Publications by authors named "Ba I"

Background: Little data exists on the use of cocaine, methamphetamine, tramadol and heroin or related health conditions in Guinea Bissau. We aimed to estimate drug use practices and the prevalence of selected blood-borne infections, depression and population size estimates of people who use injectable drugs in Guinea-Bissau.

Methods: We used respondent-driven sampling to recruit adults who use injectable drugs in this cross sectional survey in three cities (Bissau, Bafatá and Gabú) between July and September 2022.

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Background: Female sex workers are disproportionately affected by sexual violence, which is associated with an increased risk of poor mental health outcomes, substance use, and decreased access to health resources. Understanding the pathways through which sexual violence impacts these outcomes can inform strategies that appropriately and effectively meet the health needs of sex workers.

Methods: This study investigated the prevalence of sexual violence among female sex workers in Côte d'Ivoire, and the relationship between sexual violence and adverse mental health and substance use outcomes.

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Article Synopsis
  • The study examines the blood-related characteristics and overall prognosis of 127 patients with telomere biology disorders (TBD) who were diagnosed after age 15, highlighting a lack of data on this topic.
  • At diagnosis, significant haematological issues were present in nearly 76% of patients, with bone marrow failure (BMF) being the most common, affecting 46.5% of the cases, while some patients also developed additional complications over time.
  • The findings suggest that BMF patients tend to be younger and have a better survival rate compared to those with higher-risk blood cancers, indicating TBD as a complex multi-organ disease needing further research on its evolutionary nature and outcomes.
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Premature telomere shortening or telomere instability is associated with a group of rare and heterogeneous diseases collectively known as telomere biology disorders (TBDs). Here we identified two unrelated individuals with clinical manifestations of TBDs and short telomeres associated with the identical monoallelic variant c.767A>G; Y256C in Although the replication protein A2 (RPA2) mutant did not affect ssDNA binding and G-quadruplex-unfolding properties of RPA, the mutation reduced the affinity of RPA2 with the ubiquitin ligase RFWD3 and reduced RPA ubiquitination.

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Article Synopsis
  • The identification of extra-pulmonary symptoms is vital for diagnosing interstitial lung disease (ILD), as these symptoms can indicate both autoimmune and genetic disorders.
  • Recent findings show that genetic mutations related to telomeres and surfactants are key contributors to ILD, with telomere mutations being linked to syndromic pulmonary fibrosis and various other organ manifestations.
  • The review highlights the importance of recognizing signs of telomeropathy to facilitate the analysis of genetic mutations, especially in familial cases of pulmonary fibrosis and other related syndromic diseases.
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In Senegal, violent delinquency and illicit drug use are on the increase. This study focuses on two distinct groups: drug users (DUs) undergoing rehabilitation and violent ex-offenders (VEs). The methodology adopted includes a quantitative survey of the general population (n=1009), followed by a qualitative survey of fifteen participants, including eight DUs undergoing treatment at the Centre de prise en charge intégrée des addictions de Dakar (CEPIAD) (Integrated Addictions Management Center of Dakar) and the Centre Jacques Chirac de Thiaroye, and seven former VEs from the Grand Yoff district.

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Background: Several rare surfactant-related gene (SRG) variants associated with interstitial lung disease are suspected to be associated with lung cancer, but data are missing. We aimed to study the epidemiology and phenotype of lung cancer in an international cohort of SRG variant carriers.

Methods: We conducted a cross-sectional study of all adults with SRG variants in the OrphaLung network and compared lung cancer risk with telomere-related gene (TRG) variant carriers.

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Article Synopsis
  • Telomeres are protective structures at the ends of chromosomes, and telomerase, a complex essential for maintaining their length, is affected by genetic defects, leading to rare disorders known as telomere biology disorders (TBDs).
  • This study presents four unrelated individuals with TBDs related to mutations in the ACD gene, which encodes TPP1, highlighting specific mutations that impair telomerase activity and disrupt telomere stability.
  • The research also identifies potential genetic patterns in the ACD gene and a mutation in one patient's cells that may provide a survival advantage, expanding understanding of the consequences of TPP1 deficiency on telomere maintenance.
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Background And Aim: Germline mutations of telomere-related genes (TRG) induce multiorgan dysfunction, and liver-specific manifestations have not been clearly outlined. We aimed to describe TRG mutations-associated liver diseases.

Approach And Results: Retrospective multicenter analysis of liver disease (transaminases > 30 IU/L and/or abnormal liver imaging) in patients with TRG mutations.

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Aims: The differential diagnosis of small hepatocellular nodules in cirrhosis between dysplastic nodules and hepatocellular carcinoma (HCC) remains challenging on biopsy. As TERT promoter (pTERT) mutations may indicate the nodules already engaged in the malignant process, the aim of this study was to identify histological criteria associated with pTERT mutations by detecting these mutations by ddPCR in small formalin-fixed paraffin-embedded (FFPE) hepatocellular nodules arising in cirrhosis.

Methods And Results: We built a bicentric cohort data set of 339 hepatocellular nodules < 2 cm from cirrhotic samples, divided into a test cohort of 299 resected samples and a validation cohort of 40 biopsies.

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The sexual and reproductive health needs of female sex workers (FSW) are often understudied and underserved in the context of HIV-related research in countries across Sub-Saharan Africa and West Africa. We assessed the lived experiences of FSW across Côte d'Ivoire to characterize unmet reproductive health needs and opportunities to address them. From February-August, 2020, ENDA Santé, Côte d'Ivoire conducted 75 in-depth interviews and 15 focus group discussions with FSW and community informants in five cities in Côte d'Ivoire.

