Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.

Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea, woolly brittle hair, facial dysmorphic features and liver disease. We report the case of a 24-month-old girl who presented with chronic diarrhea since the neonatal period along with intrauterine growth restriction (IUGR), developmental delay, dysmorphic features, congenital heart defects, liver disease, and recurrent infections. The diagnosis was made through whole-exome sequencing analysis, which detected a homozygous variant (c.4070del, p.Pro1357Leufs*10) in the SKIC3 gene. The patient required parenteral nutrition and was hospitalized for the first 10 months of life and then discharged on PN after showing improvement. She remained stable on PN after discharge despite a few admissions for central line infections. Recent follow-up at the age of 2 years revealed that she was stable on long-term parenteral nutrition and that she had advanced chronic liver disease.

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

BACKGROUND: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. METHODS AND RESULTS: In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. CONCLUSIONS: We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.

Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.

Congenital diarrheas and enteropathies (CODE) are a group of rare, heterogenous, monogenic disorders that lead to chronic diarrhea in infancy. Definitive treatment is rarely available, and supportive treatment is the mainstay. Nutritional management in the form of either specialized formulas, restrictive diet, or parenteral nutrition support in CODE with poor enteral tolerance is the cornerstone of CODE treatment and long-term growth. The evidence to support the use of specific diet regimens and nutritional approaches in most CODE disorders is limited due to the rarity of these diseases and the scant published clinical experience. The goal of this review was to create a comprehensive guide for nutritional management in CODE, based on the currently available literature, disease mechanism, and the PediCODE group experience. Enteral diet management in CODE can be divided into 3 distinct conceptual frameworks: nutrient elimination, nutrient supplementation, and generalized nutrient restriction. Response to nutrient elimination or supplementation can lead to resolution or significant improvement in the chronic diarrhea of CODE and resumption of normal growth. This pattern can be seen in CODE due to carbohydrate malabsorption, defects in fat absorption, and occasionally in electrolyte transport defects. In contrast, general diet restriction is mainly supportive. However, occasionally it allows parenteral nutrition weaning or reduction over time, mainly in enteroendocrine defects and rarely in epithelial trafficking and polarity defects. Further research is required to better elucidate the role of diet in the treatment of CODE and the appropriate diet management for each disease.

Prevalence and factors associated with rotavirus diarrhea among children aged 3-24 months after the introduction of the vaccine at a referral hospital in Uganda: a cross-sectional study.

BACKGROUND: Rotavirus has a significant morbidity and mortality in children under two years. The burden of rotavirus diarrhea 4 years post introduction of rotavirus vaccine in Uganda is not well established. This study aimed to determine the prevalence, severity of dehydration and factors associated with rotavirus diarrhea among children aged 3 to 24 months after the introduction of the vaccine at Fort Portal Regional Referral hospital. METHODS: This was a cross-sectional hospital-based study in which children with acute watery diarrhea were included. A rectal tube was used to collect a stool sample for those unable to provide samples. Stool was tested for rotavirus using rapid immunochromatographic assay. Data was analysed using SPSS version 22 with logistic regression done to determine the factors. RESULTS: Out of 268 children with acute watery diarrhea, 133 (49.6%) were females. Rotavirus test was positive in 42 (15.7%), majority of whom had some dehydration 28(66.7%). The factors that were independently associated with rotavirus diarrhea were; age < 12 months (AOR = 8.87, P = 0.014), male gender (AOR = 0.08, P = 0.001), coming from a home with another person with diarrhea (AOR = 17.82, P = 0.001) or a home where the water source was a well (AOR = 50.17, P = 0.002). CONCLUSION: The prevalence of rotavirus diarrhea was three times less in the post rotavirus vaccination period compared to pre-rota vaccination period. Majority of the participants with rotavirus diarrhea had some dehydration. There is need for provision of safe water sources to all homes. Surveillance to determine the cause of the non rota diarrhea should be done.

