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1.
Georgian Med News ; (334): 116-124, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36864805

RESUMEN

In sub-Saharan Africa (SSA), the etiological factors of epilepsy are multiple and phacomatoses, in particular Sturge weber's disease, are rarely reported due to under-medicalization and insufficient multidisciplinary care. We carried out a retrospective study of 216 patients hospitalized for recurrent epileptic seizures between 2015 and 2022 in the neurology and pediatrics department of the University Hospital Center of Conakry, among whom eight (8) patients were identified for Sturge Weber's disease in order to reassess this pathology from a clinical and paraclinical point of view in a tropical environment. Sturge Weber's disease was retained in eight (8) on the presence of symptomatic partial epileptic seizures (age 6 months to 14 years) with frequency of status epilepticus, homonymous lateral hemiparesis linked to occipital involvement, piriform calcifications on imaging and ocular disorders. The delay in consultation and medical care revealed severe mental deterioration in our patients. This study shows a stereotyped clinical picture in a context of aggravation of signs related to a delay in multidisciplinary management. These results are important for the diagnostic, therapeutic and prognostic discussion.


Asunto(s)
Disfunción Cognitiva , Epilepsia , Niño , Humanos , Estudios Retrospectivos , Guinea , Epilepsia/complicaciones , Epilepsia/diagnóstico , Convulsiones/diagnóstico , Convulsiones/etiología
2.
Georgian Med News ; (334): 142-146, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36864809

RESUMEN

In sub-Saharan Africa, the COVID-19 pandemic has caused severe malnutrition in elderly populations with the appearance of vitamin deficiencies, in particular thiamine responsible for Gayet Wernicke's encephalopathy (EGW). We present a series of six (6) patients hospitalized in the Neurology Department of the CHU Ignace Deen for the management of a brain syndrome with vigilance disorders after recovery from COVID-19, including oculomotor disorders, motor incoordination on a course of severe weight loss. The six patients underwent an evaluation of malnutrition by determining the WHO body mass index, the Detsky index, the serum albumin assay, the thiamine assay and a neuroradiological assessment (MRI) and an electroencephalogram (EEG) examination although this does not seem necessary for diagnosis. Study of nutritional status: weight loss greater than 5%, patients in Desky group B and C, plasma albumin<30 g/l, lowered thiamine and MRI neuroradiological data: by the existence of hypersignals in certain regions of the neocortex, certain gray nuclei, the mammillary bodies the thalamic nuclei close to the wall of the 3rd ventricle and the regions bordering the 4th ventricle sign Gayet Wernicke's encephalopathy syndrome. This study shows a stereotyped clinical, biological, neuroradiological and evolutionary profile of Gayet Wernicke's encephalopathy in elderly subjects recovered from Covid-19 with proven malnutrition. These results are useful for the therapeutic and prognostic discussion.


Asunto(s)
Encefalopatías , COVID-19 , Desnutrición , Encefalopatía de Wernicke , Anciano , Humanos , Encefalopatía de Wernicke/diagnóstico , Encefalopatía de Wernicke/diagnóstico por imagen , COVID-19/complicaciones , Pandemias , Guinea , Tiamina/uso terapéutico , Desnutrición/complicaciones
3.
Ann Dermatol Venereol ; 147(11): 782-785, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32653217

RESUMEN

INTRODUCTION: The recently identified role of a BRAF somatic mutation in the pathophysiology of Langerhans cell histiocytosis (LCH) offers new therapeutic options. Herein we describe the case of a 10-month-old infant with refractory high-risk LCH successfully treated with vemurafenib. OBSERVATION: The patient first presented with cutaneous LCH at the age of 2 months. The disease remained undiagnosed until she was 6 months old, when it rapidly evolved to a multisystemic high-risk and life-threatening disease, refractory to 2 lines of chemotherapy. BRAFV600E mutation was found at skin biopsy, and targeted therapy with vemurafenib was started when she was 10 months old. The treatment induced a fast and sustained response, but rapid relapse occurred after treatment discontinuation, leading to resumption of treatment, once more resulting in a sustained response. CONCLUSION: Our case highlights the first-line role of dermatologists in establishing the diagnosis of LCH, especially in children, in whom the eruption may be difficult to identify, leading to delayed diagnosis. Targeted therapy with vemurafenib has recently been described in children in this indication and our results support its efficacy, highlighting the need for prolonged treatment and raising the question of maintenance therapy, as well as the necessity for large-scale and long-term studies.


