Inflammatory breast cancer in north Africa: comparison of clinical and molecular epidemiologic characteristics of patients from Egypt, Tunisia, and Morocco.
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ABSTRACT:
SUBMITTER: Soliman AS
PROVIDER: S-EPMC4291062 | biostudies-other | 2011-2012
REPOSITORIES: biostudies-other
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Project description:BackgroundKey discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022-2035) which aims to deliver the reference sequence of the Tunisian Genome and to support the implementation of personalized medicine in Tunisia, a North African country that represents a central hub of population admixture and human migration between African, European, and Asian populations. The main goal of this initiative is to develop a healthcare system capable of incorporating omics data for use in routine medical practice, enabling medical doctors to better prevent, diagnose, and treat patients.MethodsA multidisciplinary partnership involving Tunisian experts from different institutions has come to discern all requirements that would be of high priority to fulfill the project's goals. One of the most urgent priorities is to determine the reference sequence of the Tunisian Genome. In addition, extensive situation analysis and revision of the education programs, community awareness, appropriate infrastructure including sequencing platforms and biobanking, as well as ethical and regulatory frameworks, have been undertaken towards building sufficient capacity to integrate personalized medicine into the Tunisian healthcare system.ResultsIn the framework of this project, an ecosystem with all engaged stakeholders has been implemented including healthcare providers, clinicians, researchers, pharmacists, bioinformaticians, industry, policymakers, and advocacy groups. This initiative will also help to reinforce research and innovation capacities in the field of genomics and to strengthen discoverability in the health sector.ConclusionsGenome Tunisia is the first initiative in North Africa that seeks to demonstrate the major impact that can be achieved by Human Genome Projects in low- and middle-income countries to strengthen research and to improve disease management and treatment outcomes, thereby reducing the social and economic burden on healthcare systems. Sharing this experience within the African scientific community is a chance to turn a major challenge into an opportunity for dissemination and outreach. Additional efforts are now being made to advance personalized medicine in patient care by educating consumers and providers, accelerating research and innovation, and supporting necessary changes in policy and regulation.
| S-EPMC11348534 | biostudies-literature
Project description:BackgroundTunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities.MethodWe report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory.ResultsWe identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic epidermolysis bullosa and xeroderma pigmentosa.ConclusionThis report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for molecular diagnosis. Indeed, our report should help designing appropriate measures for carrier screening, better evaluation of diseases burden and setting up of preventive measures at the regional level.
| S-EPMC3495028 | biostudies-literature
Project description:PurposeTo analyze the epidemiological and clinical features of Acanathamoeba keratitis AK and to assess the risk factors of this corneal infection in contact lens CL wearers in a tertiary center of Tunisia, North Africa.MethodsWe carried out a retrospective study between January 2008 and December 2019 in the ophthtalmology department of a referral center, Sousse, Tunisia. A review of the chart of 248 patients using CL and diagnosed with presumed infectious keratitis was done.Socio demographic, risk behaviors and microbiological findings in case of AK were analyzed. The mean follow-up was 18 months (1 month-4 years).ResultsAK was diagnosed in 29 cases (11.7% of contact lens wearers with infectious keratitis). These 29 cases were analyzed. The mean age at the time of diagnosis was 33, 44 ± 26, 9 years. Almost of the patients (13; 44.82%) used soft monthly disposable contact lenses. Some risk behaviors related to contact lens wearing were found in our study like not washing and drying hands before CL wear, sleeping in CL, topping off, not respecting the adequate replacement frequency and showering or swimming in CL.After treatment, visual acuity improved only in 10 cases (34.48%), remained the same in 11 cases (37.93%) and worsened in 8 cases (27.58%).ConclusionClinicians must suspect AK in each CL wearer with suggestive clinical signs to allow earlier treatment and better prognosis. Public prevention messages that encourage CL wearers to respect the hygiene rules should be broadly applicable to each person using any type of CL, to minimize the risk of AK.
