Caracterización de pacientes con enfermedades asociadas a inmunosupresión con infecciones por Cryptosporidium spp. atendidos en un hospital pediátrico referencial de Argentina, 2018-2023 / Description of the characteristics of patients with diseases associated with immunosuppression and Cryptosporidium spp. infection seen at a referral children's hospital in Argentina, 2018­2023

Cryptosporidium spp. es un protozoario productor de diarrea. Los pacientes inmunocomprometidos pueden desarrollar formas clínicas graves y persistentes. Se describen las características de pacientes con enfermedad de base asociada a inmunosupresión (EAI) con infección por Cryptosporidium spp. (IC) atendidos en un hospital pediátrico referencial de Argentina entre los años 2018 y 2023. Se analizaron datos demográficos, EAI, características de la diarrea y coinfecciones. Se incluyeron 30 pacientes con EAI e IC. La mayoría registró trasplante de órgano sólido, neoplasia hematológica e inmunodeficiencia primaria. Dieciocho presentaron diarrea persistente al momento del diagnóstico. Seis pacientes registraron coinfecciones. Se debe considerar la criptosporidiosis en el diagnóstico diferencial de enfermedad diarreica aguda o persistente en niños con distintos tipos de EAI, como el trasplante de órgano sólido, neoplasias hematológicas e inmunodeficiencias primarias.

Cryptosporidium spp. is a diarrhea-causing protozoan. Immunocompromised patients may develop severe and persistent clinical forms. Here we describe the characteristics of patients with an underlying disease associated with immunosuppression (DAI) and Cryptosporidium spp. infection seen at a referral children's hospital in Argentina between 2018 and 2023. Demographic data, DAI, diarrhea characteristics, and co-infections were analyzed. A total of 30 patients with DAI and cryptosporidiosis were included. Most of them had undergone a solid organ transplant, had a hematologic neoplasm, or primary immunodeficiency. Persistent diarrhea was observed in 18 patients at the time of diagnosis. Co-infections were recorded in 6 patients. Cryptosporidiosis should be considered in the differential diagnosis of acute or persistent diarrhea in children with different types of DAI, such as solid organ transplant, hematologic neoplasms, and primary immunodeficiencies.

Postbióticos: un nuevo miembro en la familia de los bióticos / Postbiotics: A new member in the biotics family

Los postbióticos fueron definidos en 2021 por la Asociación Científica Internacional de Probióticos y Prebióticos (ISAPP) como "una preparación de microorganismos inanimados y/o sus componentes celulares capaces de conferir un efecto benéfico al hospedador". El campo de los postbióticos es un área nueva dentro de la familia de los bióticos; se han desarrollado ya numerosos productos con aplicaciones clínicas, como la estimulación inmunológica, el manejo de diarreas en niños y adultos, el abordaje del intestino irritable, además de tres fórmulas infantiles. En particular, las fórmulas infantiles con postbióticos obtenidos a partir de la fermentación de la leche con Bifidobacterium breve C50 y Streptococcus thermophilus O65, y sus metabolitos, incluido el oligosacárido 3'-GL, han demostrado seguridad y contribución al desarrollo de la microbiota intestinal y el sistema inmune asociado al intestino. Estas modificaciones contribuyen a la prevención y el manejo de los trastornos funcionales digestivos del lactante.

Postbiotics were defined in 2021 by the International Scientific Association for Probiotics and Prebiotics (ISAPP) as a "preparation of inanimate microorganisms and/or their cellular components that confers a health benefit to the host." The field of postbiotics is a new area within the biotics family; numerous products have already been developed for clinical applications, such as immune stimulation, the management of diarrhea in children and adults, the management of irritable bowel syndrome, and 3 infant formulas. In particular, infant formulas with postbiotics obtained from milk fermented with Bifidobacterium breve C50 and Streptococcus thermophilus O65 ­and their metabolites­, including the oligosaccharide 3'-GL, have demonstrated to be safe and to contribute to the development of the gut microbiota and the gutassociated immune system. These modifications help to prevent and manage functional gastrointestinal disorders in infants.

