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1.
Sisli Etfal Hastan Tip Bul ; 58(3): 381-388, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39411036

RESUMO

Objectives: Cognitive impairment is a prevalent non-motor symptom of Parkinson's disease (PD), significantly impacting patient quality of life. The Clock Drawing Test (CDT) evaluates cognitive abilities, including planning, organization, and executive functions such as attention, memory, and visuospatial skills. This study aimed to determine the sensitivity of the CDT in diagnosing cognitive impairment in PD. Methods: We reviewed the records of 44 PD patients (16 female, 28 male) diagnosed with dementia (30 patients) or mild cognitive impairment (14 patients) between 2018 and 2022. These patients were compared to 106 visitors to the neurological outpatient clinic, serving as a control group. A separate researcher assessed the patients' CDT scores, maintaining confidentiality of all other patient data except age and education level. Results: Among the 44 PD patients, two with mild cognitive impairment were rated as normal, while all PD dementia cases were identified solely through the CDT. In the healthy control group, 72 out of 106 individuals reported no cognitive complaints, whereas 34 individuals (32.1%) reported cognitive complaints as assessed by a blind investigator. The CDT demonstrated a positive predictive value of 55.3% and a negative predictive value of 97.3%. Sensitivity was calculated at 95.5%, and specificity was 67.9%. Conclusion: The findings suggest that the CDT is sensitive in detecting cognitive impairment in PD patients with cognitive deficits. While the CDT serves as an effective rapid screening tool, high scores indicate the absence of cognitive impairment, but low scores alone are insufficient for a definitive diagnosis of dementia. Comprehensive neurological evaluation and detailed cognitive assessment remain essential for confirming dementia diagnoses.

2.
Medicine (Baltimore) ; 103(12): e37538, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38518035

RESUMO

In the elderly population, Parkinson's Disease (PD) is the second most common neurodegenerative disorder and is associated with morphological changes in the basal ganglia, especially the substantia nigra (SN). This study aimed to evaluate the volume and signal intensity (SI) of SN using Magnetic Resonance Imaging (MRI) to detect structural changes and investigate the relationship between the onset side and disease severity of PD. Clinical features and imaging data of 58 patients with PD were retrospectively analyzed from their medical records. Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences of 3 Tesla (T) MRIs were used for the measurements. The right and left SN volumes and SI measurements were calculated in duplicate by 2 blinded and qualified neuroradiologists. The side of disease onset, disease duration, levodopa equivalent daily dose, Movement Disorder Society-sponsored Unified Parkinson Disease Rating Scale (MDS-UPDRS III) motor score, and modified Hoehn and Yahr (H&Y) scale scores were recorded and compared with SN volume and SI measurements. No statistically significant difference was found between the disease onset side and contralateral SN volume or SI measurements (P > .05). Despite high inter- and intra-rater reliability rates, there was no significant difference in the volume and SI of the contralateral SN according to H&Y stages (P > .05). Furthermore, SN volume and SI measurements were not significantly correlated with disease duration and MDS-UPDRS III motor score (P > .05). SN volume and SI values measured using axial FLAIR 3T MRI are not correlated with the side of onset or disease severity in PD. New imaging methods are required to detect preclinical or early-stage PD.


Assuntos
Doença de Parkinson , Humanos , Idoso , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/patologia , Estudos Retrospectivos , Reprodutibilidade dos Testes , Imageamento por Ressonância Magnética , Substância Negra/diagnóstico por imagem
3.
BMC Med Genomics ; 16(1): 98, 2023 05 09.
Artigo em Inglês | MEDLINE | ID: mdl-37161390

RESUMO

BACKGROUND: Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism. CASE PRESENTATION: Here we report a novel homozygous frameshift mutation in RNF216 gene c.1860_1861dupCT (p.Cys621SerfsTer56) in a patient with hypogonadotropic hypogonadism, ataxia, and cognitive decline diagnosed with GHS also co-occurrence of parkinsonism and dystonia which was not reported before. CONCLUSIONS: We report an extremely rare case of GHS. The core features of GHS are well defined, but genotype-phenotype correlations are still limited. To understand the pathophysiology of different phenotypes, the type and localization of novel mutations need to be defined, and the effect of these different variants on clinical features needs to be determined. Further studies should explain the factors of phenotypic variability present in GHS patients with RNF216 mutations.


