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OBJECTIVES: To assess the efficacy and safety of simple open versus laparoscopic nephrectomies for treating benign renal pathologies, with a focus on comparing the prevalence of surgical complications at a first-level center in Mexico City. METHODS: A retrospective analysis spanning 2010-2020 was conducted where all patients undergoing simple nephrectomy for benign conditions were included and stratified into open and laparoscopic surgery groups. Variables analyzed included urological history, laboratory findings, surgical outcomes, complications, and histopathological results. Statistical comparisons employed Student's t-test for means and the chi-square test for frequencies. Additionally, binary logistic regression was utilized to identify predictors associated with conversion from laparoscopic to open surgery. RESULTS: The laparoscopic approach showed significant advantages in intraoperative bleeding (p=0.008) and intensive care unit stay (p=0.04). The conversion rate from laparoscopic to open surgery was 19.23%, with no significant risk factors identified for conversion. CONCLUSIONS: Laparoscopic simple nephrectomy proves to be a secure and effective method in specialized urological centers with skilled surgeons, offering superior intraoperative outcomes compared to open surgery. It effectively reduces intraoperative hemorrhage, minimizes blood transfusion needs, and shortens hospital stays. Nonetheless, challenges such as equipment availability, costs, and surgeon expertise must be addressed. Further research focused on postoperative complications is crucial to advocate for broader adoption of laparoscopic nephrectomy as the preferred standard for treating relevant urological conditions, emphasizing substantial advantages over traditional open approaches.
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Osteoporosis weakens the structural strength of bone to such an extent that normal daily activity may exceed the capacity of the vertebra to bear this load. Vertebral fracture and deformity is a hallmark of osteoporosis. The detriment of trabecular bone properties alone cannot explain the occurrence of osteoporotic vertebral fracture. The ability of the spine to bear and resist loads depends on the structural capacity of the vertebrae, but also on loading conditions arising from activities of daily living or low-energy trauma. This review describes the mechanical properties of the vertebral bone, the structural load-bearing capacity of the various elements forming the spine, the neuromuscular control of the trunk, as well as the biomechanics of the loads to which the spine is subjected in relation to the presence of osteoporosis and the risk of vertebral fracture. A better understanding of biomechanical factors may help to explain both the high incidence of osteoporotic vertebral fractures and their mechanism of production. Consideration of these issues may be important in the development of prevention and management strategies.
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BACKGROUND: Alopecia areata (AA) is an autoimmune disease characterized by non-scaring hair loss and preservation of hair follicles. The information available on disease course, and clinical features of AA is scarce worldwide, and almost nonexistent in Colombia. OBJECTIVE: To determine the clinical and sociodemographic characteristics of patients diagnosed with AA who presented to a dermatology consultation in five Colombian cities. MATERIAL AND METHODS: This was a retrospective and multicenter study on data from an ongoing National Registry of Alopecia Areata in Colombia (RENAAC) collected in Bogota, Cali, Cartagena, Barranquilla, and Medellin, Colombia from March 2022 through April 2023. Data was recorded in a standardized form by trained physicians. The variables were expressed as measures of central tendency and dispersion, and absolute and relative frequencies. RESULTS: A total of 562 patients were included, 59.4% of whom were women, aged between 15 and 49 years (63.9%) with a mean disease course of 1.7 years. The most common finding was multiple plaque (53.2%), the predominant AA subtype was patchy (71.4%), and 29.5% of the patients had a past dermatological history, 18.3% had a past endocrinological history, and 8.9% had a past psychiatric history. The treatments most widely used were steroid injections (76.4%), 5% topical minoxidil (46.4%), followed by high-potency corticosteroids (42.5%). STUDY LIMITATIONS AND CONCLUSIONS: AA was slightly predominant in women. As seen in other populations, this disease had an earlier onset in men vs women. Presentation in pediatric age was uncommon. The previous history of other dermatological diseases was checked in almost one third of the patients. Analysis of the co-presentation of AA with other autoimmune diseases is biased due to excluding patients with systemic erythematous lupus from the study.
