Interplay of Socio-economic Factors, Consanguinity, Fertility, and Offspring Mortality in Monastir, Tunisia

Cilj Procijeniti međusobne utjecaje društvenoga položaja, prevalencije brakova među srodnicima i učinaka srođivanja na reprodukciju i smrtnost dojenčadi u Tunisu. Postupci Obrađeni su podatci o 1741 živorođene djece donešene između studenoga 1989. i listopada 1990. u rodilištu Sveučilišne bolnice Fattouma Bourguiba u Monastiru u Tunisu. Žene su nakon porođaja ispunile upitnik o dobi roditelja novorođenčeta u vrijeme sklapanja braka, broju trudnoća i pobačaja, broju novorođenačkih i kasnijih smrti djece i smrti djece do dobi od 5 godina. Mogla su se razaznati tri tipa braka: između prvih rođaka, između rođaka drugih stupnjeva srodnosti i nesrodni brakovi. Rezultati Brakova među srodnicima bilo je 432 (24.81%). Većina brakova među srodnicima odnosila se na prve rođake (n=303; 70.13%). Srodni su bračni parovi bili mlađi u doba sklapanja braka i imali su veći indeks fertilnosti nego li nesrodni parovi. Postotci spontanih pobačaja i mrtvorođene djece nisu bili povezani sa srodnošću roditelja. No, u brakovima između srodnika bilo je više neonatalnih i kasnijih smrti djece, kao i smrti djece do dobi od 5 godina. Zaključak Indeks fertilnosti i dojenački mortalitet, navlastito u prvoj gorini života, bili su češći u brakovima sklopljenim među srodnicima. Taj značajan društveno-ekonomski čimbenik treba imati na umu pri procjeni zdravlja populacija s društvenim i kulturalnim posebnostima.Aim To assess the association among social status, prevalence of consanguineous marriages, and the effects of consanguinity on reproductive behavior and mortality in Tunisia. Methods The study included data on a total of 1741 live-births born from November 1989 to October 1990 in the maternity ward of the University- Hospital Fattouma Bourguiba of Monastir, Tunisia. After delivery, women filled out a questionnaire on the age of the parents at marriage, the number of pregnancies and abortions, the number of neonatal and post-neonatal deaths, and deaths of children under 5 years. Three categories of marriages were distinguished as follows: marriages between first cousins, marriages between cousins of other degree, and non consanguineous marriages. Results Consanguineous marriages represented 432 (24.81%) of the unions. Most consanguineous marriages were contracted between first cousins (n = 303; 70.13%). Consanguineous couples had a lower age at marriage and a higher fertility index than non-consanguineous couples. The rates of spontaneous abortions and stillbirths were not correlated with consanguinity. However, higher rates of neonatal and post-neonatal deaths, and deaths of children younger than 5 years were observed in consanguineous couples. Conclusion Fertility index and mortality, especially in the first year of life, were significantly higher in consanguineous marriages. This important socio-economical factor needs to be considered in assessing equity on health in specific social and cultural contexts

Rate coefficients and kinetic isotope effects of the abstraction reaction of H atoms from methylsilane

International audienceThermal rate constants for chemical reactions using improved canonical variational transition state theory (ICVT) with small-curvature tunnelling (SCT) contributions in a temperature range 180-2000 K are reported. The general procedure is used with high-quality ab initio computations and semi-classical reaction probabilities along the minimum energy path (MEP). The approach is based on a vibrational adiabatic reaction path and is applied to the multiple-channel hydrogen abstraction reaction H + SiH3CH3 → products and its isotopically substituted variants. All the degrees of freedom are optimised and harmonic vibrational frequencies and zero-point energies are calculated at the MP2 level with the cc-pVTZ basis set. Single-point energies are calculated at a higher level of theory; CCSD(T)-F12a/VTZ-F12. ICVT/SCT rate constants show that the quantum tunnelling contributions at low temperatures are relatively important and the H-abstraction channel from SiH3 group of SiH3CH3 is the major pathway. The total rate constants are given by the following expression: ktot(ICVT/SCT) = 2.29 10-18 T2.42 exp(-350.9/T) cm3 molec-1 s-1. These calculated rates are in agreement with the available experiments. The ICVT/SCT method is further exploited to predict primary and secondary kinetic isotope effects, respectively)