Safety of direct oral provocation test to delabel reported mild beta-lactam allergy in infants

Background: Around 10% of people report a drug allergy and avoid some medications because of fear of allergic reactions. However, only after a proper diagnostic workup can some of these reactions be confirmed as allergic or nonallergic hypersensitivities. Beta-lactams (BLs) are the most common medication suspected of being involved in drug hypersensivity reactions (DHRs) in children. Recently, direct oral provocation tests (DPT) with BLs gained popularity within pediatric populations as a tool for delabeling children with suspected BL allergies. This study aimed to evaluate the safety of direct provocation tests in infants with mild cutaneous non-immediate reactions to BLs. Methods: The authors retrospectively analyzed the data of 151 infants between 2015 and 2022, referred for evaluating a suspected allergy to BLs that occurred before age 24 months. Results: The mean age of the children, including 55% male kids, at the suspected reaction was 15.9 months and the mean age at the time of the DPT was 39.6 months. In most cases, antibiotics were prescribed to treat common upper respiratory infections, such as acute otitis (54.3%) and acute tonsillitis (27.2%). Amoxicillin was considered the culprit drug in 62.9% of the cases, and the combination of amoxicillin–clavulanic acid in the case of 33.8% of children. The most frequent associated cutaneous clinical manifestations were maculopapular exanthema in 74.8% and delayed urticaria/angioedema in 25.2%. Of the 151 infants evaluated, parents of 149 infants agreed for a direct DPT, and only three had a positive test (2%). Symptoms resulting from the DPT were mild and easily treatable. Conclusions: A direct DPT without prior tests is a safe and effective procedure to delabel BL allergy, even in infants... (AU)

Duración de la diarrea aguda infecciosa con el uso de leche deslactosada vs leche con lactosa en la población pediátrica: Revisión sistemática / Duration of acute infectious diarrhea with the use of lactose-free milk vs. lactose-containing milk in the pediatric population: A systematic review

Introducción: La diarrea aguda es una entidad frecuente en pediatría, constituyendo una de las principales causas de mortalidad en países en desarrollo y en niños menores de cinco años. Si bien la alimentación representa uno de los pilares fundamentales en el tratamiento de la misma, no existe consenso entre los profesionales en cuanto a la indicación de leche deslactosada durante el curso del cuadro. Objetivos: Realizar una revisión sistemática para estudiar el impacto del consumo de leche deslactosada vs leche regular en la duración de la diarrea aguda infecciosa en niños. Materiales y métodos: Se realizó una revisión sistemática incluyendo artículos publicados desde el año 2008 al 2023, utilizando para la búsqueda las bases de datos PubMed, Lillacs, Cochrane Library y literatura gris. Se incluyeron estudios experimentales, observacionales, revisiones, guías de atención y metaanálisis, realizados en pacientes pediátricos sin patologías de base, cursando cuadro de diarrea aguda infecciosa, que compararan el uso de leche deslactosada frente a leche regular. Resultados: Se seleccionaron doce artículos. En 9 de ellos se constató una disminución en la duración de la diarrea en los pacientes que recibieron leche deslactosada con una diferencia de medias de 18 horas (en un rango entre 4 y 32.6 horas). No se reportaron diferencias estadísticamente significativas en la mortalidad entre el uso de una u otra fórmula láctea. En relación al uso de una u otra fórmula no se objetivaron variaciones en el peso estadísticamente significativas. La necesidad de hospitalización fue similar entre ambos grupos. Solo un artículo analizó la frecuencia o volumen de deposiciones sin encontrar diferencias significativas (AU)

