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1.

Introduction

Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes. Mutations in the gene coding for GFAP have been identified as a genetic basis for AxD. However, the mechanism by which these variants produce the disease is not understood.

Development

The most widespread hypothesis is that AxD develops when a gain of function mutation causes an increase in GFAP. However, this mechanism does not explain myelin loss, given that experimental models in which GFAP expression is normal or mutated do not exhibit myelin disorders. This review analyses other possibilities that may explain this alteration, such as epigenetic or inflammatory alterations, presence of NG2 (+) – GFAP (+) cells, or post-translational modifications in GFAP that are unrelated to increased expression.

Conclusions

The different hypotheses analysed here may explain the myelin alteration affecting these patients, and multiple mechanisms may coexist. These theories raise the possibility of designing therapies based on these mechanisms.  相似文献   

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IntroductionThere is little control of cardiovascular (CV) risk factors in secondary prevention after an ischaemic stroke, in part due to a lack of adherence to treatment. The CV polypill may contribute to proper treatment adherence, which is necessary for CV disease prevention. This study aimed to establish how and in what cases the CV polypill should be administered.MethodsA group of 8 neurologists drafted consensus recommendations using structured brainstorming and based on their experience and a literature review.ResultsThese recommendations are based on the opinion of the participating experts. The use of the CV polypill is beneficial for patients, healthcare professionals, and the health system. Its use is most appropriate for atherothrombotic stroke, lacunar stroke, stroke associated with cognitive impairment, cryptogenic stroke with CV risk factors, and silent cerebrovascular disease. It is the preferred treatment in cases of suspected poor adherence, polymedicated patients, elderly people, patients with polyvascular disease or severe atherothrombosis, young patients in active work, and patients who express a preference for the CV polypill. Administration options include switching from individual drugs to the CV polypill, starting treatment with the CV polypill in the acute phase in particular cases, use in patients receiving another statin or an angiotensin ii receptor antagonist, or de novo use if there is suspicion of poor adherence. Nevertheless, use of the CV polypill requires follow-up on the achievement of the therapeutic objectives to make dose adjustments.ConclusionsThis document is the first to establish recommendations for the use of the CV polypill in cerebrovascular disease, beyond its advantages in terms of treatment adherence.  相似文献   

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Introduction

Our aim is to assess the burden on caregivers of patients with Parkinson's disease treated with deep brain stimulation (DBS) compared to those caring for patients at advanced stages and undergoing other treatments. We have also assessed the variables associated with presence of caregiver overload.

Material and methods

We included consecutive patients with Parkinson's disease treated with DBS. Our control group included patients in advanced stages of Parkinson's disease undergoing other treatments. Patients were assessed with the following scales: UPDRS-II, UPDRS-III, UPDRS-IV, Hoehn and Yahr, Schwab & England, Barthel, PDQ-39, MoCA, Apathy Evaluation Scale, HADS, and the abbreviated QUIP. Caregiver burden was evaluated with the Zarit caregiver burden interview and their moods were assessed with the HADS scale.

Results

We included 11 patients treated with DBS and 11 with other treatments. For patients treated with DBS, we observed a better quality of life according to the PDQ-39 questionnaire (P = .028), and a lower score on the HADS anxiety subscale (P = .010). Caregiver overload was observed in 54.5% of the caregivers of patients in both groups (P = 1.000); Zarit scores were similar (P = .835). Caregiver overload was associated with higher scores on the caregiver's Apathy Evaluation Scale (P = .048) and on the HADS anxiety subscale (P = .006).

Conclusion

According to our results, treatment with DBS is not associated with lower caregiver burden. Apathy in patients and anxiety in caregivers are factors associated with the appearance of overload.  相似文献   

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The war in Ukraine is a major poly-traumatic event, which leads to massive population displacements. The question of the evaluation and psychological care of psychotraumatised people is an urgent matter. As many countries hosting refugees are well endowed with a number of psychologists, some of these interested professionals should mobilise themselves and make themselves known to carry out these clinical acts. Priority should be given to trained and experienced psychologists to support victims. The language barrier will have to be overcome. Initially, it would be desirable to make contact or get closer to local and national refugee centres to facilitate these operations. Face-to-face or remote consultations, as developed during the Covid-19 pandemic, are possible. Reinforcements of available and dedicated psychologists, including remotely, from the countries hosting the most refugees are also desirable. The issue of detection, assessment and care of psychologically traumatised people who remained in the Ukrainian territory is probably even more massive. Whether non-combatants or combatants, part of the international psychological community should mobilise, in addition to local colleagues, to provide them with this psychological help. These humanitarian actions would be feasible depending on the evolution of the conflict. Whether it is psychological support for refugees or people still on the Ukrainian soil, models for organizing and coordinating these actions must be carefully thought out and implemented in an evolving way to optimise their effectiveness.  相似文献   

