Introduction: Chemotherapy-induced peripheral neuropathy (CIPN) is a common and often dose-limiting side effect. Restless Legs Syndrome (RLS) is also a common sensory-motor neurological disorder, characterized by uncomfortable and unpleasant sensations in the legs, followed by an urgency to move them. The presence of CIPN has been associated with the risk of falls in cancer survivors. Objectives: To determine the frequency and factors associated with falls in chemotherapy patients, and to evaluate the possible association between suggestive symptoms of CIPN, RLS and falls. Design: A total of 234 oncological patients undergoing chemotherapy treatment were interviewed, with questions regarding sociodemographic data, diagnosis, treatment and occurrence of falls. Besides, it was used the Chemotherapy Induced Peripheral Neuropathy Assessment Tool (CIPNAT) and diagnostic criteria for SPI. Results: The mean age of the sample was 53.4 years (± 13.1), of which 73.9% were female. Suggestive symptoms of CIPN were present in 51.7% of the patients, and falls were reported in 30.7%. There was association between the presence of neuropathic symptoms and falls (p = 0.0191), with a 1.65 fold increase in the prevalence of falls compared to patients without neuropathic symptoms. In individuals younger than 65 years of age, we observed a greater association between CIPN symptoms and falls (p = 0.0016). Patients with falls had a higher score on items that assessed interference in daily life activities. In addition, there was also a statistically significant association of RLS with symptoms of CIPN (p = 0.0005), RLS with falls (p = 0.0152), and RLS associated with neuropathic symptoms with falls (p = 0.0061). Conclusions: The findings of the present study suggest that falls are common in chemotherapy patients, and symptoms of CIPN and RLS contribute to increased falls. Moreover, these two disorders, when associated, act synergistically, further increasing the prevalence of falls. / Introdução: A neuropatia periférica induzida por quimioterapia (NPIQ) é um efeito colateral comum e frequentemente dose-limitante. A Síndrome das Pernas Inquietas (SPI) também é uma desordem neurológica sensitivomotora comum, caracterizada por sensações desconfortáveis e desagradáveis nas pernas, seguidas de urgência em movimentá-las. A presença de NPQI tem sido associada ao risco de quedas em sobreviventes de câncer. Objetivos: Determinar a frequência e os fatores associados a quedas em pacientes em quimioterapia, e avaliar possível associação entre sintomas sugestivos de NPIQ, SPI e quedas. Métodos: Foram entrevistados 234 pacientes oncológicos em tratamento quimioterápico, com perguntas referentes a dados sociodemográficos, diagnóstico, tratamento e ocorrência de quedas, além de ter sido utilizada a Ferramenta de Avaliação de Neuropatia Periférica Induzida por Quimioterapia (FANPIQ) e aplicados critérios diagnósticos para SPI. Resultados: A média de idade da amostra foi de 53.4 anos (±13.1), sendo 73.9% do sexo feminino. Sintomas sugestivos de NPIQ estavam presentes em 51.7% dos pacientes, e em 30.7% foram relatadas quedas. Houve associação entre a presença de sintomas neuropáticos e quedas (p = 0.0191), com aumento de 1.65 vezes na prevalência de quedas em relação aos pacientes sem sintomas neuropáticos. Em indivíduos com menos de 65 anos observamos uma maior relação entre sintomas de NPIQ e quedas (p=0.0016). Pacientes com quedas apresentaram uma pontuação maior nos itens que avaliam a interferência nas atividades de vida diária. Além disso, também houve associação estatisticamente significante de SPI com sintomas de NPIQ (p=0.0005), SPI com quedas (p=0.0152), e SPI associada a sintomas neuropáticos com quedas (p=0.0061). Conclusões: Os achados do presente estudo sugerem que quedas são frequentes nos pacientes em quimioterapia, e sintomas de NPIQ e SPI contribuem para o aumento de quedas. E mais, que estas duas desordens, quando associadas, agem de forma sinérgica, aumentando ainda mais a prevalência de quedas. / Aracaju

Background: Symptoms of anxiety and depression in patients with restless legs syndrome (RLS) have been observed. However, it is unclear whether rates of threshold depression and anxiety disorders according to DSM-IV criteria in such patients are also elevated. Methods: 238 RLS patients were assessed with a standardized diagnostic interview (Munich- Composite International Diagnostic Interview for DSM-IV) validated for subjects aged 18–65 years. Rates of anxiety and depressive disorders were compared between 130 RLS patients within this age range and 2265 community respondents from a nationally representative sample with somatic morbidity of other types. Results: RLS patients revealed an increased risk of having 12-month anxiety and depressive disorders with particularly strong associations with panic disorder (OR=4.7; 95% CI=2.1–10.1), generalized anxiety disorder (OR=3.5; 95% CI= 1.7–7.1), and major depression (OR=2.6; 95% CI=1.5–4.4). In addition, lifetime rates of panic disorder and most depressive disorders as well as comorbid depression and anxiety disorders were considerably increased among RLS patients compared with controls. Conclusions: The results suggest that RLS patients are at increased risk of having specific anxiety and depressive disorders. Causal attributions of patients suggest that a considerable proportion of the excess morbidity for depression and panic disorder might be due to RLS symptomatology.