Introduction:Acute diarrhea is frequent in pediatrics, and constitutes one of the main causes of mortality in developing countries and in children under five years of age. Although feeding is one of the fundamental pillars in the treatment of diarrhea, there is no consensus among professionals regarding the indication of lactose-free milk during the course of the symptoms. Objectives: To conduct a systematic review to study the impact of lactose-free milk vs. regular milk consumption on the duration of acute infectious diarrhea in children. Materials and methods: A systematic review was conducted including articles published between 2008 and 2023, using PubMed, Lillacs, Cochrane Library databases, and gray literature for the search. Experimental and observational studies, reviews, care guidelines and meta-analysis were included, conducted in pediatric patients without underlying diseases, with acute infectious diarrhea, comparing the use of lactose-free milk versus regular milk. Results: Twelve articles were selected. Nine of them showed a decrease in the duration of diarrhea in patients who received lactose-free milk with a mean difference of 18 hours (ranging from 4 to 32.6 hours). No statistically significant differences in mortality were reported between the use of one or the other milk formula. Regarding the use of one or the other formula, there were no statistically significant variations in weight. The need for hospital admission was similar between the two groups. Only one article analyzed stool frequency or volume with no significant differences (AU)

Gut microbiota and polycystic ovary syndrome, focus on genetic associations: a bidirectional Mendelian randomization study.

Background: The contribution of gut microbiota to the pathogenesis of polycystic ovary syndrome (PCOS) is controversial. The causal relationship to this question is worth an in-depth comprehensive of known single nucleotide polymorphisms associated with gut microbiota. Methods: We conducted bidirectional Mendelian randomization (MR) utilizing instrumental variables associated with gut microbiota (N = 18,340) from MiBioGen GWAS to assess their impact on PCOS risk in the FinnGen GWAS (27,943 PCOS cases and 162,936 controls). Two-sample MR using inverse variance weighting (IVW) was undertaken, followed by the weighted median, weighted mode, and MR-Egger regression. In a subsample, we replicated our findings using the meta-analysis PCOS consortium (10,074 cases and 103,164 controls) from European ancestry. Results: IVWMR results suggested that six gut microbiota were causally associated with PCOS features. After adjusting BMI, SHBG, fasting insulin, testosterone, and alcohol intake frequency, the effect sizes were significantly reduced. Reverse MR analysis revealed that the effects of PCOS features on 13 gut microbiota no longer remained significant after sensitivity analysis and Bonferroni corrections. MR replication analysis was consistent and the results suggest that gut microbiota was likely not an independent cause of PCOS. Conclusion: Our findings did not support the causal relationships between the gut microbiota and PCOS features at the genetic level. More comprehensive genome-wide association studies of the gut microbiota and PCOS are warranted to confirm their genetic relationship. Declaration: This study contains 3533 words, 0 tables, and six figures in the text as well as night supplementary files and 0 supplementary figures in the Supplementary material.

Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant.

An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed Escherichia coli sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea. Whole-exome sequencing revealed a pathogenic compound heterozygous mutation causing trichohepatoenteric syndrome. She succumbed to severe infections at 80 days of life. The condition is rare, and no established guidelines or specific treatments exist; the focus is to promote optimal growth through parenteral nutrition, elemental formula and infection control. Early suspicion and molecular genetic testing can help reduce the time to diagnosis, treatment and genetic counselling.

Long term outcomes in children with trichohepatoenteric syndrome.

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. Here, we report on the natural history of the disease for the largest UK cohort of patients with THES from 1996 to 2020. We systematically reviewed the clinical records and pathological specimens of patients diagnosed with THES managed in a single tertiary pediatric gastroenterology unit. Between 1996 and 2020, 13 patients (7 female and 6 male) were diagnosed with THES either by mutation analysis or by clinical phenotype. Two patients died from complications of infection. All patients received parenteral nutrition (PN) of which six patients were weaned off PN. All patients had gastrointestinal tract inflammation on endoscopy. Almost half of the cohort were diagnosed with monogenic inflammatory bowel disease (IBD) by the age of 11 years, confirmed by endoscopic and histological findings. Protracted diarrhea causing intestinal failure improves with time in all patients with THES, but monogenic IBD develops in later childhood that is refractory to conventional IBD treatments. Respiratory issues contribute to significant morbidity and mortality, and good respiratory care is crucial to prevent comorbidity.

