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BACKGROUND: Since 2015, mechanical thrombectomy (MT) is indicated as a treatment for patients with large vessel occlusion (LVO) at the acute phase of ischemic stroke. However, the number of stroke patients eligible for MT is poorly known. OBJECTIVE: The objective of our study was to estimate the number of patients eligible for thrombectomy within the first 24hours of an ischemic stroke, based on the clinical National Institute of Health Stroke Scale (NIHSS). METHOD: Our study concerned all ischemic strokes which occurred between January 2013 and December 2016 recorded in the population-based Brest Stroke Registry (BSR). Based on positive predictive value and negative predictive value from articles evaluating the performance of a defined NIHSS threshold to identify LVO, we first estimated the frequency of patients with LVO and then the frequency of patients eligible for MT depending on pre-stroke modified Rankin score (mRS). Our results were extrapolated to regions of metropolitan France. Two scenarios were considered: one called "stringent criteria" with mRS ≤1 and one called "real-life" criteria with mRS ≤2. RESULT: We analyzed data from 2,025 ischemic strokes with symptom onset ≤24hours. No statistical difference between patient characteristics according to the time of hospital admission (≤6H vs. 6-24H) was observed. Based on NIHSS scores, between 23.90% and 44.20% of ischemic strokes admitted within the first six hours had LVO clinical characteristics. Among them, 14.53% to 26.87% met the ``stringent eligibility'' criteria for MT and 16.9 to 31.25% for ``real-life'' criteria. Eligible patients represented 6.32% to 11.70% of all ischemic strokes, irrespective of admission time. In France, 75 to 162 persons per million inhabitants per year were eligible for endovascular therapy, depending on including criteria. Based on activity levels recorded by the French Neuroradiology Society (SFNR) in 2018, the estimated needed increase in MT showed a heterogeneous pattern region-by-region, with the greatest need in Brittany, Pays de la Loire, and Corsica. CONCLUSION: Based on NIHSS, our study provides coherent information concerning the estimated number of MT procedures to be performed in France: 4,877 to 10,494 ischemic strokes would be eligible each year in metropolitan France compared to the 6,596 thrombectomy procedures actually performed in 2018. Depending on the region, an estimated 10-20% to 90-100% increase in MT activity would be necessary to meet patient needs. These data suggest that there is still room for improvement in thrombectomy activity, particularly in certain regions of France, to allow equal access to MT to the entire French population.
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Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/epidemiologia , Isquemia Encefálica/cirurgia , Humanos , Sistema de Registros , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/cirurgia , Trombectomia/métodos , Resultado do TratamentoRESUMO
During limb development, the spatio-temporal expression of sonic hedgehog (SHH) is driven by the Zone of polarizing activity Regulatory Sequence (ZRS), located 1 megabase upstream from SHH. Gain-of-function mutations of this enhancer, which cause ectopic expression of SHH, are known to be responsible for congenital limb malformations with variable expressivity, ranging from preaxial polydactyly or triphalangeal thumbs to polysyndactyly, which may also be associated with mesomelic deficiency. In this report, we describe a patient affected with mirror-image polydactyly of the four extremities and bilateral tibial deficiency. The proband's father had isolated preaxial polydactyly type II (PPD2). Using Sanger sequencing, a ZRS point mutation (NC_000007.14, g.156584153A>G, UCSC, Build hg.19) was only identified in the patient. However, pyrosequencing analysis enabled the detection of a 10% somatic mosaic in the blood and saliva from the father. To our knowledge, this is the first description of a ZRS mosaic mutation. This report highlights the complexity of genotype-phenotype correlation in ZRS-associated syndromes and the importance of detecting somatic mosaicism for accurate genetic counselling.
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Anormalidades Múltiplas/genética , Anormalidades Congênitas/genética , Ectromelia/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Proteínas Hedgehog/genética , Disostose Mandibulofacial/genética , Mosaicismo , Nariz/anormalidades , Mutação Puntual , Anormalidades Múltiplas/metabolismo , Adulto , Anormalidades Congênitas/metabolismo , Análise Mutacional de DNA , Ectromelia/metabolismo , Deformidades Congênitas do Pé/metabolismo , Deformidades Congênitas da Mão/metabolismo , Humanos , Lactente , Recém-Nascido , Masculino , Disostose Mandibulofacial/metabolismo , Mucosa Nasal/metabolismo , LinhagemRESUMO
Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss-of-function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype-phenotype correlations. Most mutation-negative patients were phenotypically indistinguishable from patients with mutations, suggesting genetic heterogeneity.