Asunto(s)
Histiocitosis de Células de Langerhans , Proteínas Proto-Oncogénicas B-raf , Femenino , Histiocitosis de Células de Langerhans/tratamiento farmacológico , Histiocitosis de Células de Langerhans/genética , Humanos , Lactante , Recurrencia Local de Neoplasia , Proteínas Proto-Oncogénicas B-raf/genética , Resultado del Tratamiento , Vemurafenib/uso terapéutico
4.
Epidemiol Infect ; 146(3): 354-358, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-29332619

RESUMEN

The global spread of non-tuberculous mycobacteria (NTM) may be due to HIV/AIDS and other environmental factors. The symptoms of NTM and tuberculosis (TB) disease are indistinguishable, but their treatments are different. Lack of research on the epidemiology of NTM infections has led to underestimation of its prevalence within TB endemic countries. This study was designed to determine the prevalence and clinical characteristics of pulmonary NTM in Bamako. A cross-sectional study which include 439 suspected cases of pulmonary TB. From 2006 to 2013 a total of 332 (76%) were confirmed to have sputum culture positive for mycobacteria. The prevalence of NTM infection was 9.3% of our study population and 12.3% of culture positive patients. The seroprevalence of HIV in NTM group was 17.1%. Patients who weighed <55 kg and had TB symptoms other than cough were also significantly more likely to have disease due to NTM as compared to those with TB disease who were significantly more likely to have cough and weigh more than 55 kg (OR 0.05 (CI 0.02-0.13) and OR 0.32 (CI 0.11-0.93) respectively). NTM disease burden in Bamako was substantial and diagnostic algorithms for pulmonary disease in TB endemic countries should consider the impact of NTM.


Asunto(s)
Seroprevalencia de VIH , Infecciones por Mycobacterium no Tuberculosas/epidemiología , Infecciones por Mycobacterium no Tuberculosas/microbiología , Micobacterias no Tuberculosas/aislamiento & purificación , Adolescente , Adulto , Anciano , Coinfección/epidemiología , Estudios Transversales , Femenino , Humanos , Masculino , Malí/epidemiología , Persona de Mediana Edad , Infecciones por Mycobacterium no Tuberculosas/diagnóstico , Prevalencia , Factores de Riesgo , Estudios Seroepidemiológicos , Adulto Joven
5.
J Chem Phys ; 146(12): 125102, 2017 Mar 28.
Artículo en Inglés | MEDLINE | ID: mdl-28388168

RESUMEN

We have used high-resolution quasielastic neutron scattering (QENS) to investigate the dynamics of water molecules (time scale of motion ∼10-11-10-9 s) in proximity to single-supported bilayers of the zwitterioniclipid DMPC (1,2-dimyristoyl-sn-glycero-3-phosphorylcholine) and the anionic lipid DMPG (1,2-dimyristoyl-sn-glycero-3-phosphoglycerol) in the temperature range 160-295 K. For both membranes, the temperature dependence of the intensity of neutronsscattered elastically and incoherently from these samples indicates a series of freezing/melting transitions of the membrane-associated water, which have not been observed in previous studies of multilayer membranes. We interpret these successive phase transitions as evidence of different types of water that are common to the two membranes and which are defined by their local environment: bulk-like water located furthest from the membrane and two types of confined water in closer proximity to the lipids. Specifically, we propose a water type termed "confined 2" located within and just above the lipid head groups of the membrane and confined 1 water that lies between the bulk-like and confined 2 water. Confined 1 water is only present at temperatures below the freezing point of bulk-like water. We then go on to determine the temperature dependence of the translational diffusion coefficient of the water associated with single-supported DMPG membranes containing two different amounts of water as we have previously done for DMPC. To our knowledge, there have been no previous studies comparing the dynamics of water in proximity to zwitterionic and anionic membranes. Our analysis of the water dynamics of the DMPG and DMPC membranes supports the classification of water types that we have inferred from their freezing/melting behavior. However, just as we observe large differences in the freezing/melting behavior between these model membranes for the same water type, our measurements demonstrate variation between these membranes in the dynamics of their associated water over a wide temperature range. In particular, there are differences in the diffusive motion of water closest to the lipid head groups. Previously, QENS spectra of the DMPC membranes have revealed the motion of water bound to the lipid head groups. For the DMPG membrane, we have found some evidence of such bound water molecules; but the signal is too weak for a quantitative analysis. However, we observe confined 2 water in the DMPG membrane to undergo slow translational diffusion in the head group region, which was unobserved for DMPC. The weak temperature dependence of its translational diffusion coefficient allows extrapolation to physiological temperatures for comparison with molecular dynamics simulations.

