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1.
J Mol Neurosci ; 2020 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-32424513

RESUMO

Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The CYP1A2 rs762551 and ADORA2A rs5760423 variants have been previously marginally associated with the risk of PD and are also implicated in caffeine metabolism pathways. The aim of the present study was to evaluate the effect of the CYP1A2 rs762551 and ADORA2A rs5760423 variants on BSP. A Southeastern European Caucasian (SEC) cohort of 206 BSP patients and 206 healthy controls was genotyped for rs762551 and rs5760423. CYP1A2 rs762551 was associated with a decreased BSP risk in the dominant (OR (95% CI) 0.62 (0.41-0.92), p = 0.017), log-additive (OR (95% CI) 0.68 (0.51-0.92), p = 0.011), and co-dominant modes (for the CC genotype OR (95% CI) 0.49 (0.25-0.93), p = 0.038). We provide preliminary evidence that CYP1A2 rs762551 is associated with BSP. Further studies and replication of our results are needed.

2.
Artigo em Inglês | MEDLINE | ID: mdl-32338076

RESUMO

A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was applied to detect the G4C2 repeats expansions. In the studied sALS patients, 5.06% (n = 9) carried the C9orf72 mutation. Among carriers, 2/3 of them were females and spinal onset accounted for 78% and bulbar for 22%, while the mean age of onset was about 60 years. Our study showed that the prevalence of C9orf72 repeat expansion in Greek sALS patients is similar to the overall frequency of the mutation in European populations. The pathogenic mutation remains a promising biomarker for genetic testing and targeted treatment.

3.
Int J Neurosci ; : 1-5, 2020 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-32250197

RESUMO

Background: Α number of genetic variants are considered to confer susceptibility to Parkinson's disease (PD). Rs75392628 (R47H), a rare variant of TREM2 gene, has been linked to PD, although its role on PD remains conflicting.Objective: Detection of a possible contribution of rs75392628 variant of TREM2 gene to PD risk.Methods: A total of 358 PD patients and 358 healthy controls genotyped for rs75392628. In addition, a meta-analysis was performed by merging our results with those from previous studies.Results: The rare variant of rs75932628 (47H) of TREM2 gene was not detected on cohort. Meta-analysis of a total of 9271 PD cases and 9777 controls across 14 independent PD data sets from 9 studies, including the present study, did not show any statistically significant effect of rs75392628 on PD risk (ORFE:1.54 95% CI:0.87-2.73. ORRE: 1.54, 95%CI: 0.71-3.32).Conclusions: Rs75392628 TREM2 variant is rather unlikely to be a major genetic risk contributor of PD.

4.
Eur J Neurol ; 2020 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-32248601

RESUMO

Autoantibodies to GFAP, detected by cell-based-assay (CBA) in the CSF/serum, have been implicated in cerebral astrocytopathy. Herein, we report a patient with autoimmune GFAP astrocytopathy, presenting as a GFAP IgG-associated meningoencephalomyelitis with novel neuroimaging findings.

5.
Mult Scler Relat Disord ; 37: 101422, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32172995

RESUMO

Recent studies implicate B cells in multiple sclerosis (MS) pathogenesis, and consequently, several molecules participating in B cell survival and proliferation, including B-cell activating factor (BAFF), have recently been analyzed in MS patients. BAFF mediates its function through binding to three receptors; among them, its interaction with the BAFF receptor (BAFFR) is crucial in mediating its survival function. Interestingly, two common polymorphisms of the TNFRSF13C gene, encoding BAFFR, P21R (rs77874543) and H159Y (rs61756766), have been reported to affect BAFFR assembly and signaling. In order to evaluate the possible contribution of BAFFR in MS pathogenesis and/or phenotype, we analyzed both TNFRSF13C/BAFFR polymorphisms in 486 MS patients in relation to their disease severity, their disability status and the age of disease onset and duration. As control group, we used allele frequencies extracted from the Exome Aggregation Consortium (ExAC) Browser. Interestingly, we found a higher prevalence of the H159Y polymorphism in MS patients, suggesting that enhanced BAFFR-signaling might contribute to the disease pathogenesis.

