Microsatellites' mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study.

The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.

Precisión diagnóstica de la circunferencia de cuello para la predicción de sobrepeso y obesidad en estudiantes universitarios mexicanos / Diagnostic accuracy of neck circumference for the prediction of overweight and obesity in Mexican university students

Introducción. La circunferencia de cuello es una medida de fácil acceso y bajo costo, que podría ayudar a la identificación del sobrepeso u obesidad. Objetivo. Determinar la precisión diagnóstica de la circunferencia de cuello para la predicción de sobrepeso y obesidad en estudiantes universitarios mexicanos y analizar la correlación entre la circunferencia de cuello con otros indicadores antropométricos y la presión arterial como factor de riesgo cardiovascular. Materiales y métodos. Estudio transversal, analítico en 236 universitarios. Se realizaron mediciones antropométricas y presión arterial. Se realizaron análisis de las curvas ROC para obtener la sensibilidad y especificidad de los puntos de corte para la predicción de sobrepeso u obesidad y correlaciones de Pearson de circunferencia de cuello vs variables antropométricas. Resultados. Se observó, en hombres y mujeres, una correlación fuerte entre circunferencia de cuello y peso [r= 0,74 y r= 0,82 (p<0,01), respectivamente], seguida por IMC [r= 0,77 y r= 0,75 (p<0,01), respectivamente], circunferencia de cintura [r= 0,73 y r= 0,77 (p<0,01), respectivamente] e ICT [r= 0,71 y r= 0,73 (p<0,01), respectivamente]; se encontraron correlaciones moderadas para porcentaje de masa grasa y tensión arterial. La circunferencia de cuello vs circunferencia de cintura fue la mejor prueba de predicción para asociar el sobrepeso u obesidad tanto en hombres (AUC= 0,93; 89,3% sensibilidad y 82,3% especificidad) como mujeres (AUC= 0,95: 94,3% sensibilidad y 82,3% especificidad). Conclusiones. Los puntos de corte de la circunferencia de cuello presentan una adecuada capacidad para predecir el sobrepeso y obesidad en jóvenes adultos mexicanos(AU)

Introduction. Neck circumference is an easily accessible and low-cost measure, which could help in the identification of overweight or obesity. Objective. To determine the diagnostic accuracy of neck circumference for the prediction of overweight and obesity in Mexican university students and to analyze the correlation between neck circumference and other anthropometric indicators and blood pressure as a cardiovascular risk factor. Materials and methods. Cross-sectional, analytical study in 236 university students. Anthropometric and blood pressure measurements were taken. ROC curve analysis was performed to obtain the sensitivity and specificity of the cut-off points for the prediction of overweight or obesity and Pearson correlations of neck circumference vs anthropometric variables. Results. A strong correlation was observed, in men and women, between neck circumference and weight [r= 0.74 and r= 0.82 (p<0.01), respectively], followed by BMI [r= 0.77 and r= 0.75 (p<0.01), respectively], waist circumference [r= 0.73 and r= 0.77 (p<0.01), respectively] and ICT [r= 0.71 and r= 0.73 (p<0.01), respectively]; moderate correlations were found for percent fat mass and blood pressure. Neck circumference vs waist circumference was the best predictive test for associating overweight or obesity in both men (AUC= 0.93; 89.3% sensitivity and 82.3% specificity) and women (AUC= 0.95: 94.3% sensitivity and 82.3% specificity). Conclusions. Neck circumference cut-off points present adequate ability to predict overweight and obesity in Mexican young adults(AU)

Cambios en la microbiota durante el embarazo: revisión narrativa / Changes in the microbiota during pregnancy: a narrative review

