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Hereditary breast and ovarian cancer (HBOC) syndrome is a genetic condition that increases the risk of breast cancer by 80% and that of ovarian cancer by 40%. The most common pathogenic variants (PVs) causing HBOC occur in the BRCA1 gene, with more than 3850 reported mutations in the gene sequence. The prevalence of specific PVs in BRCA1 has increased across populations due to the effect of founder mutations. Therefore, when a founder mutation is identified, it becomes key to improving cancer risk characterization and effective screening protocols. The only founder mutation described in the Mexican population is the deletion of exons 9 to 12 of BRCA1 (BRCA1Δ9-12), and its description focuses on the gene sequence, but no transcription profiles have been generated for individuals who carry this gene. In this study, we describe the transcription profiles of cancer patients and healthy individuals who were heterozygous for PV BRCA1Δ9-12 by analyzing the differential expression of both alleles compared with the homozygous BRCA1 control group using RT-qPCR, and we describe the isoforms produced by the BRCA1 wild-type and BRCA1Δ9-12 alleles using nanopore long-sequencing. Using the Kruskal-Wallis test, our results showed a similar transcript expression of the wild-type allele between the healthy heterozygous group and the homozygous BRCA1 control group. An association between the recurrence and increased expression of both alleles in HBOC patients was also observed. An analysis of the sequences indicated four wild-type isoforms with diagnostic potential for discerning individuals who carry the PV BRCA1Δ9-12 and identifying which of them has developed cancer.

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BACKGROUND: Scarce evidence exists on barriers to physical activity in Mexican women. Despite evidence from other countries, no research has investigated the influence of the breast on PA in this population. OBJECTIVE: To determine the association between the breast and physical activity in Mexican women. DESIGN: Cross-sectional observational study. METHODS: Volunteers were 279 Mexican women from Veracruz, Durango, and Baja California states, who completed a paper survey of their demographics, brassiere characteristics, breast pain, and frequency and amounts of weekly physical activity. RESULTS: The first barrier to physical activity was time constraints, followed by breast-related issues. Breast pain was reported by 47.1% of women, and the breast as a barrier to physical activity participation was reported by 30.6%. Responses, such as "I am embarrassed by excessive breast movement" and "My breasts are too big" were the most frequently reported breast-related barriers to physical activity. Breast pain was associated with the menstrual cycle and exercise. Breast health knowledge and pain intensity were unrelated to moderate- and vigorous-intensity physical activity. The 36.4% and 6.7% of women did not meet weekly moderate- and vigorous-intensity physical activity guidelines, respectively. Weekly moderate- and vigorous-intensity physical activity was similar between women reporting breast pain and those who did not. CONCLUSIONS: Because the breast was the second most significant barrier to physical activity, it is imperative to increase breast health knowledge in Mexican women to reduce impediments to physical activity.

Perception of Mexican women regarding their breasts as a barrier to physical activityPhysical activity provides numerous health benefits, sometimes associated with reversing or delaying several diseases. However, barriers to increasing physical activity in women remain, as the breast is an anatomical aspect that is unique to women. Breast pain has been reported in more than 50% of women who perform physical exercise. Therefore, the study aimed to determine the associations between breast characteristics and barriers to physical activity in Mexican women. Two hundred and seventy-nine women from three Mexican states voluntarily participated in the study. They answered survey questions on the history of bra use, barriers to physical activity, and essential demographic characteristics. The main findings of this study were that issues related to the breasts were reported as the second barrier to physical activity participation. In addition, time constraints were reported as the main reason impeding physical activity participation. Public health initiatives should support attempts to increase breast satisfaction among women of all breast sizes to stimulate engagement in physical activity throughout their lives.

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Personal Comfort Systems (PCS) are equipments that heat and/or cool occupants without affecting surrounding environments, ranging from commonly used devices to innovative technologies, and that tend to be controlled by people. These systems aim to address energy consumption and occupant satisfaction issues related to centralised air-conditioning. Although there are systematic studies on these systems, there is a lack of documentation regarding mediation characteristics between people and the built environment. This article presents a systematic review of PCS using a search of academic literature and patents, classifying PCS based on thermal categories and device typologies while introducing post-phenomenological mediation categories. The results show that most PCS fall into the thermal categories of 'Heating' and 'Cooling and ventilation'. The review also presents a view of the PCS territory based on mediation attributes and technological complexity. Finally, the PCS' characteristics are discussed based on the post-phenomenological concepts of Embodiment, Hermeneutic, and Background providing insights for future research opportunities and PCS development.

