Versión argentina de la herramienta de evaluación de la alimentación pediátrica PediEAT / Argentine version of the PediEAT, a pediatric eating assessment tool

Introducción. Durante la infancia, los niños pueden experimentar algún grado de dificultad al comer. Existe una herramienta, desarrollada en Estados Unidos, de evaluación de la alimentación pediátrica (PediEAT), que permite identificar síntomas problemáticos. Objetivo. Realizar una adaptación transcultural para una versión argentina, con adecuación cultural y equivalencia semántica respecto a su versión original. Población y métodos. Se utilizó una versión autoadministrada del PediEAT que fue respondida por familias y/o cuidadores de niños de 6 meses a 7 años. Se realizó una primera fase de evaluación de validez del contenido con un grupo de expertos. Luego, una fase de pretest con familias mediante entrevistas cognitivas para comprobar la comprensión de las palabras y frases. Se realizaron las modificaciones necesarias para que quedara adaptada al contexto. Resultados. En la fase de evaluación de validez del contenido con el grupo de 8 expertos, de los 80 ítems se modificaron 36. En el pretest, se realizaron entrevistas cognitivas a 18 cuidadores; se realizaron cambios en 11 ítems para mejorar la comprensión por parte de la población argentina. La versión argentina fue aprobada por los autores originales. Conclusiones. El instrumento PediEAT versión argentina resulta lingüísticamente equivalente a su versión original, lo que permite su uso para la detección de problemáticas alimentarias en niños.

Introduction. During childhood, children may experience some degree of difficulty eating. A tool (PediEAT) has been developed in the United States and is available to assess pediatric eating and to identify problematic symptoms. Objective. To obtain an Argentine version that is transculturally adapted, culturally adequate, and semantically equivalent to the original version. Population and methods. A self-administered version of the PediEAT was used and completed by families and/or caregivers of children aged 6 months to 7 years. In the first phase, content validity was assessed by a group of experts. This was followed by a pre-test phase with families using cognitive interviews to test word and phrase comprehension. The necessary changes were made to obtain a version adapted to the context. Results. The tool's content validity was assessed by a group of 8 experts; as a result, 36 of the 80 items were changed. During the pre-test phase, cognitive interviews were conducted with 18 caregivers; 11 items were changed to improve comprehension by the Argentine population. The Argentine version was approved by the original authors. Conclusions. The Argentine version of the PediEAT tool is linguistically equivalent to the original version, and this allows its use to screen for feeding problems in children.

Evaluación de las conductas de lactancia materna y las prácticas de alimentación complementaria de las madres turcas y las madres refugiadas sirias / Evaluation of breastfeeding behaviors and complementary feeding practices of Turkish and Syrian refugee mothers

Objetivos: el objetivo de este estudio fue comparar la lactancia y los factores relacionados (edad, nivel educativo, edad al momento del primer embarazo, etc.) y las prácticas de alimentación complementaria de las madres refugiadas sirias y las madres turcas. Materiales y métodos: este estudio descriptivo y comparativo analizó las características nutricionales de los bebés de 9 a 60 meses de edad cuyas madres fueran turcas o refugiadas sirias que asistieron al Hospital Público de Kiziltepe entre enero y julio de 2022. Resultados: se incluyó a 204 madres (126 turcas y 78 sirias). La edad promedio de las madres turcas era 27,60 ± 5,17 años y la de las refugiadas sirias, 28,91 ± 5,62 años, sin una diferencia significativa entre ambos grupos (p: 0,091). La lactancia materna posparto fue del 91,3 % y la duración de la lactancia fue de 12 meses (0-24) en las ciudadanas turcas, mientras que, en las refugiadas sirias, fue del 84,6 % y 9 meses (0-24), respectivamente (consumo de leche materna, p: 0,144; tiempo de consumo, p: 0,161; sin diferencias estadísticas). El 23,8 % de las ciudadanas turcas y el 5,1 % de las refugiadas sirias recibieron capacitación sobre la lactancia, con una diferencia significativa entre ambos grupos (p: 0,001). Conclusión: en los grupos de refugiadas, las prácticas de nutrición infantil y materna se ven alteradas. En colaboración con las organizaciones locales e internacionales y los organismos estatales que ayudan a los grupos de refugiados se podrían mejorar las prácticas de nutrición maternoinfantil y reducir las brechas.

