRP, fibrinogen and D-dimer were performed. The association between serum PTX-3 levels and migraine characteristics (disease duration, headache frequency, MRI findings, aura, family history, attack duration, and MIDAS score) was also assessed. RESULTS: We found higher serum levels of fibrinogen and PTX-3 in migraine attack patients compared with the interictal and control groups (p = 0.03 and p < 0.001, respectively). Subgroup analysis also showed that patients with a disease duration of more than five years and with an attack duration of more than 12 hours have lower serum levels of PTX-3 than patients who have a relatively new diagnosis and have relatively short-lasting migraine attacks (p = 0.042 and p = 0.038, respectively). CONCLUSIONS: PTX-3 and fibrinogen exhibit different serum levels in patients undergoing a migraine attack compared with the interictal group and the controls. Participants with longer attacks and disease durations have lower serum levels of PTX-3, suggesting that inflammatory processes change along with disease progression.
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Biomarcadores/análise , Proteína C-Reativa/análise , Inflamação/sangue , Transtornos de Enxaqueca/sangue , Transtornos de Enxaqueca/patologia , Componente Amiloide P Sérico/análise , Adulto , Ensaio de Imunoadsorção Enzimática , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Fibrinogênio/análise , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-IdadeRESUMO
The choroid plexus (CP) performs multiple functions such as secretion and reabsorption. CP also acts as the blood-cerebrospinal fluid barrier. Prolidase plays an important role in collagen metabolism by degrading imidodipeptides, in which proline or hydroxyproline residue is located at the C-terminal end. Serum prolidase activity (SPA) may reflect the degree of fibrosis and inflammation. Choroid plexus calcification (CPC) is considered as the physiological calcification of the brain, and CPC is diagnosed by the presence of calcification in the anatomical region on computed tomography (CT). Here, CPC and non-calcified CP were defined by Hounsfield Units (HU) values of > 150 and < 50, respectively. We aimed to measure SPA in subjects with CPC and those with non-calcified CP. This study included 89 subjects who were admitted to the neurology clinic and underwent CT: 44 subjects with CPC and 45 subjects with non-calcified CP. The neurological examination of all subjects was normal; namely, the subjects with CPC were asymptomatic. The SPA level was significantly higher in the CPC group than that in the non-calcified CP group (p < 0.002), and there was a significant positive correlation between vitamin D and SPA levels in the CPC group. In contrast, the vitamin D and parathyroid hormone levels were higher in the CPC group, but the difference was not statically significant (p > 0.05). These findings indicate that SPA is a biomarker for CPC that may be predictive of future brain disease.
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Calcinose , Plexo Corióideo/diagnóstico por imagem , Plexo Corióideo/enzimologia , Dipeptidases/metabolismo , Adolescente , Adulto , Biomarcadores/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Purpose - The purpose of this study is to determine the diagnosis- and treatment-related characteristics in Guillain-Barré syndrome (GBS) and to evaluate the effects of early intravenous immunoglobulin (IVIg) treatment on disability, mortality and prognosis. Materials and methods - Adult patients who were diagnosed with GBS in our clinic between January 2000 and January 2014 were retrospectively scanned. While the patients undergoing IVIg treatment were included in the study, the other neuropathic diseases were excluded. Patients were divided into two groups based on the administration time of the IVIg treatment; Group 1 (<7 days) and Group 2 (≥ 7 days) Group 1 consisted of patients undergoing IVIg treatment within 7 days after presentation of symptoms and Group 2 consisted of patients undergoing IVIg treatment on and after 7th day following presentation of symptoms. The scores from Hughes Functional Grading Scale (HFGS) on admission and one month laterwere recorded in all patients in order to evaluate the disability and prognosis in terms of demographic and clinical laboratory characteristics. Results - In this study, 49 GBS patients were included (31 patients in Group 1 and 18 patients in Group 2). Demyelinating form of GBS was determined in 22 (44.8%) patients.). While there was no difference between both groups (p: 0.288, p: 0.762, p: 0.693 respectively) in terms of intensive care and rehabilitation requirement and progression, only 2 patients in Group 1 died. While HFGS mean score on admission in all the patient groups was 3.27±0.974, their HFGS mean score at month 1 was 2.53±1.226. There was no difference between the groups in terms of HFGS mean scores on admission and at month 1. Within each groups, there was a significant improvement between initial (on admission) HFGS scores and HFGS scores acquired at month 1. Conclusion - In this study, demyelinating form was more frequent than axonal form. A total of 2 g/kg dose of IVIg treatment administered for 5 days as a standard in GBS patients ensured a significant improvement on both disability and early and late administration and early administration of the treatment does not lead to any difference in intensive care unit and rehabilitation requirements.
