The Expression Profiles of lncRNAs Are Associated with Neoadjuvant Chemotherapy Resistance in Locally Advanced, Luminal B-Type Breast Cancer.

lncRNAs are noncoding transcripts with tissue and cancer specificity. Particularly, in breast cancer, lncRNAs exhibit subtype-specific expression; they are particularly upregulated in luminal tumors. However, no gene signature-based laboratory tests have been developed for luminal breast cancer identification or the differential diagnosis of luminal tumors, since no luminal A- or B-specific genes have been identified. Particularly, luminal B patients are of clinical interest, since they have the most variable response to neoadjuvant treatment; thus, it is necessary to develop diagnostic and predictive biomarkers for these patients to optimize treatment decision-making and improve treatment quality. In this study, we analyzed the lncRNA expression profiles of breast cancer cell lines and patient tumor samples from RNA-Seq data to identify an lncRNA signature specific for luminal phenotypes. We identified an lncRNA signature consisting of LINC01016, GATA3-AS1, MAPT-IT1, and DSCAM-AS1 that exhibits luminal subtype-specific expression; among these lncRNAs, GATA3-AS1 is associated with the presence of residual disease (Wilcoxon test, p < 0.05), which is related to neoadjuvant chemotherapy resistance in luminal B breast cancer patients. Furthermore, analysis of GATA3-AS1 expression using RNA in situ hybridization (RNA ISH) demonstrated that this lncRNA is detectable in histological slides. Similar to estrogen receptors and Ki67, both commonly detected biomarkers, GATA3-AS1 proves to be a suitable predictive biomarker for clinical application in breast cancer laboratory tests.

Radio-miRs: a comprehensive view of radioresistance-related microRNAs.

Radiotherapy is a key treatment option for a wide variety of human tumors, employed either alone or alongside with other therapeutic interventions. Radiotherapy uses high-energy particles to destroy tumor cells, blocking their ability to divide and proliferate. The effectiveness of radiotherapy is due to genetic and epigenetic factors that determine how tumor cells respond to ionizing radiation. These factors contribute to the establishment of resistance to radiotherapy, which increases the risk of poor clinical prognosis of patients. Although the mechanisms by which tumor cells induce radioresistance are unclear, evidence points out several contributing factors including the overexpression of DNA repair systems, increased levels of reactive oxygen species, alterations in the tumor microenvironment, and enrichment of cancer stem cell populations. In this context, dysregulation of microRNAs or miRNAs, critical regulators of gene expression, may influence how tumors respond to radiation. There is increasing evidence that miRNAs may act as sensitizers or enhancers of radioresistance, regulating key processes such as the DNA damage response and the cell death signaling pathway. Furthermore, expression and activity of miRNAs have shown informative value in overcoming radiotherapy and long-term radiotoxicity, revealing their potential as biomarkers. In this review, we will discuss the molecular mechanisms associated with the response to radiotherapy and highlight the central role of miRNAs in regulating the molecular mechanisms responsible for cellular radioresistance. We will also review radio-miRs, radiotherapy-related miRNAs, either as sensitizers or enhancers of radioresistance that hold promise as biomarkers or pharmacological targets to sensitize radioresistant cells.

A Molecular Characterization of the Allelic Expression of the BRCA1 Founder Δ9-12 Pathogenic Variant and Its Potential Clinical Relevance in Hereditary Cancer.

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.

An analysis of the association between breast density and body mass index with breast cancer molecular subtypes in early breast cancer: data from a Spanish population.

PURPOSE: Breast cancer is an important health problem, like obesity and dyslipidemia, with a strong association between body mass index (BMI) and breast cancer incidence and mortality. The risk of breast cancer is also high in women with high mammographic breast density (MBD). The purpose of this study was to analyze the association between BMI and MBD according to breast cancer molecular subtypes. METHODS: This transversal, descriptive, multicenter study was conducted at three Spanish breast cancer units from November 2019 to October 2020 in women with a recent diagnosis of early breast cancer. Data were collected at the time of diagnosis. RESULTS: The study included 162 women with a recent diagnosis of early breast cancer. The median age was 52 years and 49.1% were postmenopausal; 52% had normal weight, 32% overweight, and 16% obesity. There was no association between BMI and molecular subtype but, according to menopausal status, BMI was significantly higher in postmenopausal patients with luminal A (p = 0.011) and HER2-positive (p = 0.027) subtypes. There was no association between MBD and molecular subtype, but there were significant differences between BMI and MBD (p < 0.001), with lower BMI in patients with higher MBD. Patients with higher BMI had lower HDL-cholesterol (p < 0.001) and higher insulin (p < 0.001) levels, but there were no significant differences in total cholesterol or vitamin D. CONCLUSIONS: This study showed higher BMI in luminal A and HER2-positive postmenopausal patients, and higher BMI in patients with low MBD regardless of menopausal status.

