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Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years ago, studies have been reported worldwide. However, genetically confirmed cases have been scarce in Africa. Objective: To describe the clinical and genetic aspects of HD in the Malian population. Methods: Patients with HD phenotype and their relatives were enrolled after obtaining consent. Symptoms were assessed using the Total Motor Scale (TMS) of the United Huntington’s Disease Rating Scale (UHDRS) and the Mini-Mental State Examination (MMSE). Brain imaging and blood tests were performed to exclude other causes. DNA was extracted for HTT sequencing. Results: Eighteen patients (13 families) with a HD phenotype were evaluated. A familial history of the disease was found in 84.6% with 55.5% of maternal transmission. The average length of the HTT CAG repeat was 43.6±11.5 (39–56) CAGs. The mean age at onset was 43.1±9.7years. Choreic movements were the predominant symptoms (100% of the cases) with an average TMS of 49.4±30.8, followed by cognitive impairment (average MMSE score: 23.0±12.0) and psychiatric symptoms with 22.2% and 44.4%, respectively. Conclusion: This is one of the largest HD cohorts reported in Africa. Increasing access to genetic testing could uncover many other HD cases and disease-modifying genetic variants. Future haplotype and psychosocial studies may inform the origin of the Malian mutation and the impact of the disease on patients and their relatives.

Background Schizophrenia is a relatively common disease worldwide with a point prevalence of around 5/1000 in the population. The aim of this present work was to assess the demographic, clinical, familial, and environmental factors associated with schizophrenia in Mali. Methods This was a prospective descriptive study on a series of 164 patients aged at least 12 years who came for a follow-up consultation at the psychiatry department of the University Hospital Center (CHU) Point G in Mali between February 2019 and January 2020 for schizophrenia spectrum disorder as defined by DSM-5 diagnostic criteria. Results Our results revealed that the male sex was predominant (80.5%). The 25–34 age group was more represented with 44.5%. The place of birth for the majority of our patients was the urban area (52.4%), which also represented the place of the first year of life for the majority of our patients (56.1%). We noted that the unemployed and single people accounted for 56.1 and 61% respectively. More than half of our patients 58.5% reported having reached secondary school level. With the exception of education level, there was a statistically significant difference in the distribution of demographic parameters. Familial schizophrenia cases accounted for 51.7% versus 49.3% for non-familial cases. The different clinical forms were represented by the paranoid form, followed by the undifferentiated form, and the hebephrenic form with respectively 34, 28 and 17.1%. We noted that almost half (48.8%) of patients were born during the cold season. Cannabis use history was not observed in 68.7% of the patients. The proportions of patients with an out-of-school father or an out-of-school mother were 51.2 and 64.2%, respectively. Conclusion The onset of schizophrenia in the Malian population has been associated with socio-demographic, clinical, genetic and environmental characteristics.

The practice of excision in girls poses a significant risk to their health. The objective of this study was to determine the immediate acute complications associated with this practice.This was a retrospective descriptive study over a period of 15 months including all girls aged 0-15 years hospitalized for acute complications related to excision within 7 days of the practice in the pediatric department of the University Hospital Gabriel Toure.We collected 17 patient files. The median consultation time was 43 h. The main reason for consultation was post-excision bleeding in 76.4% of the cases. Pallor associated with respiratory distress was found in almost all cases. On admission, four girls (23.5%) were comatose and five girls (29.4%) showed signs of shock. The reasons for hospitalization were hemorrhage associated with post-excisional sepsis (52.9%), complicated shock anemia (23.5%), and severe post-excision anemia (23.5%). The average hemoglobin level was 5.5 g/dL; there was severe anemia in 94.1% of the girls (Hb7g/dl). All the girls received blood transfusions with red blood cell concentrate. The other treatments received were local care (100%), administration of analgesics (100%), antibiotic therapy (82.4%), and oxygen therapy (41.2%). The outcome was unfavorable in two patients (11.8% deaths).This study shows the seriousness of the immediate complications associated with the practice of excision.