Practitioner summary: This study presents a systematic review of Personal Comfort Systems (PCS) found in patents and academic databases, integrating post-phenomenological concepts into PCS discussion. It visualises the PCS territory using a matrix based on mediation relations and technological complexity, providing insights into PCS development and research opportunities.

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BACKGROUND: Bowel obstruction due to accidental ingestion of foreign objects occurs rarely in children because 80 to 90% of the objects can pass freely through the gastrointestinal tract. CASE REPORT: We report a case of a 14-month-old infant who presented bowel obstruction caused by the ingestion of hydrogel beads (sodium polyacrylate). Hydrogel beads are used as sensory and didactic toys that can increase their initial size 200 to 400 times by liquid absorption. An abdominal X-ray was perfomed in anteroposterior supine projection, where a round filling defect at the loop of the right flank was detected; this came to our attention because hydrogel beads are usually radiolucent. The diagnosis was established by abdominal ultrasound where free intraperitoneal fluid was reported with data of small bowel pseudo-obstruction by foreign objects. Conservative treatment was prescribed, finding persistence of increased abdominal perimeter, so an enterotomy was performed for their removal; finding impacted hydrogel beads 30 centimeters from the ileocecal valve. CONCLUSIONS: Hydrogel beads are dangerous for the pediatric population. The evolution of the patient was favorable thanks to the knowledge of the foreign objects ingested. The expectant behavior that had to be executed, stands out because we had no knowledge as to the maximum size of the hydrogel in the gastrointestinal tract.

INTRODUCCIÓN: La obstrucción intestinal por ingesta accidental de cuerpos extraños se presenta muy rara vez en la edad pediátrica debido a que del 80 al 90% de los objetos pueden pasar libremente por el tracto gastrointestinal. CASO CLÍNICO: Se aborda el caso de una paciente de sexo femenino de 1 año 2 meses quien presentó obstrucción intestinal debido a la ingesta de esferas de hidrogel (poliacrilato de sodio). Dichas esferas, que son utilizadas como juguetes didácticos o sensoriales, aumentan de 200 a 400 veces su tamaño inicial mediante la absorción de agua. Se realizó radiografía abdominal en proyección decúbito supino, donde llamó la atención el hallazgo de defecto de llenado redondeado en asa de flanco derecho, ya que las esferas de hidrogel son radiolúcidas. El diagnóstico se estableció mediante ultrasonido abdominal, donde se reportó líquido libre peritoneal con datos de suboclusión por cuerpos extraños a nivel intestinal. Se indicó tratamiento conservador, encontrando persistencia de aumento de perímetro abdominal. Se realizó enterotomía y se encontraron las esferas impactadas a 30 centímetros de la válvula ileocecal. CONCLUSIONES: Las esferas de hidrogel son peligrosas para la población pediátrica. La evolución de la paciente fue favorable debido al conocimiento del objeto extraño ingerido. Sobresale la conducta expectante que se tuvo que desempeñar debido a que se desconocía el crecimiento de las esferas y en qué momento no podrían continuar su paso por el tracto gastrointestinal.

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Objetivo: Evaluar el efecto de un programa de educación física adaptado utilizando la lengua de señas mexicana en niños con discapacidad auditiva sobre el desarrollo coordinativo motor. Materiales y métodos: El diseño del estudio fue cuasi experimental, con muestreo por conveniencia; participando 22 estudiantes (edad 10 ± 1.8 años), diagnosticados con discapacidad auditiva, de dos escuelas de la ciudad de Mexicali, Baja California (México). Los participantes fueron divididos aleatoriamente en un grupo experimental (n=11) y un grupo control (n=11), a los cuales se les evaluó el desarrollo coordinativo motor mediante el test de coordinación corporal para niños KTK. El programa de educación física tuvo una duración de 5 meses, adaptando una programación de clases 2 veces a la semana, con una duración de 50 minutos por sesión, comunicándose con los alumnos mediante la lengua de señas mexicana y una serie de tareas para resaltar la coordinación motora. Resultados: Para comparar las variables de estudio se utilizó el test de análisis de varianza (ANOVA) mixta 2 x 2, y se observó una interacción significativa entre grupo experimental y control, lo cual demostró una significancia positiva en el desarrollo coordinativo motor (p=0.01). Conclusión: La aplicación de un programa de educación física adaptado durante cinco meses puede influenciar una mejora en la coordinación motora en niños con discapacidad auditiva.

