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La isquemia mesentérica aguda (IMA) es una emergencia médico-quirúrgica poco frecuente con alta morbimortalidad. Corresponde a una interrupción brusca del aporte sanguíneo a un segmento del intestino, produciendo isquemia, daño celular, necrosis intestinal y eventualmente la muerte. La principal etiología de este cuadro es la oclusión arterial de tipo embólica, seguida por la trombótica, no oclusiva y trombótica venosa. Es una patología infrecuente con una incidencia baja, de 12 por 100.000 habitantes en series internacionales. Su principal síntoma es el dolor abdominal tipo cólico de comienzo brusco, vómitos y diarrea, esta última sucediendo posteriormente. En el examen físico se pueden constatar signos de shock y distensión abdominal. Ante la sospecha, los pacientes hemodinámicamente inestables deben ser llevados urgentemente a laparotomía exploradora, y en aquellos estables, se debe solicitar un Angio-TC para confirmar el diagnóstico y planificar el tratamiento. Existen dos métodos para tratar esta patología: la cirugía abierta y la cirugía endovascular o mínimamente invasiva. Finalmente, con el avance de estos nuevos métodos, la tasa de mortalidad ha disminuido, significativamente, en la última década.

Acute mesenteric ischemia (AMI) is a rare medical-surgical emergency that must be treated early due to its high morbidity and mortality. It corresponds to a sudden interruption of the blood supply to a segment of the intestine, producing ischemia, cell damage, intestinal necrosis and eventually death if it is not treated. The main etiology of this condition is embolic-type arterial occlusion, followed by thrombotic, nonocclusive, and venous thrombotic. It is an infrequent pathology with a low incidence of 12 per 100,000 inhabitants in international series. During the information collection, no data was found on the Chilean population since before 1983. Its main symptom is colicky abdominal pain with a sudden onset, vomiting and diarrhea that begins after the pain. On physical examination, signs of shock and abdominal distention may be noted. Hemodynamically unstable patients should be urgently taken to exploratory laparotomy as soon as the condition is suspected, and in stable patients, an angio-CT should be requested to confirm the diagnosis and plan treatment. There are two methods to treat this pathology, open surgery and endovascular or minimally invasive surgery. The form of therapy depends on the preoperative or intraoperative findings and the type of etiology. Finally, with the advancement of these new methods, the mortality rate has decreased in the last decade.

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Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.

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Objective.This paper aims to bridge the gap between neurophysiology and automatic control methodologies by redefining the Wilson-Cowan (WC) model as a control-oriented linear parameter-varying (LPV) system. A novel approach is presented that allows for the application of a control strategy to modulate and track neural activity.Approach.The WC model is redefined as a control-oriented LPV system in this study. The LPV modelling framework is leveraged to design an LPV controller, which is used to regulate and manipulate neural dynamics.Main results.Promising outcomes, in understanding and controlling neural processes through the synergistic combination of control-oriented modelling and estimation, are obtained in this study. An LPV controller demonstrates to be effective in regulating neural activity.Significance.The presented methodology effectively induces neural patterns, taking into account optogenetic actuation. The combination of control strategies with neurophysiology provides valuable insights into neural dynamics. The proposed approach opens up new possibilities for using control techniques to study and influence brain functions, which can have key implications in neuroscience and medicine. By means of a model-based controller which accounts for non-linearities, noise and uncertainty, neural signals can be induced on brain structures.

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Ribbing's disease is a rare form of sclerosing bone dysplasia characterized by exuberant yet benign endosteal bone, and periosteum formation in the diaphysis of long bones. Diagnosis relies on exclusionary criteria, as the primary clinical manifestations entail progressive pain unresponsive to analgesic therapy, accompanied by serological markers within normal ranges. Pain management constitutes the cornerstone of treatment, with surgery appearing to offer the most efficacious approach, despite the absence of a standardized therapeutic algorithm. The diagnostic and therapeutic delays associated with Ribbing's disease, reaching up to 16 years, exert a profound impact on patients' quality of life. Hence, the purpose of our work is to present a case report of Ribbing's disease and conduct a comprehensive literature review on the subject matter.

