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.

Comparative proteomic analysis of donor human milk treated by high-pressure processing or Holder pasteurization on undigested proteins across dynamic simulated preterm infant digestion.

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.

Hipotermia terapéutica: estudio descriptivo de una cohorte de 10 años en un hospital público de alta complejidad / Therapeutic hypothermia: A descriptive, cohort study conducted over 10 years at a tertiary care public hospital

Introducción. La hipotermia terapéutica (HT) reduce el riesgo de muerte o discapacidad en niños con encefalopatía hipóxico-isquémica (EHI) moderada-grave. Objetivo. Describir una población de pacientes con EHI que requirió HT y su evolución hasta el alta hospitalaria. Población y métodos. Estudio descriptivo de cohorte retrospectivo. Se analizaron todos los pacientes que ingresaron a HT entre 2013 y 2022. Se evaluaron datos epidemiológicos, clínicos, de monitoreo, tratamiento, estudios complementarios y condición al alta. Se compararon los factores de riesgo entre pacientes fallecidos y sobrevivientes, y de estos, los que requirieron necesidades especiales al alta (NEAS). Resultados. Se incluyeron 247 pacientes. Mortalidad: 11 %. Evento centinela más frecuente: período expulsivo prolongado (39 %). Inicio del tratamiento: mediana 5 horas de vida. Convulsiones: 57 %. Eritropoyetina intravenosa: 66,7 %. Patrón anormal de monitoreo de función cerebral: 52 %. Normalización del monitoreo: mediana 24 horas. Resonancia magnética patológica: 42 %. Variables predictoras de mortalidad: Sarnat y Sarnat grave, y ecografía patológica al ingreso. Conclusión. La mortalidad global fue del 11 %. Las derivaciones aumentaron en forma más evidente a partir del año 2018. El horario de inicio de HT fue más tardío que en reportes anteriores. Los signos neurológicos de gravedad según la escala de Sarnat y Sarnat y la ecografía cerebral basal patológica fueron predictores independientes de mortalidad al alta. Los pacientes con NEAS presentaron normalización del trazado del electroencefalograma de amplitud integrada más tardío. El hallazgo más frecuente en la resonancia fue la afectación de los ganglios basales. No se encontraron diferencias clínicas ni de complicaciones estadísticamente significativas entre los pacientes que recibieron eritropoyetina.

Introduction. Therapeutic hypothermia (TH) reduces the risk of death or disability in children with moderate to severe hypoxic ischemic encephalopathy (HIE). Objective. To describe a population of patients with HIE that required TH and their course until discharge. Population and methods. Retrospective, descriptive, cohort study. All patients admitted to TH between 2013 and 2022 were studied. Epidemiological, clinical, monitoring, and treatment data were assessed, together with supplementary tests and condition at discharge. Risk factors were compared between deceased patients and survivors; and, among the latter, those requiring special healthcare needs (SHCN) at discharge. Results. A total of 247 patients were included. Mortality: 11%. Most common sentinel event: prolonged second stage of labor (39%). Treatment initiation: median of 5 hours of life. Seizures: 57%. Intravenous erythropoietin: 66.7%. Abnormal pattern in brain function monitoring: 52%. Normalization of monitoring: median of 24 hours. Pathological magnetic resonance imaging: 42%. Predictor variables of mortality: severe Sarnat and Sarnat staging and pathological ultrasound upon admission. Conclusion. The overall mortality rate was 11%. Referrals increased more markedly since 2018. The time of TH initiation was later than in previous reports. Severe neurological signs as per the Sarnat and Sarnat staging and a pathological baseline cranial ultrasound were independent predictors of mortality at discharge. Patients with SHCN at discharge showed a normalized tracing in the amplitude-integrated electroencephalography performed later. The most common finding in the magnetic resonance imaging was basal ganglia involvement. No statistically significant differences were observed in terms of clinical characteristics or complications among patients who received erythropoietin.

