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BACKGROUND: Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S. This study aims to evaluate the number of undetected sickle cell anemia newborns by a screening policy targeting only newborns from mothers in whom a sickling test would have been positive. METHODS: From 2010 to 2012, in Bamako, Mali, West Africa, 2489 newborns were routinely screened for sickle cell anemia at the umbilical cord or heel by isoelectrofocusing and, if necessary, by high-performance liquid chromatography. These newborns were born from 2420 mothers whose hemoglobin was studied by isoelectrofocusing. The data was recorded and processed using Excel software version 14.0.0. We calculated the frequency of the sickle cell gene in mothers and newborns as well as the number of SCA newborns from heterozygous or C homozygous mothers. RESULTS: Of the 2489 newborns, 16 had sickle cell anemia (6 SS and 10 SC); 198 had the sickle cell trait; 139 were AC and 1 was CC. Of the 10 newborns with SC profile, 3 were born from mothers not carrying the S gene but the C gene of hemoglobin and in which an Emmel test would have been negative. CONCLUSION: Targeted newborn screening, based on the results of sickling test in pregnant women, would misdiagnose more than one of six sickle cell anemia newborns who would not benefit from early care. Cost-effectiveness studies of routine newborn screening for sickle cell anemia should lead to a better screening strategy in contexts where hemoglobin S and other hemoglobin defect genes coexist.
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Anemia Falciforme/diagnóstico , Testes Hematológicos/métodos , Triagem Neonatal/métodos , Vigilância da População/métodos , Complicações Hematológicas na Gravidez/diagnóstico , Diagnóstico Pré-Natal , Adulto , África Ocidental/epidemiologia , Anemia Falciforme/sangue , Feminino , Testes Hematológicos/normas , Testes Hematológicos/estatística & dados numéricos , Hemoglobina Falciforme/análise , Humanos , Recém-Nascido , Limite de Detecção , Masculino , Mali/epidemiologia , Mães , Valor Preditivo dos Testes , Gravidez , Complicações Hematológicas na Gravidez/sangue , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normasRESUMO
OBJECTIVE: To assess the risks of uterine rupture, maternal and perinatal outcomes associated with a trial of labour (TOL) after one previous caesarean were compared with having an elective repeated caesarean section (ERCS) without labour in low-resource settings. DESIGN: A prospective 4-year observational study. SETTING: Senegal and Mali. SAMPLE: A cohort of 9712 women with one previous caesarean delivery. METHODS: Maternal and perinatal outcomes were compared between 8083 women who underwent a TOL and 1629 women who had an ERCS. Perinatal and maternal outcomes were then stratified according to the presence or absence of risk factors associated with vaginal birth after caesarean section. These outcomes were adjusted on maternal, perinatal and institutional characteristics. MAIN OUTCOME MEASURES: The risks of uterine rupture, maternal complication and perinatal mortality associated with TOL after one previous caesarean as compared with ERCS, RESULTS: The risks of hospital-based maternal complication [adjusted odds ratio (OR) 1.52; 95% CI 1.09-2.13; P = 0.013] and perinatal mortality (adjusted OR 4.53; 95% CI 2.30-9.92; P < 0.001) were significantly higher in women with a TOL compared with women who had an ERCS. However, when restricted to low-risk women, these differences were not significant (adjusted OR 0.90, 95% CI 0.55-1.46, P = 0.68, and adjusted OR 1.13; 95% CI 0.75-1.86; P = 0.53, for each outcome, respectively). Uterine rupture occurred in 25 (0.64%) of 3885 low-risk women compared with 70 (1.66%) of 4198 women with unfavourable risk factors. CONCLUSION: Low-risk women have no increased risk of maternal complications or perinatal mortality compared with women with one or more unfavourable factors. TWEETABLE ABSTRACT: Low-risk women have a lower risk of maternal complications or perinatal mortality compared with high-risk women.
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Recesariana , Prova de Trabalho de Parto , Nascimento Vaginal Após Cesárea , Adulto , Recesariana/efeitos adversos , Recesariana/métodos , Recesariana/estatística & dados numéricos , Feminino , Humanos , Recém-Nascido , Mali/epidemiologia , Razão de Chances , Mortalidade Perinatal , Gravidez , Resultado da Gravidez/epidemiologia , Gravidez de Alto Risco , Estudos Prospectivos , Senegal/epidemiologia , Ruptura Uterina/etiologia , Ruptura Uterina/mortalidade , Nascimento Vaginal Após Cesárea/efeitos adversos , Nascimento Vaginal Após Cesárea/métodos , Nascimento Vaginal Após Cesárea/estatística & dados numéricosRESUMO
A growing number of studies require the purification of multiple proteins simultaneously and the development of simple economical high-throughput purification methods is essential. We have tested the purification of two related proteins in a variety of conditions to benchmark the semi-automated affinity chromatography method for the QIAcube that we have developed. We find that this new QIAcube method can successfully purify milligram quantities of proteins with minimal user involvement and performs as well as methods based on gravity. The method could easily be adapted to other chromatography resins and should prove to be a versatile method for optimizing protein expression or purification conditions for multiple proteins while obtaining sufficient amounts for subsequent biochemical analyses.
