Publications by authors named "Fatoumata Ba"

8 Publications

  • Page 1 of 1

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

Brain 2021 Jul 16. Epub 2021 Jul 16.

AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, France.

Heterozygous missense HTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease whereas the pathogenicity of heterozygous HTRA1 stop codon variants is unclear. We performed a targeted high throughput sequencing of all known cerebral small vessel disease genes, including HTRA1, in 3,853 unrelated consecutive CSVD patients referred for molecular diagnosis. The frequency of heterozygous HTRA1 mutations leading to a premature stop codon in this patient cohort was compared with their frequency in large control databases. An analysis of HTRA1 messenger RNA was performed in several stop codon carrier patients. Clinical and neuroimaging features were characterized in all probands. Twenty unrelated patients carrying a heterozygous HTRA1 variant leading to a premature stop codon were identified. A highly significant difference was observed when comparing our patient cohort with control databases (gnomAD v3.1.1 (p = 3.12 x 10-17, OR = 21.9), TOPMed freeze 5 (p = 7.6 x 10-18, OR = 27.1) and 1000 Genomes (p = 1.5 x 10-5). Messenger RNA analysis performed in eight patients showed a degradation of the mutated allele strongly suggesting a haploinsufficiency. Clinical and neuroimaging features are similar to those previously reported in heterozygous missense mutation carriers, except for penetrance, which seems lower. Altogether, our findings strongly suggest that heterozygous HTRA1 stop codons are pathogenic through a haploinsufficiency mechanism. Future work will help to estimate their penetrance, an important information for genetic counseling.
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July 2021

Susac syndrome: about two cases.

Pan Afr Med J 2019 26;33:145. Epub 2019 Jun 26.

Neurology Unit, Fann National Teaching Hospital, Saint-Louis, Senegal.

Susac syndrome is an autoimmune endothelopathy that affects precapillary arterioles of the brain, retina and inner ear. We report for the first time observations of two patients with Susac syndrome in Senegal.
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October 2019

Half of rifampicin-resistant Mycobacterium tuberculosis complex isolated from tuberculosis patients in Sub-Saharan Africa have concomitant resistance to pyrazinamide.

PLoS One 2017 31;12(10):e0187211. Epub 2017 Oct 31.

Mycobacteriology Unit, Department of Biomedical Sciences, Institute of Tropical Medicine, Antwerp, Belgium.

Background: Besides inclusion in 1st line regimens against tuberculosis (TB), pyrazinamide (PZA) is used in 2nd line anti-TB regimens, including in the short regimen for multidrug-resistant TB (MDR-TB) patients. Guidelines and expert opinions are contradictory about inclusion of PZA in case of resistance. Moreover, drug susceptibility testing (DST) for PZA is not often applied in routine testing, and the prevalence of resistance is unknown in several regions, including in most African countries.

Methods: Six hundred and twenty-three culture isolates from rifampicin-resistant (RR) patients were collected in twelve Sub-Saharan African countries. Among those isolates, 71% were from patients included in the study on the Union short-course regimen for MDR-TB in Benin, Burkina Faso, Burundi, Cameroon, Central Africa Republic, the Democratic Republic of the Congo, Ivory Coast, Niger, and Rwanda PZA resistance, and the rest (29%) were consecutive isolates systematically stored from 2014-2015 in Mali, Rwanda, Senegal, and Togo. Besides national guidelines, the isolates were tested for PZA resistance through pncA gene sequencing.

Results: Over half of these RR-TB isolates (54%) showed a mutation in the pncA gene, with a significant heterogeneity between countries. Isolates with fluoroquinolone resistance (but not with injectable resistance or XDR) were more likely to have concurrent PZA resistance. The pattern of mutations in the pncA gene was quite diverse, although some isolates with an identical pattern of mutations in pncA and other drug-related genes were isolated from the same reference center, suggesting possible transmission of these strains.

Conclusion: Similar to findings in other regions, more than half of the patients having RR-TB in West and Central Africa present concomitant resistance to PZA. Further investigations are needed to understand the relation between resistance to PZA and resistance to fluoroquinolones, and whether continued use of PZA in the face of PZA resistance provides clinical benefit to the patients.
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November 2017

[Lipid and glucose profile in patients with ischemic cerebrovascular accidents in Dakar].

Pan Afr Med J 2016 27;25:29. Epub 2016 Sep 27.

Clinique Neurologique du Centre Hospitalier Universitaire de Fann-Dakar, Sénégal.

Cerebrovascular accident (CVA) is defined as the rapid development of localized or global clinical signs of neurological dysfunction with no apparent cause other than that of vascular origin. A variety of risk factors have been identified and associated with the occurrence of Ischemic CVA, including glucose and lipid metabolism disturbances. We conducted a retrospective study at the Clinic of Neurology, Fann. Our study focused on medical records of patients with ICVA confirmed by imaging, hospitalized from January 1 to December 31 2010. All patients underwent complete lipid profile (total cholesterol, triglycerides, HDL; LDL level was calculated using Friedwald formula), kidney function tests and fasting blood sugar test were performed within 48 hours of admission. Data were analysed using univariate technique and then using bivariate technique tanks to SPSS 16.0 software. We collected 235 files. We here report a case series of patients between ages 10-99 years, with an average age of 67,06 years. Males were 42,55%, sex-ratio was 0,74 in favour of women. 26% of cases had impaired fasting glucose levels during the acute phase of ICVA. The lipid profile showed an increase in total cholesterol level in 52.34% of patients. Low levels of HDL cholesterol were found in 34.47% of patients. Hypertriglyceridemia was only observed in 3% of patients. LDL levels were high in 12,76% of patients. Atherogenicity index was high in 25,53% of patients. Disturbances of blood glucose and lipid profile are often associated with ICVA and should be taken into account to ensure better secondary prevention.
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March 2017

Polymyositis anti-SRP antibodies and pregnancy about 2 cases.