Referencias argentinas de perímetro cefálico desde el nacimiento hasta los 19 años / Argentine reference charts for head circumference from birth to 19 years of age

Introducción. El perímetro cefálico (PC) es un indicador del crecimiento cerebral y es necesario contar con referencias de crecimiento que permitan determinar variaciones normales o patológicas. Objetivos. Presentar las primeras referencias argentinas de perímetro cefálico entre el nacimiento y los 19 años, y compararlas con las referencias de Nellhaus, utilizadas en nuestro país hasta la actualidad. Población y métodos. Para la construcción de estas referencias, se combinaron datos de la Encuesta Nacional de Nutrición y Salud 2018 y estudios transversales realizados entre 2004 y 2007 en las provincias de Buenos Aires y La Pampa, que incluyeron 8326 niños, niñas y adolescentes sanos. Las curvas de crecimiento fueron ajustadas con el método LMS. Para evaluar la magnitud de las diferencias entre estas referencias y las de Nellhaus, a diferentes edades, se graficaron los centilos 2, 50 y 98. Resultados. El PC mostró un incremento de tamaño variable con la edad, de mayor magnitud en los primeros años de vida, y un ligero incremento en la pubertad. Los valores del centilo 98 de las referencias argentinas fueron mayores que los de Nellhaus en todas las edades. Los valores del centilo 2 de la referencia nacional fueron menores que los de Nellhaus durante los primeros 2 años de vida, similares entre los 3 y 7 años, y mayores a partir de esta edad. Conclusiones. Las curvas argentinas describen adecuadamente el patrón de crecimiento del PC. Las diferencias halladas con la referencia de Nellhaus pueden atribuirse a cambios seculares.

Introduction. Head circumference (HC) is an indicator of brain growth; growth charts are necessary to determine normal or pathological variations. Objectives. To present the first Argentine HC reference charts between birth and 19 years of age and to compare them with the Nellhaus charts, which have been used in our country to date. Population and methods. These references were developed based on combined data from the National Survey on Nutrition and Health of 2018 and cross-sectional studies conducted between 2004 and 2007 in the provinces of Buenos Aires and La Pampa, which included 8326 healthy children and adolescents. Growth curves were adjusted using the LMS method. To assess the differences between these reference charts and the Nellhaus charts, at different ages, the 2nd, 50th, and 98th percentiles were plotted. Results. HC showed a variable increase in size with age, which was greater in the first years of life, and a slight increase at puberty. The values for the 98th percentile of the Argentine reference charts were higher than those of the Nellhaus charts at all ages. The values for the 2 nd percentile of the national reference were lower than those of the Nellhaus charts during the first 2 years of life, similar between 3 and 7 years of age, and higher after this age. Conclusions. The Argentine curves adequately describe the growth pattern of HC. The differences found with the Nellhaus charts may be attributed to secular changes.

Prevalencia de hipertirotropinemia neonatal comoindicador de deficiencia de yodo en la provincia de La Pampa: un análisis epidemiológico / Prevalence of high neonatal thyroid stimulating hormone levels as an indicator of iodine deficiency in the province of La Pampa: An epidemiological analysis

