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1.
Sleep Sci ; 17(1): e82-e89, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38545237

RESUMO

Objective Obstructive sleep apnea syndrome (OSAS) is characterized by episodic cessations of breathing due to upper airway obstruction during sleep, which may cause disturbances in dietary patterns resulting from appetite-related hormonal changes. The aim of the present study was to investigate the relationship between OSAS and nutritional and dietary patterns. Materials and Methods A total of 20 female and 53 male OSAS patients aged > 30 years were enrolled. Demographic data, as well as data on smoking and alcohol habits, were noted, anthropometric measures were made, and a questionnaire regarding chronic diseases including OSAS and four questionnaires on recent food intake frequency and content of nutrition were filled out. The content of nutrition was noted under seven categories: meat, legumes, milk and dairy products, fruits and vegetables, bread and cereals, fat and carbohydrates, and beverages. Results The severity of OSAS (assessed by the apnea-hypopnea index. AHI) was positively correlated with the body mass index (BMI), the circumferences of the waist, chest, and buttocks, and, in males, with the circumference of the neck as well. There was no correlation between the AHI and nutritional habits in terms of the frequency of meals or snacks, the scores on the Snoring, Tiredness, Observed Apnea, and High Blood Pressure-Body Mass Index, Age, Neck Circumference, and Gender (STOP-BANG) Questionnaire and the corresponding macro- and micronutrients. Worsening apnea scores led to increased intake of macronutrients of carbohydrate and protein and micronutrients of niacin and pyridoxine ( p < 0.05), and decreased intake of fat ( p < 0.05). Conclusion The present study demonstrated an association between OSAS severity and recent food intake, manifested in increased intake of carbohydrates, niacin, and pyridoxine, and decreased fat intake.

2.
Mult Scler Relat Disord ; 77: 104880, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37459716

RESUMO

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 farmacológico
3.
Turk J Med Sci ; 53(3): 771-779, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37476900

RESUMO

BACKGROUND: Disease-modifying treatments (DMT) are used to prevent future relapses and disability. High long-term adherence to treatment is important to achieve disease control. This study aims to investigate and compare adherence, adverse event (AE) profiles, and frequencies, main reasons for treatment discontinuation under Teriflunomide (TERI), Dimethyl Fumarate (DMF), and Fingolimod (FNG) for relapsing-remitting MS (RRMS) patients. This study is designed to explore patient-reported experiences in real-life settings. METHODS: Patients who were older than 18 years with a definite diagnosis of RRMS and no history of stem-cell transplantation were included. Outpatient clinic data files at the Neurology Department of Marmara University from June 2012 to June 2019 were examined retrospectively. RESULTS: One hundred and ninety MS patients were enrolled. 118 FNG, 51 DMF, 44 TERI treatment cycles were recorded. Time sincedisease onset, time since diagnosis, and treatment duration were significantly longer for FNG (p = 0.012, p = 0.004, p < 0.001). 72.8% of all the treatment cycles were continued. There was no significant difference in treatment continuity between the 3 DMT groups. The most common reasons for treatment discontinuation in order of frequency were adverse events, the progression of the disease, and the persistence of relapses. No significant difference was found for treatment discontinuation reasons. 32% of the patients reported at least one AE. 28% FNG, 49 % DMF, and 27.3% TERI using patients reported AEs. AEs were much more frequently reported for DMF (p = 0.015). The most common adverse events for each DMT were alopecia (n = 6, 13.6%) for TERI, flushing for DMF (n = 20, 39.2%), and persistent lymphopenia for FNG (n = 9, 7.6%). No severe or life-threatening AE was reported for DMF, one patient experienced pancreatitis under TERI, and 11 (9.3%) patients using FNG had to stop treatment due to serious or life-threatening AEs including cardiac adverse events, opportunistic infections, and dysplasia. DISCUSSION: Overall treatment discontinuation because of AEs is as low as 10.3% in this study. However, AEs are still the main reason for treatment drop-out.