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IntroductionChronic exposure to low doses of ozone causes oxidative stress and loss of regulation of the inflammatory response, leading to progressive neurodegeneration.ObjectiveWe studied the effect of chronic exposure to low doses of ozone on IL-17A concentration and expression in neurons, microglia, astrocytes, and T cells in the rat hippocampus.MethodsWe used 72 Wistar rats, divided into 6 groups (n = 12): a control group (no ozone exposure) and 5 groups exposed to ozone (0.25 ppm, 4 h daily) for 7, 15, 30, 60, and 90 days. We processed 6 rats from each group to quantify IL-17A by ELISA; the remaining 6 were processed for immunohistochemistry (against IL-17A and GFAP, Iba1, NeuN, and CD3).ResultsThe ELISA study data showed a significant increase in IL-17A concentrations in the 7-, 15-, 30-, and 60-day exposure groups, with regard to the control group (P < .05). Furthermore, they indicate that hippocampal neurons were the cells showing greatest immunoreactivity against IL-17A between 60 and 90 days of exposure to ozone; we also observed an increase in activated astrocytes in the 30- and 60-day exposure groups.ConclusionExposure to ozone in rats induces an increase in IL-17A expression, mainly in hippocampal neurons, accompanied by hippocampal astrocyte activation during chronic neurodegeneration, similar to that observed in Alzheimer disease in humans.  相似文献   

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Introduction and objectiveIn clinical practice, assessing patients with Parkinson's disease (PD) is a complex, time-consuming task. Our purpose is to provide a rigorous and objective evaluation of how motor function in PD patients is assessed by neurologists specialising in movement disorders, on the one hand, and by nurses specialising in PD management, on the other.MethodsWe conducted an observational, cross-sectional, single-centre study of 50 patients with PD (52% men; mean age: 64.7  ±  8.7 years) who were assessed between 5 January 2016 and 20 July 2016. A neurologist and a nurse evaluated motor function in the early morning hours using the Unified Parkinson's Disease Rating Scale (UPDRS) parts III and IV and Hoehn & Yahr (H&Y) scale. Tests were administered in the same PD periods (in 48 patients during the ‘off’ time and in 2 patients during the ‘on’ time). Inter-rater variability was estimated with the intraclass correlation coefficient (ICC).ResultsForty-nine patients (98%) were classified in the same H&Y stage by both raters. Assessment times were similar for both raters. ICC for UPDRS-IV and UPDRS-III total scores were 0.955 (P<.0001) and 0.954 (P<.0001), respectively. The greatest variability was found for UPDRS-III item 29 (gait; ICC = 0.746; P<.0001) and the lowest, for item 30 (postural stability; ICC = 0.918; P<.0001).ConclusionsMotor function assessment of PD patients by a trained nurse is equivalent to that made by an expert neurologist and takes the same time to complete.  相似文献   

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IntroductionThere is sufficient evidence on the usefulness of surgery as a therapeutic alternative for patients with drug-resistant epilepsy; however this treatment is underutilized, especially in developing countries.MethodsWe describe the outcomes of epilepsy surgery in 27 paediatric patients at Hospital Baca Ortiz in Quito, Ecuador. Our analysis considered the following variables: reduction in seizure frequency, surgery outcome according to the Engel classification, improvement in quality of life, and serious complications due to surgery.Results21 corpus callosotomies and 6 resective surgeries were performed. The mean seizure frequency decreased from 465 per month before surgery to 37.2 per month thereafter (p<.001); quality of life scale scores increased from 12.6 to 37.2 (p<.001), and quality of life improved in 72.7% of patients. Regarding resective surgery, 2 patients with temporal lobe epilepsy and one with posterior quadrant epilepsy achieved Engel class IA, and one patient undergoing hemispherotomy due to Rasmussen encephalitis achieved Engel class IIA. Two patients underwent surgery for hypothalamic hamartoma: one achieved Engel III and the other, Engel IA; however, the latter patient died in the medium term due to a postoperative complication. The other major complication was a case of hydrocephalus, which led to the death of a patient with refractory infantile spasms who underwent corpus callosotomy.ConclusionsFavourable outcomes were observed in 92.5% of patients.  相似文献   

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Objectives

Relatively little known in psychiatry, spa psychiatric medicine is an original approach, which has started to form the subject of thorough assessments. It concerns 3 week spa therapy stays in practice, the patient being totally free and self-sufficient, though having to go to 3 to 4 prescribed daily bathing sessions and to the medical and psychotherapy follow-up provided within the scope of their medical care. Since the beginning of the years 2000, Spa Medicine has been subject to studies that have better shown the outline and its potential application areas. We present you here, through a review of the literature from these past 30 years, the main elements of scientific proof of its therapeutic activity and as a result, its best documented indications in psychiatry. Therefore, the article is stated by chapter, indication by indication.