Assuntos
Ataxia Cerebelar , Síndrome de Klinefelter , Humanos , Ataxia Cerebelar/genética , Ataxia , Mutação , Ubiquitina-Proteína Ligases/genética
4.
Dement. neuropsychol ; 16(3): 309-315, July-Sept. 2022. tab
Artigo em Inglês | LILACS | ID: biblio-1404474

RESUMO

ABSTRACT. Patients with Parkinson's disease (PwP) have face recognition difficulties. Objective: This study aimed to evaluate the difficulties of PwP in recognizing masked faces during the COVID-19 pandemic. Methods: A total of 64 PwP, 58 age-matched older healthy controls (OHCs), and 61 younger healthy controls (YHCs) were included in the study. The Benton Face Recognition Test - short form (BFRT-sf) and the 13-item questionnaire on face recognition difficulties due to masks during the pandemic developed by the authors were applied to all three study groups. Results: Both the PwP and OHC groups scored worse in BFRT-sf when compared with the YHC group (p<0.001 and p<0.001, respectively). The number of those who had difficulty in recognizing people seen every day and the number of those who asked people to remove their masks because they did not recognize them were higher in the PWP group (p=0.026 and p=0.002, respectively). The number of individuals who looked at the posture and gait of people when they did not recognize their masked faces and those who stated that this difficulty affected their daily lives were higher in the OHC group (p=0.002 and p=0.009, respectively). The number of participants whose difficulty in recognizing masked faces decreased over time was higher in the YHC group (p=0.003). Conclusions: The PwP group demonstrated similar performance to their peers but differed from the YHC group in recognizing masked faces. Knowing difficulties experienced by elderly people in recognizing people who are masked can increase awareness on this issue and enhance their social interaction in pandemic conditions through measures to be taken.


RESUMO. Pacientes com doença de Parkinson (PcP) têm dificuldades de reconhecimento facial. Objetivo: Avaliamos as dificuldades de PcP em reconhecer rostos mascarados durante a pandemia de COVID-19. Métodos: Incluímos 64 PcP, 58 controles saudáveis ​​mais velhos (CSVs) pareados por idade, 61 controles saudáveis mais jovens (CSJs) no estudo. O Benton Face Recognition Test-short form (BFRT-sf) e o questionário de 13 itens sobre dificuldades de reconhecimento facial devido a máscaras durante a pandemia desenvolvido pelos autores foram aplicados a todos os três grupos de estudo. Resultados: Ambos os grupos PcP e CSV tiveram pior pontuação no BFRT-sf quando comparados com o grupo CSJ (p<0,001 e p<0,001, respectivamente). O número daqueles que tiveram dificuldade em reconhecer as pessoas atendidas todos os dias e o número daqueles que pediram para as pessoas retirarem suas máscaras por não as reconhecer foram maiores no grupo PcP (p=0,026 e p=0,002, respectivamente). O número de indivíduos que olharam para a postura e marcha das pessoas quando não reconheceram seus rostos mascarados e aqueles que afirmaram que essa dificuldade afetou seu cotidiano foi maior no grupo CSV (p=0,002 e p=0,009, respectivamente). O número de participantes cuja dificuldade em reconhecer rostos mascarados diminuiu ao longo do tempo foi maior no grupo CSJ (p=0,003). Conclusões: O grupo PcP demonstrou desempenho semelhante aos seus pares, mas diferiu do grupo CSJ no reconhecimento de rostos mascarados. Conhecer as dificuldades vivenciadas pelos idosos em reconhecer as pessoas mascaradas pode aumentar a conscientização sobre essa questão e potencializar sua interação social em condições de pandemia por meio de medidas a serem tomadas.


Assuntos
Humanos , Doença de Parkinson , Isolamento Social , SARS-CoV-2 , COVID-19
5.
Noro Psikiyatr Ars ; 59(1): 33-37, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35317509