Introduction: Restless Legs Syndrome (RLS) is more prevalent in chronic kidney disease patients in comparison to the general population, but its diagnosis is still delayed and predictors are unknown. Objectives: The goals of this study are to diagnose, determine the prevalence and severity of RLS and to identify independent variables associated with this disease among chronic dialysis patients. Methods: 326 chronic dialysis patients were launched in this observational and transversal study. International Study Group of Restless Legs Syndrome criterion was used to diagnosis RLS and International Scale of Degrees of Restless Legs Syndrome was used to determine its severity. Patients with and without RLS were compared using demographic and clinical characteristics, including dialysis modality. Statistical analysis was performed using Student t test and chi-square test (significance level p<0.05). Results: The median age was 50 years, 59% were men, 77% had time on dialysis >1 year and hypertension was the most common etiology (26%). RLS was diagnosed in 19.3% of patients and in 52.4% of them it was in severe forms. Patients with and without RLS were not different according to demographic, clinical and modalities characteristics. Conclusions: RLS is frequent in chronic dialysis patients and it happen in severe forms. Dialysis modality and other clinical characteristics analyzed in this sample may not have a significant effect on the diagnosis. Further studies are necessary to identify potentially predictors of RLS in this specific population. / Introdução: A Síndrome das Pernas Inquietas (SPI) possui maior prevalência em pacientes renais crônicos quando comparados à população geral, porém seu diagnóstico é tardio e seus preditores desconhecidos. Objetivos: Diagnosticar, determinar a frequência e avaliar a gravidade da SPI em renais crônicos em diálise, comparar prevalência e gravidade da SPI entre as modalidades dialíticas e identificar seus possíveis fatores preditores nesta população. Métodos: Estudo observacional e transversal com 326 pacientes em diálise, utilizando os critérios estabelecidos pelo Grupo Internacional de Estudo da SPI para o diagnóstico e a Escala de Graduação da SPI para determinação da sua gravidade. Compararam-se pacientes com e sem SPI no tocante a características clínico-demográficas e à modalidade dialítica. Realizou-se a análise estatística através dos testes t de Student e Qui-Quadrado, considerando p<0,05 para rejeição da hipótese nula. Resultados: Na amostra predominaram homens (59%), com média de idade de 50 anos, há mais de um ano em diálise (77%), tendo a nefrosclerose hipertensiva como principal etiologia (26,1%). Diagnosticou-se SPI em 19,3% dos pacientes e esta ocorreu em 52,4% deles nas formas grave ou muito grave. Pacientes com e sem SPI não diferiram no tocante às características clínico-demográficas e modalidade dialítica. Conclusões: A SPI é frequente em pacientes dialíticos e ocorre predominantemente nas suas formas mais graves, devendo ser pesquisada rotineiramente neles. Modalidade dialítica parece não exercer influência na sua ocorrência. Estudos adicionais são necessários na tentativa de identificar possíveis fatores preditores, já que as características analisadas nesta série não se associaram ao diagnóstico.

Restless legs syndrome (RLS) is a sensory-motor disorder characterized by abnormal circadian rhythm with an increase in the severity of sensory and motor symptoms at night. Even though many neurological diseases have shown a strong nexus between motor and cognitive symptoms, to date, cognitive functions especially cognitive control in RLS has been poorly understood. Given that cognitive control is a key to leading a self-serving and successful life, including many aspects of employment, social life, and attaining long-term goals, this thesis aimed to examine cognitive control and the underlying mechanisms in RLS. Thalamic gamma aminobutyric acid (GABA), which has been linked to RLS sensory-motor symptoms, also plays an important role in cognitive control. Therefore, the potential relationship between thalamic GABA level and cognitive control in RLS was examined (Study I). RLS patients displayed reduced working memory-based control performances as compared to healthy controls. Elevated thalamic GABA was found to attenuate the observed control deficits in RLS, even though changes in thalamic GABA levels might not be the ultimate causes of these deficits. According to the modulatory effect of thalamic GABA on thalamic activity and thalamo-cortical connectivity, relatively higher GABA levels may have helped RLS patients compensate for their pathological changes such as thalamic hyperactivity and hypoconnectivity, which may underpin the observed control deficits. The critical feature of RLS, abnormal circadian rhythm is thought to be related to nocturnal striatal dopamine deficiency. Concerning the dopaminergic modulation of cognitive control, the circadian variation of cognitive control processes has been investigated (Study II & III). RLS patients displayed reduced attentional control (Study II) and automatic response activation (Study III) at night, which resulted from decreased activation within the extra-striate visual cortex, the superior parietal cortex, and the premotor cortex. As there were no activity changes within the prefrontal cortex, it is likely that cortico-basal ganglia cognitive loops were less prone to RLS. Instead, striatal dopamine deficiency at night may have influenced the cortico-cortical functional connectivity and cortico-basal ganglia motor loops in RLS. These findings not only shed light on the underlying mechanisms of cognitive control, but also advance early clinical treatment possibilities for cognitive changes in RLS patients. Furthermore, recent insights into daytime-related cognition may help patients develop a suitable daytime schedule to minimize the detrimental effects induced by cognitive deficits.