OBJETIVO: Evaluar la evidencia científica de los cambios en la microbiota durante el embarazo. METODOLOGÍA: Revisión de la bibliografía publicada entre el 2013 y el 2022 efectuada mediante la búsqueda de artículos científicos escritos en español e inglés resguardados en las bases de datos bibliográficas NICE, CENETEC-SALUD, BIREME y Portal OMS, OPS, Portal de Evidencias de la Biblioteca Virtual de Salud - BVS, LILACS, BIREME, EVIPNET, PubMed y Cochrane. La selección de artículos se basó en los descriptores: microbiota; embarazo-pregnancy; microbiota, gut microbiome, fetus-feto; microbiota, placenta; microbiota, combinadas entre sí con el operador boleano "and". RESULTADOS: Se identificaron 3038 posibles artículos y 137 se encontraron adecuados para el objetivo de la revisión en virtud de estar relacionados directamente con el embarazo y la microbiota. Se revisaron estudios transversales, ensayos, revisiones, cohortes, casos y controles, revisiones sistemáticas o matanálisis. CONCLUSIONES: La microbiota se encuentra en diversos tejidos u órganos que anteriormente se creían estériles durante el embarazo. Se sugiere que todos los cambios que implica esta etapa pueden influir en la microbiota de la madre y el feto. A pesar de las crecientes investigaciones en el área aún quedan preguntas por contestar para ayudar a solucionar el enigma de los cambios en la diversidad en las diferentes complicaciones del embarazo y saber si los probióticos tendrían efecto o no en la disminución del riesgo a padecerlas.

Abstract OBJECTIVE: to evaluate the scientific evidence on changes in the microbiota during pregnancy. METHODOLOGY: A review of the literature published between 2013 and 2022 was carried out through the search of scientific articles in Spanish and English in the bibliographic databases NICE, CENETEC-SALUD, BIREME AND PORTAL WHO, PAHO, Portal of Evidence of the Virtual Health Library - BVS, LILACS, BIREME, EVIPNET, PUBMED and COCHRANE. The selection of articles was based on the descriptors: Microbiota, pregnancy, Gut microbiome, Fetus-Microbiota, Placenta - Microbiota, combined with each other with the Boolean "and". RESULTS: A total of 3,038 possible articles were identified and 137 were found suitable for the objective of the review because they were directly related to pregnancy and microbiota. Cross-sectional studies, trials, reviews, cohorts, case-controls, systematic review, or meta-analysis were reviewed. CONCLUSIONS: Microbiota has been found in various tissues or organs that were previously believed to be sterile during pregnancy, and with this, it is suggested that all the changes that this stage entails can influence the maternal and fetal microbiota. However, despite the growing research in the area, there are still questions to be resolved to help solve the enigma of the changes in diversity in the different complications of pregnancy and whether the use of probiotics would influence reducing the risk to present them.

Post COVID-19 pneumo-hematocele: clinical presentation and treatment pathway.

OBJECTIVES: The appearance of characteristic pulmonary lesions has been noted after COVID-19, being described as post-COVID-19 pneumo-hematocele. The aim of this study is to describe the clinical, histopathologic, and imaging features of pneumo-hematocele and to suggest a treatment algorithm for these patients. METHODS: A retrospective study was performed in patients admitted with a diagnosis of SARS-CoV2 infection from March 2020 to September 2021 who presented a pneumo-hematocele on imaging studies. Clinical and demographic variables were recorded, and CT scans were analyzed. A secondary analysis was performed to estimate the risk provided by the pneumo-hematocele diameter of developing pneumothorax. RESULTS: 37 patients were diagnosed with pneumo-hematoceles, 97.3% were males with a median age of 41 ± 13 years and 51% were smokers. The mean diameter of the pneumatocele was 6.3 ± 2.8 cm; they were more common on the subpleural surface and in the inferior lobe. Thirty patients had ruptured pneumo-hematoceles and developed pneumothorax (81.1%); a total of 26 patients required surgery (70.3%). Lesions measuring 5 cm had a high risk of rupture (OR 6.8, CI 95% 1.1-42); those measuring 3 cm were prone to this complication. For each centimeter that the pneumo-hematocele diameter increases, the OR for rupture increases 1.5. CONCLUSIONS: It appears that post-COVID-19 pneumo-hematocele occurs secondary to encapsulation of blood accumulation inside the lung, as a result of micro-capillary bleeding, with partial reabsorption of blood and subsequent air filling. We recommend surgery for patients with pneumo-hematoceles of 5 cm and those with persistent lesions of 3 cm. TRIAL REGISTRATION: Clinical Trial Registration: NCT05067881.