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Síndrome de Guillain-Barré/tratamento farmacológico , Imunoglobulinas Intravenosas/uso terapêutico , Adulto , Idoso , Feminino , Síndrome de Guillain-Barré/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos RetrospectivosRESUMO
AIM: To investigate the therapeutic and neuroprotective effects of transcranial direct current stimulation (tDCS) application on the traumatic brain injury (TBI)-induced glutamate and calcium excitotoxicity and loss of motor and cognitive functions. MATERIAL AND METHODS: Forty rats were equally divided in the sham, TBI, tDCS + TBI + tDCS, and TBI + tDCS groups. Mild TBI was induced by dropping a 450-g iron weight from a height of 1 m onto the skull of the rats. The tDCS + TBI + tDCS group was prophylactically administered 1 mA stimulation for 30 min for 7 days starting 5 days before inducing TBI. In the TBI + tDCS group, tDCS (1 mA for 30 min) was administered 2 h after TBI, on days 1 and 2. Cognitive and locomotor functions were assessed using the novel object recognition and open field tests. The calcium, glutamate, and N-methyl-D-aspartate receptor 1 (NMDAR1) levels in the hippocampus were measured using enzyme-linked immunosorbent assay. RESULTS: Although the motor and cognitive functions were substantially reduced in the TBI group when compared with the sham, they improved in the treatment groups (p < 0.05). The calcium, glutamate, and NMDAR1 levels were considerably higher in the TBI group than in the sham (p < 0.001). However, they were considerably lower in the tDCS + TBI + tDCS and TBI + tDCS groups than in the TBI groups (p < 0.05). In particular, the change in the tDCS + TBI + tDCS group was higher than that in the TBI + tDCS group. CONCLUSION: Application of tDCS before the development of TBI improved motor and cognitive dysfunction. It demonstrated a neuroprotective and therapeutic effect by reducing the excitotoxicity via the regulation of calcium and glutamate levels.
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Lesões Encefálicas Traumáticas , Disfunção Cognitiva , Estimulação Transcraniana por Corrente Contínua , Ratos , Animais , Cálcio , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/terapia , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/terapia , GlutamatosRESUMO
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.
Assuntos
Glicoproteína Mielina-Oligodendrócito , Humanos , Masculino , Feminino , Glicoproteína Mielina-Oligodendrócito/imunologia , Adulto , Estudos Retrospectivos , Pessoa de Meia-Idade , Neurite Óptica/sangue , Neurite Óptica/imunologia , Neurite Óptica/diagnóstico por imagem , Neuromielite Óptica/sangue , Neuromielite Óptica/imunologia , Neuromielite Óptica/diagnóstico por imagem , Autoanticorpos/sangue , Autoanticorpos/análise , Idoso , Adolescente , Imunoglobulina G/sangue , Esclerose Múltipla/sangue , Esclerose Múltipla/imunologiaRESUMO
Myelin oligodendrocyte glycoprotein-associated disease (MOGAD) is an inflammatory neurological disease. It progresses with attacks by affecting the optic nerves and spinal cord. Bilateral or recurrent optic neuritis are the most common findings in adult patients. Its association with systemic autoimmune disorders such as Sjögren syndrome, antiphospholipid syndrome, autoimmune thyroiditis, and celiac disease is rare. The first and only case of MOGAD in a patient with ankylosing spondylitis with a history of anti-tumor necrosis factor-alpha (anti-TNF-α) use was reported. Herein, we present the coexistence of MOGAD in a patient with AS who did not have a history of anti-TNF-α therapy.