No description available.

Le Syndrome d’Impatiences Musculaires de l’Éveil (SIME) est une maladie neurologique caractérisée par un besoin urgent de bouger les jambes. C’est également l’une des causes les plus fréquentes d’insomnie. C’est une maladie très répandue, avec une prévalence de presque 15 % dans la population générale. Les maladies multifactorielles comme le SIME sont souvent le résultat de l’évolution d’une composante génétique et d’une composante environnementale. Dans le cadre du SIME, les études d’association génomique ont permis l’identification de 4 variants à effet modéré ou faible. Cependant, ces quatre variants n’expliquent qu’une faible partie de la composante génétique de la maladie, ce qui confirme que plusieurs nouveaux variants sont encore à identifier. Le rôle des déséquilibres génomiques (Copy Number Variations ou CNVs) dans le mécanisme génétique du SIME est à ce jour inconnu. Cependant, les CNVs se sont récemment positionnés comme une source d’intérêt majeur de variation génétique potentiellement responsable des phénotypes. En collaboration avec une équipe de Munich, nous avons réalisé deux études CNVs à échelle génomique (biopuces à SNP et hybridation génomique comparée (CGH)) sur des patients SIME d’ascendance germanique. À l’aide d’une étude cas-contrôle, nous avons pu identifier des régions avec une occurrence de CNVs différentes pour les patients SIME, comparés à différents groupes contrôles. L’une de ces régions est particulièrement intéressante, car elle est concordante à la fois avec des précédentes études familiales ainsi qu’avec les récentes études d’associations génomiques. / Restless Legs syndrome (RLS) is a neurological disorder characterized by the urge to move one’s limbs. It is also one of the most frequent causes of insomnia. The prevalence of RLS is estimated to be around 15% in the general population. Complexes disorders like RLS are often the result of the evolution of genetic and environmental components. For RLS, recent Genome Wide Association Study (GWAS) have identified four variants with mild to moderate effects. However, those four variants explain only a small part of the disease heritability and thus, we expect that many new variants are still to be found. The impact of Copy-Number Variation (CNV) in the genetic mechanism of RLS is still unknown. However, many studies have recently position the CNVs as a significant source of genetic variation potentially responsible of phenotypes. In collaboration with a team from Munich, we conducted two genome-wide CNVs studies (Genome Wide SNP chips and Comparative Genomic Hybridization (CGH)) on RLS patients from Germany. Using cases-controls studies, we identified regions with a different occurrence of CNVs for RLS patients, compared to different groups of controls. One of these regions is particularly interesting, as it has already been identified by both linkage and association studies.

Le syndrome des impatiences musculaires de l’éveil (SIME) est un trouble sensitivo-moteur causant des perturbations du sommeil. Il fut décrit que ce syndrome est plus fréquent chez les sujets vivant avec la sclérose en plaques (SEP) que dans la population générale. L’objectif principal de ce travail est de décrire l’impact du SIME sur le sommeil des sujets avec la sclérose en plaques, comparé au sommeil de sujets avec la SEP, mais sans SIME. Des questionnaires validés et des études de polysomnographie seront utilisés pour réaliser nos objectifs. Les études de PSG de nos 49 sujets révèlent qu’indépendamment de la présence ou de l’absence du SIME, le sommeil des sujets avec la SEP est grandement perturbé. De plus, même en l’absence du SIME, les sujets avec la SEP présentent des mouvements périodiques des jambes. Cette étude démontre que le SIME se manifeste différemment dans la SEP. De plus amples recherches sont nécessaires pour mieux caractériser le SIME en SEP. / The Restless legs syndrome is a sleep related movement disorder. It causes sleep disruptions, affecting sleep quality. It has been described as being more frequent in an MS population than in the general population. Our main objective was to evaluate its impact on MS subjects’ sleep in comparison to MS subjects without RLS Validated questionnaires and polysomnography was used to achieve our objective. PSG studies of our 49 subjects revealed that independently of RLS status, MS subjects experience bad sleep quality, based on various sleep quality markers. Moreover, MS subjects without RLS also have periodic leg movements. This study reveals that RLS in MS manifests itself differently. Further research is needed to characterise RLS in MS.

