Diagnóstico prenatal de clorhidrorrea congénita: reporte de caso / Prenatal diagnosis of congenital chloride diarrhea: A case report

La clorhidrorrea congénita es un trastorno genético infrecuente pero importante caracterizado por una alteración grave del balance hidroelectrolítico como resultado de un defecto en la absorción intestinal de cloruros. Los niños afectados presentan diarrea persistente, deshidratación y malnutrición; el control médico y del desarrollo son complejos. Mejorar la detección prenatal es esencial para facilitar la atención del paciente, las intervenciones tempranas y el asesoramiento genético informado. Sin embargo, a pesar de los avances de la medicina, la naturaleza compleja y la escasa frecuencia de esta entidad, constituyen un desafío para la detección prenatal. En este estudio, se reporta el caso de una embarazada donde los estudios por imágenes de resonancia magnética fetales identificaron en forma efectiva las características típicas de la clorhidrorrea congénita. Se proveen conocimientos sobre las complejidades del diagnóstico y se sugieren caminos para las estrategias de detección temprana de esta enfermedad.

Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.

Tuberculosis abdominal en pediatría: presentación de un caso / Abdominal tuberculosis in pediatrics: A case report

La tuberculosis es una enfermedad infectocontagiosa cuya forma de presentación más frecuente es la pulmonar; la afectación abdominal es poco frecuente, por lo que su diagnóstico continúa siendo un desafío. Las manifestaciones clínicas de la tuberculosis abdominal así como sus hallazgos en el examen físico suelen ser inespecíficos y, en muchas ocasiones, similares a los de otras patologías, por lo que es fundamental considerarla entre los diagnósticos diferenciales. Se presenta el caso clínico de un paciente de sexo masculino, de 15 años de edad, hospitalizado por un síndrome febril prolongado asociado a dolor abdominal, diarrea, sudoración nocturna y pérdida de peso

Tuberculosis is an infectious disease which most commonly compromises the respiratory system, whereas abdominal involvement is rare, thus its diagnosis is a challenge. The clinical manifestations of abdominal tuberculosis as well as its physical examination findings are usually non-specific and, frequently, similar to those of other diseases, so it is critical to consider abdominal tuberculosis among the differential diagnoses. Here we report the clinical case of a 15-year-old male patient hospitalized for a prolonged febrile syndrome associated with abdominal pain, diarrhea, night sweats, and weight loss.

Analysis of 9 cases of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis / 中华儿科杂志

Objective: To analyze the clinical features,treatment and prognosis of drug induced hypersensitivity syndrome related hemophagocytic lymphohistiocytosis (DIHS-HLH). Methods: This was a retrospective case study. Clinical characteristics, laboratory results, treatment and prognosis of 9 patients diagnosed with DIHS-HLH in Beijing Children's hospital between January 2020 and December 2022 were summarized. Kaplan-Meier survival analysis was used to calculate the overall survival rate. Results: Among all 9 cases, there were 6 males and 3 females, with the age ranged from 0.8 to 3.1 years. All patients had fever, rash, hepatomegaly and multiple lymph node enlargement. Other manifestations included splenomegaly (4 cases), pulmonary imaging abnormalities (6 cases), central nervous system symptoms (3 cases), and watery diarrhea (3 cases). Most patients showed high levels of soluble-CD25 (8 cases), hepatic dysfunction (7 cases) and hyperferritinemia (7 cases). Other laboratory abnormalities included hemophagocytosis in bone marrow (5 cases), hypofibrinogenemia (3 cases) and hypertriglyceridemia (2 cases). Ascending levels of interleukin (IL) 5, IL-8 and interferon-γ (IFN-γ) were detected in more than 6 patients. All patients received high dose intravenous immunoglobulin, corticosteroid and ruxolitinib, among which 4 patients were also treated with high dose methylprednisolone, 2 patients with etoposide and 2 patients with cyclosporin A. After following up for 0.2-38.6 months, 7 patients survived, and the 1-year overall survival rate was (78±14)%. Two patients who had no response to high dose immunoglobulin, methylprednisolone 2 mg/(kg·d) and ruxolitinib died. Watery diarrhea, increased levels of IL-5 and IL-8 and decreased IgM were more frequently in patients who did not survive. Conclusions: For children with fever, rash and a suspicious medication history, when complicated with hepatomegaly, impaired liver function and high levels of IL-5 and IL-8, DIHS-HLH should be considered. Once diagnosed with DIHS-HLH, suspicious drugs should be stopped immediately, and high dose intravenous immunoglobulin, corticosteroid and ruxolitinib could be used to control disease.

McKittrick Wheelock syndrome secondary to adenocarcinoma of the rectum: case report and diagnostic considerations

Introduction: McKittrick-Wheelock syndrome is a rare entity characterized by chronic diarrhea, acute kidney injury, and hydroelectrolytic imbalance associated with a large rectal tumor, frequently a villous adenoma. Case report: A 69-year-old male with chronic diarrhea with mucus. He underwent a colonoscopy with biopsies, reporting adenocarcinoma of the rectum in situ, and underwent a robot assisted intersphincteric resection with colo-anal anastomosis and a protecitive ileostomy. Discussion: Described in 1954, this syndrome is manifested by electrolyte imbalance and acute renal injury secondary to diarrhea associated with a rectal villous adenoma, often with long lasting symptoms. The most frequent symptom being watery diarrhea with mucus. The definitive treatment consists of surgical resection. Conclusion: Although this is a rare pathology, it should be considered as a differential diagnosis in cases of chronic diarrhea associated with water and electrolyte disorders. (AU)