Results

The area which brings the best level of proof relates to generalised anxiety disorder. One study called STOP-TAG (Dubois O, Salomon R, Germain C, et al. 2010) (Salamon R, Germain C, Olié JP, Dubois O, 2008) supervised by 2 Inserm units: ISPED in Bordeaux II and Sainte-Anne, brought the proof of a superior efficacy of the therapy compared to Paroxetine over a period of 8 weeks (5 weeks after the end of the course of treatment). This result is supported by other less thorough works that all feed the first initial study. As a consequence, an Austrian study became interested in the effects of spa bathing observed over 3 weeks in burn-out situations. The results show the efficacy of this medical care at the end of the treatment and 3 months afterwards. Subsequently, the interest in a psycho-educative programme carried out in spa therapy for anxiety patients and chronic benzodiazepine consumers, was studied in addiction. The SPECTh study (De Maricourt P, Gorwood P, Hergueta T, Dubois O. et al. 2016) allowed to follow 70 patients, therapeutically stable and motivated in their stopping. Six months after their treatment, 41.42 % of these patients had ceased all consumption and 80 % had reduced by half, whereas 16 % were in a position of therapeutic failure. This area of addiction has not been subject to other studies particularly concerning excessive alcohol consumption or of ta (the indication of which seems by the way less obvious) or tobacco. If few studies have sought to evaluate the significance of Spa Medicine in depressive disorders, many works have brought out the doubtless indirect impact of this practice on reactional depressive states, especially painful chronic states and on a generalised anxiety state. Likewise, it is above all the spa rheumatologists’ works that have brought solid proof of the efficacy of spa therapy and bathing in affective disorders (anxiety, depressive disorder) associated with painful chronic states (fibromyalgia, chronic low back pain, after breast cancer…). As far as the mechanism of action is concerned, numerous hypotheses exist. This is not the place to present them all. However, the result of an original and important pre-study is presented here that highlights the interest of an optimal “letting go” as statistical indicator of a clinical improvement of anxiety in the long run. If the notion of letting go remains to be defined scientifically, it comprises a notion of non-resistance, the giving up of the patient's will to want to control the events, which makes this therapy different from psychological approaches, that are more intellectual directing the patient towards a mastery effort and self and thought control. This specificity in the spa approach by “non-mastered giving up” of its defences and by returning to self, thanks to the taking up again of pleasant physical sensations, often forgotten, seems to be one of the forms of action, psychologically and fundamentally in spa therapy.

Conclusion

Situated at the interface of general medicine and psychiatry, and between ambulatory medicine and hospital medicine, spa medicine is therefore essentially intended for anxiety disorders, adapting reactional disorders and clinical situations such as severance from Benzodiazepines or psycho-education. Centred on the spa bathing practice, it is also based on the quality of the relation between doctor and patient, on the setting up of a structuring, anxiolytic medicalised environment. Furthermore, these past few years, examples of psycho-educative medical care inspired from cognitive and behavioural therapies have been developed at the heart of the “psy spa resorts”. It is important to appreciate the effort carried out by these spa centres, far away from schools of medicine, that make the effort of bringing thorough scientific proof validating their interest in psychiatry, what is more in areas (anxiety, Benzodiazepine severance, chronic pain, burn-out…) where solutions and therapeutic alternatives are not exactly legion.  相似文献   

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ObjectivesThis study aimed to determine the incidence and trends of cerebrovascular disease (CVD) in the healthcare district of Lleida.Material and methodsWe performed a population-based prospective cohort study including the entire population of the healthcare district of Lleida (440 000 people). Information was gathered from the minimum basic data set from the emergency department and hospital discharges for the period from January 2010 to December 2014. All types of stroke were included. We evaluated crude and age-standardised rates using the world population as a reference. Patients without neuroimaging confirmation of the diagnosis were excluded.ResultsWe identified 4397 patients: 1617 (36.8%) were aged 80 years or over; 3969 (90.3%) presented ischaemic stroke, and 1741 (39.6%) were women. The crude incidence rate ranged from 192 (95% confidence interval [CI], 179-205) to 211 (95% CI, 197-224) cases per 100 000 population, in 2012 and 2013, respectively. Age-standardised rates ranged from 93 (95% CI, 86-100) to 104 (95% CI, 96-111) cases per 100 000 population, in 2012 and 2013, respectively. For all years, incidence rates increased with age, and were significantly higher among men than among women.ConclusionThe impact of CVD in Lleida is comparable to that observed in other European regions. However, population ageing induces a high crude incidence rate, which remained stable over the five-year study period.  相似文献   

