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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.
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Bilirrubina , Aprendizaje Automático , Bilirrubina/sangre , Humanos , Femenino , Masculino , Persona de Mediana Edad , Adulto , Anciano , Adolescente , Adulto Joven , Niño , Anciano de 80 o más Años , Cromatografía Líquida de Alta Presión , Preescolar , LactanteRESUMEN
High-pressure processing (HPP) of donor human milk (DM) minimally impacts the concentration and bioactivity of some important bioactive proteins including lactoferrin, and bile salt-stimulated lipase (BSSL) compared to Holder pasteurization (HoP), yet the impact of HPP and subsequent digestion on the full array of proteins detectable by proteomics remains unclear. We investigated how HPP impacts undigested proteins in DM post-processing and across digestion by proteomic analysis. Each pool of milk (n = 3) remained raw, or was treated by HPP (500 MPa, 10 min) or HoP (62.5 °C, 30 min), and underwent dynamic in vitro digestion simulating the preterm infant. In the meal, major proteins were minimally changed post-processing. HPP-treated milk proteins better resisted proximal digestion (except for immunoglobulins, jejunum 180 min) and the extent of undigested proteins after gastric digestion of major proteins in HPP-treated milk was more similar to raw (e.g., BSSL, lactoferrin, macrophage-receptor-1, CD14, complement-c3/c4, xanthine dehydrogenase) than HoP.
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Digestión , Recien Nacido Prematuro , Proteínas de la Leche , Leche Humana , Pasteurización , Proteómica , Humanos , Leche Humana/química , Leche Humana/metabolismo , Proteínas de la Leche/metabolismo , Proteínas de la Leche/química , Proteínas de la Leche/análisis , Presión , Recién Nacido , Lactoferrina/análisis , Lactoferrina/metabolismo , Manipulación de Alimentos , Femenino , Lactante , Modelos BiológicosRESUMEN
The human milk fat globule membrane (hMFGM) and Lactobacillus modulate the infant's gut and benefit health. Hence, the current study assesses the probiotic potential of Lactiplantibacillus plantarum (MRK3), Limosilactobacillus ferementum (MK1) isolated from infant feces, and its interaction with hMFGM during conditions mimicking infant digestive tract. Both strains showed high tolerance to gastrointestinal conditions, cell surface hydrophobicity, and strong anti-pathogen activity against Staphylococcus aureus. During digestion, hMFGM significantly exhibited xanthine oxidase activity, membrane roughness, and surface topography. In the presence of hMFGM, survival of MRK3 was higher than MK1, and electron microscopic observation revealed successful entrapment of MRK3 in the membrane matrix throughout digestion. Interestingly, probiotic-membrane matrix interaction showed significant synergy to alleviate oxidative stress and damage induced by cell-free supernatant of Escherichia coli in Caco-2 cells. Our results show that a probiotic-encapsulated membrane matrix potentially opens the functional infant formula development pathway.
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Glucolípidos , Glicoproteínas , Gotas Lipídicas , Leche Humana , Estrés Oxidativo , Probióticos , Humanos , Probióticos/farmacología , Probióticos/química , Gotas Lipídicas/química , Gotas Lipídicas/metabolismo , Glicoproteínas/química , Glicoproteínas/farmacología , Glicoproteínas/metabolismo , Células CACO-2 , Glucolípidos/química , Glucolípidos/farmacología , Glucolípidos/metabolismo , Estrés Oxidativo/efectos de los fármacos , Leche Humana/química , Lactante , Staphylococcus aureus/efectos de los fármacos , Staphylococcus aureus/crecimiento & desarrollo , Fórmulas Infantiles/química , Escherichia coli/efectos de los fármacos , Escherichia coli/metabolismo , Tracto Gastrointestinal/microbiología , Tracto Gastrointestinal/metabolismoRESUMEN
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.