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Alopecia Areata , Sistema de Registros , Humanos , Alopecia Areata/epidemiología , Colombia/epidemiología , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven , Niño , Preescolar , Factores Sociodemográficos , Salud Urbana/estadística & datos numéricos , LactanteRESUMEN
AIMS: To design a strategic framework for the policy and activity of the Spanish Society of Internal Medicine (SEMI). METHODS: Expert consensus. Participation through expert committees and consultation of internists on the proposed strategic lines. RESULTS: The SEMI's motto was changed to "comprehensive care for patients." Seven strategic lines were defined: Contribute to the transformation of the health system; participate in university teaching; guarantee comprehensive healthcare for patients; provide internal medicine residents and internists with the skills to practice in 21st century healthcare; promote research and the generation of scientific evidence in internal medicine; incorporate technological innovation and digital tools; position the SEMI as a model institution for healthcare policy. CONCLUSIONS: SEMI seeks to be a key player in the transformation of the Spanish healthcare system.
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Medicina Interna , Atención Dirigida al Paciente , Sociedades Médicas , España , Atención Dirigida al Paciente/organización & administración , Humanos , Atención a la Salud/organización & administración , Política de Salud , Atención Integral de Salud/organización & administraciónRESUMEN
Patients with non-muscle-invasive bladder cancer (NMIBC) in the intermediate and high-risk groups must receive adjuvant treatment with intravesical Bacillus Calmette-Guérin (BCG) following transurethral resection (TUR), as it reduces the risk of recurrence and presumably the risk of progression as well. Optimization of BCG efficacy is achieved by administering maintenance therapy. However, since many immunological aspects of the mechanism of action of BCG in the bladder remain unknown, the implementation of the optimal dose, number of instillations, strains and adequate maintenance regimen over the last decades has been heterogeneous. Additionally, this has hindered the interpretation of efficacy in terms of oncologic outcomes. This, together with the shortages of BCG in recent years, have forced scientific societies to adapt their clinical practice guidelines and modify their protocols of adjuvant treatment with BCG. This includes changes to strains, doses, and maintenance during this period of time. This consensus document evaluates the current status of adjuvant BCG treatment and the implications of BCG supply availability in the treatment of patients with NMIBC. It also addresses the implementation of novel therapies that will improve cancer prognosis and the quality of life of patients with NMIBC in the future.
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Neotropical seasonal dry forest (NSDF) is one of the most threatened ecosystems according to global climate change predictions. Nonetheless, few studies have evaluated the global climate change impacts on diversity patterns of NSDF plants. The lack of whole biome-scale approaches restricts our understanding of global climate change consequences in the high beta-diverse NSDF. We analysed the impact of global climate change on species distribution ranges, species richness, and assemblage composition (beta diversity) for 1,178 NSDF species. We used five representative plant families (in terms of abundance, dominance, and endemism) within the NSDF: Cactaceae, Capparaceae, Fabaceae, Malvaceae, and Zygophyllaceae. We reconstructed potential species distributions in the present and future (2040-2080), considering an intermediate Shared Socioeconomic Pathway and two dispersal ability assumptions on the taxa. Using a resource use scores index, we related climate-induced range contractions with species' water stress tolerance. Even under a favourable dispersal scenario, species distribution and richness showed future significant declines across those sites where mean temperature and precipitation seasonality are expected to increase. Further, changes in species range distribution in the future correlated positively with potential use of resources in Fabaceae. Results suggest that biotic heterogenization will likely be the short-term outcome at biome scale under dispersal limitations. Nonetheless, by 2080, the prevailing effect under both dispersal assumptions will be homogenization, even within floristic nuclei. This information is critical for further defining new areas worth protecting and future planning of mitigation actions for both species and the whole biome.