Relación entre hierro y diabetes mellitus gestacional: una revisión narrativa / Relationship between iron and gestational diabetes mellitus: a narrative review

Resumen OBJETIVO: Evaluar la evidencia científica acerca de la relación entre el hierro y la diabetes mellitus gestacional. METODOLOGÍA: Revisión narrativa, fundamentada en la búsqueda de artículos publicados de 2000 a 2021 en las bases de datos de PubMed, LILACS, BIREME, NICE, SIGN y CENETEC con los MeSH: Iron, iron and diabetes, Iron overland, Gestational Diabetes y Iron overland and Gestational Diabetes. Se seleccionaron los relacionados con el tema de interés. RESULTADOS: Se encontraron 119 artículos y solo 34 se consideraron adecuados para el objetivo de la revisión porque estaban directamente relacionados con el metabolismo del hierro, diabetes gestacional y el hierro como causa de diabetes gestacional. Se obtuvieron estudios transversales, casos y controles, cohortes, ensayos, revisiones y metanálisis. CONCLUSIONES: La relación entre hierro y diabetes mellitus gestacional no está debidamente establecida; sin embargo, se ha relacionado con la capacidad oxidativa del hierro por diferentes mecanismos que acentúan la resistencia a la insulina. Se sugiere que las concentraciones elevadas de hierro podrían ser un factor de riesgo de diabetes mellitus gestacional.

Abstract OBJECTIVE: To evaluate the scientific evidence about the relationship between iron and gestational diabetes mellitus. METHODOLOGY: Narrative review, based on the search for articles published from 2000 to 2021 in the PubMed, LILACS, BIREME, NICE, SIGN and CENETEC databases with the MeSH: Iron, iron and diabetes, Iron overland, Gestational Diabetes and Iron Overland and Gestational Diabetes. Those related to the topic of interest were selected. RESULTS: 119 articles were found and only 34 were considered adequate for the purpose of the review because they were directly related to iron metabolism, gestational diabetes and iron as a cause of gestational diabetes. Cross-sectional studies, cases and controls, cohorts, trials, reviews and meta-analyses were obtained. CONCLUSIONS: The relationship between iron and gestational diabetes mellitus is not properly established; however, it has been related to the oxidative capacity of iron through different mechanisms that accentuate insulin resistance. It is suggested that high iron concentrations could be a risk factor for gestational diabetes mellitus.

Consumo habitual de café y riesgo de eventos cerebrovasculares / Regular coffee consumption and stroke risk

Resumen Introducción: La enfermedad cerebrovascular es causa frecuente de morbimortalidad y, en ese sentido, el consumo de café tiene un impacto cardiovascular, por lo cual es importante evaluar la evidencia respecto a la asociación entre su consumo y la enfermedad cerebrovascular. Objetivo: Evaluar la asociación entre consumo de café y riesgo de morbimortalidad por enfermedad cerebrovascular. Método: Se realizó una búsqueda en las bases Medline, EMBASE, LILACS y Cochrane (enero de 1966 a junio de 2018) y se seleccionaron revisiones sistemáticas y metaanálisis evaluados de forma estandarizada y pareada. Se seleccionaron seis publicaciones. Resultados: Se encontró que el consumo de café en rango moderado (hasta cuatro tazas) se asocia a una reducción del riesgo de enfermedad cerebrovascular (riesgo relativo [RR] = 0.89, intervalo de confianza del 95% [IC95%]: 0.81-0.97, y RR: 0.83, IC95%: 0.75-0.91). Esta protección se mantiene en el subgrupo de mujeres, con reducciones del 13% (IC95%: 0.78-0.97) para una taza, del 16% (IC95%: 0.74-0.95) para dos tazas y 19% (RR: 0.81; IC95%: 0.70-0.93) (IC95%: 0.70-0.93) para cuatro o más tazas. Los hallazgos también son significativos para el subtipo isquémico (RR = 0.80; IC95%: 0.71-0.90). Conclusiones: El consumo de café reduce el riesgo de eventos cerebrovasculares entre un 11% y un 17%, y esto se mantiene en el subgrupo de mujeres y en el subtipo isquémico.