Síndrome post-colecistectomía: análisis de una cohorte prospectiva / Post-cholecystectomy syndrome: Descriptive analysis of a prospective cohort

Introducción. El síndrome post-colecistectomía fue descrito hace más de 70 años y se define como la presencia de síntomas gastrointestinales que pueden persistir después de la colecistectomía o aparecer como nuevos síntomas. Este síndrome, poco conocido, puede manifestarse desde pocos meses hasta varios años luego de la cirugía y ocurre entre 5 % y 40 % de los pacientes. Método. Estudio de cohorte prospectiva, que incluyó pacientes a quienes se les realizó colecistectomía laparoscópica en tres unidades quirúrgicas de Bogotá, D.C., Colombia, durante un período de ocho meses, con seguimientos periódicos durante dos años. El síndrome post-colecistectomía se definió como la presencia de al menos un síntoma gastrointestinal a partir del primer mes de la cirugía. Resultados. Se incluyeron 380 pacientes de los cuales 183 (48,2 %) desarrollaron el síndrome. La edad tuvo diferencia estadísticamente significativa entre aquellos que lo desarrollaron y los que no (p=0,024). La diarrea fue el único síntoma preoperatorio asociado al desarrollo del síndrome. El síndrome post-colecistectomía se encontró en el 42,1 % de los pacientes al primer mes de seguimiento y en el 17,4 % al segundo año. Conclusiones. El síndrome post-colecistectomía ocurre en un porcentaje importante de pacientes. En concordancia con la literatura, se encontró que la diarrea prequirúrgica es un factor de riesgo independiente para el desarrollo del síndrome. Se recomienda un adecuado seguimiento de los pacientes después de una colecistectomía

Introduction. Post-cholecystectomy syndrome (PCS) was described more than 70 years ago and is defined as the presence of gastrointestinal (GI) symptoms that may persist after cholecystectomy or can present as new symptoms. This little-known syndrome can appear from a few months to several years after surgery and occurs between 5% and 40% of patients. Method. Prospective cohort study, which included patients who underwent laparoscopic cholecystectomy in three surgical units in Bogotá, Colombia, during a period of eight months, with periodic follow-up for two years. PCS was defined as the presence of at least one GI symptom from the first month after surgery. Results. Three-hundred and eighty patients were included, of which 183 (48.2%) developed the syndrome. Age had a statistically significant difference between those who developed PCS and those who did not (p=0.024). Diarrhea was the only preoperative symptom associated with the development of PCS. Post-cholecystectomy syndrome was found in 42.1% at the first month of follow-up and in 17.4% at the second year. Conclusions. Post-cholecystectomy syndrome occurs in a significant percentage of patients. Consistent with the literature, preoperative diarrhea was found to be an independent risk factor for the development of the syndrome. Adequate follow-up of patients after cholecystectomy is recommended

Síndrome urémico hemolítico del adulto / Adult hemolytic uremic syndrome

El síndrome urémico hemolítico (SUH), descripto en 1955, se caracteriza por la tríada de anemia hemolítica no inmunomediada, trombocitopenia y lesión renal aguda. En su patogenia interviene la toxina Shiga, producida con mayor frecuencia por E. coli O157:H. Puede manifestarse a cualquier edad, aunque es infrecuente en adultos, y se desarrolla en forma esporádica o en brote. Se presenta con un cuadro de dolor abdominal, diarrea, fiebre y vómitos. Puede afectar el sistema nervioso central, pulmones, páncreas y corazón. En adultos, el síndrome evoluciona tras un período de incubación de 1 semana posterior a la diarrea y tiene alta morbimortalidad, a diferencia de los casos pediátricos. Presentamos el caso de una paciente adulta, que cursó internación por síndrome urémico hemolítico. (AU)

Hemolytic uremic syndrome (HUS), described in 1955, is characterized by the triad of non-immune mediated hemolytic anemia, thrombocytopenia, and acute kidney injury. Shiga toxin, produced most frequently by E coli O157:H, is involved in its pathogenesis. Hus can manifest at any age, although it is rare in adults and develops sporadically or in outbreaks. HUS presents with a picture of abdominal pain, diarrhea, fever and vomiting. It can affect the central nervous system, lungs, pancreas, and heart.In adults, the syndrome evolves after an incubation period of 1 week after diarrhea, with high morbidity and mortality, unlike pediatric cases.We present the case of an adult patient who was hospitalized for hemolytic uremic syndrome. (AU)

Acidosis metabólica neonatal por síndrome de enterocolitis inducido por proteína de alimentos: reporte de caso / Neonatal metabolic acidosis caused by food proteininduced enterocolitis syndrome: a case report

El síndrome de enterocolitis inducido por proteínas de los alimentos (FPIES, por su sigla en inglés) es una reacción alérgica no mediada por inmunoglobulina E (IgE) con síntomas gastrointestinales, como vómitos y diarrea. El diagnóstico se basa en criterios clínicos y en una prueba de provocación para confirmarlo. Es una enfermedad desconocida en las unidades neonatales, debido a la inespecificidad de los síntomas en los recién nacidos. La cifra de metahemoglobina elevada es una opción sencilla de aproximación diagnóstica. Se describe el caso clínico de un recién nacido que ingresa al servicio de urgencias por deshidratación, letargia, vómitos, diarrea y acidosis metabólica grave con elevación de metahemoglobina, con mejora clínica y recuperación total tras el inicio del aporte de fórmula elemental. La sospecha diagnóstica se confirmó tras la prueba de provocación positiva.

Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE mediated allergic reaction with gastrointestinal symptoms, such as vomiting and diarrhea. FPIES diagnosis is based on clinical criteria and on a food challenge test. It is an unknown disease in neonatal units due to its nonspecific symptoms in newborn infants. An elevated methemoglobin level is a simple way to approach diagnosis. Here we describe a clinical case of a newborn admitted to the emergency department because of dehydration, lethargy, vomiting, diarrhea, severe metabolic acidosis, and a high methemoglobin level. Clinical improvement and complete recovery was achieved after initiation of elemental formula. The diagnostic suspicion was confirmed after a positive challenge test.

Mutación DGAT1 en dos hermanas con falla de medro: reporte de caso / DGAT1 mutation in two sisters with failure to thrive: a case report

Las diarreas y enteropatías congénitas (CODE por su sigla en inglés) son un grupo de trastornos monogénicos que se han descrito en los últimos años. Dentro de las CODE, la mutación del gen de la diacilglicerol o-aciltransferasa 1 (DGAT1) es un trastorno enzimático poco común asociado con diarrea crónica grave de aparición temprana. El objetivo es presentar a dos hermanas que consultaron por diarrea crónica, retraso en el crecimiento, vómitos e hipoalbuminemia en la primera infancia. En ambas pacientes se encontró un compuesto heterocigota de la mutación del DGAT1. Esta mutación se describió previamente en la población asiática; sin embargo, estas son las dos primeras pacientes en tener esta mutación en la población latinoamericana. Estos dos casos pueden ampliar nuestro conocimiento sobre las diarreas congénitas en general y las características clínicas de los pacientes con mutaciones en DGAT1 en particular.

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and hypoalbuminemia in early childhood. A compound heterozygous DGAT1 mutation was found in both patients. This mutation was previously described in the Asian population; however, these are the first 2 patients to show this mutation in the Latin American population. These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular.

Uso de suplementos nutricionais por crianças vivendo com HIV: revisão narrativa / Use of dietary supplements by children living with HIV: narrative review / Uso de suplementos dietéticos por niños que viven con el HIV: revisión narrativa

Introdução: A suplementação nutricional em pessoas vivendo com HIV ainda é pouco difundida, sendo essencial o levantamento de evidências que apontem as terapêuticas mais eficientes para beneficiar a saúde desta população. Ao se tratar do público infantil, no qual a prevalência de carências nutricionais é elevada, o conhecimento acerca da suplementação nutricional é bastante profícuo. Objetivo: Analisar relatórios de pesquisa acerca dos efeitos do uso de suplementos nutricionais em crianças vivendo com HIV. Desenho do estudo e local: Uma revisão narrativa realizada na Universidade Federal do Maranhão, em Imperatriz, município localizado no oeste do estado do Maranhão. Método: Foi realizada uma busca nos bancos de dados Cochrane, PubMed, Scopus, WHO/OMS e biblioteca digital de teses e dissertações da USP entre setembro de 2021 a janeiro de 2022. Resultados: Foram incluídas 26 produções, as quais demonstraram que o uso de múltiplos nutrientes reduziu o tempo de hospitalização em crianças admitidas com diarreia ou pneumonia, melhorando a morbidade, concentração de hemoglobina e ganho ponderal. A oferta de ferro foi considerada satisfatória no combate à progressão da doença, vitamina A melhorou o quadro de diarreia persistente e vitamina D a habilidade motora neuromuscular. Conclusão: Os estudos sobre suplementação nutricional e a relação dos nutrientes com os diversos aspectos de saúde das crianças vivendo com HIV tem avançado. Logo, é necessário alargar as pesquisas no tema em contextos distintos, a fim de incrementar e gerar novas evidências, colaborando para uma conduta mais assertiva dos profissionais de saúde e consequente melhora no prognóstico dessas crianças.

Background: Providing nutritional supplementation to people living with human immunodeficiency virus (HIV) is a therapeutic intervention still not widespread, so it is essential to gather evidence supporting efficient therapies to benefit the health of this population. The prevalence of nutritional deficiencies is high in children; consequently, the knowledge about nutritional supplementation in this age group is quite fruitful. Objective: To analyze research reports on the effects of nutritional supplementation in children living with HIV. Design and setting: A narrative review was conducted at the Federal University of Maranhão, Imperatriz, west of the Maranhão State. Methods: The searches were performed in the Cochrane, PubMed, Scopus, and World Health Organization (WHO) databases and the São Paulo University's digital library of theses and dissertations from September 2021 to January 2022. Results: Twenty-six studies were included and showed that using multiple nutrients reduced the hospitalization time of children admitted with diarrhea or pneumonia, improving morbidity, hemoglobin concentration, and weight gain. The supply of iron was considered effective in combating the progression of the disease, vitamin A improved the condition of persistent diarrhea, and vitamin D improved neuromuscular motor skills. Conclusion: Studies have advanced on nutritional supplementation, the relationship between nutrients, and the different health aspects of children living with HIV. Therefore, it is necessary to expand research on the subject in different contexts to increase and generate new evidence, contributing to more assertive conduct of health professionals and consequent improvement in the prognosis of these children.