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Proteínas/análise , Proteínas/química , Proteômica/métodos , Centrifugação/métodos , Cromatografia de Afinidade/métodos , Expressão Gênica , Ensaios de Triagem em Larga Escala , Biossíntese de ProteínasRESUMO
BACKGROUND: Schistosomiasis control programs typically launch with district-level, school-based preventive chemotherapy (PC). Recent World Health Organization recommendations are to shift to community-wide treatment where schistosomiasis prevalence is >10%. Simultaneously there is a push to move to sub-district PC to prioritize communities in need of treatment and alleviate the pressure on global praziquantel need, but few countries have sub-district prevalence data and no guidelines on how to collect this information. METHODS/PRINCIPAL FINDINGS: Data collected from 57,161 school-aged children (SAC) across six countries (Burkina Faso, Ghana, Mali, Senegal, Sierra Leone, and Togo) to generate spatially realistic gold standard datasets that were used to evaluate different numbers of schools per sub-district (1-10) and district (5-30), number of SAC sampled per school (10-50), on accuracy of prevalence estimates. Sampling fewer children in more schools maximized accuracy of prevalence at the sub-district and district level. Surveying three schools per sub-district or 15 schools per district gave precise prevalence estimates. Increasing the number of SAC beyond 30 per school led to negligible improvements in reliably detecting schistosomiasis. Failure to detect schistosomiasis occurred more frequently in low (1-10%) prevalence and larger districts/sub-districts. CONCLUSION: This study provides guidelines for evaluating sub-district schistosomiasis in a range of transmission settings. Among two-stage cluster surveys for schistosomiasis, our simulations show surveying three schools per sub-district and 20-30 SAC per school optimized cost-efficiency and minimized risk of mistreatment. Population size and endemicity influenced survey estimates, with the probability of misclassification being greater as populations increased or prevalence decreased.
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The attraction of three Stomoxys species to 26 fruits and 26 flowers of different plant species was investigated in two different sites in Mali during 2008. Stomoxys niger bilineatus Grunberg (Diptera: Muscidae) was attracted to a wider spectrum of species, significantly attracted by four fruits and eight flowers compared with control traps, whereas S. sitiens Rondani (Diptera: Muscidae) was attracted to six fruits and seven flowers of different plants, and S. calcitrans L. (Diptera: Muscidae) was only attracted to one fruit and three flowers. Cold anthrone assays showed a significantly higher prevalence of sugar feeding amongst all three species at the lagoon site than at the site near Mopti. The rhythm of activity study shows temporally separated blood- and sugar-feeding periods for S. niger bilineatus and S. sitiens, but not for S. calcitrans. A comparison between blood and sugar feeding throughout the day shows that sugar feeding activity is as frequent as blood feeding activity. Because not much is known about the preferred sugar sources for Stomoxys species in their natural habitats, the present study provides valuable information regarding the attraction capability of several plants with possible future implication for Stomoxys control strategies.
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Flores , Frutas , Muscidae/fisiologia , Animais , Comportamento Alimentar , Mali , Especificidade da EspécieRESUMO
In 2011, the 79th General Session of the World Assembly of the World Organisation for Animal Health (OIE) and the 37th Food and Agriculture Organization of the United Nations (FAD) Conference adopted a resolution declaring the world free from rinderpest and recommending follow-up measures to preserve the benefits of this new and hard-won situation. Eradication is an achievable objective for any livestock disease, provided that the epidemiology is uncomplicated and the necessary tools, resources and policies are available. Eradication at a national level inevitably reflects national priorities, whereas global eradication requires a level of international initiative and leadership to integrate these tools into a global framework, aimed first at suppressing transmission across all infected areas and concluding with a demonstration thatthis has been achieved. With a simple transmission chain and the environmental fragility of the virus, rinderpest has always been open to control and even eradication within a zoosanitary approach. However, in the post-1945 drive for more productive agriculture, national and global vaccination programmes became increasingly relevant and important. As rinderpest frequently spread from one region to another through trade-related livestock movements, the key to global eradication was to ensure that such vaccination programmes were carried out in a synchronised manner across all regions where the disease was endemic - an objective to which the European Union, the United States Agency for International Development, the International Atomic Energy Agency, the African Union-Interafrican Bureau of Animal Resources, FA0 and OIE fully subscribed. This article provides a review of rinderpest eradication, from the seminal work carried out by Giovanni Lancisi in the early 18th Century to the global declaration in 2011.