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Predisposição Genética para Doença/genética , Haploinsuficiência/genética , Disostose Mandibulofacial/genética , Fenótipo , Proteínas de Ligação a RNA/genética , Sequência de Bases , Feminino , Genes Dominantes/genética , Humanos , Masculino , Disostose Mandibulofacial/patologia , Dados de Sequência Molecular , Mutação/genética , Fatores de Processamento de RNA , Análise de Sequência de DNARESUMO
Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
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Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Genes Duplicados , Deformidades Congênitas dos Membros/genética , Tíbia/anormalidades , Cromossomos Humanos Par 17/genética , Feminino , Humanos , Deformidades Congênitas dos Membros/fisiopatologia , Masculino , Linhagem , Fenótipo , Tíbia/fisiopatologiaRESUMO
There are many possibilities for nasal skin defect reconstruction. The purpose of this article is to highlight the important points to respect in order to achieve aesthetic results. The principles that must be observed in nasal reconstruction are recalled. The most interesting techniques are detailed and illustrated with clinical cases.
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Procedimentos Cirúrgicos Dermatológicos/métodos , Neoplasias Nasais/cirurgia , Neoplasias Cutâneas/cirurgia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Retalhos CirúrgicosAssuntos
Doenças do Desenvolvimento Ósseo/genética , Luxação Congênita de Quadril/genética , Quadril/anormalidades , Ísquio/anormalidades , Patela/anormalidades , Proteínas com Domínio T/genética , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Criança , Pré-Escolar , Feminino , Quadril/fisiopatologia , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/epidemiologia , Luxação Congênita de Quadril/fisiopatologia , Humanos , Ísquio/fisiopatologia , Masculino , Pessoa de Meia-Idade , Mutação , Patela/fisiopatologia , Linhagem , Fenótipo , Adulto JovemRESUMO
BACKGROUND: With recent conservative strategies, prognosis of patients with desmoid-type fibromatosis (DTF) is about function preservation. We analyzed the long-term quality of life (QoL) of pediatric patients with DTF. METHODS: All French young patients (<21years) treated between 2005 and 2016 for a DTF in the EpSSG NRSTS-05 study were analyzed. A first wait-and-see strategy was recommended. Patients' QoL was analyzed with the internationally validated Child Health Questionnaire (CHQ). We focused on the relevant subscales scores: physical functioning (PF), role social limitations physical (RP), bodily pain (BP), general health perception (GH) and physical (PhS) and psychosocial (PsS) summary measures. RESULTS: Among the 81 patients, 52 families answered the CHQ (median delay since diagnosis = 6.2years; min2.2-max13.3 years). Median age at diagnosis was 11.5 years. Primary site: limbs (52%), head/neck (27%), or trunk (21%). Five year-Progression Free Survival was 39.1% (95%CI: 27.7-50.5%). As initial management for these 52 patients, 30 patients were first observed (57%), 13 had surgery (25%) and 9 received chemotherapy (18%). Total burden of therapy was exclusive surgery (9pts/18%), exclusive chemotherapy (18pts/35%), surgery + chemotherapy (13pts/25%), chemotherapy + radiotherapy (1 pt), surgery + chemotherapy + radiotherapy (1 pt), wait and see (10 pt). Regarding the parent forms, patients have significant lower PF (86.0vs.96.1; p = 0.03), RP (82.0vs.93.6; p = 0.04), GH (60vs.73; p < 0.005) and PhS (46.2 vs.53; p = 0.02) scores compared to healthy population. Comparison of QoL subscales scores according to initial strategy (wait-and-see vs.surgery/chemotherapy) did not reveal any difference (PF = 87.3vs.84.9; p = 0.80/RP = 83.4vs.78.7; p = 0.72/BP = 78.9vs.78.2; p = 0.95/GH = 59.7vs60; p = 0.97). Similar results were found using the children or adult forms. CONCLUSIONS: Initial wait-and-see strategy does not affect long term functional impairment.