Antecedentes: La administración de suplementos nutricionales a las personas que viven con el virus de la inmunodeficiencia humana (VIH) es una intervención terapéutica aún poco extendida, por lo que es fundamental reunir pruebas que apoyen terapias eficaces en beneficio de la salud de esta población. La prevalencia de deficiencias nutricionales es elevada en niños, por lo que el conocimiento sobre la suplementación nutricional en este grupo de edad es bastante fructífero. Objetivo: Analizar los informes de investigación sobre los efectos de la suplementación nutricional en niños que viven con el VIH. Diseño y escenario: Se realizó una revisión narrativa en la Universidad Federal de Maranhão, Imperatriz, al oeste del Estado de Maranhão. Métodos: Las búsquedas se realizaron en las bases de datos Cochrane, PubMed, Scopus y Organización Mundial de la Salud (OMS) y en la biblioteca digital de tesis y disertaciones de la Universidad de São Paulo desde septiembre de 2021 hasta enero de 2022. Resultados: Se incluyeron 26 estudios que mostraron que el uso de múltiples nutrientes redujo el tiempo de hospitalización de los niños ingresados con diarrea o neumonía, mejorando la morbilidad, la concentración de hemoglobina y el aumento de peso. El aporte de hierro se consideró eficaz para combatir la progresión de la enfermedad, la vitamina A mejoró el cuadro de diarrea persistente y la vitamina D mejoró las habilidades motoras neuromusculares. Conclusiones: Los estudios han avanzado sobre la suplementación nutricional, la relación entre los nutrientes y los diferentes aspectos de la salud de los niños que viven con el VIH. Por lo tanto, es necesario ampliar las investigaciones sobre el tema en diferentes contextos para aumentar y generar nuevas evidencias, contribuyendo para una conducta más asertiva de los profesionales de salud y consecuente mejoría en el pronóstico de estos niños.

Síndrome urémico hemolítico: reporte de dos casos pediátricos con nexo epidemiológico / Hemolytic uremic syndrome: report of two pediatric clinical cases with epidemiologic link / Síndrome urémico hemolítico: reporte de casos pediátricos con nexo epidemiológico

Introducción: el síndrome hemolítico urémico (SHU) es en muchos países, de las causas más frecuentes de insuficiencia renal aguda. La mayoría de los casos ocurre luego de un episodio de gastroenteritis aguda (GEA) por Escherichia coli productora de toxina Shiga (STEC). En Uruguay a pesar de ser una enfermedad de notificación obligatoria, existe subregistro. Objetivo: describir dos casos clínicos de SHU asociados a GEA con nexo epidemiológico. Casos clínicos: se trata de dos varones de 4 y 5 años, sanos. En los días previos, ingesta de carne en el mismo local comercial. Consultaron por dolor abdominal, deposiciones líquidas y vómitos reiterados. El niño de 4 años presentaba fiebre y deposiciones líquidas con sangre. El niño de 5 años dolor abdominal. El estado de hidratación y las constantes vitales eran normales en ambos. Fueron admitidos a cuidados moderados. A las 48 horas y a los 5 días, respectivamente, agregan palidez cutáneo-mucosa intensa, edemas y oliguria. Estudios complementarios: anemia, plaquetopenia e insuficiencia renal. Ingresaron a cuidados intensivos y se realizó diálisis peritoneal. La investigación de STEC fue negativa y la evolución favorable. Conclusiones: en menores de 5 años el SHU asociado a GEA es la forma de enfermedad más frecuente. En Uruguay predominan las cepas STEC no-O157. En estos casos no se pudo identificar el agente. La existencia de un nexo epidemiológico alerta sobre la necesidad de extremar los cuidados en la preparación y cocción de la carne. Debido a la asociación con una enfermedad prevalente, es necesario tener presente esta complicación para poder sospecharla e iniciar el tratamiento en forma precoz y oportuna.

Introduction: hemolytic uremic syndrome (HUS) is one of the most frequent causes of acute renal failure in many countries. Most cases occur after an episode of acute gastroenteritis (GEA) due to the Shiga toxin producing Escherichia Soli (STEC). In Uruguay, despite being a disease that requires mandatory notification, it is under reported. Objective: to describe two clinical cases of HUS associated with GEA with an epidemiological link. Clinical cases: these are two healthy boys aged 4 and 5 years. In the previous days, they reported meat intake in the same commercial premises. They consulted for abdominal pain, liquid stools and repeated vomiting. The 4 year old boy had a fever and bloody stools. The 5 year old boy had abdominal pain. They both showed normal hydration levels and vital signs. They were admitted to moderate care. At 48 hours and 5 days, respectively, they showed intense skin and mucosal paleness, edema and oliguria. Complementary studies: anemia, thrombocytopenia and renal failure. They were admitted to intensive care and peritoneal dialysis was performed. The STEC's investigation was negative and the evolution favorable. Conclusions: in children under 5 years of age, HUS associated with GEA is the most frequent form of the disease. In Uruguay, non-O157 STEC strains predominate. In these cases, the agent could not be identified. The existence of an epidemiological link warns us about the need for extreme care in the preparation and cooking of meat. Due to the association with a prevalent disease, it is necessary to keep this complication in mind in order to suspect it and initiate early and timely treatment.