Assuntos
Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Imunossupressores/efeitos adversos , Estudos Retrospectivos , Universidades , Cloridrato de Fingolimode/efeitos adversos , Fumarato de Dimetilo/efeitos adversos , Recidiva
4.
Am J Ophthalmol ; 250: 138-148, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36669610

RESUMO

PURPOSE: This study aims to investigate the role of in vivo corneal confocal microscopy (IVCCM) in the detection of corneal inflammatory activity and subbasal nerve alterations in patients with multiple sclerosis (MS) and to further determine whether IVCCM can be used to detect (acute) disease relapse. DESIGN: Prospective cross-sectional study, with a subgroup follow-up. METHODS: This single-center study included 58 patients with MS (MS-Relapse group [n = 27] and MS-Remission group [n = 31]), and 30 age- and sex-matched healthy control subjects. Patients with a history of optic neuritis or trigeminal symptoms were excluded. Corneal nerve fiber density (CNFD), corneal nerve branch density (CNBD), corneal nerve fiber length (CNFL), and dendritic cell (DC) density were evaluated in all patients with MS and control subjects by IVCCM. Patients in the MS-Relapse group who were in remission for ≥6 months after the MS incident underwent a repeat IVCCM. RESULTS: No statistical difference was observed between the MS-Relapse and MS-Remission groups regarding age, sex, MS duration, and the number of relapses (P > .05). Compared with healthy control subjects, all subbasal nerve parameters were significantly lower (CNFD: P < .001, CNFL: P < .001, CNBD: P < .001), and the DC density was significantly higher (P = .023) in patients with MS. However, no significant difference was observed between MS-Relapse and MS-Remission groups in terms of CNFD (mean [SE] difference -2.05 [1.69] fibers/mm2 [95% confidence interval {CI} -1.32 to 5.43]; P < .227), CNFL (mean [SE] difference -1.10 [0.83] mm/mm2 [95% CI -0.56 to 2.75]; P < .190), CNBD (mean [SE] difference -3.91 [2.48] branches/mm2 [95% CI -1.05 to 8.87]; P < .120), and DC density (median [IQR], 59.38 [43.75-85.0] vs 75.0 [31.25-128.75]; P = .596). The repeat IVCCM in relapse patients (n = 16 [59.3%]) showed a significant increase in CNFD (P = .036) and CNBD (P = .018), but no change was observed in CNFL (P = .075) and DC density (P = .469). CONCLUSION: Although increased inflammation and neurodegeneration can be demonstrated in patients with MS compared with healthy control subjects, a single time point evaluation of IVCCM does not seem to be sufficient to confirm the occurrence of relapse in patients with MS. However, IVCCM holds promise for demonstrating early neuroregeneration in patients with MS.


Assuntos
Esclerose Múltipla , Humanos , Estudos Prospectivos , Esclerose Múltipla/diagnóstico , Estudos Transversais , Córnea/inervação , Microscopia Confocal
5.
Sleep Med ; 94: 17-25, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35447401

