Development of an equation to predict delta bilirubin levels using machine learning.

OBJECTIVE: Delta bilirubin (albumin-covalently bound bilirubin) may provide important clinical utility in identifying impaired hepatic excretion of conjugated bilirubin, but it cannot be measured in real-time for diagnostic purposes in clinical laboratories. METHODS: A total of 210 samples were collected, and their delta bilirubin levels were measured four times using high-performance liquid chromatography. Data collected included age, sex, diagnosis code, delta bilirubin, total bilirubin, direct bilirubin, total protein, albumin, globulin, aspartate aminotransferase, alanine transaminase, alkaline phosphatase, gamma-glutamyl transferase, lactate dehydrogenase, hemoglobin, serum hemolysis value, hemolysis index, icterus value (Iv), icterus index (Ii), lipemia value (Lv), and lipemia index. To conduct feature selection and identify the optimal combination of variables, linear regression machine learning was performed 1,000 times. RESULTS: The selected variables were total bilirubin, direct bilirubin, total protein, albumin, hemoglobin, Iv, Ii, and Lv. The best predictive performance for high delta bilirubin concentrations was achieved with the combination of albumin-direct bilirubin-hemoglobin-Iv-Lv. The final equation composed of these variables was as follows: delta bilirubin = 0.35 × Iv + 0.05 × Lv - 0.23 × direct bilirubin - 0.05 × hemoglobin - 0.04 × albumin + 0.10. CONCLUSION: The equation established in this study is practical and can be easily applied in real-time in clinical laboratories.

Pediatric reference values of NT-proBNP and Galectin-3 based on a French cohort.

BACKGROUND: In pediatric cardiology, the fact that some new biomarkers have assay-specific normal values has to be considered for correct clinical decisions. The current study aimed to provide age-adjusted normative values for NT-proBNP and Galectin-3 using the Abbott immunoassay system from a prospective French pediatric cohort sera collection and to validate our data for NT-proBNP on a second retrospective cohort. METHODS: We analyzed 283 consecutive samples for NT-proBNP and 140 samples for Galectin-3 collected from apparently healthy children (0-18 years) with outpatient treatment at our institution (Hôpital Necker-Enfants malades, Paris, France) during 24 months. RESULTS: For NT-proBNP and Galectin-3, we establish four age partitions, respectively two (<2 years / >2 years) and establish upper reference values and their 90 % CI for each biomarker (Galectin-3 (ng/mL): 56 [44-70] / 26 [23-29]). We evaluated the diagnostic performance of our upper reference values of NT-proBNP on a retrospective cohort (n = 428) with positive predictive value of 0.92. CONCLUSIONS: Using Abbott immunoassay system, we report age-specific reference values for NT-proBNP and for the first time for Galectin-3 in a healthy French pediatric cohort. These data call for larger cohort studies to define more robustly percentiles and diagnostic performance for NT-proBNP.

Segregación escolar del alumnado con necesidades educativas especiales en Educación Infantil en el contexto local / School segregation of students with special educational needs in Early Childhood Education in the local context

Esta investigación busca profundizar en la segregación escolar del alumnado con necesidades educativas especiales del segundo ciclo de Educación Infantil estimando su magnitud, determinando la incidencia de la titularidad del centro y de su adscripción al Programa Bilingüe y describiendo su evolución. Para ello, se realiza un estudio ex post facto con datos de los 10.182 estudiantes del segundo ciclo de Educación Infantil matriculados en alguno de los 77 centros ordinarios públicos y privados-concertados situados en dos ciudades de tamaño medio-grande de la Comunidad de Madrid. Los resultados indican que la magnitud de la segregación escolar está en torno al 0.20 (ISG); que la incidencia de la titularidad es baja (4.6 %), pero es alta la del Programa Bilingüe (17.2 % de promedio); y que la segregación ha descendido ligeramente en los últimos años, pero las diferencias entre centros atendiendo a su titularidad y adscripción al Programa Bilingüe han crecido. Con ello, se concluye que hay que prestar atención a la segregación en Educación Infantil y tomar medidas para combatirla. También se destaca la necesidad de replantear el Programa Bilingüe por su incidencia en la segregación escolar. (AU)