Introducción. El yodo desempeña un rol fundamental en el metabolismo, el crecimiento y el desarrollo humano. Durante el embarazo y la infancia, la demanda de este micronutriente aumenta considerablemente. La tirotropinemia neonatal (TSHn) aumentada, definida como TSHn ≥5 mUI/l, es un marcador que señala la deficiencia de yodo en una población cuando su prevalencia supera el 3 %. Objetivo. Determinar la prevalencia de TSHn ≥ 5 en La Pampa durante el período 2021-2022, analizar su correlación con diferentes variables y compararla con datos de una cohorte histórica. Población y métodos. Estudio transversal, de diseño descriptivo-analítico, sobre una población de neonatos nacidos en las cinco zonas sanitarias de la provincia de La Pampa durante los años 2021 y 2022. Resultados. De los 5778 neonatos evaluados, el 9,6 % presentó niveles de TSHn ≥5 mUI/l. El 70,4 % de estas mediciones fueron realizadas después del tercer día de vida. No se observaron diferencias significativas en la frecuencia de niveles elevados de TSHn según el año de nacimiento, peso al nacer o días hasta la extracción. Se registró una mayor prevalencia en el sexo masculino (10,6 % versus 8,5 %; p = 0,007) y entre los neonatos nacidos a término (9,8 % versus 6,6 %; p = 0,02). La prevalencia de hipertirotropinemia fue superior a la observada en una cohorte de 2001-2002. Conclusiones. La prevalencia de hipertirotropinemia neonatal en La Pampa durante los años 2021 y 2022 fue del 9,6 %, lo que indica un estado de deficiencia leve de yodo en la provincia, superior al reportado hace dos décadas.

Introduction. Iodine plays a key role in human metabolism, growth, and development. During pregnancy and childhood, the demand for this micronutrient increases notably. Increased neonatal thyroid stimulating hormone (nTSH) levels, defined as nTSH ≥ 5 mIUL, are a marker of iodine deficiency in a population if its prevalence is higher than 3%.Objective. To establish the prevalence of nTSH ≥ 5 in La Pampa in the 2021­2022 period, analyze its correlation with different variables, and compare it with data from a historical cohort.Population and methods. Cross-sectional, descriptive-analytical study in a population of newborn infants born in the 5 health regions of the province of La Pampa in 2021 and 2022. Results. Of  the  5778  assessed  newborn  infants,  9.6%  had  nTSH  levels  ≥  5  mIU/L. It was reported that 70.4% of these measurements were done after the third day of life. No significant differences were observed in the frequency of high nTSH levels by year of birth, birth weight, or days until samplecollection.A higher prevalence was observed among male infants (10.6% versus 8.5%; p = 0.007) and term infants (9.8% versus 6.6%; p = 0.02). The prevalence of high TSH levels was superior to that observed in the 2001­2002 cohort. Conclusions. The  prevalence of high nTSH levels in La Pampa during 2021 and 2022 was 9.6%, suggesting the presence of mild iodine deficiency in the population of this province, higher that what  had been reported 2 decades ago.

[Oral Feeding Readiness Assessment Tools for Preterm Infants].

Due to their underdeveloped physiological maturity, preterm infants often face challenges related to sucking, breathing, and swallowing coordination during initial feeding. This lack of coordination may lead to episodes of apnea and choking, resulting in unstable vital signs. Preterm infants with this issue must gradually learn oral feeding skills appropriate to their developmental stage. Registered nurses play a critical role in assessing the right time to transition from tube to oral feeding and in providing a safe and positive oral feeding experience. In this article, three validated assessment tools for feeding premature infants are introduced, accompanied by clinical research data demonstrating their use in clinical practice. These three tools include: (1) the Neonatal Oral Motor Assessment Scale, which is applied to evaluate oral motor skills using observations of nonnutritive sucking and the sucking state during the two minutes before feeding; (2) the Premature Oral Feeding Readiness Assessment Scale, which is used to assess readiness for oral feeding in preterm infants; and (3) the Early Feeding Skills assessment, which is used to evaluate the oral feeding skills of preterm infants. These tools aid nurses in helping preterm infants achieve independent oral feeding, facilitating earlier discharge and return to home. The clinical implications and effectiveness of these tools are also discussed to provide to nurses the means and confidence necessary to apply them appropriately in clinical settings.

Congenital Adrenal Hyperplasia: Experience from Dhaka Shishu (Children) Hospital, Bangladesh.