Abstract Introduction: Cerebrovascular disease is a frequent cause of morbidity and mortality and, in this sense, coffee consumption has a cardiovascular impact, which is why it is important to evaluate the evidence regarding the association between its consumption and cerebrovascular disease. Objective: To evaluate the association between coffee consumption and risk of morbidity and mortality due to cerebrovascular disease. Method: A search was carried out in the Medline, EMBASE, LILACS and Cochrane databases (January 1966 to June 2018), selecting systematic reviews and meta-analyzes evaluated in a standardized and paired way. Six publications were selected. Results: it was found that the consumption of coffee in a moderate range (up to 4 cups) is associated with a reduction in the risk of cerebrovascular disease (relative risk [RR] = 0.89, 95% confidence interval [95% CI]: 0.81- 0.97, and RR = 0.83, 95% CI: 0.75-0.91). This protection is maintained in the subgroup of women, with reductions of 13% (95% CI: 0.78-0.97) for a cup, 16% (95% CI: 0.74-0.95) for two cups, and RR = 0.81 (95% CI: 0.70-0.93) for four or more cups. The findings are also significant for the ischemic subtype (RR = 0.80; 95% CI: 0.71-0.90). Conclusions: Coffee consumption reduces the risk of cerebrovascular events between 11% and 17%, and this is maintained in the subgroup of women and in the ischemic subtype.

Patterns of genetic diversity in Colombia for 38 indels used in human identification.

The current population of Colombia has a genetic heterogeneity resulting from different migrations from other continents and within the country. In addition, there are small groups in their territory that have remained isolated and therefore have a different genetic pool in relation to that of the neighbouring urban populations. This population stratification must be considered in forensic analysis, being more complex for markers with marked intercontinental differentiation. In this study, population differentiation in Colombian admixed, native, and Afro-descendant populations was evaluated for a group of 38 indels described for forensic use. Allelic frequencies and parameters of forensic relevance were determined in each of the groups defined based on population differentiation analyses. In addition to the differences found between population groups, the results show that the set of 38 indels analysed could be useful in studies of individual identification in Colombia. The exclusion power presented by this set of markers suggests the need for joint use with other markers, being able to complement the STRs in paternity cases. High levels of both power of discrimination and exclusion were found when complementing the 38 HID-indels with a second multiplex, for a total of 83 indels.

Consumo habitual de café y riesgo de enfermedad cardiovascular: una evaluación crítica de la literatura / Regular coffee drinking and cardiovascular risk: A critical review of the literature

Resumen Objetivo Analizar y sintetizar la evidencia sobre el efecto del consumo habitual de café en la aparición de enfermedad cardiovascular. Métodos Se realizó una evaluación crítica de la literatura basada en metaanálisis y revisiones sistemáticas publicadas en Medline, EMBASE, Cochrane Database of Systematic Reviews y LILACS (enero 1966 a junio 2018). La búsqueda, selección y extracción de información fue llevada a cabo por una pareja de investigadores. La calidad de los manuscritos fue evaluada con AMSTAR. Resultados Se analizaron cuatro revisiones sistemáticas que consideraron como desenlaces enfermedad coronaria, riesgo cardiovascular e infarto del miocardio; para el primer y segundo desenlace se encontró una reducción del riesgo con consumo de 3-4 tazas/día (RR=0,90; IC95% 0,84-0,9; p de heterogeneidad=0,02 y RR=0,85; IC95% 0,80-0,90; p de heterogeneidad=0,09); para 1-2 tazas/día (RR=0,89; IC95% 0,85-0,94; p de heterogeneidad=0,83 y RR=0,89; IC95% 0,84-0,94; p de heterogeneidad=0,09) respectivamente. Para infarto agudo de miocardio se reportó un aumento del riesgo en hombres con consumo de 3-4 tazas/día (OR=1,75; IC95% 1,44-2,14; p de heterogeneidad=0,005) y de ≥ 4 tazas/día (OR=2,01; IC95% 1,7-2,36; p de heterogeneidad<0,001). Conclusiones Los consumos leves y moderados de café tienen un efecto neutro o de reducción del riesgo cardiovascular y de enfermedad coronaria; en contraste, el riesgo de infarto agudo de miocardio se incrementa con consumos mayores o iguales a 3 tazas/día en hombres. Se recomienda el consumo de hasta 3 tazas de café día y se desaconsejan consumos mayores, especialmente en hombres.

