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OBJECTIVES: Determine the geographic place of origin and maternal lineage of prehistoric human skeletal remains discovered in Puyil Cave, Tabasco State, Mexico, located in a region currently populated by Olmec, Zoque and Maya populations. MATERIALS AND METHODS: All specimens were radiocarbon (14C) dated (beta analytic), had dental modifications classified, and had an analysis of 13 homologous reference points conducted to evaluate artificial cranial deformation (ACD). Following DNA purification, hypervariable region I (HVR-1) of the mitogenome was amplified and Sanger sequenced. Finally, Next Generation Sequencing (NGS) was performed for total DNA. Mitochondrial DNA (mtDNA) variants and haplogroups were determined using BioEdit 7.2 and IGV software and confirmed with MITOMASTER and WebHome softwares. RESULTS: Radiocarbon dating (14C) demonstrated that the inhabitants of Puyil Cave lived during the Archaic and Classic Periods and displayed tabular oblique and tabular mimetic ACD. These pre-Hispanic remains exhibited five mtDNA lineages: A, A2, C1, C1c and D4. Network analysis revealed a close genetic affinity between pre-Hispanic Puyil Cave inhabitants and contemporary Maya subpopulations from Mexico and Guatemala, as well as individuals from Bolivia, Brazil, the Dominican Republic, and China. CONCLUSIONS: Our results elucidate the dispersal of pre-Hispanic Olmec and Maya ancestors and suggest that ACD practices are closely related to Olmec and Maya practices. Additionally, we conclude that ACD has likely been practiced in the region since the Middle-Archaic Period.

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Case description: Three cases of patients diagnosed with Hemi-uterus with non-communicating functional rudimentary cavity are reported. Clinical findings: Adolescent patients with the presence of disabling pelvic pain during menstrual periods, in addition to depressive states and functional disability secondary to pain. Treatment and outcome: Reconstruction of Hemi-uterus with non-communicating functional rudimentary cavity using a microsurgical technique, without the need for non-communicating horn resection. The patients were assessed at the 1st, third, and sixth months, showing a marked improvement in their dysmenorrhea. In addition, there was an improvement in the depressive state; there was no change in the volume of her menstrual bleeding, and one of these patients achieved pregnancy with normal prenatal control and cesarean delivery, obtaining a full-term newborn without complications. Clinical Relevance: 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.

Descripción del caso: Se reportan tres casos de pacientes con diagnóstico de Hemiútero con cavidad rudimentaria funcional no comunicante. Hallazgos clínicos: Pacientes adolescentes con presencia de dolor pélvico incapacitante durante los períodos menstruales, además de estados depresivos e incapacidad funcional secundaria al dolor. Tratamiento y resultado: Reconstrucción de Hemiútero con cavidad rudimentaria funcional no comunicante mediante técnica microquirúrgica, sin necesidad de resección de cuerno no comunicante. Las pacientes fueron evaluadas al 1, 3 y 6 mes, mostrando una marcada mejoría en su dismenorrea. Además, hubo mejoría en el estado depresivo; no hubo cambio en el volumen de su sangrado menstrual, y una de estas pacientes logró el embarazo con control prenatal normal y parto por cesárea, obteniendo un recién nacido a término sin complicaciones. Relevancia clínica: Descripción de una novedosa técnica microquirúrgica para el manejo del Hemiútero con cavidad rudimentaria funcional no comunicante, que podría beneficiar no solo la reducción de los síntomas asociados, sino que podría convertirse en una alternativa para mejorar la fertilidad en estas pacientes.

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Abstract Case description: Three cases of patients diagnosed with Hemi-uterus with non-communicating functional rudimentary cavity are reported. Clinical findings: Adolescent patients with the presence of disabling pelvic pain during menstrual periods, in addition to depressive states and functional disability secondary to pain. Treatment and outcome: Reconstruction of Hemi-uterus with non-communicating functional rudimentary cavity using a microsurgical technique, without the need for non-communicating horn resection. The patients were assessed at the 1st, third, and sixth months, showing a marked improvement in their dysmenorrhea. In addition, there was an improvement in the depressive state; there was no change in the volume of her menstrual bleeding, and one of these patients achieved pregnancy with normal prenatal control and cesarean delivery, obtaining a full-term newborn without complications. Clinical Relevance: 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.