6.
BMC Infect Dis ; 16(1): 714, 2016 11 28.
Artículo en Inglés | MEDLINE | ID: mdl-27894266

RESUMEN

BACKGROUND: Although Drug resistance tuberculosis is not a new phenomenon, Mali remains one of the "blank" countries without systematic data. METHODS: Between 2006 and 2014, we enrolled pulmonary TB patients from local TB diagnostics centers and a university referral hospital in several observational cohort studies. These consecutive patients had first line drug susceptibility testing (DST) performed on their isolates. A subset of MDR was subsequently tested for second line drug resistance. RESULTS: A total of 1186 mycobacterial cultures were performed on samples from 522 patients, including 1105 sputa and 81 blood samples, yielding one or more Mycobacterium tuberculosis complex (Mtbc) positive cultures for 343 patients. Phenotypic DST was performed on 337 (98.3%) unique Mtbc isolates, of which 127 (37.7%) were resistant to at least one drug, including 75 (22.3%) with multidrug resistance (MDR). The overall prevalence of MDR-TB was 3.4% among new patients and 66.3% among retreatment patients. Second line DST was available for 38 (50.7%) of MDR patients and seven (18.4%) had resistance to either fluoroquinolones or second-line injectable drugs. CONCLUSION: The drug resistance levels, including MDR, found in this study are relatively high, likely related to the selected referral population. While worrisome, the numbers remained stable over the study period. These findings prompt a nationwide drug resistance survey, as well as continuous surveillance of all retreatment patients, which will provide more accurate results on countrywide drug resistance rates and ensure that MDR patients access appropriate second line treatment.


Asunto(s)
Antituberculosos/farmacología , Infecciones por VIH/epidemiología , Tuberculosis Resistente a Múltiples Medicamentos/epidemiología , Tuberculosis Pulmonar/epidemiología , Adolescente , Adulto , Antituberculosos/uso terapéutico , Estudios de Cohortes , Farmacorresistencia Bacteriana Múltiple , Femenino , Fluoroquinolonas/farmacología , Infecciones por VIH/microbiología , Humanos , Masculino , Malí/epidemiología , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Mycobacterium tuberculosis/aislamiento & purificación , Prevalencia , Retratamiento , Esputo/microbiología , Tuberculosis Resistente a Múltiples Medicamentos/diagnóstico , Tuberculosis Resistente a Múltiples Medicamentos/tratamiento farmacológico , Tuberculosis Resistente a Múltiples Medicamentos/microbiología , Tuberculosis Pulmonar/diagnóstico , Tuberculosis Pulmonar/tratamiento farmacológico , Tuberculosis Pulmonar/microbiología , Adulto Joven
7.
J Chem Phys ; 145(22): 224901, 2016 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-27984911

RESUMEN

The dynamics of water within ionic polymer networks formed by sulfonated poly(phenylene) (SPP), as revealed by quasi-elastic neutron scattering (QENS), is presented. These polymers are distinguished from other ionic macromolecules by their rigidity and therefore in their network structure. QENS measurements as a function of temperature as the fraction of ionic groups and humidity were varied have shown that the polymer molecules are immobile while absorbed water molecules remain dynamic. The water molecules occupy multiple sites, either bound or loosely constrained, and bounce between the two. With increasing temperature and hydration levels, the system becomes more dynamic. Water molecules remain mobile even at subzero temperatures, illustrating the applicability of the SPP membrane for selective transport over a broad temperature range.