Objectives: The purpose of this study was to compare breastfeeding and related factors (age, level of education, age at first pregnancy, etc.), and complementary feeding practices between Syrian refugee and native Turkish mothers. Material and methods: This descriptive-comparative study examined the nutritional characteristics of infants aged 9 to 60 months whose mothers were Turkish or Syrian refugees who attended Kiziltepe State Hospital between January 2022 and July 2022. Results: 204 mothers (126 Turkish and 78 Syrian) who had a child aged 9-60 months were included. The average age of the mothers was 27.60 ± 5.17 years for Turkish citizens and 28.91 ± 5.62 for Syrian refugees, without significant difference between the two groups (p: 0.091). Postpartum breastfeeding was 91.3% and breastfeeding duration was 12 (0-24) months in Turkish citizens; in Syrian refugees, breastfeeding was 84.6% and average breastfeeding time was 9 (0- 24) months (respectively, breast milk intake p: 0.144, uptake time p: 0.161; no statistical difference). Breastfeeding training was received by 23.8% of Turkish citizens and 5.1% of Syrian refugees; there was a significant difference between the two groups (p: 0.001). Conclusion: In refugee groups, infant and maternal nutrition practices are disrupted. Working in conjunction with local and international organizations and state agencies that give help to refugee groups, the appropriate interventions, initiatives, supports, and awareness-raising activities would strive to improve practices in mother and baby nutrition and narrow gaps.

Consumo de alimentos ultraprocesados en niños entre 6 y 23 meses según la Segunda Encuesta Nacional de Nutrición y Salud de Argentina / Consumption of ultra-processed foods among children aged 6 to 23 months as per the Second National Survey on Nutrition and Health of Argentina

Introducción. Contar con los datos del consumo de alimentos ultraprocesados en los niños resulta importante para planificar políticas públicas. Objetivos. Describir la prevalencia de consumo de alimentos ultraprocesados en menores de 2 años e identificar factores asociados. Describir la proporción que los alimentos ultraprocesados representan del número total de los alimentos consumidos en el día. Métodos. Análisis secundario de los datos de niños entre 6 y 23 meses de edad con al menos un recordatorio de 24 horas de consumo de alimentos de la Segunda Encuesta Nacional de Nutrición y Salud de Argentina del año 2018. Se estudiaron como variables principales: "consumo de alimentos ultraprocesados" (según el sistema NOVA) categorizada en sí/no y la "proporción de ultraprocesados del total de alimentos consumidos". Los factores asociados explorados fueron lactancia materna, sexo, edad y el número de alimentos no ultraprocesados consumidos. Se realizó un modelo de regresión logística multivariable y se aplicó un factor de expansión para ponderar los datos. Resultados. Se incluyeron 4224 niños (ponderado 908 104). La prevalencia de consumo de ultraprocesados fue del 90,8 % (IC95%: 89,5-92) y fue asociado con mayor edad (OR 3,21; IC95% 2,28-4,52) y con el número de alimentos no ultraprocesados consumidos (OR 1,17; IC95% 1,13-1,23). Los ultraprocesados representaron una mediana del 20 % (RIC: 12,5-28,6 %) del total de alimentos consumidos en el día. Conclusiones. Este estudio señala la alta penetración de los alimentos ultraprocesados en la alimentación complementaria.