This research aims to explore the school segregation of students with special educational needs in the second cycle of Early Childhood Education by estimating its magnitude, determining the incidence of school ownership and affiliation to the Bilingual Program, and describing its evolution. To achieve this, we conduct an ex post facto study with data from the 10,182 students enrolled in one of the 77 public and private-subsidised schools in the Community of Madrid. The results indicate that the magnitude of school segregation is around 0.20 (ISG); that the incidence of school ownership is low (4.6 %), while the incidence of the Bilingual Program is high (17.2 % on average); and that segregation has slightly decreased in recent years, however the differences between schools based on ownership and affiliation to the Bilingual Program have increased. Therefore, we conclude that it is necessary to address segregation in Early Childhood Education and that measures need to be taken to combat it. We also highlight the importance of reconsidering the Bilingual Program due to its impact on school segregation. (AU)

Desarrollo de la comprensión emocional. ¿Qué tipo de tecnología para qué alumno con trastorno del espectro autista? Revisión sistemática / Development of emotional understanding. What type of technology for which student with autism spectrum disorder? Systematic review

La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)

The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)

Segregación escolar del alumnado con necesidades educativas especiales en Educación Infantil en el contexto local / School segregation of students with special educational needs in Early Childhood Education in the local context

Esta investigación busca profundizar en la segregación escolar del alumnado con necesidades educativas especiales del segundo ciclo de Educación Infantil estimando su magnitud, determinando la incidencia de la titularidad del centro y de su adscripción al Programa Bilingüe y describiendo su evolución. Para ello, se realiza un estudio ex post facto con datos de los 10.182 estudiantes del segundo ciclo de Educación Infantil matriculados en alguno de los 77 centros ordinarios públicos y privados-concertados situados en dos ciudades de tamaño medio-grande de la Comunidad de Madrid. Los resultados indican que la magnitud de la segregación escolar está en torno al 0.20 (ISG); que la incidencia de la titularidad es baja (4.6 %), pero es alta la del Programa Bilingüe (17.2 % de promedio); y que la segregación ha descendido ligeramente en los últimos años, pero las diferencias entre centros atendiendo a su titularidad y adscripción al Programa Bilingüe han crecido. Con ello, se concluye que hay que prestar atención a la segregación en Educación Infantil y tomar medidas para combatirla. También se destaca la necesidad de replantear el Programa Bilingüe por su incidencia en la segregación escolar. (AU)

This research aims to explore the school segregation of students with special educational needs in the second cycle of Early Childhood Education by estimating its magnitude, determining the incidence of school ownership and affiliation to the Bilingual Program, and describing its evolution. To achieve this, we conduct an ex post facto study with data from the 10,182 students enrolled in one of the 77 public and private-subsidised schools in the Community of Madrid. The results indicate that the magnitude of school segregation is around 0.20 (ISG); that the incidence of school ownership is low (4.6 %), while the incidence of the Bilingual Program is high (17.2 % on average); and that segregation has slightly decreased in recent years, however the differences between schools based on ownership and affiliation to the Bilingual Program have increased. Therefore, we conclude that it is necessary to address segregation in Early Childhood Education and that measures need to be taken to combat it. We also highlight the importance of reconsidering the Bilingual Program due to its impact on school segregation. (AU)

Desarrollo de la comprensión emocional. ¿Qué tipo de tecnología para qué alumno con trastorno del espectro autista? Revisión sistemática / Development of emotional understanding. What type of technology for which student with autism spectrum disorder? Systematic review

La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)

The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)

Perspectivas dos pais acerca da interação socialde crianças com cicatrizes de queimaduras / Parents' perspectives on the social interactionof children with burn scars