RESUMO

INTRODUCTION: Narcolepsy type 1 (NT1) is caused by hypocretin deficiency, the pathophysiology of narcolepsy type 2 (NT2) has not been delineated. Except for the hypocretin deficiency and cataplexy, all clinical and laboratory features used in the diagnosis of NT2 are identical to those used for NT1. The aim of this study was to assess the rapid eye movement (REM) sleep-related characteristics in the patients with narcolepsy; the characteristics of REM sleep in polysomnography (PSG) and multiple sleep latency test (MSLT) recordings, the quantification of REM sleep without atonia (RSWA) and atonia index, and the analysis of rapid eye movements (REMs) during REM sleep. MATERIALS AND METHODS: This study was planned by the Sleep Medicine Study Group of the Turkish Neurology Society, and conducted in 11 centers in eight cities in Turkey. The analysis of RSWA was analyzed by reviewing all REM sleep periods on nocturnal PSG and MSLT recordings per standard criteria. The total duration of the increased muscle tone during REM sleep in the chin and bilateral leg electromyography (EMG) recordings was calculated as RSWA index. The REMs index was also investigated the relation to the RSWA. RESULTS: A total of 274 patients were involved; 147 patients (53.6%) were males and 127 patients (46.4%) were females; the mean age was 29.1 ± 12.0 years. The diagnosis of NT1 was made in 166 patients (60.6%), and 108 patients (39.4%) were diagnosed as having NT2. The mean Epworth sleepiness scale score was significantly higher in patients with NT1 than the patients with NT2 (P = 0.001). The diagnosis of REM sleep behavior disorder (RBD) was made in 19.3% of the patients with NT1 versus in 2.8% of the patients with NT2 (P < 0.001). The percentage of SOREMP in PSG recordings was significantly higher in patients with NT1 (37.1%) than those with NT2 (18.9%, P = 0.001). MSLT showed that the mean sleep latency was shorter in patients with NT1 compared to those with NT2 (P < 0.001). The total duration of REMs on electrooculography recordings was also significantly higher in patients with RSWA in comparison with the patients without RSWA (P = 0.002). Total duration of REMs was significantly and positively correlated with the duration of RSWA on chin-EMG and leg-EMG recordings (P = 0.001). ROC analyses showed an RSWA index of ≥2% for the RSWA on chin-EMG with a sensitivity of 86.7% and a specificity of 71.3% (P < 0.001). The REMs index ≥20% was associated with the presence of RSWA with a sensitivity of 70.0% and a specificity of 57.1% (P = 0.008). CONCLUSIONS: In this nation-wide study, we identified for the first time that the increase in REMs density during REM sleep may be a major correlate of the RSWA. Significant positive correlations were demonstrated between the total duration of REMs on electrooculography recordings and the mean durations of RSWA in both chin and leg EMG recordings. A REMs index of >20% was demonstrated to have a moderate sensitivity and specificity in the diagnosis of RSWA. As observed in chin RSWA index, REMs index also showed a significantly high association with RBD, in comparison to RSWA per standard criteria.


Assuntos
Narcolepsia , Transtorno do Comportamento do Sono REM , Adolescente , Adulto , Feminino , Humanos , Masculino , Narcolepsia/diagnóstico , Orexinas , Transtorno do Comportamento do Sono REM/diagnóstico , Estudos Retrospectivos , Sono , Sono REM/fisiologia , Turquia , Adulto Jovem
6.
Turk Neurosurg ; 32(3): 398-405, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34936074

RESUMO

AIM: To investigate the effects of subthalamic deep brain stimulation (STN DBS) therapy on sleep quality of Parkinson?s Disease (PD) patients and the relationship between sleep, motor symptoms, depression, and adverse effects of dopamine replacement therapies. MATERIAL AND METHODS: A total of 26 PD patients have been included and assessed using various tools both 1 week before and 8 months after the STN DBS therapy. The data collection tools were the Unified Parkinson?s Disease Rating Scale (UPDRS), Beck Depression Inventory (BDI), Montreal Cognitive Assessment (MoCA), Parkinson?s Disease Questionnaire (PDQ-39), Pittsburgh Sleep Quality Index (PSQI), Insomnia Severity Index (ISI), Epworth Sleepiness Scale (ESS) and Polysomnography. RESULTS: PSQI, ISI, and ESS scores were found to have significantly improved after the STN DBS therapy (p=0.002, p=0.006, p < 0.001, respectively), as were the scores obtained from several PSQI sub-scales, that is, sleep duration, sleep disturbance and daytime dysfunction (p=0.023, p=0.005, p=0.032, respectively). Additionally, Wake Times After Sleep Onset (WASO) (p=0.047) and Rapid Eye Movement (REM) sleep latency values (p=0.005) were found to have decreased after the STN DBS treatment, whereas REM sleep durations (p=0,028) and REM sleep percentages (p=0.007) were found to have increased, after the STN DBS therapy. No correlation was found between the ESS scores and Levodopa Equivalent Dosage (LED) or between the scores obtained from the sleep scales and the scores obtained from the UPDRS and BDI. There was also no correlation between sleep scores and other PD-related factors. CONCLUSION: The findings of this study indicated that STN DBS therapy positively affected the PD patients? sleep. This result was attributed to the neuromodulatory effects of the STN DBS independent of the motor symptoms, depression levels, and LED decrease.