Double Myelomeningocele Repair by Fetal Surgery with a Single Micro-Hysterotomy.

INTRODUCTION: Open spina bifida (OSB) is the most common congenital anomaly of the central nervous system. It is associated with severe neurodevelopmental delay, motor impairment, hydrocephalus, and bowel and bladder dysfunction. In selected cases, intrauterine spina bifida repair has been shown to improve neonatal outcomes. Rarely, the spine can have a double defect compromising two different segments and there is a lack of evidence on the feasibility and benefits of intrauterine repair in these cases. CASE PRESENTATION: We present a case with both cervicothoracic and lumbosacral myelomeningocele, Arnold-Chiari malformation type II and bilateral ventriculomegaly, that was treated successfully at 25 weeks with open micro-neurosurgery. Double myelomeningocele was successfully treated through a single 2-cm micro-hysterotomy, by performing external versions to sequentially expose and repair both defects. Weekly postoperative follow-up showed no progression of ventriculomegaly or complications attributable to the procedure. Preterm rupture of membranes prompted a conventional cesarean delivery at 32 weeks of gestation. Neurodevelopmental outcome at 20 months was within normal ranges, having achieved ambulation without orthopedic support and with no need for ventriculoperitoneal shunting. CONCLUSION: This report demonstrates for the first time the feasibility of double OSB repair through a single 2-cm micro-hysterotomy, suggesting that selected isolated cases of double myelomeningocele could be candidates for fetal intervention. Further prospective studies should be carried out to assess the potential benefit of double OSB intrauterine open repair.

Fetal Laryngoscopy and Endoscopic Tracheal Intubation to Avoid ex utero Intrapartum Treatment in the Management of Fetuses with Suspected Airway Obstruction.

INTRODUCTION: Large congenital neck tumors can cause neonatal death due to airway obstruction. The aim of this study was to report outcomes of the first cohort of fetuses with neck masses and suspected airway obstruction managed with fetal laryngoscopy (FL) and fetal endoscopic tracheal intubation (FETI) to secure fetal airways and avoid ex utero intrapartum treatment (EXIT) procedure. METHODS: A prospective observational cohort of consecutive fetuses with neck masses that were candidates for an EXIT procedure due to suspicion of laryngeal and/or tracheal occlusion on ultrasonographic (US) or magnetic resonance imaging (MRI) examination were recruited for FL in a tertiary referral center in Queretaro, Mexico. FETI was performed if the obstruction was confirmed by FL. Maternal and perinatal outcomes were evaluated. RESULTS: Between January 2012 and March 2023, 35 cases with neck masses were evaluated. Airway obstruction was suspected in 12/35 (34.3%), either by US in 10/35 (28.6%) or by fetal MRI in 2/35 (5.7%). In all cases, FL was successfully performed at the first attempt at a median gestational age (GA) of 36+5 (range, 33+5-39+6) weeks+days, with a median surgical time of 22.5 (12-35) min. In 4 cases, airway patency was confirmed during FL and an EXIT procedure was avoided. In 8/12 cases (66.7%), airway obstruction was confirmed during fetoscopy and FETI was successfully performed at a median GA of 36+3 (33+2-38+5) weeks+days, with a median surgical time of 25.0 (range, 12-45) min. No case required an EXIT procedure. All patients underwent conventional cesarean delivery with no maternal complications and all neonates were admitted to the neonatal intensive care unit with a correctly positioned endotracheal tube (ETT) immediately after delivery. Three neonatal deaths (37.5%) were reported due to postnatal unplanned extubation, failed ETT replacement, and tumoral bleeding. CONCLUSION: In fetuses with neck masses and suspected airway obstruction, FL and FETI are feasible and could replace EXIT procedures with good maternal and perinatal outcomes.