As queimaduras provocam efeitos físicos e psicológicos devastadores nos indivíduos, sobretudo em crianças e adolescentes, e podem modificar a qualidade de vida da pessoa. O objetivo foi analisar o impacto das cicatrizes por queimaduras em crianças menores de oito anos na interação com amigos, família e escola, na perspectiva dos pais. Estudo quantitativo de corte transversal realizado com os pais de crianças <8 anos de idade, vítimas de queimaduras e internadas em um Centro de Tratamento de Queimados no norte do Paraná e acompanhadas ambulatorialmente, de 2017 a 2020. A coleta de dados ocorreu por meio de dois instrumentos: caracterização sociodemográfica e clínica; e Brisbane Burn Scar Impact Profile. Realizou-se análise descritiva e teste Qui-quadrado utilizando-se o SPSS®. Participaram 34 pais cujas crianças sofreram queimaduras, sendo 52,9% de 1 a 3 anos de idade, 58,8% sexo masculino, 82,2% por agente etiológico térmico e a internação foi de 73,5% devido à Superfície Corpórea Queimada ≤20%. Após a alta os pais identificaram que as cicatrizes de queimaduras tinham "um pouco" e "pouco" impacto nas cicatrizes nas relações de amizade e na interação social. Para os pais, prevaleceu a resposta "nada" de impacto, seguido por "um pouco" e "muito" na escola, nas brincadeiras, nos jogos e nas atividades diárias. Quanto às reações emocionais e ao humor, a maior parte dos pais considerou "nada". Nesse sentido, os pais responderam às questões quanto à própria percepção sobre as atividades diárias do seu filho e, em geral, a cicatriz de queimadura não impactou na qualidade de vida da criança.

Burns cause devastating physical and psychological effects on individuals, especially children and adolescents, and can change a person's quality of life. The objective was to analyze the impact of burn scars in children under eight years of age in the interaction with friends, family and school, from the parents' perspective. Quantitative cross-sectional study carried out with the parents of children <8 years old who were victims of burns and admitted to a Burn Treatment Center in northern Paraná and monitored on an outpatient basis, from 2017 to 2020. Data collection occurred using two instruments: sociodemographic and clinical characterization; Brisbane Burn Scar Impact Profile. Descriptive analysis and Chi-square test were performed using SPSS®. 34 parents participated whose children suffered burns, 52.9% aged 1 to 3 years old, 58.8% male, 82.2% due to thermal etiological agent and 73.5% hospitalization was due to Burned Body Surface ≤ 20%. After discharge, the parents identified that the burn scars had "a little" and "little" impact on the scars in friendship relationships and social interaction. For parents, the answer "nothing" of impact prevailed, followed by "a little" and "a lot" in school, play, games and daily activities. As for emotional reactions and mood, most parents considered "nothing" that impacted the child with burn scars. In this sense, parents answered questions regarding their own perception of their child's daily activities and, in general, the burn scar did not impact the child's quality of life.

Ingestão de açúcar por crianças com dificuldades alimentares menores de 2 anos - estudo em um centro de referência brasileiro / Sugar intake by children with eating difficulties under2 years of age - study in a Brazilian reference center

Introdução: os primeiros anos de vida são essenciais para o crescimento e o desenvolvimento. A criança já nasce com a preferência pelo sabor doce, e ao consumir preparações açucaradas, propicia--se uma alimentação de baixa qualidade nutricional. O objetivo do estudo é descrever a ingestão de alimentos que contenham açúcar por crianças com dificuldades alimentares menores de 2 anos atendidas em um centro especializado. Material e métodos: trata-se de um estudo observacional retrospectivo, com dados obtidos do prontuário de crianças de ambos os sexos, atendidas no Centro de Excelência em Nutrição e Dificuldades Alimentares (CENDA), localizado no município de São Paulo. Dentre os alimentos consumidos foram selecionados aqueles que continham açúcar de adição em sua composição. Para categorizar os alimentos foi usada a classificação da What We Eat in America (WWEIA). Resultados: participaram do estudo 31 crianças com dificuldades alimentares, 77,4% apresentaram consumo de pelo menos um alimento contendo açúcar. Os alimentos mais consumidos foram biscoitos e brownies, bolos e tortas, milk-shakes e outras bebidas lácteas. Discussões e Conclusão: a fase de alimentação complementar pode se tornar um grande desafio para os pais e cuidadores, a mesma foi o ponto de partida para a maioria das crianças com dificuldade alimentares. O aprendizado do comer é um processo complexo que exige aquisição de habilidades na oferta de alimentos adequados e variados, contudo, o contexto se torna favorável com as práticas inadequadas, sendo uma delas a permissão do consumo de alimentos e produtos adoçados pelas mesmas.