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Advanced splenic flexure tumors are uncommon and have a higher risk of relapse. To ensure that the resection includes the entire area of lymphatic drainage with a complete mesocolic excision (CME), a left extended colectomy is needed. In peritoneal carcinomatosis, there is often extensive involvement of the sigma and splenic flexure of the colon. In many instances, total colectomies are chosen for these patients, even when a significant portion of the colon could be preserved. The potential impact on quality of life after splenic flexure colon resection is discussed, as well as the importance of anatomical knowledge and expertise in performing this type of surgery. Overall, this work presents a modified technique that aims to improve the outcomes and quality of life for patients with splenic flexure colon cancer. Creating a tension-free anastomosis after extended left-sided colorectal resection is challenging. There is a negative impact on quality of life when an ileorectal anastomosis is created. The colorectal anastomosis performed after modified Rosi-Cahill or Deloyers' technique allows reduced small bowel bacterial overgrowth, achieves better water and sodium absorption, and altogether permits improved stool consistency. There are potential advantages of the Rosi-Cahill technique over other popular options such as Deloyers' procedure as there is no torsion of the ileocolic vessels and no mesenteric windows. A video was recorded showing a potential pitfall during Deloyers' technique resulting in the creation of a mesenteric window. The proper rotation of the colon during the modified Rosi-Cahill procedure was also filmed. Overall, this work presents a modified technique for reconstruction after left extended colectomy that aims to improve the outcomes and quality of life for patients with splenic flexure colon cancer.
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Anastomosis Quirúrgica , Colectomía , Colon Transverso , Neoplasias del Colon , Calidad de Vida , Humanos , Colectomía/métodos , Colon Transverso/cirugía , Anastomosis Quirúrgica/métodos , Neoplasias del Colon/cirugía , Mesocolon/cirugíaRESUMEN
OBJECTIVE: Sarcopenia is a condition characterized by muscle mass loss. Skeletal muscle is capable of producing and secreting different molecules called myokines, and apelin is one of them. The literature contains contradictory data on the relationship between apelin and sarcopenia. We decided to investigate the role of apelin in sarcopenia in subjects with disease-related malnutrition (DRM), a group of patients with a high rate of sarcopenia. PATIENTS AND METHODS: 83 elderly patients with DRM assessed according to the Global Leadership Initiative on Malnutrition (GLIM) criteria were included in the study, with a mean age of 69.9±3.8 years. Anthropometric data, muscle mass by ultrasound at the rectus femoris quadriceps (RFQ) level, bioimpedance [skeletal muscle mass (SMM), appendicular SMM (aSMM) and aSMM index (aSMMI)], dynamometry, biochemical parameters, dietary intake, circulating apelin levels were determined in all patients. RESULTS: a total of 33 patients (37.9%) were diagnosed with sarcopenia, while 54 patients did not present sarcopenia (60.1%). Body weight (-5.5±2.0 kg, p=0.01), calf circumference (-1.9±0.2 cm, p=0.02), phase angle (-0.6±0.2º, p=0.01), reactance (-6.8±2.3 Ohms, p=0.03), resistance (-38.8±12.3 Ohms, p=0.04), SMM (-2.2±0.3 kg, p=0.04), aSMM (-2.2±0.2 kg, p=0.03) and aSMMI (-0.6±0.2 kg, p=0.02), dominant muscle area (-0.6±0.2 cm2, p=0.04), dominant Y axis (-0.4±0.1 cm, p=0.03), dominant X/Y axis (1.1±0.3 cm, p=0.04), strength (-5.1±1.3 kg, p=0.01), albumin (-0.9±0.1 g/dl, p=0.02) and prealbumin (-4.6±0.7 mg/dl, p=0.02) were worse in patients with sarcopenia than non-sarcopenic patients. Circulating apelin levels were similar in both groups. No significant correlation of apelin levels was detected, either with bioimpedance data or with muscle ultrasonography data. The multivariant analysis did not detect a significant association of apelin with the presence of sarcopenia. CONCLUSIONS: Our study shows a lack of association between apelin and sarcopenia in elderly malnourished patients.
