The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria. When daily injections ...of 1 mg OH-B12 were discontinued for 3 weeks, there was no significant change in total plasma homocysteine or methionine levels and only a modest increase in methylmalonate. Orally administered OH-B12 1 mg/d in one patient was associated with an increase in plasma homocystine and a decrease in methionine within 1 month. Withdrawal of betaine 250 mg/kg/d was also associated with a rise in plasma homocystine and a fall in methionine levels. Carnitine 100 mg/kg/d lead to an increase in urinary excretion of propionylcarnitine, but did not affect plasma methylmalonate levels. No beneficial biochemical effect of folinic acid could be documented at a dose of 25 mg/d. Our results suggest that daily injections of OH-B12 are not necessary to maintain metabolic control and that orally administered OH-B12 is unlikely to be effective. Betaine appears to act synergistically with OH-B12 and should be part of the treatment regimen. Although there are theoretical reasons for using L-carnitine and folinic acid, we could not document their effectiveness in these two patients.
Con base en el Censo de Población 2010, en este artículo se analizan las relaciones entre la migración reciente de niños de Estados Unidos a México con la inasistencia escolar y el rezago en grados ...en el nivel básico de educación. Además, se examinan las diferencias en estas relaciones según el contexto rural-urbano de residencia y el país de nacimiento. Los resultados muestran, después de tomar en cuenta el capital cultural, social y económico de sus hogares, que estos niños inmigrantes tienen riesgos más altos de inasistencia y rezago en grados escolares, especialmente si viven en áreas muy urbanas o nacieron en México.
Based on the 2010 population census, this article analyzes the relationship between recent migration of children from the United States to Mexico and school absenteeism and age-grade gaps in primary school. It also examines the differentials in these correlations by rural/urban residence and country of birth. After controlling for their households’ cultural, social, and economic capital, the results show that these migrant children run a higher risk for absenteeism and being held back, especially if they live in highly urban areas or were born in Mexico.
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GEOZS, IJS, IMTLJ, IZUM, KILJ, KISLJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Este artículo analiza las asociaciones del abuso de alcohol con la afiliación religiosa, la asistencia a la iglesia y el valor por la religión entre los adolescentes mexicanos, y examina las ...interacciones entre estas variables independientes, siendo esta su principal contribución. A partir de la Encuesta Nacional de la Juventud 2010, se emplearon estadísticas descriptivas y modelos multivariados de regresión logística. Los evangélicos exhibieron momios más bajos de abusar del alcohol que los católicos, así como aquellos con un mayor valor por la iglesia y que asistían a esta, acompañados de padres o amigos. Entre los católicos, sólo asistir a la iglesia con los padres se asoció a menores momios de abuso del alcohol, respecto a no ir a la iglesia, lo mismo que los evangélicos, para quienes también asistir con otras personas redujo estos momios. No obstante, asistir a la iglesia con los padres sin tener valor por la religión no protegió a los adolescentes del abuso del alcohol. Tampoco asistir a la iglesia solo (sin compañía) se asoció a esta protección, aun cuando los adolescentes tuvieran un valor alto por la religión. Se concluye que ambos, tanto ser parte de una red social que asiste a la iglesia, como tener valor por esta, condicionan la asociación del abuso del alcohol con la afiliación religiosa y son factores protectores fundamentales contra el abuso del alcohol entre los adolescentes mexicanos.
The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous diseases lethal in early infancy. Although the clinical features of PBD patients may vary, cells from all PBD ...patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins. This cellular phenotype is shared by yeast pex mutants, and human orthologues of yeast PEX genes have been shown to be defective in some groups of PBD patients. We identified a putative human orthologue of ScPEX12 by screening the database of expressed sequence tags for cDNAs capable of encoding a protein similar to yeast Pex12p. Although its sequence similarity to yeast Pex12 proteins was limited, PEX12 shared the same subcellular distribution as yeast Pex12p and localized to the peroxisome membrane. PEX12 expression restored peroxisomal protein import in fibroblasts from PBD patients of complement group 3 (CG3) and frameshift mutations in PEX12 were detected in two unrelated CG3 patients. These data demonstrate that mutations in PEX12 are responsible for CG3 of the PBD and that PEX12 plays an essential role in peroxisomal matrix protein import.