| S-EPMC8449026 | biostudies-literature
Project description:There is a lack of epidemiological data on fascioliasis in Egypt regarding disease characteristics and treatment outcomes across different governorates. We aimed to identify the demographic, epidemiologic, clinical, laboratory, and radiological characteristics and treatment outcomes of patients diagnosed with fascioliasis in Egypt. Data on human fascioliasis were collected retrospectively from patients' medical records in the period between January 2018 and January 2020. The study included 261 patients. More than 40% of enrolled patients were in the age group of 21-40 years old. Geographically, 247 (94.6%) were from Assiut Governorate with 69.3% were from rural areas. The most frequent symptoms were right upper quadrant pain (96.9%), and fever (80.1%). Eosinophilia was found in 250 cases (95.8%). Hepatic focal lesions were detected in 131 (50.2%); out of them 64/131 (48.9%) had a single lesion. All patients received a single dose of 10 mg/kg of triclabendazole, 79.7% responded well to a single dose, while in 20.3% a second ± a third dose of treatment was requested. After therapy, there was a reduction in leucocytes, Fasciola antibodies titer, eosinophilic count, bilirubin, and liver enzymes with an increase in hemoglobin level. According to our findings, a high index of suspicion should be raised in cases with fever, right upper abdominal pain, and peripheral eosinophilia, and further imaging workup is mandated to detect hepatic focal lesions. Prompt treatment by triclabendazole can serve as a standard-of-care regimen even for suspected cases.
| S-EPMC10533839 | biostudies-literature
Project description:Here, we determined the Toxoplasma gondii genotype in amniotic fluid, placenta, and cerebrospinal fluid samples from 14 congenital toxoplasmosis cases in Tunisia, North Africa. Direct genotypic characterization of T. gondii strains was performed by polymerase chain reaction (PCR) amplification of six genetic markers (3'SAG2, 5' SAG2, SAG3, BTUB, GRA6, and APICO) and thereafter, was analyzed by restriction fragment-length polymorphism (RFLP). Samples were sequenced to resolve strain type whenever there were unclear enzyme digestion results. Multilocus analysis revealed that only one specimen harbored the type I allele in all studied loci, whereas the 13 others gave mixed genotype results with different alleles at different markers. Seven specimens produced RFLP profile of the recombinant strains I/III, and three produced a profile of I/II recombinant strains. The last three specimens produced complex digestion patterns. In these cases, sequence analysis revealed double peaks at known polymorphic sites, indicating the presence of multiple alleles.
| S-EPMC2877409 | biostudies-literature
Project description:HCV genotype 2 (HCV-2) has a worldwide distribution with prevalence rates that vary from country to country. High genetic diversity and long-term endemicity were suggested in West African countries. A global dispersal of HCV-2 would have occurred during the 20th century, especially in European countries. In Tunisia, genotype 2 was the second prevalent genotype after genotype 1 and most isolates belong to subtypes 2c and 2k. In this study, phylogenetic analyses based on the NS5B genomic sequences of 113 Tunisian HCV isolates from subtypes 2c and 2k were carried out. A Bayesian coalescent-based framework was used to estimate the origin and the spread of these subtypes circulating in Tunisia. Phylogenetic analyses of HCV-2c sequences suggest the absence of country-specific or time-specific variants. In contrast, the phylogenetic grouping of HCV-2k sequences shows the existence of two major genetic clusters that may represent two distinct circulating variants. Coalescent analysis indicated a most recent common ancestor (tMRCA) of Tunisian HCV-2c around 1886 (1869-1902) before the introduction of HCV-2k in 1901 (1867-1931). Our findings suggest that the introduction of HCV-2c in Tunisia is possibly a result of population movements between Tunisia and European population following the French colonization.