Hospitalizaciones por diarrea con sangre en un centro pediátrico de referencia en Uruguay / Hospitalizations due to bloody diarrhea in a pediatric reference center in Uruguay / Internações por diarreia sanguinolenta em um centro de referência pediátrica no Uruguai

Introducción: La diarrea con sangre es un motivo frecuente de admisión hospitalaria en niños, con gastroenteritis aguda; en la mayoría de los casos se tratan de infecciones leves y autolimitadas, pero pueden producirse complicaciones graves. Objetivos: Describir la etiología y características clínico- evolutivas de los niños menores de 15 años hospitalizados por diarrea con sangre en el Hospital Pediátrico, Centro Hospitalario Pereira Rossell entre los años 2012- 2023. Materiales y métodos: Estudio retrospectivo mediante revisión de historias y registros de laboratorio. Variables: demográficas, estado nutricional, hidratación, motivos de hospitalización, ingreso unidades de cuidados intensivos (UCI), enteropatógenos, tratamientos, evolución. Resultados: Se incluyeron 229 niños, mediana de edad de 8 meses; sexo masculino 61%; eutróficos 88%, bien hidratados 55%, con comorbilidades 11%, prematurez 6,5%. El motivo de hospitalización fue diarrea con sangre/disentería sin otro síntoma 45%. Se solicitó coprovirológico/coprocultivo en 98% y detección por técnicas de ácidos nucleicos en materia fecal 5,2%. Se identificó al menos un agente patógeno en 34,3%: Shigella sp. 38%; Salmonella sp. 19,5%; coinfecciones en 12%. Se indicaron antibióticos a 86%; ceftriaxona 62%, azitromicina 35%. Ingresaron a UCI 6,5% (15), presentaron complicaciones 10/14, fallo renal agudo 5 y alteraciones del medio interno 3. La mayoría presentó buena evolución. Conclusiones: La diarrea con sangre/disentería continúa siendo una causa importante de hospitalización afectando en su mayoría a niños sanos menores de 5 años. Los patógenos detectados con mayor frecuencia fueron bacterias principalmente Shigella sp., Salmonella sp. y E coli diarreogénicas. Se reportó alta prescripción de antibióticos, cumpliendo en la mayoría de los casos con las recomendaciones.

Introduction: Bloody diarrhea is a common reason for hospital admission in children with acute gastroenteritis; In most cases these are mild and self-limiting infections, but serious complications can occur. Goals: To describe the etiology and clinical-evolutionary characteristics of children under 15 years of age hospitalized for bloody diarrhea at the Pediatric Hospital, Centro Hospitalario Pereira Rossell between the years 2012-2023. Materials and methods: Retrospective study through review of histories and laboratory records. Variables: demographics, nutritional status, hydration, reason for hospitalization, intensive care unit (ICU) admission, enteropathogens, treatments, evolution. Results: 229 children were included, median age 8 months; male sex 61%; eutrophic 88%, well hydrated 55%, with comorbidities 11%, prematurity 6.5%. The reason for hospitalization was bloody diarrhea/dysentery without other symptoms 45%. Coprovirological/coproculture was requested in 98% and detection by nucleic acid techniques in fecal matter was requested in 5,2%. At least one pathogenic agent was identified in 34,3%: Shigella sp. 38%; Salmonella sp 19,5%; coinfections in 12%. Antibiotics were indicated for 86%; ceftriaxone 62%, azithromycin 35%. Were admitted to the ICU 6,5% (15), 10/14 had complications, 5 had acute kidney failure and 3 had alterations in the internal environment. The majority had a good evolution. Conclusions: Bloody diarrhea/dysentery continues to be an important cause of hospitalization, affecting mostly healthy children under 5 years of age. The most frequently detected pathogens were bacteria, mainly Shigella sp., Salmonella sp. and diarrheagenic E coli. High prescription of antibiotics was reported, complying in most cases with the recommendations.