Abstract Objective To analyse and summarise the evidence on the effect of regular coffee drinking on the appearance of cardiovascular disease. Methods A critical review of the literature was carried out based on a meta-analysis and systematic reviews published in MedLine, EMBASE, Cochrane Database of Systematic Reviews, and LILACS (January 1966 to June 2018). The search, selection, and extraction of the information were performed by two investigators. The quality of the manuscripts was evaluated using AMSTAR. Results An analysis was made of 4 systematic reviews that considered coronary disease, cardiovascular risk, and myocardial infarction as outcomes. For the first and second outcomes, a reduction in risk was found with consuming 3-4 cups/day (RR=0.90; 95%CI; 0.84-0.9; P=.02, and RR=0.85; IC95% CI; 0.80-0.90; P=.09); for 1-2 cups/day (RR=0.89; 95%CI; 0.85-0.94; P=.83, and RR=0.89; 95%CI; 0.84-0.94; P=.09), respectively. As regards myocardial infarction, an increase in risk was reported with consuming 3-4 cups/day (OR=1.75; 95%CI; 1.44-2.14; P=.005) and ≥ 4 cups/day (OR=2.01; IC95%CI; 1.7-2.36; P<.001). Conclusion Mild and moderate consumption of coffee has a neutral effect or a reduction in cardiovascular risk and coronary disease. On the other hand, the risk of myocardial is increased with drinking more or equal to 3 cups/day in men. The drinking of up to 3 cups of coffee/day is recommended, and it is not advised to drink more, especially in men.

Relación entre el consumo habitual de café y la mortalidad general y cardiovascular: revisión de revisiones sistemáticas de la literatura / Relationship between habitual coffee consumption and all-cause and cardiovascular mortality: systematic review of reviews

El objetivo de este estudio fue establecer la relación entre consumo habitual de café y la mortalidad general y cardiovascular. En una búsqueda sistemática en Medline, EMBASE, LILACS y Cochrane se seleccionaron y analizaron revisiones sistemáticas y meta-análisis por una pareja de investigadores. De 181 referencias, 74 fueron seleccionadas por título y resumen; luego de eliminar duplicados y según el puntaje de calidad obtenido por AMSTAR, se consideraron 5 artículos para extracción y análisis. El consumo moderado de café (3 o 4 tazas) disminuye la mortalidad general, tanto comparado con el no consumo (RR= 0,83; IC95%: 0,79-0,88; I2= 83% para 3 tazas, y RR=0,84 IC95%: 0,82-0,87; I2= 58% para 4), como con un consumo mínimo (RR= 0,88; IC95%: 0,84-0,93; I2= 68,7% para 4 tazas, y RR= 0,87; IC95%: 0,83-0,91; I2= 59,8% para consumo entre 3 y 4 tazas). La mortalidad cardiovascular se reduce si se compara con el no consumo, para 4 tazas (RR= 0,80; IC95%: 0,74-0,86; I2= 58%) y (RR= 0,83; IC95%: 0,75-0,92, I2 = 92%) y para 3 tazas (RR= 0,81; IC95%: 0,72-0,90; I2= 92%) y RR (0,79; IC95% 0.74-0.84; I2= 58%). Como conclusión, el consumo habitual de 3 y 4 tazas de café reduce la mortalidad general y cardiovascular.

The objective of this study was to establish the relationship between habitual coffee consumption and all-cause and cardiovascular mortality. A systematic review was conducted using Medline, EMBASE, LILACS and Cochrane databases. Systematic reviews and meta-analysis were selected and analyzed. From 181 systematic reviews, 74 were selected by title and summary; after eliminating duplicates. According to the quality score of the AMSTAR tool, five articles were selected for information extraction and analysis. Moderate coffee consumption (3 or 4 cups) decreased overall mortality, compared to non-consumption (RR= 0.83, 95% CI: 0.79-0.88; I2= 83% for 3 cups, and RR= 0.84, 95% CI: 0.82-0.87; I2= 58% for 4 cups) and minimum consumption (RR= 0.88, 95% CI: 0.84-0.93; I2= 68.7% for 4 cups, and RR= 0.87, 95% CI: 0.83-0.91; I2= 59.8% between 3 and 4 cups). Cardiovascular mortality was reduced when compared to non-consumption, for 4 cups (RR= 0.80, 95% CI: 0.74-0.86; I2= 58%) and (RR= 0.83, 95% CI: 0.75-0.92; I2= 92%), and for 3 cups (RR= 0.81, 95 CI: 0.72-0.90; I2= 92%; RR= 0.79, 95% CI: 0.74-0.84; I2= 58%). In conclusion, habitual coffee consumption between 3 and 4 cups reduces the risk of all-cause and cardiovascular mortality.

Clinical characteristics and surgical treatment of schwannomas of the esophagus and stomach: A case series and systematic review.