Virus entéricos distintos de rotavirus y norovirus en menores de 5 años con gastroenteritis en Argentina, 2010-2021. Estudio descriptivo / Enteric viruses other than rotavirus and norovirus in children under 5 years of age with gastroenteritis in Argentina, 2010­2021. A descriptive study

Introducción. Los datos de frecuencia de los adenovirus entéricos, sapovirus y astrovirus en casos de gastroenteritis aguda esporádica en Argentina son escasos. Métodos. Diseño descriptivo sobre una selección de muestras de heces de menores de 5 años con diarrea remitidas durante el período 2010-2021, con resultado previo negativo para rotavirus y norovirus. Se estudió la presencia de adenovirus entéricos, sapovirus y astrovirus por métodos moleculares, con posterior genotipificación de las muestras positivas. Resultados. De 574 muestras seleccionadas, en 226 (39,4 %) se identificó al menos uno de los virus estudiados. En particular, se detectaron adenovirus, sapovirus y astrovirus en el 30,7 %, el 5,6 % y el 3,1 %, respectivamente. El adenovirus 41, los sapovirus GI.1 y GI.2, y el astrovirus 1 fueron los más frecuentemente detectados. Se identificaron dos muestras con astrovirus no clásicos. Conclusiones. A pesar de ser menos frecuentes, estos enteropatógenos son responsables de un número considerable de episodios de diarrea esporádica. Por lo tanto, su estudio y vigilancia contribuye significativamente a reducir la brecha de casos no diagnosticados.

Introduction. Data on the frequency of enteric adenoviruses, sapoviruses, and astroviruses in cases of sporadic acute gastroenteritis in Argentina are scarce. Methods. Descriptive design of a selection of fecal samples of children with diarrhea younger than 5 years referred between 2010 and 2021, with a previous negative result for rotavirus and norovirus. The presence of enteric adenovirus, sapovirus, and astrovirus was tested by molecular methods, with subsequent genotyping of positive samples. Results. At least 1 of the tested viruses was detected in 226 (39.4%) of the 574 selected samples. Specifically, adenovirus, sapovirus, and astrovirus were detected in 30.7%, 5.6%, and 3.1% of the samples, respectively. The most frequent viruses detected were adenovirus 41, sapoviruses GI.1 and GI.2, and astrovirus 1. Non-classic astroviruses were detected in 2 samples. Conclusions. Despite being less frequent, these enteropathogens are responsible for a large number of sporadic diarrhea events. Therefore, their study and surveillance contribute significantly to reduce the gap of undiagnosed cases.

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.

Vancomicina contra metronidazol en infección por Clostridioides difficile leve-moderada de manejo ambulatorio / Vancomycin or metronidazole in the outpatient treatment of mild-moderate Clostridioides difficile infection

INTRODUCCIÓN: En la diarrea asociada a Clostridioides dfficile (DACD) leve-moderada se recomienda tratar con vancomicina por sobre metronidazol, a pesar de su difícil acceso y poca evidencia en el medio ambulatorio. OBJETIVO: Comparar la tasa de cura clínica y recurrencia entre vancomicina y metronidazol en adultos chilenos con primer episodio leve-moderado de DACD de manejo ambulatorio. MÉTODOS: Cohorte retrospectiva entre enero 2015 y diciembre 2020 en centros de una red de salud universitaria de pacientes de ≥ 18 años con DACD tratados ambulatoriamente. RESULTADOS: Se obtuvieron 161 pacientes, 59% mujeres, edad promedio de 53 años (entre 18 y 94 años). De ellos, 109 (67,7%) usaron metronidazol y 52 (32,3%) vancomicina. En el análisis multivariado ajustado por edad y comorbilidades se obtuvo un OR 3,00 (IC 95% 1,12-9,59) para cura clínica y 0,27 (IC 95% 0,06-0,88) para recurrencia a ocho semanas, ambos a favor de vancomicina, sin diferencias en recurrencia a 12 meses, necesidad de hospitalización o mortalidad. CONCLUSIÓN: La terapia con vancomicina comparada contra metronidazol en el tratamiento ambulatorio de la infección leve-moderada por C. dfficile se asocia a mayor cura clínica y menor tasa de recurrencia a corto plazo, sin diferencias en desenlaces a largo plazo.