Management of Late Twin-to-Twin Transfusion Syndrome beyond 26 Weeks: Comparison between Fetoscopic Laser Therapy versus Traditional Management.

INTRODUCTION: A proportion of monochorionic diamniotic (MCDA) twin pregnancies complicated by twin-to-twin transfusion syndrome (TTTS) can present after 26 weeks of gestation. The aim of this study was to compare perinatal outcomes of late TTTS treated by fetoscopic laser coagulation versus traditional management with amniodrainage and/or emergency preterm cesarean delivery (CD). METHODS: Retrospective cohort from January 2012 to January 2023 of consecutive MCDA twin pregnancies complicated by TTTS after 26 weeks and evaluated in our referring centers. We analyzed perinatal outcomes of cases treated with fetoscopic laser surgery at our national referral fetal surgery center in Queretaro, Mexico, and compared them with those managed with traditional management (amniodrainage and/or emergency preterm CD). The primary outcome was survival at discharge and the secondary outcome was gestational age (GA) at birth. RESULTS: Among the study population, 46 TTTS cases were treated by fetoscopy at 27+6 (26+0-31+0) weeks+days and were compared with a group of 39 cases who underwent emergency preterm CD. In comparison to the group who underwent traditional management, the group treated by laser fetoscopy showed a significantly higher GA at birth (32+3 vs. 29+1 weeks+days, p < 0.001), lower frequency of preterm delivery below 37 weeks (91.3% vs. 100%, p = 0.06), 34 weeks (63.0% vs. 100%, p < 0.001), 32 weeks (50% vs. 74.4%, p = 0.02), or 30 weeks (28.3% vs. 53.8%, p = 0.01), and significantly higher perinatal survival (89.1% vs. 71.8%, p < 0.05 of at least one twin; and 65.2% vs. 38.5%, p = 0.01 of both twins, respectively). CONCLUSION: MCDA twins complicated with TTTS can be treated with fetoscopic laser surgery between 26 and 31 weeks of gestation, which is a feasible and safe option, and such cases are associated with a higher GA at birth and better perinatal survival than those managed with amniodrainage and/or emergency preterm CD.

Responsabilidad social universitaria en Latinoamérica: Revisión sistemática

Introducción : La responsabilidad social universitaria está presente en los discursos de los académicos, mas no logra permear en las acciones, que conlleven a la transformación de la universidad, por lo que es necesario un cambio de paradigma. En la actualidad, existen confusiones conceptuales que hacen muy difícil su promoción y práctica transformadora; en muchas universidades, se la confunde con proyección social, lo cual reduce su dimensión transversal. Objetivo : Analizar la evidencia científica relacionada con la responsabilidad social universitaria en Latinoamérica. Métodos : Revisión sistemática de la literatura; entre los meses de agosto a diciembre de 2021, se realizó la búsqueda de artículos en las bases de datos: Scopus, Scielo, Doaj, Lilacs Y Redalyc; se aplicó el uso de los descriptores en ciencias de la salud (DECS) y la combinación de los operadores booleanos OR y AND. Se consideraron textos completos en español, entre los años 2015 a 2021. Resultados : Se obtuvo 508 artículos, los cuales fueron sometidos a la metodología prisma y se seleccionaron 20 artículos, agrupados en cuatro categorías, según el manual de responsabilidad social del modelo ÚRSUla: gestión, formación, cognitivo, y participación social. Conclusión : La RSU es un compromiso moral irrenunciable, es importante en la gestión universitaria para promover el desarrollo sostenible, con ética y respeto de los derechos humanos, es necesario la participación de actores comprometidos y se debe considerar que, actualmente, tiene un enfoque asistencialista y reduccionista, escaso apoyo, socialización e implementación y falta unificar criterios en su conceptualización.

Introduction: University social responsibility is present in the discourses of academics, but it fails to permeate the actions that lead to the transformation of the university, requiring a paradigm shift. At present there are conceptual confusions that make its promotion and transformative practice very difficult, in many universities it is confused with social projection, which reduces its transversal dimension. Objective: To analyze the scientific evidence related to university social responsibility in latin america. Methods: Systematic review of the literature, between the months of August to December 2021; the search for articles was carried out in the databases: Scopus, Scielo, Doaj, Lilacs and Redalyc; the use of Descriptors in Health Sciences (DeCS) and the combination of the Boolean operators OR and AND were applied. Full texts in Spanish between the years 2015 and 2021 were considered. Results: 508 articles were obtained, which were submitted to the PRISMA methodology, selecting 20 articles, grouped into four categories according to the Social Responsibility Manual of the Úrsula Model: management, training, cognitive, and social participation. Conclusions: USR is an inalienable moral commitment, it is important in university management to promote sustainable development, with ethics and respect for human rights, the participation of committed actors is necessary, considering that it currently has a welfare and reductionist approach, scarce support, socialization and implementation and there is a need to unify criteria.