BACKGROUND: Gastrointestinal schwannomas are slow-growing benign mesenchymal neoplasms that originate from Schwann cells of the nerve sheath of Auerbach´s plexus or less frequently from Meissner´s plexus. The main differential diagnosis of gastric schwannomas are the gastrointestinal stromal tumors (GISTs), which are classified by their immunohistochemistry. The treatment of choice for gastric schwannomas is surgery where laparoscopy plays an important role. Wedge resection, subtotal or total gastrectomy can be done. In its counterpart, esophageal schwannomas are benign tumors of the esophagus that are very uncommon since they comprise less than 2% of all esophageal tumors. The main differential diagnosis is the leiomyoma which corresponds to the most common benign esophageal tumor, followed by GIST. The treatment consists on tumoral enucleation or esophagectomy. AIM: To review the available literature about gastrointestinal schwannomas; especially lesions from de stomach and esophagus, including diagnosis, treatment, and follow up, as well as, reporting our institutional experience. METHODS: A systematic review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyzes guidelines. The following databases were used for reviewing process: PubMed, Ovid, MEDLINE, and Scopus. Only English language manuscripts were included. All gastrointestinal schwannomas specifically located in the esophagus and stomach were included. Cases that did not report long-term follow-up were excluded. RESULTS: Gastric localization showed a higher prevalence in both, the literature review and our institution: 94.95% (n = 317) and 83% (n = 5) respectively. With a follow-up with disease-free survival greater than 36 mo in most cases: 62.01% (n = 80) vs 66.66% (n = 4). In both groups, the median size was > 4.1 cm. Surgical treatment is curative in most cases. CONCLUSION: Schwannoma must be taken into account in the differential diagnosis of gastrointestinal mesenchymal tumors. It has a good prognosis, and most are benign. A disease-free survival of more than 36 mo can be achieved by surgery.

Anatomy of the Brachycephalic Canine Hard Palate and Treatment of Acquired Palatitis Using CO2 Laser.

The goal of this article is to review the anatomy of the brachycephalic canine hard palate and provide a step-by-step guide on diagnosis and treatment of acquired palatitis using the CO2 surgical laser. Brachycephalic breed-related defects are not only limited to the upper airways, some dogs may develop secondary systemic or localized problems. An abnormality that is over-represented in some breeds such as boxers and bulldogs is prominent palatal rugae. The greater depth of the palatal rugae allows for the entrapment of plaque, food debris and hair. Thus, acquired palatitis or granulomatous lesions may develop. This oral pathology and its consequences are commonly neglected by the owners and frequently missed by the veterinarians. Scientific evidence-based diagnosis and treatment for this breed-related oral pathology are absent in the veterinary literature. This article is the first in providing the elements needed for an adequate morphological characterization of the canine hard palate, allowing veterinarians to appropriately identify anomalous areas of the soft tissue component of the hard palate. This article illustrates the use of a noninvasive surgical technique to prevent and cure the sequelae associated with anomalous palatal rugae. The CO2 surgical laser provides a suitable method by offering the fast resolution of the lesions and permanent results.

Diabetes in Pregnancy and MicroRNAs: Promises and Limitations in Their Clinical Application.

Maternal diabetes is associated with an increased risk of complications for the mother and her offspring. The latter have an increased risk of foetal macrosomia, hypoglycaemia, respiratory distress syndrome, preterm delivery, malformations and mortality but also of life-long development of obesity and diabetes. Epigenetics have been proposed as an explanation for this long-term risk, and microRNAs (miRNAs) may play a role, both in short- and long-term outcomes. Gestation is associated with increasing maternal insulin resistance, as well as ß-cell expansion, to account for the increased insulin needs and studies performed in pregnant rats support a role of miRNAs in this expansion. Furthermore, several miRNAs are involved in pancreatic embryonic development. On the other hand, maternal diabetes is associated with changes in miRNA both in maternal and in foetal tissues. This review aims to summarise the existing knowledge on miRNAs in gestational and pre-gestational diabetes, both as diagnostic biomarkers and as mechanistic players, in the development of gestational diabetes itself and also of short- and long-term complications for the mother and her offspring.

Malignant Transformation of a Canine Papillomavirus Type 1-Induced Persistent Oral Papilloma in a 3-Year-Old Dog.