Introduction. The availability of data on the consumption of ultra-processed foods among children is important for planning public policies. Objectives. To describe the prevalence of consumption of ultra-processed foods in children under 2 years of age and identify associated factors. To describe the proportion that ultra-processed foods represent out of the total number of foods consumed in a day. Methods. Secondary analysis of data from children aged 6­23 months with at least a 24-hour recall of food consumption based on the Second National Survey on Nutrition and Health of Argentina (2018). The following primary variables were studied: "consumption of ultra-processed foods" (according to the NOVA system) categorized into yes/no and "proportion of ultra-processed out of total foods consumed." The following associated factors were studied: breastfeeding, sex, age, and number of non-ultra-processed foods consumed. A multivariate logistic regression model was developed and an expansion factor was applied to weight the data. Results. A total of 4224 children were included (weighed: 908 104). The prevalence of ultra-processed food consumption was 90.8% (95% CI: 89.5­92) and was associated with an older age (OR: 3.21, 95% CI: 2.28­4.52) and the number of non-ultra-processed foods consumed (OR: 1.17, 95% CI: 1.13­1.23). Ultra-processed foods accounted for a median 20% (IQR: 12.5­28.6%) of all foods consumed in a day. Conclusions. This study highlights the high penetration of ultra-processed foods in complementary feeding.

Metahemoglobinemia y hemólisis intravascular aguda después de una intoxicación por naftaleno en un paciente pediátrico / Methemoglobinemia and acute intravascular hemolysis after naphthalene poisoning in a pediatric patient

La intoxicación por naftaleno es poco frecuente en los niños. Es causada por la ingesta, la inhalación o el contacto con la piel de sustancias que contienen naftaleno. Los pacientes suelen tener orina de color marrón oscuro, diarrea acuosa y vómito bilioso. Los signos incluyen fiebre, taquicardia, hipotensión y valores bajos en la oximetría de pulso, incluso con oxigenoterapia. Los análisis de sangre detectan anemia hemolítica, metahemoglobinemia, insuficiencia renal e hiperbilirrubinemia. Además del tratamiento sintomático, se hacen transfusiones de eritrocitos y se les administran ácido ascórbico, azul de metileno y N-acetilcisteína. En este artículo, presentamos el caso de un paciente masculino de 23 meses de edad con metahemoglobinemia y hemólisis intravascular aguda que recibió atención en la unidad de cuidados intensivos durante cinco días por intoxicación por naftaleno. Si bien la intoxicación por naftaleno es muy poco frecuente, tiene consecuencias mortales y se debe ejercer precaución con su uso y venta.

Poisoning by naphthalene is uncommon in children. It is a type of poisoning brought on by ingesting, inhaling, or coming into touch with naphthalene-containing substances on the skin. Patients typically present with an initial onset of dark brown urine, watery diarrhea, and bile vomit. The signs include fever, tachycardia, hypotension, and low pulse oximetry readings even with oxygen support. Hemolytic anemia, methemoglobinemia, renal failure, and hyperbilirubinemia are all detected in blood tests. Erythrocyte transfusion, ascorbic acid, methylene blue, and N-acetylcysteine (NAC) therapies are provided to inpatients in addition to symptomatic treatment. We present a 23-month-old male patient who developed methemoglobinemia and acute intravascular hemolysis, who was followed up in the intensive care unit for five days due to naphthalene intoxication. Although naphthalene poisoning is very rare, it should be known that it has fatal consequences, and more care should be taken in its use and sale.

Dengue en paciente de 32 días de vida. Reporte de un caso poco habitual / Dengue fever in a 32-day-old patient. A rare case report

El dengue es una enfermedad viral transmitida por la picadura del mosquito Aedes aegypti. El comportamiento del dengue en Argentina es epidémico; la mayoría de los casos se observan en los meses de mayor temperatura. Hasta la semana epidemiológica (SE) 20/2023, se registraron en Argentina 106 672 casos; se vieron afectadas 18 de las 24 provincias que conforman el país. Dentro de los principales grupos de riesgo, se incluyen los menores de 2 años. Reconocer los signos, síntomas e identificar los factores de riesgo es fundamental para el manejo de casos con mayor riesgo de gravedad. Presentamos el caso de una paciente de 32 días de vida que se internó por síndrome febril sin foco, con diagnósticos diferenciales de meningitis viral y sepsis, evolucionó con leucocitosis, plaquetopenia, hipoalbuminemia, asociado a exantema y edemas. Se llegó al diagnóstico de dengue por la clínica, epidemiologia e IgM positiva.