Flexible Video Fetoscopy: Feasibility and Outcomes of a Novel Modality for Laser Therapy in Twin-to-Twin Transfusion Syndrome Presenting with Inaccessible Anterior Placenta.

INTRODUCTION: Identification of intertwin anastomosis may be challenging during fetoscopy in cases with complete anterior placenta. The aim of this study was to describe the technique, feasibility, and outcomes of flexible video fetoscopy for laser coagulation in monochorionic (MC) twin pregnancies with twin-to-twin transfusion syndrome (TTTS) presenting with inaccessible anterior placenta. METHODS: From April 2021 to March 2022, a prospective cohort of consecutive MC twin pregnancies complicated with TTTS presenting with anterior placenta after 20 weeks was recruited. Cases with inaccessible anterior placenta during standard technique were converted into flexible video fetoscopy for completion of laser coagulation of placental anastomoses using a 270° flexible video endoscope through the same uterine port. Descriptive analysis includes feasibility, remaining anastomoses requiring laser photocoagulation, and perinatal outcomes. RESULTS: A total of 45 pregnancies with TTTS were treated with fetoscopic laser therapy during the 1-year study period. Twenty-one pregnancies presented with anterior placenta after 20 weeks, in which an inaccessible vascular equator was observed in 33.3% (7/21). Flexible video fetoscopy was successfully performed in all 7 cases at a median gestational age of 22+2 (20+0-27+1) weeks+days. Visualization of the entire placental surface, coagulation of selected vessels, and exploration of the entire vascular equator were achieved in all cases. Six cases (85.7%) required additional laser coagulation due to either vascular patency despite initial coagulation with conventional fetoscopy (1/6, 16.7%) and/or remaining noncoagulated anastomoses (5/6, 83.3%). Perinatal survival of at least one twin and both twins was achieved in 85.7% and 57.1%, respectively. DISCUSSION: Flexible video fetoscopy for completion of laser coagulation of placental anastomoses is feasible and represents a good option for TTTS cases presenting after 20 weeks with inaccessible anterior placenta.

A Pathogenic Variant Reclassified to the Pseudogene PMS2P1 in a Patient with Suspected Hereditary Cancer.

The PMS2 gene is involved in DNA repair by the mismatch repair pathway. Deficiencies in this mechanism have been associated with Lynch Syndrome (LS), which is characterized by a high risk for colorectal, endometrial, ovarian, breast, and other cancers. Germinal pathogenic variants of PMS2 are associated with up to 5% of all cases of LS. The prevalence is overestimated for the existence of multiple homologous pseudogenes. We report the case of a 44-year-old woman diagnosed with breast cancer at 34 years without a relevant cancer family history. The presence of pathogenic variant NM_000535.7:c.1A > T, (p.Met1Leu) in PMS2 was determined by next-generation sequencing analysis with a panel of 322 cancer-associated genes and confirmed by capillary sequencing in the patient. The variant was determined in six family members (brothers, sisters, and a son) and seven non-cancerous unrelated individuals. Analysis of the amplified region showed high homology of PMS2 with five of its pseudogenes. We determined that the variant is associated with the PMS2P1 pseudogene following sequence alignment analysis. We propose considering the variant c.1A > T, (p.Met1Leu) in PMS2 for reclassification as not hereditary cancer-related, given the impact on the diagnosis and treatment of cancer patients and families carrying this variant.

Deep DNA sequencing of MGMT, TP53 and AGT in Mexican astrocytoma patients identifies an excess of genetic variants in women and a predictive biomarker.