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Controle de Doenças Transmissíveis/história , Peste Bovina/história , Peste Bovina/prevenção & controle , África/epidemiologia , Animais , Ásia/epidemiologia , Bovinos , Controle de Doenças Transmissíveis/legislação & jurisprudência , Controle de Doenças Transmissíveis/métodos , Europa (Continente)/epidemiologia , História do Século XVI , História do Século XVII , História do Século XVIII , História do Século XIX , História do Século XX , História do Século XXI , Pandemias/história , Pandemias/prevenção & controle , Pandemias/veterinária , Peste Bovina/epidemiologia , Vírus da Peste Bovina/imunologia , Vacinação/história , Vacinação/veterinária , Vacinas Virais/história , Vacinas Virais/normasRESUMO
BACKGROUND: Maternal mortality is still too high in sub-Saharan Africa, particularly in referral hospitals. Solutions exist but their implementation is a great issue in the poor-resources settings. The objective of this study is to assess the effect of the organization of obstetric care services on maternal mortality in referral hospitals in Mali. METHODS: This is a multicentric observational survey in 22 referral hospitals. Clinical data on 42,929 women delivering in the 22 hospitals within the 2007 to 2008 study period were collected. Organization evaluation was based on explicit criteria defined by an expert committee. The effect of the organization on in-hospital mortality adjusted on individual and institutional characteristics was estimated using multi-level logistic regression models. RESULTS: The results show that an optimal organization of obstetric care services based on eight explicit criteria reduced in-hospital maternal mortality by 41% compared with women delivering in a referral hospital with sub-optimal organization defined as non-compliance with at least one of the eight criteria (ORa=0.59; 95% CI=0.34-0.92). Furthermore, local policies that improved financial access to emergency obstetric care had a significant impact on maternal outcome. CONCLUSION: Criteria for optimal organization include the management of labor and childbirth by qualified personnel, an organization of human resources that allows timely management of obstetric emergencies, routine use of partography for all patients and availability of guidelines for the management of complications. These conditions could be easily implemented in the context of Mali to reduce in-hospital maternal mortality.
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Mortalidade Hospitalar/tendências , Maternidades/organização & administração , Mortalidade Materna/tendências , Complicações do Trabalho de Parto/mortalidade , Qualidade da Assistência à Saúde , Centros de Atenção Terciária/organização & administração , Adulto , Algoritmos , Feminino , Inquéritos Epidemiológicos , Maternidades/normas , Humanos , Modelos Logísticos , Mali/epidemiologia , Gravidez , Gestão de Riscos , Centros de Atenção Terciária/normasRESUMO
Objective: Chronic myeloid leukemia (CML) is a hematologic malignancy characterized by the presence of the Philadelphia chromosome or its molecular equivalent, the BCR/ABL1 fusion gene. Diagnosis and monitoring of CML are done by detecting this chromosome, the BCR/ABL1 gene, or the BCR/ABL1 transcript. In Mali, genetic tools of diagnosis and follow-up are still lacking, so we did this study with the objectives of developing the FISH technique to diagnose, to follow up, and to characterize the cytogenetic profile of CML patients. Methods: We carried out FISH technique by using the dual color dual fusion probe for BCR/ABL1 on interphase nuclei and metaphases. Slides were scanned with an epifluorescence microscope. Results: A total of 25 patients (16 for diagnostic and 9 for follow-up) were included. We achieved a 92% success rate for obtaining metaphases. The BCR/ABL1 gene fusion signal was present in 22 patients. Among those 22 patients, 16 presented a typical signal pattern and 6 presented atypical signal patterns. Conclusion: We set up the FISH technique in Mali for the diagnosis and the follow-up of CML patients and identified atypical translocation of t(9;22).
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INTRODUCTION: Dislocations of the knee are serious, involving the functional prognosis and sometimes the vital prognosis of the limb concerned. The aim of our work was to assess the functional results of our care. MATERIALS AND METHODS: This were a prospective study concerning patients with dislocation of the knee, treated and followed in the Department of Orthopedics-Traumatology at the CHU Gabriel TOURE from January 2015 to October 2018. RESULTS: We collected 30 patients with knee dislocation. The male sex predominated (60%) with a sex ratio of 1.5. The average age was 32.56 years. AVP was the main etiology with 83.3%. The mechanism was direct in 86.7%. Standard knee X-ray with front and side views was performed in all patients. Posterolateral dislocation was the most common type of pathology (20%). Associated lesions were observed in 56.6%. The response time was less than 6 hours in 100%. The treatment was orthopedic in 93.3%. Complications were dominated by knee laxity with 43%. At the average follow-up of 18.9 months, the functional results were good in 20%. CONCLUSION: Knee dislocations are the prerogative of the young subject. Accidents due to motorcycles are the main circumstances. Associated lesions are frequent. Orthopedic treatment is still relevant but the evolution is still unpredictable despite the early treatment.