Pan Afr Med J 2016 1;24:192. Epub 2016 Jul 1.

Department of Neurology, CHNU Fann, UCAD, Dakar, Sénégal.

Anti-SRP myopathy represents 4 to 6% of all the inflammatory myopathies. It has been described since the 80s and its influence on pregnancy and vice versa has been highlighted recently. We report two cases of anti-SRP myopathy associated with pregnancy. In the first case, the initial manifestations of the disease started in post partum and the second case was an anti-SRP myopathy patient before pregnancy. In both cases we objectified outbreaks during post-partum. Pregnancy seems to promote outbreaks. The inactive myopathy seems to presents no serious maternal-fetal complications as well as the usual dose of corticosteroids. The treatment (corticosteroid) during pregnancy is indicated given the risk of worsening during the post-partum.
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February 2017

[Prevalence of smoking among 741 High school students from Dakar. Carbon monoxide measurement].

Tunis Med 2015 May;93(5):279-82

Background: Tobacco consumption is a net increase in our areas. In Senegal, as in other African countries, sponsorship of cultural and sporting events in schools promote tobacco use among schoolchildren. Our objective was to assess the prevalence of tobacco in the French School of Jean Mermoz of Dakar by a survey completed by a measurement of carbon monoxide (CO) in expired air.

Methods: seven hundred forty-one students (n = 402 girls and n = 339 boys), aged 11 to 18 years of French and African cultures, participated in the study. A questionnaire with several items of smoking has been distributed to them . Two weeks after the collection of questionnaires, the CO measuring for all students was conducted.

Results: The prevalence of smoking in High School was 23.1% and smoking was found more in boys according to the questionnaire and piCO+TM with 13.7% and 7.1% respectively. It affected over the upper age class or equal to fifteen years. The most mentioned reason for the initiation of smoking (45.4% of smokers) was curiosity with a need to be free, followed by the influence of the environment famial (44.4%) and friendly (20.5%). The measurement of carbon monoxide showed that 12.4% of our subjects had a smoking profile with 8% light smoking, 1% moderate smoking, and severe smoking was 3% of our students. A significant difference (p = 0.0021) between the two prevalences was found.

Conclusion: The carbon monoxide intoxication by tobacco use is responsible for microcirculatory accidents such as tissue hypoxia, whereas smoking affects young students, in which the phenomenon is more precocious. Thus it is urgent to establish a policy of tobacco control in schools.
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May 2015

Shifts in Mycobacterial Populations and Emerging Drug-Resistance in West and Central Africa.

PLoS One 2014 10;9(12):e110393. Epub 2014 Dec 10.

Institute of Tropical Medicine (ITM), Antwerp, Belgium; New York University, New York, United States of America.

In this study, we retrospectively analysed a total of 605 clinical isolates from six West or Central African countries (Benin, Cameroon, Central African Republic, Guinea-Conakry, Niger and Senegal). Besides spoligotyping to assign isolates to ancient and modern mycobacterial lineages, we conducted phenotypic drug-susceptibility-testing for each isolate for the four first-line drugs. We showed that phylogenetically modern Mycobacterium tuberculosis strains are more likely associated with drug resistance than ancient strains and predict that the currently ongoing replacement of the endemic ancient by a modern mycobacterial population in West/Central Africa might result in increased drug resistance in the sub-region.
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October 2017

Effectiveness of a strategy to improve adherence to tuberculosis treatment in a resource-poor setting: a cluster randomized controlled trial.

JAMA 2007 Jan;297(4):380-6

Institut de Recherche pour le Développement, Programme Tuberculose, Dakar, Senegal.

Context: Poor adherence to treatment remains a major obstacle to efficient tuberculosis (TB) control in developing countries. Innovative strategies to improve access and adherence to treatment are needed.

Objectives: To assess the effectiveness of a contextualized intervention strategy aimed at improving patients' adherence to treatment and to evaluate its impact on TB control in a resource-poor country in Africa with prevalent TB infection.

Design, Setting, And Patients: A cluster randomized controlled trial, conducted between June 2003 and January 2005, at 16 government district health centers in Senegal. Patients older than 15 years with newly diagnosed sputum smear-positive pulmonary TB were randomly assigned to the intervention or control group.

Intervention: The intervention strategy included reinforced counseling through improved communication between health personnel and patients, decentralization of treatment, choice of directly observed therapy (DOT) supporter by the patient, and reinforcement of supervision activities. In the control group, the usual TB control program procedures remained unchanged.

Main Outcome Measure: Proportion of patients successfully completing the 8-month course of treatment and the proportion of patients defaulting from treatment.

Results: A total of 1522 patients were recruited into the study. Treatment was successful for 682 (88%) of 778 patients recruited in the intervention group, and for 563 (76%) of 744 patients recruited in the control group (adjusted risk ratio [RR], 1.18; 95% confidence interval [CI], 1.03-1.34). The proportion of patients defaulting was reduced in the intervention group to 5.5% (n = 43) compared with 16.8% (n = 125) in the control group (adjusted RR, 0.43; 95% CI, 0.21-0.89).

Conclusion: The intervention package based on improved patients counseling and communication, decentralization of treatment, patient choice of DOT supporter, and reinforcement of supervision activities led to improvement in patient outcomes compared with the usual TB control procedures. This approach may be generalized in the context of TB control programs in resource-poor countries.

Trial Registration: Identifier: NCT00412009.
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January 2007