Assuntos
Estimulação Encefálica Profunda , Doença de Parkinson , Núcleo Subtalâmico , Estimulação Encefálica Profunda/efeitos adversos , Humanos , Levodopa , Doença de Parkinson/complicações , Doença de Parkinson/terapia , Qualidade do Sono , Núcleo Subtalâmico/fisiologia , Resultado do Tratamento
7.
Noro Psikiyatr Ars ; 58(4): 289-291, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34924789

RESUMO

INTRODUCTION: Diabetic polyneuropathy (DPN) is a major chronic neurological complication of diabetes mellitus (DM) and typically presents as diabetic sensory polyneuropathy (DSPN). Whereas some patients with similar risk factors develop polyneuropathy, others don't, which suggests that genetics plays an important role in the progression of disease. The proteasome modulator 9 gene (PSMD9) is a transcriptional regulator of the insulin gene and its variants cause beta-cell dysfunction that devastates insulin transcription. The aim of this study was to determine the correlation between PSMD9 rs14259 polymorphism and the risk of DSPN in Turkish DM patients with DPN. METHODS: The study included 31 DM patients with DSPN and 29 healthy controls. All participants underwent electrophysiological investigation. In addition, DNA was isolated from peripheral blood samples for the genotyping of PSMD9 rs14259 polymorphism. RESULTS: Mean age in the DSPN and control groups was 58.03±9.59 years and 57.62±12.32 years, respectively. There were significant differences between the DSPN and controls groups in the frequencies of the genotype for AA (n=9 and n=12, respectively), AG (n=10 and n=15, respectively), and GG (n=12 and n=2, respectively). According to the distribution of PSMD9 rs14259 polymorphism, 45.2% (n=28) of the patients and 67.2% (n=39) of the controls had the A allele, and 54.8% (n=34) of the patients and 32.8% (n=19) of the controls had the G allele, whereas the frequency of the G allele of rs14259 was significantly higher in the DSPN group (X2=1.059, P=0.015) than in the control group (OR: 2.49; 95% CI: 1.18-5.23). CONCLUSION: The present findings show that the GG genotype and G allele of PSMD9 rs14259 polymorphism may be associated with an increased risk of DSPN in Turkish DM patients.

8.
Clin Neurol Neurosurg ; 207: 106749, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34126453

RESUMO

BACKGROUND: The aim of the present study was to determine the possible risk of OSAS in patients with MS through the STOP-BANG questionnaire, and to confirm the pre-diagnosis of OSAS by recording polysomnographic investigation in individuals with high risk. In addition, the relationship between OSAS risk and fatigue, sleepiness, depression, and disability status will be examined. METHODS: Totally 97 patients with multiple sclerosis including 36 males and 61 females with an age average of 39.92 ± 9.11 years. All participants completed the following questionnaires: STOP-Bang, Fatigue Severity Scale (FSS), Epworth sleepiness scale (ESS), Beck Depression Inventory (BDI); disability status of the participants was assessed by Expanded Disability Status Scale (EDSS). Polysomnographic sleep record was applied to the patients with high risk of OSAS according to STOP-BANG test scores. RESULTS: The STOP_BANG questionnaire revealed that 24.7% of the patients were screened as high risk for OSA. Approximately 11.3% of the patients were detected positive for OSAS based on PSG recording. Comparison of MS patients with high risk of OSA with others suggested a significant difference in terms of the age (p = 0.01). ESS positive scores were significantly correlated with positive STOP BANG outcomes (p < 0.001). ESS positive scores were negatively correlated with positive PSG outcomes. CONCLUSION: The prevalence of OSAS in MS patients based on questionnaire and PSG was found consistent with literature. Similar to the general population, increasing age was found as a risk factor for OSAS in patients with MS. STOP-BANG test may not be an adequate test to diagnose OSAS, especially in MS patients with high fatigue scores.