RESUMO

Introduction: The aim of this study was to form the Turkish adaptation of the SCOPA-SleepScale to be used in evaluating sleep quality in individuals with Parkinson's disease and to test its psychometric properties. Method: Data for this methodological study was collected between May and December 2017 in the neurology outpatient clinic of a hospital through face to face interviews with patients with a diagnosis of Parkinson's disease. The sample of the study consisted of 105 patients of 18 years of age and above with no additional neurological diseases who volunteered for the study. The SCOPA Sleep Scale was translated into Turkish through translation and back translation, and expert views were taken to test content validity. The reliability analyses of the scale were performed using item- total score correlations, test-retest correlations, and internal consistency. Exploratory factor analyses were conducted for construct validity and the Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS) were applied for criterion validity. The appropriateness of data for factor analysis was examined using the Kaiser-Meyer-Olkin (KMO) and Bartlett's tests. Results: The factor loads of the SCOPA Sleep Scale varied between 0.743 and 0.901, and the Turkish version of the scale exhibited a two factor structure in compliance with the original scale. The Cronbach`s alpha coefficient was found 0.907 for the nighttime sleep sub-dimension and 0.906 for the daytime sleepiness sub-dimension. In the test-retest evaluation, a correlation of 0.948 was obtained in the nighttime sleep sub-dimension of the scale and a correlation of 0.956 was obtainedin the daytime sleepiness sub-dimension of the scale. The nighttime sleep sub-dimension of the scale showed a positive correlation with PSQI, while the daytime sleepiness sub-dimension showed a positive correlation with ESS. Conclusion: The Turkish form of the SCOPA Sleep Scale is a valid and reliable tool to evaluate the sleep quality of individuals with Parkinson's disease.

6.
Dement Neuropsychol ; 16(3): 309-315, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36619841

RESUMO

Patients with Parkinson's disease (PwP) have face recognition difficulties. Objective: This study aimed to evaluate the difficulties of PwP in recognizing masked faces during the COVID-19 pandemic. Methods: A total of 64 PwP, 58 age-matched older healthy controls (OHCs), and 61 younger healthy controls (YHCs) were included in the study. The Benton Face Recognition Test - short form (BFRT-sf) and the 13-item questionnaire on face recognition difficulties due to masks during the pandemic developed by the authors were applied to all three study groups. Results: Both the PwP and OHC groups scored worse in BFRT-sf when compared with the YHC group (p<0.001 and p<0.001, respectively). The number of those who had difficulty in recognizing people seen every day and the number of those who asked people to remove their masks because they did not recognize them were higher in the PWP group (p=0.026 and p=0.002, respectively). The number of individuals who looked at the posture and gait of people when they did not recognize their masked faces and those who stated that this difficulty affected their daily lives were higher in the OHC group (p=0.002 and p=0.009, respectively). The number of participants whose difficulty in recognizing masked faces decreased over time was higher in the YHC group (p=0.003). Conclusions: The PwP group demonstrated similar performance to their peers but differed from the YHC group in recognizing masked faces. Knowing difficulties experienced by elderly people in recognizing people who are masked can increase awareness on this issue and enhance their social interaction in pandemic conditions through measures to be taken.


Pacientes com doença de Parkinson (PcP) têm dificuldades de reconhecimento facial. Objetivo: Avaliamos as dificuldades de PcP em reconhecer rostos mascarados durante a pandemia de COVID-19. Métodos: Incluímos 64 PcP, 58 controles saudáveis ​​mais velhos (CSVs) pareados por idade, 61 controles saudáveis mais jovens (CSJs) no estudo. O Benton Face Recognition Test-short form (BFRT-sf) e o questionário de 13 itens sobre dificuldades de reconhecimento facial devido a máscaras durante a pandemia desenvolvido pelos autores foram aplicados a todos os três grupos de estudo. Resultados: Ambos os grupos PcP e CSV tiveram pior pontuação no BFRT-sf quando comparados com o grupo CSJ (p<0,001 e p<0,001, respectivamente). O número daqueles que tiveram dificuldade em reconhecer as pessoas atendidas todos os dias e o número daqueles que pediram para as pessoas retirarem suas máscaras por não as reconhecer foram maiores no grupo PcP (p=0,026 e p=0,002, respectivamente). O número de indivíduos que olharam para a postura e marcha das pessoas quando não reconheceram seus rostos mascarados e aqueles que afirmaram que essa dificuldade afetou seu cotidiano foi maior no grupo CSV (p=0,002 e p=0,009, respectivamente). O número de participantes cuja dificuldade em reconhecer rostos mascarados diminuiu ao longo do tempo foi maior no grupo CSJ (p=0,003). Conclusões: O grupo PcP demonstrou desempenho semelhante aos seus pares, mas diferiu do grupo CSJ no reconhecimento de rostos mascarados. Conhecer as dificuldades vivenciadas pelos idosos em reconhecer as pessoas mascaradas pode aumentar a conscientização sobre essa questão e potencializar sua interação social em condições de pandemia por meio de medidas a serem tomadas.