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This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns.
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BACKGROUND: Follow-on disease modifying therapies (FO-DMTs) do not always require Phase III studies. There are concerns that cheaper FO-DMTs are only used to reduce healthcare costs. However, the well-being of people with MS (pwMS) should be a priority. We aimed to evaluate the efficacy, safety and treatment satisfaction of one of the FO- Fingolimod (FTY) used in Turkey with the approval of Turkish Ministry of Health. METHODS: PwMS under FTY were recruited from 13 centers and real-world data and answers of satisfaction and adherence statements of pwMS on FTY treatment were analyzed. RESULTS: Data of 239 pwMS were obtained. The duration of FTY treatment was 2.5 ± 0.8 (1-4) years in pwMS who were included in the study and whose treatment continued for at least one year. Significant decreases in annual relapse rate (p < 0.001), Expanded Disability Status Scale (p < 0.001) and neuroimaging findings (p < 0.001) were observed. While 64% of the patients were satisfied and 71.5% were found to adherent with this FO-FTY. CONCLUSION: This multicenter retrospective study found that the efficacy, safety and treatment adherence of a prescribed FO-FTY were consistent with the results of real-world studies. Studies including real-world data may provide guidance to address issues related to FO-FTY use.
Assuntos
Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Cloridrato de Fingolimode/efeitos adversos , Esclerose Múltipla/tratamento farmacológico , Imunossupressores/uso terapêutico , Estudos Retrospectivos , Medidas de Resultados Relatados pelo Paciente , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológicoRESUMO
Introduction: Fingolimod is the first oral immunomodulatory treatment used as secondary care therapy in the treatment of multiple sclerosis for the last 10 years. The objective of our study is to reveal the experiences of the first generic fingolimod active ingredient treatment in different centers across Turkey. Method: The first generic fingolimod efficacy and safety data of patients followed-up in 29 different clinical multiple sclerosis units in Turkey were analyzed retrospectively. Data regarding efficacy and safety of the patients were transferred to the data system both before the treatment and on the 6th, 12th and 24th month following the treatment. The data were analyzed using the IBM SPSS 20.00. P value of <0.05 was considered to be statistically significant. Results: A total of 508 multiple sclerosis patients, 331 of whom were women, were included in the study. Upon comparing the Expanded Disability Status values before and after the treatment, a significant decrease was observed, especially at month 6 and thereafter. Since bradycardia occurred in 11 of the patients (2.3%), the first dose had to be longer than 6 hours. During the observation of the first dose, no issues that could prevent the use of the drug occured. Side effects were seen in 49 (10.3%) patients during the course of fingolimod treatment. Respectively, the most frequent side effects were bradycardia, hypotension, headache, dizziness and tachycardia. Conclusion: The observed results regarding efficacy and safety were similar to clinical trial data in the literature and real life data in terms of the first equivalent with fingolimod active ingredient.
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[This corrects the article on p. 23 in vol. 60, PMID: 36911568.].
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The aim of this study was to evaluate the efficacy of steroid injection for the treatment of the carpal tunnel syndrome (CTS), with F-wave parameters and sympathetic skin response (SSR). Seventeen hands of 10 women patients were treated with local steroid injection with 2-month follow-up. All patients underwent single injection into the carpal tunnel. Response to injection was measured nerve conduction studies (NCSs), median nerve F waves, and SSR before and after treatment. To determine the normal values, 42 hands of 21 healthy women were also studied. There was a significant improvement of sensory and motor nerve conduction values when compared to baseline values (P < 0.01). At the end of follow-up period, the median sensory distal latency and the sensory latency differences between the median and the ulnar nerve were improved 35 and 65%, respectively. The maximum, mean F-wave amplitudes and chronodispersion showed a slight improvement with respect to baseline values and controls, but statistical significance was not achieved after treatment. Although no statistically significant improvements were observed in SSR parameters, slightly decreased amplitudes and increased habituation of SSR were noted at the end of the treatment. The present study shows that the local steroid injection results in improvement in NCSs values, but the F-wave parameters were not effectual in short-term outcome of CTS treatment. These findings suggest that the sensory latency differences between the median and the ulnar wrist-to-digit 4 are better parameters in the median nerve recovery after treatment than the median sensory distal latency. Furthermore, the SSR does not seem to be a sensitive method in follow-up of CTS treatment.