8.
Ann Dermatol Venereol ; 143(10): 625-628, 2016 Oct.
Artículo en Francés | MEDLINE | ID: mdl-27156800

RESUMEN

BACKGROUND: In Senegal, reported cases of cutaneous leishmaniasis are often due to Leishmania major. Immunosuppression related to HIV infection contributes to the emergence of leishmaniasis in humans and to cutaneous localization of viscerotropic species. We report the first observed case in Senegal of opportunistic cutaneous leishmaniasis due to Leishmania infantum associated with HIV. PATIENTS AND METHODS: A 5-year-old boy presented crusted ulcerative lesions of the scalp and left forearm, together with axillary and cervical lymphadenopathy present for two months. Direct parasitological examination of the scalp and arm lesions, coupled with liquid aspiration of lymph nodes and bone marrow, enabled identification of amastigote forms of Leishmania. Polymerase chain reaction performed on skin, lymph node and bone marrow biopsy samples allowed identification of L. infantum. The child was positive for HIV1. Treatment of HIV infection and leishmaniasis resulted in clinical improvement. DISCUSSION: Co-infection with cutaneous leishmaniasis due to L. infantum and HIV is a complex combination in terms of the related therapeutic issues. The clinical and laboratory outcomes depend on restoration of immunity and on the efficacy, safety and availability of anti-leishmaniasis drugs.


Asunto(s)
Infecciones Oportunistas Relacionadas con el SIDA/diagnóstico , Infecciones por VIH/complicaciones , Leishmania infantum/aislamiento & purificación , Leishmaniasis Cutánea/diagnóstico , Preescolar , Humanos , Leishmaniasis Cutánea/complicaciones , Masculino , Senegal
9.
Ann Dermatol Venereol ; 143(2): 103-7, 2016 Feb.
Artículo en Francés | MEDLINE | ID: mdl-26795136

RESUMEN

BACKGROUND: In Africa, studies primarily devoted to chronic leg ulcer due to sickle cell disease are rare. The objectives of the study were to determine the epidemiology, diagnosis and progression of chronic leg ulcers in sickle cell disease. PATIENTS AND METHODS: A 5-year multicentre, retrospective study was conducted in three university hospitals in Dakar. We included all patients with chronic leg ulcers occurring in a setting of sickle cell disease. RESULTS: We identified 40 cases of chronic leg ulcers associated with sickle cell disease, representing 3.4% of the current population of sickle cell patients in our institutions. The average patient age was 25.9 years and the sex ratio was 2.33. Chronic leg ulcer was the presenting feature enabling diagnosis of sickle cell disease in one third of the cases. The average time to consultation from onset was 5.4 years. Pain was reported in 22 cases (48%). Ulcers were isolated in 76% and multiple in 24% of cases. The most common site was the medial malleolus (39%). A CBC allowed identification of anaemia in 35 cases. Haemoglobin electrophoresis was performed and homozygous sickle cell SS disease was identified in 39 cases and heterozygous SC disease in 1 case. Local treatments included physiologic serum, topical antibiotics and skin grafting. Systemic treatment included supplementation with folic acid in all patients, blood transfusion in 16 cases, vasodilators in 11 cases and antibiotics in 25 cases. The outcome was favourable in 61.8% of cases. DISCUSSION: In Dakar, sickle cell disease is a common cause of chronic leg ulcer and is frequently revealed by chronic leg ulcer.


Asunto(s)
Anemia de Células Falciformes/complicaciones , Úlcera de la Pierna/etiología , Adolescente , Adulto , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Niño , Femenino , Humanos , Úlcera de la Pierna/epidemiología , Úlcera de la Pierna/terapia , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Senegal/epidemiología , Adulto Joven
10.
Clin Immunol ; 159(1): 1-12, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25889622

RESUMEN

Characterizing perturbations in the immune response to tuberculosis in HIV can develop insights into the pathogenesis of coinfection. HIV+ TB+ and TB monoinfected (TB+) subjects recruited from clinics in Bamako prior to initiation of TB treatment were evaluated at time-points following initiation of therapy. Flow cytometry assessed CD4+/CD8+ T cell subsets and activation markers CD38/HLA-DR. Antigen specific responses to TB proteins were assessed by intracellular cytokine detection and proliferation. HIV+ TB+ subjects had significantly higher markers of immune activation in the CD4+ and CD8+ T cells compared to TB+ subjects. HIV+ TB+ had lower numbers of TB-specific CD4+ T cells at baseline. Plasma IFNγ levels were similar between HIV+ TB+ and TB+ subjects. No differences were observed in in-vitro proliferative capacity to TB antigens between HIV+ TB+ and TB+ subjects. Subjects with HIV+ TB+ coinfection demonstrate in vivo expansion of TB-specific CD4+ T cells. Immunodeficiency associated with CD4+ T cell depletion may be less significant compared to immunosuppression associated with HIV viremia or untreated TB infection.


