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- W3215666789 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." @default.
- W3215666789 created "2021-12-06" @default.
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- W3215666789 date "2021-11-19" @default.
- W3215666789 modified "2023-09-26" @default.
- W3215666789 title "Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved" @default.
- W3215666789 cites W129622995 @default.
- W3215666789 cites W142759589 @default.
- W3215666789 cites W1629832831 @default.
- W3215666789 cites W176480448 @default.
- W3215666789 cites W1918057523 @default.
- W3215666789 cites W1926748004 @default.
- W3215666789 cites W1939114858 @default.
- W3215666789 cites W1964448372 @default.
- W3215666789 cites W1970640787 @default.
- W3215666789 cites W1975499545 @default.
- W3215666789 cites W1981480825 @default.
- W3215666789 cites W1985292442 @default.
- W3215666789 cites W1985673721 @default.
- W3215666789 cites W1986170218 @default.
- W3215666789 cites W1988266403 @default.
- W3215666789 cites W1990963748 @default.
- W3215666789 cites W1998236945 @default.
- W3215666789 cites W1998242338 @default.
- W3215666789 cites W1998329421 @default.
- W3215666789 cites W1999738265 @default.
- W3215666789 cites W1999747061 @default.
- W3215666789 cites W2000672932 @default.
- W3215666789 cites W2003727759 @default.
- W3215666789 cites W2012403354 @default.
- W3215666789 cites W2021692859 @default.
- W3215666789 cites W2036657944 @default.
- W3215666789 cites W2037124866 @default.
- W3215666789 cites W2040399450 @default.
- W3215666789 cites W2042958675 @default.
- W3215666789 cites W2043047030 @default.
- W3215666789 cites W2043674513 @default.
- W3215666789 cites W2046471364 @default.
- W3215666789 cites W2056368829 @default.
- W3215666789 cites W2057597563 @default.
- W3215666789 cites W2066619852 @default.
- W3215666789 cites W2071354686 @default.
- W3215666789 cites W2074871584 @default.
- W3215666789 cites W2077139632 @default.
- W3215666789 cites W2082315962 @default.
- W3215666789 cites W2083938061 @default.
- W3215666789 cites W2085078601 @default.
- W3215666789 cites W2088589215 @default.
- W3215666789 cites W2097706106 @default.
- W3215666789 cites W2102952598 @default.
- W3215666789 cites W2103267166 @default.
- W3215666789 cites W2111875392 @default.
- W3215666789 cites W2113068730 @default.
- W3215666789 cites W2118855079 @default.
- W3215666789 cites W2121837502 @default.
- W3215666789 cites W2134008882 @default.
- W3215666789 cites W2142655405 @default.
- W3215666789 cites W2143011068 @default.
- W3215666789 cites W2144979162 @default.
- W3215666789 cites W2145695460 @default.
- W3215666789 cites W2146986344 @default.
- W3215666789 cites W2148528534 @default.
- W3215666789 cites W2154909271 @default.
- W3215666789 cites W2164492970 @default.
- W3215666789 cites W2183326957 @default.
- W3215666789 cites W2229525964 @default.
- W3215666789 cites W2235489403 @default.
- W3215666789 cites W2285005975 @default.
- W3215666789 cites W2302325680 @default.
- W3215666789 cites W2317359858 @default.
- W3215666789 cites W2336412829 @default.
- W3215666789 cites W2340979035 @default.
- W3215666789 cites W2396257226 @default.
- W3215666789 cites W2401565194 @default.
- W3215666789 cites W2409498483 @default.
- W3215666789 cites W2413812715 @default.
- W3215666789 cites W2415493315 @default.
- W3215666789 cites W2422133157 @default.
- W3215666789 cites W2465542720 @default.
- W3215666789 cites W2465706639 @default.
- W3215666789 cites W2465751768 @default.
- W3215666789 cites W2469291221 @default.
- W3215666789 cites W2473671882 @default.
- W3215666789 cites W2508503501 @default.
- W3215666789 cites W2623887734 @default.