Objective: To evaluate the effect of an adapted physical education program using mexican sign language in children with hearing impairment on motor coordination. Materials and methods: The design of the study was quasi-experimental, with convenience sampling, involving twenty-two children with an average age of 10 ± 1.8 years, diagnosed with hearing impairment, from two schools of the city of Mexicali, Baja California. Mexico. The participants were randomly divided into an experimental group (n = 11) and a control group (n = 11). The motor coordination was evaluated using the KTK test (Kiphard Körperkoordinationstest für Kindergarten and Schiling, as per the German acronym), through the tests, balancing movements of backs, jumps on one foot, lateral jumps and transposition on a platform. This physical education program was achieved during 5 months, 2 times a week, 50 minutes per session and Mexican Sign Language was utilized and a series of tasks to emphasize motor coordination. Results: Analysis of Variance was applied in order to compare the study variable (ANOVA), mixed 2 x 2. A significant interaction between the two groups (experimental and control) was observed; showing a positive measuring significance in motor coordination (p=0.01). Conclusion: An adapted physical education program using the mexican sign language applied during 5 months can influence an improvement on motor coordination on hearing impaired children.

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Chagas disease, considered a neglected disease, was initially confined to rural localities in endemic areas; however, in recent years through the process of urbanization and migration of infected people, the disease is gaining importance in urban environments. The presence of the vector in urban areas in most cases is due to the passive transport of vectors, but recently, its presence seems to be linked to vector adaptation processes associated with climate change. This paper reports the occurrence of an infected triatomine in the peridomicile of a house in an urban area of Córdoba, Veracruz, Mexico, where the species found is described, the molecular characteristics and resistance to BZN and NFX of the Trypanosoma cruzi isolate obtained, as well as serological data of the dwelling inhabitants. These urban disease scenarios make it possible to generate new scientific knowledge and enable the creation of new control strategies for Chagas disease vectors.

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Resumen: La optimización del esfuerzo espontáneo en la ventilación mecánica tiene un lugar central en la Unidad de Cuidados Intensivos; aporta beneficios a los pacientes como la mejoría en el intercambio de gases, ayuda a recuperar la función del diafragma y el mantenimiento de los músculos periféricos. Por otro lado, también puede estar asociado al deterioro de la oxigenación y la lesión pulmonar. El incremento del impulso respiratorio neural aumenta el esfuerzo muscular inspiratorio, lo que condiciona presiones de distensión pulmonar lesivas, que en el contexto del síndrome de insuficiencia respiratoria aguda es de vital relevancia, ya que puede provocar el colapso y la sobredistensión regional alveolar de forma cíclica, con distribución heterogénea del estrés y tensión pulmonar. Existen tres mecanismos de lesión pulmonar por esfuerzo espontáneo: sobredistensión, aumento de la perfusión pulmonar y asincronía paciente-ventilador. La lesión pulmonar causa fuga capilar, edema pulmonar y alteración del intercambio de gases. Esto conduce a un aumento del impulso respiratorio y mayores volúmenes corrientes de las propias respiraciones espontáneas del paciente, que provocan fuga capilar y mayor daño pulmonar de forma similar a la lesión pulmonar inducida por ventilador.

Abstract: The optimization of spontaneous effort in mechanical ventilation has a central place in the intensive care unit; provides benefits to patients such as improved gas exchange, helps to regain function of the diaphragm and maintenance of peripheral muscles. On the other hand, it can also be associated with impaired oxygenation and lung injury. The increase in the neural respiratory drive increases the inspiratory muscular effort, conditioning damaging pulmonary distension pressures, which in the context of acute respiratory distress syndrome is of vital importance, since it can cause collapse and regional alveolar overdistention in a cyclical way. with heterogeneous distribution of pulmonary stress and strain. There are three mechanisms of lung injury due to spontaneous effort: overdistention, increased pulmonary perfusion, and patient-ventilator asynchrony. Lung injury causes capillary leakage, pulmonary edema, and impaired gas exchange. This leads to increased respiratory drive and higher tidal volumes of the patient's own spontaneous breaths, causing capillary leakage and increased lung damage like ventilator-induced lung injury.

