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4.
Medicine (Baltimore) ; 100(14): e25261, 2021 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-33832088

RESUMO

RATIONALE: Opsoclonus-myoclonus syndrome (OMS) is a rare immune-mediated movement disorder, mostly of paraneoplastic or idiopathic origin. The disease usually has an acute onset, serious course and leads rapidly to disability in adult patients. To the best of our knowledge, this is the fourth presented case of OMS with a severe course and complete reversibility of neurological symptoms in a pregnant woman. This report includes videos and a literature review. PATIENT CONCERNS: A 30-year-old woman in the 12th week of pregnancy developed severe nausea and vomiting, after several days balance and gait disorders appeared. On admission to hospital, neurological examination revealed opsoclonus, dysarthria, myoclonic jerks with ataxia of the trunk and limbs with inability to sit, stand or walk. DIAGNOSIS: Well-known causes of OMS were excluded. Although in our patient the idiopathic origin of the disorder was taken under consideration, diagnosis of opsoclonus-myoclonus related to the pregnancy was highly likely. INTERVENTIONS: After administration of steroids and benzodiazepines the patient improved. OUTCOMES: In the 6th month of pregnancy, after termination of immunotherapy, she recovered completely and was able to sit, stand and walk independently. In the 39th week of pregnancy, she delivered a healthy child. LESSONS: We confirm that understanding of clinical symptoms and rare causes of OMS contributes to early diagnosis and therapy, which ensures an optimal outcome. One probable cause of OMS could be a physiological change to immune system regulation during pregnancy. The relationship between OMS and pregnancy remains uncertain and needs further investigation.


Assuntos
Síndrome de Opsoclonia-Mioclonia/diagnóstico , Complicações na Gravidez/diagnóstico , Adulto , Anticonvulsivantes/administração & dosagem , Clonazepam/administração & dosagem , Feminino , Glucocorticoides/administração & dosagem , Humanos , Metilprednisolona/administração & dosagem , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Gravidez , Complicações na Gravidez/tratamento farmacológico
5.
Neurol Neurochir Pol ; 55(2): 186-194, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33528833

RESUMO

BACKGROUND: In 2008, the Movement Disorders Society published the Unified Dyskinesia Rating Scale (UDysRS). This has become the established tool for assessing the severity and disability associated with dyskinesia in patients with Parkinson's Disease (PD). We translated and validated the Polish version of the UDysRS, explored its dimensionality, and compared it to the Spanish version, which is the Reference Standard for UDysRS translations. MATERIAL AND METHODS: The UDysRS was translated into Polish by a team led by JS and GO. The back-translation, completed by colleagues fluent in both Polish and English who were not involved in the original translation, was reviewed and approved by the Executive Committee of the MDS Rating Scales Programme. Then the translated version of the UDysRS underwent cognitive pretesting, and the translation was modified based on the results. The approved version was considered to be the Official Working Document of the Polish UDysRS and was tested on 250 Polish PD patients recruited at movement disorder centres. Data was compared to the Reference Standard used for validating UDysRS translations. RESULTS: The overall factor structure of the Polish version was consistent with that of the Reference Standard version, as evidenced by the high Confirmatory Fit Index score (CFI = 0.98). The Polish UDysRS was thus confirmed to share a common factor structure with the Reference Standard. CONCLUSIONS: The Official Polish UDysRS translation is recommended for use in clinical and research settings. Worldwide use of uniform rating measures offers a common ground to study similarities and differences in disease manifestations and progression across cultures.


Assuntos
Discinesias , Doença de Parkinson , Discinesias/diagnóstico , Humanos , Doença de Parkinson/diagnóstico , Polônia , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Traduções
7.
Neurol Neurochir Pol ; 54(5): 416-425, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32639019