This case report describes a rare case of a persistent canine papillomavirus type 1 (CPV-1)-induced oral papilloma that underwent malignant transformation into an oral squamous cell carcinoma (OSCC) in a 3-year-old Labrador retriever cross. Initially, the patient had multiple and multifocal verrucous lesions populating the oral cavity exclusively. The papillomas persisted despite multiple surgical ablations, azithromycin, interferon α-2b, alternative medicines, and off-label drug use of an immunostimulant. After 1 year and 6 months, an aggressive lesion developed at the level of the left mandibular first molar (309) and progressed to a well-differentiated invasive OSCC. The presence of CPV-1 DNA in the OSCC, and the known oncogenic abilities of CPV-1, suggests that this virus might have played a significant role in the emergence of the OSCC that ultimately led to the patient's euthanasia due to poor quality of life. This is the first well-documented case where OSCC has developed from an oral papilloma caused by CPV-1 in which the presence of coinfection by another papillomavirus was excluded by multiple polymerase chain reaction tests using various primers.

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.

The Effects of Dietary Iron and Capsaicin on Hemoglobin, Blood Glucose, Insulin Tolerance, Cholesterol, and Triglycerides, in Healthy and Diabetic Wistar Rats.

OBJECTIVE: Our aim was to assess the effects of dietary iron, and the compound capsaicin, on hemoglobin as well as metabolic indicators including blood glucose, cholesterol, triglycerides, insulin, and glucose tolerance. MATERIALS AND METHODS: Our animal model was the Wistar rat, fed a chow diet, with or without experimentally induced diabetes. Diabetic males were fed control, low, or high-iron diets, the latter, with or without capsaicin. Healthy rats were fed identical diets, but without the capsaicin supplement. We then measured the parameters listed above, using the Student t-test and ANOVA, to compare groups. RESULTS: Healthy rats fed a low-iron diet exhibited significantly reduced total cholesterol and triglyceride levels, compared with rats fed a control diet. Significantly reduced blood lipid was also provoked by low dietary iron in diabetic rats, compared with those fed a control diet. Insulin, and glucose tolerance was only improved in healthy rats fed the low-iron diet. Significant increases in total cholesterol were found in diabetic rats fed a high-iron diet, compared with healthy rats fed the same diet, although no statistical differences were found for triglycerides. Hemoglobin levels, which were not statistically different in diabetic versus healthy rats fed the high-iron diet, fell when capsaicin was added. Capsaicin also provoked a fall in the level of cholesterol and triglycerides in diabetic animals, versus diabetics fed with the high iron diet alone. In conclusion, low levels of dietary iron reduced levels of serum triglycerides, hemoglobin, and cholesterol, and significantly improved insulin, and glucose tolerance in healthy rats. In contrast, a high-iron diet increased cholesterol significantly, with no significant changes to triglyceride concentrations. The addition of capsaicin to the high-iron diet (for diabetic rats) further reduced levels of hemoglobin, cholesterol, and triglycerides. These results suggest that capsaicin, may be suitable for the treatment of elevated hemoglobin, in patients.

High-efficiency genome editing via 2A-coupled co-expression of fluorescent proteins and zinc finger nucleases or CRISPR/Cas9 nickase pairs.

Targeted endonucleases including zinc finger nucleases (ZFNs) and clustered regularly interspaced short palindromic repeats (CRISPRs)/Cas9 are increasingly being used for genome editing in higher species. We therefore devised a broadly applicable and versatile method for increasing editing efficiencies by these tools. Briefly, 2A peptide-coupled co-expression of fluorescent protein and nuclease was combined with fluorescence-activated cell sorting (FACS) to allow for efficient isolation of cell populations with increasingly higher nuclease expression levels, which translated into increasingly higher genome editing rates. For ZFNs, this approach, combined with delivery of donors as single-stranded oligodeoxynucleotides and nucleases as messenger ribonucleic acid, enabled high knockin efficiencies in demanding applications, including biallelic codon conversion frequencies reaching 30-70% at high transfection efficiencies and ∼ 2% at low transfection efficiencies, simultaneous homozygous knockin mutation of two genes with ∼ 1.5% efficiency as well as generation of cell pools with almost complete codon conversion via three consecutive targeting and FACS events. Observed off-target effects were minimal, and when occurring, our data suggest that they may be counteracted by selecting intermediate nuclease levels where off-target mutagenesis is low, but on-target mutagenesis remains relatively high. The method was also applicable to the CRISPR/Cas9 system, including CRISPR/Cas9 mutant nickase pairs, which exhibit low off-target mutagenesis compared to wild-type Cas9.