6.
Eur J Clin Invest ; 50(5): e13218, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32124432

RESUMO

BACKGROUND: Helicobacter pylori (H pylori) is a Gram-negative bacterium, considered to trigger autoimmune gastrointestinal disorders. This pathogen has also been linked to the autoimmune sequelae in extra-gastrointestinal diseases and peripheral neuropathies. Guillain-Barré syndrome (GBS) is a serious autoimmune demyelinating disorder of peripheral nerves, usually with a post-infectious onset. About 30% of cases of GBS attributed to by Campylobacter jejuni, so, H pylori, could be also involved. Growing evidence suggests the likely involvement of H pylori infection in the development of GBS. The aim of the current study was to therefore estimate the prevalence of H pylori antibodies in GBS. METHODS: A search of the literature was performed, using the PUBMED database, until December 2018. Data were extracted from six case-control studies, and a stratification analysis was conducted according to cerebrospinal fluid (CSF) or serum detection material. RESULTS: Among 29 records found, 6 studies met in the inclusion criteria for the meta-analysis. In the CSF subgroup, 105 participants were involved (40 GBS patients and 65 controls), while the serum subgroup included 325 participants (152 GBS and 173 controls). Data were combined using a fixed-effects model. Anti-H pylori IgG were significantly more prevalent in GBS patients compared to controls, in both CSF (95% CI: 9.66-186.56, OR: 42.45, Pz < .00001) and serum (95% CI: 1.30-4.11, OR: 2.31, Pz: .004) subgroups. CONCLUSION: The present meta-analysis showed a strong association between GBS and the presence of H pylori antibodies, especially in CSF, thereby suggesting a role of H pylori infection in the pathophysiology of GBS.

7.
J Mol Neurosci ; 2020 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-32088842

RESUMO

Alzheimer's disease (AD) is a complex genetic disorder. To date, published data have reported conflicting results on the role of CD33 rs3865444 polymorphism in AD. The present study aimed at evaluating the effect of rs3865444 on AD in a large cohort of Greek native patients with AD. We also conducted a meta-analysis by pooling information from different studies on the same topic. Patients with AD (n = 327) and healthy controls (n = 327) were analyzed and genotyped for rs3865444. Single locus analyses were run to explore possible associations between CD33 rs3865444 polymorphism and AD. Our analysis yielded no significant interaction between AD and the CD33 rs3865444 polymorphism. The lack of interaction between the two variables persisted even after a pooled meta-analysis of 8 studies (with 13 datasets), with 4015 AD cases and 7981 controls. The overall results do not support the hypothesis that CD33 rs3865444 polymorphism increases the risk of AD. The results also suggest that the identification of functional variants in CD33 that are indisputably correlated with AD may be an important factor to investigate in future genetic screening studies.

8.
Public Health Nutr ; 23(3): 439-445, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31439074

RESUMO

OBJECTIVE: The present study aimed to explore the associations between social life and adherence to a healthy dietary pattern, the Mediterranean diet (MD), in a population-representative cohort of older people. DESIGN: Cross-sectional study. Adherence to the MD was evaluated by an a priori score; tertiles of the score, indicating low, medium and high adherence, were used in the analyses. Social life was assessed by a questionnaire evaluating participation in leisure-time activities and the number of social contacts; primary occupation was also recorded and job characteristics were further explored. SETTING: Community-dwelling older adults. PARTICIPANTS: Adults from the Hellenic Longitudinal Investigation of Aging and Diet (HELIAD) study (n 1933; age range 65-99 years). RESULTS: Each unit increase in the number of social contacts/month and in the frequency score of intellectual, social and physical activities was associated with a 1·6, 6·8, 4·8 and 13·7 % increase in the likelihood of a participant being in the high MD adherence group, respectively. The analysis by age group revealed that younger elderly participants had a 1·4, 8·4 and 11·3 % higher likelihood to be in the high adherence group for each unit increase in the number of social contacts/month and in the frequency score of engagement in intellectual and physical activities, respectively. Similar associations were found for older elderly participants with high compared with low MD adherence, except for the intellectual activities. CONCLUSIONS: The present results suggest that high MD adherence is associated with good social life, suggesting a clustering of health-promoting lifestyle factors in older adults.