| S-EPMC4839596 | biostudies-literature
Project description:We describe the partially preserved femur of a large-bodied theropod dinosaur from the Cenomanian "Kem Kem Compound Assemblage" (KKCA) of Morocco. The fossil is housed in the Museo Geologico e Paleontologico "Gaetano Giorgio Gemmellaro" in Palermo (Italy). The specimen is compared with the theropod fossil record from the KKCA and coeval assemblages from North Africa. The combination of a distally reclined head, a not prominent trochanteric shelf, distally placed lesser trochanter of stout, alariform shape, a stocky shaft with the fourth trochanter placed proximally, and rugose muscular insertion areas in the specimen distinguishes it from Carcharodontosaurus, Deltadromeus and Spinosaurus and supports referral to an abelisaurid. The estimated body size for the individual from which this femur was derived is comparable to Carnotaurus and Ekrixinatosaurus (up to 9 meters in length and 2 tons in body mass). This find confirms that abelisaurids had reached their largest body size in the "middle Cretaceous," and that large abelisaurids coexisted with other giant theropods in Africa. We review the taxonomic status of the theropods from the Cenomanian of North Africa, and provisionally restrict the Linnean binomina Carcharodontosaurus iguidensis and Spinosaurus aegyptiacus to the type specimens. Based on comparisons among the theropod records from the Aptian-Cenomanian of South America and Africa, a partial explanation for the so-called "Stromer's riddle" (namely, the coexistence of many large predatory dinosaurs in the "middle Cretaceous" record from North Africa) is offered in term of taphonomic artifacts among lineage records that were ecologically and environmentally non-overlapping. Although morphofunctional and stratigraphic evidence supports an ecological segregation between spinosaurids and the other lineages, the co-occurrence of abelisaurids and carcharodontosaurids, two groups showing several craniodental convergences that suggest direct resource competition, remains to be explained.
| S-EPMC4782726 | biostudies-literature
Project description:Documenting the circulation dynamics of SARS-CoV-2 variants in different regions of the world is crucial for monitoring virus transmission worldwide and contributing to global efforts towards combating the pandemic. Tunisia has experienced several waves of COVID-19 with a significant number of infections and deaths. The present study provides genetic information on the different lineages of SARS-CoV-2 that circulated in Tunisia over 17 months. Lineages were assigned for 1359 samples using whole-genome sequencing, partial S gene sequencing and variant-specific real-time RT-PCR tests. Forty-eight different lineages of SARS-CoV-2 were identified, including variants of concern (VOCs), variants of interest (VOIs) and variants under monitoring (VUMs), particularly Alpha, Beta, Delta, A.27, Zeta and Eta. The first wave, limited to imported and import-related cases, was characterized by a small number of positive samples and lineages. During the second wave, a large number of lineages were detected; the third wave was marked by the predominance of the Alpha VOC, and the fourth wave was characterized by the predominance of the Delta VOC. This study adds new genomic data to the global context of COVID-19, particularly from the North African region, and highlights the importance of the timely molecular characterization of circulating strains.
| S-EPMC8956073 | biostudies-literature
Project description:A new species of the genus Haplocookia Brölemann, 1915 is described from Cap Bon Peninsula in Tunisia (North Africa) and a historical account of the poorly understood genera Haplocookia and Heterocookia Silvestri, 1898 is provided. Comments on the taxonomy of the family Trichopolydesmidae are presented, as well as an identification key to the trichopolydesmid species hitherto known from North Africa and an updated list of the Polydesmida in the region.
| S-EPMC6170523 | biostudies-literature
Project description:Previous studies have shown that there is a geographic variation in the prevalence of stroke, with a lower prevalence of stroke in Sichuan province. And a stroke transition was found during the period of economic development as well. However, as the center of Southwest China, with a greatly developed economy, whether the geographic variation remained with lower burden of stroke in Sichuan province is unknown. Therefore, in this study, we analyzed the secular stroke status in Sichuan province to help explore the potential reasons for geographic disparity. From a cross-sectional study conducted based on eight national disease surveillance points (DSPs) in Sichuan province in 2013, the epidemiologic data of stroke were collected. Data of risk factors were obtained from a cross-sectional study based on 12 national DSPs in Sichuan province in 2013. The results showed that the age-standardized prevalence, incidence, and mortality of stroke in Sichuan province were 338.6/100,000 people [95% confidence interval (CI), 267.8-409.4], 147.1/100,000 person-years (95% CI = 100.6-193.6), and 72.4/100,000 person-years (95% CI = 40.0-104.8), respectively, which were significantly lower than those determined from the contemporary data of China in 2013. The analysis of the risk factors showed that the weights of contribution of the potential risk factors to stroke were in consistency with those published reports from other areas. In conclusion, the disparity of lower stroke burden in Sichuan than the average China remained, although with the great developments in Sichuan province over all those decades. In addition to traditional modifiable factors, we suggest that unknown or intrinsic differences such as genetic factors might play an important role in geographic disparity, which should be investigated in future studies.
| S-EPMC7481474 | biostudies-literature