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Galectina 3 , Péptido Natriurético Encefálico , Fragmentos de Péptidos , Humanos , Niño , Fragmentos de Péptidos/sangre , Adolescente , Preescolar , Lactante , Francia , Valores de Referencia , Péptido Natriurético Encefálico/sangre , Femenino , Galectina 3/sangre , Estudios de Cohortes , Masculino , Recién Nacido , Inmunoensayo/normas , Biomarcadores/sangre , Estudios Retrospectivos , Galectinas/sangreRESUMEN
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.
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Humanos , Masculino , Femenino , Lactante , PreescolarRESUMEN
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.
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Humanos , Masculino , Femenino , Lactante , PreescolarRESUMEN
PURPOSE: Orbital rhabdomyosarcoma is a rare soft tissue sarcoma in childhood but with a good prognosis. Treatment usually includes surgery, chemotherapy, and radiotherapy. This study aimed to evaluate long-term alterations in teeth and cranial bones in children, adolescents, and young adults after oncologic treatment for childhood orbital rhabdomyosarcoma. METHOD: This was a cross-sectional study that evaluated patients treated for orbital rhabdomyosarcoma between 1988 and 2011. Demographic, clinical, and treatment data were collected during the study period; also, panoramic radiographs, cephalometric study, and photographs of the face were taken. RESULTS: Eight long-term survivors were studied. Of those, 50% were male, 75% had less than 5 years of treatment, and 88% had only one of the orbits affected by the tumor. Regarding treatment, 50% received 50.4 Gy of radiotherapy in the orbit; the chemotherapy included vincristine, actinomycin D, and cyclophosphamide in 75% of the cases and also ifosfamide and etoposide in 25%. The children presented craniofacial alterations, mainly when radiotherapy occurred between 0 and 5 years old (p = 0.01). The mandibles also showed dental alterations, probably due to chemotherapy. CONCLUSION: In conclusion, orbital RMS patients treated with chemoradiotherapy, important dental, and facial bone alterations were found. The most significant were in the maxilla and close to the irradiation field. Dental and mandibular bone alterations were also found, indicating the probable chemotherapy action, as this region was not included in the irradiation field.
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Neoplasias Orbitales , Rabdomiosarcoma , Humanos , Masculino , Femenino , Estudios Transversales , Rabdomiosarcoma/terapia , Adolescente , Neoplasias Orbitales/terapia , Niño , Preescolar , Adulto Joven , Protocolos de Quimioterapia Combinada Antineoplásica , Quimioradioterapia/métodos , Quimioradioterapia/efectos adversos , Lactante , Supervivientes de Cáncer/estadística & datos numéricos , Ciclofosfamida/administración & dosificación , Vincristina/administración & dosificaciónRESUMEN
Introduction. Eighty percent of children with primitive nephrotic syndrome (NS) will have at least one relapse in their life. Specific risk factors could be associated with a higher incidence of relapses and a worse prognosis. This study aims to deepen the demographic and onset-related risk factors in children with known diagnosis of primitive NS attending the Pediatric Nephrology Unit of the University Hospital of Padua. Methods. Observational, descriptive study of all children (1-11 years old) with a known diagnosis of Primitive NS who attended our Pediatric Nephrology Unit between 1 January 2002 and 31 March 2023. Results. 49 patients were involved. 79.5% had at least one episode of NS relapse during their lifetime. 69.4% were classified as frequently relapsing or steroid-dependent NS. The relapse risk factor "non-Western ethnicity" was related to a worse prognosis and steroid-dependent NS classification (p = 0.041). The onset-related risk factor "thrombocytosis" appears to be related to a better prognosis (p = 0.03). Conclusion. The relapse risk factors "non-Western ethnicity" and "thrombocytosis" are characterized by worse and better prognosis, respectively. This evidence could support the follow-up of primitive NS in pediatric age.