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Apelina , Desnutrición , Sarcopenia , Humanos , Sarcopenia/sangre , Apelina/sangre , Anciano , Desnutrición/sangre , Masculino , Femenino , Músculo Esquelético/metabolismo , Músculo Esquelético/diagnóstico por imagenRESUMEN
We present the design of an on-chip integrated photon pair source based on Spontaneous Four Wave Mixing (SFWM), implemented on a ring resonator in the 4H Silicon Carbide On Insulator (4H-SiCOI) platform, compatible with a solid state quantum memory in the telecommunications band. Through careful engineering of the waveguide dispersion and micro-ring resonator dimensions, we found solutions where the signal photons are emitted at 1536.48 nm with a bandwidth of â¼ 150 MHz, enabling the interaction with the hyperfine structure of Er 3 + ions. Simultaneously, the idler photons are generated at 1563.86 nm, matching the central wavelength of a specific channel in a commercial dense wavelength division multiplexing system. The proposed device fulfill all the spectral requirements in a simple ring-bus coupled waveguide configuration with design parameters within the range of reported values for similar resonators, making feasible its manufacturing with current fabrication capabilities.
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Human cell line models, including the neuronal precursor line LUHMES, are important for investigating developmental transcriptional dynamics within imprinted regions, particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus. AS results from loss of maternal UBE3A in neurons, where the paternal allele is silenced by a convergent antisense transcript UBE3A-ATS, a lncRNA that terminates at PWAR1 in non-neurons. qRT-PCR analysis confirmed the exclusive and progressive increase in UBE3A-ATS in differentiating LUHMES neurons, validating their use for studying UBE3A silencing. Genome-wide transcriptome analyses revealed changes to 11 834 genes during neuronal differentiation, including the upregulation of most genes within the 15q11-q13 locus. To identify dynamic changes in chromatin loops linked to transcriptional activity, we performed a HiChIP validated by 4C, which identified two neuron-specific CTCF loops between MAGEL2-SNRPN and PWAR1-UBE3A. To determine if allele-specific differentially methylated regions (DMR) may be associated with CTCF loop anchors, whole genome long-read nanopore sequencing was performed. We identified a paternally hypomethylated DMR near the SNRPN upstream loop anchor exclusive to neurons and a paternally hypermethylated DMR near the PWAR1 CTCF anchor exclusive to undifferentiated cells, consistent with increases in neuronal transcription. Additionally, DMRs near CTCF loop anchors were observed in both cell types, indicative of allele-specific differences in chromatin loops regulating imprinted transcription. These results provide an integrated view of the 15q11-q13 epigenetic landscape during LUHMES neuronal differentiation, underscoring the complex interplay of transcription, chromatin looping, and DNA methylation. They also provide insights for future therapeutic approaches for AS and PWS.
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Factor de Unión a CCCTC , Diferenciación Celular , Cromosomas Humanos Par 15 , Metilación de ADN , Impresión Genómica , Neuronas , Transcriptoma , Ubiquitina-Proteína Ligasas , Humanos , Impresión Genómica/genética , Factor de Unión a CCCTC/metabolismo , Factor de Unión a CCCTC/genética , Cromosomas Humanos Par 15/genética , Neuronas/metabolismo , Metilación de ADN/genética , Transcriptoma/genética , Ubiquitina-Proteína Ligasas/genética , Ubiquitina-Proteína Ligasas/metabolismo , Diferenciación Celular/genética , Síndrome de Angelman/genética , Síndrome de Angelman/patología , ARN Largo no Codificante/genética , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/patología , Síndrome de Prader-Willi/metabolismo , Proteínas Nucleares snRNP/genética , Proteínas Nucleares snRNP/metabolismo , Alelos , Línea Celular , EpigenomaRESUMEN
Osteoporosis weakens the structural strength of bone to such an extent that normal daily activity may exceed the capacity of the vertebra to bear this load. Vertebral fracture and deformity is a hallmark of osteoporosis. The detriment of trabecular bone properties alone cannot explain the occurrence of osteoporotic vertebral fracture. The ability of the spine to bear and resist loads depends on the structural capacity of the vertebrae, but also on loading conditions arising from activities of daily living or low-energy trauma. This review describes the mechanical properties of the vertebral bone, the structural load-bearing capacity of the various elements forming the spine, the neuromuscular control of the trunk, as well as the biomechanics of the loads to which the spine is subjected in relation to the presence of osteoporosis and the risk of vertebral fracture. A better understanding of biomechanical factors may help to explain both the high incidence of osteoporotic vertebral fractures and their mechanism of production. Consideration of these issues may be important in the development of prevention and management strategies.