7.
Metab Brain Dis ; 36(6): 1201-1211, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33704661

RESUMO

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Three patients (27%) had neonatal cholestasis, seven (63%) patients had a history of frequent watery defecation started in infantile period, and eight (72.7%) patients had juvenile cataract. Four patients in the adult age group had pyramidal signs and parkinsonism symptoms. The mean Mignarri score at diagnosis was significantly lower in the pediatric patients (267.8 ± 51.4) than in the adult patients (450.0 ± 64.0, p = 0.001). No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). The frequency of defecation decreased with treatment in six children, who had diarrhea at admission. Compared to pretreatment values, patients' body weight and standardized body mass index significantly increased at the 12th month of treatment. In conclusion, Mignarri scores are lower in the pediatric patients than in adult patients since the most determinative signs of the CTX disease are not apparent yet in the childhood. The disease is frequently overlooked in routine practice as the disease presents itself with different clinical combinations both in adults and in children. CTX is potentially a treatable disease; thereby, enhanced awareness is critically important for early diagnosis particularly in children.


Assuntos
Ácido Quenodesoxicólico/farmacologia , Colestanol/sangue , Diagnóstico Precoce , Xantomatose Cerebrotendinosa/complicações , Xantomatose Cerebrotendinosa/fisiopatologia , Adolescente , Adulto , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Xantomatose Cerebrotendinosa/diagnóstico
9.
Am J Alzheimers Dis Other Demen ; 36: 1533317520982208, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33461309

RESUMO

INTRODUCTION: This study compared the Turkish version of Test Your Memory (TYM) MMSE (Mini-Mental State Examination) and CDT (Clock Drawing Test) in patients with neurocognitive disorder. METHODS: After a thorough medical workup, patients with a diagnosis of neurocognitive disorder were enrolled. A cross-sectional design was used to compare the TYM results with those of MMSE and CDT. RESULTS: This study was conducted on 100 patients, including 46 males and 54 females, aged 52 to 86. The majority of patients were diagnosed with vascular neurocognitive disorder. The z-score of TYM-TR was significantly lower in the domains of registration, recall, visuospatial, and total score. The same results were achieved when CDT was added to MMSE. The same pattern was observed separately for those who were diagnosed with a mild or major neurocognitive disorder. CONCLUSION: Patients' cognitive deficits might be more evident when measured by the TYM-TR compared to the MMSE.


Assuntos
Disfunção Cognitiva , Memória , Testes de Estado Mental e Demência , Idoso , Idoso de 80 Anos ou mais , Disfunção Cognitiva/diagnóstico , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
10.
Pediatr Emerg Care ; 37(9): e528-e533, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-32118836

RESUMO

OBJECTIVES: Metoclopramide is a commonly used medication in pediatric practice, and dystonia is a common adverse effect of it. The present study aims to evaluate the clinical characteristics of metoclopramide-induced acute dystonic reactions (MIADRs) in pediatric patients admitted to the pediatric emergency unit. METHODS: Twenty-eight patients were admitted with MIADRs between June 2004 and April 2016; they were enrolled into the study retrospectively. RESULTS: The study group was composed of 13 females and 15 males with the mean ± SD age of the females higher than that of the males, 12.3 ± 4.5 and 7.8 ± 4.3 years, respectively. Only 9 (32.1%) of the patients were diagnosed as MIADRs at the time of admission. Seventeen patients (60.7%) received over the recommended daily dose of metoclopramide. Dystonia was focal in most of the patients, with the most affected parts consisting of the neck, eyes, and orolingual regions. In 9 of the patients, the dystonia was episodic in nature. Pharmacological treatment was used for 18 patients. No patients died, and none suffered long-term injury related to MIADRs. CONCLUSIONS: Metoclopramide administration may be associated with the occurrence of acute dystonic reaction. Metoclopramide-induced acute dystonic reactions may be misdiagnosed, so detailed medical history gathering and a high index of suspicion are warranted. Our data suggest that MIADRs may be dose related and that there may be age- and sex-related differences in the epidemiology of MIADRs.