Introduction: the first years of life are essential for growth and development. Children are born with a preference for sweet tastes, and through sugary consumption, they are provided with a diet of low nutritional quality. The objective of the study is to describe the intake of foods containing sugar by children with eating difficulties under 2 years of age treated in a specialized center. Material and methods: this is a retrospective observational study, with data obtained from the medical records of children of both sexes, attended at the Center for Excellence in Nutrition and Eating Difficulties (CENDA), located in the city of São Paulo. Among the foods consumed, those that contained added sugar in their composition were selected. To categorize foods, the What We Eat in America (WWEIA) classification was used. Results: 31 children with eating difficulties participated in the study, 77.4% consumed at least one food containing sugar. The most consumed foods were cookies and brownies, cakes and pies, milkshakes and other dairy drinks. Discussions and Conclusion: the complementary feeding phase can become a great challenge for parents and caregivers, as it was the starting point for the majority of children with eating difficulties. Learning to eat is a complex process that requires the acquisition of skills in offering adequate and varied foods. However, the context becomes favorable to inappropriate practices, one of which is allowing the consumption of sweetened foods and products, for the same reasons.

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs. The cohort underwent whole exome sequencing (WES) and clinical exome sequencing (CES). Using GATK-gCNV, we identified 12 pathogenic CNVs that correlated with their clinical findings and resulting in a diagnostic yield of 2.67%. Importantly, the study emphasizes the role of CNVs in the etiology of Mendelian disorders and highlights the value of exome sequencing-based CNV analysis in routine diagnostic processes.

Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.

BACKGROUND: Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available. METHODS: This study reported the genetic and clinical characteristics of 10 ST-1 patients from southeastern China. A haplotype analysis was performed using 21 single nucleotide polymorphism (SNP) markers of 500 kb flanking the recurrent c.544 A > G in 8 families harboring the mutation. Furthermore, this study summarized and compared previously reported ST-1 patients from Taiwan and mainland China. RESULTS: Five mutations within NEU1 were found, including two novel ones c.557 A > G and c.799 C > T. The c.544 A > G mutation was most frequent and identified in 9 patients, 6 patients were homozygous for c.544 A > G. Haplotype analysis revealed a shared haplotype surrounding c.544 A > G was identified, suggesting a founder effect presenting in southeast Chinese population. Through detailed assessment, 52 ST-1 patients from 45 families from Taiwan and mainland China were included. Homozygous c.544 A > G was the most common genotype and found in 42.2% of the families, followed by the c.544 A > G/c.239 C > T compound genotype, which was observed in 22.2% of the families. ST-1 patients with the homozygous c.544 A > G mutation developed the disease at a later age and had a lower incidence of cherry-red spots significantly. CONCLUSION: The results contribute to gaps in the clinical and genetic features of ST-1 patients in southeastern mainland China and provide a deeper understanding of this disease to reduce misdiagnosis.

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental delay, intellectual disability, speech impairment, autism spectrum disorder, and hypotonia; other variable features include epilepsy, brain and renal malformations, and mild dysmorphic features. Here, we conducted genotype-phenotype correlation analyses using the PMS International Registry, a family-driven registry that compiles clinical data in the form of family-reported outcomes and family-sourced genetic test results. METHODS: Data from the registry were harmonized and integrated into the i2b2/tranSMART clinical and genomics data warehouse. We gathered information from 401 individuals with 22q13 deletions including SHANK3 (n = 350, ranging in size from 10 kb to 9.1 Mb) or pathogenic or likely pathogenic SHANK3 sequence variants (n = 51), and used regression models with deletion size as a potential predictor of clinical outcomes for 328 phenotypes. RESULTS: Our results showed that increased deletion size was significantly associated with delay in gross and fine motor acquisitions, a spectrum of conditions related to poor muscle tone, renal malformations, mild dysmorphic features (e.g., large fleshy hands, sacral dimple, dysplastic toenails, supernumerary teeth), lymphedema, congenital heart defects, and more frequent neuroimaging abnormalities and infections. These findings indicate that genes upstream of SHANK3 also contribute to some of the manifestations of PMS in individuals with larger deletions. We also showed that self-help skills, verbal ability and a range of psychiatric diagnoses (e.g., autism, ADHD, anxiety disorder) were more common among individuals with smaller deletions and SHANK3 variants. LIMITATIONS: Some participants were tested with targeted 22q microarrays rather than genome-wide arrays, and karyotypes were unavailable in many cases, thus precluding the analysis of the effect of other copy number variants or chromosomal rearrangements on the phenotype. CONCLUSIONS: This is the largest reported case series of individuals with PMS. Overall, we demonstrate the feasibility of using data from a family-sourced registry to conduct genotype-phenotype analyses in rare genetic disorders. We replicate and strengthen previous findings, and reveal novel associations between larger 22q13 deletions and congenital heart defects, neuroimaging abnormalities and recurrent infections.