Dengue fever is a viral disease transmitted by the Aedes aegypti mosquitoes. In Argentina, dengue fever is an epidemic disease; most cases are reported during the hot months.Until epidemiological week (EW) 20/2023, 106 672 cases were reported across 18 of the 24 provinces of Argentina. Children younger than 2 years are among the main groups at risk. Recognizing signs and symptoms and identifying risk factors is fundamental for the management of cases at a higher risk of severity. Here we describe the case of a 32-day-old female patient who was hospitalized due to febrile syndrome without a source, who had a differential diagnosis of viral meningitis and sepsis and progressed to leukocytosis, thrombocytopenia, hypoalbuminemia in association with rash and edema. The diagnosis of dengue fever was established based on clinical, epidemiological, and positive IgM data.

Cardiovascular outcomes 50 years after antenatal exposure to betamethasone: Follow-up of a randomised double-blind, placebo-controlled trial.

BACKGROUND: Antenatal corticosteroids for women at risk of preterm birth reduce neonatal morbidity and mortality, but there is limited evidence regarding their effects on long-term health. This study assessed cardiovascular outcomes at 50 years after antenatal exposure to corticosteroids. METHODS AND FINDINGS: We assessed the adult offspring of women who participated in the first randomised, double-blind, placebo-controlled trial of antenatal betamethasone for the prevention of neonatal respiratory distress syndrome (RDS) (1969 to 1974). The first 717 mothers received 2 intramuscular injections of 12 mg betamethasone or placebo 24 h apart and the subsequent 398 received 2 injections of 24 mg betamethasone or equivalent volume of placebo. Follow-up included a health questionnaire and consent to access administrative data sources. The co-primary outcomes were the prevalence of cardiovascular risk factors (any of hypertension, hyperlipidaemia, diabetes mellitus, gestational diabetes mellitus, or prediabetes) and age at first major adverse cardiovascular event (MACE) (cardiovascular death, myocardial infarction, coronary revascularisation, stroke, admission for peripheral vascular disease, and admission for heart failure). Analyses were adjusted for gestational age at entry, sex, and clustering. Of 1,218 infants born to 1,115 mothers, we followed up 424 (46% of survivors; 212 [50%] female) at mean (standard deviation) age 49.3 (1.0) years. There were no differences between those exposed to betamethasone or placebo for cardiovascular risk factors (159/229 [69.4%] versus 131/195 [67.2%]; adjusted relative risk 1.02, 95% confidence interval [CI] [0.89, 1.18;]; p = 0.735) or age at first MACE (adjusted hazard ratio 0.58, 95% CI [0.23, 1.49]; p = 0.261). There were also no differences in the components of these composite outcomes or in any of the other secondary outcomes. Key limitations were follow-up rate and lack of in-person assessments. CONCLUSIONS: There is no evidence that antenatal corticosteroids increase the prevalence of cardiovascular risk factors or incidence of cardiovascular events up to 50 years of age. Established benefits of antenatal corticosteroids are not outweighed by an increase in adult cardiovascular disease.

[Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A). METHODS: A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children's Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples were collected from members of the pedigree. Following extraction of genomic DNA, trio-WGS was carried out, and candidate variant was verified by Sanger sequencing. RESULTS: The child, a 1-year-old boy, had presented with microcephaly, hairy face and dorsal side of distal extremities and trunk, intellectual and motor development delay, increased muscle tone of lower limbs, hyperreflexes of bilateral knee tendons, and positive pathological signs. His parents and sister both had normal phenotypes. Trio-WGS revealed that the child has harbored a homozygous c.1250G>A (p.Arg417His) variant of the CYP7B1 gene, for which his mother was heterozygous, the father and sister were of the wild type. The variant was determined to have originated from maternal uniparental disomy (UPD). The result of Sanger sequencing was in keeping with the that of trio-WGS. SPG5A due to maternal UPD of chromosome 8 was unreported previously. CONCLUSION: The child was diagnosed with SPG5A, a complex type of HSP, for which the homozygous c.1250G>A variant of the CYP7B1 gene derived from maternal UPD may be accountable.

Causal relationship between circulating inflammatory factors and osteoporosis: a bidirectional Mendelian randomization study.

OBJECTIVE: Osteoporosis (OP), a persistent metabolic bone disorder linked with inflammation, has an undetermined cause. In our research, we employed bidirectional Mendelian randomization (MR) to investigate the interplay between OP and inflammation agents. MATERIALS AND METHODS: We performed two-way pooled-level MR analyses to characterize the causal relationship between 41 circulating inflammatory modulators and OP. Genetic variation data for the 41 regulatory factors associated with inflammation were obtained from genome-wide association studies (GWASs) of human cytokines. Bone mineral density (BMD) was utilized as a phenotype for OP in our approach. The BMD dataset, sourced from the GEFOS consortium, a large GWAS meta-analysis study and UK Biobank, was classified based on varied sections [whole body (TB), lumbar spine (LS), femoral neck (FN), forearm (FA), and heel] and age brackets (0-15 years, 15-30 years, 30-45 years, 45-60 years, and above 60 years). Primary MR analyses were executed using the inverse variance weighting (IVW) method, and sensitivity analyses were performed using the MR-Egger, weighted median, simple model, and weighted model. Cochran's Q test was utilized to evaluate the existence of heterogeneity. We used MR-Egger regression and MR multiplicity of residuals and outliers (MR-PRESSO) to assess pleiotropy. RESULTS: After false discovery rate (FDR) correction, elevated levels of circulating interleukin-8 (IL-8) [ß = 0.072 (0.031-0.114), p < 0.01], macrophage inflammatory protein-1b (MIP-1ß) [ß = 0.008 (0.003-0.013), p < 0.01; ß = 0.026 (0.009-0.042), p < 0.01], and cutaneous T-cell attracting chemokine (CTACK) [ß = 0.037 (0.017-0.056), p < 0.01] was associated with a reduced risk of OP. Reduced levels of hepatocyte growth factor (HGF), IL-1ra, IL-10, macrophage colony-stimulating factor (MCSF), and MIP-1α were associated with a reduced risk of OP [ß = -0.030 (-0.047 - -0.013), p < 0.01; ß = -0.025 (-0.041 - -0.010), p < 0.01; ß = -0.018 (-0.029 - -0.007), p < 0.01; ß = -0.060 (-0.097 - -0.024), p < 0.01; ß = -0.118 (-0.190 - -0.047), p < 0.01]. We observed a significant causal correlation between FN-BMD and MCP-3 (FDR < 0.05). The occurrence of OP may also lead to elevated levels of MCP3 [ß = -0.466 (-0.714 - -0.217), p < 0.01]. The reliability of the results was confirmed by sensitivity analyses. CONCLUSIONS: This study demonstrated the pathogenic role of circulating inflammatory modulators in OP using bidirectional MR analysis. This further deepens the understanding of OP pathogenesis and provides new ideas for therapeutic intervention in OP.

Fertility outcomes in male adults with congenital hypogonadotropic hypogonadism treated during puberty with human chorionic gonadotropin and recombinant follicle stimulating hormone.