Assuntos
Distonia , Distúrbios Distônicos , Adolescente , Criança , Distonia/induzido quimicamente , Distonia/diagnóstico , Serviço Hospitalar de Emergência , Feminino , Humanos , Masculino , Metoclopramida/efeitos adversos , Estudos Retrospectivos
11.
Balkan Med J ; 37(1): 24-28, 2019 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-31594283

RESUMO

Background: Pathological yawning is a compulsive, frequent, repetitive yawning triggered by a specific reason besides fatigue or boredom. It may be related to iatrogenic, neurologic, psychiatric, gastrointestinal, or metabolic disorders. Moreover, it could also be seen in the course of an ischemic stroke. Aims: To determine whether pathological yawning is a prognostic marker of middle cerebral artery stroke and evaluate its relationship with the infarct location. Study Design: Cross-sectional study. Methods: We examined 161 patients with acute middle cerebral artery stroke, consecutively admitted to emergency department. Demographic information, stroke risk factors, stroke type according to Trial of Org 10172 in Acute Stroke Treatment classification, blood oxygen saturation, body temperature, blood pressure, heart rate, glucose levels, daytime of stroke onset, National Institutes of Health Stroke Scale score (National Institutes of Health Stroke Scale score, at admission and 24 h), modified Rankin scale (at 3 months), and infarct locations were documented. Pathological yawning was defined as ≥3 yawns/15 min. All patients were observed for 6 hours to detect pathological yawning. National Institutes of Health Stroke Scale score >10 was determined as severe stroke. The correlation between the presence of pathological yawning and stroke severity, infarct location, and the short- and long-term outcomes of the patients were evaluated. Results: Sixty-nine (42.9%) patients had pathological yawning and 112 (69.6%) had cortical infarcts. Insular and opercular infarcts were detected in 65 (40.4%) and 54 (33.5%) patients, respectively. Pathological yawning was more frequently observed in patients with cortical, insular, and opercular infarcts (p<0.05). Pathological yawning was related to higher National Institutes of Health Stroke Scale scores. Patients with severe stroke (National Institutes of Health Stroke Scale score ≥10) presented with more pathological yawning than those with mild to moderate strokes (p<0.05). The clinical outcomes and mortality rates showed no significant relationship with the occurrence of pathological yawning. Conclusion: Pathological yawning in middle cerebral artery stroke was associated with stroke severity, presence of cortical involvement, and insular and opercular infarcts. However, no association was found with long-term outcome and mortality.


Assuntos
Infarto da Artéria Cerebral Média/classificação , Infarto da Artéria Cerebral Média/fisiopatologia , Prognóstico , Bocejo/fisiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Acidente Vascular Cerebral/classificação , Acidente Vascular Cerebral/fisiopatologia
13.
Mov Disord Clin Pract ; 5(1): 54-59, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30363359

RESUMO

BACKGROUND: Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and Unified Dyskinesia Rating Scale (UDysRS) were developed as standard tools to rate Parkinson's disease (PD) and drug-induced dyskinesias of PD. As these scales have become widely used, there is a need for translation to non-English languages. Here we present the standardization for the Turkish translations. METHODS: The scales were translated into Turkish and then back-translated to English. These back-translations were reviewed by the MDS team. After cognitive pretesting, movement disorder specialists from nine centers tested 352 patients for MDS-UPDRS, and 250 patients for UDysRS. Confirmatory factor analyses (CFAs) were used to determine if the factor structures for the reference standards could be confirmed in the Turkish data. The comparative fit indexes (CFIs) for the scales were required to be 0.90 or higher. Exploratory factor analyses (EFAs) were conducted to explore the underlying factor structure without the constraint of a pre-specified factor structure. RESULTS: For both scales, the CFIs were 0.94 or greater as compared to the reference standard factor structures. The factor structures were consistent with that of reference standards, although there were some differences in some areas as compared to the EFA of the reference standard dataset. This may be due to the inclusion of patients with different stages of PD and different cultural properties of raters and patients. CONCLUSIONS: These results demonstrate that the Turkish translations of MDS-UPDRS and UDysRS have adequate clinimetric properties. They are established as the official translations and can be reliably used in Turkish speaking populations.

