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BACKGROUND: Deep brain stimulation (DBS) of the nucleus basalis of Meynert (NBM) is an emerging target to potentially treat cognitive dysfunction. OBJECTIVES: The aim of this study is to achieve feasibility and safety of globus pallidus pars interna (GPi) and NBM DBS in advanced PD with cognitive impairment. METHODS: We performed a phase-II double-blind crossover pilot trial in six participants to assess safety and cognitive measures, the acute effect of NBM stimulation on attention, motor and neuropsychological data at one year, and neuroimaging biomarkers of NBM stimulation. RESULTS: NBM DBS was well tolerated but did not improve cognition. GPi DBS improved dyskinesia and motor fluctuations (P = 0.04) at one year. NBM stimulation was associated with reduced right frontal and parietal glucose metabolism (P < 0.01) and increased low- and high-frequency power and functional connectivity. Volume of tissue activated in the left NBM was associated with stable cognition (P < 0.05). CONCLUSIONS: Simultaneous GPi and NBM stimulation is safe and improves motor complications. NBM stimulation altered neuroimaging biomarkers but without lasting cognitive improvement. © 2021 International Parkinson and Movement Disorder Society.
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Estimulação Encefálica Profunda , Doença de Parkinson , Núcleo Basal de Meynert , Cognição , Estimulação Encefálica Profunda/métodos , Globo Pálido , Humanos , Doença de Parkinson/complicaçõesRESUMO
INTRODUCTION: Programming directional leads poses new challenges as the optimal strategy is yet to be established. We designed a randomized control study to establish an evidence-based programming algorithm for patients with Parkinson's disease undergoing subthalamic nucleus deep brain stimulation with directional leads. METHODS: Fourteen consecutive patients were randomized to programming with either early or delayed (i.e., starting with a "ring mode") steered stimulation. Motor scores, number of programming visits, calls to the clinic, battery consumption, and stimulation adjustments required were recorded and compared between groups, using the Wilcoxon signed-ranks test, after 3 months of open-label programming. RESULTS: Thirteen patients (25 electrodes) were included, of which 23 were steerable. Nine out of 14 electrodes allocated to delayed steered stimulation were changed to steered mode due to side effects during the course of the study. No patients (11 electrodes) initially allocated to early steered stimulation were converted to ring mode. The 2 study arms did not differ in any of the considered measures at 3 months. CONCLUSION: Programming with early or delayed steered stimulation is equally effective in the short term. However, delayed steering is less time consuming and is not always needed.
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Estimulação Encefálica Profunda , Doença de Parkinson , Núcleo Subtalâmico , Algoritmos , Humanos , Doença de Parkinson/terapia , Estudos Prospectivos , Núcleo Subtalâmico/fisiologiaRESUMO
BackgroundWith growing numbers of patients receiving deep brain stimulation (DBS), radiologists are encountering these neuromodulation devices at an increasing rate. Current MRI safety guidelines, however, limit MRI access in these patients.PurposeTo describe an MRI (1.5 T and 3 T) experience and safety profile in a large cohort of participants with active DBS systems and characterize the hardware-related artifacts on images from functional MRI.Materials and MethodsIn this prospective study, study participants receiving active DBS underwent 1.5- or 3-T MRI (T1-weighted imaging and gradient-recalled echo [GRE]-echo-planar imaging [EPI]) between June 2017 and October 2018. Short- and long-term adverse events were tracked. The authors quantified DBS hardware-related artifacts on images from GRE-EPI (functional MRI) at the cranial coil wire and electrode contacts. Segmented artifacts were then transformed into standard space to define the brain areas affected by signal loss. Two-sample t tests were used to assess the difference in artifact size between 1.5- and 3-T MRI.ResultsA total of 102 participants (mean age ± standard deviation, 60 years ± 11; 65 men) were evaluated. No MRI-related short- and long-term adverse events or acute changes were observed. DBS artifacts were most prominent near the electrode contacts and over the frontoparietal cortical area where the redundancy of the extension wire is placed subcutaneously. The mean electrode contact artifact diameter was 9.3 mm ± 1.6, and 1.9% ± 0.8 of the brain was obscured by the coil artifact. The coil artifacts were larger at 3 T than at 1.5 T, obscuring 2.1% ± 0.7 and 1.4% ± 0.7 of intracranial volume, respectively (P < .001). The superficial frontoparietal cortex and deep structures neighboring the electrode contacts were most commonly obscured.ConclusionWith a priori local safety testing, patients receiving deep brain stimulation may safely undergo 1.5- and 3-T MRI. Deep brain stimulation hardware-related artifacts only affect a small proportion of the brain.© RSNA, 2019Online supplemental material is available for this article.See also the editorial by Martin in this issue.
