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We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 324 Mexicans from the state of Yucatán living in the city of Mérida (N = 192) and rural communities (N = 132), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes in the state of Yucatán include 16 Native American and one European haplotype. Admixture estimates revealed that the main genetic components in Yucatán are Native American (81.54 ± 4.99% by ML; 62.92% of Native American haplotypes) and European (11.50 ± 15.43% by ML; 23.26% of European haplotypes), and a less prominent African genetic component (6.96 ± 10.47% by ML; 5.93% of African haplotypes)., (Copyright © 2019 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) allele groups and alleles by PCR-SSP based typing in a total of 15,318 mixed ancestry Mexicans from all the states of the country divided into 78 sample sets, providing information regarding allelic and haplotypic frequencies and their linkage disequilibrium, as well as admixture estimates and genetic substructure. We identified the presence of 4268 unique HLA extended haplotypes across Mexico and find that the ten most frequent (HF > 1%) HLA haplotypes with significant linkage disequilibrium (Δ'≥0.1) in Mexico (accounting for 20% of the haplotypic diversity of the country) are of primarily Native American ancestry (A*02~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*08~DQB1*04, A*68~B*39~DRB1*04~DQB1*03:02, A*02~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*14~DQB1*03:01, A*24~B*35~DRB1*04~DQB1*03:02, A*24~B*39~DRB1*04~DQB1*03:02, A*02~B*40:02~DRB1*04~DQB1*03:02, A*68~B*35~DRB1*04~DQB1*03:02, A*02~B*15:01~DRB1*04~DQB1*03:02). Admixture estimates obtained by a maximum likelihood method using HLA-A/-B/-DRB1 as genetic estimators revealed that the main genetic components in Mexico as a whole are Native American (ranging from 37.8% in the northern part of the country to 81.5% in the southeastern region) and European (ranging from 11.5% in the southeast to 62.6% in northern Mexico). African admixture ranged from 0.0 to 12.7% not following any specific pattern. We were able to detect three major immunogenetic clusters correlating with genetic diversity and differential admixture within Mexico: North, Central and Southeast, which is in accordance with previous reports using genome-wide data. Our findings provide insights into the population immunogenetic substructure of the whole country and add to the knowledge of mixed ancestry Latin American population genetics, important for disease association studies, detection of demographic signatures on population variation and improved allocation of public health resources., 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 © 2020 The Authors. Published by Elsevier Inc. All rights reserved.)

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 81 Mexicans from the state of Campeche living in the city of Campeche (N = 34) and rural communities (N = 47), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in the state of Campeche include ten Native American, three European, one African and one Asian haplotype. Admixture estimates revealed that the main genetic components in the state of Campeche are Native American (65.56 ± 0.96% by ML; 51.24% of Native American haplotypes), European (34.44 ± 10.94% by ML; 30.25% of European haplotypes), and a virtually absent African genetic component (0.00 ± 10.31% by ML; 9.26% of African haplotypes)., (Copyright © 2019 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 98 Mexicans from the state of Quintana Roo living in the city of Cancún (N = 48) and rural communities (N = 50), to obtain information regarding allelic and haplotypic frequencies and their linkage disequilibrium. We found that the most frequent haplotypes in Quintana Roo include ten Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in Quintana Roo are Native American (80.85 ± 3.70% by ML; 60.20% of Native American haplotypes) and European (15.19 ± 14.25% by ML; 26.02% of European haplotypes), and a less prominent African genetic component (3.96 ± 10.75% by ML; 6.63% of African haplotypes)., (Copyright © 2019 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)

Biallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic deficiency leads to the accumulation of neurotoxins causing macrocephaly at birth, hypotonia and dystonia due to bilateral striatal injury, that evolves with aging, if untreated, to fixed dystonia and akinetic-rigid parkinsonism. In this article, we describe the results of molecular studies of 5 unrelated patients with GA1 in Southern Mexico. Mutational analysis identified 2 novel likely pathogenic GCDH variants (p.Leu130Pro and p.Gly391Val), 1 pathogenic variant that is predicted to cause a premature stop codon (p.Leu370*), and 2 previously reported pathogenic variants (p.Arg294Trp and p.Arg294Gln). The recurrence of the p.Leu130Pro variant (60% of mutant alleles) suggested a possible founder mutation effect. Our results expand the mutational spectrum in GA1 patients and support the importance of early diagnosis through newborn screening that promotes early nutritional treatment and prevents metabolic crisis., Take Home Message: Glutaric Aciduria type 1 has a wide mutational spectrum; the p.Leu130Pro variant may be a founder mutation in Southeast Mexico., (© 2019 The Authors.)

Background: Treating anemia of prematurity is transfused red blood cells and the use of erythropoiesis-stimulating agents. The aim of this article is to determine the correlation between the number of blood transfusions and the use of recombinant human erythropoietin in preterm infants with anemia., Methods: A correlation study was performed in 80 cases of patients with anemia treated with transfusions and erythropoietin, were randomized into two groups: one was treated with transfusions (T) and one with transfusions and erythropoietin (E). Demographic variables, hemoglobin and hematocrit at the beginning and end of treatment and number of transfusions received were measured. The correlation was obtained through Spearman Rho, considering p < 0.05 as statistically significant., Results: The total number of units transfused in each group was lower in group E, which received two units less than the T group (p < 0.05). The average CE transfused in group E was 4 ± 1.2 and 7 ± 1.2 for the group T. For the group E the correlation between gestational age and number of transfusions was moderately negative (-0348); birth weight and the number of packed red blood cells transfused were slightly negative (-0239). T group for the negative correlation between the same variables moderate slight negative (-0300) and (-0109), respectively., Conclusions: Erythropoietin reduces the number of blood transfusions in preterm infants with anemia. Its use does not preclude the transfusion, the patient remains exposed to the risk of communicable diseases in this way.

Background: Bacterial destruction caused by free radicals, which are synthesized by neutrophils in the presence of oxygen, depends on adequate tissue perfusion. Mild perioperative hypothermia causes vasoconstriction, reducing nutrient and oxygen supply to wounds and increasing frequency of surgical wound infection. However, the causal role of hypothermia in surgical wound infection is the subject of controversy. The present work proposes the hypothesis that mild perioperative hypothermia is associated with infection of the surgical wound., Methods: A prospective cohort of 290 surgical patients was studied in a second-level hospital; 261 (90%) of the patients concluded the follow-up. The relationship of hypothermia and of other confounding factors, such as diabetes mellitus, antibiotic treatment, and wound drains with infection outcome was evaluated. One physician, blinded to patient hypothermia, gathered the data. Surgical wound infection was defined as the surgeon's diagnosis with positive culture., Results: Twenty subjects (7.6%) showed infection of surgical wound; 18 (11.5%) of 156 hypothermics and two (2%) 105 normothermics (p = 0.004). Hypothermia proved to be a significant independent risk of infection with relative risk of 6.3 (p = 0.01)., Conclusions: Mild perioperative hypothermia is associated with infection of the surgical wound and its prevention is therefore justified.