Introdução: a síndrome hemolítico urêmica (SHU) é uma das causas mais frequentes de insuficiência renal aguda em muitos países. A maioria dos casos ocorre após um episódio de gastroenterite aguda (GEA) devido à Escherichia Coli, a toxina produtora de Shiga (STEC). No Uruguai, apesar de ser uma doença de notificação compulsória, há subnotificação. Objetivo: descrever dois casos clínicos de SHU associada à AGE com vínculo epidemiológico. Casos clínicos: dois meninos saudáveis com idades entre 4 e 5 anos. Nos dias anteriores, eles reportaram consumo de carne nos mesmos estabe- lecimentos comerciais. Eles consultaram para dor abdominal, fezes líquidas e vômitos repetidos. O menino de 4 anos teve febre e fezes com sangue. O menino de 5 anos teve dores abdominais. O estado de hidratação e os sinais vitais foram normais em ambos meninos. Foram internados em cuidados moderados. Às 48 horas e 5 dias, respectivamente, apresentaram aliás palidez intensa da pele e mucosas, edema e oligúria. Realizaramse estudos complementares: anemia, trombocitopenia e insuficiência renal. Eles foram internados em terapia intensiva e realizouse diálise peritoneal. A investigação do STEC foi negativa e a evolução favorável. Conclusões: em crianças menores de 5 anos, a SHU associada à GEA é a forma mais frequente da doença. No Uruguai, predominam cepas STEC não-O157. Nesses casos, o agente não pôde ser identificado. A existência de um nexo epidemiológico alerta para a necessidade de extremo cuidado no preparo e cozimento da carne. Devido à associação com doença prevalente, é necessário considerar essa complicação para suspeitar e iniciar o tratamento precoce e oportunamente.

Efecto del ácido deoxicólico sobre la regulación del transporte iónico intestinal en la rata / Deoxycholic acid efect on intestinal ionic transport regulation in the rat

The intestine has a very important role in the homeostasis of the internal medium. Bile acids play a regulatory role in the digestion and absorption of nutrients. Among them, deoxycholic acid, when its luminal concentration increases due to bacterial overgrowth, modifies hydroelectrolytic transport, producing an increase in the volume of water and electrolytes in stools.

El intestino tiene un papel muy importante en la homeostasis del medio interno. Los ácidos biliares cumplen una función reguladora en la digestión y absorción de nutrientes. Entre ellos el ácido deoxicólico, cuando aumenta su concentración luminal por sobrecrecimiento bacteriano, modifica el transporte hidroelectrolítico produciendo aumento del volumen de agua y electrolitos en las deposiciones.

Síndrome de Good, una causa infrecuente de diarrea crónica / Good Syndrome, a rare cause of chronic diarrhea

Chronic diarrhea is a frequent cause of consultation in daily clinical practice. There are multiple diagnostic algorithms that allow a staggered approach to the most frequent pathologies, leaving out some lesser-known ones. This article reports the case of a 66-year-old female patient with a history of arterial hypertension, dyslipidemia and resected AB thymoma and a history of chronic diarrhea of 8 weeks of evolution. The etiological study ruled out infectious causes, celiac disease and negative viral serology. Due to a history of thymoma, immunoglobulin count was performed, showing severe pan-hypogammaglobulinemia. Good's Syndrome is the combination of thymoma and hypogammaglobulinemia, where patients may present with diarrhea secondary to immunodeficiency. Hypogammaglobulinemia associated with the presence of a thymoma is a rare cause but widely described in the literature as Good's Syndrome. Therefore, it seems relevant to describe a case, its approach and subsequent management.

La diarrea crónica constituye una causa frecuente de consulta en la práctica clínica diaria. Existen múltiples algoritmos diagnósticos que permiten realizar un abordaje escalonado de las patologías más frecuentes y permiten descartar algunas menos conocidas. En el presente artículo se reporta el caso de una paciente de género femenino de 66 años, antecedentes de hipertensión arterial, dislipidemia y timoma AB resecado con historia de diarrea crónica de 8 semanas de evolución. Dentro del estudio etiológico se descartan las causas infecciosas, enfermedad celíaca y serologías virales negativas. Por antecedente de timoma, se realizó recuento de inmunoglobulinas, evidenciando una severa pan-hipogammaglobulinemia. El Síndrome de Good es la combinación de timoma e hipogammaglobulinemia, donde los pacientes podrían presentar diarreas secundarias a inmunodeficiencia. La hipogammaglobulinemia asociada a la presencia de un timoma es una causa poco frecuente pero ampliamente descrita en la literatura como Síndrome de Good. Por lo antes señalado, nos parece relevante describir un caso, su abordaje y manejo posterior.

Associations of genetic variations in pyroptosis related genes with acute adverse events in postoperative rectal cancer patients receiving concurrent chemoradiotherapy / 中华肿瘤杂志