Does younger children's social health insurance alleviate household impoverishment due to illness?

BACKGROUND: The ambitious expansion of social health insurance in China has played a crucial role in preventing and alleviating poverty caused by illness. However, there is no government-sponsored health insurance program specifically for younger children and inequities are more pronounced in healthcare utilization, medical expenditure, and satisfaction in some households with severely ill children. This study assessed the effectiveness of child health insurance in terms of alleviating poverty caused by illness. METHODS: Data were collected from two rounds of follow-up surveys using the China Family Panel Studies 2016 and 2018 child questionnaires to investigate the relationship between child health insurance and household medical impoverishment (MI). Impoverishing health expenditure (IHE) and catastrophic health expenditure (CHE) were measured to quantify "poverty due to illness" in terms of absolute and relative poverty, respectively. Propensity score matching with the difference-in-differences (PSM-DID) method, robustness tests, and heterogeneity analysis were conducted to address endogeneity issues. RESULTS: Social health insurance for children significantly reduced household impoverishment due to illness. Under the shock of illness, the incidences of IHE and CHE were significantly lower in households with insured children. The poverty alleviation mechanism transmitted by children enrolled in social health insurance was primarily driven by hospitalization reimbursements and the proportion of out-of-pocket medical payments among the total medical expenditure for children. CONCLUSIONS: Children's possession of social health insurance significantly reduced the likelihood of household poverty due to illness. The poverty-reducing effect of social medical insurance is most significant in rural areas, low-income families, no-left-behind children, and infants. Targeted poverty alleviation strategies for marginalized groups and areas would ensure the equity and efficiency of health system reforms, contributing to the goal of universal health insurance coverage in China.

Frequency and genotyping of group A rotavirus among Egyptian children with acute gastroenteritis: a hospital-based cross-sectional study.

BACKGROUND: This hospital-based cross-sectional study aims to investigate the epidemiologic and clinical characteristics of rotavirus group A (RVA) infection among children with acute gastroenteritis and to detect the most common G and P genotypes in Egypt. METHODS: A total of 92 stool samples were collected from children under five who were diagnosed with acute gastroenteritis. RVA in stool samples was identified using ELISA and nested RT-PCR. Common G and P genotypes were identified utilizing multiplex nested RT-PCR assays. RESULTS: RVA was detected at a rate of 24% (22 /92) using ELISA and 26.1% (24 /92) using VP6 nested RT-PCR. The ELISA test demonstrated diagnostic sensitivity, specificity, and accuracy of 91.7%, 100%, and 97.8%, respectively. G3 was the most prevalent G type (37.5%), followed by G1 (12.5%), whereas the most commonly detected P type were P[8] (41.7%) and P[6] (8.2%). RVA-positive samples were significantly associated with younger aged children (p = 0.026), and bottle-fed (p = 0.033) children. In addition, RVA-positive samples were more common during cooler seasons (p = 0.0001). Children with rotaviral gastroenteritis had significantly more frequent episodes of diarrhea (10.87 ± 3.63 times/day) and vomiting (8.79 ± 3.57 times/day) per day (p = 0.013 and p = 0.011, respectively). Moreover, they had a more severe Vesikari clinical score (p = 0.049). CONCLUSION: RVA is a prevalent cause of acute gastroenteritis among Egyptian children in our locality. The discovery of various RVA genotypes in the local population, as well as the identification of common G and P untypeable strains, highlights the significance of implementing the rotavirus vaccine in Egyptian national immunization programs accompanied by continuous monitoring of strains.

The epidemiology and outcomes of hospitalized drowning in Thai children: a national data analysis 2015-2019.