PURPOSE: Astrocytomas are a type of malignant brain tumor with an unfavorable clinical course. The impact of AGT and MGMT somatic variants in the prognosis of astrocytoma is unknown, and it is controversial for TP53. Moreover, there is a lack of knowledge regarding the molecular characteristics of astrocytomas in Mexican patients. METHODS: We studied 48 Mexican patients, men and women, with astrocytoma (discovery cohort). We performed DNA deep sequencing in tumor samples, targeting AGT, MGMT and TP53, and we studied MGMT gene promoter methylation status. Then we compared our findings to a cohort which included data from patients with astrocytoma from The Cancer Genome Atlas (validation cohort). RESULTS: In the discovery cohort, we found a higher number of somatic variants in AGT and MGMT than in the validation cohort (10.4% vs < 1%, p < 0.001), and, in both cohorts, we observed only women carried variants AGT variants. We also found that the presence of either MGMT variant or promoter methylation was associated to better survival and response to chemotherapy, and, in conjunction with TP53 variants, to progression-free survival. CONCLUSIONS: The occurrence of AGT variants only in women expands our knowledge about the molecular differences in astrocytoma between men and women. The increased prevalence of AGT and MGMT variants in the discovery cohort also points towards possible distinctions in the molecular landscape of astrocytoma among populations. Our findings warrant further study.

Transcriptomics and RNA-Based Therapeutics as Potential Approaches to Manage SARS-CoV-2 Infection.

SARS-CoV-2 is a coronavirus family member that appeared in China in December 2019 and caused the disease called COVID-19, which was declared a pandemic in 2020 by the World Health Organization. In recent months, great efforts have been made in the field of basic and clinical research to understand the biology and infection processes of SARS-CoV-2. In particular, transcriptome analysis has contributed to generating new knowledge of the viral sequences and intracellular signaling pathways that regulate the infection and pathogenesis of SARS-CoV-2, generating new information about its biology. Furthermore, transcriptomics approaches including spatial transcriptomics, single-cell transcriptomics and direct RNA sequencing have been used for clinical applications in monitoring, detection, diagnosis, and treatment to generate new clinical predictive models for SARS-CoV-2. Consequently, RNA-based therapeutics and their relationship with SARS-CoV-2 have emerged as promising strategies to battle the SARS-CoV-2 pandemic with the assistance of novel approaches such as CRISPR-CAS, ASOs, and siRNA systems. Lastly, we discuss the importance of precision public health in the management of patients infected with SARS-CoV-2 and establish that the fusion of transcriptomics, RNA-based therapeutics, and precision public health will allow a linkage for developing health systems that facilitate the acquisition of relevant clinical strategies for rapid decision making to assist in the management and treatment of the SARS-CoV-2-infected population to combat this global public health problem.

A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.

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.

Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder Mutation BRCA1-Del ex9-12.

Background: Ovarian cancer (OC) is gynecologic cancer with the highest mortality rate. It is estimated that 13-17% of ovarian cancers are due to heritable mutations in BRCA1 and BRCA2. The BRCA1 (BRCA1-Del ex9-12) Mexican founder mutation is responsible for 28-35% of the cases with ovarian cancer. The aim was to describe the PFS of OC patients treated with olaparib, emphasizing patients carrying the Mexican founder mutation (BRCA1-Del ex9-12). Methods: In this observational study, of 107 patients with BRCAm, 35 patients were treated with olaparib from November 2016 to May 2021 at the Ovarian Cancer Program (COE) of Mexico; patient information was extracted from electronic medical records. Results: Of 311 patients, 107 (34.4%) were with BRCAm; 71.9% (77/107) were with BRCA1, of which 27.3% (21/77) were with BRCA1-Del ex9-12, and 28.1% (30/107) were with BRCA2 mutations. Only 35 patients received olaparib treatment, and the median follow-up was 12.87 months. The PFS of BRCA1-Del ex9-12 was NR (non-reach); however, 73% of the patients received the treatment at 36 vs. 11.59 months (95% CI; 10.43-12.75) in patients with other BRCAm (p = 0.008). Almost 50% of patients required dose reduction due to toxicity; the most frequent adverse events were hematological in 76.5% and gastrointestinal in 4%. Conclusion: Mexican OC BRCA1-Del ex9-12 patients treated with olaparib had a significant increase in PFS regardless of the line of treatment compared to other mutations in BRCA.