Resumo: A otimização do esforço espontâneo na ventilação mecânica tem lugar central na unidade de terapia intensiva; Proporciona benefícios aos pacientes como melhora nas trocas gasosas, auxilia na recuperação da função do diafragma e na manutenção da musculatura periférica. Por outro lado, também pode estar associada ao deterioro da oxigenação e lesão pulmonar. O incremento do impulso respiratório neural aumenta o esforço muscular inspiratório, condicionando pressões de distensão pulmonar prejudiciais, o que no contexto da síndrome de insuficiência respiratória aguda é de vital relevância, pois pode causar colapso e hiperdistensão alveolar regional de forma cíclica, com distribuição heterogênea do estresse e tensão pulmonar. Existem três mecanismos de lesão pulmonar espontânea por esforço: hiperdistensão, aumento da perfusão pulmonar e assincronia paciente-ventilador. A lesão pulmonar causa vazamento capilar, edema pulmonar e troca gasosa prejudicada. Isso leva ao aumento do impulso respiratório e aos volumes correntes mais altos das próprias respirações espontâneas do paciente, causando vazamento capilar e danos pulmonares adicionais semelhantes aos danos pulmonares induzidos pelo ventilador.

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Resumen Introducción: La obstrucción intestinal por ingesta accidental de cuerpos extraños se presenta muy rara vez en la edad pediátrica debido a que del 80 al 90% de los objetos pueden pasar libremente por el tracto gastrointestinal. Caso clínico: Se aborda el caso de una paciente de sexo femenino de 1 año 2 meses quien presentó obstrucción intestinal debido a la ingesta de esferas de hidrogel (poliacrilato de sodio). Dichas esferas, que son utilizadas como juguetes didácticos o sensoriales, aumentan de 200 a 400 veces su tamaño inicial mediante la absorción de agua. Se realizó radiografía abdominal en proyección decúbito supino, donde llamó la atención el hallazgo de defecto de llenado redondeado en asa de flanco derecho, ya que las esferas de hidrogel son radiolúcidas. El diagnóstico se estableció mediante ultrasonido abdominal, donde se reportó líquido libre peritoneal con datos de suboclusión por cuerpos extraños a nivel intestinal. Se indicó tratamiento conservador, encontrando persistencia de aumento de perímetro abdominal. Se realizó enterotomía y se encontraron las esferas impactadas a 30 centímetros de la válvula ileocecal. Conclusiones: Las esferas de hidrogel son peligrosas para la población pediátrica. La evolución de la paciente fue favorable debido al conocimiento del objeto extraño ingerido. Sobresale la conducta expectante que se tuvo que desempeñar debido a que se desconocía el crecimiento de las esferas y en qué momento no podrían continuar su paso por el tracto gastrointestinal.

Abstract Background: Bowel obstruction due to accidental ingestion of foreign objects occurs rarely in children because 80 to 90% of the objects can pass freely through the gastrointestinal tract. Case report: We report a case of a 14-month-old infant who presented bowel obstruction caused by the ingestion of hydrogel beads (sodium polyacrylate). Hydrogel beads are used as sensory and didactic toys that can increase their initial size 200 to 400 times by liquid absorption. An abdominal X-ray was perfomed in anteroposterior supine projection, where a round filling defect at the loop of the right flank was detected; this came to our attention because hydrogel beads are usually radiolucent. The diagnosis was established by abdominal ultrasound where free intraperitoneal fluid was reported with data of small bowel pseudo-obstruction by foreign objects. Conservative treatment was prescribed, finding persistence of increased abdominal perimeter, so an enterotomy was performed for their removal; finding impacted hydrogel beads 30 centimeters from the ileocecal valve. Conclusions: Hydrogel beads are dangerous for the pediatric population. The evolution of the patient was favorable thanks to the knowledge of the foreign objects ingested. The expectant behavior that had to be executed, stands out because we had no knowledge as to the maximum size of the hydrogel in the gastrointestinal tract.