BACKGROUND: Drowning remains a common cause of death among children. However, the epidemiology and impact of drowning in Thailand was underexplored. This study aimed to analyze the epidemiology and clinical outcomes of pediatric drowning in Thailand and to determine the factors associated with the need for intubation and mortality. METHODS: Data derived from the Thai healthcare delivery system for the period between 2015 and 2019 were used to examine the monthly admissions, mortality rates, length of hospital stay, and the number of patients who received endotracheal intubation. Multivariate logistic regression analysis was employed to identify the risk factors associated with the need for intubation and mortality. RESULTS: Of the 4,911, 58.8% were under six years old, 63.5% were male, and 31.2% were from the Northeastern region. The majority drowned during April, which is the summer season in Thailand. Among these patients, 28.8% required intubation, with the highest proportion found in the 6-<12 years age group (35.9%). The independent risk factors for intubation were metabolic acidosis (adjusted odd ratio [aOR] 9.74; 95% confidence interval [CI] 7.14-13.29; p < 0.001) and pulmonary edema (aOR 5.82; 95%CI 3.92-8.65; p < 0.001). The overall mortality rate due to drowning was 12.6%. Factors significantly associated with mortality included in-hospital cardiac arrest (aOR 4.43; 95%CI 2.78-7.06; p < 0.001), and the presence of drowning-related complications, particularly renal failure (aOR 7.13; 95%CI 3.93-12.94; p < 0.001). CONCLUSION: Drowning admissions and mortality were highest among male children under six years old, occurring mainly during the summer season. Significant factors associated with intubation requirement included metabolic acidosis and pulmonary edema. The mortality was significantly associated with in-hospital cardiac arrest and drowning-related complications, particularly renal failure. TRIAL REGISTRATION: This is an observational study, does not include any intervention, and has therefore not been registered.

A 3D approach to understanding heterogeneity in early developing autisms.

BACKGROUND: Phenotypic heterogeneity in early language, intellectual, motor, and adaptive functioning (LIMA) features are amongst the most striking features that distinguish different types of autistic individuals. Yet the current diagnostic criteria uses a single label of autism and implicitly emphasizes what individuals have in common as core social-communicative and restricted repetitive behavior difficulties. Subtype labels based on the non-core LIMA features may help to more meaningfully distinguish types of autisms with differing developmental paths and differential underlying biology. METHODS: Unsupervised data-driven subtypes were identified using stability-based relative clustering validation on publicly available Mullen Scales of Early Learning (MSEL) and Vineland Adaptive Behavior Scales (VABS) data (n = 615; age = 24-68 months) from the National Institute of Mental Health Data Archive (NDA). Differential developmental trajectories between subtypes were tested on longitudinal data from NDA and from an independent in-house dataset from UCSD. A subset of the UCSD dataset was also tested for subtype differences in functional and structural neuroimaging phenotypes and relationships with blood gene expression. The current subtyping model was also compared to early language outcome subtypes derived from past work. RESULTS: Two autism subtypes can be identified based on early phenotypic LIMA features. These data-driven subtypes are robust in the population and can be identified in independent data with 98% accuracy. The subtypes can be described as Type I versus Type II autisms differentiated by relatively high versus low scores on LIMA features. These two types of autisms are also distinguished by different developmental trajectories over the first decade of life. Finally, these two types of autisms reveal striking differences in functional and structural neuroimaging phenotypes and their relationships with gene expression and may highlight unique biological mechanisms. LIMITATIONS: Sample sizes for the neuroimaging and gene expression dataset are relatively small and require further independent replication. The current work is also limited to subtyping based on MSEL and VABS phenotypic measures. CONCLUSIONS: This work emphasizes the potential importance of stratifying autism by a Type I versus Type II distinction focused on LIMA features and which may be of high prognostic and biological significance.

Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression.

