Colomb Medica
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Fat Mass and Obesity-related (FTO) has been one of the genes consistently related to common obesity. Single nucleotide polymorphisms (SNPs) in FTO have been linked with the IRX3 gene. ⋯ FTO was related to waist circumference, and IRX3 was associated with BWE in Latin American adults. This relation remained statistically significant after an adjustment for sex, age, and genetic ancestry was performed. Despite that these genes were not in LD, findings of a haplotype involving FTO-IRX3 suggest a gene-gene interaction associated with an increased risk of BWE.
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To identify pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma. ⋯ It was possible to identify four non-synonymous single nucleotide variants that predict significant damage to the structure and function of genes associated with glaucoma pathology in an Afro-Colombian.
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Case Reports
Microsurgical technique for reconstruction of Hemi-uterus with non-communicating rudimentary uterine horns.
Three cases of patients diagnosed with Hemi-uterus with non-communicating functional rudimentary cavity are reported. ⋯ Description of a novel microsurgical technique for the management of the hemi-uterus with a non-communicating functional rudimentary cavity, which could benefit not only the reduction of associated symptoms but could also become an alternative to improve fertility in these patients.
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Inborn errors of immunity, mainly Predominantly Antibody deficiencies with normal IgG levels are unrecognized in adults with lung diseases such as bronchiectasis or recurrent pneumonia. ⋯ Predominantly antibody deficiencies with normal IgG levels are an important etiology of non-cystic fibrosis bronchiectasis and recurrent pneumonia in adults.