Interplay of Socio-economic Factors, Consanguinity, Fertility, and Offspring Mortality in Monastir, Tunisia

Cilj Procijeniti međusobne utjecaje društvenoga položaja, prevalencije brakova među srodnicima i učinaka srođivanja na reprodukciju i smrtnost dojenčadi u Tunisu. Postupci Obrađeni su podatci o 1741 živorođene djece donešene između studenoga 1989. i listopada 1990. u rodilištu Sveučilišne bolnice Fattouma Bourguiba u Monastiru u Tunisu. Žene su nakon porođaja ispunile upitnik o dobi roditelja novorođenčeta u vrijeme sklapanja braka, broju trudnoća i pobačaja, broju novorođenačkih i kasnijih smrti djece i smrti djece do dobi od 5 godina. Mogla su se razaznati tri tipa braka: između prvih rođaka, između rođaka drugih stupnjeva srodnosti i nesrodni brakovi. Rezultati Brakova među srodnicima bilo je 432 (24.81%). Većina brakova među srodnicima odnosila se na prve rođake (n=303; 70.13%). Srodni su bračni parovi bili mlađi u doba sklapanja braka i imali su veći indeks fertilnosti nego li nesrodni parovi. Postotci spontanih pobačaja i mrtvorođene djece nisu bili povezani sa srodnošću roditelja. No, u brakovima između srodnika bilo je više neonatalnih i kasnijih smrti djece, kao i smrti djece do dobi od 5 godina. Zaključak Indeks fertilnosti i dojenački mortalitet, navlastito u prvoj gorini života, bili su češći u brakovima sklopljenim među srodnicima. Taj značajan društveno-ekonomski čimbenik treba imati na umu pri procjeni zdravlja populacija s društvenim i kulturalnim posebnostima.Aim To assess the association among social status, prevalence of consanguineous marriages, and the effects of consanguinity on reproductive behavior and mortality in Tunisia. Methods The study included data on a total of 1741 live-births born from November 1989 to October 1990 in the maternity ward of the University- Hospital Fattouma Bourguiba of Monastir, Tunisia. After delivery, women filled out a questionnaire on the age of the parents at marriage, the number of pregnancies and abortions, the number of neonatal and post-neonatal deaths, and deaths of children under 5 years. Three categories of marriages were distinguished as follows: marriages between first cousins, marriages between cousins of other degree, and non consanguineous marriages. Results Consanguineous marriages represented 432 (24.81%) of the unions. Most consanguineous marriages were contracted between first cousins (n = 303; 70.13%). Consanguineous couples had a lower age at marriage and a higher fertility index than non-consanguineous couples. The rates of spontaneous abortions and stillbirths were not correlated with consanguinity. However, higher rates of neonatal and post-neonatal deaths, and deaths of children younger than 5 years were observed in consanguineous couples. Conclusion Fertility index and mortality, especially in the first year of life, were significantly higher in consanguineous marriages. This important socio-economical factor needs to be considered in assessing equity on health in specific social and cultural contexts

Association among Education Level, Occupation Status, and Consanguinity in Tunisia and Croatia Brief Report Brief Report 656