There is a scarcity of data on congenital adrenal hyperplasia (CAH) in Bangladesh. This study aimed to collect baseline information and identify relevant issues specific to the disease. We analyzed the retrospective analysis of medical records of pediatric patients attending Dhaka Shishu (Children) Hospital, Dhaka, for serum 17-Hydroxyprogesterone (17-OHP) measurement and documented to have CAH from December 2008 to December 2020. The diagnosis was supported by biochemical findings and confirmed by serum 17-OHP assay and karyotyping. The relevant clinical data were descriptively analyzed. A total of sixty (60) patients with the diagnosis of CAH were enrolled. Among them, 40(66.7%), 15(25.0%) and 5(8.3%) patients had salt-wasting (SW), simple virilizing (SV) and non-classical (NC) CAH, respectively. Karyotypically, 45(75.0%) were girls and 15(25.0%) were boys. At presentation, 30(50.0%) were initially assigned as female and 24(40.0%) were male and in 6(10.0%) cases, the sex was not assigned. All six cases of unassigned sex were proven to be female by karyotype, while ninecases assigned as males were proven to be females; overall, 15(25.0%) patients were incorrectly assigned sex at the initial presentation. Patients with SW form of disease presented at an earlier age (median age 1.0 months) than those with SV form (median age 12.0 months). Boys were diagnosed later than girls. CAH should be diagnosed earlier, irrespective of the sex of the child, to prevent death from the salt-losing crisis and proper gender assignment. In a resource-poor country like Bangladesh, we should emphasize building awareness among the general population and caregivers for early clinical identification of the cases and proper referral.

Pattern of ENT Diseases in Children: A Peripheral Military Hospital Based Study.

This study was aimed to find out the hospital based prevalence of paediatric ENT disorders in an ENT OPD of a peripheral military hospital of Bangladesh Armed Forces. This observational study was carried out at ENT out patient department of CMH Momenshahi, from 1st April 2017 to 31st March 2020. Irrespective of age and sex a total of 4612 children, between the ages of 0-14 years were included in this study. All types of ENT disorders were taken in to account. Data were obtained after ENT examination and necessary investigations. Total 4612 cases were studied. Male children (52.2%) were affected more and most of the children belongs the 6-10 years age group (44.4%).Throat related disorder (40.7%) were predominant followed by ear (34.8%). The most common ENT disorders were Chronic Tonsillitis (21.8%) followed by acute otitis media (16.1%) and pharyngitis (9.8%). Rate of Chronic otitis media (COM) was only 46(1%). ENT diseases are one of the major health problems among children. In addition to improved health education, socioeconomic status and better access to health care facilities; provision of early ENT specialist consultation may significantly reduce chronic or recurring symptoms and long term morbidities of common ENT disorders in children.

Traditional Eye Cosmetics and Cultural Powders as a Source of Lead Exposure.

OBJECTIVES: We aimed to describe the characteristics of traditional eye cosmetics and cultural powders, including the types, lead concentrations, origin, and regional variation in product names, and assess the differences in blood lead levels (BLLs) between product users and non-users. METHODS: We analyzed 220 samples of traditional eye cosmetics and cultural powders collected in New York City between 2013 and 2022 during lead poisoning investigations and store surveys. We compared the BLLs of children who used these products with those of non-users. RESULTS: Lead levels in traditional eye cosmetics surma and kohl were much higher than levels in kajal and other cultural powders. Although the terminologies surma, kohl, and kajal are often used interchangeably, findings suggest regional variations in the product names. The majority of the surma in this study were from Pakistan, kohl was from Morocco, and kajal was from India. The results also show that these products can contribute to elevated BLLs in children. CONCLUSIONS: Our study reveals that traditional eye cosmetics and cultural powders are used among children as young as newborns, and exposure to these products can significantly add to their lead body burden. The study findings also reveal that lead concentrations in these products can vary by product type and product names can vary by region. Public health officials must be cognizant of these unique variations and use culturally appropriate terminologies for these types of products because such distinctions can be critical when conducting risk assessments, risk communication, and risk reduction activities.

Severe Congenital Lead Poisoning in Siblings.