Assuntos
Corticosteroides/administração & dosagem , Síndrome do Túnel Carpal/tratamento farmacológico , Dexametasona/análogos & derivados , Nervo Mediano/efeitos dos fármacos , Condução Nervosa/efeitos dos fármacos , Pele/inervação , Sistema Nervoso Simpático/efeitos dos fármacos , Punho/inervação , Adulto , Síndrome do Túnel Carpal/diagnóstico , Síndrome do Túnel Carpal/fisiopatologia , Estudos de Casos e Controles , Dexametasona/administração & dosagem , Eletromiografia , Feminino , Humanos , Injeções , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Neurônios Motores/efeitos dos fármacos , Valor Preditivo dos Testes , Estudos Prospectivos , Tempo de Reação/efeitos dos fármacos , Células Receptoras Sensoriais/efeitos dos fármacos , Sistema Nervoso Simpático/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , TurquiaRESUMO
BACKGROUND/AIM: Multiple sclerosis (MS) is a chronic central nervous system inflammatory disease. Fibrinogen/Albumin ratio (FAR) has been studied as an inflammatory marker in the past, and its significant relationship with inflammation has been shown. In our study, we examined serum levels of albumin, fibrinogen and FAR in patients presenting with MS attack. We investigated its usability in the diagnosis and management of MS attacks. MATERIALS AND METHODS: This retrospective study included 40 patients admitted to hospital with MS attack and 40 control patients. All patients' demographics, medical history, the mean Expanded Disability Status Scale (EDSS), imaging findings and laboratory tests were extracted from medical records. Patients' fibrinogen, albumin levels were recorded in the blood tests performed before steroid administration, and FAR values were calculated. The patients' and controls' results were compared. RESULTS: Fibrinogen and FAR values were significantly higher in the patient group (p<0.001 in both). There was no difference between the patient and control groups in terms of albumin (p = 0,16). No significant relationship was found between parameters such as EDSS, disease duration, smoking status and FAR value (p>0.05 in all). CONCLUSION: Serum fibrinogen and FAR levels in the patients presenting with an attack were significantly higher than the control group. FAR value did not vary with disease duration and EDSS score. Based on this information, FAR may be a useful indicator for MS attack regardless of EDSS and disease duration.
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Esclerose Múltipla , Biomarcadores/sangue , Fibrinogênio/análise , Humanos , Esclerose Múltipla/sangue , Esclerose Múltipla/diagnóstico , Estudos Retrospectivos , Albumina Sérica/análiseRESUMO
Hereditary transthyretin amyloidosis (hATTR) is caused by the mutations of the transthyretin (TTR) gene. Length dependent sensory-motor neuropathy with autonomic involvement is the hallmark of the disease. However, it can manifest with unusual phenotypes. A 53-year-old man presented with progressive weakness in lower limbs and operated for lumbar spinal stenosis. The progression of weakness restarted after two years with the addition of symptoms related to polyneuropathy. Electrodiagnostic studies revealed sensorimotor polyneuropathy with autonomic involvement. Sural nerve biopsy disclosed amyloid deposits. Genetic testing of TTR gene identified Glu89Gln mutation. Two years after the diagnosis, he had another decompressive surgery for lumbar spinal stenosis. Histopathological examination of ligamentum flavum specimens revealed amyloid deposits. During the follow up, he was diagnosed with laryngeal amyloidosis, which is an unusual manifestation. Seven years after the diagnosis, he died due to cardiac complications. Our patient suggested that hATTR with Glu89Gln may present with atypical symptoms. Clinicians should carefully look for hATTR in recurrent lumbar stenosis.