Evaluating the X chromosome-specific diversity of Colombian populations using insertion/deletion polymorphisms.

The European and African contribution to the pre-existing Native American background has influenced the complex genetic pool of Colombia. Because colonisation was not homogeneous in this country, current populations are, therefore, expected to have different proportions of Native American, European and African ancestral contributions. The aim of this work was to examine 11 urban admixed populations and a Native American group, called Pastos, for 32 X chromosome indel markers to expand the current knowledge concerning the genetic background of Colombia. The results revealed a highly diverse genetic background comprising all admixed populations, harbouring important X chromosome contributions from all continental source populations. In addition, Colombia is genetically sub-structured, with different proportions of European and African influxes depending on the regions. The samples from the North Pacific and Caribbean coasts have a high African ancestry, showing the highest levels of diversity. The sample from the South Andean region showed the lowest diversity and significantly higher proportion of Native American ancestry than the other samples from the North Pacific and Caribbean coasts, Central-West and Central-East Andean regions, and the Orinoquian region. The results of admixture analysis using X-chromosomal markers suggest that the high proportion of African ancestry in the North Pacific coast was primarily male driven. These men have joined to females with higher Native American and European ancestry (likely resulting from a classic colonial asymmetric mating type: European male x Amerindian female). This high proportion of male-mediated African contributions is atypical of colonial settings, suggesting that the admixture occurred during a period when African people were no longer enslaved. In the remaining regions, the African contribution was primarily female-mediated, whereas the European counterpart was primarily male driven and the Native American ancestry contribution was not gender biased.

Comparison of the genetic background of different Colombian populations using the SNPforID 52plex identification panel.

Various strategies for analysing SNP markers and genotyping have been published with the goal of obtaining informative profiles from biological samples that contain only small amounts of template and/or degraded DNA. In this study, a multiplex assay of 52 autosomal single-nucleotide polymorphisms (SNPs) was used to analyse 438 individuals from urban populations from different regions of Colombia, as well as a sample of 50 Native American individuals of the Pastos ethnic group from Nariño. To determine if significant differences in these 52 SNPs exist between the distinct regions of Colombia, genetic distance and admixture analyses were performed based on the available data for 17 different Colombian population groups and for population groups from Africa, Europe and America. The results demonstrate significant differences between the populations from the Southwest Andean, Central-West Andean, Central-East Andean, Orinoquian and northern Colombian Pacific Coast regions. Most of the regions exhibited a European and Native American admixture. One exception is the population from the region of Chocó (on the northern Pacific Coast), which exhibits a high proportion of African admixture (54 %). From the observed genetic backgrounds, it is possible to conclude that a single reference database for the entire country would not be suitable for forensic purposes. The allele frequencies and the forensically relevant parameters were calculated for all of the markers in each Colombian region with significant values for the combined matching probability (power of discrimination ≥0.99999999999999990) and the combined probability of exclusion (≥0.9990) in trios that were obtained from all of the population groups.

Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas.

Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted in varying proportions of ancestral contributions between individuals within and among ethnic groups. We developed a panel of 446 ancestry informative markers (AIMs) optimized to estimate ancestral proportions in individuals and populations throughout Latin America. We used genome-wide data from 953 individuals from diverse African, European, and Native American populations to select AIMs optimized for each of the three main continental populations that form the basis of modern Latin American populations. We selected markers on the basis of locus-specific branch length to be informative, well distributed throughout the genome, capable of being genotyped on widely available commercial platforms, and applicable throughout the Americas by minimizing within-continent heterogeneity. We then validated the panel in samples from four admixed populations by comparing ancestry estimates based on the AIMs panel to estimates based on genome-wide association study (GWAS) data. The panel provided balanced discriminatory power among the three ancestral populations and accurate estimates of individual ancestry proportions (R² > 0.9 for ancestral components with significant between-subject variance). Finally, we genotyped samples from 18 populations from Latin America using the AIMs panel and estimated variability in ancestry within and between these populations. This panel and its reference genotype information will be useful resources to explore population history of admixture in Latin America and to correct for the potential effects of population stratification in admixed samples in the region.