RESUMO

BACKGROUND: In 2008, the Movement Disorders Society (MDS) published a new Unified Parkinson's Disease Rating Scale (MDS-UPDRS) as the official benchmark scale for Parkinson's Disease (PD). We have translated and validated the Polish version of the MDS-UPDRS, explored its dimensionality, and compared it to the original English one. METHODS: The MDS-UPDRS was translated into Polish by a team of Polish investigators led by JS and GO. The back-translation was completed by colleagues fluent in both languages (Polish and English) who were not involved in the original translation, and was reviewed by members of the MDS Rating Scales Programme. Then the translated version of the MDS-UPDRS underwent cognitive pretesting, and the translation was modified based on the results. The final translation was approved as the Official Working Document of the MDS-UPDRS Polish version, and was tested on 355 Polish PD patients recruited at movement disorders centres all over Poland (at Katowice, Gdansk, Lódz, Warsaw, Wroclaw, and Kraków). Confirmatory and explanatory factor analyses were applied to determine whether the factor structure of the English version could be confirmed in the Polish version. RESULTS: The Polish version of the MDS-UPDRS showed satisfactory clinimetric properties. The internal consistency of the Polish version was satisfactory. In the confirmatory factor analysis, all four parts had greater than 0.90 comparative fit index (CFI) compared to the original English MDS-UPDRS. Explanatory factor analysis suggested that the Polish version differed from the English version only within an acceptable range. CONCLUSIONS AND CLINICAL IMPLICATIONS: The Polish version of the MDS-UPDRS meets the requirements to be designated as the Official Polish Version of the MDS-UPDRS, and is available on the MDS web page. We strongly recommend using the MDS-UPDRS instead of the UPDRS for research purposes and in everyday clinical practice.


Assuntos
Avaliação da Deficiência , Idioma , Humanos , Testes de Estado Mental e Demência , Polônia , Índice de Gravidade de Doença
8.
Front Neurosci ; 13: 992, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31611762

RESUMO

INTRODUCTION: Alpha-synucleinopathy constituting a characteristic feature of Parkinson's disease (PD) occurs at all levels of the brain-gut axis including the enteric nervous system (ENS). Lesions in the ENS may be connected with gut inflammation, increased intestinal permeability and dysmotility contributing to the pathogenesis of PD and its gastrointestinal manifestations. AIMS: To evaluate fecal calprotectin and zonulin as biomarkers of gut inflammation and intestinal barrier dysfunction in PD patients. METHODS: Quantitative evaluation of fecal biomarkers was performed by ELISA tests in 35 PD patients and 20 healthy controls. Additionally, patients filled out a short questionnaire concerning gastrointestinal symptoms. RESULTS: Median fecal calprotectin level (µg/g) was significantly higher in PD patients compared to the controls: 54.5 (29.0-137.9) vs. 9.7 (5.2-23.3), p < 0.0001. Applying age-related reference ranges, the increased fecal calprotectin level was found in 43% of PD patients and in none of the control subjects (p < 0.001). No correlation between fecal calprotectin level and PD duration was observed. No statistically significant difference between the groups regarding zonulin level was found. The most frequent bowel symptoms reported by PD patients included constipation (69% of subjects), feeling of incomplete evacuation (51%), bloating (51%), abdominal pain (20%), and alternating bowel movement pattern (17%). CONCLUSION: The evaluation of fecal calprotectin level may be a useful tool to detect the signs of gut immune system activation present in a remarkable number of PD patients, also in the early stage of the disease. Calprotectin may constitute a critical link between amyloid formation and neuroinflammatory cascades serving as a prospective diagnostic and therapeutic target.

9.
Adv Clin Exp Med ; 28(2): 193-198, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29963785

RESUMO

BACKGROUND: Parkinson's disease (PD) is one of the most common neurodegenerative disorders. Malnutrition is an essential problem in the late stage of PD. Lowering of body mass is seen in 30% of patients, and malnutrition or the risk of malnutrition in 24% and 60%, respectively. OBJECTIVES: The aim of the study was an analysis of the relationships between the parameters of the nutritional stage and the advancement of clinical symptoms in PD patients. MATERIAL AND METHODS: A total of 40 patients (18 men, 22 women) with PD were analyzed, mean age: 70.7 years. In all patients, structured anamnesis, Nutrition Risk Screening (NRS 2002), body mass index (BMI), morphology, and basic biochemical tests were conducted. Skin fold thickness was also measured. The results were referred to the score of different scales. RESULTS: The study showed a lot of correlations between the severity of PD, mostly motor symptoms in the Unified Parkinson's Disease Rating Scale (UPDRS), and parameters characterizing the patient's nutritional status. We revealed a correlation between malnutrition and PD duration, and l-DOPA frequency intake. The global score of parts I, II and III of UPDRS were correlated with the nutritional status. The results confirmed the existence of more severe smell change and taste impairment in the late stage of PD, with more pronounced malnutrition. CONCLUSIONS: The duration of PD, motor and non-motor PD symptoms, and the frequency of l-DOPA intake closely correlate with the nutritional status. Understanding of the multifactorial interdependence might be useful in the estimation of the algorithm for monitoring the nutritional status of PD patients and taking early nutritional intervention.