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Climatic variability and the scarcity of rainfall have intensified the process of soil salinization, leading to land degradation and loss of rice yield. A field experiment was conducted to study the effect of cultural mode and organo-mineral fertilizers on rice performance and soil chemical properties. A split plot design with four replications and two factors that were cultural mode (flat and ridge) and fertilizers (mineral, organic, organo-mineral, and control) was carried out.

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Article Synopsis
  • - Somatic mutations in the TERT promoter are commonly found in urothelial cancer, and detecting these mutations in urine could serve as a promising non-invasive way to identify and monitor the disease.
  • - The study developed highly sensitive droplet digital PCR (ddPCR) assays to effectively detect specific TERT promoter mutations in urine samples, focusing on both common and rare mutations.
  • - The paper outlines a detailed protocol for using ddPCR to screen for these mutations in urine, discusses the limitations of detection for the most frequent mutations, and emphasizes the method's potential benefits for clinical use in urothelial cancer diagnostics.
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Background: Few assessments of associations between structural-level factors and HIV among gay men and other men who have sex with men (MSM) have been conducted, especially in sub-Saharan Africa. Our objective was to examine HIV testing history, HIV status, and stigmas among MSM living in ten countries with heterogeneous legal environments.

Methods: This study used pooled data from ten country-specific, cross-sectional studies done in 25 sites in Burkina Faso, Cameroon, Côte d'Ivoire, The Gambia, Guinea-Bissau, Nigeria, Senegal, Eswatini, Rwanda, and Togo.

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Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis.

Aim: The aim of the present study is to overview the clinical significance of genetics in IPF.

Perspective: It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease.

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Bladder cancer (BC) is the 10th most common cancer in the world. While there are FDA-approved urinary assays to detect BC, none have demonstrated sufficient sensitivity and specificity to be integrated into clinical practice. Telomerase Reverse Transcriptase () gene mutations have been identified as the most common BC mutations that could potentially be used as non-invasive urinary biomarkers to detect BC.

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Almost 25% of patients with pulmonary fibrosis referred for lung transplantation have a germline rare variant of a telomere-related gene. Acquired TERT promoter mutations may counterbalanced the germline defect and reduce the risk of hematological complications in this population. In a series of 34 patients with a germline telomere-related gene mutation who underwent lung transplantation, 12 (35%) patients had at least 1 acquired TERT promoter mutation.

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Article Synopsis
  • Genetic studies have identified telomere-related gene (TRG) mutations in about 30% of familial interstitial lung disease (ILD) cases, affecting various genes like TERT and DKC1.
  • Patients with TRG mutations may experience additional symptoms beyond lung issues, impacting immune systems, liver, and skin.
  • These mutations are linked to more severe lung decline and worse outcomes after lung transplants, highlighting the need for environmental awareness and genetic counseling for patients and their families.
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Background: Monogenic and polygenic inheritances are evidenced for idiopathic pulmonary fibrosis (IPF). Pathogenic variations in surfactant protein-related genes, telomere-related genes (TRGs), and a single-nucleotide polymorphism in the promoter of MUC5B gene encoding mucin 5B (rs35705950 T risk allele) are reported. This French-Greek collaborative study, Gen-Phen-Re-GreekS in inheritable IPF (iIPF), aimed to investigate genetic components and patients' characteristics in the Greek national IPF cohort with suspected heritability.

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Background And Objective: Poly(A)-specific ribonuclease (PARN) mutations have been associated with familial pulmonary fibrosis. This study aims to describe the phenotype of patients with interstitial lung disease (ILD) and heterozygous PARN mutations.

Methods: We performed a retrospective, observational, non-interventional study of patients with an ILD diagnosis and a pathogenic heterozygous PARN mutation followed up in a centre of the OrphaLung network.

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Background: For men who have sex with men (MSM) across sub-Saharan Africa (SSA), disclosure of same-sex practices to family and healthcare workers (HCWs) can facilitate access to HIV prevention services and support, but can also lead to experiences of stigma.

Methods: We performed mixed-effects regressions on pooled data from MSM in Cameroon, Senegal, Côte d'Ivoire, Lesotho, and eSwatini to assess associations between disclosure and sexual behavior stigma in healthcare contexts; we used logistic regressions to analyze country-specific data.

Results: Compared to participants who had not disclosed to either family or HCWs, those who had disclosed only to family were more likely to have been gossiped about by HCWs (aOR = 1.

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Carriers of germline telomerase-related gene (TRG) mutations can show poor prognosis, with an increase in common hematological complications after lung transplantation (LT) for pulmonary fibrosis. The aim of this study was to describe the outcomes after LT in recipients carrying a germline TRG mutation and to identify the predictors of survival. In a multicenter cohort of LT patients, we retrospectively reviewed those carrying pathogenic TRG variations (n = 38; TERT, n = 23, TERC, n = 9, RTEL1, n = 6) between 2009 and 2018.

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Introduction: after a pilot phase, Senegal is the first country in West Africa to introduce cervical cancer vaccine into its Expanded Program on Immunization. Despite the gratuity and availability of the vaccination, coverage was low. The purpose of this study was to identify factors associated with HPV vaccination coverage in girls .

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