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Fibromatose Agressiva/terapia , Qualidade de Vida , Conduta Expectante , Adolescente , Antineoplásicos/uso terapêutico , Dor do Câncer/etiologia , Criança , Pré-Escolar , Terapia Combinada , Feminino , Fibromatose Agressiva/complicações , Nível de Saúde , Humanos , Lactente , Masculino , Desempenho Físico Funcional , Intervalo Livre de Progressão , Radioterapia , Participação Social , Procedimentos Cirúrgicos Operatórios , Inquéritos e QuestionáriosAssuntos
Carcinoma de Células Escamosas/diagnóstico , Guias de Prática Clínica como Assunto , Lesões Pré-Cancerosas/diagnóstico , Neoplasias Cutâneas/diagnóstico , Carcinoma de Células Escamosas/epidemiologia , Carcinoma de Células Escamosas/patologia , Humanos , Lesões Pré-Cancerosas/epidemiologia , Lesões Pré-Cancerosas/patologia , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologiaRESUMO
Since 1994, a new prevention policy has been introduced in France. Over that period, eleven regions have conducted suicide prevention programs. It is possible today to assess the effects of these programs in retrospect. We have compared mortality data of the experimental regions to those of the other regions. We observed a significant difference in favour of the regions with suicide prevention programs. Results are discussed in relation with the achieved program content.
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Promoção da Saúde/métodos , Avaliação de Programas e Projetos de Saúde , Saúde Pública , Regionalização da Saúde/organização & administração , Prevenção do Suicídio , Feminino , França , Humanos , Masculino , Programas Nacionais de Saúde , Suicídio/estatística & dados numéricosRESUMO
INTRODUCTION: The present study sought to identify factors affecting mortality beyond 28 days in ischaemic stroke patients with whatever ischaemic mechanism. PATIENTS AND METHODS: A prospective population-based registry was set up in Brest County, Brittany, France. Demographic data, clinical presentation, vascular risk factors and mortality were collected from January 2008 to December 2012. At "home without help" was used as a surrogate marker for low Rankin (0-1) at discharge from the hospital. IS was classified on the TOAST classification. Overall mortality was calculated using the Kaplan-Meier method. Multivariate analysis of mortality beyond 28 days was implemented, using a Cox model, on significant risk factors identified on univariate analysis. RESULTS: About 3024 IS cases were followed up beyond 28 days. Overall mortality beyond 28 days was 38.49% at 60 months. On multivariate analysis, age (10 years: HR = 1.84; [1.66-2.02]), coronary artery disease (HR = 1.28; [1.05-1.56]), cardiac arrhythmia (HR = 1.36; [1.11-1.67]), peripheral artery disease (HR = 1.66 [1.29-2.13]) and incomplete assessment (HR = 1.39; [1.12-1.74]) were associated with higher mortality risk, whereas female gender (HR = 0.80; [0.68-0.94]), high Glasgow Coma Scale score (GCS > 12) (HR = 0.58; [0.45-0.76]), lacunar syndrome (HR = 0.82; [0.68-0.99], being 'at home without help' (HR = 0.50; [0.41-0.59]) and negative assessment (HR = 0.75; [0.58-0.97], compared to cardioembolism) were associated with better survival probability. DISCUSSION: Initial clinical status, prior cardiovascular diseases and age was associated with more risk of death: an increment of 10 years almost doubled mortality. Women had more survival probability than men, controlling for age. Ischaemic stroke mechanisms were predictors of late 5-year mortality. CONCLUSION: Patients with negative assessment, i.e. representing truly cryptogenic ischaemic stroke, had the best survival probability probably due to fewer atherosclerotic markers.
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The government orders of April 1996 were devoted to the second generation Regional Health Organisation Plans (SROS II) as health planning levers. One of the main issues at stake in their development was the need to favour an overall management of the regional public health priorities and to involve the system's clients in them. In order to better understand the opinions of the clients themselves and the opinions of the health planning professionals on the participation of the clients in SROS II, a national sample was selected in order to take into account the diversity of regional experiences, the different institutional linkages and the unity of both the place and the problem at hand. Two series of 42 interviews conducted at 6 month intervals were recorded and a thematic analysis according to a validated interview grid was carried out by the Analytical Laboratory for Social and Health Policy (LAPSS) at the National School of Public Health (ENSP). This survey shows that the first attempt to include the participation of the system's clients in the health planning efforts by the SROS II was appreciated and recognised as legitimate and useful, yet suffered from a lack of legibility and of a clear definition of its role. Other participation mechanisms remain to be investigated and explored as they could be enlarged in the next plan, in which the clients could become a separate entity of actors as an entirely independent group.