AIM: Hormone replacement therapy with testosterone for pubertal induction in boys with congenital hypogonadotropic hypogonadism (CHH) achieves virilization but not spermatogenesis. By contrast, human chorionic gonadotropin (hCG) and recombinant follicle stimulating hormone (rFSH) provides both virilization and spermatogenesis. Fertility outcomes of boys treated with recombinant therapy during adolescence have been infrequently described. We report fertility induction and pregnancy outcomes in CHH patients treated with recombinant gonadotropins during puberty. METHODS: Data of six subjects with CHH (n = 3 Kallmann syndrome & n = 3 Isolated hypogonadotropic hypogonadism) treated with hCG and FSH for pubertal induction were reviewed. Of these, five underwent subsequent fertility induction while one desired fertility at the end of pubertal induction. RESULTS: Partners of all subjects achieved pregnancies using hCG and rFSH, all with full term live births. All infants were clinically normal. CONCLUSION: This study provides early evidence of proof of concept of use of gonadotropin induction of puberty being beneficial in subsequent fertility outcome.

Infant microbes and metabolites point to childhood neurodevelopmental disorders.

This study has followed a birth cohort for over 20 years to find factors associated with neurodevelopmental disorder (ND) diagnosis. Detailed, early-life longitudinal questionnaires captured infection and antibiotic events, stress, prenatal factors, family history, and more. Biomarkers including cord serum metabolome and lipidome, human leukocyte antigen (HLA) genotype, infant microbiota, and stool metabolome were assessed. Among the 16,440 Swedish children followed across time, 1,197 developed an ND. Significant associations emerged for future ND diagnosis in general and for specific ND subtypes, spanning intellectual disability, speech disorder, attention-deficit/hyperactivity disorder, and autism. This investigation revealed microbiome connections to future diagnosis as well as early emerging mood and gastrointestinal problems. The findings suggest links to immunodysregulation and metabolism, compounded by stress, early-life infection, and antibiotics. The convergence of infant biomarkers and risk factors in this prospective, longitudinal study on a large-scale population establishes a foundation for early-life prediction and intervention in neurodevelopment.

Trends and risk factors for drug-resistant tuberculosis among children in Sichuan, China: A 10-year retrospective analysis, 2013-2022.

To investigate the status of the drug-resistant tuberculosis (DR-TB) among children in Sichuan, and to find out the risk factors and high-risk population related to drug resistance among children. The clinical data of tuberculosis patients ≤14 years old with culture-confirmed tuberculosis hospitalized in Chengdu Public Health Clinical Center from January 2013 through December 2022 were collected. Clinical data such as gender, age, ethnicity, history of anti-TB treatment, history of exposure to tuberculosis, nutritional status, and specific drug resistance of the children were collected and recorded. The drug resistance of children in different age groups (0-4 years old, 5-9 years old, 10-14 years old) and different periods (2013-2017 and 2018-2022) were grouped and compared. Logistic regression analysis was to analyze analysis of risk factors of drug resistance in children. A total of 438 children with culture-confirmed tuberculosis were screened. Among them, 26.19% (11/42) were 0 to 4 years old, 33.33% (22/66) were 5 to 9 years old, and 36.67% (121/330) were 10 to 14 years old among the resistant children. There was no statistically significant difference in the resistance rate among the 3 groups (P = .385). The proportions of DR-TB, monoresistant tuberculosis, polydrug-resistant tuberculosis were decreased during 2019 to 2022 compared with 2013 to 2017 (P < .0001). The resistance rates of drug resistant, monoresistant, polydrug-resistant, isoniazid-resistant, and rifampicin resistant during 2018 to 2022 were decreased compared with those from 2013 to 2017 (P < .05), but the multi-drug resistance rate was not decreased (P = .131, without statistical difference). The results of logistic regression analysis showed that male gender OR = 1.566 (95% CI 1.035-2.369), a history of antituberculosis therapy OR = 4.049 (95% CI 1.442-11.367), and pulmonary and extrapulmonary tuberculosis OR = 7.335 (95% CI 1.401-38.392) were risk factors for the development of drug resistance; but fever OR = 0.581 (95% CI 0.355-0.950) was Protective factor. The total drug resistance rate of children in Sichuan showed a downward trend, but the rate of multi-drug-resistant tuberculosis was still at a high level, and the form of drug resistance was still severe. Absence of fever, male, retreatment, and pulmonary concurrent with extrapulmonary tuberculosis are risk factors for DR-TB in children.