Asunto(s)
Linfocitos T CD4-Positivos/inmunología , Linfocitos T CD8-positivos/inmunología , Coinfección/inmunología , Infecciones por VIH/inmunología , Tuberculosis Pulmonar/inmunología , ADP-Ribosil Ciclasa 1/inmunología , Adulto , Fármacos Anti-VIH/uso terapéutico , Antígenos Bacterianos/inmunología , Antituberculosos/uso terapéutico , Proliferación Celular , Coinfección/tratamiento farmacológico , Femenino , Citometría de Flujo , Infecciones por VIH/tratamiento farmacológico , Antígenos HLA-DR/inmunología , Humanos , Interferón gamma/inmunología , Interleucina-10/inmunología , Interleucina-12/inmunología , Interleucina-13/inmunología , Interleucina-2/inmunología , Activación de Linfocitos/inmunología , Masculino , Tuberculosis Pulmonar/tratamiento farmacológico , Factor de Necrosis Tumoral alfa/inmunología
11.
Phys Rev Lett ; 113(21): 215302, 2014 Nov 21.
Artículo en Inglés | MEDLINE | ID: mdl-25479500

RESUMEN

There are two renowned theories of superfluidity in liquid (4)He, quite different and each with specific domains of application. In the first, the Landau theory, superflow follows from the existence of a well-defined collective mode supported by dense liquid (4)He, the phonon-roton mode. In the second, superflow is a manifestation of Bose-Einstein condensation (BEC) and phase coherence in the liquid. We present combined measurements of superfluidity, BEC and phonon-roton (P-R) modes in liquid (4)He confined in the porous medium MCM-41. The results integrate the two theories by showing that well-defined P-R modes exist where there is BEC. The two are common properties of a Bose condensed liquid and either can be used as a basis of a theory of superfluidity. In addition, the confinement and disorder suppresses the critical temperature for superfluidity, Tc, below that for BEC creating a localized BEC "phase" consisting of islands of BEC and P-R modes. This phase is much like the pseudogap phase in the cuprate superconductors.

12.
J Biol Phys ; 40(2): 167-78, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24664796

RESUMEN

The effects of a static electric field on the dynamics of lysozyme and its hydration water are investigated by means of incoherent quasi-elastic neutron scattering (QENS). Measurements were performed on lysozyme samples, hydrated respectively with heavy water (D2O) to capture the protein dynamics and with light water (H2O), to probe the dynamics of the hydration shell, in the temperature range from 210 < T < 260 K. The hydration fraction in both cases was about ∼ 0.38 gram of water per gram of dry protein. The field strengths investigated were respectively 0 kV/mm and 2 kV/mm (~2 × 10(6) V/m) for the protein hydrated with D2O and 0 kV and 1 kV/mm for the H2O-hydrated counterpart. While the overall internal protons dynamics of the protein appears to be unaffected by the application of an electric field up to 2 kV/mm, likely due to the stronger intra-molecular interactions, there is also no appreciable quantitative enhancement of the diffusive dynamics of the hydration water, as would be anticipated based on our recent observations in water confined in silica pores under field values of 2.5 kV/mm. This may be due to the difference in surface interactions between water and the two adsorption hosts (silica and protein), or to the existence of a critical threshold field value Ec ~2-3 kV/mm for increased molecular diffusion, for which electrical breakdown is a limitation for our sample.


Asunto(s)
Óxido de Deuterio/química , Electricidad , Muramidasa/química , Muramidasa/metabolismo , Difracción de Neutrones , Temperatura
13.
Mali Med ; 38(1): 26-30, 2022.
Artículo en Francés | MEDLINE | ID: mdl-38506192

