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PURPOSE: It is not clear whether cognitive functions are impaired in young patients with acute coronary syndrome (ACS). This study aims to detect whether or not there is cognitive impairment and cerebral changes in young patients with ACS undergoing percutaneous coronary intervention (PCI). PATIENTS AND METHODS: All 50 patients with ACS who were treated with primary PCI were eligible for this prospective study. All participants had normal cognitive function before ACS. Brain magnetic resonance imaging (MRI) was performed to quantify changes in brain white and gray matter. Cognitive functions (CFs) were evaluated by seven cognitive tests. Patients were categorized by MRI findings and test scores were compared from the first day to after the first month. RESULTS: We determined 25 patients with impaired CFs on the first day. After the first month, we identified 18 patients with transient impaired CFs. No structural difference was observed between impaired CF and normal CF. While 25 patients had a score of 1 according to Fazekas, 10 patients had a score of 1 according to MTLA. While the mean Stroop test completion time and Stroop test error rate scores were significantly higher on the first day than after the first month in the Fazekas+ group (p = 0.003, p < 0.001, respectively), other cognitive test scores-except clock drawing test, digital span forwards, and backwards-were significantly lower on the first day compared to after the first month in the Fazekas+ group (p < 0.05). CONCLUSIONS: Patients with ACS have transient impairment in cognitive functions. Acute coronary syndrome is not associated with structural changes in the brain.
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OBJECTIVE: The investigations related to how gut microbiota changes the brain-gut axis in idiopathic Parkinson's disease (PD) attract growing interest. We aimed to determine whether gut microbiota is altered in PD patients and whether non-motor symptoms of PD and disease duration had any relation with alterations of microbiota profiles among patients. METHODS: Microbial taxa in stool samples obtained from 84 subjects (42-PD patients and 42-healthy spouses) were analyzed using 16S rRNA amplicon-sequencing. RESULTS: We observed a significant decrease of Firmicutes and a significant increase of Verrucomicrobiota at the phylum level. At the family level, Lactobacillaceae and Akkermansiaceae were significantly increased and Coriobacteriales Incertae Sedis were significantly decreased in the PD patients compared to their healthy spouses. Genus level comparison inferred significant increase in abundance only in Lactobacillus while the abundance of Lachnospiraceae ND3007 group, Tyzzerella, Fusicatenibacter, Eubacterium hallii group and Ruminococcus gauvreauii group were all decreased. We determined that the abundance of Prevotella genus decreased, but not significantly in PD patients. In addition, we found differences in microbiota composition between patients with and without non-motor symptoms. CONCLUSION: We observed differences in gut microbiota composition between PD patients and their healthy spouses. Our findings suggest that disease duration influenced microbiota composition, which in turn influenced development of non-motor symptoms in PD. This study is the first in terms of both gut microbiota research in Turkish PD patients and the probable effect of microbiota on non-motor symptoms of PD.
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Microbioma Gastrointestinal , Doença de Parkinson , Humanos , Microbioma Gastrointestinal/genética , Estudos de Casos e Controles , RNA Ribossômico 16S/genéticaRESUMO
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
OBJECTIVE: A rare variant in TREM2 (p.R47H, rs75932628) has been consistently reported to increase the risk for Alzheimer disease (AD), while mixed evidence has been reported for association of the variant with other neurodegenerative diseases. Here, we investigated the frequency of the R47H variant in a diverse and well-characterized multicenter neurodegenerative disease cohort. METHODS: We examined the frequency of the R47H variant in a diverse neurodegenerative disease cohort, including a total of 3058 patients clinically diagnosed with AD, frontotemporal dementia spectrum syndromes, mild cognitive impairment, progressive supranuclear palsy syndrome, corticobasal syndrome, or amyotrophic lateral sclerosis and 5089 control subjects. RESULTS: We observed a significant association between the R47H variant and AD, while no association was observed with any other neurodegenerative disease included in this study. CONCLUSIONS: Our results support the consensus that the R47H variant is significantly associated with AD. However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases.