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Artefatos , Encéfalo/diagnóstico por imagem , Estimulação Encefálica Profunda/instrumentação , Eletrodos Implantados , Imageamento por Ressonância Magnética/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Imagem Ecoplanar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
PURPOSE OF REVIEW: Ablations and particularly deep brain stimulation (DBS) of a variety of CNS targets are established therapeutic tools for movement disorders. Accurate targeting of the intended structure is crucial for optimal clinical outcomes. However, most targets used in functional neurosurgery are sub-optimally visualized on routine MRI. This article reviews recent neuroimaging advancements for targeting in movement disorders. RECENT FINDINGS: Dedicated MRI sequences can often visualize to some degree anatomical structures commonly targeted during DBS surgery, including at 1.5-T field strengths. Due to recent technological advancements, MR images using ultra-high magnetic field strengths and new acquisition parameters allow for markedly improved visualization of common movement disorder targets. In addition, novel neuroimaging techniques have enabled group-level analysis of DBS patients and delineation of areas associated with clinical benefits. These areas might diverge from the conventionally targeted nuclei and may instead correspond to white matter tracts or hubs of functional networks. Neuroimaging advancements have enabled improved direct visualization-based targeting as well as optimization and adjustment of conventionally targeted structures.
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Estimulação Encefálica Profunda/métodos , Transtornos dos Movimentos/diagnóstico por imagem , Neuroimagem/métodos , Humanos , Imageamento por Ressonância Magnética , Neurocirurgia , Procedimentos NeurocirúrgicosAssuntos
Blefarospasmo/tratamento farmacológico , Toxinas Botulínicas Tipo A/administração & dosagem , Toxinas Botulínicas Tipo A/uso terapêutico , Espasmo Hemifacial/tratamento farmacológico , Injeções/métodos , Fármacos Neuromusculares/administração & dosagem , Fármacos Neuromusculares/uso terapêutico , Adulto , Idoso , Toxinas Botulínicas Tipo A/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fármacos Neuromusculares/efeitos adversos , Órbita , Articulações Tarsianas , Resultado do TratamentoRESUMO
BACKGROUND: Premature newborns have a higher risk of abnormal visual development and visual impairment. OBJECTIVE: To develop a computational methodology to help assess functional vision in premature infants by tracking iris distances. METHODS: This experimental study was carried out with children up to two years old. A pattern of image capture with the visual stimulus was proposed to evaluate visual functions of vertical and horizontal visual tracking, visual field, vestibulo-ocular reflex, and fixation. The participants' visual responses were filmed to compose a dataset and develop a detection algorithm using the OpenCV library allied with FaceMesh for the detection and selection of the face, detection of specific facial points and tracking of the iris positions is done. A feasibility study was also conducted from the videos processed by the software. RESULTS: Forty-one children of different ages and diagnoses participated in the experimental study, forming a robust dataset. The software resulted in the tracking of iris positions during visual function evaluation stimuli. Furthermore, in the feasibility study, 8 children participated, divided into Pre-term and Term groups. There was no statistical difference in any visual variable analyzed in the comparison between groups. CONCLUSION: The computational methodology developed was able to track the distances traveled by the iris, and thus can be used to help assess visual function in children.
