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Background: Newborn screening for glucose-6-phosphate dehydrogenase deficiency (G6PDd) was implemented in Mexico beginning in 2017. In a Mexican population, genotyping analysis of G6PD as a second-tier method identified a previously unreported missense variant, p.(Ser184Cys), which we propose to call "Toluca", and the extremely rare p.(Gln195His) or "Tainan" variant, which was previously described in the Taiwanese population as a Class II allele through in silico evaluations. Here, we sought to perform in vitro biochemical characterizations of the Toluca and Tainan G6PD natural variants and describe their associated phenotypes., Methods: The "Toluca" and "Tainan" variants were identified in three unrelated G6PDd newborn males, two of whom lacked evidence of acute hemolytic anemia (AHA) or neonatal hyperbilirubinemia (NHB). We constructed wild-type (WT), Tainan, and Toluca G6PD recombinant enzymes and performed in vitro assessments., Results: Both variants had diminished G6PD expression, decreased affinities for glucose-6-phosphate and NADP + substrates, significant decreases in catalytic efficiency (∼97 % with respect to WT-G6PD), and diminished thermostabilities that were partially rescued by NADP + . In silico protein modeling predicted that the variants would have destabilizing effects on the protein tertiary structure, potentially reducing the enzyme half-lives and/or catalytic efficiencies., Conclusion: Our data suggest that G6PD "Tainan" and "Toluca" are potential Class II natural variants, which agrees with the absence of chronic nonspherocytic hemolytic anemia (CNSHA) in our patients. It remains to be determined whether these variants represent high-risk genetic factors for developing CNSHA, AHA, and/or NHB., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)

Abstract: Temperate forest dominated by Quercus L. spp. cover large parts of central Mexico and rural communities depend on these forests for wood and charcoal. The impact of charcoal production on enzymatic and metabolic profiles of soil microorganisms in the 0–15cm layer were investigated during the dry and rainy season. A KILN site, used for charcoal production, is prepared by clearing all vegetation, removing litter and soil from the surrounding area. The wood is piled up in the centre of the KILN site and covered with litter and soil. Incomplete combustion with a minimum of flame production is maintained for 12 days. The charcoal production had a negative effect on the functional diversity and enzymatic microbial activity in soil. Community level physiological profiles (CLPP) analyses showed a lower average well color development, substrate richness, and functional diversity in soil at the KILN sites compared to the undisturbed soil. Cluster analysis dendrograms and canonical discriminant analysis of CLPP indicated that substrate utilization at the KILN sites was different from undisturbed forest soil. The activity of six enzymes, i.e. CM-cellulase, β-glucosidase, N-acetyl-β-d-glucosaminidase, nitrate reductase, urease and proteinase, decreased from 44% to 90% at the KILN sites compared to the undisturbed forest soil. It was found that charcoal production at a KILN site showed lower functional diversity and enzymatic microbial activity than in the surrounding forest soil as a result of loss of litter and organic matter and changes in microclimatic conditions. [Copyright &y& Elsevier]

Introduction: Gaucher disease (GD) is a rare genetic recessive autosomical lysosomal storage disease, characterized by deficient activity of glucocerebrosidase. Treatment is available, but a lack of legislation for it in Mexico limits its use. This report describes the clinical features of a Mexican sample of affected subjects. Material and Methods: Sixty-three confirmed patients registered in the Mexican Gaucher Association from 1983-2006 were studied. Age, sex, type, mutation, manifestations, and treatment were evaluated. There were 32 males (50.7%) and 31 females (49.3%); mean age was 21.8 years. Results: Type 1 GD affected 51 (80.9%) and type 3 affected 12 (19.1%) patients. Average age at diagnosis was 12.4 years. Thirty-seven patients were N370S heterozygotes and 6 patients were N370S homozygotes. L444P was found in 14 heterozygote patients and in 6 L444P homozygotes. No L444P homozygote was reported in patients with type 1 GD, and no N370S was observed in patients with type 3 GD. Clinical manifestations were reported in the following percentages of patients: hepatomegaly, 19.04%; hepatosplenomegaly, 80.9%; hematological disorder 58.7%; bone disorder, 100%; neurological disorder, 19.04%. Only 40 (63.4) were under enzyme replacement therapy. Discussion: This is the first complete report of patients with GD in Mexico. Rare disease and orphan drug legislation is needed in Mexico. [ABSTRACT FROM AUTHOR]

The State of Hidalgo (Mexico) has a large area of forests known as the Huasteca Hidalguense, with a large variety of microorganisms inhabiting it. They represent an important resource from the ecological and technological point of view because they can be used in a broad variety of industrial processes. Due to the climatic conditions of this region, fungi inhabiting it must be thermophile or, at least, thermotolerant, as temperatures can be higher than 45°C in the summer, declining to 20°C in the winter. Use of ligninolytic fungi relies on their capacity to produce enzymes of industrial interest, a topic that has been under continuous research by academic and industrial investigators. Among the most important enzymes are proteases that are widely used due to their biotechnological applications with a high economic impact. Other enzymes, laccases, peroxidases, and lipases are of interest for the industries of the state of Hidalgo, especially in the textile industry, specifically in effluent processing. Fungi (n =156) were collected in the Huasteca Hidalguense, of which 100 were isolated in potato-dextrose-agar covered plates and maintained in tilted tubes. Afterwards, enzymatic activity (laccase, protease and lipase) was determined in the plates. The purpose was to select those fungi with the highest potential for biotechnological applications. Fungi generally grew at either 30°C or 37°C, and for some isolates enzymatic activities were detected at this higher temperature. Results are presented as the relation between enzymatic activity and growth rate: 60 fungi presented laccase activity, 49 had lipase activity, and none had protease activity. In most cases, enzymatic activity was higher than the growth rate, indicating that the isolated fungi have a great biotechnological potential. Statistical analysis revealed that isolates 31 (Trametes) and 8.1 (unidentified) have a larger potential to be studied as laccase-producing fungi. On the other hand, isolates 144.2 (Fomes), 154 (Trametes), and 147.2 (Pycnoporus) are of interest as lipase activity producers, an activity scarcely studied in this type of microorganisms. [Copyright &y& Elsevier]