BACKGROUND: Recommended treatment against mild cases of Clostridioides difficile associated diarrhea is vancomycin despite the difficulties of access compared to metronidazole. AIM: To compare the effectiveness of vancomycin and metronidazole in Chilean adults with first mild-moderate episode of Clostridiodes difficile infection (CDI). METHODS: Retrospective cohort of patients with CDI between January 2015 and December 2020 treated in centers of a university health network. The patients were adults treated for C. difficile infection on an outpatient basis. Recurrent and severe cases were excluded. Outcomes included clinical cure and recurrence rate. RESULTS: Data from 161 patients was recovered. Fifty-nine percent were women and average age was 53 (18-94). One hundred and nine patients were treated with metronidazole (67.7%) and 52 (32.3%) used vancomycin. Multivariate analysis adjusted by age and comorbidities showed an Odds Ratio of 3.00 (IC 95% 1.12-9.59) for clinical cure and 0.27 (IC 95% 0.06-0.88) for 8-week recurrence rate, both in favor of vancomycin, without differences in 12-month recurrence rate, hospitalization rate nor mortality. CONCLUSIONS: Vancomycin is associated with better short-term outcomes in the treatment of outpatient mild-moderate first episode C. difficile infection, without differences in long term recurrence or mortality when compared with metronidazole.

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.

Colitis eosinofílica: una entidad aparte / Eosinophilic colitis: a separate entity

Eosinophilic colitis (EoC), a rare immune-mediated disease that is part of the eosinophilic gastrointestinal diseases, is characterized by the presence of an eosinophilic infiltrate in the colonic wall in symptomatic patients. Before considering the diagnosis of EoC, other diseases associated with colonic eosinophilia should be ruled out, such as parasitic infections, drugs, chronic immune-mediated diseases, and neoplasms. The symptoms of EoC are variable and non-specific, being abdominal pain and diarrhea the most common. Although systemic corticosteroids and budesonide have demonstrated their efficacy, these drugs have only been evaluated in case series studies and cli- nical case reports. Herein, we discuss the clinical strategy for diagnosis, therapy selection, and follow-up of EoC

La colitis eosinofílica (CEo), una enfermedad inmunomediada que forma parte de las enfermedades gastrointes- tinales eosinofílicas, se caracteriza por la presencia de infiltrado eosinofílico en la pared del colon en pacientes sintomáticos. Antes de plantear el diagnóstico de una CEo, otras enfermedades asociadas a una eosinofilia coló- nica, incluyendo infecciones parasitarias, fármacos, enfermedades crónicas inmunomediadas y neoplasias, deben ser descartadas. Los síntomas de la CEo son variables e inespecíficos, siendo el dolor abdominal y la diarrea los más frecuentes. Aunque los corticoides sistémicos y la budesonida han demostrado su eficacia, estos fármacos han sido evaluados solo en estudios de serie de casos y reportes de casos clínicos. En este artículo, discutimos la estrategia clínica para el diagnóstico, selección del tratamiento y el seguimiento de la CEo.

Detección molecular de patógenos en deposiciones en niños consultantes por diarrea aguda en Servicios de Urgencia / Molecular detection of pathogens in stool samples of children consulting for acute diarrhea in emergency services

INTRODUCCIÓN: La diarrea aguda continúa siendo una de las principales causas de morbilidad en niños; sin embargo, el diagnóstico etiológico presenta limitaciones dada la baja sensibilidad de los métodos tradicionales. OBJETIVO: Describir los microorganismos identificados en niños que acudieron al Servicio de Urgencia (SU) de un hospital universitario en Santiago, Chile, por diarrea aguda y a los que se le solicitó panel molecular gastrointestinal. MÉTODOS: Se revisaron fichas clínicas y resultados de panel gastrointestinal realizados entre junio de 2017 y marzo de 2020. RESULTADOS: Se incluyeron 198 pacientes, edad promedio de 54,5 meses y 60,6% (120/198) de sexo masculino. La positividad del panel fue de 78,8% (156/198) con 35,3% (55/156) de las muestras polimicrobianas. Se identificaron 229 microorganismos, de los cuales 72,9% (167/229) corresponden a bacterias, 25,8% (59/229) a virus y 1,3% (3/229) a parásitos. Destacaron Campylobacter spp. y Escherichia coli enteropatógena (ECEP) como las bacterias más frecuentemente identificadas. Los pacientes con detección de Campylobacter spp. presentaron con mayor frecuencia fiebre (p = 0,00). ECEP se aisló principalmente (82,5%) en muestras polimicrobianas. DISCUSIÓN: Los resultados enfatizan el potencial que poseen los estudios moleculares para mejorar el diagnóstico etiológico de la diarrea, pero a la vez llevan a cuestionar el rol patogénico de algunos microorganismos identificados.