Congenital lead toxicity is rare. Lead freely crosses the placenta, therefore, placing the developing fetus at a higher risk for lead toxicity. This can lead to adverse consequences, such as spontaneous abortion, low birth weight, low IQ, and neurodevelopmental impairment. We present a rare case of siblings born to a mother with pica behaviors. Her venous lead level was 42 µg/dL at the time of disclosure. The repeat venous level at delivery 2 weeks later was 61 µg/dL. The infant's venous level shortly after birth was 89 µg/dL. The neonate was transferred to the NICU, where he received 9 doses of intramuscular dimercaprol and 5 days of intravenous Ca2Na2EDTA. Seventy-two hours after completing chelation, the blood lead level rebounded to 46 µg/dL. A 19-day course of dimercaptosuccinic acid was then initiated. As of 12 months of age, he has not required additional chelation. Shortly after, the mother conceived another child, who was born prematurely at 29 weeks. Twelve days before delivery, the mother's lead level was 30 ug/dL. The infant's lead level was 32 ug/dL at the time of delivery. The infant's lead trended down without requiring chelation. Both children have since demonstrated developmental delays and have needed early intervention services.

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.

Role of the biological active components of human milk on long-term growth and neurodevelopmental outcome.

Human Milk is the best option for infant feeding; and for this reason, it should be promoted, protected, and supported. HM is an individual-specific-dynamic biofluid, characterized by an extreme variability in its composition. A wealth of literature has investigated how HM is related to healthy development. An association between HM composition, including nutrients and growth-related hormones as well as other bioactive components, and short-term and long-term infant outcomes could support this statement; however, the evidence is limited. In fact, HM composition is difficult to examine as it is dynamic and changes within a single feed, diurnally, according to stage of lactation and between and within populations. The aim of this review is summarizing only the innovative knowledge on the association between HM composition and long-term outcomes: infant growth and neurodevelopment. In this specific contest, macronutrients and historical biological component with well recognized effect were excluded (i.e. LCPUFA, DHA, iodine). Revised articles have been found in MEDLINE using breast milk-related outcomes, neurodevelopment, infant growth, breast milk-related biological factors, biomarkers, biological active components, and constituents as keywords. Moreover, we focus our search on the latest research results.

Pharmacokinetic model-guided enoxaparin dosing in the Neonatal ICU: Retrospective cohort study to plan for prospective feasibility trial.

Traditional milligram per kilogram (mg/kg) dosing of enoxaparin in neonates frequently fails to achieve target anti-Xa levels promptly, necessitating repeated laboratory monitoring and dose adjustments. This study investigated whether a personalized dosing strategy based on predicted individual clearance and volume of distribution could improve outcomes, comparing standard-of-care (SOC) mg/kg dosing to pharmacokinetic (PK) model-informed precision dosing (MIPD). A retrospective analysis was conducted on hospitalized neonates treated with enoxaparin at less than 44 weeks postmenstrual age from 2019 to 2022. Data on demographics, drug dosing, PK model covariates, and clinical outcomes were extracted from electronic health records and analyzed using the Pumas-AI Lyv dosing tool. The primary focus was on comparing the initial SOC dose to the MIPD-recommended dose. The secondary outcome measured was the time required to achieve therapeutic anti-Xa levels. The study included 168 neonates with a median postnatal age of 15 days (range 1-149) and a median dosing weight of 3.1 kg (range: 0.82-5.2). MIPD-recommended initial doses were 20%-60% higher than SOC doses in 32% of the cases and over 60% higher in 11% of cases. Neonates who received SOC doses that were much lower than the MIPD recommendation showed the longest delays in reaching therapeutic anti-Xa levels. The results indicate that PK model-informed of enoxaparin dosing leads to higher initial dosages than SOC in neonates, potentially reducing the time to therapeutic anti-Xa levels. These findings are being utilized to define dosing limits for a prospective trial of MIPD in neonatal intensive care settings.