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Síndrome Nefrótico , Recurrencia , Humanos , Factores de Riesgo , Niño , Preescolar , Masculino , Femenino , Lactante , PronósticoRESUMEN
Introduction: tuberculosis remains a major public health problem, with continuing high levels of prevalence, and mortality. In Niger, the incidence of tuberculosis remains high. This study aims to investigate the epidemiology of pulmonary tuberculosis at the National Anti-Tuberculosis Center of Niamey in Niger. Methods: this study used a quantitative approach with a retrospective and descriptive design. Data were obtained from positive pulmonary tuberculosis cases detected by microscopy on Ziehl-Neelsen stained sputum at the National Anti-Tuberculosis Center (NATC) in Niamey, Niger covered the period between June 2017 and January 2020. 955 pulmonary TB patients were recorded whose diagnosis was based either on clinical-radiological arguments (thus negative microscopy) or positive microscopy. This form was used to collect data recorded in the clinical case registers, registers, and Excel files of the GeneXpert platform of the NATC laboratory. Results: eighty-nine-point eleven percent (89.11%) of the patients were microscopy-positive. Among the study population, men were the most affected by tuberculosis with 80.03%. The 25-34 age group, representing 23.77%, was the most affected. 6.93% of patients were co-infected with tuberculosis and HIV. All patients were put on treatment, with a therapeutic success rate of 72.38% and a therapeutic failure rate of 10.95%. Among the cases of therapeutic failure, 80.90% had Mycobacterium tuberculosis complex detected and 27.14% were resistant to Rifampicin. Conclusion: Niger continues to have a tuberculosis epidemic which requires monitoring. Improving the diagnostic system for more effective management of the disease is important for appropriate diagnosis and treatment.
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Antituberculosos , Mycobacterium tuberculosis , Tuberculosis Pulmonar , Humanos , Estudios Retrospectivos , Masculino , Niger/epidemiología , Femenino , Adulto , Tuberculosis Pulmonar/tratamiento farmacológico , Tuberculosis Pulmonar/epidemiología , Tuberculosis Pulmonar/diagnóstico , Antituberculosos/farmacología , Antituberculosos/administración & dosificación , Adulto Joven , Persona de Mediana Edad , Mycobacterium tuberculosis/aislamiento & purificación , Mycobacterium tuberculosis/efectos de los fármacos , Adolescente , Resultado del Tratamiento , Niño , Infecciones por VIH/epidemiología , Infecciones por VIH/tratamiento farmacológico , Preescolar , Anciano , Tuberculosis Resistente a Múltiples Medicamentos/epidemiología , Tuberculosis Resistente a Múltiples Medicamentos/tratamiento farmacológico , Tuberculosis Resistente a Múltiples Medicamentos/diagnóstico , Esputo/microbiología , Prevalencia , Coinfección/epidemiología , Coinfección/tratamiento farmacológico , Lactante , IncidenciaRESUMEN
Objective: To investigate the cause of a foodborne outbreak that occurred in Dong Nai province, Viet Nam, in 2024, and implement control measures. Methods: An initial investigation was conducted to confirm the outbreak, which was followed by epidemiological and environmental investigations to find the plausible causative food item. Clinical specimens and food samples were tested to identify the pathogen. Results: A total of 547 symptomatic cases were recorded, of whom two were in severe condition requiring extracorporeal membrane oxygenation and ventilation, one of whom died. Among 99 interviewed cases, the mean incubation time was 9 hours (range 2-24 hours), with the main symptoms being fever, abdominal pain, diarrhoea and vomiting. All patients had eaten banh mi from a local bakery. Salmonella spp. were identified in food samples and clinical specimens. The bakery halted production, and the outbreak ended after 1 week. Discussion: All the patients were exposed to only one food in common, which facilitated the investigation process. This outbreak is a reminder to small retailers and take-away shops of the importance of food safety management in preventing similar future outbreaks. All food handlers must comply with food hygiene principles, especially in hot temperatures, which boosts bacterial growth.