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Predisposição Genética para Doença , Variação Genética , Genótipo , Glicoproteínas de Membrana/genética , Doenças Neurodegenerativas/genética , Receptores Imunológicos/genética , Idoso , Doença de Alzheimer/genética , Esclerose Lateral Amiotrófica/genética , Disfunção Cognitiva/genética , Estudos de Coortes , Feminino , Demência Frontotemporal/genética , Humanos , Internacionalidade , MasculinoRESUMO
Sirtuins have gained considerable attention as epigenetic regulators for slowing aging and age-related disorders. The growing association between neurodegeneration and inflammation has led researchers to investigate interactions of sirtuins with inflammatory markers in neurodegenerative diseases. We analyzed SIRT1's association with chronic inflammation in dementia as an age-related neurodegenerative condition through Toll-like receptor 4 (TLR4) and interleukin-7 (IL7) for the first time. In the present study, we observed a significant increase in the level of SIRT1 in patients with all types of dementia. Interestingly, the level of TLR4 protein was significantly lower in only the patients with Alzheimer's disease (AD) compared to the healthy elderly subjects. There was no significant change in the level of IL7 between the diseased and healthy elderly subjects. A significant positive correlation between SIRT1 level and age in healthy elderly subjects was evident according to Pearson's correlation test. However, this correlation was not observed in the dementia patients. Furthermore, the positive correlation between the levels of IL7 and TLR4 in the healthy elderly subjects was absent in the dementia patients. However, there was no direct association between the examined single nucleotide polymorphisms (SNPs) and dementia at the molecular level. According to logistic regression analysis, dementia risk increases 1.16 times due to an increase in the SIRT1 level and 24.23 times due to a decrease in the TLR4 level. Interestingly, a high level in the total antioxidant status (TAS) increases the risk of dementia approximately 33.32 times. Therefore, the current study, for the first time, provides a much better molecular understanding of the interaction between decreasing TLR4 levels and increasing SIRT1 levels in dementia, especially in AD. Furthermore, it highlights the importance of epigenetics in several age-related diseases and suggests that developing novel therapies to prevent or slow down the progression of dementia may support healthy aging.
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Doença de Alzheimer/sangue , Doença de Alzheimer/diagnóstico , Interleucina-7/sangue , Sirtuína 1/sangue , Receptor 4 Toll-Like/sangue , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/genética , Biomarcadores/sangue , Estudos de Casos e Controles , Epigênese Genética , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo ÚnicoRESUMO
INTRODUCTION: This study aimed to evaluate motor and non-motor symptoms in idiopathic Parkinson's disease (IPD) patients and to determine the self-reported influence of all existing symptoms on their quality of life (QoL). METHODS: The sociodemographic and clinical characteristics, medical treatments, and Modified Hoehn and Yahr (mH&Y) scores of IPD patients without cognitive impairment were recorded. A survey questioning different motor and non-motor symptoms was administered to the patients. The patients were asked to rate their symptoms by number from the greatest influence to the least influence on their QoL. Subjects were divided into two groups: those suffering from IPD for ≤5 years (Group 1) and those suffering from IPD for >5 years (Group 2). These groups were compared in terms of sociodemographic and clinical characteristics, existing symptoms, and influences of these symptoms on their QoL. RESULTS: There were 63 patients in Group 1 and 37 patients in Group 2. No statistically significant differences were detected between the groups with respect to sociodemographic characteristics or mH&Y scores. The most common motor symptoms in both of these groups were tremor and bradykinesia; meanwhile, the non-motor symptoms most frequently encountered in these groups were pain-cramps, constipation, and excessive daytime sleepiness (EDS). Again, while the symptoms that most greatly disturbed QoL in all patients were reported to be tremor and bradykinesia, the most disturbing non-motor symptom was frequent voiding/incontinence, which was a less common symptom. Pain-cramp, constipation, and EDS, which were the most frequent non-motor symptoms, were the symptoms that least disturbed QoL. CONCLUSION: It is widely accepted that motor symptoms determine QoL in IPD. However, non-motor symptoms are seen during all phases of the disease. The impact of non-motor symptoms on the QoL of IPD patients remains substantial. Therefore, in addition to the well-known motor symptoms, non-motor symptoms, which may be overlooked during physical examination yet may profoundly impact QoL, should be questioned and treated appropriately to improve QoL in PD patients as much as possible.