Experiences of women with gestational diabetes about fear of having diabetes in their babies: A qualitative study.

Gestational Diabetes Mellitus is an important public health problem that often occurs during pregnancy. This study aimed to reveal the experiences of women with gestational diabetes regarding the fear of having diabetes in their babies. A qualitative research method was carried out with a phenomenological approach. The interviews had a semi-structured form and were recorded on an online/face-to-face voice recorder, and thematic content analysis was performed on the MAXQDA22. Following the inclusion criteria, 12 women with gestational diabetes from the 2 hospitals in the study were included, and in this way, the study reached saturation. As a result of the interviews, 4 main themes and one subtheme were obtained from coding. The main themes were "sugar baby," "risky child," "raising a fearful baby," and "problematic gene carrier." From the main theme of "problematic gene carrier," the subtheme of "pregnancies with problematic genes" was created. This research sheds light on the problems women with gestational diabetes experience with themselves and their babies, and how they deal with these problems. Women with gestational diabetes try to accept and cope with the diagnosis. This research shows that the women were worried about both themselves and their babies. Illuminating the experiences of women with gestational diabetes is part of an integrative care approach that will help increase quality care and treatment in endocrine clinics. More qualitative studies are needed to learn more about the experiences of women with gestational diabetes in endocrine clinics.

Interlaboratory comparison of a multiplex immunoassay that measures human serum IgG antibodies against six-group B streptococcus polysaccharides.

Measurement of IgG antibodies against group B streptococcus (GBS) capsular polysaccharide (CPS) by use of a standardized and internationally accepted multiplex immunoassay is important for the evaluation of candidate maternal GBS vaccines in order to compare results across studies. A standardized assay is also required if serocorrelates of protection against invasive GBS disease are to be established in infant sera for the six predominant GBS serotypes since it would permit the comparison of results across the six serotypes. We undertook an interlaboratory study across five laboratories that used standardized assay reagents and protocols with a panel of 44 human sera to measure IgG antibodies against GBS CPS serotypes Ia, Ib, II, III, IV, and V. The within-laboratory intermediate precision, which included factors like the lot of coated beads, laboratory analyst, and day, was generally below 20% relative standard deviation (RSD) for all six serotypes, across all five laboratories. The cross-laboratory reproducibility was < 25% RSD for all six serotypes, which demonstrated the consistency of results across the different laboratories. Additionally, anti-CPS IgG concentrations for the 44-member human serum panel were established. The results of this study showed assay robustness and that the resultant anti-CPS IgG concentrations were reproducible across laboratories for the six GBS CPS serotypes when the standardized assay was used.

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.