INTRODUCTION: Les luxations du genou sont graves mettant en jeu le pronostic fonctionnel et parfois le pronostic vital du membre concerné. Le but de ce travail était de déterminer les aspects épidémiologiques, cliniques et d'évaluer les résultats du traitement. MATÉRIEL ET MÉTHODES: il s'agissait d'une étude retro prospective concernant les patients présentant une luxation du genou , traités et suivis dans le service d'Orthopédie-Traumatologie au CHU Gabriel TOURE de janvier 2015 à octobre 2018. RÉSULTATS: Nous avons colligé 30 patients présentant une luxation du genou. Le sexe masculin a prédominé (60%) avec un sex-ratio de 1,5. L'âge moyen était de 32,56 ans. Les AVP ont été la principale étiologie avec 83,3%. Le mécanisme était direct dans 86,7%. Les radiographies standards du genou de face et profil ont été réalisées dans 100%. La luxation postéro-latérale a été le type anatomopathologique le plus fréquent (20%). Les lésions associées étaient observées dans 56,6%. Le délai de prise en charge a été de moins de 6 heures dans 100%. Le traitement a été orthopédique dans 93,3%. Les complications étaient dominées par la laxité du genou avec 43%. Au recul moyen de 18,9 mois, les résultats fonctionnels ont été bons dans 20%. CONCLUSION: Les lésions associées sont fréquentes. Le traitement orthopédique reste toujours d'actualité, mais l'évolution est toujours imprévisible malgré la précocité de la prise en charge.
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INTRODUCTION: Acetabularfractures involving the functionalprognosis of the hip. The aim of thisworkwas to determine the epidemiological, clinical, and outcome aspects of treatment. MATERIALS AND METHODS: This wasa retro-prospective study of patients withacetabulum fracture treated and followedfromJanuary 2015 to June 2018. RESULTS: Wecollected 49 patients with an acetabulum fracture. Acetabulum fractures made up 8.3% of all pelvic injuries during the studyperiod. The male sexprevailed (87.8%) with a sex ratio of 7.16. The averageagewas 36.14 years (range: 17 years and 77 years). The circumstances of the trauma were accidents on the public highway (69.4%), accidents atwork (14.3%), accidents in the home (10.2%), accidents in sports (4.1%), assaults (2%). The mechanismwas indirect in 87.8%.Pain with total functional impotence wasobservedin 83.7% and with a vicious attitude of the traumatized limbin 89, 8%. The standard radiographywith the incidences of the pelvis face as well as the ¾ wing and ¾ obturatorwasperformed in all patients. The transverse fracture of the acetabulumwas the mostcommonanatomo-radiological type (61.2%). Shock (34.6%) and hip dislocation (24.4%) were the mostcommonearly complications. Treatment was orthopedicin 95.9%. After an averagefollow-up of 23.24 months, the anatomicalresultsweresatisfactoryin 32.7% and the functionalresults good in 51%. Lameness (91.8%), mechanical pain (30.6%) and osteoarthritis (16.3%) were the main complications in the medium term. CONCLUSION: Fractures of the acetabulum are the preserve of the adult, especially of the male. The complications are dominated by mechanical pain, lameness and early hip osteoarthritis. The anatomicalresultsthat condition the functionalresults are less good with the orthopedictreatment.
INTRODUCTION: Les fractures de l'acétabulum mettent en jeu le pronostic fonctionnel de la hanche et leur traitement est difficile. Le but de ce travail était de déterminer les aspects épidémiologiques, cliniques, et d'évaluer les résultats du traitement. MATÉRIEL ET MÉTHODES: il s'agissait d'une étude retro prospective concernant les patients présentant une fracture de l'acétabulum, traités et suivis de janvier 2015 à juin 2018. RÉSULTATS: Nous avons colligé 49 patients présentant une fracture de l'acétabulum. Les fractures de l'acétabulum ont constitué 8, 3% des traumatismes du bassin pendant la période d'étude. Le sexe masculin a prédominé (87,8%) avec un sex-ratio de 7,16. L'âge moyen était de 36,14 ans (extrêmes : 17 ans et 77 ans). Les circonstances du traumatisme ont été les accidents de la voie publique (69,4%), les accidents de travail (14,3%), les accidents de vie domestique (10,2%), les accidents de sport (4,1%), les agressions (2%). Le mécanisme était indirect dans 87,8%. La douleur avec impotence fonctionnelle totale a été observée dans 83,7%, et avec une attitude vicieuse du membre traumatisé dans 89, 8%. La radiographie standard avec les incidences du bassin de face ainsi que les ¾ alaire et ¾ obturateur était réalisée chez tous patients. La fracture transversale de l'acétabulum a été le type anatomoradiologique le plus fréquent (61, 2%). L'état de choc (34,6%) et la luxation coxo-fémorale (24,4%) ont été les complications précoces les plus observées. Le traitement a été orthopédique dans 95,9%. Après un recul moyen de 23,24 mois, les résultats anatomiques ont été satisfaisants dans 32,7% et les résultats fonctionnelsbons dans 51%. La boiterie (91,8%), la douleur mécanique (30, 6%) et l'arthrose (16, 3%) ont été les principales complications à moyen terme. CONCLUSION: les fractures de l'acétabulum touchent fréquemment l'adulte, surtout de sexe masculin. Les complications sont dominées par les douleurs mécaniques, la boiterie et la coxarthrose précoce. Les résultats anatomiques qui conditionnent les résultats fonctionnels sont moins bons avec le traitement orthopédique.