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OBJECTIVE: To investigate the validity and reliability of modified Mini Mental State Examination (MMSE-E) for illiterate patients in a Turkish population with Alzheimer's disease (AD). METHOD: A total of 107 illiterate patients with Alzheimer's Disease (women: 65, men: 42) and 68 illiterate healthy volunteer subjects (women: 36, men: 32) were included in the study. MMSE-I and Geriatrics Depression Scale were performed on all subjects, Alzheimer patients were also administered Basic Activities of Daily Living (B- ADL). Clinical Dementia Rating (CDR) was used to determine the severity of disease, while a receiver operating characteristic (ROC) analysis was performed to analyze the cut-off scores of MMSE-I, and the positive/negative predictive values that were calculated for the optimal cut-off scores. Internal consistency was measured using Cronbach's coefï¬cient ï¡. Additionally, correlations between total MMSE-I score and the CDR, B-ADL, and GDS scores were examined. RESULTS: The MMSE-I scores signiï¬cantly and inversely correlated with CDR (-0.82, p=0.000) and B-ADL scores (-0.051, p=0.000). The optimal cut-off points of MMSE-I were 23/24, which yielded a sensitivity of 99.0% - %100.0, a specificity of 98.5% - 97.0%, and an AUC of 1.0/1.0, respectively. Reliability of the MMSE-I was high α = 0.70). CONCLUSION: The total MMSE-I score was able to differentiate the AD group from the control group.
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Doença de Alzheimer/psicologia , Alfabetização , Testes Neuropsicológicos , Idoso , Feminino , Serviços de Saúde para Idosos , Humanos , Masculino , Valor Preditivo dos TestesRESUMO
Patients with an overlap of the pharyngeal-cervical-brachial variant of Guillain-Barré syndrome and Miller Fisher syndrome (PCB/MFS) have rarely been reported. The electrophysiological findings in PCB/MFS are of great interest and may provide insight into the pathophysiology of the disorder. We report the clinical features and nerve conduction study findings in a patient with PCB/MFS with high titers of antiganglioside antibodies against GQ1b, GD1a, and GD1b. In serial nerve conduction studies, compound muscle action potential amplitudes normalised without development of temporal dispersion within 3 weeks, and absent median, ulnar, and sural sensory nerve action potentials became recordable within 4 months. These findings are consistent with reversible conduction failure in both motor and sensory fibres, and PCB/MFS could be classified in the recently described nodo-paranodopathy spectrum of acute neuropathies associated with anti-ganglioside antibodies.
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Síndrome de Guillain-Barré/fisiopatologia , Síndrome de Miller Fisher/fisiopatologia , Condução Nervosa/fisiologia , Potenciais de Ação/fisiologia , Idoso de 80 Anos ou mais , Plexo Braquial/fisiopatologia , Feminino , Humanos , Músculos Faríngeos/fisiopatologiaRESUMO
Subacute combined degeneration (SCD) is a rare neurological complication of vitamin B12 deficiency, characterized by demyelination of the dorsal and lateral spinal cord. Herein, we describe three cases, who presented with SCD, one related to reduced intake of vitamin B12 because of a vegetarian diet and two related to nitrous oxide exposure during surgery. MR images of our patients revealed symmetrical hyperintense signals in dorsal and lateral columns in T2 weighted series. After treatment with intramuscular B12 injections (1 mg daily for 2 weeks, once weekly thereafter for three months) all patients showed improvement of their symptoms. Abnormalities of the spinal cord on MRI resolved in three months. In conclusion, SCD either due to nitrous oxide exposure or due to reduced intake of vitamin B12 is a reversible condition, when detected and treated early.