Resumen Descripción del caso: Se reportan tres casos de pacientes con diagnóstico de Hemiútero con cavidad rudimentaria funcional no comunicante. Hallazgos clínicos: Pacientes adolescentes con presencia de dolor pélvico incapacitante durante los períodos menstruales, además de estados depresivos e incapacidad funcional secundaria al dolor. Tratamiento y resultado: Reconstrucción de Hemiútero con cavidad rudimentaria funcional no comunicante mediante técnica microquirúrgica, sin necesidad de resección de cuerno no comunicante. Las pacientes fueron evaluadas al 1, 3 y 6 mes, mostrando una marcada mejoría en su dismenorrea. Además, hubo mejoría en el estado depresivo; no hubo cambio en el volumen de su sangrado menstrual, y una de estas pacientes logró el embarazo con control prenatal normal y parto por cesárea, obteniendo un recién nacido a término sin complicaciones. Relevancia clínica: Descripción de una novedosa técnica microquirúrgica para el manejo del Hemiútero con cavidad rudimentaria funcional no comunicante, que podría beneficiar no solo la reducción de los síntomas asociados, sino que podría convertirse en una alternativa para mejorar la fertilidad en estas pacientes

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INTRODUCCIÓN: El síndrome de X frágil (SXF) es la primera causa heredable de discapacidad intelectual y autismo. Mujeres con la premutación del gen FMR1, relacionado con SXF, suelen ser asintomáticas, pero pueden tener hijos afectados. Se reporta un caso de SXF producto de fecundación in vitro con óvulos de una donante portadora de la premutación del FMR1. DESCRIPCIÓN DEL CASO: Pareja que requirió reproducción asistida dado que la mujer tenía antecedente de hipofisectomía; se realizó fecundación in vitro con óvulo donado, lográndose un embarazo gemelar. El gemelo femenino fue diagnosticado a los 2 años de edad con mutación completa del gen FMR1 y SXF, y la donante de óvulos, quien era asintomática, fue posteriormente confirmada como portadora de la premutación del FMR1. DISCUSIÓN: El protocolo de evaluación del riesgo de heredar enfermedades genéticas para donantes de óvulos se limita al cariotipo bandas G. Esta prueba no analiza alteraciones genéticas de herencia recesiva. Mediante secuenciación de nueva generación se podrían identificar portadoras de variantes alélicas patogénicas en estado de heterocigosis. Las mujeres con premutación del FMR1, tienen un riesgo del 50% de transmitir el alelo anormal a sus descendientes en cada embarazo, y estos de ser afectados por el SXF; por tanto, la asesoría genética es requerida en estos casos. CONCLUSIÓN: Los donantes de gametos deberían ser evaluados mediante pruebas moleculares para detección de variantes alélicas que pudieran ser transmitidas a sus gametos, y que pudieran generar enfermedades genéticas en los embarazos a partir de ellos.

INTRODUCTION: Fragile X syndrome (SXF) is the lead hereditary cause of intellectual disability and autism. Women with premutation in FMR1 gene, related to SXF, are usually asymptomatic, but they could have affected children. We report a case of SXF, product of an in vitro fertilization, secondary to an egg donation from a carrier of the premutation in the FMR1 gene. DESCRIPTION OF THE CASE: A couple required assisted reproduction because the woman had antecedent of hypophysectomy. An in vitro fertilization was done using a donated egg, achieving a twin pregnancy. The female twin was diagnosed with full mutation in the FMR1 gene and SXF by her second year of age. Donor woman, who was asymptomatic, was found to be a carrier of the premutation for SXF. DISCUSSION: The protocols to evaluate the risk of inherit genetic diseases for egg donors stint to band G karyotypes, which don—t consider genetic alterations with recessive inheritance pattern. Next generation sequencing allows to identify carriers of allelic heterozygote variations related with pathology. Women with the premutation in FMR1 have a risk of 50%, in each pregnancy, to pass down an affected allele to their offspring, who would be affected by SXF. Genetic counseling is mandatory in that cases. CONCLUSION: Gamete donor candidates should be submitted to molecular tests to identify allelic variants that could be inherited to the recipient offspring and cause genetic diseases.

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Sex identification of ancient individuals is important to understand aspects of the culture, demographic structure, religious practices, disease association, and the history of the ancient civilizations. Sex identification is performed using anthropometric measurements and molecular genetics techniques, including quantification of the X and Y chromosomes. These approaches are not always reliable in subadult, or fragmented, incomplete skeletons or when the DNA is highly degraded. Most of the methods include the identification of the male and female sexes, but the absence of a specific marker for the males does not mean that the sample obtained was from a female. This study aims (1) to identify new male-specific regions that allow male identification; (2) to contrast the effectiveness of these markers against AMELX/AMELY and anthropometric measurement procedures; and (3) to test the efficacy of these markers in archaeological samples. For the first two aims, we used known sex samples, and for the third aim, we used samples from different archaeological sites. A novel molecular technique to identify male-specific regions by amplification of TTTY7, TSPY3, TTTY2, and TTTY22 genes of the human Y chromosome was developed. The results showed amplification of the specific DNA regions of Y chromosome in male individuals, with no amplification being observed in any of the female samples, confirming their specificity for male individuals. This approach complements the current procedures, such as the AMELX/AMELY test and anthropometric principle.