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IntroductionEpilepsy is most frequent in children and elderly people. Today's population is ageing and epilepsy prevalence is increasing. The type of epilepsy and its management change with age.MethodsWe performed a retrospective, observational study comparing patients aged ≥ 65 years with epilepsy diagnosed before and after the age of 65, and describing epilepsy characteristics and comorbidities in each group.ResultsThe sample included 123 patients, of whom 61 were diagnosed at < 65 years of age (group A), 62 at ≥ 65 of age (group B). Sex distribution was similar in both groups, with 39 men (62.9%) in group A and 37 (60.7%) in group B. Mean age was 69.97 ± 5.6 years in group A and 77.29 ± 6.73 in group B. The most common aetiology was unknown in group A (44.3%, n = 27) and vascular in group B (74.2%, n = 46). History of stroke was present in 12 patients from group A (19.7%) and 32 (51.6%) in group B. Antiepileptic drugs were prescribed at lower doses in group A. Statistically significant differences were found between groups for history of ischaemic stroke, cognitive impairment, psychiatric disorders, and diabetes mellitus; degree of dependence; and number of antiepileptic drugs.ConclusionAge of onset ≥ 65 years is closely related to cardiovascular risk factors; these patients require fewer antiepileptic drugs and respond to lower doses. Some cases initially present as status epilepticus.  相似文献   

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ObjectiveThe main objective of our work is to revise our neurosurgical experience in pregnant patient and to carry out a revision of the related literature in order to optimize the neurosurgical handling of these kind of patients.MethodRetrospective study between august 1993 and June 2010. We included patients who were pregnant at the time and who presented any trace of cranial neurosurgical or spinal disease.ResultsThe research includes the cases of 12 patients aged between 17 and 37 years old with an average age of 28.8 years old. The average gestation period was of 24.17 weeks, finding 50% of the patients within their third three-month period of pregnancy at the moment of diagnosis, 25% in their second three-month period and the remaining 25% in their first three-month period. The mean follow-up duration for this series was 84 months. 4 of them presented brain vascular lesions, 5 presented brain tumor lesions, 1 of them presented Chiari malformation, one lumbar disc herniation and 1 patient suffered from traumatic intracraneal hemorrhage. 8 of the 12 patients were subjected to neurosurgical procedures under general anesthetic, 2 for aneurysm embolizations and 2 for conservative treatments. Between the neurosurgical procedures 6 craniotomies were done, of wich 4 were to resection of the tumor and 2 for aneurysm clippings. There were done a transesfenoidal approach and a lumbar microdiscectomy. 2 of the 6 patients given craniotomies required external ventricular drainage before the operation. 5 elective cesareans were done in the group of patients given the craniotomies whilst of the rest the pregnancy was allowed to bring to term for reasons of pulmonary maturity. In our patients there were no cases of therapeutic abortion. There was found no morbidity no mortality neither in the mother nor in the fetus related to surgery.ConclusionsIn our experience with pregnant patients who suffered from neurosurgical lesion and in the experience we got from the revision of the related literature, the surgery of intracranial lesions is well tolerated by the mothers and the fetus. It must though be considered, the possibility of labor through cesarean depending on the fetus’ lung maturity.  相似文献   

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IntroductionIn recent years, the scientific evidence supporting a relationship between the microbiota and various diseases has increased significantly; this trend has also been observed for neurological diseases. This has given rise to the concept of the gut-brain axis and the idea of a relationship between the gut microbiota and several neurological diseases whose aetiopathogenesis is yet to be clearly defined.DevelopmentWe review the role of the gut microbiota in the gut-brain axis and analyse those neurological diseases in which alterations in the gut microbiota have been described as a result of human studies: specifically, Parkinson's disease, Alzheimer disease, amyotrophic lateral sclerosis, neuromyelitis optica, and multiple sclerosis.ConclusionsThe body of evidence linking the gut microbiota to various neurological diseases has grown considerably. Several interesting studies show a relationship between the gut microbiota and Parkinson's disease, Alzheimer disease, neuromyelitis optica, and multiple sclerosis, whereas other controversial studies implicate it in amyotrophic lateral sclerosis. Many of these studies place considerable emphasis on modulation of inflammation, particularly by bacteria capable of producing short-chain fatty acids.Despite these encouraging results, many questions remain, and there is a need to demonstrate causality, determine the role of fungi or viruses, and research possible treatment through diet, probiotics, or faecal microbiota transplantation.  相似文献   

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