Objective: This study aims to investigate the associations between genetic variations of pyroptosis pathway related key genes and adverse events (AEs) of postoperative chemoradiotherapy (CRT) in patients with rectal cancer. Methods: DNA was extracted from the peripheral blood which was collected from 347 patients before CRT. Sequenom MassARRAY was used to detect the genotypes of 43 haplotype-tagging single nucleotide polymorphisms (htSNPs) in eight pyroptosis genes, including absent in melanoma 2 (AIM2), caspase-1 (CASP1), caspase-4(CASP4), caspase-5 (CASP5), caspase-11 (CASP11), gasdermin D (GSDMD), gasdermin E (GSDME) and NLR family pyrin domain containing 3 (NLRP3). The associations between 43 htSNPs and AEs were evaluated by the odd ratios (ORs) and 95% confidence intervals (CIs) by unconditional logistic regression models, adjusted for sex, age, clinical stage, tumor grade, Karnofsky performance status (KPS), surgical procedure, and tumor location. Results: Among the 347 patients with rectal cancer underwent concurrent CRT with capecitabine after surgery, a total of 101(29.1%) occurred grade ≥ 2 leukopenia. rs11226565 (OR=0.41, 95% CI: 0.21-0.79, P=0.008), rs579408(OR=1.54, 95% CI: 1.03-2.29, P=0.034) and rs543923 (OR=0.63, 95% CI: 0.41-0.98, P=0.040) were significantly associated with the occurrence of grade ≥ 2 leukopenia. One hundred and fifty-six (45.0%) had grade ≥ 2 diarrhea, two SNPs were significantly associated with the occurrence of grade ≥ diarrhea, including CASP11 rs10880868 (OR=0.55, 95% CI: 0.33-0.91, P=0.020) and GSDME rs2954558 (OR=1.52, 95% CI: 1.01-2.31, P=0.050). In addition, sixty-six cases (19.0%) developed grade ≥2 dermatitis, three SNPs that significantly associated with the risk of grade ≥2 dermatitis included GSDME rs2237314 (OR=0.36, 95% CI: 0.16-0.83, P=0.017), GSDME rs12540919 (OR=0.52, 95% CI: 0.27-0.99, P=0.045) and NLRP3 rs3806268 (OR=1.51, 95% CI: 1.03-2.22, P=0.037). There was no significant difference in the association between other genetic variations and AEs of rectal cancer patients (all P>0.05). Surgical procedure and tumor location had great impacts on the occurrence of grade ≥2 diarrhea and dermatitis (all P<0.01). Conclusion: The genetic variants of CASP4, CASP11, GSDME and NLRP3 are associated with the occurrence of AEs in patients with rectal cancer who received postoperative CRT, suggesting they may be potential genetic markers in predicting the grade of AEs to achieve individualized treatment of rectal cancer.

Clinical Features of Collagenous Gastritis / 中国医学科学院学报

Objective To analyze the clinical characteristics of collagenous gastritis (CG) and provide evidence for the precise diagnosis and treatment of CG.Methods Published case reports and case series were collected from PubMed,CNKI,and Wanfang Med Online with the key words of collagenous gastritis,collagenous gastroduodenitis,collagenous gastrointestinal diseases,and gastric mucosal nodules.The demographic and clinical information of each case was collected.Results According to the extent of collagen deposition in the digestive tract,94 CG cases included in this study were assigned into upper digestive tract (UDT)-CG,total digestive tract (TDT)-CG and other groups.The UDT-CG group included 52 cases (57.69% females and 42.31% males) with a median age of 14.50 (11.00,25.75) years old.There were 17 cases in the TDT-CG group,including 70.59% females and 29.41% males,with a median age of 15.00 (9.50,48.50) years old.The other group contained 25 cases,(64.00% females and 36.00% males) with a median age of 25.00 (15.50,59.50) years old.The main clinical manifestations in the UDT-CG group were anemia (59.62%) and diarrhea (17.31%),and those in the TDT-CG group were anemia (29.41%) and diarrhea (94.12%).The nodular appearance of gastric mucosa was observed in 75.00% cases in the UDT-CG group and 35.29% cases in the TDT-CG group.In the initial treatment,symptomatic therapy and hormonal therapy respectively relieved the symptoms in 75.00% (30/40) and 100% (3/3) cases in the UDT-CG group and 57.14% (4/7) and 83.33% (5/6) cases in the TDT-CG group.In the retreatment,symptomatic therapy and hormone therapy respectively achieved the remission rates of 100.00% (3/3) and 88.89% (8/9) in the UDT-CG group and 80.00% (4/5) and 66.67% (2/3) in the TDT-CG group.Conclusions CG,a rare disease of gastric collagen deposition,mainly occurs in young patients,and females are more susceptible than males.The clinical manifestations of CG are nonspecific,and anemia,abdominal pain,diarrhea,weight loss,and gastrointestinal bleeding are the common symptoms of CG.Nodular appearance of gastric mucosa is a relatively specific endoscopic feature of CG.There is no standardized treatment for CG.Symptomatic treatment is commonly adopted to improve the quality of life of the patients,and hormones can be added when necessary.

Bovine viral diarrhea virus Erns protein expressed in Chinese hamster ovary cells and its immunogenicity analysis / 生物工程学报

The aim of this study was to produce Erns protein of bovine viral diarrhea virus (BVDV) by using suspensively cultured CHO cells expression system and to analyze the immunogenicity of the purified Erns protein. In this study, the recombinant eukaryotic expression plasmid pcDNA3.1-BVDV-Erns was constructed based on the gene sequence of BVDV-1 NADL strain. The Erns protein was secreted and expressed in cells supernatant after transfecting the recombinant expression plasmid pcDNA3.1-BVDV-Erns into CHO cells. The expression and purification of the Erns protein was analyzed by SDS-PAGE, the reactivity was determined with anti-His monoclonal antibodies and BVDV positive serum with Western blotting. Immunogenicity analysis of the Erns protein was determined after immunizing New Zealand white rabbits, and the serum antibodies were tested by indirect ELISA (iELISA) and indirect immunofluorescence (IFA). The serum neutralizing titer of the immunized rabbits was determined by virus neutralization test. The concentration of the purified Erns protein was up to 0.886 mg/mL by BCA protein quantification kit. The results showed that the Erns protein could be detected with anti-His monoclonal antibodies and anti-BVDV sera. Serum antibodies could be detected by iELISA on the 7th day post-prime immunization, and the antibody level was maintained at a high titer until the 28th day post-immunization. The antibody titer was 1:128 000. Furthermore, the expression of the Erns protein in BVDV-infected MDBK cells could be detected with immunized rabbits sera by IFA. Moreover, antigen-specific neutralizing antibodies of 2.71 log10 was induced in rabbits. In this study, purified BVDV Erns protein was successfully produced using CHO suspension culture system, and the recombinant protein was proved to have a good immunogenicity, which may facilitate the development of BVD diagnosis method and novel subunit vaccine.