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BACKGROUND: The purpose of this study was to determine the concentration of inorganic arsenic (As) in the potable water available to the population to be able to estimate the non-carcinogenic risks for underweight children and the carcinogenic risk for adults exposed to As intake who live in the Mezquital municipality, Durango, Mexico. METHODS: The As content was quantifed in the water supply sources for human use and its intake was estimated in Mezquital population, southern Durango. With the data obtained, the hazard quotient (HQ) was calculated to determine the non-carcinogenic risk to develop chronic systemic effects in underweight children. The Environmental Protection Agency (EPA) reference health values estimating As exposure risk are from 0.0003 mg/kg/day (non-carcinogenic) to 1.5 mg/kg/day (carcinogenic risk). RESULTS: The analyzed waters presented as concentrations that varied from 0.3 to 10.2 µg/L, with a mean of 7.35 µg/L (CI 95% 6.27-8.38). The exposure dose was 0.4 to 1.36, and the HQ was 1.90 to 6.48 mg/kg/day, the estimated carcinogenic risk from adults varied from 1.28 to 4.37E-4, with values of 3.74-4.37E-4 mg/kg/day in central area. CONCLUSIONS: The children are at risk to develop chronic systemic effects due to ingestion of As from water.

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Introducción: Poco se sabe acerca de la presencia del VPH en la mucosa oral en población sana y cuales son los factores de riesgo que pueden llevar al virus a una infección persistente que conduzca al desarrollo de un carcinoma. Objetivos: En el presente estudio la detección del VPH se realizó en muestras de ADN obtenidas de la mucosa oral de 76 mujeres sanas. Métodos: El VPH se detectó mediante la técnica de PCR anidada para el gen viral L1. La genotipificación se realizó mediante la secuenciación directa del fragmento del gen L1 amplificado por el método de Sanger, seguido de un análisis de porcentajes de identidad. Resultados: El porcentaje de detección de VPH fue de 6.6 por ciento. Los genotipos virales identificados fueron HPV-11, HPV-43 y HPV-72, todos clasificados de bajo riesgo oncológico. Además, se observó que el no uso del condón en este grupo de edad se asoció significativamente con la presencia de VPH en la mucosa oral (p = 0.037). Conclusión: En la presente investigación exploratoria se evidencio una mayor detección de VPH en la mucosa oral de mujeres sanas y su presencia se asocia con una vida sexual activa sin una protección adecuada contra su transmisión.

Introduction: Little is known about the presence of HPV in the oral mucosa in the healthy population and what risk factors can lead the virus to a persistent infection that leads to the development of a carcinoma. Objectives: In the present study, HPV detection was performed on DNA samples obtained from the oral mucosa of 76 healthy women, and the presence of the virus was associated with the sexual behavior of the participants. Methods: HPV was detected by the nested PCR technique for the viral gene L1. Genotyping was performed by direct sequencing of the L1 gene fragment amplified by the Sanger method, followed by an analysis of identity percentages. Results: The percentage of detection of HPV was 6.6 percent. The viral genotypes identified were HPV-11, HPV-43 and HPV-72, all classified as low oncological risk. In addition, it was observed that the lack of condom usage in this age group was significantly associated with the presence of HPV in the oral mucosa (p = 0.037). Conclusion: In the present exploratory research the detection of HPV in the oral mucosa of healthy women is evidenced, and its presence is associated with an active sexual life without adequate protection against its transmission.