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Brotes de Enfermedades , Intoxicación Alimentaria por Salmonella , Humanos , Vietnam/epidemiología , Masculino , Adulto , Femenino , Intoxicación Alimentaria por Salmonella/epidemiología , Intoxicación Alimentaria por Salmonella/microbiología , Persona de Mediana Edad , Preescolar , Niño , Adolescente , Lactante , Salmonella/aislamiento & purificación , Adulto Joven , Enfermedades Transmitidas por los Alimentos/epidemiología , Enfermedades Transmitidas por los Alimentos/microbiología , Microbiología de Alimentos , AncianoRESUMEN
Children with medical complexity (CMC) often require home healthcare services to manage chronic health conditions. Evaluation of home safety is recommended when children transition from hospital to home care, though despite best efforts, safety events, such as falls, still occur. Understanding the prevalence and causal factors of falls in CMC is critical for the development of fall prevention interventions and protocols. This study aims to describe demographics and reasons for falls reported in CMC receiving home healthcare services. A retrospective analysis was performed using data from an incident reporting database from January 2019 to March 2023. Participants included CMC who received home healthcare services from a single institution and had at least one documented fall. A total of 43 falls were experienced by 31 unique participants. The participants were predominantly male (58.1%), White (71.0%), and non-Hispanic/Latino (96.8%), with a median age of 10 years at the time of the fall. Primary diagnoses of CMC with falls included neurological disorders (41.9%), congenital chromosomal abnormalities (25.8%), and oncological conditions (16.1%). The most common reasons for falls were loss of balance (32.6%), unknown factors (19.6%), and trip/slips (17.4%). Half of falls were deemed to be potentially preventable. This study provides valuable insight into falls among CMC receiving home healthcare services and emphasizes the multifactorial nature of fall risks in this population. Understanding demographic characteristics, diagnoses, and causal factors of falls is critical in the development of proactive fall prevention strategies. Responding proactively to mitigate fall risks is an important step in enhancing the safety and quality of life for CMC. Future collaborative research efforts are warranted to validate findings and evaluate potentially successful fall prevention interventions.
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Accidentes por Caídas , Servicios de Atención de Salud a Domicilio , Humanos , Accidentes por Caídas/estadística & datos numéricos , Accidentes por Caídas/prevención & control , Masculino , Femenino , Servicios de Atención de Salud a Domicilio/estadística & datos numéricos , Niño , Estudios Retrospectivos , Preescolar , Adolescente , LactanteRESUMEN
The aim of the interdisciplinary S2k guideline "Acute infectious gastroenteritis in infants, children and adolescents" is to summarise the current state of knowledge on the clinical presentation, diagnosis, treatment, prevention and hygiene of acute infectious gastroenteritis, including nosocomial gastrointestinal infections, in infants, children and adolescents on the basis of scientific evidence, to evaluate it by expert consensus and to derive practice-relevant recommendations from it. The guideline provides a corridor for action for frequent decisions. It also serves the purpose of evidence-based further education and training and is thus intended to improve the medical care of children with acute gastroenteritis. In particular, the guideline aims to avoid unnecessary hospitalisation of children with AGE and to take preventive measures to avoid and spread infection.
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Gastroenteritis , Humanos , Niño , Adolescente , Lactante , Preescolar , Gastroenteritis/terapia , Gastroenteritis/diagnóstico , Gastroenteritis/prevención & control , Enfermedad Aguda , Recién Nacido , Alemania , Gastroenterología/normas , Medicina Basada en la Evidencia , Guías de Práctica Clínica como Asunto , Masculino , Femenino , Infección Hospitalaria/prevención & control , Infección Hospitalaria/diagnósticoRESUMEN
PURPOSE: Montelukast is used extensively in children and adolescents for allergic rhinitis and asthma. However, concerns have been raised regarding the increased risk of neuropsychiatric adverse events (NPAEs) associated with montelukast use. Therefore, our case-crossover study was conducted to observe whether there is an increased risk of NPAEs associated with montelukast use in children and adolescents. MATERIALS AND METHODS: A population-based case-crossover study using the customised Health Insurance Review and Assessment (HIRA) dataset was conducted. Paediatric patients aged between 0 and 19 years diagnosed with allergic rhinitis and/or asthma with a history of at least one montelukast prescription between 1 January 2018 and 31 December 2021 were included. Exposure to montelukast was assessed during 3-, 7-, 14-, 28- and 56-day hazard periods prior to each patient's NPAE. Stratified analyses according to age group, gender and season for the risk of NPAEs associated with montelukast use in the previous 7 days and 14 days were performed, respectively. Conditional logistic regression analysis was used to calculate adjusted ORs (aORs) with their corresponding 95% CIs, adjusting for concomitant medications. RESULTS: A total of 161 386 paediatric patients was identified. An increased risk of NPAEs associated with montelukast was found in all time window periods, including 3-day (aOR 1.28, 95% CI 1.24 to 1.32), 7-day (aOR 1.29, 95% CI 1.26 to 1.33), 14-day (aOR 1.34, 95% CI 1.31 to 1.37), 28-day (aOR 1.38, 95% CI 1.36 to 1.41) and 56-day (aOR 1.21, 95% CI 1.19 to 1.22) preceding hazard periods compared with use in the four control periods. CONCLUSION: Children and adolescents with allergic rhinitis and/or asthma should be prescribed montelukast with caution considering clinical benefits.