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Recém-Nascido Prematuro , Visão Ocular , Lactente , Criança , Recém-Nascido , Humanos , Recém-Nascido Prematuro/fisiologia , Software , Algoritmos , Estudos de ViabilidadeRESUMO
Background: Functional movement disorders (FMD) are a commonly under-recognized diagnosis in patients with underlying neurodegenerative diseases. FMD have been observed in patients undergoing deep brain stimulation (DBS) for Parkinson's disease (PD) and other movement disorders. The prevalence of coexisting FMD among movement disorder-related DBS patients is unknown, and it may occur more often than previously recognized. Methods: We retrospectively assessed the relative prevalence and clinical characteristics of FMD occurring post-DBS, in PD and dystonia patients (FMD+, n = 29). We compared this cohort with age at surgery-, sex-, and diagnosis-matched subjects without FMD post-DBS (FMD-, n = 29). Results: Both the FMD prevalence (0.2%-2.1%) and the number of cases/DBS procedures/year varied across centers (0.15-3.65). A total of nine of 29 FMD+ cases reported worse outcomes following DBS. Although FMD+ and FMD- manifested similar features, FMD+ showed higher psychiatric comorbidity. Conclusions: DBS may be complicated by the development of FMD in a subset of patients, particularly those with pre-morbid psychiatric conditions.
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Background: Handicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD). Objective: To characterize the handicap of a broader sample of patients. Methods: A cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L. Handicap was measured using the London Handicap Scale (LHS). Results: Mean age was 64.42 (±10.3) years, mean disease duration 11.30 (±6.5) years and median HY 2 (IQR, 2-3). Mean LHS was 0.652 (±0.204); "Mobility," "Occupation" and "Physical Independence" were the most affected domains. LHS was significantly worse in patients with longer disease duration, older age and increased disability. In contrast, PDQ-8 did not differentiate age groups. Handicap was significantly correlated with disease duration (r = -0.35), nonmotor experiences of daily living (EDL) (MDS-UPDRS-I) (r = -0.51), motor EDL (MDS-UPDRS-II) (r = -0.69), motor disability (MDS-UPDRS-III) (r = -0.49), axial signs of MDS-UPDRS-III (r = -0.55), HY (r = -0.44), presence of nonmotor symptoms (r = -0.51) and PDQ-8 index (r = -0.64) (all P < 0.05). Motor EDL, MDS-UPDRS-III and PDQ-8 independently predicted Handicap (adjusted R 2 = 0.582; P = 0.007). Conclusions: The LHS was easily completed by patients and caregivers. Patients were mild-moderately handicapped, which was strongly determined by motor disability and its impact on EDL, and poor QoL. Despite correlated, handicap and QoL seem to differ in what they measure, and handicap may have an added value to QoL. Handicap seems to be a good measure of perceived-health status in a broad sample of PD.
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BACKGROUND: Functional (psychogenic) dyskinesias in patients with Parkinson's disease (PD) are exceedingly rare. CASES: Herein we report three patients with PD who presented with functional dyskinesias in the first 3 months after subthalamic nucleus deep brain stimulation (DBS). All patients presented with chorea mimicking levodopa or stimulation-induced dyskinesias in the first 24 hours following stimulation adjustment. Two patients had generalized chorea and one, hemichorea. In all patients the abnormal movements could be induced or resolved with placebo/nocebo changes to the stimulation parameters. Following the diagnosis of a functional movement disorder (FMD), all patients improved with appropriate management. CONCLUSIONS: Functional chorea following DBS might mimic organic dyskinesias in PD but can be accurately diagnosed using suggestibility and placebo responses to sham stimulation adjustments. Recognizing the presence of FMD following DBS is important for proper management of these patients.
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BACKGROUND: Deep brain stimulation (DBS) of the subthalamus (STN) is effective for the treatment of cardinal motor signs of Parkinson disease (PD). Structures around the STN can suppress dyskinesia and tremor (zona incerta) and improve gait and balance (substantia nigra pars reticulata). OBJECTIVE: Is the newer 8-contact linear lead connected to a 'flexible' DBS system superior to standard 4-contact stimulation in PD patients receiving STN DBS? METHODS: After 3 months of open label programming, 10 patients were randomized to standard or flexible stimulation before crossing over to the other arm (3 months each period). Patients and assessors were blinded. RESULTS: A trend to improvement in Patient Global Impression of Change scores was seen with standard to flexible stimulation and worsening from flexible to standard stimulation (mean ± SD: 0.7 ± 1.2 and -0.4 ± 1.5 respectively, p = 0.152). There was a significant reduction in the number of troublesome symptoms reported prior to DBS (2.6 ± 3.3 per patient), more so with flexible stimulation (0.4 ± 0.6 vs. 1.5 ± 1.6 with standard stimulation, p = 0.001 and p = 0.034). There was no significant difference between the flexible and standard stimulation groups. CONCLUSION: Further studies confirming that flexible stimulation is superior to standard DBS are warranted.
