Outlining the Ancestry Landscape of Colombian Admixed Populations.

The ancestry of the Colombian population comprises a large number of well differentiated Native communities belonging to diverse linguistic groups. In the late fifteenth century, a process of admixture was initiated with the arrival of the Europeans, and several years later, Africans also became part of the Colombian population. Therefore, the genepool of the current Colombian population results from the admixture of Native Americans, Europeans and Africans. This admixture occurred differently in each region of the country, producing a clearly stratified population. Considering the importance of population substructure in both clinical and forensic genetics, we sought to investigate and compare patterns of genetic ancestry in Colombia by studying samples from Native and non-Native populations living in its 5 continental regions: the Andes, Caribe, Amazonia, Orinoquía, and Pacific regions. For this purpose, 46 AIM-Indels were genotyped in 761 non-related individuals from current populations. Previously published genotype data from 214 Colombian Natives from five communities were used for population comparisons. Significant differences were observed between Native and non-Native populations, among non-Native populations from different regions and among Native populations from different ethnic groups. The Pacific was the region with the highest African ancestry, Amazonia harboured the highest Native ancestry and the Andean and Orinoquían regions showed the highest proportion of European ancestry. The Andean region was further sub-divided into 6 sub-regions: North East, Central West, Central East, West, South West and South East. Among these regions, the South West region showed a significantly lower European admixture than the other regions. Hardy-Weinberg equilibrium and variance values of ancestry among individuals within populations showed a potential stratification of the Pacific population.

Admixture and genetic diversity distribution patterns of non-recombining lineages of Native American ancestry in Colombian populations.

Genetic diversity of present American populations results from very complex demographic events involving different types and degrees of admixture. Through the analysis of lineage markers such as mtDNA and Y chromosome it is possible to recover the original Native American haplotypes, which remained identical since the admixture events due to the absence of recombination. However, the decrease in the effective population sizes and the consequent genetic drift effects suffered by these populations during the European colonization resulted in the loss or under-representation of a substantial fraction of the Native American lineages. In this study, we aim to clarify how the diversity and distribution of uniparental lineages vary with the different demographic characteristics (size, degree of isolation) and the different levels of admixture of extant Native groups in Colombia. We present new data resulting from the analyses of mtDNA whole control region, Y chromosome SNP haplogroups and STR haplotypes, and autosomal ancestry informative insertion-deletion polymorphisms in Colombian individuals from different ethnic and linguistic groups. The results demonstrate that populations presenting a high proportion of non-Native American ancestry have preserved nevertheless a substantial diversity of Native American lineages, for both mtDNA and Y chromosome. We suggest that, by maintaining the effective population sizes high, admixture allowed for a decrease in the effects of genetic drift due to Native population size reduction and thus resulting in an effective preservation of the Native American non-recombining lineages.

Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations.

For the correct evaluation of the weight of genetic evidence in a forensic context, databases must reflect the structure of the population, with all possible groups being represented. Countries with a recent history of admixture between strongly differentiated populations are usually highly heterogeneous and sub-structured. Bolivia is one of these countries, with a high diversity of ethnic groups and different levels of admixture (among Native Americans, Europeans and Africans) across the territory. For a better characterization of the male lineages in Bolivia, 17 Y-STR and 42 Y-SNP loci were genotyped in samples from La Paz and Chuquisaca. Only European and Native American Y-haplogroups were detected, and no sub-Saharan African chromosomes were found. Significant differences were observed between the two samples, with a higher frequency of European lineages in Chuquisaca than in La Paz. A sample belonging to haplogroup Q1a3a1a1-M19 was detected in La Paz, in a haplotype background different from those previously found in Argentina. This result supports an old M19 North-south dispersion in South America, possibly via two routes. When comparing the ancestry of each individual assessed through his Y chromosome with the one estimated using autosomal AIMs, (a) increased European ancestry in individuals with European Y chromosomes and (b) higher Native American ancestry in the carriers of Native American Y-haplogroups were observed, revealing an association between autosomal and Y-chromosomal markers. The results of this study demonstrate that a sub-structure does exist in Bolivia at both inter- and intrapopulation levels, a fact which must be taken into account in the evaluation of forensic genetic evidence.

Characterization of the transition technique from enteral tube feeding to breastfeeding in preterm newborns.