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Acetatos , Antiasmáticos , Asma , Estudios Cruzados , Ciclopropanos , Quinolinas , Sulfuros , Humanos , Niño , Adolescente , Masculino , Femenino , Preescolar , Acetatos/efectos adversos , Acetatos/uso terapéutico , Quinolinas/efectos adversos , Quinolinas/uso terapéutico , Sulfuros/efectos adversos , Asma/tratamiento farmacológico , Asma/epidemiología , Lactante , Antiasmáticos/efectos adversos , Antiasmáticos/administración & dosificación , Antiasmáticos/uso terapéutico , Rinitis Alérgica/epidemiología , Recién Nacido , Adulto JovenRESUMEN
RATIONALE: Skeletal dysplasias are a complex series of rare genetic disorders that cause irregular development of bones, joints, and cartilages in children. A total of 770 disorders associated with 41 groups of skeletal dysplasia have been documented, demonstrating a wide range of clinical manifestations and varying levels of severity. In addition to conventional methods, whole genome sequencing has emerged as a useful approach to pinpointing the underlying etiology of skeletal dysplasias. PATIENT CONCERNS: A 13-month-old female was admitted to the hospital due to the symptoms of jaundice and failure to thrive. DIAGNOSES: The child was subjected to blood tests and a radiographic assessment. The blood chemistries revealed elevated levels of total bilirubin (178 µmol/L), bile acids (198 µmol/L), and low levels of serum calcium (1.69 mmol/L) and phosphate (0.8 mmol/L), along with irregular skeletal development in the forearms and legs, considering rickets and cholestasis. INTERVENTIONS: Whole exome sequencing data of the proband revealed a homozygous mutation of c.388dupA in the BAAT (bile acid-CoA: amino acid N-acyltransferase) gene sequence. This mutation caused a frameshift in the amino acid of the BAAT protein, resulting in the pR130Kfs*12 variant. This mutation has been identified as the underlying cause of skeletal dysplasia in the proband. OUTCOMES: A novel frameshift mutation in the BAAT gene of a Vietnamese female child diagnosed with skeletal dysplasia has been studied by whole exome sequencing analysis. LESSONS: This research reported a case of skeletal dysplasia caused by a frameshift mutation in the BAAT gene. The results of this study contribute to our understanding of the diverse factors that influence irregular skeletal development in children and provide genetic data to support clinical practice.