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Estimulação Encefálica Profunda , Doença de Parkinson/terapia , Subtálamo , Adulto , Estudos Cross-Over , Estimulação Encefálica Profunda/métodos , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Estudo de Prova de ConceitoRESUMO
BACKGROUND: Noninvasive stimulation has been widely used in the past 30 years to study and treat a large number of neurological diseases, including movement disorders. OBJECTIVE: In this critical review, we illustrate the rationale for use of these techniques in movement disorders and summarize the best medical evidence based on the main clinical trials performed to date. METHODS: A nationally representative group of experts performed a comprehensive review of the literature in order to analyze the key clinical decision-making factors driving transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) in movement disorders. Classes of evidence and recommendations were described for each disease. RESULTS: Despite unavoidable heterogeneities and low effect size, TMS is likely to be effective for treating motor symptoms and depression in Parkinson's disease (PD). The efficacy in other movement disorders is unclear. TMS is possibly effective for focal hand dystonia, essential tremor and cerebellar ataxia. Additionally, it is likely to be ineffective in reducing tics in Tourette syndrome. Lastly, tDCS is likely to be effective in improving gait in PD. CONCLUSIONS: There is encouraging evidence for the use of noninvasive stimulation on a subset of symptoms in selected movement disorders, although the means to optimize protocols for improving positive outcomes in routine clinical practice remain undetermined. Similarly, the best stimulation paradigms and responder profile need to be investigated in large clinical trials with established therapeutic and assessment paradigms that could also allow genuine long-term benefits to be determined.
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Ataxia Cerebelar , Distúrbios Distônicos , Doença de Parkinson , Estimulação Transcraniana por Corrente Contínua , Humanos , Doença de Parkinson/terapia , Estimulação Magnética TranscranianaRESUMO
OBJECTIVE: Many centers are hesitant to perform clinically indicated MRI in patients who have undergone deep brain stimulation (DBS). Highly restrictive guidelines prohibit the use of most routine clinical MRI protocols in these patients. The authors' goals were to assess the safety of spine MRI in patients with implanted DBS devices, first through phantom model testing and subsequently through validation in a DBS patient cohort. METHODS: A phantom was used to assess DBS device heating during 1.5-T spine MRI. To establish a safe spine protocol, routinely used clinical sequences deemed unsafe (a rise in temperature > 2°C) were modified to decrease the rise in temperature. This safe phantom-based protocol was then used to prospectively run 67 spine MRI sequences in 9 DBS participants requiring clinical imaging. The primary outcome was acute adverse effects; secondary outcomes included long-term adverse clinical effects, acute findings on brain MRI, and device impedance stability. RESULTS: The increases in temperature were highest when scanning the cervical spine and lowest when scanning the lumbar spine. A temperature rise < 2°C was achieved when 3D sequences were modified to 2D and when the number of slices was decreased by the minimum amount compared to routine spine MRI protocols (but there were still more slices than allowed by vendor guidelines). Following spine MRI, no acute or long-term adverse effects or acute findings on brain MR images were detected. Device impedances remained stable. CONCLUSIONS: Patients with DBS devices may safely undergo spine MRI with a fewer number of slices compared to those used in routine clinical protocols. Safety data acquisition may allow protocols outside vendor guidelines with a maximized number of slices, reducing the need for radiologist supervision.Clinical trial registration no.: NCT03753945 (ClinicalTrials.gov).
