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Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.

ABSTRACT: Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

SUBMITTER: Mezzi N

PROVIDER: S-EPMC8617973 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundGynecological diseases have been taken attention and studied worldwide. Although, no recent studies have delineated the magnitude of gynecological diseases among Chinese women. This study aims to evaluate the current situation of menstruation and gynecological diseases prevalence among Chinese women.MethodsA cross-sectional study was conducted at a hospital affiliated with Nanjing medical university in Nanjing, China between September 2021 and February 2022. A sample size of 977 women aged 18-52 years participated in a face-to-face interview questionnaire. Logistic regression was performed to determine whether pubertal timing and menstrual characteristics were associated with gynecological diseases.ResultsThe most prevalent gynecological disease was dysmenorrhea (45.96%), followed by polycystic ovary syndrome, PCOS (19.04%), uterine fibroids (14.23%), spontaneous abortion (13.20%), trouble conceiving (12.59%), ovarian dysfunction (11.16%) and endometriosis (4.09%). In the adjusted model, heavy bleeding with large clots was associated with an increased risk of dysmenorrhea (odds ratio, OR = 5.01, 95% Confidence interval, CI 2.26, 11.10; p = 0.000), while history of precocious puberty diagnosis was associated with a reduced risk of dysmenorrhea (OR = 0.50, 95%CI: 0.26, 0.94; p = 0.031). Regular menstrual cycle in the past 12 months and regular menstrual periods were associated with decreased risk of PCOS (OR = 0.44, 95%CI 0.30, 0.65; p = 0.000) and (OR = 0.52, 95%CI 0.36, 0.74; p = 0.000), respectively. Histories of early thelarche, early menarche, and precocious puberty diagnosis were associated with increased risk of ovarian dysfunction (OR = 1.96, 95%CI 1.25, 3.08, p = 0.004), (OR = 2.26, 95%CI 1.24, 4.13; p = 0.008) and (OR = 2.79, 95%CI 1.36, 5.74; p = 0.005), respectively. Heavy bleeding and heavy bleeding with large clots were associated with endometriosis (OR = 4.92, 95%CI 1.50, 16.15, p = 0.009) and (OR = 5.67, 95%CI 1.42, 22.56; p = 0.014), respectively.ConclusionsThe prevalence of gynecological diseases is increasing among Chinese women and pubertal timing and menstrual characteristics may be associated with some gynecological diseases, specifically dysmenorrhea, PCOS, ovarian dysfunction, and endometriosis.

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Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.

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