Assuntos
Antiparkinsonianos/administração & dosagem , Levodopa/administração & dosagem , Desnutrição/fisiopatologia , Estado Nutricional , Doença de Parkinson/tratamento farmacológico , Idoso , Antiparkinsonianos/efeitos adversos , Índice de Massa Corporal , Feminino , Humanos , Levodopa/efeitos adversos , Masculino , Desnutrição/complicações , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Índice de Gravidade de Doença
10.
Eur Neurol ; 80(1-2): 68-70, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30231251

RESUMO

We present a rare case of primary malignant melanoma of the central nervous system. We underline the difficulties we faced during diagnostic procedures. Finally, postmortem examination revealed the diagnosis of primary pauci--melanotic leptomeningeal melanomatosis.


Assuntos
Melanoma/diagnóstico , Melanoma/patologia , Carcinomatose Meníngea/diagnóstico , Carcinomatose Meníngea/patologia , Idoso , Autopsia , Evolução Fatal , Humanos , Masculino
11.
Neurol Sci ; 37(3): 417-21, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26590991

RESUMO

Diagnosis of amyotrophic lateral sclerosis (ALS) is based on clinical criteria and electrophysiological tests (electromyography, and transcranial magnetic stimulation). In the search for ALS biomarkers, the role of imaging procedures is currently emphasized, especially modern MR techniques. MR procedures were performed on 15 ALS patients and a sex- and age-matched control group. The MR examinations were performed with a 1.5-T MR unit, and the protocol consisted of sagittal T1-weighed images, sagittal and axial T2-weighed images, and sagittal T2-weighed FAT SAT images followed by an axial diffusion tensor imaging (DTI) sequence of the cervical spinal cord. FA values in individual segments of the cervical spinal cord were decreased in the ALS group in comparison with the control group. After comparing FA values for anterior, posterior, and lateral corticospinal columns, the greatest difference was observed between the C2 and C5 segments. Spinal cord assessment with the use of FA measurements allows for confirmation of the motor pathways lesion in ALS patients. The method, together with clinical criteria, could be helpful in ALS diagnosis, assessment of clinical course, or even the effects of new drugs. The results also confirmed the theory of the generalized character of ALS.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico por imagem , Medula Cervical/diagnóstico por imagem , Imagem de Tensor de Difusão/métodos , Imageamento por Ressonância Magnética/métodos , Adulto , Idoso , Anisotropia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Vias Neurais/diagnóstico por imagem , Adulto Jovem
12.
J Addict Med ; 9(3): 244-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25835774

RESUMO

OBJECTIVES: A new form of manganese poisoning is related to the intravenous use of self-prepared methcathinone hydrochloride (ephedrone). Manganese encephalopathy typically manifests as a levodopa-resistant parkinsonism. MAIN POINTS: A 32-year-old drug-addicted man with acute gait disturbances after the ephedrone injections was presented. Choreic movements, severe postural instability, and "cock-walk" gait were observed. Magnetic resonance imaging T1 images showed high signal intensity of white matter in the basal ganglia and pituitary gland, and T2 images showed decreased signal mostly of globus pallidus with decreased N-acetylaspartate and choline levels in MR spectroscopy. CONCLUSIONS: The unusual pattern of MR imaging may explain the unusual clinical symptoms with dominant hyperkinetic syndrome.


Assuntos
Hipercinese/induzido quimicamente , Propiofenonas , Transtornos Relacionados ao Uso de Substâncias/complicações , Doença Aguda , Adulto , Encéfalo/patologia , Humanos , Hipercinese/patologia , Imageamento por Ressonância Magnética , Masculino , Neuroimagem , Propiofenonas/efeitos adversos , Transtornos Relacionados ao Uso de Substâncias/patologia
13.
Neurodegener Dis ; 12(1): 1-12, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-22831964