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OBJECTIVE: We designed this study, to evaluate the interaction (relation) between vitamin B12 and folic acid levels and length of hospital stay in elderly inpatients. METHODS: In this cross-sectional study, the Mini Nutritional Assessment-Short Form (MNA-SF) test was used to evaluate nutritional status of 615 (239 men, 376 female; mean age 72.89 ± 8.93 y) inpatients of a university hospital. Length of stay and blood samples in elderly inpatients were evaluated. RESULTS: Only 33.8% of the patients were classified as having an adequate nutritional status; 44.3% had a risk of malnutrition, and 21.8% were classified as malnourished. Low MNA-SF score was related to length of stay, but vitamin B12 and folic acid were not related to risk of malnutrition and length of stay. CONCLUSION: MNA-SF score is associated with length of stay; however, vitamin B12 level, per se, is not associated with length of hospital stay in elderly inpatients.
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Ácido Fólico/sangue , Tempo de Internação , Desnutrição/epidemiologia , Estado Nutricional , Vitamina B 12/sangue , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Avaliação Geriátrica , Humanos , Masculino , Desnutrição/sangue , Desnutrição/etiologia , Pessoa de Meia-Idade , Avaliação Nutricional , PrevalênciaRESUMO
BACKGROUND: The aim was to develop a brief screening battery, Cognitive State Test (COST), for detecting the presence of dementia in both illiterate and literate patients and to assess its validity and reliability. METHODS: COST is a cognitive screening tool that consists of almost all cognitive domains. It takes 5-7 minutes to administer, and has a maximum score of 30. Data were obtained from 114 healthy volunteers and 74 Alzheimer dementia (AD) patients. Subjects' age divided into two groups: A1: <65 years; and A2: ≥65 years and their education level divided into three groups: E1: illiterate; E2: 1-5 years; and E3: ≥6 years. For assessing concurrent validity, total COST score was compared to the Clinical Dementia Rating (CDR), the Mini Mental State Examination (MMSE), the Montreal Cognitive Assessment (MoCA), and Basic Activities of Daily Living (BADL). Sensitivity and specificity were determined through a discriminant analysis using the Receiver Operating Characteristic (ROC) curves. Internal consistency was measured using Cronbach's coefficient α. RESULTS: For normal and AD subjects, mean age was 64.9±9.8 years (50 women and 64 men) and 67.2±13.2 years (55 women and 19 men), respectively. Schooling ranged from 0-15 years (mean 5.7±4.2 and 3.3±3.8 years, respectively), and 21 and 37 subjects were illiterate, respectively. The COST significantly and positively correlated with MMSE and MoCA, and significantly and inversely correlated with CDR, the Geriatric Depression Scale (GDS), and BADL. In the E1, E2, and E3 education groups, the optimal cut-off points of COST chosen for diagnosis of AD were 23/24 (sensitivity: 81%, specificity: 99%), 24/25 (sensitivity: 75%, specificity: 86%), and 26/27 (sensitivity: 77%, specificity: 84%), respectively. When illiterate and literate subjects were then pooled, the optimal cut-off score of COST was 24/25, which yielded a sensitivity of 81% and a specificity of 87%. Reliability of the COST was good (0.86). CONCLUSION: The COST is a valid and reliable screening battery for detection of dementia both in the illiterate and the literate Alzheimer patients.