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BACKGROUND: Invasive Mechanical Ventilation (IMV) in Intensive Care Units (ICU) significantly increases the risk of Ventilator-Induced Lung Injury (VILI), necessitating careful management of mechanical power (MP). This study aims to develop a real-time predictive model of MP utilizing Artificial Intelligence to mitigate VILI. METHODOLOGY: A retrospective observational study was conducted, extracting patient data from Clinical Information Systems from 2018 to 2022. Patients over 18 years old with more than 6 h of IMV were selected. Continuous data on IMV variables, laboratory data, monitoring, procedures, demographic data, type of admission, reason for admission, and APACHE II at admission were extracted. The variables with the highest correlation to MP were used for prediction and IMV data was grouped in 15-minute intervals using the mean. A mixed neural network model was developed to forecast MP 15 min in advance, using IMV data from 6 h before the prediction and current patient status. The model's ability to predict future MP was analyzed and compared to a baseline model predicting the future value of MP as equal to the current value. RESULTS: The cohort consisted of 1967 patients after applying inclusion criteria, with a median age of 63 years and 66.9 % male. The deep learning model achieved a mean squared error of 2.79 in the test set, indicating a 20 % improvement over the baseline model. It demonstrated high accuracy (94 %) in predicting whether MP would exceed a critical threshold of 18 J/min, which correlates with increased mortality. The integration of this model into a web platform allows clinicians real-time access to MP predictions, facilitating timely adjustments to ventilation settings. CONCLUSIONS: The study successfully developed and integrated in clinical practice a predictive model for MP. This model will assist clinicians allowing for the adjustment of ventilatory parameters before lung damage occurs.
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Unidades de Cuidados Intensivos , Respiración Artificial , Lesión Pulmonar Inducida por Ventilación Mecánica , Humanos , Masculino , Persona de Mediana Edad , Femenino , Estudios Retrospectivos , Anciano , Lesión Pulmonar Inducida por Ventilación Mecánica/prevención & control , Redes Neurales de la Computación , Cuidados CríticosRESUMEN
The electromagnetic form factors of the proton and neutron encode information on the spatial structure of their charge and magnetization distributions. While measurements of the proton are relatively straightforward, the lack of a free neutron target makes measurements of the neutron's electromagnetic structure more challenging and more sensitive to experimental or model-dependent uncertainties. Various experiments have attempted to extract the neutron form factors from scattering from the neutron in deuterium, with different techniques providing different, and sometimes large, systematic uncertainties. We present results from a novel measurement of the neutron magnetic form factor using quasielastic scattering from the mirror nuclei ^{3}H and ^{3}He, where the nuclear effects are larger than for deuterium but expected to largely cancel in the cross-section ratios. We extracted values of the neutron magnetic form factor for low-to-modest momentum transfer, 0.6
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INTRODUCTION: KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia with predominant cervical, cranial, and laryngeal involvement. So far, fewer than 100 variants have been reported, the vast majority being de novo mutations. The presenting frame of KMT2B dystonia, with dysmorphology features and other complex neurologic symptoms shows the spectrum of KMT2B dystonia as a probable syndromic disease, rather than an isolated early-onset dystonia, which has been the classic view of the condition. CASE REPORTS: We report three patients who presented regression in their neurodevelopment, focal dystonia of the lower limbs with subsequent generalization, in whom two de novo variants were reported in the KMT2B gene, with a mean age of presentation lower than the average reported worldwide. CONCLUSIONS: We describe the largest local series of patients with KMT2B dystonia in Colombia (to our knowledge), which allows us to expand the genotype-phenotype relationship of this genetic dystonia. Although many affected individuals follow a similar disease course, it is important to determine clinical features that may be associated such as neurodevelopmental regression.