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Mutación del Sistema de Lectura , Humanos , Femenino , Lactante , Aciltransferasas/genética , Secuenciación del Exoma , Enfermedades del Desarrollo Óseo/genética , Enfermedades del Desarrollo Óseo/diagnósticoRESUMEN
BACKGROUND: European and North-American guidelines on management of H. pylori infection in children provide the option not to treat even if the infection is endoscopically confirmed. We used data from the EuroPedHp Registry to identify factors associated with therapy decisions. METHODS: We included treatment-naïve patients reported between 2017 and 2020 from 30 centers in 17 European countries. Multivariable logistic regression identified factors including comorbidities within and outside the gastrointestinal (GI) tract influencing the decision for or against therapy. RESULTS: Of 1165 patients (52% females, median age 12.8), 28% (321/1165) reported any alarm symptom, 26% (307/1165) comorbidities, and 16% (192/1165) did not receive eradication treatment. Therapy was initiated less often in children having any GI comorbidity (57%, n = 181), particularly in those with eosinophilic esophagitis (60%, n = 35), inflammatory bowel disease (54%, n = 28), and celiac disease (43%, n = 58), compared to those with non-GI (86%, n = 126) or no comorbidity (89%, n = 858), despite similar frequencies of alarm and non-alarm symptoms, ulcers, erosions, and nodular gastritis. Patients with GI and without comorbidities remained more likely untreated in high versus low H. pylori prevalence countries (p < 0.0001). In children without comorbidities, factors favoring therapy included older age, being overweight, having symptoms, erosions, antral nodularity, and available antibiotic susceptibility results. CONCLUSION: In this cohort, H. pylori-infected children with GI comorbidities compared to no comorbidity showed 75% reduced chance of receiving eradication therapy. We found no evidence supporting different management strategies in infected patients with GI comorbidities compared to all pediatric patients with endoscopically proven H. pylori infection.
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Antibacterianos , Infecciones por Helicobacter , Helicobacter pylori , Sistema de Registros , Humanos , Infecciones por Helicobacter/tratamiento farmacológico , Infecciones por Helicobacter/epidemiología , Niño , Femenino , Masculino , Helicobacter pylori/efectos de los fármacos , Adolescente , Antibacterianos/uso terapéutico , Europa (Continente)/epidemiología , Preescolar , Comorbilidad , LactanteRESUMEN
Existing research suggests that prior victimizations during a person's lifetime, particularly childhood traumas and maltreatment, are risk factors for abuse and revictimization in adulthood, although longitudinal evidence is sparse. Using data from a 30-year ongoing longitudinal study of the long-term consequences of childhood maltreatment, this paper describes the extent to which childhood maltreatment predicts subsequent victimization and partner violence victimization at two time points in adulthood. Data were obtained from a prospective cohort design study in which children with court-substantiated cases of maltreatment (ages 0-11 years) and demographically matched controls were followed into adulthood and interviewed over several waves. Childhood maltreatment was assessed through juvenile and adult court records from 1967 to 1971 in a midwestern county area in the United States. Victimization experiences were assessed from 2000 to 2002 (Mage = 39.5 years) and 2009 to 2010 (Mage = 47.5) and included two types based on information from the lifetime trauma and victimization history instrument and questions about past year partner violence victimization. Individuals with histories of childhood maltreatment were more likely to report physical and sexual assaults and kidnapping and stalking victimization than controls through age 39.5. In contrast, the two groups did not differ at the later assessment at age 47.5, except maltreated individuals reported greater risk for sexual assault/abuse than controls. For intimate partner violence victimization at age 39.5, maltreated and control groups differed only in terms of victimization involving injury. Later in adulthood, more individuals with histories of childhood maltreatment reported partner physical violence victimization compared to controls. Although these longitudinal findings showed a general decline in victimization experiences over the two time points, these results demonstrate that childhood maltreatment increases risk for subsequent revictimization in middle adulthood, specifically for sexual assault/abuse and intimate partner physical violence victimization. These findings have implications for prevention and intervention efforts targeting maltreated children.