Aim To investigate the association between education level, occupation status (a proxy for socio-economic status), and consanguinity in 2 large data sets from Tunisia and Croatia countries with different attitudes toward consanguinity. Methods The sample of 1016 students, attending 5 university institutions in Monastir, Tunisia, were interviewed about the educational level and occupation status of their parents and the degree of parental relatedness. In Croatia, a sample of 1001 examinees from 9 isolated island populations was interviewed about their own educational level, occupation status, and consanguinity. Results Prevalence of consanguinity (offspring of second cousins or closer) among 1016 Tunisian students was 20.1%, and 9.3% among 1001 Croatian isolates. In Tunisia, the association between consanguinity and both parental degree of education and parental occupation status was highly significant in women (P<0.001), but not significant in men. In Croatia, no statistically significant associations were noted, although there was a consistent trend of increased prevalence of consanguinity with lower education level or occupation status in both genders, but more pronounced in women. Conclusion Association between education level, socio-economic status, and consanguinity needs to be taken into account in inbreeding studies in human populations. The relationship may be specific for each studied population and highly dependent on the cultural context. It is generally more pronounced among women in most settings

Association among Education Level, Occupation Status, and Consanguinity in Tunisia and Croatia

Aim: To investigate the association between education level, occupation status (a proxy for socio-economic status), and consanguinity in 2 large data sets from Tunisia and Croatia countries with different attitudes toward consanguinity. Methods: The sample of 1016 students, attending 5 university institutions in Monastir, Tunisia, were interviewed about the educational level and occupation status of their parents and the degree of parental relatedness. In Croatia, a sample of 1001 examinees from 9 isolated island populations was interviewed about their own educational level, occupation status, and consanguinity. Results: Prevalence of consanguinity (offspring of second cousins or closer) among 1016 Tunisian students was 20.1%, and 9.3% among 1001 Croatian isolates. In Tunisia, the association between consanguinity and both parental degree of education and parental occupation status was highly significant in women (P<0.001), but not significant in men. In Croatia, no statistically significant associations were noted, although there was a consistent trend of increased prevalence of consanguinity with lower education level or occupation status in both genders, but more pronounced in women. Conclusion: Association between education level, socio-economic status, and consanguinity needs to be taken into account in inbreeding studies in human populations. The relationship may be specific for each studied population and highly dependent on the cultural context. It is generally more pronounced among women in most settings

Rate coefficients and kinetic isotope effects of the abstraction reaction of H atoms from methylsilane

International audienceThermal rate constants for chemical reactions using improved canonical variational transition state theory (ICVT) with small-curvature tunnelling (SCT) contributions in a temperature range 180-2000 K are reported. The general procedure is used with high-quality ab initio computations and semi-classical reaction probabilities along the minimum energy path (MEP). The approach is based on a vibrational adiabatic reaction path and is applied to the multiple-channel hydrogen abstraction reaction H + SiH3CH3 → products and its isotopically substituted variants. All the degrees of freedom are optimised and harmonic vibrational frequencies and zero-point energies are calculated at the MP2 level with the cc-pVTZ basis set. Single-point energies are calculated at a higher level of theory; CCSD(T)-F12a/VTZ-F12. ICVT/SCT rate constants show that the quantum tunnelling contributions at low temperatures are relatively important and the H-abstraction channel from SiH3 group of SiH3CH3 is the major pathway. The total rate constants are given by the following expression: ktot(ICVT/SCT) = 2.29 10-18 T2.42 exp(-350.9/T) cm3 molec-1 s-1. These calculated rates are in agreement with the available experiments. The ICVT/SCT method is further exploited to predict primary and secondary kinetic isotope effects, respectively)

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Abstract Background Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder. Case presentation This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes in the same patient. We report on the clinical phenotype and molecular characterization of this patient. The patient was examined by a pluridisciplinary staff of clinicians and geneticist. The clinical diagnosis of NS and IP was confirmed by molecular investigations. The newborn girl came to our clinics due to flagrant dysmorphia and dermatological manifestations. The clinical observations led to characterize the Incontinentia Pigmenti traits and a suspicion of a Noonan syndrome association. Molecular diagnosis was performed by Haloplex resequencing of 29 genes associated with RASopathies and confirmed the NS diagnosis. The common recurrent intragenic deletion mutation in IKBKG gene causing the IP was detected with an improved PCR protocol. Conclusion This is the first report in the literature of comorbidity of NS and IP, two rare multisystem syndromes