A Campylobacteriosis Outbreak Caused by One Asymptomatic Food Handler Carrier / 生物医学与环境科学（英文）

In August 2021, three students with diarrhea from the same school visited a local hospital in the S district of Beijing. An epidemic investigation showed that there were more students with diarrhea in the same school and they had one meal together. Campylobacter jejuni was isolated from both patients with diarrhea and asymptomatic food handlers; however, the latter also carried Campylobacter coli. Phylogenomic analysis showed that there was a campylobacteriosis outbreak among the students, and the asymptomatic food handler may have been the source of the infection. Routine inspection and surveillance for Campylobacter is needed for the food producing staff, particularly those cooking in the cafeteria in schools or other public food services.

Effect of acupuncture and moxibustion on intestinal flora in the rats with diarrhea-predominant irritable bowel syndrome based on 16S rDNA technique / 中国针灸

OBJECTIVES@#To explore the effect of acupuncture and moxibustion on intestinal flora in the rats with diarrhea-predominant irritable bowel syndrome (IBS-D) based on 16S rDNA technique.@*METHODS@#Ten rats were randomized from 58 SPF-grade male SD rats to be the blank group. The remained 48 rats were prepared to be IBS-D models by the modified method of acetic acid enema combined with binding tail-clip stress. Forty successfully-modeled rats were randomly divided into a model group, an acupuncture group, a moxibustion group and a western medication group, with 10 rats in each one. In the acupuncture group, the needle was inserted at bilateral "Zusanli" (ST 36) and remained for 15 min in each rat. In the moxibustion group, the suspending moxibustion was delivered at bilateral "Zusanli" (ST 36) for 15 min. The rats in the western medication group were given pinaverium bromide suspension (10 mL/kg) by intragastric administration. The above interventions were performed once daily for consecutive 14 days. The body mass and the score of fecal trait were compared before and after modeling, as well as after intervention in each group. Fecal water content, diarrhea index and colon transit time (CTT) were measured after modeling and intervention in the rats of each group separately. After intervention, the colonic morphology of rats in each group was observed, and using 16S rDNA technique, the intestinal flora was detected.@*RESULTS@#After modeling, compared with the blank group, the body mass and CTT were reduced (P<0.01); fecal trait scores, fecal water contents and diarrhea index increased (P<0.01) in the other 4 groups. After intervention, the body mass and CTT of the rats decreased (P<0.01), and fecal trait score, fecal water content and diarrhea index increased (P<0.01) in the model group compared with those in the blank group. In the acupuncture group, the moxibustion group and the western medication group, when compared with the model group, the body mass and CTT were elevated (P<0.01), while fecal trait scores, fecal water contents and diarrhea index declined (P<0.01). Compared with the western medication group, fecal water content decreased in the acupuncture group and the moxibustion group (P<0.05), while CTT increased in the acupuncture group (P<0.01), the body mass increased and fecal trait score was dropped in the moxibustion group (P<0.05). The colonic mucosa structure was clear and complete, and there was no obvious inflammatory cell infiltration in the blank group. The mild interstitial edema of intestinal mucosa was presented with the infiltration of few inflammatory cells in the model group. There was the infiltration of few inflammatory cells in the mucosa of the acupuncture group, the moxibustion group and the western medication group. Compared with the blank group, the indexes of Richness, Chao1, ACE and Shannon decreased in the model group (P<0.05). Indexes of Richness, Chao1 and ACE increased in the acupuncture group and the moxibustion group (P<0.05), and the Richness index in the western medication group increased (P<0.05) when compared with those in the model group. The relative abundance of Bacteroidetes, Proteobacteria and Prevotella increased (P<0.05), and that of Firmicutes and Muribaculaceae decreased (P<0.05) in the model group compared with those in the blank group. When compared with the model group, the relative abundance of Bacteroidetes, Proteobacteria and Prevotella was reduced (P<0.05), while that of Firmicutes and Muribaculaceae increased (P<0.05) in the acupuncture group, the moxibustion group and the western medication group; and that of Actinobacteria and Bifidobacterium increased in the acupuncture group and the moxibustion group (P<0.05). Compared with the blank group, the relative abundance of lipopolysaccharide (LPS) biosynthesis was elevated (P<0.05), and that of folate biosynthesis, lipoic acid metabolism, zeatin biosynthesis, ubiquinone and other terpenoid quinone biosynthesis decreased (P<0.05) in the model group. The relative abundance of LPS biosynthesis was dropped (P<0.05), and that of folate biosynthesis, lipoic acid metabolism, zeatin biosynthesis, ubiquinone and other terpenoid quinone biosynthesis increased (P<0.05) in the acupuncture group, the moxibustion group and the western medication group compared with those of the model group.@*CONCLUSIONS@#Either acupuncture or moxibustion can relieve the symptoms of IBS-D and protect intestinal mucosa, which may be associated with regulating the structure of intestinal flora and promoting nutrient metabolism and biosynthesis.