Compromiso en el cuidado de enfermería / Commitment in Nursing Care

Introducción: La sobrecarga laboral, los recursos insuficientes y las condiciones precarias obligan a la enfermera brindar cuidados a la carrera en muchas ocasiones, debido a que debe distribuir su tiempo en las múltiples actividades del servicio. Promover el compromiso en las enfermeras implica un alto sentido de conexión física, cognitiva y emocional con la calidad del cuidado al paciente y contribuye con el logro de los objetivos institucionales. Objetivo: Analizar la evidencia científica relacionada con el compromiso en el cuidado de enfermería. Métodos: Revisión sistemática de la literatura entre los meses de julio a setiembre del 2020. Se realizó la búsqueda de artículos en las siguientes bases de datos: Wiley Online Library, Pubmed, DOAJ, SciELO, Eselvier, Sage Journals, Proquest y Lilacs; se aplicó el uso de los Descriptores en Ciencias de la Salud (DeCS), Descriptores MeSH y la combinación de los operadores booleanos OR y AND. Se consideraron textos completos en inglés, portugués y español entre los años del 2010 al 2020, los cuales fueron sometidos a la metodología PRISMA. Se seleccionaron 27 artículos. Conclusiones: El compromiso surge en la enfermera como resultado de varios factores, entre ellos la vocación, la autonomía, la confianza, el apoyo social, la edad, el entorno laboral, el tipo de horario y la reflexión crítica, estos influyen de forma positiva o negativa en el desempeño, la capacidad laboral, la satisfacción y, sobretodo, en la calidad de los cuidados que se brindan(AU)

Introduction: Work overload, insufficient resources and precarious conditions force the nurse to provide care in a hurry on many occasions, due to the fact that she or he must distribute their time among the multiple activities of the service. Promoting commitment among nurses implies a high sense of physical, cognitive and emotional connection with the quality of patient care and contribute to the achievement of institutional objectives. Objective: To analyze the scientific evidence related to commitment in nursing care. Methods: Systematic review of the literature from July to September 2020. Articles were searched in the following databases: Wiley Online Library, Pubmed, DOAJ, SciELO, Elsevier, Sage Journals, Proquest and Lilacs. Health Sciences Descriptors (DeCS) and Medical Subject Headings (MeSH), as well as the combination of the Boolean operators OR and, were used. Full texts published in English, Portuguese and Spanish between 2010 and 2020 were considered and processed using the Preferred Reporting Items for Systematic Review and Meta-Analyses methodology. Twenty-seven articles were selected. Conclusions: Commitment appears in the nurse as a result of several factors, including vocation, autonomy, confidence, social support, age, work environment, type of schedule, and critical reflection; these influence, positively or negatively, performance, work capacity, satisfaction and, above all, the quality of provided care(AU)

Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.

OBJECTIVE: Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). MATERIALS AND METHODS: The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed. RESULTS: Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. CONCLUSION: A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing.

Outcomes of late open fetal surgery for intrauterine spina bifida repair after 26 weeks. Should we extend the Management of Myelomeningocele Study time window?

OBJECTIVE: To evaluate maternal and perinatal outcomes of late open fetal repair for open spina bifida (OSB) between 26+0 -27+6  weeks. METHODS: A cohort of fetuses with OSB who underwent open surgery in two fetal surgery centers (Argentina and Mexico). Two groups were defined based on the gestational age (GA) at intervention: Management of Myelomeningocele Study (MOMS) time window group: GA 19+0 -25+6 , and late intervention group: GA 26+0 -27+6 . RESULTS: Intrauterine OSB repair was successfully performed in 140 cases, either before (n = 57) or after (n = 83) 26 weeks, at on average 25+0 (22+6 -25+6 ) and 26+5 (26+0 -27+6 ) weeks + days, respectively. There were no significant differences in the rate of premature rupture of membranes, chorioamnionitis, oligohydramnios, preterm delivery, perinatal death and maternal complications. The late intervention group showed a significantly lower surgical times (112.6 vs. 124.2 min, p = 0.01), lower interval between fetal surgery and delivery (7.9 vs. 9.2 weeks, p < 0.01) and similar rate of hydrocephalus requiring treatment (30.6% vs. 23.3%, p = 0.44) than the MOMS time window group. CONCLUSION: Late fetal surgery for OSB repair between 26+0 -27+6  weeks is feasible and was associated with similar outcomes than that performed before 26 weeks. These findings may allow an extension of the proposed time window for cases with late diagnosis or referral.

Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer / Variantes patóge nas de línea germinal en mexicanas con cáncer de mama triple negativo hereditario

Abstract: Objective: Describe the prevalence of breast cancer (BC)-associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC). Materials and methods: The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed. Results: Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. Conclusion: A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing.

Resumen: Objetivo: Describir la prevalencia de variantes patógenas (VPs) germinales en genes asociados con cáncer de mama (CM) en pacientes mexicanos con CM triple negativo (CMTN). Material y métodos: Se analizó el espectro de VPs identificadas en pacientes con CMTN que fueron incluidos prospectivamente en un registro y se realizó un estudio genético. Resultados: Se analizó un total de 387 pacientes con una mediana de edad al diagnóstico de 39 años; 113 (29%) eran portadores de VPs en genes de susceptibilidad a CM: BRCA1 (79%), BRCA2(15%), y otros (6%: ATM, BRIP1, PALB2, PTEN, RAD51C y TP53). Los portadores de VPs eran más jóvenes al diagnóstico de CM (37 vs. 40 años, p=0.004). Conclusiones: Existe una alta prevalencia de VPs en pacientes mexicanos con CMTN y la mayoría se encuentra en genes BRCA. La realización de pruebas genéticas se puede optimizar mediante la adopción de un proceso escalonado para la detección de VPs.

Molecular changes in adipocyte-derived stem cells during their interplay with cervical cancer cells.

PURPOSE: Obesity is as an important risk factor and has been associated with a worse prognosis in at least 13 distinct tumor types. This is partially due to intercellular communication between tumor cells and adipose tissue-derived stem cells (ADSCs), which are increased in obese individuals. As yet, however, little is known about the molecular changes occurring in ADSCs in these conditions. Cervical cancer has a high incidence and mortality rate in women from developing countries, particularly in those with a high body mass index (BMI). METHODS: We analyzed the expression profile of ADSCs co-cultured with cervical cancer cells through massive RNA sequencing followed by evaluation of various functional alterations resulting from the modified transcriptome. RESULTS: A total of 761 coding and non-coding dysregulated RNAs were identified in ADSCs after co-culture with HeLa cells (validation in CaSki and SiHA cells). Subsequent network analysis showed that these changes were correlated with migration, stemness, DNA repair and cytokine production. Functional experiments revealed a larger ALDHhigh subpopulation and a higher migrative capacity of ADSCs after co-culture with HeLa cells. Interestingly, CXCL3 and its intragenic long-noncoding RNA, lnc-CXCL3, were found to be co-regulated during co-culture. A loss-of-function assay revealed that lnc-CXCL3 acts as a key regulator of CXCL3 expression. CONCLUSIONS: Our results suggest that intercellular communication between ADSCs and cervical cancer cells modifies the RNA expression profile in the former, including that of lncRNAs, which in turn can regulate the expression of diverse chemokines that favor malignancy-associated capacities such as migration.

Impact of fetal endoscopic tracheal occlusion in fetuses with congenital diaphragmatic hernia and moderate lung hypoplasia.

OBJECTIVE: To assess the effect of Fetal Endoscopic Tracheal Occlusion (FETO) on neonatal survival in fetuses with left congenital diaphragmatic hernia (CDH) and moderate lung hypoplasia. STUDY DESIGN: CDH fetuses with moderate pulmonary hypoplasia (observed/expected lung area to head ratio between 26% and 35%, or between 36% and 45% with liver herniation) were prospectively recruited. Included patients were matched to a control group who were ineligible for FETO. Primary outcomes were survival at 28 days, at discharge, and at 6 months of age, respectively. RESULTS: 58 cases were recruited, 29 treated with FETO and 29 matched controls. Median gestational age (GA) at balloon placement and removal were 29.6 and 33.6 weeks, respectively. FETO group showed significantly lower GA at delivery (35.2 vs. 37.1 weeks, respectively, p < 0.01), higher survival at 28 days (51.7 vs. 24.1%, respectively, p = 0.03), at discharge (48.3 vs. 24.1%, respectively, p = 0.06), and at six months of age (41.4 vs. 24.1%, respectively, p = 0.16), and significantly lower length of ventilatory support (17.8 vs. 32.3 days, p = 0.01) and NICU stay (34.2 vs. 58.3 days, p = <0.01) compared to controls. CONCLUSION: FETO was associated with a non-significant increase in survival and significantly lower neonatal respiratory morbidity among CDH fetuses with moderate lung hypoplasia.