BACKGROUND: Acute diarrhea continues to be one of the main causes of morbidity in children, however the etiologica diagnosis presents limitations given the low sensitivity of traditional methods. AIM: To describe the microorganisms identified in children who attended the emergency department (ED) in Santiago, Chile, due to acute diarrhea and to whom a gastrointestinal panel was requested as part of their study. MATERIAL AND METHODS: Clinical records and results of the gastrointestinal panel carried out between June 2017 and March 2020 were reviewed. RESULTS: 198 patients were included, the average age was 54.5 months and 60.6% (120/198) were males. Positivity was 78.8% (156/198) with 35.3% (55/156) of the samples being polymicrobial. 229 microorganisms were identified, of which 72.9% (167/229) corresponded to bacteria, 25.8% (59/229) to viruses, and 1.3% (3/229) to parasites. Campylobacter spp. and enteropathogenic Escherichia coli (EPEC) were the most frequently identified bacteria. Patients with detection of Campylobacter spp. presented a higher frequency of fever (p = 0.00). EPEC was isolated in 82.5% of the cases in polymicrobial samples. DISCUSSION: The results emphasize the potential of molecular studies to improve the etiological diagnosis of diarrhea and at the same time lead to question the pathogenic role of some microorganisms.

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.

Cross-sectional study of low anterior resection syndrome in patients who have survived more than 5 years after sphincter-preserving surgery for rectal cancer / 中华胃肠外科杂志

Objective: In this study, we aimed to investigate the prevalence of low anterior resection syndrome (LARS) in patients who had survived for more than 5 years after sphincter-preserving surgery for rectal cancer and to analyze its relationship with postoperative time. Methods: This was a single-center, retrospective, cross-sectional study. The study cohort comprised patients who had survived for at least 5 years (60 months) after undergoing sphincter- preserving radical resection of pathologically diagnosed rectal adenocarcinoma within 15 cm of the anal verge in the Department of Gastrointestinal Surgery, Peking University People's Hospital from January 2005 to May 2016. Patients who had undergone local resection, had permanent stomas, recurrent intestinal infection, local recurrence, history of previous anorectal surgery, or long- term preoperative defecation disorders were excluded. A LARS questionnaire was administered by telephone interview, points being allocated for incontinence for flatus (0-7 points), incontinence for liquid stools (0-3 points), frequency of bowel movements (0-5 points), clustering of stools (0-11 points), and urgency (0-16 points). The patients were allocated to three groups based on these scores: no LARS (0-20 points), minor LARS (21-29 points), and major LARS (30-42 points). The prevalence of LARS and major LARS in patients who had survived more than 5 years after surgery, correlation between postoperative time and LARS score, and whether postoperative time was a risk factor for major LARS and LARS symptoms were analyzed. Results: The median follow-up time of the 160 patients who completed the telephone interview was 97 (60-193) months; 81 (50.6%) of them had LARS, comprising 34 (21.3%) with minor LARS and 47 (29.4%) with major LARS. Spearman correlation analysis showed no significant correlation between LARS score and postoperative time (correlation coefficient α=-0.016, P=0.832). Multivariate analysis identified anastomotic height (RR=0.850, P=0.022) and radiotherapy (RR=5.760, P<0.001) as independent risk factors for major LARS; whereas the postoperative time was not a significant risk factor (RR=1.003, P=0.598). The postoperative time was also not associated with LARS score rank and frequency of bowel movements, clustering, or urgency (P>0.05). However, the rates of incontinence for flatus (3/31, P=0.003) and incontinence for liquid stools (8/31, P=0.005) were lower in patients who had survived more than 10 years after surgery. Conclusions: Patients with rectal cancer who have survived more than 5 years after sphincter-preserving surgery still have a high prevalence of LARS. We found no evidence of major LARS symptoms resolving over time.