14.
J Int Med Res ; 45(6): 2053-2064, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28661262

RESUMO

Objective This study was performed to assess the efficacy of memantine in patients with amnestic mild cognitive impairment (aMCI). Methods Thirty healthy controls and 45 patients diagnosed with aMCI based on the Petersen criteria were classified into 3 groups. Group 1 comprised patients who received a single memantine dose following examination (n = 25), Group 2 comprised patients who did not receive memantine treatment following examination (n = 20), and Group 3 comprised healthy age-matched volunteers (n = 30). Neuropsychological testing was performed, and the response to memantine was examined at baseline and at 12, 24, and 48 weeks. Single-photon emission computed tomography was performed at baseline and at 48 weeks in patients who received memantine treatment. Results Memantine treatment significantly improved the symptoms of aMCI according to the Wechsler Adult Intelligence Scale-Revised vocabulary subtest, backward digit span, and Blessed Dementia Rating Scale, all of which were recorded for the duration of the study. Conclusion These data indicate that patients with aMCI receiving memantine develop an improved semantic memory compared with no treatment. Further studies including larger patient cohorts are necessary to validate these findings.


Assuntos
Amnésia/tratamento farmacológico , Amnésia/fisiopatologia , Disfunção Cognitiva/tratamento farmacológico , Disfunção Cognitiva/fisiopatologia , Memantina/uso terapêutico , Memória , Semântica , Tomografia Computadorizada de Emissão de Fóton Único , Idoso , Amnésia/complicações , Disfunção Cognitiva/complicações , Demografia , Feminino , Humanos , Masculino , Memantina/farmacologia , Memória/efeitos dos fármacos , Pessoa de Meia-Idade , Testes Neuropsicológicos , Perfusão
15.
Neurosci Lett ; 594: 51-4, 2015 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-25817364

RESUMO

Parkinson's disease (PD) is a late-onset neurodegenerative disorder with both familial and sporadic presentation. The main pathological characteristic of PD is the death of dopaminergic neurons in the substantia nigra (SN) pars compacta. PD is the second most common neurodegenerative disease worldwide, after Alzheimer's disease. Recent studies have suggested increased levels of iron and iron-binding proteins in the brains of patients with PD. Divalent metal transporter 1 (DMT1) is one protein responsible for iron transport. Postmortem studies have shown an important increase in DMT1 levels in the SN of patients with PD. Our aim is to determine whether there is an association between DMT1 polymorphisms and PD. We analyzed two single nucleotide polymorphisms (1254T>C and IVS4+44C>A) in the DMT1 gene in patients with 97 Parkinson's disease and in 100 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). No association was found between the IVS4+44C>A polymorphism and PD, but the TT genotype and T allele of the 1254T>C polymorphism in the DMT1 gene were associated with PD (P=0.002 and P=0.012, respectively). In contrast to a previous study, our results suggest that the TT genotype and T allele of the 1254T>C polymorphism may be a risk factor for PD.


Assuntos
Proteínas de Transporte de Cátions/genética , Doença de Parkinson/genética , Idoso , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
16.
Adv Clin Exp Med ; 23(1): 91-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24596009

RESUMO

BACKGROUND: Alzheimer's disease (AD) is one of the most common degenerative neurological disorders among elderly people, and is associated with progressive cerebral atrophy. AD is characterized by deterioration of the memory, difficulties with language, alterations in behavior and dysfunction in daily activities. OBJECTIVES: The purpose of the present study was to measure the total volumes of different parts of the brain of AD patients and healthy gender-matched controls using Cavalieri's volume estimate method, and to establish some brain ratios. Moreover, the authors wanted to test this method in measuring the volumes of various parts of the brain from MRI scans. MATERIAL AND METHODS: In this study, the MRI scans of 15 right-handed individuals with probable AD and 10 healthy controls were assessed. Cavalieri's volume estimate method was applied to the brain MRI scans to calculate the volumes of various parts of the brain. RESULTS: While the measurements showed a marked increase in the volume of cerebral ventricles and sulci in AD patients in comparison to the gender-matched controls, the volumes of cortical gray matter and cerebral hemispheric brain matter were reduced considerably. However, no significant differences were detected in the volume of the cerebellum + brainstem or intracranium in AD patients. There were also no major variations between male and female values of the two groups. CONCLUSIONS: Overall, cerebral hemisphere and cortical gray matter atrophies were the most remarkable findings among AD patients in the present study; consequently, expansions of both the ventricles and subarachnoid space were formed. Cavalieri's volume estimate method was very efficient in calculating the volumes of different parts of brain from the MRI scans of both groups.