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INTRODUCTION: Chorea is well described in a group of patients with Systemic Lupus Erythematosus (SLE). There is less information, however, on other movement disorders as well as non-motor neuropsychiatric features such as obsessive-compulsive symptoms (OCS), executive dysfunction and attention deficit and hyperactivity disorder (ADHD) in subjects with SLE. METHODS: Fifty-four subjects with SLE underwent a battery of neuropsychiatric tests that included the Mini Mental State Examination, the Montreal Cognitive Assessment, the Frontal Assessment Battery (FAB), the FAS verbal and the categorical (animals) semantic fluency tests, the Obsessive and Compulsive Inventory - Revised, the Yale-Brown Obsessive and Compulsive Scale and Beck's Anxiety and Depression Scales. ADHD was diagnosed according to DSM-IV criteria. SLE disease activity and cumulative damage were evaluated according to the modified SLE Disease Activity Index 2000 (mSLEDAI-2K) and the SLICC/ACR, respectively. RESULTS: Six (11.1%) and 33 (61.1%) patients had cognitive impairment according to the MMSE and MoCA, respectively. Eleven (20.4%) had abnormal FAB scores, and 5 (9.3%) had lower semantic fluency scores than expected. The overall frequency of cognitive dysfunction was 72.2% (39 patients) and of neuropsychiatric SLE was 77.8% (42 patients). Two patients (3.7%) had movement disorders. Fifteen (27.8%) had OCS and 17 (31.5%) met diagnostic criteria for ADHD. ADHD and OCS correlated with higher disease activity, p=0.003 and 0.006, respectively. Higher cumulative damage correlated with lower FAB scores (p 0.026). CONCLUSIONS: Executive dysfunction, ADHD, OCS, and movement disorders are common in SLE. Our finding suggests that there is frequent basal ganglia dysfunction in SLE.
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Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtornos Cognitivos/complicações , Comportamento Compulsivo/complicações , Função Executiva/fisiologia , Lúpus Eritematoso Sistêmico/complicações , Comportamento Obsessivo/complicações , Adulto , Ansiedade/complicações , Ansiedade/fisiopatologia , Ansiedade/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Gânglios da Base/fisiopatologia , Transtornos Cognitivos/fisiopatologia , Transtornos Cognitivos/psicologia , Comportamento Compulsivo/fisiopatologia , Comportamento Compulsivo/psicologia , Depressão/complicações , Depressão/fisiopatologia , Depressão/psicologia , Feminino , Humanos , Lúpus Eritematoso Sistêmico/fisiopatologia , Lúpus Eritematoso Sistêmico/psicologia , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Comportamento Obsessivo/fisiopatologia , Comportamento Obsessivo/psicologia , Escalas de Graduação PsiquiátricaRESUMO
Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
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Distúrbios do Metabolismo do Ferro/diagnóstico por imagem , Distúrbios do Metabolismo do Ferro/genética , Mutação , Distrofias Neuroaxonais/diagnóstico por imagem , Distrofias Neuroaxonais/genética , Neuroimagem/métodos , Alopecia/diagnóstico por imagem , Alopecia/genética , Arritmias Cardíacas/diagnóstico por imagem , Arritmias Cardíacas/genética , Doenças dos Gânglios da Base/diagnóstico por imagem , Doenças dos Gânglios da Base/genética , Ceruloplasmina/deficiência , Ceruloplasmina/genética , Coenzima A Ligases/genética , Diabetes Mellitus/diagnóstico por imagem , Diabetes Mellitus/genética , Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico por imagem , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Humanos , Hipogonadismo/diagnóstico por imagem , Hipogonadismo/genética , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética/métodos , Proteínas de Membrana/genética , Doenças Neurodegenerativas/diagnóstico por imagem , Doenças Neurodegenerativas/genética , Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico por imagem , Neurodegeneração Associada a Pantotenato-Quinase/genética , Transtornos Parkinsonianos/diagnóstico por imagem , Transtornos Parkinsonianos/genética , Fosfolipases A2/genéticaRESUMO
Phacomatosis pigmentokeratotica is characterized by the coexistence of nevus sebaceus, papular nevus spilus and associated neurologic abnormalities. We report a case of phacomatosis pigmentokeratotica in a 28-year-old male who presented with palmar-plantar dysesthesia and ipsilateral brain hemiatrophy. As a characteristic neuroimaging finding of the disorder, we found multiple hypointense lesions involving the ipsilateral hemisphere.