AIMS: Previous proteomics studies in dysferlinopathy muscle have been limited in scope, often utilizing 2D-electrophoresis and yielding only a small number of differential expression calls. To address this gap, this study aimed to employ high-resolution proteomics to explore the proteomic landscapes of dysferlinopathy and analyze the correlation between muscle pathological changes and alterations in protein expression in muscle biopsies. METHODS: We conducted a comprehensive approach to investigate the proteomic profile and disease-associated changes in the muscle tissue proteome from 15 patients with dysferlinopathy, exhibiting varying degrees of dystrophic pathology, alongside age-matched controls. Our methodology encompasses tandem mass tag (TMT)-labeled liquid chromatography-mass spectrometry (LC-MS/MS)-based proteomics, protein-protein interaction (PPI) network analysis, weighted gene co-expression network analysis, and differential expression analysis. Subsequently, we examined the correlation between the expression of key proteins and the clinical characteristics of the patients to identify pathogenic targets associated with DYSF mutations in dysferlinopathy. RESULTS: A total of 1600 differentially expressed proteins were identified, with 1321 showing high expression levels and 279 expressed at lower levels. Our investigation yields a molecular profile delineating the altered protein networks in dysferlinopathy-afflicted skeletal muscle, uncovering dysregulation across numerous cellular pathways and molecular processes, including mRNA metabolic processes, regulated exocytosis, immune response, muscle system processes, energy metabolic processes, and calcium transmembrane transport. Moreover, we observe significant associations between the protein expression of ANXA1, ANXA2, ANXA4, ANXA5, LMNA, PYGM, and the extent of histopathologic changes in muscle biopsies from patients with dysferlinopathy, validated through immunoblotting and immunofluorescence assays. CONCLUSIONS: Through the aggregation of expression data from dysferlinopathy-impacted muscles exhibiting a range of pathological alterations, we identified multiple key proteins associated with the dystrophic pathology of patients with dysferlinopathy. These findings provide novel insights into the pathogenesis of dysferlinopathy and propose promising targets for future therapeutic endeavors.

Human leukocyte antigen compatibility and incidence of donor-specific antibodies in pediatric liver transplant recipients.

BACKGROUND: Antibody-mediated rejection following liver transplantation (LT) has been increasingly recognized, particularly with respect to the emergence of de novo donor-specific antibodies (DSAs) and their impact on graft longevity. While substantial evidence for adult populations exists, research focusing on pediatric LT outcomes remains limited. AIM: To investigate the prevalence of human leukocyte antigen (HLA) mismatches and DSA and evaluate their association with rejection episodes after pediatric LT. METHODS: A cohort of pediatric LT recipients underwent HLA testing at Santa Casa de Porto Alegre, Brazil, between December 2013 and December 2023. Only patients who survived for > 30 days after LT with at least one DSA analysis were included. DSA classes I and II and cross-matches were analyzed. The presence of de novo DSA (dnDSA) was evaluated at least 3 months after LT using the Luminex® single antigen bead method, with a positive reaction threshold set at 1000 MFI. Rejection episodes were confirmed by liver biopsy. RESULTS: Overall, 67 transplanted children were analyzed; 61 received grafts from living donors, 85% of whom were related to recipients. Pre-transplant DSA (class I or II) was detected in 28.3% of patients, and dnDSA was detected in 48.4%. The median time to DSA detection after LT was 19.7 [interquartile range (IQR): 4.3-35.6] months. Biopsy-proven rejection occurred in 13 patients at follow-up, with C4d positivity observed in 5/13 Liver biopsies. The median time to rejection was 7.8 (IQR: 5.7-12.8) months. The presence of dnDSA was significantly associated with rejection (36% vs 3%, P < 0.001). The rejection-free survival rates at 12 and 24 months were 76% vs 100% and 58% vs 95% for patients with dnDSA anti-DQ vs those without, respectively. CONCLUSION: Our findings highlight the importance of incorporating DSA assessment into pre- and post-transplantation protocols for pediatric LT recipients. Future implications may include immunosuppression minimization strategies based on this analysis in pediatric LT recipients.

Analyzing the seasonality of tuberculosis case notifications in the UK, 2000-2018.