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Relações Comunidade-Instituição , Organizações de Planejamento em Saúde , Saúde Pública , França , Política de Saúde , Humanos , Entrevistas como Assunto , Objetivos OrganizacionaisRESUMO
This article aims to identify the optimal conditions necessary for the implementation of public health interventions. In order to approach this question, the authors relied upon a review of the health promotion literature and on three evaluation reports on the processes undertaken within the framework of French regional health programmes and their British equivalent counter-parts. Based on the synthesis of this work, the article puts forth recommendations for carrying out public health interventions at the national, regional and local level. It concludes by offering some structural proposals for improving health programme implementation.
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Promoção da Saúde , Programas Nacionais de Saúde/normas , Saúde Pública , Inglaterra , França , Política de Saúde , Humanos , Resultado do TratamentoRESUMO
Using a double fluorescence retrograde labeling procedure, the present study sought to determine the degree to which basal forebrain and mesopontine tegmental neurons have axons that innervate both the reticular thalamic nucleus and the cerebral cortex. Immunofluorescence for choline acetyltransferase, somatostatin, and the calcium-binding protein parvalbumin was also performed to elucidate the neurochemical identity of basal forebrain and mesopontine tegmental inputs to the reticular thalamic nucleus. A significant portion (10-15%) of neurons in the basal forebrain and mesopontine tegmentum that were retrogradely labeled from the reticular thalamic nucleus were also found to be retrogradely labeled from the cortex. Many of these neurons stained positively for choline acetyltransferase. Of the basal forebrain neurons retrogradely labeled from the reticular thalamic nucleus, approximately 20% were found to be immunoreactive to choline acetyltransferase, whereas none was stained for somatostatin. A larger portion (up to 50%) of the basal forebrain neurons that were retrogradely labeled from the reticular thalamic nucleus were parvalbumin-immunoreactive, and some of these were also retrogradely labeled from the cortex. These results suggest that a subpopulation of cholinergic and non-cholinergic neurons in the basal forebrain and the mesopontine tegmentum may influence simultaneously the activity of neurons in the reticular thalamic nucleus and the cerebral cortex.
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Colina O-Acetiltransferase/metabolismo , Lobo Frontal/anatomia & histologia , Proteínas Musculares/metabolismo , Parvalbuminas/metabolismo , Somatostatina/metabolismo , Tegmento Mesencefálico/anatomia & histologia , Núcleos Talâmicos/anatomia & histologia , Animais , Mapeamento Encefálico , Imuno-Histoquímica , Masculino , Ratos , Ratos EndogâmicosRESUMO
Among the many procedures proposed for re-establishing bone continuity in cases with a mobile foot of the stapes, an effective solution has been found to be the employ of a malleus-foot of the stapes prosthesis. Austins prosthesis is surtable in such cases, but must be modified to adapt to different situations and to avoid complications. Surtably adapted in this way, good results can be obtained in the sequelae of chronic otitis and injuries.
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Orelha Média/cirurgia , Implantes Cocleares , Humanos , Martelo/cirurgiaRESUMO
The reconstruction of the nasal tip give difficulties. The nasal myocutaneous flap seems a good solution. We have studied twenty fresh corpses after injection of coloured latex and barium. This flap and its vascular pedicle were constant. We describe the technique. We used this flap on thirteen patients. The indications are the cutaneous lesions of the middle of the nasal tip or the nostrils. The results are excellent because this flap respects the anatomical unit of the nose. The morphological and esthetical results are excellent.
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Músculos Faciais/cirurgia , Nariz/cirurgia , Procedimentos de Cirurgia Plástica , Retalhos Cirúrgicos , Angiografia , Humanos , Fibras Musculares Esqueléticas , Nariz/irrigação sanguínea , Resultado do TratamentoRESUMO
The article addresses the question how public decision makers can manage, through resources allocations, to reduce health inequalities between regions. After a description of the British experience, the author suggests a simplified method for determining the gap between the effective allocation of resources and that which would be optimal. Application to France is proposed.
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Diretrizes para o Planejamento em Saúde , Acessibilidade aos Serviços de Saúde , Área Carente de Assistência Médica , Inglaterra , França , Planejamento em Saúde , Recursos em Saúde , Necessidades e Demandas de Serviços de Saúde , HumanosRESUMO
For various reasons, including the population policies of the former Socialist countries, abortion is much more frequent than contraception in Central and Eastern Europe. The contrary occurs in Western countries. In the current context, countries in Central and Eastern Europe should improve abortion services and this should be a priority target in their health policy. The study does not detect a clear-cut advantage as concerns substituting contraception to abortion in these countries in terms for instance of reducing maternal mortality. In fact a health policy favouring contraception instead of abortion is firstly inspired by political or ethical reasons. If implemented in Central and Eastern Europe, it would require several decades to bear evident results.