RESUMEN

INTRODUCTION: Hip prosthetic surgery is a commonly performed procedure in orthopedic trauma. It has changed the prognosis of traumatic, degenerative and inflammatory hip diseases. OBJECTIVE: The aim of this work was to evaluate the functional and anatomical results of a series of total hip replacements in our department in the short and medium term and to compare them with the literature. PATIENTS AND METHODS: This was a retrospective descriptive and analytical study of a series of 96 total hip replacements performed at the University Hospital of Kati, from January 2019 to December 2021. Functional discomfort was assessed in all patients before and after surgery. The prostheses used were of the Aston, AK, Surgival, Evolutus and Sharma types. The anatomical results were assessed by radiological criteria and the functional results by Postel Merle d'Aubigné criteria. RESULTS: In our study, 96 hips were operated on by total prosthesis in 91 patients, including five bilateral cases. The patients were 49 men and 42 women. The average age was 46.9 years. Coxarthrosis associated with necrosis of the femoral head was the most frequent indication for arthroplasty (n=51), followed by femoral neck fracture (n=26). The inclination of the cup was anatomical in 73.3% of cases. The mean femoral offset was 44.1 mm with extremes of 26 and 59 mm. Cup anteversion was normal in 79.4% of cases. The mean preoperative PMA score increased from 5.2 (0 and 15) to 16.9 (4 and 18) late postoperatively. Our results were satisfactory in 89% of cases. CONCLUSION: Total hip arthroplasty allows, in the vast majority of cases, to recover indolence and perfect functionality of the hip.


INTRODUCTION: La chirurgie prothétique de hanche est une intervention couramment pratiquée en orthopédie traumatologie. Elle a changé le pronostic des pathologies traumatiques, dégénératives et inflammatoires de la hanche. OBJECTIF: Le but de ce travail était d'évaluer à court et moyen terme les résultats fonctionnels et anatomiques d'une série de prothèses totales de hanche dans notre service et de les comparer avec la littérature. PATIENTS ET MÉTHODES: Il s'agissait d'une étude rétrospective descriptive et analytique d'une série de 96 prothèses totales de hanche réalisées au CHU de Kati, allant de janvier 2019 à décembre 2021. Les gênes fonctionnelles ont été appréciées chez tous les patients avant et après l'intervention. Les prothèses utilisées étaient de type Aston, AK, Surgival, Evolutus et Sharma. Les résultats anatomiques ont été appréciés par les critères radiologiques et les résultats fonctionnels par les critères de Postel Merle d'Aubigné. RÉSULTATS: Au cours de notre étude 96 hanches ont été opérées par prothèse totale chez 91 patients dont cinq cas bilatéraux. Il s'agit de 49 hommes et 42 femmes. L'âge moyen était 46,9 ans. La coxarthrose associée à la nécrose de la tête fémorale était l'indication de l'arthroplastie la plus fréquente (n=51) suivie de la fracture du col fémoral (n=26). L'inclinaison de la cupule était anatomique dans 73,3% des cas. L'offset fémoral moyen était 44,1 mm avec des extrêmes de 26 et 59 mm. L'antéversion de la cupule était normale dans 79,4% des cas. Le score moyen du PMA préopératoire était passé de 5,2 (0 et 15) à 16,9 (4 et 18) en postopératoire tardive. Nos résultats étaient satisfaisants dans 89% des cas. CONCLUSION: L'arthroplastietotaledehanchepermet,danslatrèsgrandemajoritédescas,deretrouve runeindolenceet une fonctionnalitéparfaite de la hanche.

14.
Mali Med ; 37(2): 17-21, 2022 07 08.
Artículo en Francés | MEDLINE | ID: mdl-36945313

RESUMEN

Background: Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders. Objectives: We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder. Methods: After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point "G". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis. Results: 141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded. Conclusion: We report cases of PME in Mali with a possibility of discovering new genes.


Asunto(s)
Epilepsia , Epilepsias Mioclónicas Progresivas , Neurología , Síndrome de Unverricht-Lundborg , Humanos , Universidades , Epilepsias Mioclónicas Progresivas/diagnóstico , Epilepsias Mioclónicas Progresivas/genética , Epilepsias Mioclónicas Progresivas/complicaciones , Epilepsia/complicaciones , Síndrome de Unverricht-Lundborg/complicaciones , Hospitales de Enseñanza
15.
Mali Med ; 37(4): 61-65, 2022 Dec 26.
Artículo en Inglés | MEDLINE | ID: mdl-36919030

RESUMEN

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.