Globally, there is seasonal variation in tuberculosis (TB) incidence, yet the biological and behavioural or social factors driving TB seasonality differ across countries. Understanding season-specific risk factors that may be specific to the UK could help shape future decision-making for TB control. We conducted a time-series analysis using data from 152,424 UK TB notifications between 2000 and 2018. Notifications were aggregated by year, month, and socio-demographic covariates, and negative binomial regression models fitted to the aggregate data. For each covariate, we calculated the size of the seasonal effect as the incidence risk ratio (IRR) for the peak versus the trough months within the year and the timing of the peak, whilst accounting for the overall trend. There was strong evidence for seasonality (p < 0.0001) with an IRR of 1.27 (95% CI 1.23-1.30). The peak was estimated to occur at the beginning of May. Significant differences in seasonal amplitude were identified across age groups, ethnicity, site of disease, latitude and, for those born abroad, time since entry to the UK. The smaller amplitude in older adults, and greater amplitude among South Asians and people who recently entered the UK may indicate the role of latent TB reactivation and vitamin D deficiency in driving seasonality.

Thyroid Status in Children with Transfusion Dependent Thalassemia in a Tertiary Level Hospital.

Most of the thalassemic children of Bangladesh are receiving repeated blood transfusion. But they do not receive chelation therapy due to financial constraints. As a result, iron overload occurs in various organs of these children. Extra iron that is loaded in thyroid gland causes thyroid dysfunction. This study was undertaken to evaluate thyroid status in children with transfusion dependent Thalassemia patient. This cross-sectional analytical study was conducted in the Department of Pediatrics, Mymensingh Medical College Hospital, Bangladesh from September 2016 to April 2018. Children having thalassemia diagnosed by Hb electrophoresis, aged 3-12 years of both sexes were included as study group. Children of same age and sex admitted in indoor of Mymensingh Medical College Hospital with minor illness and without thalassemia were taken as comparison group. Purposive Sampling technique was applied. Serum FT4, TSH and ferritin level were estimated in all children. Data analysis was done with Statistical Package for Social Science (SPSS) version 21.0. A total of 60 patients were enrolled as study group and another 60 patients were compared as comparison group. Mean ages of study group was 7.88±2.55 years and comparison group were 7.22±2.48 years. The mean pre-transfusion hemoglobin, serum ferritin, serum FT4 and serum TSH level were found 6.23±0.60 gm/dl, 2658.33±879.39 ng/ml, 15.14±4.40 fmol/mL, 4.29±4.60 µIU/mL respectively in study group. The mean serum FT4 was found significantly lower and mean serum TSH was significantly higher in thalassemic children in comparison to non-thalassemic children (p= <0.05). Frequency of subclinical hypothyroidism was found significantly higher in study group (25.0%) compared to comparison group (3.3%) (p=0.001). Mean serum ferritin level was found significantly higher in hypothyroid cases. Mean FT4 level was significantly lower and mean TSH level was significantly higher in hypothyroid thalassemic patients (p= <0.001). Significant positive correlation between serum ferritin level and serum TSH level was found. Higher serum ferritin level was found significantly associated with the development of hypothyroidism in thalassemic patients.

An Alternative Diagnostic Test rather than 24 hours Urinary Protein to Detect Massive Proteinuria in Nephrotic Syndrome in Mymensingh Medical College Hospital, Bangladesh.

This cross-sectional study was conducted in Department of Paediatrics, Mymensingh Medical College Hospital (MMCH), Bangladesh from February 2016 to December 2016 to detect massive proteinuria by spot urinary protein creatinine ratio as an alternative diagnostic test to 24 hrs urinary total protein in nephrotic syndrome. Fifty one (51) children aged 2 to 12 years admitted with 1st episode of nephrotic syndrome in the pediatric department of MMCH were included in this by purposive sampling technique. All the patients were asked to give a 24 hours urine sample. After this collection the next spot urine samples were collected for protein and creatinine estimation. Among 51 patients 33 were male and 18 were female. The mean age was 5.5+2.3 years. The entire patient had normal renal function. The mean 24 hours urinary protein level was 3.8±1.7 gm/m²/24 hours, the mean spot urinary protein-creatinine ratio was 5.4±2.5. Mean serum albumin was 1.8±0.6 gm/dl and the mean serum cholesterol was 357.6±74.7 mg/dl. The spot urinary protein creatinine ratio was increased with the increase in the amount of 24 hours urinary total protein and a strong positive Pearson correlation (r=0.805) was found. In all the cases of nephrotic syndrome spot urinary protein creatinine ratio were found more than 2. Based on this study, it can be concluded that the determination of the spot urinary protein-creatinine ratio can replace the 24 hours urine collection in the quantitation of proteinuria in nephrotic syndrome.