Introdução: A diarreia com sangue é um motivo comum de internação hospitalar em crianças com gastroenterite aguda; Na maioria dos casos, estas são infecções leves e autolimitadas, mas podem ocorrer complicações graves. Metas: Descrever a etiologia e as características clínico-evolutivas de crianças menores de 15 anos internadas por diarreia sanguinolenta no Hospital Pediátrico Centro Hospitalario Pereira Rossell entre os anos de 2012-2023. Materiais e métodos: Estudo retrospectivo por meio de revisão de histórias e registros laboratoriais. Variáveis: dados demográficos, estado nutricional, hidratação, motivo da internação, internação em unidade de terapia intensiva (UTI), enteropatógenos, tratamentos, evolução. Resultados: foram incluídas 229 crianças, mediana de idade 8 meses; sexo masculino 61%; eutrófico 88%, bem hidratado 55%, com comorbidades 11%, prematuridade 6,5%. O motivo da internação foi diarreia sanguinolenta/disenteria sem outros sintomas 45%. O estudo coprovirologico/coprocultivo foi solicitado em 98% e a detecção por técnicas de ácidos nucleicos em matéria fecal foi solicitada em 5,2%. Pelo menos um agente patogênico foi identificado em 34,3%: Shigella sp. 38%; Salmonella sp. 19,5%; coinfecções em 12%. Os antibióticos foram indicados para 86%; ceftriaxona 62%, azitromicina 35%. Foram internados em UTI 6,5% (15), 10/14 apresentaram complicações, 5 tiveram insuficiência renal aguda e 3 apresentaram alterações no meio interno, a maioria teve boa evolução. Conclusões: A diarreia/disenteria com sangue continua a ser uma causa importante de hospitalização, afetando sobretudo crianças saudáveis ​​com menos de 5 anos de idade. Os patógenos mais frequentemente detectados foram bactérias, principalmente Shigella sp., Salmonella sp. e E. coli diarreiogênica. Foi relatada elevada prescrição de antibióticos, cumprindo na maioria dos casos as recomendações.

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD). Patients with CODEs typically present with severe watery or occasionally bloody diarrhea, steatorrhea, dehydration, poor growth, and developmental delay. Therefore, it is crucial to thoroughly evaluate infants with diarrhea to rule out infectious, allergic, or anatomical causes before considering CODEs as the underlying etiology. Diagnostic investigations for CODEs encompass various modalities, including stool tests, blood tests, immunological studies, endoscopy and biopsies for histology and electron microscopy, and next-generation sequencing (NGS). NGS plays a pivotal role in identifying the genetic mutations responsible for CODEs. Treatment options for CODEs are limited, often relying on total parenteral nutrition for hydration and nutritional support. In severe cases, intestinal transplantation may be considered. The long-term prognosis varies among specific CODEs, with some patients experiencing ongoing intestinal failure and associated complications. In conclusion, the early recognition and accurate diagnosis of CODEs are of paramount importance for implementing appropriate management strategies. Further research and advancements in genetic testing hold promise for enhancing diagnostic accuracy and exploring potential targeted therapies for these rare genetic disorders.