PIP: Although most countries of Europe have total fertility rates of under 2, these low rates are achieved in western and northern Europe primarily through widespread contraceptive usage with abortion serving as a backup, while in eastern Europe abortion plays the primary role. In eastern European countries, access to abortion preceded diffusion of modern contraception. When modern contraceptive methods became available in the 1960s, they did not reach the eastern European countries because of the lack of communication between Communist societies and the West. Erroneous ideas about the dangers of modern methods have persisted, while abortion is viewed as an everyday occurrence. Public opinion concerning modern methods is generally unfavorable. The availability of safe legal abortions in western Europe has resulted in a very low rate of abortion mortality, around 0.5 deaths per 100,000 abortions. In eastern Europe, abortion mortality rates range from 1 to 10/100,000 abortions, and infertility resulting from abortion is common. Illegal abortions persist because of poor accessibility of quality services. The psychological cost to couples of disorders resulting from abortion is difficult to evaluate but surely considerable. A comparison of the public health results of improving conditions of abortion in eastern Europe while continuing to limit contraceptive use to the traditional methods, or of providing modern contraception, indicates that there is no decisive advantage in favor of modern contraception. The manpower and thus the financial requirements would be less for the policy of providing safe abortions without modern contraception. The major argument against abortion is ethical, not financial or health related. Hungary and the German Democratic Republic have demonstrated that a change from fertility control through abortion to fertility control through contraception is feasible. Such a change would require a very large investment in services and manpower, and would not be fully achieved for many years.
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Aborto Induzido , Anticoncepção , Europa Oriental , Política de Planejamento Familiar , Serviços de Planejamento Familiar , Feminino , Humanos , Gravidez , Saúde PúblicaRESUMO
The dependency of elderly persons became recently an autonomous issue beside the problem of the pensions or the disability. We can explain this late apparition in the field of social policy by a strong attention paid to problems of the pensions and the lack of interest to the new concept of disability. But the main reason is the disagreement on two main questions. There is no common vision on the resources that the community must devote to help dependent people and their family. Moreover there is no agreement on the quality assurance of the services provided. The public debate for the first law was focused on the measure of the dependency and its budget. The second, in a context of growth of the number of dependent people, must integrate the need of support for an increasing number of families, and the condition for production of care of quality.
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Idoso , Cuidadores/legislação & jurisprudência , Pessoas com Deficiência/legislação & jurisprudência , Assistência a Idosos , Atividades Cotidianas , Idoso de 80 Anos ou mais , Cuidadores/economia , Família , Feminino , França , Nível de Saúde , Humanos , Longevidade , Masculino , Assistência a Idosos/economia , Assistência a Idosos/legislação & jurisprudênciaRESUMO
PIP: There is no one standardized family planning program evaluation method. Two different approaches are: an evaluation balance-sheet, the objective of which is the most complete possible evaluation of activities and results of family planning services; and an integrated evaluation of a project constructed around objectives and planned activities. The latter evaluation can be on-going. Diagnostic evaluation corresponds to the evaluation of a project's operation at a given moment. It addresses contraceptive prevalence, continuity of service use, and description of clients participating in family planning programs. Diagnostic evaluation methods include calculation of couple years of protection, contraceptive usage rates, continuation rates measured by the life table method, and a study of client characteristics. All the methods using data routinely collected at the time of follow-up and on program management comprise formative or continual evaluation. Programs put together an information system specifically designed to be familiar with program management. Continual evaluations consist of cost studies and quality of care studies. An evaluation allowing program managers to see if the predetermined objectives were achieved and to produce a decision on the program is referred to as a project evaluation or summative evaluation. A simple project evaluation occurs after implementing an intervention. The control-intervention evaluation records differences between a control group and an intervention group. For example, a study of youth behavior change in Baltimore found that, after 28 months of the intervention (information meetings and making contraceptives available in some schools), the pregnancy rate decreased 30% in the target schools and increased 60% in the control schools. There are several questions to answer before embarking on an evaluation, including: what are the available resources for the evaluation?^ieng