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Lynch syndrome (LS) is the main hereditary colorectal cancer syndrome. There have been few reports regarding the clinical and molecular characteristics of LS patients in Latin America; this is particularly true in the Mexican population, where no information is available. The present study aims to describe the clinical and molecular spectrum of variants in a cohort of patients diagnosed with LS in Mexico. We present a retrospective analysis of 412 patients with suspected LS, whose main site of cancer diagnosis was the colon (58.25%), followed by the endometrium (18.93%). Next-generation sequencing analysis, with an extensive multigene panel, showed that 27.1% (112/414) had a variant in one of the genes of the mismatch repair pathway (MMR); 30.4% (126/414) had a variant in non-MMR genes such as CHEK2, APC, MUTYH, BRCA1, and BRCA2; and 42.5% (176/414) had no genetic variants. Most of the variants were found in MLH1. Pathogenic variants (PVs) in MMR genes were identified in 65.7% (96/146) of the total PVs, and 34.24% (45/146) were in non-MMR genes. Molecular and clinical characterization of patients with LS in specific populations allowed personalized follow-up, with the option for targeted treatment with immune checkpoint inhibitors and the development of public health policies. Moreover, such characterization allows for family cascade testing and consequent prevention strategies.

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Resumen: Introducción: el retraso en el inicio de la nutrición enteral (NE), a diferencia de la NE precoz, está asociado a resultados adversos en los pacientes críticos. Objetivos: correlacionar el tiempo de inicio de la nutrición con la mortalidad, días de ventilación mecánica, estancia en la unidad de cuidados intensivos (UCI) y estancia hospitalaria. Material y métodos: se realizó un estudio tipo cohorte, retrospectivo, comparativo de los pacientes hospitalizados durante un periodo de enero a julio de 2022 en la Unidad de Cuidados Intensivos del Hospital Centro Médico ABC Campus Observatorio. Se incluyeron todos los pacientes ingresados que recibieron nutrición enteral. Resultados: de 242 pacientes, 62.8% son masculinos, con una mediana de edad de 65 (62.8-67.7) años, de los cuales 22% de la población requirió ventilación mecánica, encontrando una mortalidad global de 6.3%. Se observó diferencia significativa con p = 0.001, con un OR 0.210 (0.087-0.509) en la mortalidad de los pacientes con nutrición temprana 5.5 versus 13.2% nutrición tardía, sin diferencia en días de ventilación, estancia en la unidad de cuidados intensivos adultos (UCIA) ni hospitalización. Conclusiones: el retraso en la NE se asoció significativamente con menos días libres de UCI, estancia más prolongada en la UCI, hospitalizaciones más largas y mortalidad en comparación con la NE temprana.

Abstract: Introduction: the delay in the start of enteral nutrition (EN) or late EN, unlike early EN, is associated with adverse outcomes in critically ill patients. Objectives: to correlate the start time of nutrition with mortality, days of mechanical ventilation, Intensive Care Unit (ICU) and hospital length of stay. Material and methods: a retrospective, comparative, cohort study of hospitalized patients during the period from January to July 2022 in the ICU of the ABC Medical Center Observatory Campus was carried out. All hospitalized patients who received enteral nutrition were included. Results: of 242 patients, 62.8% were male, with a median age of 65 (62.8-67.7) years, 22% of the population required mechanical ventilation, finding an overall mortality of 6.3%. A significant difference was found with p = 0.001, with an OR 0.210 (0.087-0.509) in the mortality of patients with early nutrition 5.5 vs 13.2% late nutrition, without difference in days of mechanical ventilation, ICU or hospitalization length of stay. Conclusions: delayed EN was significantly associated with less ICU-free days, longer intrahospital length of stay and mortality, compared with early EN.

Resumo: Introdução: o atraso no início da nutrição enteral (NE) ou NE tardia, ao contrário da NE precoce, está associado a desfechos adversos em pacientes críticos. Objetivos: correlacionar o tempo de início da nutrição com mortalidade, dias de ventilação mecânica, internação na UTI e internação. Material e métodos: realizou-se um estudo de coorte, retrospectivo e comparativo de pacientes internados no período de janeiro a julho de 2022 na UTI do Hospital Centro Médico ABC Campus Observatorio. Todos os pacientes admitidos que receberam nutrição enteral foram incluídos. Resultados: dos 242 pacientes, 62.8% são do sexo masculino, com idade média de 65 (62.8-67.7) anos, dos quais 22% da população necessitou de ventilação mecânica, encontrando-se uma mortalidade geral de 6.3%. Uma diferença significativa foi encontrada com p = 0.001, com OR 0.210 (0.087-0.509) na mortalidade de pacientes com nutrição precoce 5.5 vs 13.2% nutrição tardia, sem diferença em dias de ventilação, permanência na UTI ou hospitalização. Conclusões: o atraso da NE foi significativamente associada a menos dias livres de UTI, estadias mais longas na UTI, internações mais longas e mortalidade, em comparação com NE precoce.