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BACKGROUND: Age estimation by invasive dental methods is a destructive, costly and time-consuming approach, whereas, age estimation methods using dental radiographs are simple, non-destructive and provide reliable information. Age estimation by the Kvaal radiographic method has proven to be a reliable method, but possible ethnic variations may limit its uses in other populations. The objective of this study was to reproduce the original Kvaal method with CBCT for the estimation of the age of the adult melano-African subject in Côte d'Ivoire, in order to propose an age estimation formula, specific to our study population, by taking into account the measurements of tooth and pulp ratios. METHODS: A cross-sectional study used 102 radiographic data from a CBCT Planmeca® examination in a private dental clinic in Abidjan. It was data from subjects of at least 18 years of age. Dental measurements in length and width of the entire tooth, root and pulp were performed on maxillary central incisors and the different ratios were calculated according to the Kvaal method. The correlation between age and ratios was also assessed. Age estimated using the Kvaal formula was compared to the chronological age. A linear regression equation was developed using ratios and age predictive factors to evaluate the accuracy of the Kvaal formula. RESULTS: In all, a total of 102 radiographs of 102 subjects, of whom 55 (53.9%) were females, were analyzed. The median age was 51 years (inter-quartile range [IQR] 41- 58). Using the Kvaal formula, the Standard error of the estimated age was higher in the African melanoderma population compared to the Kvaal population. The new formula derived from that of the Kvaal formula was developed and applied to our study population (Age = 84.7- 114.2 (M) - 29.4 (W - L) gave more than double the standard error of estimated age by Kvaal (26.03). CONCLUSION: Our study showed that the measurements made by Kvaal are reproducible with CBCT and there is a correlation between age and the dental parameters studied. However, the age estimation formula determined by Kvaal et al. is not valid for African melanoderma subjects living in Côte d'Ivoire.
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População Negra , Melanose , Adulto , Idoso de 80 Anos ou mais , Côte d'Ivoire , Estudos Transversais , Etnicidade , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Introduction: Autosomal recessive cerebellar ataxias (ARCA) are a group of rare and heterogynous neurodegenerative diseases mainly characterized by unbalance and walking difficulty and movement incoordination. Objectives: To clinically and paraclinically characterize ARCA in the department of Neurology at the Teaching Hospital of Point G and identify the underlying genetic defect. Patients and method: We have conducted a longitudinal and prospective study from January 2018 to December 2020. Patients with ARCA phenotype seen in the Department of Neurology at the Teaching Hospital of Point "G" were enrolled. Results: We have enrolled 7 families totaling 13 patients after giving an informed verbal and written consent. The sex ratio was 2.2 in favor of males, Kayes region and Fulani ethnic group were respectively the most represented region and ethnic group.Walking difficulty represented the major symptom followed by loss of vibration and joint sense, nystagmus, dysarthria and skeletal deformities. Alpha-foetoprotein level was high in one patient. Genetic testing confirmed Friedreich ataxia in one family and was not conclusive in 4 families. Conclusion: This study showed that ARCA are not uncommon in Mali and genetic testing is crucial to confirm the diagnosis.
Introduction: Les ataxies cérébelleuses autosomiques récessives (ACAR) constituent un groupe de maladies neurodégénératives rares et hétérogènes caractérisées essentiellement par un trouble de l'équilibre et de la marche, et un trouble de la coordination des mouvements. Objectifs: Caractériser les signes cliniques, paracliniques et génétiques des ataxies cérébelleuses autosomiques récessives au Service de Neurologie du CHU du Point "G". Patients et méthodes: Nous avons réalisé une étude de cas enrôlé dans le cadre d'une étude longitudinale et prospective allant de Janvier 2018 à Décembre 2020, portant sur des patients présentant des symptômes d'ACAR et ayant donné leur consentement éclairé. Résultats: Nous avons enrôlé sept familles totalisant 13 patients. Le sexe ratio était de 2,2 en faveur des hommes, la région de Kayes était la plus représentée et l'ethnie peulh était majoritaire. Les troubles de la marche ont représenté les signes majeurs suivis de troubles de la sensibilité profonde, de nystagmus, de dysarthrie, et des déformations ostéoarticulaires. L'alpha-foetoprotéine était élevée chez une patiente. Le test génétique a retrouvé l'ataxie de Friedreich dans une famille et n'a pas été concluant dans quatre autres. Conclusion: Cette étude montre que les ACAR ne sont pas rares au Mali et l'exploration génétique constitue un outil indispensable pour leur diagnostic de certitude.