BACKGROUND: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult onset) on the base of mutations of the CPT II gene. In affected subjects, long-chain acylcarnitines cannot be subdivided into carnitine and acyl-CoA, leading to their toxic accumulation in different organs. Neonatal form is the most severe, and all the reported patients died within a few days to 6 months after birth. Hereby, we report on a male late-preterm newborn who presented refractory cardiac arrhythmias and acute multiorgan (hepatic, renal, muscular) injury, leading to cerebral hemorrhage, hydrocephalus, cardiovascular failure and early (day 5 of life) to death. Subsequently, extended metabolic screening and target next generation sequencing (NGS) analysis allowed the CPT II deficiency diagnosis. CASE PRESENTATION: The male proband was born at 36+ 4 weeks of gestation by spontaneous vaginal delivery. Parents were healthy and nonconsanguineous, although both coming from Nigeria. Family history was unremarkable. Apgar score was 9/9. At birth, anthropometric measures were as follows: weight 2850 g (47th centile, -0.07 standard deviations, SD), length 50 cm (81st centile, + 0.89 SD) and occipitofrontal circumference (OFC) 35 cm (87th centile, + 1.14 SD). On day 2 of life our newborn showed bradycardia (heart rate around 80 bpm) and hypotonia, and was then transferred to the Neonatal Intensive Care Unit (NICU). There, he subsequently manifested many episodes of ventricular tachycardia, which were treated with pharmacological (magnesium sulfate) and electrical cardioversion. Due to the critical conditions of the baby (hepatic, renal and cardiac dysfunctions) and to guarantee optimal management of the arrythmias, he was transferred to the Pediatric Cardiology Reference Center of our region (Sicily, Italy), where he died 2 days later. Thereafter, the carnitines profile evidenced by the extended metabolic screening resulted compatible with a fatty acid oxidation defect (increased levels of acylcarnitines C16 and C18, and low of C2); afterwards, the targeted next generation sequencing (NGS) analysis revealed the known c.680 C > T p. (Pro227Leu) homozygous missense mutation of the CPTII gene, for diagnosis of CPT II deficiency. Genetic investigations have been, then, extended to the baby's parents, who were identified as heterozygous carriers of the same variant. When we meet again the parents for genetic counseling, the mother was within the first trimester of her second pregnancy. Therefore, we offered to the couple and performed the prenatal target NGS analysis on chorionic villi sample, which did not detect any alterations, excluding thus the CPT II deficiency in their second child. CONCLUSIONS: CPTII deficiency may be suspected in newborns showing cardiac arrhythmias, associated or not with hypertrophic cardiomyopathy, polycystic kidneys, brain malformations, hepatomegaly. Its diagnosis should be even more suspected and investigated in cases of increased plasmatic levels of creatine phosphokinase and acylcarnitines in addition to kidney, heart and liver dysfunctions, as occurred in the present patient. Accurate family history, extended metabolic screening, and multidisciplinary approach are necessary for diagnosis and adequate management of affected subjects. Next generation sequencing (NGS) techniques allow the identification of the CPTII gene mutation, essential to confirm the diagnosis before or after birth, as well as to calculate the recurrence risk for family members. Our report broads the knowledge of the genetic and molecular bases of such rare disease, improving its clinical characterization, and provides useful indications for the treatment of patients.

Evaluation of apparently healthy Egyptian infants and toddlers on the bayley-III scales according to age and sex.

BACKGROUND: Child development is shaped throughout the first years of life through the interaction of genetics and the environment. Bayley-III is valuably used to determine early developmental delay (DD). The aim of this study was to detect the differences in performance of a sample of apparently healthy Egyptian infants and toddlers on the Bayley-III scales in relation to their age and gender. METHODS: This was a cross-sectional study. Bayley scales were applied to 270 of the 300 recruited children following the inclusion criteria; to avoid potential risk factors affecting development. Assessment included cognitive, language and motor skills. Engaged children aged 18-42 months were divided into 4 age groups with six-month intervals. RESULTS: Approximately 78.4%, 76.2%, and 72% of the participants had average and above average scores in the cognitive, motor, and language domains, respectively. The language domain was characteristically impacted. The oldest age group (36-42 months) scored the highest means composite scores, while the 2nd group aged 24 - <30 months, scored the lowest means in the three evaluated domains. In general, girls had non-significantly higher composite scores than boys, with a small effect size (d = 0.2-0.4). In the language domain, girls aged 30 to < 36 months scored significantly higher composite scores than boys (p < 0.05), with a medium effect size (d = 0.73). CONCLUSION: The study indicates that the performance of apparently healthy Egyptian children on the Bayley III evaluation differs in relation to age and sex. The most vulnerable age group at potential risk of DD was children aged 24-30 months. Efforts must be directed to investigate the nutritional, physical, psychological and safety needs of this group. Attention must be paid to early childhood intervention programs that stimulate development, especially language development, and they must be tailored on the basis of age and gender. Gender-specific norms may be needed in the evaluation of language development.