Infecciones por Clostridioides difficile en pediatría. La visión del laboratorio a partir del diagnóstico microbiológico / Clostridioides difficile infections in pediatrics. The view of the laboratory based on microbiological diagnosis

La infección por Clostridioides difficile (ICD) es la principal responsable de diarreas nosocomiales en adultos. En los últimos años se registró un aumento en la incidencia de la ICD en la población adulta que, en cambio, no fue bien caracterizado en pediatría. El objetivo de este trabajo es analizar los datos resultantes del diagnóstico microbiológico de ICD en el Hospital de Pediatría "Prof. Dr. Juan P. Garrahan". Materiales y métodos: se realizó un estudio retrospectivo observacional descriptivo que abarcó desde el 01/01/2018 hasta el 31/12/2021. El diagnóstico se realizó mediante enzimoinmunoensayo para glutamato deshidrogenasa (GDH) y toxinas en materia fecal (MF). Cuando sólo se detectó GDH, se realizó un cultivo toxigénico (CT) de la MF para la detección de toxinas in vitro. Se registraron: edad, sexo y procedencia de los pacientes y recurrencias de las ICD. Se efectuaron estudios de sensibilidad de 387 cepas de C. difficile a metronidazol (MTZ) y vancomicina (VAN). Resultados: en 6632 muestras (1764 pacientes) se registraron 649 estudios positivos (9,8%) (139 pacientes), la mayoría correspondieron a pacientes internados en áreas no críticas. Edad promedio: 7 años (7 ± 4,7). Sexo: 55% masculino. Recurrencias: 62 (45%). Positivos detectados mediante CT: 43%. Sensibilidad antibiótica: 100% a MTZ y 99,7% a VAN. Conclusión: Nuestra población presenta un bajo porcentaje de positividad. Se destaca el rendimiento del CT que permitió el diagnóstico de más de un tercio de los casos. MTZ y VANCO tuvieron excelente actividad in vitro frente a C. difficile (AU)

Clostridioides difficile infection (CDI) is the main cause of nosocomial diarrhea in adults. In recent years there has been an increase in the incidence of CDI in the adult population; however, CDI has not been well characterized in pediatrics. The aim of this study was to analyze the data resulting from the microbiological diagnosis of CDI at Hospital de Pediatría Prof. Dr. Juan P. Garrahan. Materials and methods: a retrospective, observational and descriptive study was conducted from 01/01/2018 to 12/31/2021. Diagnosis was made using enzyme immunoassay for glutamate dehydrogenase (GDH) and toxins in stools. When only GDH was detected, toxigenic culture (TC) of stools was performed for in vitro toxin detection. The age, sex and origin of patients and CDI recurrences were recorded. Sensitivity studies of 387 strains of C. difficile to metronidazole (MTZ) and vancomycin (VAN) were performed. Results: In 6,632 samples (1,764 patients), 649 positive results (9.8%) were recorded (139 patients), most of which corresponded to patients hospitalized in noncritical areas. Mean age: 7 years (7 ± 4.7). Sex: 55% male. Recurrences: 62 (45%). TC-positive results: 43%. Antibiotic sensitivity: 100% to MTZ and 99.7% to VAN. Conclusion: A low percentage of positivity was found in our population. The performance of TC was outstanding, allowing for the diagnosis of more than one third of the cases. MTZ and VANCO had excellent in vitro activity against C. difficile (AU)

Severe Immune-Related Enteritis after In Utero Exposure to Pembrolizumab.

Immune checkpoint blockade has become standard treatment for many types of cancer. Such therapy is indicated most often in patients with advanced or metastatic disease but has been increasingly used as adjuvant therapy in those with early-stage disease. Adverse events include immune-related organ inflammation resembling autoimmune diseases. We describe a case of severe immune-related gastroenterocolitis in a 4-month-old infant who presented with intractable diarrhea and failure to thrive after in utero exposure to pembrolizumab. Known causes of the symptoms were ruled out, and the diagnosis of pembrolizumab-induced immune-related gastroenterocolitis was supported by the results of histopathological assays, immunophenotyping, and analysis of the level of antibodies against programmed cell death protein 1 (PD-1). The infant's condition was successfully treated with prednisolone and infliximab.

Analysis on the current situation of twin breastfeeding and its influencing factors.