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Ataxia Cerebelar , Ataxia de Friedreich , Masculino , Humanos , Ataxia Cerebelar/genética , Estudos Prospectivos , Mali , Ataxia de Friedreich/genética , Testes GenéticosRESUMO
BACKGROUND: Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative disorders affecting the cerebellum and its connections. We describe the clinical and molecular findings in 16 patients originating from Malian families, who suffer from progressive cerebellar ataxia syndrome. METHODS AND RESULTS: Molecular analysis allows genetic profiles of SCA to be distinguished. In seven patients, SCA type 2 (CAG) mutation was expanded from 39 to 43 repeats. SCA type 7 (CAG) mutation was confirmed in six patients. Mutations were expanded from 49 to 59 repeats. In three patients, SCA type3 was diagnosed and CAG mutation was expanded to 73 repeats. CONCLUSIONS: Our data suggest that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.
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Predisposição Genética para Doença/genética , Mutação/genética , Ataxias Espinocerebelares/diagnóstico , Ataxias Espinocerebelares/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Idoso , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Mali/epidemiologia , Pessoa de Meia-Idade , Ataxias Espinocerebelares/classificaçãoRESUMO
BACKGROUND: Owing to methodological issues, little research has been conducted to examine quality of life (QoL) as a treatment outcome in autism spectrum disorders (ASD) and intellectual disabilities (ID). This study was conducted to combine QoL measures and objective observations of challenging behaviours (CB) in order to evaluate changes over time in adults with ASD and ID who were treated in two different residential programmes; we hypothesised that a decrease in CB would be related to an improved QoL. METHOD: In a longitudinal study (45 months), we followed 31 adults with ASD and ID who had been integrated into two residential programmes [Autism Programme with a Structured Method (PAMS) vs. traditional programme for ID (No-PAMS)] for 2-19 years. QoL [Quality of Life Inventory in a Residential Environment (IQVMR)] and severity of autistic features (Childhood Autism Rating Scales) were evaluated annually. CB, as measured by the Aberrant Behaviour Checklist (ABC), including stereotypic behaviour and inappropriate speech, were repeatedly assessed every 3 months. RESULTS: Observed separately, the groups' results were different. In the PAMS programme, stereotypic behaviour and inappropriate speech (ABC scores) significantly decreased, and the IQVMR total score increased; in contrast, in the comparison group, ABC scores did not change and the IQVMR total score decreased. In all, three mixed-effect ANCOVAs partially confirmed that the PAMS programme had an effect on CB and that QoL improvement did not directly depend on the type of programme but on reducing CB as measured by the ABC. CONCLUSION: The PAMS programme has a positive and indirect influence on QoL by reducing CB.
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Transtornos Globais do Desenvolvimento Infantil/reabilitação , Deficiência Intelectual/reabilitação , Qualidade de Vida , Instituições Residenciais/métodos , Instituições Residenciais/organização & administração , Comportamento Social , Adulto , Criança , Transtornos Globais do Desenvolvimento Infantil/psicologia , Feminino , Humanos , Deficiência Intelectual/psicologia , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Comportamento Estereotipado , Comportamento Verbal , Adulto JovemRESUMO
A 27-year-old woman, gravida 1, was seen at our surgical emergency department with abdominal pain at 25 weeks' gestation. She had pain, nausea and vomiting, a temperature of 37°C and a blood pressure of 100/70 mmHg. The cervix was closed, and an ultrasound scan showed a normal single fetus. A plain abdominal radiograph showed distension of the colon and a sigmoid volvulus. At emergency laparotomy, non-gangrenous sigmoid colon was resected with primary anastomosis. There were no complications, and 4 months later the patient delivered a healthy infant. Early diagnosis of sigmoid volvulus in pregnancy and prompt intervention minimise maternal and fetal morbidity and mortality.
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Volvo Intestinal/diagnóstico , Volvo Intestinal/cirurgia , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/cirurgia , Doenças do Colo Sigmoide/diagnóstico , Doenças do Colo Sigmoide/cirurgia , Adulto , Feminino , Humanos , GravidezRESUMO
The purpose of this report was to determine the frequency of hysterectomy and describe its indications and outcomes. A retrospective, descriptive study related to active hysterectomy of was conducted at the reference health centre of commune V in Bamako, Mali from January 1st, 2004 to December 31st, 2008. All hysterectomy patients with complete medical files were included. A total of 172 files were identified including 152 that were complete. Hysterectomy accounted for 1.38% of all interventions during the study period. The procedure was carried out in emergency in 0.14% and electively in 13.39%. Mean patient age was 47.9 +/- 11.7 years; 89 patients were older than 45 years. The indications for hysterectomy were complicated uterine fibroids in 82 patients, genital prolapse in 44, adenomyosis in 10, obstetrical hysterectomy in 13 and cervical dysplasia in 3. The abdominal route was used in 100 patients (65.8%) and the vaginal rout in 52 (34.2%). The duration of the procedure and hospital stay was longer after hysterectomy by the abdominal (p<0.05). Perioperative complications were observed in 17% of patients after abdominal hysterectomy versus 7.69% after vaginal hysterectomy. Two maternal deaths due to hemorrhagic shock were observed after obstetrical hysterectomy. Hysterectomy is a frequent intervention that is not without complication risks. Choice of route depends on the indication and skill of the operator. Although endoscopic surgery is still difficult to perform in developing countries, development of vaginal hysterectomy is necessary to reduce perioperative complications.