Accelerating rare disease detection: an experience of multidisciplinary team model in undiagnosed diseases program in a children's hospital.

Background: A definite diagnosis goes undiscovered for a percentage of children with undiagnosed disorders, with significant medical, psychological, and social effects. Other than specialized clinical centers, exceptional molecular studies, common procedures, and devoted activities at the national and international levels, children with complex undiagnosed disorders require innovative approaches. Methods: In March 2016, Children's hospital of Fudan university represented the Children's Undiagnosed Diseases Program (UDP). The purpose of this study is to describe the project findings and underline the critical significance of multidisciplinary teamwork in China's undiagnosed rare illnesses program. We investigated the 758 cases in our UDP system retrospectively. Demographic information, laboratory test results, and genetic information were gathered. Results: Between January 2017 and December 2021, 758 cases were examined. Males made up 436 (57.5%) of the total. Over half of the patients were children under the age of five. The average patient course time preceding admission to UDP was 6.0 months (95% CI 10.512.6). These patients visited an average of 1.8 clinics during their diagnostic journey. Except for 69 individuals (90.9%), all had more than one presenting symptom in various organs: 460 (60.7%) had neurology difficulties, 151 (19.9%) had endocrine problems, and 141 (18.6%) had immunology problems. UDP has a diagnosis rate of 61.3%. Genetic testing was performed on 469 of the 758 patients, for a genetic diagnosis rate of 15.8%. The UDP method has a sensitivity of 94.5%, a specificity of 86.4%, a positive predictive value of 92.8%, and an negative predictive value of 89.5%. Conclusion: Our UDP targets an unmet need, namely the diagnosis of patients with complicated, multisystem illnesses. Using a multidisciplinary team model approach, this UDP pilot study achieved a reasonable diagnosis success rate, increasing the possibility of more diagnoses and new scientific discoveries of difficult and rare diseases.

Our experience in repairs using the native esophagus such as the Foker and Gazi methods in the management of patients with long-gap esophageal atresia.

This study aimed to share our experience with infants with repaired long-gap esophageal atresia (LGEA) using the native esophagus and Foker and Gazi methods. We retrospectively analyzed the medical records of 10 patients with LGEA (six with pure esophageal atresia [EA], and four with distal trachea-esophageal fistula [TEF] + EA). The mean length between the esophageal pouches was 5.9 cm (4-9 cm). Five Foker methods, three Gazi methods, and two delayed primary repairs after a daily bougie were performed an average of 19.3 days after the first surgery and 26.4 days after the final esophageal anastomosis. For the Foker technique, it was 36.1 days. Their first oral intake was 10.2 days, and their transition to full enteral food was 26.2 days. An esophageal leak was detected in six patients. Fundoplication and dilatations were performed for three and four patients, respectively. For good results, LGEA patients should be operated on at least under the supervision of an experienced surgeon in specialized centers, and the team should be familiar with the techniques for using the native esophagus.

Analysis of the Factors Affecting the Male-Female Sex Ratio of Babies Born through Assisted Reproductive Technology.

BACKGROUND: Until now, the sex ratio in a population is believed to be relatively stable with no male/female preponderance. There has been an increasing amount of evidence to suggest that assisted conception may significantly impact on sex ratio (SR). Several factors have been suggested to affect SR such as parental variables (paternal race, maternal age, and body mass index-(BMI), methods of fertilisation (in-vitro fertilisation/intracytoplasmic sperm injection), stage of embryo transfer (cleavage/blastocyst), type of IVF cycle (fresh/cryopreserved), medications used for controlled ovarian stimulation, poor sperm motility, and even culture media. OBJECTIVES: This study aims to investigate the potential impact of the different ART procedures on sex ratio. It will also explore the relationship between paternal race, maternal age and body mass index BMI on sex ratio. METHODS: A retrospective cohort study from January 2017 to December 2023. Participants were women who had successful ART and delivery at Ninewells Assisted Conception Unit (NACU) Dundee and ART centre of Lagos University Teaching Hospital, Nigeria. RESULTS: Overall, 294 (66.2%) of the case records and 150 (33.8%) were evaluated from NACU and LUTH respectively. More male infants 244 (66.8%) were delivered following pregnancies conceived with blastocyst embryo stage transfer when compared with female infants which stood at 121 (33.2%). Concerning cleavage embryo stage transfer, 56 (70.9%) were in favour of female newborns while males accounted for 23 (29.1%). CONCLUSION: The study revealed that there is an increase in the proportion of male babies born following certain assisted conception techniques such as blastocyst stage embryo transfer and IVF while more female babies were born when cleavage stage embryos were transferred or when ICSI was used as a method of fertilisation.