Hunyuan moxibustion for diarrhea-predominant irritable bowel syndrome of spleen and kidney yang deficiency: a randomized controlled trial / 中国针灸

OBJECTIVE@#To compare the therapeutic effect between Hunyuan moxibustion and oral western medication on diarrhea-predominant irritable bowel syndrome（IBS-D）of spleen and kidney yang deficiency.@*METHODS@#Sixty patients with IBS-D of spleen and kidney yang deficiency were randomly divided into a Hunyuan moxibustion group and a western medication group, 30 cases each group. The Hunyuan moxibustion group was treated with Hunyuan moxibustion at Guanyuan（CV 4），40 min each time, once a day; in the western medication group，loperamide hydrochloride capsules (2 mg each time, 3 times a day) and bacillus licheniformis live capsules (0.5 g each time, 3 times a day) were given orally.Both groups were treated for 20 days. The scores of irritable bowel syndrome（IBS）symptom severity scale（IBS-SSS）, IBS quality of life scale (IBS-QOL) and TCM symptom grading quantitative were observed before and after treatment, and the clinical efficacy and safety were evaluated in the two groups.@*RESULTS@#After treatment，each item scores and total scores of IBS-SSS in the two groups were lower than those before treatment（P<0.05）, and the total scores of IBS-QOL were higher than those before treatment (P<0.05)；each item score and total score of IBS-SSS in the Hunyuan moxibustion group were lower than those in the western medication group (P<0.05), and the total score of IBS-QOL in the Hunyuan moxibustion group was higher than that in the western medication group (P<0.05).After treatment, each item score and total score of TCM symptom grading quantitative in the Hunyuan moxibustion group were lower than those before treatment (P<0.05), the abdominal pain, diarrhea, lack of appetite scores and total score in the western medication group were lower than those before treatment (P<0.05)；and the abdominal pain, soreness and weakness of waist and knees, fear to cold and cold limbs scores and total score in the Hunyuan moxibustion group were lower than those in the western medication group (P<0.05).The total effective rate was 90.0%（27/30）in the Hunyuan moxibustion group, which was higher than 73.3%（22/30）in the western medication group (P<0.05). No adverse reactions occurred in both groups during treatment.@*CONCLUSION@#Hunyuan moxibustion can effectively improve the symptom severity and quality of life in patients with IBS-D of spleen and kidney yang deficiency, especially in improving the symptoms of abdominal pain, soreness and weakness of waist and knees, fear to cold and cold limbs.Its therapeutic effect is superior to western medication.

Clinical features and antimicrobial resistance of invasive non-typhoid Salmonella infection in children at Xiamen / 中华儿科杂志

Objective: To investigate the clinical characteristics, serogroups and antimicrobial resistance of invasive non-typhoid Salmonella infection in children at Xiamen. Methods: Retrospective cohort study. The clinical manifestations, treatment, prognosis, serogroups and antimicrobial resistance of 29 hospitalized children with invasive non-typhoid Salmonella infection confirmed by blood, cerebrospinal fluid, bone marrow and other sterile body fluids or deep pus culture at the Department of Infectious Diseases, the Department of Orthopedics and the Department of General Surgery in Xiamen Children's Hospital from January 2016 to December 2021 were analyzed. According to the clinical diagnosis criteria, the patients were divided into sepsis group and non-sepsis group (bacteremia and local suppurative infection). The inflammatory markers, serogroups distribution and drug resistance were compared between the two groups. Comparison between groups using Mann-Whitney U test and χ2 test. Results: Among the 29 cases, there were 17 males and 12 females, with an onset age of 14 (9, 25) months, and 10 cases (34%) of patients were younger than 1 year old, 15 cases (52%) under 1 to 3 years old, and 4 cases (14%) greater than or equal 3 years old. The onset time of 25 cases (86%) was from April to September. The diseases included 19 cases (66%) septicemia (2 of which were combined with suppurative meningitis), 10 cases (34%) non-sepsis group, including 7 cases bacteremia and 3 cases local suppurative infection (2 cases of osteomyelitis, 1 case of appendicitis with peritonitis). The clinical manifestations were fever in 29 cases (100%), diarrhea and abdominal pain in 18 cases (62%), cough and runny nose in 10 cases (34%). Eighteen cases (62%) were cured and 11 cases (38%) were improved by effective antibiotics treatment. C-reactive protein in sepsis group was significantly higher than that in non-sepsis group (25.2 (16.1, 56.4) vs. 3.4 (0.5, 7.5) mg/L, Z=-3.81, P<0.001).The serogroups of C, B and E were the most prevalent among non-typhoid Salmonella isolates, accounting for 10 cases (34%), 9 cases (31%) and 7 cases (24%) respectively. Antibacterial drug sensitivity test showed that the sensitivity rates of imipenem, ertapenem and piperaciratazobactam were all 100% (31/31), those of ceftazidime, ceftriaxone, and cefepime were 94% (29/31), 94% (29/31) and 97% (30/31) respectively. The drug resistance rates of ampicillin, ampicillin-sulbactam and trimethoprim-sulfamethoxazole were 51% (16/31), 48% (15/31) and 48% (15/31) respectively, those of cefazolin, cefotetan, tobramycin, gentamicin and amikacinwere all 100% (31/31). There were no significant differences in the drug resistance rates of ceftazidime, ceftriaxone, aztreonam, ampicillin-sulbactam, ampicillin, trimethoprim-sulfamethoxazole and ciprofloxacin between the sepsis group and the non-sepsis group (χ2=0.31,0.31,0.00,0.02,0.02,0.02,0.26, all P>0.05). Conclusions: Invasive non-typhoid Salmonella infection in children at Xiamen mainly occurred in infants younger than 3 years old.The main clinical manifestations are fever, abdominal pain and diarrhea. C-reactive protein can be served as the laboratory indicators for indicating sepsis. The third generation of cephalosporins is recommended as the first choice for treatment.