The closure anomalies of the peritoneal-vaginal canal include several clinical entities, which are at the origin of various symptomatology.To study the anatomo-clinical and therapeutic aspects of pathologies of the peritoneal-vaginal canal.This was a prospective study from January 1During the study period, 2,699 children were treated in pediatric surgery, of which 150 cases of pathology of the peritoneal-vaginal canal had a hospital frequency of 5.5%. The average age was 3.25 ± 9.63 years. The sex ratio was 14. The reason for consultation was intermittent or permanent inguinal or inguino-scrotal swelling in all children. The pathology was discovered by the parents during the pushing efforts in 46.7%. Inguino-scrotal swelling was found on physical examination in 40% of cases. The right side was reached in 60% of the cases. Hernia accounted for 80.6% of these pathologies. We recorded 31 cases of strangulation and 11 cases of craze. Immediate operative follow-up was simple in 92% of patients. This rate was 96% after 6 months.Pathologies of the peritoneal-vaginal canal are very common in pediatric surgical practice. The first place of these pathologies is occupied by hernia. They preferentially affect male infants.Les anomalies de fermeture du canal péritonéo-vaginal (CPV) regroupent plusieurs entités cliniques qui sont à l'origine d'une symptomatologie variée.étudier les aspects anatomo-cliniques et thérapeutiques des pathologies du canal péritonéo-vaginal.il s'agissait d'une étude prospective du 1er Janvier au 31 Décembre 2015 réalisée dans le service de chirurgie pédiatrique du CHU Gabriel Touré. Elle a porté sur tous les enfants de 0-15 ans présentant une pathologie du canal péritonéo-vaginal opérés dans le service pendant la période d'étude. N'ont pas fait partie de cette étude, les cas non opérés et ou non vus pendant la période d'études.Durant la période d'étude 2699 enfants ont été pris en charge en chirurgie pédiatrique dont 150 cas de pathologies du canal péritonéo-vaginal soit une fréquence hospitalière de 5,5%. L'âge moyen était de 3,25± 9,63 ans. Le sexe ratio était de 14. Le motif de consultation était la tuméfaction inguinale ou inguino-scrotale intermittente ou permanente chez tous les enfants. La pathologie a été découverte par les parents lors des efforts de poussées dans 46,7%. La tuméfaction inguino-scrotale a été retrouvée à l'examen physique dans 40% des cas. Le côté droit était atteint dans 60% des cas. La hernie a représenté 80,6% de ces pathologies. Nous avons enregistré 31 cas d'étranglement et 11 cas d'engouement. Les suites opératoires immédiates ont été simples chez 92% des patients. Ce taux était de 96% après 6 mois.Les pathologies du CPV sont très fréquentes dans la pratique chirurgicale pédiatrique. La première place de ces pathologies est occupée par la hernie. Elles touchent préférentiellement les nourrissons de sexe masculin.

Introduction : Les infections respiratoires aiguës (IRA) constituent l'une des principales causes de morbidité et de mortalité infantile au Mali. L'objectif de ce travail était de décrire les aspects épidémiologiques, cliniques et thérapeutiques de la bronchiolite aiguë du nourrisson au service de pédiatrie du CHU Gabriel Touré. Méthodologie: Il s'agit d'une étude rétrospective portant sur 112 nourrissons âgés de 1 à 24 mois hospitalisés dans le service de pédiatrie générale pour bronchiolite aiguë. L'étude s'étalait sur une période d'un an (du 1er janvier au 31 décembre 2012). Résultats: Les nourrissons âgés de 1 à 6 mois étaient majoritaires (69%). L'âge moyen des patients était de 6 mois avec des extrêmes de 1 et 24 mois. Le sexe masculin était prédominant (63%) avec un sex-ratio de 1,73. Le principal motif de consultation était la difficulté respiratoire (87%). Le pic d'hospitalisation était au mois de novembre (33%). Les principaux signes cliniques en plus des sibilants étaient la toux, la rhinorrhée et la détresse respiratoire (97%). La fièvre était présente dans 38% des cas et la cyanose chez 4% des patients. La saturation en oxygène était inférieure à 94% chez 50% des patients. La kinésithérapie respiratoire a été faite chez un tiers des malades. Tous les malades avaient reçu une corticothérapie et une nébulisation avec du salbutamol et sérum physiologique. Une antibiothérapie a été faite chez 85% des patients. La durée moyenne d'hospitalisation était de 6 jours avec des extrêmes de 1 et 30 jours. Le taux de guérison était de 98 %. Conclusion : La bronchiolite est une pathologie bénigne et fréquente chez le nourrisson de 1 à 6 mois qui évolue favorablement dans la majorité des cas.