9.
Nutrition ; 71: 110640, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31812000

RESUMO

BACKGROUND: The number of older adults is increasing rapidly. Malnutrition is a major problem in this age group, which may adversely affect health and quality of life. Several physiological, socioeconomic, and neuropsychological factors can lead to malnutrition. OBJECTIVES: The aim of this study was to evaluate the nutritional status of community-dwelling older adults, and explore the associations of malnutrition risk with physiological, socioeconomic, and neuropsychological characteristics. METHODS: This study is part of the Hellenic Longitudinal Investigation of Aging and Diet study, a cross-sectional observational study in Greece, and study participants were 1831 urban-dwelling elderly individuals (mean age: 73.1 ± 5.9 y; 40.8% men). Risk for malnutrition was assessed with the Determine Your Nutritional Health checklist. Data on age, sex, level of education, marital status, depression, cognitive performance, body mass index, total energy intake, and adherence to the Mediterranean diet were recorded. Correlations and multivariate analyses were performed between these variables and risk for malnutrition. RESULTS: The estimated prevalence of moderate and high nutritional risks was 34.8% and 29.4%, respectively. Risk for malnutrition was associated with marital status (unmarried), increased body mass index, male sex, lower level of education, lower cognitive performance, and lower adherence to the Mediterranean diet (P < 0.05). CONCLUSIONS: Nutritional screening should be performed frequently in all community-dwelling older adults. Health experts should perform nutritional screening in all community-dwelling older adults as part of secondary prevention, and nutrition counselling and support should be offered in those at risk for malnutrition.

10.
J Mol Neurosci ; 70(1): 131-141, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31701440

RESUMO

ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous parents, presenting with cerebellar ataxia and peripheral neuropathy. Whole-exome sequencing revealed the presence of a novel homozygous variant in the SACS gene. The variant was confirmed by Sanger sequencing and found at heterozygous state in both parents. This is the first reported mutation in this gene, in Greek population. This case report further highlights the growing trend of identifying genetic diseases previously restricted to single, ethnically isolated regions in many different ethnic groups worldwide. Additionally, we performed a systematic review of all published cases with SACs mutations. ARSACS seems to be an important cause of ataxia and many different types of mutations have been identified, mainly located in exon 10. We evaluated the mutation pathogenicity in all previously reported cases to investigate possible phenotype-genotype correlations. We managed to find a correlation between the pathogenicity of mutations, severity of the phenotype, and age of onset of ARSACS. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various ARSACS variants.

11.
Postgrad Med ; 131(7): 539-545, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31482757

RESUMO

Objectives: Cardiac autonomic nervous system (ANS) dysfunction is a common feature in patients receiving hemodialysis (HD) therapy, whilst is associated with an increased risk of ventricular arrhythmias and sudden cardiac death. The aim of this study is to investigate and compare the hemodynamic changes and responses of ANS function in HD patients using pupillometry and Heart Rate Variability (HRV) parameters. Methods: Sixteen chronic kidney diseases (CKD) patients receiving HD (52.18 ± 17.7 years) underwent both pupillometric measurements using a portable handheld pupil-measuring device and standard HRV analysis pre HD, every hour and 30 min post-HD session under two different scenarios: at rest while the patient resting at HD bed and when the patient performed a single bout of intradialytic aerobic exercise lasting for 45 min during the second hour of the HD therapy. Results: No significant changes in ANS values were observed in neither of the pupillometric and the HRV values pre HD, for each hour and post-HD session. HRV parameters were significantly correlated with pupillometric parameters at pre HD and immediately after the single bout of intradialytic exercise. ANS activity did not differ during the conventional HD session and during the session included intradialytic exercise. Moreover, sympatho-vagal balance indices deriving from pupillometric assessment showed beneficial changes after the exercise event. Conclusion: Pupillometry is a promising and robust technique with fewer artifacts compared to HRV especially in studies involving exercise sessions. Thus, pupillometry can be used as a complementary tool in the evaluation of cardiac autonomic dysfunction.