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Introdução: A doença tromboembólica venosa e as complicações obstétricas resultantes do tromboembolismo placentário são as principais causas de morbidade e mortalidade materna e fetal. Pode-se dizer que a gravidez é um fator independente para o desenvolvimento de trombose, já que seu risco é de 5 a 6 vezes maior em mulheres grávidas quando comparadas a não grávidas, sendo mais elevado após o parto. Métodos: Trata-se de uma coorte histórica, onde foram estudadas pacientes atendidas no Serviço de Obstetrícia da Universidade Federal de Juiz de Fora (expostos=n=70 pacientes) e na Faculdade de Medicina de Barbacena (não expostos=n=74 pacientes). As pacientes foram divididas em dois grupos: Grupo 1 = pacientes com alguma trombofilia identificada (expostos) através das dosagens de proteína S, proteína C, homocisteína, antitrombina III, mutação da MTHFR, mutação da protrombina e do fator V de Leiden; e Grupo 2 = pacientes do serviço de baixo risco obstétrico. Resultados: Houve associação entre trombofilia e aborto prévio, bem como trombofilia e morte fetal prévia (p<0,05). O tipo de trombofilia que foi associada a abortamento prévio foi o déficit da proteína S. A mutação da MTHFR foi associada aos antecedentes de HELLP síndrome (p=0,03; x2 =4,2) e de pré-eclâmpsia (p=0,03; X2 =4,5) quando em homozigotia mutante. A homozigotia para a MTHFR foi também associada às médias de homocisteína, de forma que as homozigotas eram aquelas que apresentavam a maior dosagem de homocisteína (p=0,01; X2 =5,8; X= 27,2 ± 41,2 vs. 12,62 ± 19,0). Conclusão: As trombofilias hereditárias podem estar associadas a mau desfecho obstétrico e devem ser valorizadas na clínica obstétrica. (AU)
Introduction: Venous thromboembolic disease and obstetric complications resulting from placental thromboembolism are the main causes of maternal and fetal morbidity and mortality. Pregnancy is considered an independent factor for the development of thrombosis, as its risk is 5 to 6 times greater in pregnant women when compared to non-pregnant women, being even higher after childbirth. Methods: This historical cohort included patients seen at the Obstetrics Service of Federal University of Juiz de Fora (exposed patients, n = 70) and at the School of Medicine of Barbacena (unexposed patients, n = 74). The patients were divided into two groups: Group 1 consisted of patients with some thrombophilia identified through measurement of protein S, protein C, homocysteine, antithrombin III, MTHFR mutation, prothrombin and factor V Leiden mutations; and Group 2 consisted of patients from the low obstetric risk service. Results: There was an association between thrombophilia and previous abortion, as well as thrombophilia and previous fetal death (p < 0.05). MTHFR mutation was associated with history of HELLP syndrome (p = 0.03; x2 = 4.2) and preeclampsia (p = 0.03; x2 = 4.5) when in homozygous mutation. Homozygous MTHFR was also associated with mean homocysteine levels, so that homozygotes were those with highest homocysteine levels (p = 0.01; x2 = 5.8; x = 27.2 ± 41.2 vs. 12.62 ± 19.0). Conclusions: Hereditary thrombophilias may be associated with poor obstetric outcome and should be valued at clinical obstetrics. (AU)
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Humanos , Feminino , Gravidez , Adolescente , Adulto , Pessoa de Meia-Idade , Estudos de Coortes , Trombofilia , Insuficiência Placentária/mortalidade , Brasil/epidemiologia , Aborto Espontâneo , Morte FetalRESUMO
Huntington's disease (HD) is a rare neurodegenerative disease with a multitude of symptoms, which requires access to specialized multidisciplinary care for adequate management. The aim of this study was to survey the characteristics of care in various HD centers in South America (SA). Methods A questionnaire was sent to 24 centers involved in the care for HD patients in SA. Results Of the total 24 centers, 19 (79.2%) are academic units. The majority of centers (62.5%) are general movement disorders clinics. Multidisciplinary care is available in 19 (79.2%) centers and in 20 (83.3%) care is provided free of charge. Genetic testing and counseling are available in 25 and 66.6% of centers, respectively. The majority of centers (83.3%) have no institutional support for end-stage care. Conclusions Although HD centers in SA are committed to providing multidisciplinary care, access to genetic counseling and end-stage care are lacking in most centers.