No description available.

Síndrome das pernas inquietas (SPI) é um distúrbio do sono com alta prevalência entre pacientes em hemodiálise, nos quais o mecanismo é pouco conhecido. Tem sido postulado que alterações do metabolismo mineral e ósseo relacionadasà doença renal crônica, especialmente o hiperparatireoidismo secundário, possam estar relacionadas à patogênese da SPI. Este trabalho teve como objetivo principal avaliar a SPI antes e após paratireoidectomia (PTX). Além disso, avaliamos dados objetivos do sono por meio de polissonografia, com ênfase em apneia do sono. Estudamos prospectivamente 19 pacientes (6 homens, idade 48 ± 11 anos) com hiperparatireoidismo grave pré e pós-PTX. O diagnóstico e o escore de gravidade da SPI foram avaliados de acordo com o Grupo de Estudo Internacional de SPI. Polissonografia pré e pós-PTX forneceu dados de arquitetura do sono, movimentos periódicos de pernas e apneia do sono, medida por meio do índice de apneia-hipopneia/hora de sono (IAH). SPI foi encontrada em 10 pacientes (53%) e se associou com maiores níveis de fosfato (p=0,005) e maior gravidade da dor (p=0,003). Após a PTX, houve redução dos níveis séricos de paratormônio, fosfato e aumento dos níveis de 25-hidroxivitamina D, calicreína-6 e fetuína-A. A PTX reduziu a SPI para 21% (p=0,044), acompanhada por redução nos escores de gravidade e alívio da dor e do prurido. A análise de regressão logística mostrou que o fosfato pré-PTX permaneceu independentemente associado com SPI (OR=7,28; p=0,035), em modelo ajustado para hemoglobina, idade e sexo. Apneia do sono (IAH > 5) foi encontrada em 11 pacientes pré e 14 pós-PTX (63% vs. 74%, p=0,698). Observamos uma correlação entre o IAH e a relação água corporal extracelular/massa magra (r=0,535, p=0,018), assim como correlação com a circunferência do pescoço pré-PTX (r=0,471, p=0,042). Entretanto, não observamos correlação do IAH com o deslocamento de fluidos da perna direita durante o sono (p=0,09), que aumentou significativamente após PTX (p=0,011). Concluímos que a PTX melhora a SPI, com cura completa ou melhora significativa. Se essa melhora está relacionada à diminuição do paratormônio ou do fósforo necessita de investigação adicional. Além disso, o presente estudo confirma a alta prevalência de apneia do sono entre pacientes em hemodiálise, o que não se modificou com a PTX / Restless legs syndrome (RLS) is a sleep disorder with high prevalence among patients on hemodialysis, which underlying mechanism is still unknown. It has been postulate that bone metabolism disorder, especially secondary hyperparathyroidism may be implicated in the pathogenesis. The present study aimed to evaluate RLS before and after parathyroidectomy (PTX). In addition, we evaluated objective data through polysomnography, focusing on sleep apnea. We prospectively evaluated 19 patients (6 men, aged 48 ± 11 years) with severe hyperparathyroidism pre and post-surgical treatment, parathyroidectomy (PTX). RLS diagnosis and rating scale were accessed based on the International RLS Study Group. Polysomnography pre and post PTX provided data on sleep architecture, periodic leg movements of sleep and apnea-hypopnea index (AHI). RLS was observed in 10 patients (53%), and was associated with higher levels of phosphate (p=0,005) and severe pain (p=0,003). After PTX, there was a reduction of serum parathyroid hormone, serum phosphate, and an increase of 25hydroxyvitamin D, kallicrein-6 and Fetuin-A. PTX improved RLS to 21% (p=0,04), accompanied by a decrease in rating scale, in association with alleviation of pain and pruritus. Logistic regression shows that serum phosphate pre PTX remained independently associated with RLS (HR=7,28; p=0,035), in a model adjusted for hemoglobin, age and gender. Sleep apnea (AHI > 5) was found in 11 patients pre and 14 patients post PTX (63% vs. 74%, p=0,698). There was a correlation between AHI and the relation extracellular water/ lean body mass (r=0,535; p=0,018) as well as a correlation between AHI and neck circumference (r=0,471; p=0,042). However, there was no correlation between AHI and spontaneous rostral fluid shift (p=0,09) that has increased after PTX (p=0,011). We concluded that PTX provided an opportunity to improve RLS. Whether RLS may be improved by reduction of serum phosphorus or parathyroid hormone, merits further investigation. In addition, PTX had no impact on the high prevalence of sleep apnea in this population

No description available.