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BACKGROUND: COVID-19 is a multisystemic infection with variables consequences depending on individual and comorbid conditions. The course and outcomes of COVID-19 during neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) are not clearly known. OBJECTIVE/METHODS: The aim of this study was to examine the features and outcomes of COVID-19 infection in NMOSD and MOGAD patients. The patients' demographic and clinical factors, disease modifying treatment (DMT) used and disease information of COVID-19 infection were recorded. Conditions leading to hospitalization and severe exposure to COVID-19 infection were also analyzed. RESULTS: The study included 63 patients from 25 centers. Thirty-two patients (50.8%) belong to AQP-4 seropositive group, 13 (20.6%) and 18 (28.6%) were in MOG-positive and double-seronegative groups, respectively. Risk factors for severe COVID-19 infection and hospitalization were advanced age, high disability level and the presence of comorbid disease. Disease severity was found to be high in double-seronegative NMOSD and low in MOGAD patients. No statistically significant effect of DMTs on disease severity and hospitalization was found. CONCLUSION: In NMOSD and MOGAD patients, advanced age, high disability and presence of comorbid disease pose risks for severe COVID-19 infection. There was no direct significant effect of DMTs for COVID-19 infection.
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COVID-19 , Neuromielite Óptica , Aquaporina 4 , Autoanticorpos/uso terapêutico , COVID-19/complicações , Humanos , Glicoproteína Mielina-Oligodendrócito , Neuromielite Óptica/complicações , Neuromielite Óptica/tratamento farmacológico , Neuromielite Óptica/epidemiologia , SARS-CoV-2RESUMO
BACKGROUND: The aim of this study is to determine the usefulness of Orexin-A levels in differentiating between epileptic seizures and psychogenic non-epileptic seizures in patients presenting to the emergency service with epileptic seizure-type symptoms. METHODS: A total of 80 individuals were included in this study, including 59 who presented to the emergency service within the first four hours of having been diagnosed with generalized tonic-clonic seizures (39 with epileptic seizures (ES) and 20 with pseudoseizures (PNES) and 21 controls. Orexin-A levels were measured in venous blood samples. RESULTS: The mean Orexin-A levels were 5.16 ng/mL in the control group, 7.17 ng/mL in the PNES group, and 11.08 ng/mL in the ES group (Table 1). The mean Orexin-A level of the ES group was significantly different from both the control group and the PNES group (Table 1, p < 0.001); the difference between the control group and the PNES group was not significant (p > 0.05). CONCLUSIONS: Results of this study suggest that blood Orexin-A may be an effective biomarker in the differential diagnosis of epileptic seizures/psychogenic non-epileptic seizures in patients presenting to the emergency service with an epileptic seizure-type clinical picture.
Assuntos
Biomarcadores/sangue , Orexinas/sangue , Convulsões/sangue , Convulsões/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease leading to motor neuron damage. In this study, the clinical, demographic, and genetic features of ALS patients in the city of Sakarya, Turkey, were investigated. Patients with an established diagnosis of ALS according to the Awaji criteria were included. Age, sex, age at onset of ALS, initial complaints, consanguineous marriage, and genetic features were retrospectively investigated. Conventional genetic analysis and NGS were used for molecular evaluation of patients. A total of 55 probands (10 familial, 45 sporadic) in whom ALS was suspected due to their phenotypic features were included. Thirty-two patients were male (58.2%), and 23 were female (41.8%); their mean ages were 62.65 ± 13 years. The mean age of onset for 37 familial patients from 10 families was 49.9 years. Two cases had juvenile-onset. Fourteen (25.5%) bulbar-onset versus 40 (72.7%) limb-onset patients were detected; one patient had both. Six (10.9%) patients showed marked frontotemporal dementia. Twenty-nine (52.7%) patients died during the follow-up period. Genetic analysis identified causative variants in eleven cases, carrying variants in six different ALS genes (C9orf72, SOD1, VCP, SPG11, TBK1, and SH3TC2). Genetic investigations have revealed more than 40 genes to be involved in the pathogenesis of ALS. Our relatively small study cohort restricted to one province of Turkey, however, prone to migration, consists of 10/55 familial ALS cases, which harbor two rare (SH3TC2-p.Met523Thr and TBK1-p.Glu643del) and two novel (SPG11-p.Lys656Valfs*11 and VCP-p.Arg191Pro) mutations contributing to the literature.