64 research outputs found
Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants
No full textDetailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
No full textDelving into the nutritional and bioactive profiles of Cheka and Borde: Traditional Ethiopian fermented beverages
No full textData will be made available on request.The nutritional and bioactive profiles of Cheka and Borde, and the bioaccessibility of their components after in vitro digestion were explored. Borde contained higher levels of protein (2.8 g/100 mL), fiber (5.2 g/100 mL), riboflavin (33.6 μg/100 mL), maltose (2.6 mg/100 mL), phenolics (129.4 mg GAE/100 mL), and antioxidant activity (191-228 mg TE/100 mL), and lower levels of phytic acid (48.1 mg/100 mL) and glucose (158.3 μg/100 mL) than Cheka. Cheka showed lower protein (1.5 g/100 mL), fiber (1.9 g/100 mL), riboflavin (13.3 μg/100 mL), phenolics (35.4 mg GAE/100 mL) and antioxidant activity (79-137 mg TE/100 mL) levels and higher contents of phytic acid (72.7 g/100 mL), and glucose (498.7 μg/100 mL). Similar angiotensin I-converting enzyme inhibitory (ACEI) activity was observed in both beverages. In vitro digestion increased amino acid bioaccessibility and antioxidant activity while reducing the bioaccessibility of phenolics and ACEI activity. These findings provide new insights into the nutritional and bioactive composition of Cheka and Borde.This study was funded by CSIC (Grant COOPB22027) and MICIU/AEI/10.13039/501100011033 and FEDER, EU (Grant PID2022-138978OB-I00) MICIU/AEI/10.13039/501100011033 and FEDER, EU. The authors (Elena Peñas, Cristina Martinez-Villaluenga, and Juana Frias) are members of the INNOPROT network (Innovation in the processing of endemic plant-based proteins from Ibero-America), funded by CYTED (ref. 124RT0164)Peer reviewe
Bilateral microform cleft lip
No full textMicroform cleft lip (MCL), also called congenital healed cleft lip or cleft lip "frustré", is a rare congenital anomaly. MCL has been described as having the characteristic appearance of a typical cleft lip which has been corrected in utero. We present a girl with bilateral microform cleft lip associated with a preauricular sinus and bilateral camptodactyly.peer-reviewe
Atresia jejuno-ileal: análise de 47 casos.
No full textTrabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis, 200
Evolution of microgastropods (Ellobioidea, Carychiidae): integrating taxonomic, phylogenetic and evolutionary hypotheses
No full textBACKGROUND: Current biodiversity patterns are considered largely the result of past climatic and tectonic changes. In an integrative approach, we combine taxonomic and phylogenetic hypotheses to analyze temporal and geographic diversification of epigean (Carychium) and subterranean (Zospeum) evolutionary lineages in Carychiidae (Eupulmonata, Ellobioidea). We explicitly test three hypotheses: 1) morphospecies encompass unrecognized evolutionary lineages, 2) limited dispersal results in a close genetic relationship of geographical proximally distributed taxa and 3) major climatic and tectonic events had an impact on lineage diversification within Carychiidae.
RESULTS: Initial morphospecies assignments were investigated by different molecular delimitation approaches (threshold, ABGD, GMYC and SP). Despite a conservative delimitation strategy, carychiid morphospecies comprise a great number of unrecognized evolutionary lineages. We attribute this phenomenon to historic underestimation of morphological stasis and phenotypic variability amongst lineages. The first molecular phylogenetic hypothesis for the Carychiidae (based on COI, 16S and H3) reveals Carychium and Zospeum to be reciprocally monophyletic. Geographical proximally distributed lineages are often closely related. The temporal diversification of Carychiidae is best described by a constant rate model of diversification. The evolution of Carychiidae is characterized by relatively few (long distance) colonization events. We find support for an Asian origin of Carychium. Zospeum may have arrived in Europe before extant members of Carychium. Distantly related Carychium clades inhabit a wide spectrum of the available bioclimatic niche and demonstrate considerable niche overlap.
CONCLUSIONS: Carychiid taxonomy is in dire need of revision. An inferred wide distribution and variable phenotype suggest underestimated diversity in Zospeum. Several Carychium morphospecies are results of past taxonomic lumping. By collecting populations at their type locality, molecular investigations are able to link historic morphospecies assignments to their respective evolutionary lineage. We propose that rare founder populations initially colonized a continent or cave system. Subsequent passive dispersal into adjacent areas led to in situ pan-continental or mountain range diversifications. Major environmental changes did not influence carychiid diversification. However, certain molecular delimitation methods indicated a recent decrease in diversification rate. We attribute this decrease to protracted speciation
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.