Assuntos
Doenças do Sistema Nervoso Autônomo/fisiopatologia , Exercício Físico/fisiologia , Frequência Cardíaca/fisiologia , Pupila/fisiologia , Diálise Renal , Insuficiência Renal Crônica/terapia , Adulto , Idoso , Sistema Nervoso Autônomo/fisiopatologia , Humanos , Pessoa de Meia-Idade , Insuficiência Renal Crônica/fisiopatologia
12.
Artigo em Inglês | MEDLINE | ID: mdl-31413890

RESUMO

Background: Randomized controlled trials (RCTs) are the cornerstone of modern medical research, and their reporting may not always be optimal. The Consolidated Standards of Reporting Trials (CONSORT) statement is an evidence-based means to improve the quality of RCTs' reporting by providing a checklist of recommended items.The aim of this study was to assess the reporting quality of published RCTs on the restless legs syndrome (RLS), based on a checklist arising from the CONSORT statement. Methods: Medical electronic databases were searched for RCTs involving patients with RLS. Inclusion criteria were follows: articles must have been published in English and RLS patients must have been randomized into a minimum of two treatment cohorts of different medicinal orientations. CONSORT-recommended items were marked as "reported" or "not reported," and an overall CONSORT compliance metric was calculated. Comparisons among different time periods, CONSORT-endorsing and non-endorsing, and different levels of impact factor journals were made. Results: Fifty-four eligible trials, published in 21 different scientific journals, were found. The average CONSORT compliance score was 56.6% (23.68-84.21%). CONSORT-endorsing journals had a mean CONSORT compliance of 58.47%, whereas non-endorsing journals had a mean CONSORT compliance of 50.4%. The median CONSORT compliance for articles published in low- (IF<2), medium- (IF 2-7), and high-ranked (IF>7) journals was 52.63, 56.57, and 59.21%, respectively. Only 14 of the 38 CONSORT items (36.8%) were reported in >75% of the articles. Discussion: This study shows that the reporting of RLS-related RCTs is suboptimal, regardless of the time period, the quality of the publishing journal, and the endorsing or non-endorsing of the CONSORT statement.


Assuntos
Bibliometria , Ensaios Clínicos Controlados Aleatórios como Assunto , Síndrome das Pernas Inquietas/terapia , Lista de Checagem , Humanos , Fator de Impacto de Revistas , Editoração , Relatório de Pesquisa
13.
Postgrad Med ; 131(7): 453-460, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31469966

RESUMO

Objectives: Recent evidence suggests an association between functional capacity and cognitive function, at least in older adults. The aim of this cross-sectional study was to examine the association between cognitive function, functional capacity, isokinetic leg strength, health-related quality of life (HRQOL), sleep quality, body fat, handgrip strength, and fatigue among a sample of MS patients. Methods: Fifty-one relapsing-remitting MS patients (age: 38.4 ± 7.1 yrs; 30 females) were recruited and agreed to participate in this study. Cognitive function was assessed by the Paced Auditory Serial Addition Test (PASAT). Functional capacity was examined using various functional tests commonly used in MS patients. Maximal voluntary unilateral leg strength was assessed using isokinetic dynamometer. Isometric handgrip strength was assessed by a dynamometer. Total body and visceral fat levels were assessed via bioelectrical impedance analyzers. Finally, the patients' HRQOL, sleep quality, and fatigue levels were evaluated using specific questionnaires. Results: A significant association was found between the PASAT score and the performance score in various functional capacity tests (p < 0.050). On the other hand, a weak but statistically significant association was found between the PASAT score and isokinetic strength of knee extensors (r = 0.319, p = 0.022) and knee flexors (r = 0.354 p = 0.011). Poor sleep quality was associated with lower performance in all the functional capacity tests examined (p < 0.05) whilst was negatively associated with the PASAT score (r = -0.334, p = 0.017). The multivariate regression analysis revealed that the performance on the TUG test was a significant predictor of cognitive function. Conclusion: Based on the results of this study, functional capacity was found to be associated with both impaired cognitive performance and low HRQOL in MS patients. In addition, an association between sleep quality and cognitive performance was revealed, confirming existing literature. Functional capacity as assessed by the TUG test emerged as the best predictor of cognitive function.