Analysis of the characteristics of viral infections in children with diarrhea in Beijing from 2018 to 2022 / 中华预防医学杂志

Objective: To explore the characteristics of viral infections in children with diarrhea in Beijing from 2018 to 2022. Methods: Real-time PCR and enzyme-linked immunosorbent assay were used to detect viral nucleic acid of Norovirus (NoV), Sappovirus (SaV), Astrovirus (AstV), Enteric Adenovirus (AdV) or antigen of Rotavirus (RV) in 748 stool samples collected from Beijing Capital Institute of Pediatrics from January 2018 to December 2021. Subsequently, the reverse transcription PCR or PCR method was used to amplify the target gene of the positive samples after the initial screening, followed by sequencing, genotyping and evolution analysis, so as to obtain the characteristics of these viruses. Phylogenetic analysis was performed using Mega 6.0. Results: From 2018 to 2021, the overall detection rate of the above five common viruses was 37.6%(281/748)in children under 5 years old in Beijing. NoV, Enteric AdV and RV were still the top three diarrhea-related viruses, followed by AstV and SaV, accounting for 41.6%, 29.2%, 27.8%, 8.9% and 7.5%, respectively. The detection rate of co-infections with two or three diarrhea-related viruses was 4.7% (35/748). From the perspective of annual distribution, the detection rate of Enteric AdV was the highest in 2021, while NoV was predominant in the other 4 years. From the perspective of genetic characteristics, NoV was predominant by GⅡ.4, and after the first detection of GⅡ.4[P16] in 2020, it occupied the first two gene groups together with GⅡ.4[P31]. Although the predominant RV was G9P[8], the rare epidemic strain G8P[8] was first detected in 2021. The predominant genotypes of Enteric AdV and AstV were Ad41 and HAstV-1. SaV was sporadic spread with a low detection rate. Conclusion: Among the diarrhea-related viruses infected children under 5 years of age in Beijing, the predominant strains of NoV and RV have changed and new sub-genotypes have been detected for the first time, while the predominant strains of AstV and Enteric AdV are relatively stable.

Study on the features of Clostridioides difficile infection among diarrhea patients in Kunming from 2018 to 2020 / 中华流行病学杂志

Objective: We analyze the characteristics of Clostridioides difficile (C. difficile) infection among diarrhea patients in Kunming from 2018 to 2020 and provide evidence for follow-up surveillance and prevention. Methods: A total of 388 fecal samples of diarrhea patients from four sentinel hospitals in Yunnan Province from 2018 to 2020 were collected. Real-time quantitative PCR was used to detect the fecal toxin genes of C. difficile. The positive fecal samples isolated the bacteria, and isolates were identified by mass spectrometry. The genomic DNA of the strains was extracted for multi-locus sequence typing (MLST). The fecal toxin, strain isolation, and clinical patient characteristics, including co-infection with other pathogens, were analyzed. Results: Among the 388 fecal samples, 47 samples with positive reference genes of C. difficile were positive, with a total positive rate of 12.11%. There were 4 (8.51%) non-toxigenic and 43 (91.49%) toxigenic ones. A total of 18 strains C. difficile were isolated from 47 positive specimens, and the isolation rate of positive specimens was 38.30%. Among them, 14 strains were positive for tcdA, tcdB, tcdC, tcdR, and tcdE. All 18 strains of C. difficile were negative for binary toxins. The MLST results showed 10 sequence types (ST), including 5 strains of ST37, accounting for 27.78%; 2 strains of ST129, ST3, ST54, and ST2, respectively; and 1 strain of ST35, ST532, ST48, ST27, and ST39, respectively. Fecal toxin gene positive (tcdB+) results were statistically associated with the patient's age group and with or without fever before the visit; positive isolates were only statistically associated with the patient's age group. In addition, some C. difficile patients have co-infection with other diarrhea-related viruses. Conclusions: The infection of C. difficile in diarrhea patients in Kunming is mostly toxigenic strains, and the high diversity of strains was identified using the MLST method. Therefore, the surveillance and prevention of C. difficile should be strengthened.