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Histerectomia Vaginal/estatística & dados numéricos , Histerectomia/métodos , Histerectomia/estatística & dados numéricos , Adulto , Idoso , Feminino , Humanos , Histerectomia/efeitos adversos , Histerectomia Vaginal/métodos , Período Intraoperatório , Mali/epidemiologia , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Fatores de Tempo , Doenças Uterinas/reabilitação , Doenças Uterinas/cirurgia , Adulto JovemRESUMO
INTRODUCTION: Sars Cov 2 infection is a complex viral infectious lung disease that can be complicated by damage to other organs. CASE REPORT: This is a type 2 diabetic patient, overweight and hypertensive, who consults in an emergency for a meningeal syndrome in a context of fever and cough, in whom laboratory and para-clinical investigations have concluded diagnosis of severe Sars cov2 pneumonia complicated by meningeal syndrome. Resuscitation under antibiotic therapy and immunosuppressant treatment associated with risk factor treatments led to a cure without serious complications. CONCLUSION: Sars Cov 2 pneumonia complicated by meningism is serious, early management combining antibiotic therapy and immunosuppressive treatment improves the prognosis.
INTRODUCTION: L'infection à Sars Cov2 est une pneumopathie infectieuse virale complexe qui peut se compliquer d'atteinte d'autres organes. OBSERVATION DE CAS: Il s'agit d'une patiente diabétique de type 2, en surpoids et hypertendue, qui consulte aux urgences pour un syndrome méningé dans un contexte de fièvre et de toux, chez qui les explorations biologiques et para cliniques ont conclu au diagnostic de pneumopathie sévère à Sars cov2 compliquée de méningite. La prise en charge en réanimation sous antibiothérapie et traitement d'immuno-suppresseur associées aux traitements des facteurs de risques ont conduit à une guérison sans complication grave observée. CONCLUSION: La pneumopathie à Sars Cov2 compliquée de méningisme est grave, la prise en charge précoce associant l'antibiothérapie et le traitement d'immunosuppresseur améliore le pronostic.
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INTRODUCTION: Glaucoma is the leading cause of irreversible blindness in the world. The purpose of our study was to evaluate the tonometric results of SLT treatment in patients with glaucoma. MATERIALS AND METHODS: This was a prospective study of patients with glaucoma who were seen from October 1, 2017 to July 31, 2018. All patients underwent SLT of the inferior 180°. Intraocular pressure (IOP) was measured before and then at 1, 15, 30, 60, 90 and 120days after treatment. RESULTS: We studied 35 eyes of 31 patients. The mean age was 59.3 (±8.4years), range 43-77years. The mean IOP prior to SLT was 20.1mmHg (±7mmHg). One day after the laser, this decreased to 17.6mmHg (±8.4), for a percentage of drop of 12.4%. At 30days, it was 15.3mmHg (±5.4mmHg), i.e. a 23.9% decrease. After 60 and 90days, there was a drop of 13.9% and 15.4%, respectively. At 120days, 43.3% of treated eyes had a decrease of at least 20%. The main complication was increased IOP in 14.2% of cases. CONCLUSION: SLT reduces IOP and the number of glaucoma medications in patients. It appears to be a viable alternative in our countries. These results should be confirmed with a larger cohort and longer follow-up.
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Glaucoma de Ângulo Aberto , Glaucoma , Terapia a Laser , Trabeculectomia , Adulto , Idoso , Burkina Faso/epidemiologia , Glaucoma/epidemiologia , Glaucoma/cirurgia , Glaucoma de Ângulo Aberto/epidemiologia , Glaucoma de Ângulo Aberto/cirurgia , Humanos , Pressão Intraocular , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do TratamentoRESUMO
HIV infection is a chronic infectious disease requiring long-term management and regular follow-up of patients. OBJECTIVES: The aims of this study was to describe the socio-demographic, clinical, biological and therapeutic aspects of adolescents treated and followed for HIV infection at the Hospital Gabriel Toure paediatric center. PATIENTS AND METHODS: From 01/01/2001 to 31/12/2017, the medical records of children followed for HIV infection until adolescence were analyzed. It was a descriptive and analytical retrospective study. RESULTS: One thousand five hundred and fourteen patients received antiretroviral treatment and 587 were still in follow-up on 31 December 2017, including 393 adolescents (sex-ratio = 1.2). The median age was 14.25 years and 55.1% of children had lost at least one parent. HIV serology was positive among mothers in 61.7% of cases (n=342), and 63% of them were on ARVs. Sixty-eight per cent of children were WHO Stage III or IV at the time of ART initiation. The median age at onset of ART was 53 months (26-96 months). The combination of 2 nucleotide reverse transcriptase inhibitors (NRTIs) with a non-nucleotide reverse transcriptase inhibitor (NNRTI) was used in 89% of patients. The median CD4 count before ARV treatment was 438/mm3. The average duration of follow-up under treatment was 9.8 ± 3.4 years. Fifty-one percent of adolescents had undetectable viral load. There was a correlation between the initiation of a second line of treatment and treatment failure (p<0.001). CONCLUSION: The adherence of adolescents to ARV treatment requires the implementation of innovative strategies to improve the therapeutic success rate.