Assuntos
Esclerose Múltipla/complicações , Apneia Obstrutiva do Sono/epidemiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Medição de Risco , Fatores de Risco , Transtornos do Sono-Vigília/epidemiologia , Inquéritos e Questionários
9.
Noro Psikiyatr Ars ; 57(4): 299-302, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33354122

RESUMO

INTRODUCTION: Spinal cord lesions in Multiple Sclerosis (MS) patients are associated with a higher risk of restless legs syndrome (RLS). In this study, we investigated the prevalence of RLS, sleep quality, presence and severity of depression, and the relationship of these parameters with cervical cord lesions in patients with RRMS. METHODS: This study was conducted in the outpatient multiple sclerosis clinic of Marmara University Hospital between October 2013 - February 2014, including 93 patients with the diagnosis of MS. After signing informed consent, demographic data, comorbidities and actual medication of the patients were collected. All patients completed the surveys including Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS) and Beck Depression Inventory (BDI). Prevalence of HBS, sleep quality and depression severity were compared between those with and without cervical cord lesions. Furthermore, the relationship between RLS and sleep quality, depression and expanded disability status scale (EDSS) was assessed. RESULTS: From overall patients, 72% were women (n=67) and 28% (n=26) were men. From all subjects, 32% (n=30) fulfilled IRLSSG diagnostic criteria. Fifty-seven percent of the patients (n=53) had pathological spinal cord lesions. Patients with RLS had significantly higher prevalence of pathological spinal cord lesions compared to patients without RLS (p=0.04). Sleep quality was found to be poor in both patients with cervical cord lesions and patients with RLS and this was statistically significant (p=0.031, p=0.0001). CONCLUSIONS: In summary, the possibility of RLS development in RRMS patients increases with the presence of lesions in spinal cord. Sleep quality was found to be poor in both patients with cervical cord lesions and patients with RLS. As RLS is a potentially treatable condition, increased awareness of diagnosis of RLS in MS patients may be important for early treatment and improve the comfort of the patient.

10.
BMC Neurol ; 18(1): 48, 2018 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-29685115

RESUMO

BACKGROUND: Congenital sphingosine-1-phosphate (S1P) lyase deficiency due to biallelic mutations in SGPL1 gene has recently been described in association with primary adrenal insufficiency and steroid-resistant nephrotic syndrome. S1P lyase, on the other hand, is therapeutically inhibited by fingolimod which is an oral drug for relapsing multiple sclerosis (MS). Effects of this treatment on adrenal function has not yet been evaluated. We aimed to test adrenal function of MS patients receiving long-term fingolimod treatment. METHODS: Nineteen patients (14 women) with MS receiving oral fingolimod (Gilenya®, Novartis) therapy were included. Median age was 34.2 years (range; 21.3-44.6 years). Median duration of fingolimod treatment was 32 months (range; 6-52 months) at a dose of 0.5 mg/day. Basal and ACTH-stimulated adrenal steroid measurements were evaluated simultaneously employing LC-MS/MS based steroid panel. Basal steroid concentrations were also compared to that of sex- and age-matched healthy subjects. Cortisol and 11-deoxycortisol, 11-deoxycorticosterone and dehydroepiandrosterone were used to assess glucocorticoid, mineralocorticoid and sex steroid producing pathways, respectively. RESULTS: Basal ACTH concentrations of the patients were 20.8 pg/mL (6.8-37.8 pg/mL) (normal range; 5-65 pg/mL). There was no significant difference in the basal concentrations of cortisol, 11-deoxycortisol, 11-deoxycorticosterone and dehydroepiandrosterone between patients and controls (p = 0.11, 0.058, 0.74, 0.15; respectively). All patients showed adequate cortisol response to 250 mcg IV ACTH stimulation (243 ng/mL, range; 197-362 ng/mL). There was no significant correlation between duration of fingolimod treatment and basal or ACTH-stimulated cortisol or change in cortisol concentrations during ACTH stimulation test (p = 0.57, 0.66 and 0.21, respectively). CONCLUSION: Modification and inhibition of S1P lyase activity by the long-term therapeutic use of fingolimod is not associated with adrenal insufficiency in adult patients with MS. This suggests that S1P lyase has potentially a critical role on adrenal development rather than the function of a fully mature adrenal gland.