La enfermedad de Ribbing es una forma rara de displasia ósea esclerosante caracterizada por una formación exuberante, aunque benigna, de hueso endóstico y periostio en la diáfisis de los huesos largos. El diagnóstico se basa en criterios de exclusión, ya que las manifestaciones clínicas principales implican dolor progresivo que no responde a analgésicos, acompañado de marcadores serológicos normales. El manejo del dolor constituye la piedra angular del tratamiento y la cirugía parece ofrecer el enfoque más efectivo, a pesar de no contar con un algoritmo terapéutico estandarizado. Los retrasos diagnósticos y terapéuticos asociados con la enfermedad de Ribbing, que pueden alcanzar hasta 16 años, impactan profundamente en la calidad de vida de los pacientes. Por lo tanto, el propósito de nuestro trabajo es presentar un reporte de caso de la enfermedad de Ribbing y realizar una revisión bibliográfica exhaustiva sobre el tema.

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Resumen: La enfermedad de Ribbing es una forma rara de displasia ósea esclerosante caracterizada por una formación exuberante, aunque benigna, de hueso endóstico y periostio en la diáfisis de los huesos largos. El diagnóstico se basa en criterios de exclusión, ya que las manifestaciones clínicas principales implican dolor progresivo que no responde a analgésicos, acompañado de marcadores serológicos normales. El manejo del dolor constituye la piedra angular del tratamiento y la cirugía parece ofrecer el enfoque más efectivo, a pesar de no contar con un algoritmo terapéutico estandarizado. Los retrasos diagnósticos y terapéuticos asociados con la enfermedad de Ribbing, que pueden alcanzar hasta 16 años, impactan profundamente en la calidad de vida de los pacientes. Por lo tanto, el propósito de nuestro trabajo es presentar un reporte de caso de la enfermedad de Ribbing y realizar una revisión bibliográfica exhaustiva sobre el tema.

Abstract: Ribbing's disease is a rare form of sclerosing bone dysplasia characterized by exuberant yet benign endosteal bone, and periosteum formation in the diaphysis of long bones. Diagnosis relies on exclusionary criteria, as the primary clinical manifestations entail progressive pain unresponsive to analgesic therapy, accompanied by serological markers within normal ranges. Pain management constitutes the cornerstone of treatment, with surgery appearing to offer the most efficacious approach, despite the absence of a standardized therapeutic algorithm. The diagnostic and therapeutic delays associated with Ribbing's disease, reaching up to 16 years, exert a profound impact on patients' quality of life. Hence, the purpose of our work is to present a case report of Ribbing's disease and conduct a comprehensive literature review on the subject matter.

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The clinical course of COVID-19 may show severe presentation, potentially involving dynamic cytokine storms and T cell lymphopenia, which are leading causes of death in patients with SARS-CoV-2 infection. Plasma exchange therapy (PLEX) effectively removes pro-inflammatory factors, modulating and restoring innate and adaptive immune responses. This clinical trial aimed to evaluate the impact of PLEX on the survival of patients with severe SARS-CoV-2 and the effect on the cytokine release syndrome. Hospitalized patients diagnosed with SARS-CoV-2 infection and cytokine storm syndrome were selected to receive 2 sessions of PLEX or standard therapy. Primary outcome was all-cause 60-days mortality; secondary outcome was requirement of mechanical ventilation, SOFA, NEWs-2 scores modification, reduction of pro-inflammatory biomarkers and hospitalization time. Twenty patients received PLEX were compared against 40 patients receiving standard therapy. PLEX reduced 60-days mortality (50% vs 20%; OR 0.25, 95%CI 0.071-0.880; p = 0.029), and this effect was independent from demographic variables and drug therapies used. PLEX significantly decreased SOFA, NEWs-2, pro-inflammatory mediators and increased lymphocyte count, accompanied with a trend to reduce affected lung volume, without effect on SatO2/FiO2 indicator or mechanical ventilation requirement. PLEX therapy provided significant benefits of pro-inflammatory clearance and reduction of 60-days mortality in selected patients with COVID-19, without significant adverse events.