CONTEXTE: Jusqu'à présent, le rapport de masculinité au sein d'une population est considéré comme relativement stable, sans prépondérance masculine/féminine. De plus en plus de preuves suggèrent que la procréation assistée peut avoir un impact significatif sur la sex-ratio (SR). Plusieurs facteurs ont été suggérés pour affecter la SR, tels que les variables parentales (race paternelle, âge maternel et indice de masse corporelle-IMC), les méthodes de fécondation (fécondation in vitro/injection intracytoplasmique de spermatozoïdes), le stade du transfert d'embryon (clivage/blastocyste), le type de Cycle de FIV (frais/cryoconservé), médicaments utilisés pour une stimulation ovarienne contrôlée, mauvaise motilité des spermatozoïdes et même milieux de culture. OBJECTIFS: Cette étude vise à étudier l'impact potentiel des différentes procédures de TAR sur le sex-ratio. Il explorera également la relation entre les variables parentales telles que la race paternelle, l'âge de la mère et l'indice de masse corporelle (IMC) sur le sex-ratio. Méthodes : Une étude rétrospective de janvier 2017 à décembre 2023. Les participantes étaient des femmes qui ont eu un TAR et un accouchement réussis à l'unité de conception assistée de Ninewells (NACU) de Dundee et au centre de TAR de l'hôpital universitaire de Lagos, au Nigeria. RESULTATS: Au total, 294 (66,2 %) des dossiers de cas et 150 (33,8 %) ont été évalués respectivement par le NACU et le LUTH. Un plus grand nombre de nourrissons de sexe masculin, 244 (66,8 %), ont accouché à la suite de grossesses conçues avec transfert de stade embryonnaire de blastocyste, par rapport aux nourrissons de sexe féminin, qui s'élevaient à 121 (33,2 %). Concernant le transfert de stades embryonnaires par clivage, 56 (70,9%) étaient en faveur des nouveau-nés de sexe féminin tandis que les mâles représentaient 23 (29,1%). CONCLUSION: L'étude a révélé qu'il y a une augmentation de la proportion de bébés mâles nés suite à certaines techniques de procréation assistée telles que le transfert d'embryons au stade blastocyste et la FIV, tandis qu'un plus grand nombre de bébés femelles sont nés lorsque des embryons au stade clivage ont été transférés ou lorsque l'ICSI a été utilisée comme méthode de fertilisation. MOTS-CLÉS: Ratio de sexes, ICSI, FIV, Blastocyste, Clivage, Race, IMC, Embryon congelé/frais.

[ENT manifestations of congenital cytomegalovirus infection]. / Les atteintes ORL de l'infection ­congénitale à cytomégalovirus.

Cytomegalovirus is the most common cause of congenital infection worldwide. 90 % of children infected in utero are born without symptoms, but 15 % of them will develop disorders within the first five years of life. The most common disorders affect the inner ear, resulting in sensorineural hearing loss and/or vestibular dysfunction (VD). VD is often unrecognized and confused with conditions -affecting the central nervous system. It can cause delays in psychomotor development and predispose to overall developmental delay. Early diagnosis and treatment are essential to prevent or limit these sequelae. Antiviral treatment during the pre- and neonatal periods should be considered.