Assuntos
Cognição , Fadiga/fisiopatologia , Força da Mão/fisiologia , Esclerose Múltipla Recidivante-Remitente/fisiopatologia , Qualidade de Vida , Tecido Adiposo , Adulto , Composição Corporal , Estudos Transversais , Impedância Elétrica , Fadiga/psicologia , Feminino , Músculos Isquiossurais , Humanos , Gordura Intra-Abdominal , Perna (Membro) , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Recidivante-Remitente/psicologia , Força Muscular/fisiologia , Testes Neuropsicológicos , Músculo Quadríceps , Sono , Inquéritos e Questionários , Teste de Caminhada
14.
Environ Res ; 177: 108632, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31434017

RESUMO

BACKGROUND: Results from studies to date, regarding the role of chronic pesticide exposure on cognitive function remain contradictory. OBJECTIVE: To investigate the relationship between self-reported pesticide exposure and cognitive function. METHODS: Data from a population-based cohort study of older adults (HEllenic Longitudinal Investigation of Aging and Diet) in Greece was used. Pesticide exposure classification was based on 1) living in areas that were being sprayed; 2) application of spray insecticides/pesticides in their gardens; and 3) occupational application of sprays. Associations between z-scores of cognitive performance and self-reported pesticide exposure were examined with linear regression analyses. Adjusted models were applied, for all analyses. RESULTS: Non-demented individuals who reported that they had been living in areas near sprayed fields, had poorer neuropsychological performance, compared to those who had never lived in such areas. Sub-analyses revealed poorer performance in language, executive and visual-spatial functioning, and attention. These associations remained after a sensitivity analysis excluding subjects with mild cognitive impairment. CONCLUSION: Self-reported exposure to pesticides was negatively associated with cognitive performance.


Assuntos
Cognição , Exposição Ambiental/efeitos adversos , Exposição Ocupacional/efeitos adversos , Praguicidas/efeitos adversos , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Dieta , Feminino , Jardins , Grécia , Humanos , Masculino , Testes Neuropsicológicos
15.
PLoS Med ; 16(7): e1002853, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31335910

RESUMO

BACKGROUND: With no effective treatments for cognitive decline or dementia, improving the evidence base for modifiable risk factors is a research priority. This study investigated associations between risk factors and late-life cognitive decline on a global scale, including comparisons between ethno-regional groups. METHODS AND FINDINGS: We harmonized longitudinal data from 20 population-based cohorts from 15 countries over 5 continents, including 48,522 individuals (58.4% women) aged 54-105 (mean = 72.7) years and without dementia at baseline. Studies had 2-15 years of follow-up. The risk factors investigated were age, sex, education, alcohol consumption, anxiety, apolipoprotein E ε4 allele (APOE*4) status, atrial fibrillation, blood pressure and pulse pressure, body mass index, cardiovascular disease, depression, diabetes, self-rated health, high cholesterol, hypertension, peripheral vascular disease, physical activity, smoking, and history of stroke. Associations with risk factors were determined for a global cognitive composite outcome (memory, language, processing speed, and executive functioning tests) and Mini-Mental State Examination score. Individual participant data meta-analyses of multivariable linear mixed model results pooled across cohorts revealed that for at least 1 cognitive outcome, age (B = -0.1, SE = 0.01), APOE*4 carriage (B = -0.31, SE = 0.11), depression (B = -0.11, SE = 0.06), diabetes (B = -0.23, SE = 0.10), current smoking (B = -0.20, SE = 0.08), and history of stroke (B = -0.22, SE = 0.09) were independently associated with poorer cognitive performance (p < 0.05 for all), and higher levels of education (B = 0.12, SE = 0.02) and vigorous physical activity (B = 0.17, SE = 0.06) were associated with better performance (p < 0.01 for both). Age (B = -0.07, SE = 0.01), APOE*4 carriage (B = -0.41, SE = 0.18), and diabetes (B = -0.18, SE = 0.10) were independently associated with faster cognitive decline (p < 0.05 for all). Different effects between Asian people and white people included stronger associations for Asian people between ever smoking and poorer cognition (group by risk factor interaction: B = -0.24, SE = 0.12), and between diabetes and cognitive decline (B = -0.66, SE = 0.27; p < 0.05 for both). Limitations of our study include a loss or distortion of risk factor data with harmonization, and not investigating factors at midlife. CONCLUSIONS: These results suggest that education, smoking, physical activity, diabetes, and stroke are all modifiable factors associated with cognitive decline. If these factors are determined to be causal, controlling them could minimize worldwide levels of cognitive decline. However, any global prevention strategy may need to consider ethno-regional differences.