Asunto(s)
Ataxia Cerebelosa , Ataxia de Friedreich , Masculino , Humanos , Ataxia Cerebelosa/genética , Estudios Prospectivos , Malí , Ataxia de Friedreich/genética , Pruebas Genéticas
16.
J Clin Microbiol ; 49(7): 2590-3, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21543563

RESUMEN

The objective of this study was to compare the performance of the NucliSENS EasyQ HIV-1 v1.2 platform (bioMérieux, France) to the Amplicor HIV-1 DNA test v1.5 (Roche Molecular Systems, Switzerland) in detecting HIV-1 infection in infants using venipuncture-derived whole blood in tubes and dried blood spots. A total of 149 dried blood spots and 43 EDTA-anticoagulated peripheral blood samples were collected throughout Dakar and other areas in Senegal from infants and children aged 3 weeks to 24 months who were born to HIV-1-infected mothers. Samples were tested using the NucliSENS and Amplicor technologies. The NucliSENS and Amplicor results were 100% concordant using either EDTA-anticoagulated peripheral blood or dried blood spots. Compared to Amplicor, the sensitivity and specificity of the NucliSENS test were 100%. The NucliSENS EasyQ HIV-1 RNA assay performed as well as the Amplicor HIV-1 DNA test in detecting HIV-1 infection in infants. In addition, this platform can give an indication of the viral load baseline. The NucliSENS EasyQ platform is a good alternative for early infant diagnosis of HIV-1 infection.


Asunto(s)
ADN Viral/aislamiento & purificación , Infecciones por VIH/diagnóstico , VIH-1/aislamiento & purificación , Técnicas de Diagnóstico Molecular/métodos , ARN Viral/aislamiento & purificación , Juego de Reactivos para Diagnóstico , Virología/métodos , ADN Viral/sangre , ADN Viral/genética , Desecación , Diagnóstico Precoz , VIH-1/genética , Humanos , Lactante , Recién Nacido , ARN Viral/sangre , ARN Viral/genética , Senegal , Sensibilidad y Especificidad , Manejo de Especímenes/métodos
17.
Med Trop (Mars) ; 71(3): 286-8, 2011 Jun.
Artículo en Francés | MEDLINE | ID: mdl-21870560

RESUMEN

OBJECTIVE: In response to the lack of cancer register and paucity of publications on esophageal cancer in Senegal, this retrospective descriptive single-center study was undertaken to determine epidemiological, clinical, endoscopic and histological features of the disease at a digestive endoscopy center in Dakar. PATIENTS AND METHOD: Reports describing upper digestive tract endoscopy procedures performed at the Aristide Le Dantec Teaching Hospital in Dakar between January 2006 and December 2009 were reviewed. Cases involving histologically confirmed esophageal cancer were compiled and patient data including age, sex, and indication for endoscopy as well as endoscopic and histological findings were analyzed. RESULTS: A total of 78 reports were collected including 76 patients with suitable data for analysis. Esophageal cancer accounted for 0.97% of upper digestive tract endoscopy procedures performed. Mean patient age was 49 years and the sex-ratio was 1.9. The main indication for endoscopy was dysphagia (92.1%). The most frequent endoscopic finding involved budding lesions with (42%) or without (29%) ulceration. The most common location was the middle third of the esophagus (50%). The most frequent histological type was squamous cell carcinoma (92.1%). CONCLUSION: Esophageal cancer observed at the endoscopy center of the Aristide Le Dantec Teaching Hospital in Dakar mainly affects young male adults. Lesions are generally located in the middle third of the esophagus and corresponded to squamous cell cancer. There is a need to establish a cancer register and to conduct multicentric studies to gain insight into risk factors for esophageal cancer in Senegal.


Asunto(s)
Neoplasias Esofágicas/patología , Esofagoscopía , Adenocarcinoma/epidemiología , Adenocarcinoma/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/patología , Niño , Trastornos de Deglución/etiología , Neoplasias Esofágicas/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Senegal/epidemiología , Adulto Joven
18.
Med Trop (Mars) ; 71(6): 629-31, 2011 Dec.
Artículo en Francés | MEDLINE | ID: mdl-22393639