Assuntos
Glândulas Suprarrenais/efeitos dos fármacos , Aldeído Liases/efeitos dos fármacos , Cloridrato de Fingolimode/efeitos adversos , Imunossupressores/efeitos adversos , Esclerose Múltipla/tratamento farmacológico , Insuficiência Adrenal/induzido quimicamente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
Noro Psikiyatr Ars ; 54(1): 78-81, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28566964

RESUMO

INTRODUCTION: We aimed to assess central and peripheral nervous system involvement in systemic lupus erythematosus (SLE) patients without any neurological signs and symptoms by performing electrophysiological investigations. METHODS: Thirty-eight SLE patients and 35 healthy volunteers participated in this study. Peripheral nerve conduction and brainstem reflexes were evaluated by performing nerve conduction studies (NCSs) and blink reflex (BR) and masseter inhibitory reflex (MIR) recordings. RESULTS: Eleven patients (29%) had an abnormality in at least 1 NCS parameter, and 1 (2.6%) patient was diagnosed with polyneuropathy. The number of patients with abnormal BR and MIR was 23 (60.5%) and 14 (37%), respectively. The contralateral R2 latency of BR and the silent period 1 (SP1) latency of MIR were significantly prolonged in the patients compared with the controls (p=0.015 and p<0.001, respectively). CONCLUSION: This study showed that irrespective of peripheral nervous system involvement, brainstem reflexes could be affected in SLE patients even without clinical neurological findings. Brainstem reflex abnormalities suggested that the functional integrity of the inhibitory or excitatory interneurons in the lateral caudal pons and lateral medulla is disturbed in SLE patients.

12.
Parkinsonism Relat Disord ; 39: 64-70, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28347615

RESUMO

INTRODUCTION: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported. METHODS: We sequenced the entire coding region of C19orf12 in 15 Turkish adult probands with idiopathic NBIA. We also performed haplotype analysis in families with a recurrent C19orf12 mutation. Clinical features were collected using a standardized form. RESULTS: Nine of our 15 probands (60%) carried the homozygous c.32C > T mutation in C19orf12 (predicted protein effect: p.Thr11Met). This homozygous mutation co-segregated with the disease in all affected relatives available for testing (16 homozygous subjects). Haplotypes across the C19orf12 locus were identical for a very small region, closest to the mutation, suggesting an old founder, or, two independent founders. The clinical phenotype was characterized by adult onset in most cases (mean 24.5 years, range 10-36), and broad spectrum, including prominent parkinsonism, pyramidal signs, psychiatric disturbances, cognitive decline, and motor axonal neuropathy, in various combinations. On T2- or susceptibility weighted-MRI images, all patients displayed bilateral hypointensities in globus pallidus and substantia nigra, without an eye-of-the-tiger sign; however, hyperintense streaking of the medial medullary lamina between the external and internal parts of globus pallidus was observed frequently. CONCLUSION: The C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with MPAN. These findings contribute to the characterization of this important NBIA form, and have direct implications for genetic testing of patients of Turkish origin.