Studies have found that exclusive breastfeeding can not only promote the growth and development of infants, but also increase the emotional communication between mothers and infants, and reduce the incidence of maternal breast diseases. To analysis the current situation and influencing factors of breastfeeding twins. A total of 420 twin mothers delivered in our hospital from January 2019 to December 2022 were selected to investigate the situation of breastfeeding within 6 months after delivery. An electronic questionnaire was conducted, and clinical information were collected. Univariate analysis and multivariate logistic regression analysis were applied to analyze the factors influencing exclusive breastfeeding. The rate of exclusive breastfeeding was 21.90%; in the exclusive breastfeeding group, the age <35 years old, bachelor degree or above, rural areas, no nipple depression or flat, no breast distension, no postpartum depression, adequate breast milk, participation in health education during pregnancy, husband support for breastfeeding, no infant feeding difficulties, infant diarrhea, lactose intolerance and return to milk were 96.74%, 53.26%, 65.22%, 80.43%, 76.09%, 80.43%, 73.91%, 63.04%, 69.57%, 71.74%, 65.22%, 70.65%, and 66.30%, respectively. It was significantly higher than that in the non-exclusive breastfeeding group (P < .05). The score of Edinburgh Postpartum Depression Scale (EPDS) was (8.08 ± 1.03) in the exclusive breastfeeding group, which was significantly lower than that in the non-exclusive breastfeeding group (P < .001), while the score of Perceived Social Support Scale (PSSS) was (67.32 ± 9.92), which was significantly higher than that in the non-exclusive breastfeeding one(P < .001). Logistic regression analysis showed that age, education level, nipple depression or flat, breast tenderness, postpartum depression, breast milk volume, health education training during pregnancy, husband support for breastfeeding, PSSS score, infant diarrhea, lactose intolerance, and delectation were the influencing factors of exclusive breastfeeding (P < .001). Our findings suggest that various factors were associated with a low rate of exclusive breastfeeding in twin births, such as age, educational level, and social support. Corresponding measures should be formulated for intervention to promote exclusive breastfeeding.

Quality of routine data for monitoring nutrition and diarrhoea indicators of children under 5 in Mozambique: an ecological study over a 5-year period

Undernutrition and diarrhoea have a high burden in children under 5 in low/middle-income countries. Having data-driven quality health services for these two diseases is key in order to address the high burden of diseases; therefore, health systems must provide data to monitor, manage, plan and decide on policies at all levels of health services....

Boletín epidemiológico 07 - 2022. Semana epidemiológica del 12 al 18 de febrero del 2023 / Epidemiological Bulletin 07 - 2022. Epidemiological week from February 12 to 18, 2023

La EDA es considerada una enfermedad de rezago y continúa siendo un problema de salud pública que afecta principalmente a los países en desarrollo y a todos los grupos de edad, particularmente en el grupo de niños menores de cinco años

MW Polyomavirus in diarrheal Italian infants.

BACKGROUND: MXPyV, like MWPyV, was identified in stool samples from children suffering diarrhea in Mexico. In this study, we used a home-made real time PCR to investigate the presence of this novel viruses in stool specimen collected from under-five-year-old children with gastroenteritis. METHODS: A total of 192 fecal specimens previously screened for RV, ADV, NoV, HPeV and SaV, were tested for MWPyV with Taqman real time PCR. RESULTS: The most detected virus was NoV GII (33.8%), followed by RV (21.3%), SaV (10.9%), HPeV (8%), NoV GI (6.7%) and Adv (1%). Real time PCR detected MWPyV in 1/192 (0.5%) patients. CONCLUSIONS: We detected MWPyV in 0.5% of fecal specimens collected from pediatric patients suffering gastroenteritis which is smaller than the previously reported in literature (4.4% in Australia and 12% Mexico).