TITLE: Espectro fenotípico y genotípico de la distonía causada por el gen KMT2B. Descripción de tres casos colombianos.Introducción. La distonía relacionada con KMT2B es un trastorno del movimiento hipercinético, de inicio en la infancia, caracterizado inicialmente por distonía focal de las extremidades inferiores que progresa a una distonía generalizada con mayor afectación cervical, craneal y laríngea. Hasta el momento se han descrito aproximadamente 100 variantes causantes de enfermedad, y la mayoría son de novo. La presentación clínica de la distonía con hallazgos fenotípicos comunes en los pacientes, asociada a frecuente afectación del neurodesarrollo, afectación intelectual y otros trastornos del movimiento, hace pensar más en el espectro KMT2B como una condición sindrómica, más que en una distonía aislada de inicio temprano, como clásicamente se ha clasificado. Casos clínicos. Se presenta el caso de tres pacientes con regresión del neurodesarrollo, distonía focal de los miembros inferiores con posterior generalización, en quienes se identificaron tres variantes en el gen KMT2B, en dos de los casos de novo (en una de ellas se desconoce la segregación), y dos de ellas comunicadas por primera vez en la bibliografía. La edad media de presentación fue menor a la edad promedio notificada a nivel mundial. Conclusiones. Describimos una serie de pacientes colombianos con distonía DYT-KMT2B (la más grande en nuestro conocimiento a nivel local), lo que nos permite ampliar la relación genotipo-fenotipo de esta distonía genética. Si bien múltiples individuos afectados siguen un curso de enfermedad similar, es importante determinar las características clínicas que pueden estar asociadas, como la regresión del neurodesarrollo y su potencial clasificación como distonía compleja. Describimos, además, dos nuevas variantes asociadas al fenotipo.
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Trastornos Distónicos , N-Metiltransferasa de Histona-Lisina , Fenotipo , Adolescente , Niño , Femenino , Humanos , Masculino , Colombia , Trastornos Distónicos/genética , Genotipo , N-Metiltransferasa de Histona-Lisina/genética , MutaciónRESUMEN
In this study, two different approaches based on taxonomic assemblages and on copepod functional groups were used to investigate the mesozooplankton assemblage structure and its relationship with environmental variables in the main estuaries of the Gulf of Cádiz (Guadalquivir, Guadiana and Tinto-Odiel) during the dry-warm season. In general, the mesozooplankton assemblages were dominated by copepods, especially the calanoid Acartia tonsa, which reached its highest abundance in the inner zones while the adjacent coastal zones were characterized by a mixture of copepods and cladocerans, especially Penilia avirostris. Regarding the trait-based approach, three copepod functional groups were identified, principally sorted by their feeding strategy. Group 1 (composed of omnivorous copepods displaying a mixed feeding strategy and broadcast-spawners) was found mainly in the inner areas, while Groups 2 (omnivorous cyclopoids, sac-spawners that feed via active ambush) and 3 (herbivores-omnivores employing a filter feeding strategy and mostly broadcast-spawners) were predominant in the adjacent coastal zones. The relative abundance of copepod functional groups suggested that Group 1 could be considered the most important contributor to secondary production in the estuarine systems of the Gulf of Cádiz. In relation to environmental factors, salinity was the most influential variable on mesozooplankton assemblages in both approaches. Our results suggest that the studied estuaries, although taxonomically different, have mesozooplankton assemblages that perform similar ecological functions. Both methods provide valuable and complementary information about mesozooplankton assemblage dynamics in the main estuaries of the Gulf of Cádiz.