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Transtornos Cognitivos/diagnóstico , Demência/diagnóstico , Escolaridade , Inquéritos e Questionários , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Transtornos Cognitivos/psicologia , Demência/psicologia , Feminino , Avaliação Geriátrica/estatística & dados numéricos , Humanos , Masculino , Memória , Pessoa de Meia-Idade , Testes Neuropsicológicos/estatística & dados numéricos , Psicometria , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
PURPOSE: Restless leg syndrome (RLS) and periodic limb movements (PLMS) are common neurological diseases often associated with insomnia. A familial aggregation in RLS has been identified since it was first described; however, inheritance patterns of RLS/PLMS are poorly understood and their exact pathophysiology is not well-known. We have identified a Turkish pedigree with RLS/PLMS, which is a rare condition, in five generations of a family, including nine affected family members. METHODS: A detailed clinical evaluation of the family was conducted with the help of polysomnographic recording, electrophysiological findings, and biochemical parameters. RESULTS: The proband is a 38-year-old male member of the family who first started to show symptoms at the age of 29. All the patients from this family have been diagnosed with RLS, according to the criteria of the International RLS Study Group. Disease onset was early in all cases and even earlier in the younger generation. Three affected individuals also had PLMS on polysomnographic recordings. CONCLUSION: To our knowledge, this is the first Turkish family in which nine individuals in five generations are affected. We suggest an important effect of anticipation and genetic impact of the diseases and describe specific clinical features. Further investigation of clinical, genetic, and biochemical similarities between PLMS and RLS may yield important clues, adding to our understanding of the pathophysiology of these common diseases.
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Síndrome da Mioclonia Noturna/diagnóstico , Síndrome da Mioclonia Noturna/genética , Polissonografia , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/genética , Adulto , Idoso , Consanguinidade , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Linhagem , Fenótipo , Distúrbios do Início e da Manutenção do Sono/diagnóstico , Distúrbios do Início e da Manutenção do Sono/genética , Fases do SonoRESUMO
To emphasize the importance of clinical and ultrastructural findings for diagnosing adult neuronal ceroid lipofuscinosis (ANCL), the authors retrospectively reviewed six patients with biopsy-proven ANCL. In all cases, ophthalmologic examinations were normal, and electron microscopic studies demonstrated characteristic granular osmiophilic deposits within the eccrine epithelial cells. The inheritance and mechanism of ANCL remain unknown, and the diagnosis is based on clinical features and ultrastructural examination of the cerebral tissue or extracerebral accumulation of lipopigments. This study suggests that ANCL should be considered as a possible diagnosis in patients with early-onset dementia.
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Encéfalo/patologia , Demência/diagnóstico , Lipofuscinoses Ceroides Neuronais/diagnóstico , Adulto , Demência/patologia , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Lipofuscinoses Ceroides Neuronais/patologia , Estudos RetrospectivosRESUMO
A 79-year-old female presented with five months history of progressive involuntary twitching movement on left face. Brain MR imaging revealed a heterogeneous T2 hyperintense lesion at left cerebellopontine angle. CT angiography showed a partially thrombosed saccular aneurysm of left PICA (posterior inferior cerebellar artery). The patient was treated with Botulinum toxin type A and almost total relief of symptoms was noticed during one month followup. Botulinium toxin injection is an effective symptomatic treatment option in nonsurgical secondary hemifacial spasm (HFS) cases.
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We describe a patient with idiopathic restless legs syndrome (iRLS) who was responsive to rasagiline treatment. A 70-year-old woman presented with an 8-year history of iRLS symptoms and a 1-year history of resting tremor. The patient met the UK Parkinson's Disease Society Brain Bank Clinical Diagnostic Criteria (UK Parkinson Disease [PD] Brain Bank criteria) for the diagnosis of idiopathic PD and the criteria of the International Restless Legs Syndrome Study Group for the diagnosis of iRLS. One milligram of rasagiline once daily was started with the diagnosis of early PD as monotherapy. At week 8, the patient was almost iRLS symptoms free. Rasagiline has also been shown to mildly improve PD symptoms. Rasagiline was well tolerated during the follow-up. We suggest that rasagiline could represent a useful therapeutic option in the treatment of iRLS.