Assuntos
Predisposição Genética para Doença/genética , Proteínas Mitocondriais/genética , Mutação/genética , Doenças Neurodegenerativas/genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Saúde da Família , Feminino , Haplótipos , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Metionina/genética , Doenças Neurodegenerativas/complicações , Doenças Neurodegenerativas/diagnóstico por imagem , Treonina/genética , Turquia , Adulto Jovem
13.
Tohoku J Exp Med ; 239(1): 73-9, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-27212074

RESUMO

Diabetic polyneuropathy is the most common neurologic complication of diabetes mellitus. Underlying mechanisms of diabetic polyneuropathy are related to various metabolic and inflammatory pathways. Pentraxin 3 (PTX3) is an acute phase protein that is produced locally at the inflammatory sites by several cell types. Thioredoxin binding protein 2 (TBP2) is a thioredoxin regulator involved in intracellular energy pathways and cell growth. We measured the plasma levels of PTX3 and TBP2 in type 2 diabetic patients (n = 27) with pain complaints and compared their levels with those of healthy age- and sex-matched subjects (n = 24). Moreover, the diabetic patients were divided into two groups using the Leeds Assessment of Neuropathic Symptoms and Signs (LANSS) pain scale: patients with nociceptive pain that is caused by tissue damage and patients with neuropathic pain that is caused by nerve damage. Patients with LANSS scores of < 12 were considered to have nocicceptive pain (n = 15), while patients with LANSS scores of ≥ 12 were considered to have neuropathic pain (n = 12). We found that PTX3 levels were significantly higher in diabetic patients compared to controls (p = 0.03), but there was no significant difference in the TBP2 levels. Importantly, patients with nociceptive pain had significantly higher PTX3 levels compared to patients with neuropathic pain (p < 0.05). Thus, plasma PTX3 levels can be helpful for discrimination of nociceptive pain from neuropathic pain in diabetic patients. We propose that PTX3 may contribute to the onset of nociceptive pain.


Assuntos
Proteína C-Reativa/análise , Diabetes Mellitus Tipo 2/complicações , Neuropatias Diabéticas/sangue , Dor Nociceptiva/sangue , Componente Amiloide P Sérico/análise , Proteína C-Reativa/metabolismo , Neuropatias Diabéticas/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dor Nociceptiva/fisiopatologia , Medição da Dor , Componente Amiloide P Sérico/metabolismo
14.
J Clin Neurol ; 12(2): 166-71, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26790466

RESUMO

BACKGROUND AND PURPOSE: We compared the motor-unit number estimation (MUNE) findings in patients who presented with signs and/or findings associated with carpal tunnel syndrome (CTS) and healthy controls, with the aim of determining if motor-unit loss occurs during the clinically silent period and if there is a correlation between clinical and MUNE findings in CTS patients. METHODS: The study investigated 60 hands of 35 patients with clinical CTS and 60 hands of 34 healthy controls. Routine median and ulnar nerve conduction studies and MUNE analysis according to the multipoint stimulation method were performed. RESULTS: The most common electrophysiological abnormality was reduced conduction velocity in the median sensory nerve (100% of the hands). The MUNE value was significantly lower for the patient group than for the control group (p=0.0001). ROC analysis showed that a MUNE value of 121 was the optimal cutoff for differentiating between patients and controls, with a sensitivity of 63.3% and a specificity of 68.3%. MUNE values were lower in patients with complaints of numbness, pain, and weakness in the median nerve territory (p<0.05, for all comparisons), and lower in patients with hypoesthesia than in patients with normal neurological findings (p=0.023). CONCLUSIONS: The MUNE technique is sensitive in detecting motor nerve involvement in CTS patients who present with sensorial findings, and it may be useful in detecting the loss of motor units during the early stages of CTS. Larger-scale prospective clinical trials assessing the effect of early intervention on the outcome of these patients would help in confirming the possible benefit of detecting subclinical motor-unit loss in CTS.