L'infection à VIH est une maladie chronique infectieuse nécessitant une prise en charge longue et un suivi régulier des patients. OBJECTIFS: L'objectif de ce travail était de décrire les aspects socio-démographiques, clinico-biologiques et thérapeutiques du VIH chez l'adolescentau centre d'excellence pédiatrique de prise en charge du CHU Gabriel Toure. PATIENTS ET MÉTHODES: Il s'agissait d'une étude transversale avec recueil rétrospectif de données, qui s'est déroulée du 01/01/2001 au 31/12/2017. C'était une étudetransversale à visée analytique portant sur les dossiers des adolescents d'au moins10 ans. RÉSULTATS: Trois cent quatre-vingt-treize (393) adolescents d'au moins10 ansont été inclus. La sérologie VIH était positive chez les mères dans 61,7% des cas (n=342), et 63% d'entre elles étaient sous ARV. Soixante-huit pour cent des enfants étaient classés stade III ou IV de l'OMS au moment de la mise sous TARV. L'association de 2 inhibiteurs nucléosidiques de la transcriptase inverse (INTI) à un inhibiteur non nucléotidique de la transcriptase inverse (INNTI) a été utilisée chez 89% des patients. Le taux de CD4 médian avant la mise sous traitement ARV était de 438/mm3 La durée moyenne de suivi sous traitement était de 9,8 ± 3,4 ans. Cinquante un pourcent (51%) des adolescents étaient en succès thérapeutique avec une charge virale indétectable (< 1000 copies/ml). Il y avait une corrélation entre l'instauration d'une seconde ligne de traitement et l'échec thérapeutique (p<0,001). CONCLUSION: L'adhésion des adolescents au traitement ARV nécessite la mise en place de stratégies innovantes permettant d'améliorer le taux de succès thérapeutique.
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OBJECTIVES: The objectives were to describe the epidemiological and prognostic aspects of eclampsia in the Bougouni reference health center. METHODS: This was a transversal prospective, descriptive study from January 1 to December 31, 2015 in the gynecology-obstetrics department of Bougouni reference health center. Were included, all pregnant or postpartum women diagnosed with eclampsia during the study period. RESULTS: The frequency of eclampsia was 2.54%. They were adolescent girls in 50% of cases, primigest in 62.5% of cases, unschooled in 67.5% of cases, having not performed any antenatal care in 70% of cases. Eclampsia occurred in antepartum in 37.5% of cases, in 5% in perpartum and in 57.5% in postpartum. Therapeutically, nicardipine with 72.5% and nifedipine with 22.5% were the antihypertensive drugs used. As for anticonvulsants, magnesium sulfate (MgSO4) was used in 92.5% and diazepam in 7.5%. The maternal-fetal prognosis was marked by 2.5% of maternal death, 27% of prematurity and 27.5% of fetal death in utero. CONCLUSION: Eclampsia is a dreadful pathology with serious maternal and fetal complications.
OBJECTIFS: Les objectifs étaient de décrire les aspects épidémiologique et pronostique de l'éclampsie dans le centre de santé de référence de Bougouni. MÉTHODES: Il s'agissait d'une étude transversale prospective, descriptivedu 1er janvier au 31 décembre 2015 dans le service de gynécologie-obstétrique du centre de santé de référence de Bougouni. Ont été incluses, toutes les femmes enceintes ou les accouchées chez qui le diagnostic de crise d'éclampsie a été retenu pendant la période d'étude. RÉSULTATS: La fréquence de l'éclampsie a été de 2,54%. Il s'agissait d'adolescentes dans 50% des cas, primigestes dans 62,5% des cas, non scolarisées dans 67,5% des cas,n'ayant effectuées aucune consultation prénatale dans70% des cas. L'éclampsie est survenue en antépartumdans 37,5% des cas, dans 5% en perpartum et dans 57,5% en postpartum. Sur le plan thérapeutique, la nicardipine avec 72,5% et la nifédipine avec 22,5% ont été les antihypertenseurs utilisés. Quant aux anticonvulsivants, le sulfate de magnésium (MgSO4) a été utilisé dans 92,5% et le diazépam dans 7,5%. Le pronostic materno-fÅtal a été marqué par 2,5% de décès maternel, 27% de prématurité et 27,5% de mort fÅtale in-utéro. : L'éclampsie est une pathologie redoutable aux complications maternelles et fÅtales graves.