Assuntos
Cognição , Disfunção Cognitiva/etnologia , Grupos Étnicos/psicologia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/psicologia , Comorbidade , Diabetes Mellitus/etnologia , Exercício Físico , Feminino , Educação em Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco , Fumar/efeitos adversos , Fumar/etnologia , Acidente Vascular Cerebral/etnologia
16.
Mov Disord ; 34(9): 1345-1353, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31314148

RESUMO

BACKGROUND: Identification and characterization of Parkinson's disease (PD) in its prodromal stage is crucial. OBJECTIVE: The objective of this study was to investigate the association between motor function and the probability of prodromal PD in a community-dwelling older population. METHODS: We used data from a population-based cohort of older adults (HELIAD study). Subjective motor function was evaluated with a 12-item motor symptoms questionnaire and objective motor function indirectly with a physical activity questionnaire and two gait speed tests. The probability of prodromal PD was calculated according to the Movement Disorder Society research criteria for n = 1731 without PD. Regression multiadjusted models were used to investigate the associations between each motor measure and prodromal PD probability. RESULTS: For each unit increase in motor symptoms score and for each kcal/kg/day lower energy expenditure (corresponding to 20 minutes of light walking/day for a 75-kg man) there was a 27% and 3% higher probability for prodromal PD, respectively (P < 0.001). Having at least one subjective motor symptom increased the odds of having possible/probable prodromal PD (n = 49; P < 0.05). Including subjective and indirect motor variables in the same model showed that both (symptoms and physical activity) contributed significantly to the model (P < 0.01). Excluding subthreshold parkinsonism from the calculation showed that gait speed less than 0.8 m/s was also associated with a higher prodromal PD probability score (P < 0.001). CONCLUSIONS: Subjective motor symptoms as well as simple objective motor measures of physical activity or gait speed are associated with a higher probability of prodromal PD in older adults. These data may serve to enable the early identification of prodromal PD cohorts, particularly if they are confirmed in longitudinal studies. © 2019 International Parkinson and Movement Disorder Society.

17.
Neurol Res ; 41(10): 936-942, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31280707

RESUMO

Objectives: In this study, we aimed to explore the extent and clinical relevance of brain volume dynamics in relapsing remitting multiple sclerosis (RRMS). Methods: Sixty-three patients with RRMS with a disease duration of about 5 years (36 women, mean age 39.9 ± 9.4 years; mean EDSS1.4 ± 1.2, mean relapse rate 0.98 ± 1.17) and 50 healthy control individuals (24 women, mean age 39.1 ± 10.2 years) were recruited and imaged on a MRI scanner by using post-gadolinium high-resolution3D T1W sequences. Cross-sectional and longitudinal volumetric data were obtained by using SIENA(X) and FIRST software. Results: Patients showed significantly lower subcortical volumes compared to healthy controls. Interestingly, the educational level predicted the rate of right thalamus atrophy. The mean annualized percentage of brain volume change (aPBVC) was -0.92% (±1.64%) and was presented in higher rates during the first five years after MS diagnosis. Conclusion: Brain atrophy mainly involved subcortical grey matter structures and was more conspicuous during the first years of MS diagnosis. The buffering role of education in atrophy was also corroborated by this study.