No full textImpact of elicitation on antioxidant and potential antihypertensive properties of lentil sprouts
No full textThe aim of this study was to investigate the application of elicitors (500 μM ascorbic acid, 50 μM folic acid, 5 mM glutamic acid and 50 ppm chitosan in 5 mM glutamic acid) during lentil germination up to 8 days as a strategy to increase germination rate and to enhance the accumulation of γ-aminobutyric acid (GABA) and phenolic compounds. The effect of elicitation on the protein profile and antioxidant and angiotensin I converting enzyme (ACE) inhibitory activities of sprouted lentils was also evaluated. The application of elicitors did not negatively affect the germination yield of lentils and no significant changes on the protein pattern of lentils germinated in the presence of elicitors were observed. Chitosan/glutamic acid increased by 1.6-fold the GABA content in lentil sprouts, whilst ascorbic and folic acids as well as chitosan/glutamic acid were highly effective to enhance the total content of phenolic compounds and the antioxidant activity of sprouted lentils. All elicited lentil sprouts showed ability to inhibit ACE activity (IC50: 9.5–11.9 μg peptides/mL). Therefore, elicitation can be considered a promising approach to improve the content of compounds with antioxidant and potential antihypertensive activities in lentil sprouts.This work was cofounded by Ministerio de Economía y Competitividad (Spain) through the project AGL2010-16310 and the European Union through FEDER programme. E. Peñas in indebted to Spanish “Ramón y Cajal” Programme for financial support and R.I. Limón to CSIC and European Social Fund providing a PhD fellowship.Peer reviewe
Toward the effective surveillance of hypospadias
No full textConcern about apparent increases in the prevalence of hypospadias--a congenital male reproductive-tract abnormality--in the 1960s to 1980s and the possible connection to increasing exposures to endocrine-disrupting chemicals have underlined the importance of effective surveillance of hypospadias prevalence in the population. We report here the prevalence of hypospadias from 1980 to 1999 in 20 regions of Europe with EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers, 14 of which implemented a guideline to exclude glanular hypospadias. We also report data from the England and Wales National Congenital Anomaly System (NCAS). Our results do not suggest a continuation of rising trends of hypospadias prevalence in Europe. However, a survey of the registers and a special validation study conducted for the years 1994-1996 in nine EUROCAT registers as well as NCAS identified a clear need for a change in the guidelines for registration of hypospadias. We recommend that all hypospadias be included in surveillance, but that information from surgeons be obtained to verify location of the meatus, and whether surgery was performed, in order to interpret trends. Investing resources in repeated special surveys may be more cost-effective than continuous population surveillance. We conclude that it is doubtful whether we have had the systems in place worldwide for the effective surveillance of hypospadias in relation to exposure to potential endocrine-disrupting chemicals
Multimodal Treatment Eliminates Cancer Stem Cells and Leads to Long-Term Survival in Primary Human Pancreatic Cancer Tissue Xenografts.
No full textCopyright: 2013 Hermann et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.PURPOSE: In spite of intense research efforts, pancreatic ductal adenocarcinoma remains one of the most deadly malignancies in the world. We and others have previously identified a subpopulation of pancreatic cancer stem cells within the tumor as a critical therapeutic target and additionally shown that the tumor stroma represents not only a restrictive barrier for successful drug delivery, but also serves as a paracrine niche for cancer stem cells. Therefore, we embarked on a large-scale investigation on the effects of combining chemotherapy, hedgehog pathway inhibition, and mTOR inhibition in a preclinical mouse model of pancreatic cancer. EXPERIMENTAL DESIGN: Prospective and randomized testing in a set of almost 200 subcutaneous and orthotopic implanted whole-tissue primary human tumor xenografts. RESULTS: The combined targeting of highly chemoresistant cancer stem cells as well as their more differentiated progenies, together with abrogation of the tumor microenvironment by targeting the stroma and enhancing tissue penetration of the chemotherapeutic agent translated into significantly prolonged survival in preclinical models of human pancreatic cancer. Most pronounced therapeutic effects were observed in gemcitabine-resistant patient-derived tumors. Intriguingly, the proposed triple therapy approach could be further enhanced by using a PEGylated formulation of gemcitabine, which significantly increased its bioavailability and tissue penetration, resulting in a further improved overall outcome. CONCLUSIONS: This multimodal therapeutic strategy should be further explored in the clinical setting as its success may eventually improve the poor prognosis of patients with pancreatic ductal adenocarcinoma
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