RESUMO

BACKGROUND: The role of white matter hyperintensities (WMH) and homocysteine (Hcy) and other vascular risk factors in the pathogenesis of Parkinson's disease (PD) dementia (PDD) remains unclear. OBJECTIVE: The aim of the study was to assess the impact of WMH, Hcy and other biochemical and vascular risk factors on PDD. METHODS: A total of 192 patients with PD and 184 age- and sex-matched healthy controls were included. A semistructured interview was used to assess demographic and clinical variables with respect to vascular risk factors (arterial hypertension, diabetes mellitus, atrial fibrillation, ischemic heart disease, obliterative atherosclerosis, hypercholesterolemia, smoking, alcohol intake). Unified Parkinson's Disease Rating Scale score, Hoehn-Yahr staging and the Schwab-England activities of daily living scale were used to assess motor abilities and activities of daily living. A complex neuropsychological examination with a battery of tests was used to classify patients into a group with dementia (PDD) and a group without dementia (PD). Neuroradiological examination of MRI scans included visual rating scales for WMH (according to the Wahlund and Erkinjunntti rating scales) and the Scheltens scale for hippocampal atrophy. Blood samples for Hcy, folate, vitamin B12, fibrinogen, lipids, glucose, creatinine, transaminases and thyroid stimulating hormone (TSH) were examined. RESULTS: Among all patients, 57 (29.7%) fulfilled the diagnostic criteria for dementia. Significantly higher Hcy plasma levels were noted in PD and PDD groups compared to controls (p < 0.05) and in PDD when compared to PD (p < 0.05). According to multivariate regression analysis, WMH (Erkinjuntti scale), high Hcy, low vitamin B12 and folate plasma levels were independent risk factors for PDD. Vascular risk factors did not play any role in the pathogenesis of PDD and WMH. CONCLUSIONS: WMH along with Hcy, folate and vitamin B12 may impact cognition in PD. Therapy with vitamin B12, folate and catechol-O-methyltransferase inhibitors may play a potential protective role against PDD.


Assuntos
Gânglios da Base/patologia , Hipocampo/patologia , Homocisteína/sangue , Fibras Nervosas/patologia , Doença de Parkinson/patologia , Paralisia Supranuclear Progressiva/patologia , Idoso , Doenças Cardiovasculares/complicações , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/diagnóstico , Doença de Parkinson/etnologia , Polônia , Fatores de Risco , Paralisia Supranuclear Progressiva/diagnóstico , Paralisia Supranuclear Progressiva/etnologia , População Branca
14.
J Orofac Pain ; 26(4): 315-20, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23110271

RESUMO

AIMS: To conduct a clinical electrophysiologic evaluation of autonomic nervous system functions in patients with burning mouth syndrome and Parkinson disease and estimate the type and intensity of the autonomic dysfunction. METHODS: The study involved 83 subjects-33 with burning mouth syndrome, 20 with Parkinson disease, and 30 controls. The BMS group included 27 women and 6 men (median age, 60.0 years), and the Parkinson disease group included 15 women and 5 men (median age, 66.5 years). In the control group, there were 20 women and 10 men (median age, 59.0 years). All patients were subjected to autonomic nervous system testing. In addition to the Low autonomic disorder questionnaire, heart rate variability (HRV), deep breathing (exhalation/inspiration [E/I] ratio), and sympathetic skin response (SSR) tests were performed in all cases. Parametric and nonparametric tests (ANOVA, Kruskal-Wallis, and Scheffe tests) were used in the statistical analysis. RESULTS: The mean values for HRV and E/I ratios were significantly lower in the burning mouth syndrome and Parkinson disease groups. Significant prolongation of SSR latency in the foot was revealed in both burning mouth syndrome and Parkinson disease patients, and lowering of the SSR amplitude occurred in only the Parkinson disease group. The autonomic questionnaire score was significantly higher in burning mouth syndrome and Parkinson disease patients than in the control subjects, with the Parkinson disease group having the highest scores. CONCLUSION: In patients with burning mouth syndrome, a significant impairment of both the sympathetic and parasympathetic nervous systems was found but sympathetic/parasympathetic balance was preserved. The incidence and intensity of autonomic nervous system dysfunction was similar in patients with burning mouth syndrome and Parkinson disease, which may suggest some similarity in their pathogeneses.


Assuntos
Doenças do Sistema Nervoso Autônomo/etiologia , Síndrome da Ardência Bucal/complicações , Síndrome da Ardência Bucal/fisiopatologia , Doença de Parkinson/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Estudos de Casos e Controles , Feminino , Resposta Galvânica da Pele , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/fisiopatologia , Taxa Respiratória , Estatísticas não Paramétricas , Inquéritos e Questionários
15.
Pharmacogenet Genomics ; 22(10): 716-24, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22890010