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INTRODUCTION: Developmental hip dysplasia (DHD) is the most common disorder affecting pediatric hip; screening all neonates clinically, and using ultrasonography selectively for those babies who are at high risk is a widespread recommendation. our goal is to evaluate the impact that USG diagnosis and early treatment of DHD has had on the child population of our unit. MATERIAL AND METHODS: Retrospective, descriptive and cross-sectional study. Records of those children from one to six months of age, with a diagnosis of DHD, without distinction of sex, subjected to ultrasonographic tracking in the period from January 2018 to December 2019 were reviewed. A follow-up of six months was carried out in all patients, from the moment of diagnosis and the start of treatment with harness, weekly visits for relocation, as well as ultrasonographic revision every four weeks to monitor the treatment. RESULTS: 19 cases were reported from the left side (47.5%), 10 cases from the right side (25%) and 11 bilateral cases (27.5%). The main associated risk factors were: product of the first pregnancy, family history of DHD, pelvic presentation, female sex. The results were favorable with a continuous use of harness of 23 hours observing a satisfactory evolution in 99.2% of the patients. CONCLUSION: With the results obtained we can analyze the considerable success rate of the hip clinic of our hospital with the realization of the ultrasound, we find a lower incidence of patients with pain, limitation of function, as well as satisfactory gait patterns.

INTRODUCCIÓN: La displasia del desarrollo de cadera (DDC) es el trastorno más común que afecta la cadera pediátrica; hacer tamizaje a todos los neonatos en forma clínica y utilizar ultrasonografía en forma selectiva para aquellos bebés que se encuentran con alto riesgo es una recomendación muy difundida. Nuestro objetivo es evaluar el impacto que ha tenido el diagnóstico por ultrasonografía (USG) y tratamiento temprano de la DDC en la población infantil de nuestra unidad. MATERIAL Y MÉTODOS: Estudio retrospectivo, descriptivo y transversal. Se revisaron expedientes de aquellos niños de uno a seis meses de edad, con diagnóstico de DDC, sin distinción de sexo, sometidos a rastreo ultrasonográfico en el período de Enero de 2018 a Diciembre de 2019. Se realizó un seguimiento de seis meses en todos los pacientes, a partir del momento del diagnóstico y del inicio de tratamiento con arnés, visitas semanales para recolocación, así como realización de rastreos ultrasonográficos cada cuatro semanas para monitorización del tratamiento. RESULTADOS: Se reportaron 19 casos del lado izquierdo (47.5%), 10 casos del lado derecho (25%) y 11 casos bilaterales (27.5%). Los principales factores de riesgo asociados fueron: producto de la primera gesta, antecedentes familiares de DDC, presentación pélvica, sexo femenino. Los resultados fueron favorables con un uso continuo de arnés de 23 horas, se observó una evolución satisfactoria en 99.2% de los pacientes. CONCLUSIÓN: Con los resultados obtenidos podemos analizar la tasa de éxito considerable de la clínica de cadera de nuestro hospital con la realización del ultrasonido, encontramos una menor incidencia de pacientes con dolor, limitación de la función, así como patrones de marcha satisfactorios.

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Background: Breast cancer is a multifactorial disease whose genetic susceptibility is related to polymorphic variants of cell proliferation and migration pathways. Variants in AXIN2 and TCF7L2 in the Wnt-ß catenin pathway have been associated with different types of cancer; however, little is known about its role in breast cancer. This study tests the hypothesis of links between AXIN2 rs1133683 and rs2240308, and TCF7L2 rs7903146 and rs12255372 variants in breast cancer. Methods: Peripheral blood samples were obtained from 404 women (202 patients and 202 control females). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology was used to identify the gene variants. Results: The AXIN2 rs2240308 (C > T), and TCF7L2 rs7903146 (C > T) and rs12255372 (G > T) variants were associated with breast cancer and with age, TNM stage, and histologic-molecular subtype (p = 0.001). Likewise, the haplotype T-T in the TCF7L2 gene (rs7903146-rs12253372) was significantly related with breast cancer (OR = 2.66, 95%, CI = 1.64-4.30, p = 0.001). Conclusion: Our data show a link between AXIN2 rs2240308 and TCF7L2 rs7903146 and rs12255372 variants in breast cancer, and speculate this may be important in pathogenesis.