Evaluer l’épidémiologie du paludisme dans une cohorte randomisée d’enfants de 6 mois à 6 ans vivant dans deux villages à transmission palustre différente : Sotuba et Doneguébougou, Mali. Nous avons mené une étude de cohorte prospective avec un suivi longitudinal couplé de passages mensuels transversaux sur la chimioprophylaxie anti palustre. C’est une étude basée sur le choix d’un site potentiel pour le vaccin anti palustre de phase I. La randomisation a été faite sur le logiciel SPSS afin de repartir les sujets inclus en deux groupes par site. La chimio prophylaxie a été faite avec la chloroquine + Proguanil (CQ + PG). Le sex-ratio M/F était de 1,20 et 1,03 respectivement à Donéguébougou et Sotuba. L’indice plasmodique (IP) n’indiquait pas de variation significative (p= 0,50) entre les deux sites. L’indice splénique (IS) à l’inclusion montrait une variation significative entre les deux sites (p=0,0005). L’introduction de la chimio prophylaxie au cours des mois d’août et de septembre montre que la prémunition s’installait progressivement pendant les autres mois du suivi. L’incidence du paludisme étaitplus élevée à Donéguébougou (41,4 %) qu’à Sotuba (18.3 %). Ce qui était en rapport avec l’hyper endémicité palustre de Donéguébougou et la méso endémicité de Sotuba. Aucun enfant des 2 groupes à Sotuba n’avait été enregistré dans les accès 2. Dans le groupe contrôle deux enfants étaient allés au deuxième accès à Donéguébougou contre quatre à Sotuba. Les enfants sous chimio prophylaxie faisaient moins d’épisodes palustres que ceux du groupe contrôle. Le taux d’anthropophilie moyen d’An.gambiae Sl. à Donéguébougou (92.7%, n=2390) était comparable à celui observé à Sotuba (87,6%, n= 873) pour le même vecteur (p=0,000005).La chimioprophylaxie avait eu un effet significatif sur les indices paludométriques au niveau des deux sites. L’indice plasmodique était significativement différent, alors que le taux d’anthropophilie moyen restait comparable dans les deux sites. Donéguébougou pourrait être un bon site pour l’essai vaccinal de phase I. Les espèces An. gambiae sl, et An. funestus étaient les principaux vecteurs de la transmission.

Introduction Despite significant progress in the field of scientific research on Parkinson's disease (PD), the prevalence and pathophysiology of its non-motor signs remains less understood than the classic motor signs of bradykinesia, rigidity, tremor and postural instability. Data covering this topic are rare in Africa, and almost non-existent in sub-Saharan Africa. Thus, this study aims to highlight the frequency of certain non-motor signs in PD patients followed in the Department of Neurology of the University Hospital Point "G", Bamako, Mali. Methodology This is a retrospective and descriptive study from January 2012 to November 2013. We identified records of patients with dopamine-responsive idiopathic Parkinson's disease, and quantified associated non-motor symptoms. Data were analyzed with Epi-Info 2000 version 3.5.5. Result During this period we reviewed 60 patient charts of which 68.3% were men. The average age of patients was 66.51 ranging from 25 to 94years. Non-motor symptoms were present in 90% of cases, including sensitive disorders in 76.7%, dysautonomia in 73.3%, and psycho-behavioral disorders, including sleep disorders, in 81.7%. Conclusion At the end of this study, we observed an important place for non-motor signs in the clinical manifestation of PD patients in general.

Erythrocyte G6PD deficiency is the most common worldwide enzymopathy. The aim of this study was to determine erythrocyte G6PD deficiency in 3 ethnic groups of Mali and to investigate whether erythrocyte G6PD deficiency was associated to the observed protection against malaria seen in Fulani ethnic group. The study was conducted in two different areas of Mali: in the Sahel region of Mopti where Fulani and Dogon live as sympatric ethnic groups and in the Sudanese savannah area where lives mostly the Malinke ethnic group. The study was conducted in 2007 in Koro and in 2008 in Naguilabougou. It included a total 90 Dogon, 42 Fulani and 80 Malinke ethnic groups. Malaria was diagnosed using microscopic examination after Giemsa-staining of thick and thin blood smear. G6PD deficiency (A-(376/202)) samples were identified using RFLP (Restriction Fragment Length Polymorphism) assay and analysis of PCR-amplified DNA amplicon. G6PD deficiency (A-(376/202)) rate was 11.1%, 2.4%, and 13.3% in Dogon, Fulani, and Malinke ethnic group respectively. Heterozygous state for G6PD (A-(376/202)) was found in 7.8% in Dogon; 2.4% in Fulani and 9.3% in Malinke ethnic groups while hemizygous state was found at the frequency of 2.2% in Dogon and 4% in Malinke. No homozygous state was found in our study population.We conclude that G6PD deficiency is not differing significantly between the three ethnic groups, Fulani, Dogon and Malinke.