15.
BMJ Case Rep ; 20152015 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-26032704

RESUMO

Herpes zoster is a secondary reactivation of primary contagious varicella-zoster virus in the dorsal root ganglia. While thoracic zona is common, cervical dermatomal zona is a rare segmental complication of herpes zoster and can be easily misdiagnosed as other diseases. This article describes a patient with initial neuralgia without dermatomal lesions that was treated as ulnar nerve entrapment syndrome until manifestation of herpetiform cutaneous lesions appeared. It is important that clinicians should be aware of the possibility of zoster infection when evaluating the onset of neuralgia in a dermatomal distribution in the upper limb, especially without rash.


Assuntos
Erros de Diagnóstico , Exantema/diagnóstico , Mãos/patologia , Herpes Zoster/diagnóstico , Neuralgia/diagnóstico , Síndromes de Compressão do Nervo Ulnar/diagnóstico , Nervo Ulnar/patologia , Exantema/etiologia , Exantema/virologia , Feminino , Gânglios Espinais/virologia , Herpes Zoster/complicações , Herpes Zoster/virologia , Herpesvirus Humano 3 , Humanos , Pessoa de Meia-Idade , Pescoço , Neuralgia/etiologia , Neuralgia/virologia , Pele/patologia
16.
Int J Neurosci ; 125(11): 817-22, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25271802

RESUMO

OBJECTIVE: This study aimed to assess palmar cutaneous branch of the median nerve (PCBm) conduction in patients with clinically diagnosed carpal tunnel syndrome (CTS), to compare PCBm conduction with that of the median and ulnar nerves, and to determine the PCBm conduction abnormality rate in patients with CTS. MATERIALS AND METHODS: The study included 99 hands of 60 patients with clinical CTS and 38 hands of 38 healthy controls. Sensory nerve conduction study (NCS) was performed on the median nerve, ulnar nerve, and PCBm, and onset latency, conduction velocity and amplitude were recorded. Additionally, differences in latency and velocity between the median nerve and PCBm, and the difference in latency between the median and ulnar nerves were calculated. RESULTS: In all, 56% of the patients with CTS had abnormal PCBm conduction. Additionally, in 7 of 8 hands with abnormal sensation--both in the thenar eminence and abnormal sensory distribution along the main branch--NCS of the PCBm was also abnormal. CONCLUSIONS: The PCBm is not ideal as a comparator nerve for the neurophysiological diagnosis of CTS. The frequency of PCBm abnormality in CTS patients may be related to the concomitant damage in both of these nerves. Additionally, the present findings may help explain, at least in part, why patients with CTS often exhibit sensory involvement beyond the classical median nerve sensory borders.


Assuntos
Síndrome do Túnel Carpal/diagnóstico , Síndrome do Túnel Carpal/fisiopatologia , Mãos/inervação , Mãos/fisiopatologia , Nervo Mediano/fisiopatologia , Condução Nervosa , Adulto , Eletromiografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Adulto Jovem
17.
Muscle Nerve ; 49(1): 84-9, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23588824

RESUMO

INTRODUCTION: In this study we investigated the clinical utility of single fiber conduction velocity (SF-CV) testing in the evaluation of motor nerve function in diabetic patients with signs and symptoms of symmetrical distal sensory polyneuropathy (DSP). SF-CV findings were compared with conventional nerve conduction studies (NCS). METHODS: Twenty-eight consecutive type 2 diabetic patients with clinically diagnosed DSP were studied. RESULTS: SF-CV testing of the tibial nerve was abnormal in 16 (57.1%) patients. Twelve patients with normal conventional motor NCS had abnormal findings by tibial SF-CV. SF-CV testing of the tibial nerve was significantly superior to all other motor NCS. CONCLUSIONS: SF-CV testing of the tibial nerve often demonstrates motor nerve impairment in diabetic patients with sensory DSP when conventional NCS are normal.


Assuntos
Nefropatias Diabéticas/fisiopatologia , Neurônios Motores/fisiologia , Fibras Nervosas/fisiologia , Condução Nervosa/fisiologia , Adulto , Idoso , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/diagnóstico , Nefropatias Diabéticas/etiologia , Eletrofisiologia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nervo Tibial/fisiopatologia , Nervo Ulnar/fisiopatologia
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