PURPOSE: To verify the corrected gestational age when oral feeding (breast half full) and exclusive breastfeeding were initiated in preterm newborns submitted to the transition technique from enteral feeding directly to breastfeeding, and time spent (in days) under speech-language pathology intervention until discharge. METHODS: Study participants were 35 preterm infants (PTI) divided into two groups. Group 1 (G1) was composed by 22 PTI who did not present any important medical complications during hospitalization, and Group 2 (G2) comprised 13 PTI with a history of major medical complications. The following data were recorded: gestational age at birth, birth weight, weight and corrected gestational age during speech-language pathology evaluation, corrected gestational age when started oral feeding, number of days stimulated through the non-nutritive sucking (NNS) technique, corrected gestational age when oral feeding started and when they were discharged from speech-language pathology intervention, and total number of days under speech-language pathology intervention. RESULTS: No differences were found between the groups (G1 and G2) for any of the analyzed parameters. In general, oral feeding started with an average of 36 weeks corrected gestational age. Exclusive oral feeding occurred with an average of 36.6 weeks corrected gestational age. In average, speech-language pathology intervention lasted 12.3 days, and the NNS technique in "gloved finger" or "empty breast" lasted an average of 4.54 days. CONCLUSION: The technique allowed the PTI to be discharged in exclusive breastfeeding at a corrected gestational age corresponding to that of healthy term newborns.

Caracterização da técnica de transição da alimentação por sonda enteral para seio materno em recém-nascidos prematuros / Characterization of the transition technique from enteral tube feeding to breastfeeding in preterm newborns

OBJETIVO: Verificar a idade gestacional corrigida do início da dieta por via oral (mama parcialmente cheia) e da alimentação exclusiva em seio materno e o tempo dispendido (em dias) de atendimento fonoaudiológico para alta de recém-nascidos prematuros submetidos à técnica da transição da alimentação enteral direta para o seio materno. MÉTODOS: Fizeram parte do estudo 35 recém-nascidos prematuros (RNPT) divididos em dois grupos. O Grupo 1 (G1) foi composto por 22 RNPT que não apresentaram intercorrências médicas importantes durante a internação e o Grupo 2 (G2) por 13 RNPT com histórico de intercorrências médicas importantes. Foram registrados os seguintes dados: idade gestacional ao nascimento, peso ao nascimento, peso do recém-nascido e idade gestacional corrigida durante avaliação fonoaudiológica, idade gestacional corrigida no momento do início da alimentação por via oral, número de dias em que o recém-nascido realizou a técnica de sucção não nutritiva, idade gestacional corrigida no momento do início da alimentação por via oral exclusiva e da alta fonoaudiológica, e o número total de dias de atendimento fonoaudiológico. RESULTADOS: Não houve diferença entre os grupos (G1 e G2) para nenhum dos parâmetros analisados. De maneira geral, o início da oferta por via oral ocorreu com média de idade gestacional corrigida de 36 semanas. A alimentação por via oral exclusiva ocorreu com média de 36,6 semanas de idade gestacional corrigida. A média de dias de atendimento fonoaudiológico total foi de 12,3, sendo que o treino de sucção não nutritiva (SNN) em "dedo enluvado" ou "mama vazia" durou em média 4,54 dias. CONCLUSÃO: A técnica possibilitou a alta hospitalar do recém-nascido prematuro com alimentação exclusiva em seio materno em idade gestacional corrigida correspondente a do recém-nascido termo e saudável.

PURPOSE: To verify the corrected gestational age when oral feeding (breast half full) and exclusive breastfeeding were initiated in preterm newborns submitted to the transition technique from enteral feeding directly to breastfeeding, and time spent (in days) under speech-language pathology intervention until discharge. METHODS: Study participants were 35 preterm infants (PTI) divided into two groups. Group 1 (G1) was composed by 22 PTI who did not present any important medical complications during hospitalization, and Group 2 (G2) comprised 13 PTI with a history of major medical complications. The following data were recorded: gestational age at birth, birth weight, weight and corrected gestational age during speech-language pathology evaluation, corrected gestational age when started oral feeding, number of days stimulated through the non-nutritive sucking (NNS) technique, corrected gestational age when oral feeding started and when they were discharged from speech-language pathology intervention, and total number of days under speech-language pathology intervention. RESULTS: No differences were found between the groups (G1 and G2) for any of the analyzed parameters. In general, oral feeding started with an average of 36 weeks corrected gestational age. Exclusive oral feeding occurred with an average of 36.6 weeks corrected gestational age. In average, speech-language pathology intervention lasted 12.3 days, and the NNS technique in "gloved finger" or "empty breast" lasted an average of 4.54 days. CONCLUSION: The technique allowed the PTI to be discharged in exclusive breastfeeding at a corrected gestational age corresponding to that of healthy term newborns.

Paraganglioma funcionante associado à síndrome de takotsubo / Functioning paraganglioma associate with takotsubo syndrome

Relata-se o caso de uma paciente, 37 anos, que preencheu os critérios diagnósticos para cardiomiopatia induzida por estresse associada à presença de paraganglioma que desencadeava síndrome adrenérgica. O quadro clínico mimetizou o infarto agudo do miocárdio, manifestando-se com dor precordial, seguido por supra de ST em parede anterior, elevação discreta de enzimas cardíacas, cursando com disfunção sitólica apical do ventrículo esquerdo e hipercinesia das porções basais...