Assuntos
Doença de Alzheimer/patologia , Encéfalo/patologia , Imageamento por Ressonância Magnética/métodos , Idoso , Idoso de 80 Anos ou mais , Atrofia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
17.
Neuropsychiatr Dis Treat ; 9: 947-51, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23882142

RESUMO

Although ideomotor limb apraxia is considered to be a typical sign of cortical pathologies such as Alzheimer's disease (AD), it has been also reported in subcortical neurodegenerative diseases and vascular lesions. We aimed to investigate the difference between AD, subcortical vascular dementia (SVaD) and mild cognitive impairment (MCI) patients by means of ideomotor limb apraxia frequency and severity. Ninety-six AD, 72 SVaD, and 84 MCI patients were assessed with the mini-mental status examination (MMSe), clinical dementia rating (CDR) and the apraxia screening test of TULIA (AST). Apraxia was significantly more frequent in the AD patients (32.3%) than in both of the SVaD (16.7%) and MCI (4.8%) patients. The frequency of apraxia was also significantly higher in SVaD patients than in MCI patients. AD patients had significantly lower apraxia scores than both SVaD and MCI patients. In addition, a significant difference was found between SVaD and MCI patients in terms of apraxia scores. These results suggest that the widespread belief of the association between apraxia and cortical dementias is not exactly correct. The significant difference between both of the dementia groups and the MCI patients suggests that the absence of apraxia can be an indicator for MCI diagnosis.

18.
Pediatr Neurol ; 48(5): 415-7, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23583064

RESUMO

Palatal tremor is a rare movement disorder characterized by rhythmic movement of the soft palate. There are two subtypes: essential and symptomatic palatal tremor. Essential palatal tremor is characterized by tinnitus and an absence of other neurological deficits. Different treatment options have been used to treat palatal tremor, with varying success rates. Here we describe a patient with essential palatal tremor and who was treated with botulinum toxin injections.


Assuntos
Antidiscinéticos/uso terapêutico , Toxinas Botulínicas/uso terapêutico , Tremor Essencial/tratamento farmacológico , Tremor Essencial/fisiopatologia , Músculos Palatinos/fisiopatologia , Palato Mole/fisiopatologia , Anticonvulsivantes/uso terapêutico , Criança , Eletromiografia , Humanos , Masculino , Exame Neurológico , Zumbido/etiologia
19.
BMJ Case Rep ; 20132013 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-23345532

RESUMO

Marcus Gunn jaw winking synkinesis (MGJWS) is caused by congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. It has been observed in 2-13% of patients with congenital ptosis. Although bilateral cases were reported, most were unilateral and occurred more frequently on the left side than the right. We report two cases of children who presented with ptosis and were diagnosed with MGJWS.


Assuntos
Blefaroptose/diagnóstico , Blefaroptose/fisiopatologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/fisiopatologia , Anormalidades Maxilomandibulares/diagnóstico , Anormalidades Maxilomandibulares/fisiopatologia , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/fisiopatologia , Blefaroptose/congênito , Criança , Diagnóstico Diferencial , Pálpebras/fisiopatologia , Feminino , Humanos , Lactente , Doenças do Sistema Nervoso/congênito , Músculos Oculomotores/inervação , Nervo Oculomotor/anormalidades , Reflexo Anormal , Nervo Trigêmeo/anormalidades
20.
Neurochem Res ; 37(7): 1554-9, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22437436

RESUMO

Amyloid ß42 (Aß42) and proinflammatory cytokines such as interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α) have been suggested to contribute to the pathogenesis of Alzheimer's disease (AD) and vascular dementia (VaD). Our aim was to examine whether the changes in these parameters would be able to discriminate the patients with AD from those with VaD and from healthy individuals. We have analyzed the levels of Aß42, IL-6 and TNF-α in the serum of newly diagnosed 28 AD patients, 16 VaD patients and 26 healthy non-demented controls. We also investigated whether there is an association between Aß42, IL-6 and TNF-α levels and mini-mental state examination (MMSE) scores and body mass indexes (BMI) of patients. Our data showed a significant decrease in serum Aß-42 levels in AD patients compared to VaD patients and controls. Levels of IL-6 and TNF-α were not different between AD patients, VaD patients and controls. We observed a correlation between Aß-42 levels and MMSE scores and BMI levels in both AD and VaD patients. However, Aß-42 levels were not correlated with IL-6 and TNF-α levels. Significantly lower levels of Aß42 found in the serum of AD patients than that of VaD patients and controls suggests that it can be a specific biochemical marker for AD.


Assuntos
Doença de Alzheimer/metabolismo , Peptídeos beta-Amiloides/metabolismo , Demência Vascular/metabolismo , Interleucina-6/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
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