To describe maternal and fetal complications during delivery of mutilated women.It was a case study, witnesses with matching going from February 1st, 2008 till January 31st, 2009 which took place in Mopti's region. We compared maternal and fetal complications of mutilated and non-mutilated women. Using statistical tests were Chi(2) (P0.05), Odd-Ratio (OR) and its 95% confident interval (CI95%).We recorded 410 deliveries among which 280 mutilated women (68%). One hundred and forty excised women were included. There is a significant difference between duration of eviction30 mm (RC=8.27 [4.66-14.76], P0.001); simple perennials lacerations (RC=14.54 [4.79-49.56], P0.001) and full perennials lacerations (RC=8.90 [1.91-57.23], P0.001) in the two groups. The scores of morbid Apgar (RC=9.70 [4.35-22,29], P0.001) were more important in groups of cases. Moreover, we recorded 3 neonatal deaths and 4 complicated perennials lacerations in the group of cases only.Maternal and fetal complications are significantly more important for the excised woman's than for the not excised women.

Studies performed in Burkina Faso and Mali showed differences in susceptibility to malaria between the Fulani and other sympatric ethnic groups, the Mossi and Dogon. We carried out a longitudinal survey and three cross-sectional studies from 2003 to 2005 in order to assess the prevalence of anemia in Dogon and Fulani. The distribution of the study population by sex was comparable between the two ethnic groups (p = ns). The Fulani are mainly cattle breeders and the Dogons, farmers. They were exposed to similar entomological inoculation rates, and studies on "knowledge, attitude, and practices" showed no difference between the two ethnic groups. The cross-sectional studies were performed during the intense malaria transmission season (in September 2003 and 2005) and during the dry season (in March 2004). Longitudinal clinical follow-up studies were performed from August to December 2005 using the WHO 28 days in vivo test, after administration of a curative dose of antimalarial drugs to patients with mild malaria. During the cross-sectional studies, both Fulani men and women had significantly lower hemoglobin levels than their Dogon counterparts; this difference was most evident in the women (in 2005: 9.4 g/dl in Fulani vs 10.7 g/dl in Dogon, p = 0.0002). Clinical longitudinal follow-up data showed that Fulani children aged 10-14 years have lower hemoglobin levels than Dogon children. At day 0, the mean of hemoglobin level was 9.6 g/dl in Dogon children vs. 8.7 g/dl in Fulani children (p = 0.01). At day 28, after malaria treatment, we also observed a significant difference in hemoglobin levels in children (10.6 g/dl in Dogon vs 9.3 g/dl in Fulani, p0.001). A stronger association between anemia and spleen enlargement was found in the Fulani (53.2% with spleen enlargement) than in the Dogon (32.9%) [p = 0.005]. The Fulani suffer more from anemia than the Dogon, despite their lower susceptibility to malaria. The difference in anemia between Dogon and Fulani must be further investigated to determine possible factors involved in malaria susceptibility.

Malaria infection during pregnancy is associated with adverse consequences including low birth weight (LBW) and maternal anemia, particularly in primigravidae and secundigravidae. In preparation for a clinical trial of the efficacy of chloroquine (CQ) and sulfadoxine-pyrimethamine (SP) containing prevention regimens during pregnancy, we conducted a one-year cross sectional study in Koro and Bandiagara, Mali using an assessment methodology developed by the Centers for Disease Control and Prevention (CDC) to generate basic data on malarial burden during pregnancy. Two hundred and sixty-one and 192 women were enrolled in Koro and Bandiagara, respectively. Rates of placental parasitemia were 17.1 and 42.3% in Koro and Bandiagara, respectively, despite high (70-80%) use of preventive medication (mainly CQ). Low gravidity (1st and 2nd pregnancies) was associated with peripheral (p

We compared malaria indicators among sympatric groups to study human heterogeneities in the response to Plasmodium falciparum malaria infection. Four cross-sectional surveys and two longitudinal surveys in two sympatric ethnic groups (Dogon and Fulani) in Mali were carried out from 1998 to 2000. Spleen and parasite rates were evaluated during the cross-sectional surveys and disease incidence was assessed during longitudinal surveys. In spite of similar sociocultural factors and entomologic inoculation rates between ethnic groups, the Fulani had a significantly higher spleen enlargement rate, lower parasite rate, and were less affected by the disease than the Dogon group, whose frequency of hemoglobin C was higher than that recorded among the Fulani group. The Fulani group had significantly higher levels of IgG and IgE against crude malaria antigen than the Dogon group, suggesting a role of anti-malaria antibodies in the immune protection seen in this group.