Le cytomégalovirus est la cause la plus fréquente d'infection congénitale dans le monde. 90 % des enfants infectés in utero naissent sans symptôme, mais 15 % d'entre eux vont développer des atteintes au cours des cinq premières années de vie. Les plus fréquentes touchent l'oreille interne, engendrant une­surdité neurosensorielle et/ou une dysfonction vestibulaire (DV). La DV est souvent méconnue et confondue avec des atteintes du système nerveux central. Elle peut provoquer des retards du ­développement psychomoteur et prédisposer à un retard global du développement. Un diagnostic et une prise en charge précoces sont essentiels pour prévenir ou limiter ces séquelles. Un traitement antiviral en période pré et néonatale doit être considéré.

New ultrasound features in diagnosing fetal anal atresia: a multicenter prospective cohort study.

This research aimed to assess the validity of ultrasound scans with new features in detecting fetal anal atresia and verify the effectiveness of these new features. Additionally, we aimed at investigating the perinatal incidence of anal atresia. This multicenter prospective study recruited 94,617 normal gravidas and 84 gravidas with anal atresia fetuses. The gold standard for diagnosing perinatal anal atresia is routine neonatal anus examinations. The incidence calculation was based on the results of the gold standard. The validity of our new approach was evaluated via a diagnostic test involving all 94,701 subjects. The effectiveness of our new features was assessed through an ablation study in a randomly established new dataset, with the ratio of anal atresia to non-anal atresia cases of 1:4. The annual perinatal incidence of anal atresia between 2019 and 2023 ranges from 0.57‰ to 1.29‰. Our new method performed great regarding the Youden index, diagnostic odds ratio (DOR), area under the curve (AUC) of the receiver operating characteristic curve (ROCC), AUC of the precision-recall curve (PRC), F1-score, and Cramer's V. In the ablation study, our new approach surpassed its competitors concerning Youden index, DOR, AUC of the ROCC, and AUC of the PRC. Ultrasound scans show high validity and clinical value in detecting fetal anal atresia. Our new ultrasound features significantly promote the detection of fetal anal atresia.

Reducing stunting and underweight through mother's birth spacing: evidence from Ghana.

BACKGROUND: Researchers over the years have underscored the role of birth spacing on maternal health, however, inadequate maternal repletion due to shorter birth intervals could also affect the health of the child. Even so, limited studies exist on the linkage between birth spacing and child nutrition. This study examines the association between birth spacing and child stunting and underweight using the 2014 Ghana Demographic and Health Survey. METHODS: The study sourced data on 1, 904 children less than 59 months from the 2014 Ghana Demographic and Health Survey. The study employed bivariate analysis and logistic regressions to establish the association between birth spacing, and child stunting and underweight. RESULTS: The analyses reveal that childbirth spacing between 24 and 35 months (OR = 0.62, 95% CI: 0.38-0.99; p < 0.05), 36 to 47 months (OR = 0.42, 95% CI: 0.25-0.70; p < 0 0.01), and beyond 47 months (OR = 0.47, 95% CI: 0.28-0.78; p < 0.01) have lower odds of child stunting than children with birth spacing less than 24 months. Children with birth spacing between 24 and 35 months (OR = 0.53, 95% CI: 0.29-0.98; p < 0.05), 36 to 47 months (OR = 0.44, 95% CI: 0.22-0.90; p < 0.01) and beyond 47 months (OR = 0.49, 95% CI: 0.26-0.94; P < 0.05) have lower odds of being underweight than those with birth spacing less than 24 months. CONCLUSION: The study reveals that mothers with a birth spacing of at least two to three years compared to their counterparts with less than two years of birth spacing have lower odds of having a stunted and underweight child under age five. The study recommends that Ghana Health Service and other healthcare providers should educate mothers on the gains of birth spacing of at least two years on their children.