Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts.

Contemporary research on the genomics of Attention Deficit Hyperactivity Disorder (ADHD) often underrepresents admixed populations of diverse genomic ancestries, such as Latin Americans. This study explores the relationship between admixture and genetic associations for ADHD in Colombian and Mexican cohorts. Some 546 participants in two groups, ADHD and Control, were genotyped with Infinium PsychArray®.

Unraveling the Genetic Threads of History: mtDNA HVS-I Analysis Reveals the Ancient Past of the Aburra Valley.

This article presents a comprehensive genetic study focused on pre-Hispanic individuals who inhabited the Aburrá Valley in Antioquia, Colombia, between the tenth and seventeenth centuries AD. Employing a genetic approach, the study analyzed maternal lineages using DNA samples obtained from skeletal remains. The results illuminate a remarkable degree of biological diversity within these populations and provide insights into their genetic connections with other ancient and indigenous groups across the American continent.

Moderating effects of impulsivity and morning cortisol on the genotype-phenotype relationship of attention deficit hyperactivity disorder in young adults.

Dysregulation of the morning cortisol response in young adults with attention deficit hyperactivity disorder (ADHD) has been shown to underlie several of the alterations present in their lives. Thus, the interaction of this mechanism with genetic and behavioural characteristics could explain a large proportion of the aetiology of ADHD in this population. For these reasons, the present study explores the associations of 30 single nucleotide polymorphisms (SNPs) previously identified as significant (after correction for multiple comparisons) in the aetiology of ADHD with an assessment of morning cortisol and impulsivity traits in a group of 120 adults aged 18-24 years.

[Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemia].

Sickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. Worldwide, various diagnostic tests have been developed that allow the appropriate approach to the affected patient.

Can presence of HLA type I and II alleles be associated with clinical spectrum of CHIKV infection?

Host immune response and virulence factors are key to disease susceptibility. However, there are no known association studies of human leukocyte antigen (HLA) class I and II alleles with chikungunya virus (CHIKV) infection in the Latin American population. Here, we aimed to identify HLA alleles present in patients with CHIKV infection versus healthy controls as well as the allelic association with the clinical spectrum of the disease.

Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation.

Objective: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features.

Design: Descriptive retrospective study.

Setting: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years.

Surgery through time. Saturn extract: an 18th century medical prescription.

Objective: To analyze a medical prescription from the 18th century in the New Kingdom of Granada, nowadays Colombia, used in the treatment of soft tissue injuries, specifically wounds and skin ulcers.

Method: A documentary search was conducted in the Cipriano Rodríguez Santamaria Historical Archive of the Octavio Arizmendi Posada Library, at Universidad de La Sabana (Chía, Colombia), and a review of the literature available in electronic databases.

Results And Conclusion: The colonial medical prescription mentions the benefits of lead acetate in poultice for inflammatory processes in general and skin alterations.

Prescription to reduce heart palpitations, a mid-18 century prescription in the New Kingdom of Granada.

The human being, throughout history, has used plants to prevent and cure diseases. It is important to know that for a long time, the mechanism through which those plants worked was unknown, making herbal medicine a purely empirical science. Medical prescriptions in the 19 century in the Kingdom of Nueva Granada were considered a significant medical advance as a result of knowledge and medical practices in the old continent.

Prescription to reduce heart palpitations, a mid-18th century prescription in the New Kingdom of Granada.

The human being, throughout history, has used plants to prevent and cure diseases. It is important to know that for a long time, the mechanism through which those plants worked was unknown, making herbal medicine a purely empirical science. Medical prescriptions in the 19th century in the Kingdom of Nueva Granada were considered a significant medical advance, as a result of knowledge and medical practices in the old continent.

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.

The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD).

Mutational spectrum in breast cancer associated and genes in Colombia.

Introduction: The risk of developing breast and ovarian cancer is higher in families that carry mutations in BRCA1 or BRCA2 genes, and timely mutation detection is critical.

Objective: To identify the presence of mutations in the Colombian population and evaluate two testing strategies.

Methods: From a total universe of 853 individual blood samples referred for BRCA1 and BRCA2 typing, 256 cases were analyzed by complete direct sequencing of both genes in Myriad Genetics, and the remaining 597 cases were studied by partial sequencing based on founder mutations in a PCR test designed by ourselves ("Profile Colombia").

Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population.

Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases.

Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined.

[Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

Background: Oxygen transport is altered in hemoglobinopathies.

Aim: To study the distribution of hemoglobinopathies in Andean subjects without African ancestry.

Material And Methods: We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies.

Using vaginal wall impedance to determine estrous cycle phase in Lewis rats.

The use of Lewis rats in embryonic tissue transplantation experiments can present a challenge because of the fertility problems associated with this strain. The authors used estrous cycle phase determination to time pairings of reproductively active females and males in order to increase the likelihood that mating would occur. During a 24-month period, female rats in a production colony were evaluated for estrous phase by microscopic evaluation of vaginal smears and by vaginal impedance readings.