Searching chromosome mosaicisms in 45, X Turner syndrome: how relevant is it?

ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.

Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?

OBJECTIVE: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). METHODS: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. RESULTS: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. CONCLUSION: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.

Chemical composition and hypocholesterolemic effect of milk kefir and water kefir in Wistar rats / Composição química e efeito hipocolesterolêmico do kefir de leite e do kefir de água em ratos Wistar

ABSTRACT Objective To compare the effects of fermented kefir on the nutritional, physiological, and biochemical parameters of rats. Methods Grains of milk kefir (whole and skimmed) and water kefir (brown sugar) were used. The chemical composition analysis was performed on substrates and fermented beverages. The rats were evaluated for weight gain, body mass index, as well as their food, water, kefir, and calorie intake. We also evaluated their energy efficiency coefficient, weight of organs, in addition to their serum, and hepatic biochemistry. Results Fermentation increased the acid content index owing to degradation of lactose and brown sugar. The animals consumed more kefir, reducing the intake of chow and water. Kefir did not alter body and organ weight, while improving the lipid profile. Conclusion Water kefir with brown sugar was more effective in improving the lipid profile.

RESUMO Objetivo Este estudo tem como objetivo comparar os efeitos dos fermentados de kefir sobre parâmetros nutricionais, fisiológicos e bioquímicos de ratos. Métodos Foram utilizados grãos de kefir de leite (integral e desnatado) e de água (açúcar mascavo). A composição química foi realizada nos substratos e fermentados. Foram avaliados nos ratos: ganho de peso; índice de massa corporal; ingestão de ração, água, kefir e calorias; coeficiente de eficiência energética; peso dos órgãos; e bioquímica sérica e hepática. Resultados A fermentação elevou o índice de compostos ácidos a partir da degradação da lactose e do açúcar mascavo. Os animais consumiram mais kefir, diminuindo a ingestão de ração e água. O kefir não alterou o peso corporal e dos órgãos, melhorando ainda o perfil lipídico. Conclusão O kefir de água com açúcar mascavo foi mais eficaz na melhora do perfil lipídico.