RESUMO

INTRODUCTION: Elevated plasma homocysteine (Hcy) concentration is an independent risk factor for cardiovascular disease, and its involvement in endothelial cell dysfunction is well established. However, the role of Hcy and folate in the pathogenesis of Parkinson's disease (PD) remains controversial. OBJECTIVES: The study was aimed at evaluating the relationships between Hcy, vitamin B12, and folic acid levels in the blood and cognitive status in PD patients with the genetic polymorphisms of MTHFR (rs1801133: C>T-677C>T, rs1801131: A>C-1298A>C), COMT (rs4680: A>G-Val158Met, rs6269: A>G, rs4633: C>T, rs4818: C>G), or SLC19A1 (rs1051266: G>A-80G>A). METHODS: A total of 502 participants (248 with PD and 254 age-matched and sex-matched controls) were included in the study. The Unified Parkinson's Disease Rating Scale score, Hoehn-Yahr staging, and the Schwab-England scale were used to assess motor abilities and activity during daily life. Complex psychological examination with a battery of tests was used to classify patients into groups with (PDD) and without (nPDD) dementia. Blood samples were examined for Hcy, vitamin B12, and folic acid levels, as well as polymorphisms in genes related to Hcy metabolism, such as COMT, MTHFR, and SLC19A1(RFC-1). RESULTS: The frequency of homozygous COMT rs4680G and rs4633C allele carriers was significantly decreased in PD patients in comparison with the controls (P=0.015; odds ratio=0.60; 95% confidence interval 0.41-0.90 and P=0.020; odds ratio=0.619; 95% confidence interval 0.42-0.92, respectively). No significant differences in the distribution of MTHFR 677C>T, 1298A>C, and SLC19A1 80G>A alleles and genotypes between PD patients and the controls were found. Hcy levels were significantly increased in PD patients (18±7.8 µmol/l) as compared with the controls (14.0±9.6 µmol/l, P=10(-8)) and were significantly associated with the MTHFR 677C>T polymorphism both in PD patients and controls, in which T allele carriers were characterized by markedly elevated Hcy plasma concentrations. No association was observed between Hcy plasma level and COMT and SLC19A polymorphisms. The results of multivariate logistic regression analysis revealed age (P=0.0003) and Hcy plasma levels (P=0.07) as independent risk factors predisposing individuals to PD dementia. The studied polymorphisms were not associated with cognitive status in PD patients. CONCLUSION: The genetic factors studied were not associated with cognitive status in PD patients. Only age and Hcy plasma levels were found to be independent risk factors predisposing individuals to PD dementia. However, COMT: rs4680: A>G and rs4633: C>T polymorphisms were found to significantly affect PD risk, and the MTHFR 677C>T polymorphism helped determine plasma Hcy concentrations.


Assuntos
Catecol O-Metiltransferase/genética , Transtornos Cognitivos/genética , Homocisteína/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Doença de Parkinson/genética , Polimorfismo Genético , Proteína Carregadora de Folato Reduzido/genética , Feminino , Ácido Fólico/sangue , Ácido Fólico/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Homocisteína/genética , Humanos , Masculino , Doença de Parkinson/sangue , Doença de Parkinson/psicologia , Vitamina B 12/sangue , Vitamina B 12/genética
16.
Neurol Sci ; 33(2): 423-7, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21909746

RESUMO

Parry-Romberg syndrome (PRS) is a rare disorder, described in the nineteenth century by Caleb Parry and Moritz Romberg, characterized by acquired and slowly progressive atrophy of one side of the face. The pathogenesis of PRS is still unclear. Immune-mediated processes are thought to be a basic factor in PRS etiology, but autonomic nervous system might also be impaired. A case of PRS in a 26-year-old woman with coexisting disturbances in the lower left limb is presented. The multimodal electrophysiological studies were done, including electroencephalography, visual, brain auditory, somatosensory and trigeminal somatosensory evoked potentials, blink reflex, standard neurographic and electromyographic examinations, quantitative sensory tests and autonomic tests. Neuroimaging studies consisted of brain MR, single voxel proton MR spectroscopy, diffusion tensor imaging with fiber tractography. Based on multimodal electrophysiological and neuroimaging studies, it was concluded that the impairment in PRS is multisystemic, i.e., motor, sensory, and autonomic. A cortical origin of the symptoms is possible.


Assuntos
Eletroencefalografia , Eletromiografia , Hemiatrofia Facial/patologia , Hemiatrofia Facial/fisiopatologia , Neuroimagem , Adulto , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Encéfalo/metabolismo , Encéfalo/patologia , Colina/metabolismo , Feminino , Humanos , Inositol/metabolismo , Limiar Sensorial/fisiologia , Estatística como Assunto , Trítio
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