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Ulcerative colitis (US) is a chronic disease of unknown etiology. It is incurable and its clinical course is intermittent, characterized by periods of remission and relapse. The prevalence and incidence of the disease has been increasing worldwide. The update presented herein includes the participation of healthcare professionals, decision-makers, and a representative of the patients, all of whom declared their conflicts of interest. Answerable clinical questions were formulated, and the outcomes were graded. The information search was conducted on the Medline/PubMed, Embase, Epistemonikos, and LILACS databases, and covered grey literature sources, as well. The search was updated on November 30, 2020, with no restrictions regarding date or language. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) classification system was implemented to establish the strength of the recommendation and quality of evidence. A formal consensus was developed, based on the RAND/UCLA methodology and the document was peer reviewed. The short version of the Clinical Practice Guidelines for the Treatment of Ulcerative Colitis in the Adult Population is presented herein, together with the supporting evidence and respective recommendations. In mild-to-moderate UC, budesonide MMX is an option when treatment with 5-ASA fails, and before using systemic steroids. In moderate-to-severe UC, infliximab, adalimumab, vedolizumab, ustekinumab, and tofacitinib can be used as first-line therapy. If there is anti-TNF therapy failure, ustekinumab and tofacitinib provide the best results. In patients with antibiotic-refractory pouchitis, anti-TNFs are the treatment of choice.

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Resumen: Introducción: La displasia del desarrollo de cadera (DDC) es el trastorno más común que afecta la cadera pediátrica; hacer tamizaje a todos los neonatos en forma clínica y utilizar ultrasonografía en forma selectiva para aquellos bebés que se encuentran con alto riesgo es una recomendación muy difundida. Nuestro objetivo es evaluar el impacto que ha tenido el diagnóstico por ultrasonografía (USG) y tratamiento temprano de la DDC en la población infantil de nuestra unidad. Material y métodos: Estudio retrospectivo, descriptivo y transversal. Se revisaron expedientes de aquellos niños de uno a seis meses de edad, con diagnóstico de DDC, sin distinción de sexo, sometidos a rastreo ultrasonográfico en el período de Enero de 2018 a Diciembre de 2019. Se realizó un seguimiento de seis meses en todos los pacientes, a partir del momento del diagnóstico y del inicio de tratamiento con arnés, visitas semanales para recolocación, así como realización de rastreos ultrasonográficos cada cuatro semanas para monitorización del tratamiento. Resultados: Se reportaron 19 casos del lado izquierdo (47.5%), 10 casos del lado derecho (25%) y 11 casos bilaterales (27.5%). Los principales factores de riesgo asociados fueron: producto de la primera gesta, antecedentes familiares de DDC, presentación pélvica, sexo femenino. Los resultados fueron favorables con un uso continuo de arnés de 23 horas, se observó una evolución satisfactoria en 99.2% de los pacientes. Conclusión: Con los resultados obtenidos podemos analizar la tasa de éxito considerable de la clínica de cadera de nuestro hospital con la realización del ultrasonido, encontramos una menor incidencia de pacientes con dolor, limitación de la función, así como patrones de marcha satisfactorios.

Abstract: Introduction: Developmental hip dysplasia (DHD) is the most common disorder affecting pediatric hip; screening all neonates clinically, and using ultrasonography selectively for those babies who are at high risk is a widespread recommendation. our goal is to evaluate the impact that USG diagnosis and early treatment of DHD has had on the child population of our unit. Material and methods: Retrospective, descriptive and cross-sectional study. Records of those children from one to six months of age, with a diagnosis of DHD, without distinction of sex, subjected to ultrasonographic tracking in the period from January 2018 to December 2019 were reviewed. A follow-up of six months was carried out in all patients, from the moment of diagnosis and the start of treatment with harness, weekly visits for relocation, as well as ultrasonographic revision every four weeks to monitor the treatment. Results: 19 cases were reported from the left side (47.5%), 10 cases from the right side (25%) and 11 bilateral cases (27.5%). The main associated risk factors were: product of the first pregnancy, family history of DHD, pelvic presentation, female sex. The results were favorable with a continuous use of harness of 23 hours observing a satisfactory evolution in 99.2% of the patients. Conclusion: With the results obtained we can analyze the considerable success rate of the hip clinic of our hospital with the realization of the ultrasound, we find a lower incidence of patients with pain, limitation of function, as well as satisfactory gait patterns.