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INTRODUCCIÓN: Los divertículos de Zenker son los divertículos más frecuentes del esófago. El tratamiento quirúrgico más utilizado es la diverticulectomía con miotomía del cricofaríngeo abierta. En años recientes se ha propuesto el tratamiento endoscópico. OBJETIVO: Presentar la experiencia en el manejo de esta patología en un hospital de referencia. MÉTODO: Fueron revisados los expedientes de los pacientes intervenidos quirúrgicamente por divertículo de Zenker en un periodo de 7 años. Los datos obtenidos incluyeron demográficos, cuadro clínico, abordaje diagnóstico, hallazgos transoperatorios y evolución posoperatoria. RESULTADOS: Fueron intervenidos 10 pacientes durante este periodo, con una edad promedio de 64 años (± 8); siete de ellos eran hombres. Los principales síntomas fueron regurgitación y disfagia, presentes en ocho y siete pacientes, respectivamente. Los estudios diagnósticos incluyeron endoscopia (nueve pacientes), esofagograma (seis pacientes) y manometría esofágica (tres pacientes). El tratamiento utilizado en todos los casos fue diverticulectomía con miotomía del cricofaríngeo. Las complicaciones incluyeron perforación esofágica transoperatoria (un paciente) y fístula esofágica (un paciente). Hubo resolución de los síntomas en nueve pacientes; el paciente restante ameritó nueva miotomía seis meses después, con una adecuada evolución. No hubo ninguna muerte. CONCLUSIONES: La diverticulectomía con miotomía del cricofaríngeo es un tratamiento quirúrgico seguro para los pacientes con divertículo de Zenker. BACKGROUND: Zenker's diverticulum represents the most common diverticulum of the esophagus. The standard surgical treatment consists of open cricopharyngeal myotomy with diverticulectomy. In recent years endoscopic treatment has been proposed. OBJECTIVE: We present the surgical experience of this disease in a referral hospital. METHOD: We reviewed the clinical records of all patients submitted to open surgical treatment for Zenker's diverticulum in a 7-year period. The retrieved information included demographic data, clinical manifestations, diagnostic approach, surgery findings and postoperative evolution. RESULTS: During this period 10 patients were submitted to open surgical treatment; the mean age was 64 (± 8) years and seven of them were male. The main complaint was regurgitation and dysphagia that was present in eight and seven patients respectively. Diagnostic studies included endoscopy (nine patients), esophagogram (six patients) and esophageal manometry (three patients). All underwent open cricopharyngeal myotomy with diverticulectomy. Complications included intraoperative esophageal perforation (one patient) and postoperative esophageal fistula (one patient). Resolution of the symptomatology occurred in 9 patients, the other patient required a new myotomy six months later with good results. There was no mortality. CONCLUSIONS: Cricopharyngeal myotomy with diverticulectomy is a safe option for patients with Zenker's diverticulum.

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BACKGROUND: The Da Vinci Robotic Surgical System has positioned itself as a tool that improves the ergonomics of the surgeon, facilitating dissection in confined spaces and enhancing the surgeon's skills. The technical aspects for successful bile duct repair are well-vascularized ducts, tension-free anastomosis, and complete drainage of hepatic segments, and all are achievable with robotic-assisted approach. METHODS: This was a retrospective study of our prospectively collected database of patients with iatrogenic bile duct injury who underwent robotic-assisted Roux-en-Y hepaticojejunostomy. Pre-, intra-, and short-term postoperative data were analyzed. RESULTS: A total of 30 consecutive patients were included. The median age was 46.5 years and 76.7% were female. Neo-confluences with section of hepatic segment IV were performed in 7 patients (those classified as Strasberg E4). In the remaining 23, a Hepp-Couinaud anastomosis was built. There were no intraoperative complications, the median estimated blood loss was 100 mL, and the median operative time was 245 min. No conversion was needed. The median length of stay was 6 days and the median length of follow-up was 8 months. The overall morbidity rate was 23.3%. Two patients presented hepaticojejunostomy leak. No mortality was registered. CONCLUSION: Robotic surgery is feasible and can be safely performed, with acceptable short-term results, in bile duct injury repair providing the advantages of minimally invasive surgery. Further studies with larger number of cases and longer follow-up are needed to establish the role of robotic assisted approaches in the reconstruction of BDI.

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Los tumores cardíacos primarios son una afección rara, con incidencias menores al 0.3% en series de necropsias. Objetivos: Determinar las características demográficas, clínicas, terapéuticas y evolución de los pacientes con tumor cardíaco atendidos en un hospital general. Material y métodos: Estudio retrospectivo y descriptivo, tipo serie de casos. Se revisó la base de datos del Servicio para identificar los pacientes con diagnóstico final de tumor cardíaco, desde enero de 2008 a septiembre de 2015. Se revisaron las historias clínicas disponibles y se obtuvo el reporte de patología de los pacientes. Se determinaron las características clínicas de la población. Resultados: Se encontraron 10 pacientes que contaban con datos clínicos y de patología completos. La localización más común fue la aurícula izquierda. Los síntomas iniciales principales fueron disnea y síndrome de falla cardíaca congestiva. Las causas de muerte no pudieron ser identificadas. Conclusiones: La población de pacientes analizada tiene una distribución comparable con los reportes a nivel mundial. La neoplasia cardíaca más común fue el mixoma localizado en la aurícula izquierda. (AU)

Primary heart tumors are rare conditions with an incidence of less than 0.3% in necropsy studies. Objectives: To determine demographic, clinical and therapeutic features of primary heart tumors in a general hospital. Methods: A retrospective and descriptive study was carried out from January 2008 to September 2015. A hospital data base was reviewed to identify patients with the diagnosis of primary heart tumors, clinical charts and pathology reports were reviewed. Results: 10 patients with complete information were found. The most common location was the left atrium. Dyspnea and congestive heart failure were the main clinical onset manifestations. Causes of death could not be determined. Conclusions: The most common heart tumor was left atrial myxoma which correlates with what is reported worldwide. (AU)

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