RESUMEN

INTRODUCTION: Data about childhood acute lymphoblastic leukemia, the most common childhood malignancy in industrialized countries, are scarce in African publications. The purpose of this prospective, unicentric study were to assess the socio-demographic, clinic and laboratory characteristics of the children treated for lymphoblastic leukemia in our pediatric oncology unit in Gabriel Touré Teaching Hospital in Bamako, Mali. PATIENTS AND METHODS: This study includes all children between 1 and 15 years old treated for cytologically documented acute lymphoblastic leukemia from January 1, 2007 to September 30, 2009. RESULTS: A total of 12 cases including 8 boys and 4 girls (sex ration, 2) were treated during the study period. Mean age was 92 months. Age was less than 4 years old in 2 cases. 5 (41,7%) were between 5 and 9 years in 5 (41.7%) and between 10 to 15 years in five. At the time of presentation, 9 patients (75%) were in a cachectic state; 10 had lymphadenopathies, splenomegaly and hepatomegaly; and 2 had neurological involvement. The delay for definitive diagnosis was 5 months in 4 cases (33,3 %) and less than 5 months in the remaining cases. Initial white blood cell count was more than 50 000/mm3 in 10 cases and less less than 50 000/mm3 in 2 cases. All patients were treated using the LAL GFAOP protocol including LAL1 in 6 cases, LAL2 in 5 and LAL3 in 1. Treatment complications were included 6 undocumented infections in 6 cases, hemorrhage in 2 and severe anemia in 4. Four patients died. At 5 years follow-up, overall survival rate was 66,7%. CONCLUSION: A multicentric study including a greater number of children is needed to increase understanding of the characteristics of childhood acute lymphoblastic leukemia in sub-Saharan Africa.


Asunto(s)
Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Niño , Preescolar , Diagnóstico Tardío/mortalidad , Diagnóstico Tardío/estadística & datos numéricos , Femenino , Estudios de Seguimiento , Hospitalización/estadística & datos numéricos , Humanos , Incidencia , Masculino , Malí/epidemiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidad
19.
Med Trop Sante Int ; 1(3)2021 09 30.
Artículo en Francés | MEDLINE | ID: mdl-35586302

RESUMEN

Introduction: Snakebite envenomation can cause serious damage. Here, we report the case of a six-year-old male child bitten by a snake. Clinical description: The child presented a gingivorrhagia, abdominal pain, bloody vomiting and severe headache from a snakebite. Neurological examination showed paralysis of the III cranial nerve associated with bilateral blindness and mydriasis, unreactive on the right. The brain scan revealed a left frontal hematoma. The course on antivenom was marked by the disappearance of clinical signs except blindness which remained 18 months after discharge. Discussion - Conclusion: The hemorrhagic syndrome evoked viper bite. Blindness is rarely seen as a result of viperine envenomation. In our case, the presence of intracranial hypertension, absence of ocular lesions and scanner were in favor of compression of the optic nerves which resulted in permanent blindness.


Asunto(s)
Accidente Cerebrovascular Hemorrágico , Mordeduras de Serpientes , Antivenenos/uso terapéutico , Ceguera/diagnóstico , Niño , Hemorragia/complicaciones , Humanos , Masculino , Malí , Mordeduras de Serpientes/complicaciones
20.
Mali Med ; 36(3): 63-65, 2021.
Artículo en Francés | MEDLINE | ID: mdl-37973592

RESUMEN

A 37-year-old patient was admitted for a left progressive left-hand hemiparesis associated with left C4-C5 neuralgia preceded by inflammatory neck pain for 04 months and dysphagia for 02 weeks. Magnetic resonance imaging showed C3-C5 spondylodiscitis lesions with epidural abscess and predominantly left lateralized compression of the spinal cord and retropharyngeal abscess. The patient was operated for incision and drainage of the retropharyngeal abscess through the oral cavity and Koch bacillus was demonstrated from the aspirate by molecular technique GeneXpert. The patient was treated anti-tuberculosis drug therapy and we noted a fully neurological and extraneurological recovery.


Un patient de 37 ans a été admis pour un déficit hémicorporel gauche d'installation progressive associé à des névralgies C4 etC5 gauches précédés de cervicalgies inflammatoires depuis 04 mois et de dysphagie depuis 02 semaines. L'imagerie par résonance magnétique a montré des lésions de spondylodiscite C3-C5 avec épidurite et une compression médullaire latéralisée à gauche en regard ainsi qu'un abcès retropharyngé. Le patient a bénéficié d'une incision-drainage de cet abcès à travers la cavité buccale et le bacille de Koch a été isolé dans le pus par la technique moléculaire GeneXpert. Sous traitement médical, l'évolution clinique neurologique et extraneurologique a été favorable.

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