Assessment of mothers' knowledge and use of oral rehydration therapy for diarrhoea in children under 5 years in Ife, Nigeria

Diarrhoeadisease is the second leading cause of death in children under 5 years old, and is responsible for killing about 300, 000 children annually in Nigeria. Oral rehydration therapy (ORT) is the preferred treatment for fluid and electrolyte losses due to diarrhoea in children with mild to moderate dehydration. This study aimed to assess the knowledge and use of ORT in the management of diarrhoea in children under 5 years at Seventh Day Adventist Hospital (SDAH, Ife).Method: A structured questionnaire was adopted for this study design and data was collected using a self-structured questionnaire both self-administered and interviewer administered.Results: Of 80 participants, 44 (55%) of the respondents had heard of ORT before this study, while 36 (45%) had not. 48 (60%) responded that they use oral rehydration solution while 32 (40%) of mothers said they had not used ORT. There was significant difference in both outcomes. The result revealed that there was significant difference in morbidity and mortality between mothers who use ORT and those who do not. But there was no significant difference between the knowledge of ORT compared with its use.Conclusion:Appropriate knowledge of the therapy will positively influence its use which will drastically prevent morbidity associated with diarrhoea as well as contain the incidence of mortality

Diagnóstico microbiológico de infección por Clostridioides difficile en épocas de COVID-19 en un hospital pediátrico de alta complejidad / Microbiological diagnosis of Clostridioides difficile infection in times of COVID-19 in a high complexity pediatric hospital

Resumen La infección por Clostridioides difficile (ICD) puede variar desde diarrea hasta megacolon tóxico. Los objetivos del trabajo fueron mostrar la variación en el número de casos diagnosticados de ICD en este laboratorio entre 2020, cuando comenzó la pandemia de COVID-19 y 2019 y 2021 y detallar los casos precedidos por la infección de SARS-CoV-2. El presente es un estudio retrospectivo observacional en el que se registraron el número total de muestras procesadas con sospecha de ICD y el de positivas y los antecedentes clínicos de pacientes con ICD hasta dos meses después de su diagnóstico de COVID-19. Durante 2020 se procesaron menos muestras que en 2019 y 2021; sin embargo, el porcentaje de positividad fue de 13,1%, 7,2% y 7,8%, respectivamente. Esto pudo deberse a mejoras en el criterio clínico al momento de seleccionar las muestras con sospecha de ICD.

Abstract Clostridioides difficile infection (CDI) can cause anything from diarrhea to toxic megacolon. The objectives of this study were: to show the variation in the number of diagnosed cases of CDI in this center, comparing 2020, when the COVID-19 pandemic began, with 2019 and 2021 and to detail cases preceded by SARS-CoV-2 infection. This is an observational retrospective study in which the total number of samples processed with suspected CDI were recorded. The positive ones and the clinical history of patients with a diagnosis of CDI up to two months after their diagnosis of SARS-CoV-2 infection were recorded as well. During 2020 a smaller number of samples were processed. However, during this year the percentage of positivity was 13.1% vs. 7,2% and 7.8% during 2019 and 2021, respectively. It is believed that this may have been due to improvements in clinical suspicion and sample selection for CDI diagnosis.

Resumo A infecção por Clostridioides difficile (ICD) pode causar desde diarreia até megacólon tóxico. Os objetivos desta apresentação foram: mostrar a variação do número de casos diagnosticados de ICD neste laboratório, entre 2020 quando começou a pandemia de COVID-19 e 2019 e 2021 e, detalhar os casos precedidos pela infecção por SARS-CoV-2. Esse estudo foi retrospectivo observacional e foram registrados: o número total de amostras processadas com suspeita de ICD e de amostras positivas e os antecedentes clínicos daqueles pacientes com diagnóstico de ICD até dois meses após o diagnóstico de COVID 19. Durante 2020, foram processadas menos amostras do que em 2019 e 2021; no entanto, o percentual de positividade foi de 13,1%, 7,2% e 7,8%, respectivamente. Isso pode ter sido resultado de melhorias no critério clínico na hora de selecionar as amostras com suspeita de ICD.