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Copépodos , Estuarios , Zooplancton , Animales , Copépodos/fisiología , Zooplancton/fisiología , Monitoreo del Ambiente , Biodiversidad , Salinidad , Estaciones del AñoRESUMEN
INTRODUCTION: Crohn's disease (CD) is a subtype of chronic and incurable inflammatory bowel disease. It can affect the entire gastrointestinal tract and its etiology is unknown. OBJECTIVE: The aim of this consensus was to establish the most relevant aspects related to definitions, diagnosis, follow-up, medical treatment, and surgical treatment of Crohn's disease in Mexico. MATERIAL AND METHODS: Mexican specialists in the areas of gastroenterology and inflammatory bowel disease were summoned. The consensus was divided into five modules, with 69 statements. Applying the Delphi panel method, the pre-meeting questions were sent to the participants, to be edited and weighted. At the face-to-face meeting, all the selected articles were shown, underlining their level of clinical evidence; all the statements were discussed, and a final vote was carried out, determining the percentage of agreement for each statement. RESULTS: The first Mexican consensus on Crohn's disease was produced, in which recommendations for definitions, classifications, diagnostic aspects, follow-up, medical treatment, and surgical treatment were established. CONCLUSIONS: Updated recommendations are provided that focus on definitions, classifications, diagnostic criteria, follow-up, and guidelines for conventional medical treatment, biologic therapy, and small molecule treatment, as well as surgical management.
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Enfermedad de Crohn , Enfermedad de Crohn/terapia , Enfermedad de Crohn/diagnóstico , Humanos , México , Técnica Delphi , ConsensoRESUMEN
We report the design of an integrated photon pair source based on spontaneous four-wave mixing (SFWM), implemented in an integrated micro-ring resonator in the silicon nitride platform (Si3N4). The signal photon is generated with emission at 606 nm and bandwidth of 3.98 MHz, matching the spectral properties of praseodymium ions (Pr), while the idler photon is generated at 1430.5 nm matching the wavelength of a CWDM channel in the E-band. This novel, to the best of our knowledge, device is designed to interact with a quantum memory based on a Y2SiO5 crystal doped with Pr3+ ions, in which we used cavity-enhanced SFWM along with dispersion engineering to reach the required wavelength and the few megahertz signal photon spectral bandwidth.
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Human cell line models, including the neuronal precursor line LUHMES, are important for investigating developmental transcriptional dynamics within imprinted regions, particularly the 15q11-q13 Angelman (AS) and Prader-Willi (PWS) syndrome locus. AS results from loss of maternal UBE3A in neurons, where the paternal allele is silenced by a convergent antisense transcript UBE3A-ATS, a lncRNA that normally terminates at PWAR1 in non-neurons. qRTPCR analysis confirmed the exclusive and progressive increase in UBE3A-ATS in differentiating LUHMES neurons, validating their use for studying UBE3A silencing. Genome-wide transcriptome analyses revealed changes to 11,834 genes during neuronal differentiation, including the upregulation of most genes within the 15q11-q13 locus. To identify dynamic changes in chromatin loops linked to transcriptional activity, we performed a HiChIP validated by 4C, which identified two neuron-specific CTCF loops between MAGEL2-SNRPN and PWAR1-UBE3A. To determine if allele-specific differentially methylated regions (DMR) may be associated with CTCF loop anchors, whole genome long-read nanopore sequencing was performed. We identified a paternally hypomethylated DMR near the SNRPN upstream loop anchor exclusive to neurons and a paternally hypermethylated DMR near the PWAR1 CTCF anchor exclusive to undifferentiated cells, consistent with increases in neuronal transcription. Additionally, DMRs near CTCF loop anchors were observed in both cell types, indicative of allele-specific differences in chromatin loops regulating imprinted transcription. These results provide an integrated view of the 15q11-q13 epigenetic landscape during LUHMES neuronal differentiation, underscoring the complex interplay of transcription, chromatin looping, and DNA methylation. They also provide insights for future therapeutic approaches for AS and PWS.