Asunto(s)
Adultos Sobrevivientes del Maltrato a los Niños , Víctimas de Crimen , Violencia de Pareja , Humanos , Víctimas de Crimen/estadística & datos numéricos , Víctimas de Crimen/psicología , Femenino , Adulto , Masculino , Estudios Longitudinales , Violencia de Pareja/estadística & datos numéricos , Violencia de Pareja/psicología , Estudios Prospectivos , Persona de Mediana Edad , Niño , Adultos Sobrevivientes del Maltrato a los Niños/psicología , Adultos Sobrevivientes del Maltrato a los Niños/estadística & datos numéricos , Preescolar , Maltrato a los Niños/estadística & datos numéricos , Maltrato a los Niños/psicología , Adolescente , Factores de Riesgo , Lactante , Adulto JovenRESUMEN
BACKGROUND: A mother's diet during pregnancy may influence her infant's immune development. However, as potential interactions between components of our dietary intakes can make any nutritional analysis complex, here we took a multi-component dietary analysis approach. METHODS: Nutritional intake data was collected from 639 pregnant women using a validated semi-quantitative food frequency questionnaire to reflect their dietary intakes during 32-36 weeks of gestation. To investigate their dietary intake pattern, we calculated Dietary Inflammatory Index scores. Maternal consumption of 12 food groups, 20 individual whole foods, and 18 specific nutrient intakes, along with any vitamin and mineral supplementation, were determined. Infant outcomes included eczema, allergen sensitization, and IgE-mediated food allergy. Regression-based analyses with covariates adjustment were applied. RESULTS: Women with higher white bread consumption were more likely to have an infant with doctor-diagnosed eczema (adjusted relative risk [aRR] 1.16; 95% CI 1.08, 1.24; p < .001) and IgE-mediated food allergy (aRR 1.14; 95% CI 1.02, 1.28; p = .02). Higher maternal intakes of fiber-rich bread (aRR 1.14; 95% CI 1.04, 1.25; p = .01) and legumes (aRR 1.11; 95% CI 1.02, 1.21; p = .02) were also associated with infant doctor-diagnosed eczema. Higher maternal thiamine intakes were associated with increased parent-reported infant eczema (aRR 1.08; 95% CI 1.03, 1.12; p < .001). CONCLUSION: In Australia, where bread flour is fortified with thiamine, we identified consistent links between higher maternal thiamine-rich diets and increased risk of infant eczema and food allergy. Our results highlight a need for further investigation of potential effects of high thiamine exposures on immune development, especially in-utero.
Asunto(s)
Pan , Hipersensibilidad a los Alimentos , Tiamina , Humanos , Femenino , Embarazo , Lactante , Tiamina/administración & dosificación , Hipersensibilidad a los Alimentos/epidemiología , Adulto , Dieta , Eccema/epidemiología , Eccema/etiología , Masculino , Encuestas y Cuestionarios , Recién NacidoRESUMEN
PURPOSE: Divided sigmoidostomy (DS) is the classic stoma for patients with anorectal malformations (ARM). Loop sigmoidostomies (LS) in ARM are associated with a higher risk of stoma prolapse and urinary tract infections (UTI). This is not clearly supported by literature. We compared our experience with both techniques. METHODS: Retrospective study of ARM patients who underwent DS or LS between 2013 and 2023. We analysed demographics, associated malformations, intraoperative variables, oral intake and stoma functioning times, hospital stay, complications, prolapses, and UTI. RESULTS: Of 40 patients, 29 underwent open DS and 11 laparoscopic LS. Demographics, malformation type, associated anomalies, surgical time, intraoperative and anaesthetic complications were comparable. Postoperative complications were higher in DS than LS [14(48.3%) vs 1(9.1%), (p = 0.02)], mostly due to wound complications [12(41.3%) vs 0(0%), (p = 0.01)]; with 3 dehiscenses and 3 strictures reintervened. The hours to oral intake and stoma functioning were higher for DS [48(39-90) and 48(24-48) vs 24(24-48) and 24(24-24), (p < 0.05)], with more days of hospital stay [36(19-60) vs 8(5-10), (p = 0.001)]. Prolapses [1(3.4%) vs 1(9.1%)] and UTIs [3(10.3%) vs 1(9.1%) (p > 0.05)] were comparable. CONCLUSION: LS in ARM patients have no higher risk of prolapse or UTI than DS. DS had more complications, mostly wound infections, strictures and dehiscenses.