The aim of the present study was to assess the effect of photosynthetically active radiation (PAR, 400 to 700 nm) on the utilization of dissolved dimethylsulfoniopropionate (DMSPd) by microbial ...communities in the oligotrophic North Pacific Subtropical Gyre, using super(35)S-labeled substrate. Rates of DMSPd-sulfur (DMSPd-S) assimilation into macromolecules of microorganisms in surface mixed layer seawater were 39 to 78% higher in samples that were incubated in the light than in dark controls. There was no photoinhibition in the light range tested (up to 1200 mu mol photons m super(-2) s super(-1)). Leucine assimilation, an index of bacterial protein production, was also photostimulated and was significantly correlated (r = 0.93) to DMSPd-S assimilation, suggesting that cells can respond to an increase in S requirements for protein synthesis by assimilating DMSPd-S. Light-driven changes in DMSPd-S assimilation were inversely and significantly correlated (r = -0.57) to changes in the corresponding dimethylsulfide (DMS) yield (i.e. DMS produced per DMSP consumed), in support of the hypothesis that DMS is produced only after cellular sulfur requirements are met. While light-driven changes in DMSPd-S assimilation appear to affect DMS yield, more than half of the DMSPd product pool remained unidentified; thus, in addition to assimilation, there may be other metabolic processes or products that can regulate DMS production.
Issue Title: Proline Metabolism in Health and Disease Mammalian Δ^sup 1^-pyrroline-5-carboxylate synthase (P5CS) is a bifunctional ATP- and NAD(P)H-dependent mitochondrial enzyme that catalyzes the ...coupled phosphorylation and reduction-conversion of l-glutamate to P5C, a pivotal step in the biosynthesis of l-proline, l-ornithine and l-arginine. Previously, we reported cloning and characterization of two P5CS transcript variants generated by exon sliding that encode two protein isoforms differing only by a two amino acid-insert at the N-terminus of the γ-glutamyl kinase active site. The short form (P5CS.short) is highly expressed in the gut and is inhibited by ornithine. In contrast, the long form (P5CS.long) is expressed ubiquitously and is insensitive to ornithine. Interestingly, we found that all the established human cell lines we have studied expressed P5CS.long but not P5CS.short. In addition, expression of P5CS.long can be modulated by hormones: downregulation by hydrocortisone and dexamethasone and upregulation by estradiol, for example. Using a quantitative proteomic approach, we showed that P5CS.long is upregulated by p53 in p53-induced apoptosis in DLD-1 colorectal cancer cells. Functional genomic analysis confirmed that there are two p53-binding consensus sequences in the promoter region and in the intron 1 of the human P5CS gene. Interestingly, overexpression of P5CS by adenoviruses harboring P5CS.long or P5CS.short in various cell types has no effect on cell growth or survival. It would be of importance to further investigate the role of P5CS as a p53 downstream effector and how P5CS.short expression is regulated by hormones and factors of alternative splicing in cells isolated from model animals.PUBLICATION ABSTRACT
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EMUNI, FZAB, GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UL, UM, UPUK, VKSCE, ZAGLJ
RESUMO Introdução: O envelhecimento do terço inferior da face promove o apagamento da definição da borda mandibular e do ângulo cervicofacial, além do surgimento das bandas platismais na região ...anterior do pescoço. Os pacientes têm grande expectativa de que o facelift resolva de maneira significativa tais efeitos. Para alcançar estes resultados, desenvolvemos uma abordagem cuja finalidade é a definição marcante do que chamamos de cintura cervicofacial. Métodos: O autor propõe uma nova abordagem cirúrgica de facelift já realizada em 444 pacientes consecutivos, desde 2015, que envolve uma plicatura agressiva do SMAS-platisma somada a uma tração lateral, também por plicatura, das bandas mediais do platisma. Resultados: Apesar da dificuldade em comparar resultados com diferentes técnicas, percebemos claramente uma melhora significativa nos nossos resultados com a nova técnica cirúrgica, sem aumento dos índices de complicações. Discussão: Buscamos novas técnicas pelo fato de que os tratamentos clássicos da região cervical nos parecem falhos e baseados em conceitos mal fundamentados. Estes envolvem a plicatura medial das bandas platismais por abordagem submentoniana, aproximando-as e prejudicando a elevação cranial do SMAS-platisma. Assim, passamos a realizar plicaturas laterais diretamente sobre as bandas através do acesso lateral do descolamento da face, com confecção de uma cintura cervicofacial. Conclusão: A soma dos efeitos da plicatura do SMAS com a plicatura lateral da banda medial do platisma torna a definição cervicofacial mais nítida com otimização importante dos efeitos estéticos desejados.
The eyes of a 22-month-old girl with the cobalamin C complementation type of combined methylmalonic aciduria and homocystinuria were studied with light and electron microscopy. We observed ...vacuolization of the iris pigment epithelium, loss of photoreceptors in the central 3.3 mm of the macula, partial loss of the nerve fiber and ganglion cell layers between the fovea and optic disk, and partial optic atrophy. The sclera in the posterior pole was thickened with deposition of mucopolysaccharide. Electron microscopy showed inclusions containing fine granular material in conjunctival fibrocytes; corneal epithelium, keratocytes, and endothelial cells; iris pigment epithelium; ganglion cells; retinal pigment epithelium; and choroid and scleral fibrocytes. Enlarged mitochondria and clear vacuoles distended the corneal endothelial cells. We found evidence of possible lysosomal dysfunction and mucopolysaccharide storage, as well as a clinicopathologic correlation of the macular degeneration in this disease.
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