18.
J Mol Neurosci ; 69(2): 343-350, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31267315

RESUMO

Α number of genetic variants have been associated with Alzheimer's disease (AD) susceptibility. Sec1 family domain-containing protein 1 (SCFD1) gene polymorphism rs10139154 has recently been implicated in the risk of developing amyotrophic lateral sclerosis (ALS). Similarities in the pathogenetic cascade of both diseases have also been described. The present study was designed to evaluate the possible contribution of SCFD1 rs10139154 to AD. A total of 327 patients with AD and an equal number of healthy controls were included in the study and genotyped for rs10139154. With logistic regression analyses, rs10139154 was examined for the association with the risk of developing AD. In the recessive mode, SCFD1 rs10139154 was associated with a decreased risk of developing AD (odds ratio (OR) (95% confidence interval (CI)) = 0.63 (0.40-0.97), p = 0.036). The current study provides preliminary evidence of the involvement of SCFD1 rs10139154 in the risk of developing AD.


Assuntos
Proteínas Adaptadoras de Transporte Vesicular/genética , Doença de Alzheimer/genética , Polimorfismo de Nucleotídeo Único , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino
19.
Mult Scler Relat Disord ; 35: 116-118, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31362167

RESUMO

BACKGROUND: Multiple Sclerosis is a multifactorial autoimmune disease of the central nervous system, characterized by focal inflammation, demyelination and secondary axonal injury. TREM2 is a signaling protein which participates in the innate immune system by implication to inflammation, proliferation and phagocytosis. The R47H (rs75392628) rare variant of the TREM2 gene has been related to various neurological diseases and leads to impaired signaling, lipoprotein binding, lipoprotein uptake and surface uptake. AIM: To assess the role of TREM2 rs75932628 on MS risk through a genetic candidate gene association case-control study in a Greek population. METHODS: 1246 MS cases and 398 controls were genotyped for this variant. RESULTS: No MS or healthy subjects carried the variant. CONCLUSION: This variant does not seem to play a determining role in the pathogenesis of MS, although further studies examining the presence of TREM2 mutations in other, phylogenetically different populations and the epigenetic regulation of this gene are needed in order to thoroughly investigate its role in MS.

20.
Neurol Res ; 41(9): 836-846, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31146649

RESUMO

Background: The impact of nutrition and diet on the etiology of Multiple Sclerosis (MS) has been evaluated through a number of studies. Only a limited number reported findings on the association between body mass index (BMI) and MS. We systematically assessed whether BMI differs between MS patients and healthy individuals. Methods: The PubMed database was searched for available studies assessing the relationship between BMI and MS until April 2018. Random effects models were applied for evaluating the association of mean BMI between MS, relapsing-remitting MS (RRMS) patients, females, or males with MS, and their respective healthy control groups. Results: We included 25 studies. The mean BMI of MS patients during the course of the disease and RRMS patients was significantly different from the mean BMI of their healthy counterpart individuals [standardized mean difference (SMD) (95% confidence interval (CI)): -0.25 (-0.44, -0.06), PZ = 0.01 and SMD (95%): -0.27 (-0.54, -0.01), PZ = 0.04, respectively]. The mean BMI of females with MS was significantly differentfrom that of corresponding healthy females [SMD (95% CI): -0.52 (-0.96, -0.07), PZ = 0.02]. Moreover, the mean BMI was significantly different between males with MS and healthy males [SMD (95% CI): -0.75 (-1.33, -0.18), PZ = 0.01]. Conclusions: Statistically significantly lower mean BMI was revealed in the overall MS patients' group during the MS course than in healthy controls. The same difference was revealed in all parts of the meta-analysis demonstrating a significantly lower BMI in patients with RRMS, in females, and in males with MS, when compared to their respective healthy individuals.


Assuntos
Índice de Massa Corporal , Esclerose Múltipla/fisiopatologia , Fatores Sexuais , Adulto , Feminino , Heterogeneidade Genética , Humanos , Masculino , Esclerose Múltipla/metabolismo , Fatores de Risco
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