The high resistance to malaria in the nomadic Fulani population needs further understanding. The ability to cope with multiclonal Plasmodium falciparum infections was assessed in a cross-sectional survey in the Fulani and the Dogon, their sympatric ethnic group in Mali. The Fulani had lower parasite prevalence and densities and more prominent spleen enlargement. Spleen rates in children aged 2-9 years were 75% in the Fulani and 44% in the Dogon (P0.001). There was no difference in number of P. falciparum genotypes, defined by merozoite surface protein 2 polymorphism, with mean values of 2.25 and 2.11 (P=0.503) in the Dogon and Fulani, respectively. Spleen rate increased with parasite prevalence, density and number of co-infecting clones in asymptomatic Dogon. Moreover, splenomegaly was increased in individuals with clinical malaria in the Dogon, odds ratio 3.67 (95% CI 1.65-8.15, P=0.003), but not found in the Fulani, 1.36 (95% CI 0.53-3.48, P=0.633). The more susceptible Dogon population thus appear to respond with pronounced spleen enlargement to asymptomatic multiclonal infections and acute disease whereas the Fulani have generally enlarged spleens already functional for protection. The results emphasize the importance of spleen function in protective immunity to the polymorphic malaria parasite.

The Fulani are known to be less susceptible to Plasmodium falciparum malaria infections and to have lower parasitaemia despite living under similar malaria transmission intensity compared with other ethnic tribes. The aim of the present study was to examine whether the Fulani were more polarised towards Th2 as reflected by higher numbers of malaria-specific IL-4- and IL-10-producing cells and lower numbers of IFN-gamma- and IL-12-producing cells as compared to their neighbour ethnic tribe, the Dogon of Mali. Total IgE and both anti-malaria IgE and IgG antibodies were measured by ELISA and the numbers of IL-4-, IFN-gamma-, IL-10- and IL-12-producing cells were enumerated using enzyme-linked ImmunoSpot assay (ELISPOT). Numbers of parasite clones were detected by polymerase chain reaction (PCR). The study was performed outside the transmission period and all individuals included were asymptomatic. The results revealed that the Fulani were less parasitised, had fewer circulating parasite clones in their blood, had significantly higher anti-malaria IgG and IgE antibodies and higher proportions of malaria-specific IL-4- and IFN-gamma-producing cells compared to the Dogon. The higher antigen-specific production of IL-4 among the Fulani was statistically significant both before and after adjustment for level of spontaneous cytokine production, while greater IFN-gamma production only attained statistical significance after adjustment for spontaneous levels. Taken together, the association of higher anti-malarial IgE and IgG antibodies and increased numbers of specific IL-4- and IFN-gamma-producing cells compared to the ethnic sympatric tribe, the Dogon, may assist in explaining the lower susceptibility to malaria observed in the Fulani.

Contains fulltext : 80219.pdf (Publisher’s version ) (Open Access) BACKGROUND: Caspase-12 functions as an antiinflammatory enzyme inhibiting caspase-1 and the NOD2/RIP2 pathways. Due to increased susceptibility to sepsis in individuals with functional caspase-12, an early-stop mutation leading to the loss of caspase-12 has replaced the ancient genotype in Eurasia and a significant proportion of individuals from African populations. In African-Americans, it has been shown that caspase-12 inhibits the pro-inflammatory cytokine production. METHODOLOGY/PRINCIPAL FINDINGS: We assessed whether similar mechanisms are present in African individuals, and whether evolutionary pressures due to plague may have led to the present caspase-12 genotype population frequencies. No difference in cytokine induction through the caspase-1 and/or NOD2/RIP2 pathways was observed in two independent African populations, among individuals with either an intact or absent caspase-12. In addition, stimulations with Yersinia pestis and two other species of Yersinia were preformed to investigate whether caspase-12 modulates the inflammatory reaction induced by Yersinia. We found that caspase-12 did not modulate cytokine production induced by Yersinia spp. CONCLUSIONS: Our experiments demonstrate for the first time the involvement of the NOD2/RIP2 pathway for recognition of Yersinia. However, caspase-12 does not modulate innate host defense against Y. pestis and alternative explanations for the geographical distribution of caspase-12 should be sought.

A new method for iodine deficiency disorders prevention is tested during one year in a rural area of Mali. Silicone and sodium iodide made diffusers are set up inside 2 villages' drillings. Their efficiency is compared with a placebo. Supervision criteria are evolution of goiter, rates of iodine in water and ioduria of the population, specially women and children. In the treated villages a decrease of goiters' size of the younger people is observed. Iodine rates in treated drillings water stay during 12 months between 150 and 300 micrograms/l with a minimum intake of 150 micrograms/day/person. The means of ioduria rates from less than 25 micrograms/l before treatment (severe deficiency) increase to more than 100 micrograms/l after six months of treatment (no deficiency).