Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.

Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acid metabolism caused by a defect in the branched-chain α-ketoacid dehydrogenase (BCKD) complex (OMIM #248600). The hallmark presentation is encephalopathic crisis in neonates, but can also present with metabolic decompensation, developmental delays, and feeding difficulties. Biochemical evidence for MSUD includes elevated branched-chain amino acids (BCAA) and the pathognomonic presence of alloisoleucine. The BCKD complex contains several subunits associated with autosomal recessive MSUD, while its regulatory proteins have less well-defined disease associations. We report on two families with the same BCKDK variant (c.1115C>G (p.Thr372Arg)). Probands were detected on newborn screening and demonstrated biochemical evidence of MSUD. The variant was identified in reportedly asymptomatic parents and additional family members who had elevated BCAA and alloisoleucine, following an autosomal dominant pattern of inheritance. To better define the functional effect of the variant on the kinase, we completed molecular modeling using sequence-based (2D), structural-based (3D), and dynamic-based (4D) analyses. The BCKDK variant modeling indicated a gain-of-function which leads to impaired BCAA catabolism consistent with the biochemical evidence in this cohort. Combining the evidence gained from molecular modeling with the absence of metabolic decompensation in our patients and several adult family members, despite encountering stressors typically problematic in classic MSUD, we suggest that heterozygous gain-of-function variants in BCKDK may represent a novel biochemical phenotype of MSUD with a benign clinical course.

Evaluating the real-world implementation of the Family Nurse Partnership in England: a data linkage study.

Background/objectives: The Family Nurse Partnership is an intensive home visiting programme for adolescent mothers. We aimed to evaluate the effectiveness of the Family Nurse Partnership on outcomes up to age 7 using national administrative data. Design: We created a linked cohort of all mothers aged 13-19 using data from health, educational and children's social care and defined mothers enrolled in the Family Nurse Partnership or not using Family Nurse Partnership system data. Propensity scores were used to create matched groups for analysis. Setting: One hundred and thirty-six local authorities in England with active Family Nurse Partnership sites between 2010 and 2017. Participants: Mothers aged 13-19 at last menstrual period with live births between April 2010 and March 2019, living in a Family Nurse Partnership catchment area and their firstborn child(ren). Interventions: The Family Nurse Partnership includes up to 64 home visits by a family nurse from early pregnancy until the child's second birthday and is combined with usual health and social care. Controls received usual health and social care. Main outcome measures: Indicators of child maltreatment (hospital admissions for injury/maltreatment, referral to social care services); child health and development (hospital utilisation and education) outcomes and maternal hospital utilisation and educational outcomes up to 7 years following birth. Data sources: Family Nurse Partnership Information System, Hospital Episode Statistics, National Pupil Database. Results: Of 110,520 eligible mothers, 25,680 (23.2%) were enrolled in the Family Nurse Partnership. Enrolment rates varied across 122 sites (range: 11-68%). Areas with more eligible mothers had lower enrolment rates. Enrolment was higher among mothers aged 13-15 (52%), than 18-19 year-olds (21%). Indicators of child maltreatment: we found no evidence of an association between the Family Nurse Partnership and indicators of child maltreatment, except for an increased rate of unplanned admissions for maltreatment/injury-related diagnoses up to age 2 for children born to Family Nurse Partnership mothers (6.6% vs. 5.7%, relative risk 1.15; 95% confidence interval 1.07 to 1.24). Child health and developmental outcomes: there was weak evidence that children born to Family Nurse Partnership mothers were more likely to achieve a Good Level of Development at age 5 (57.5% vs. 55.4%, relative risk 1.05; 95% confidence interval 1.00 to 1.09). Maternal outcomes: There was some evidence that Family Nurse Partnership mothers were less likely to have a subsequent delivery within 18 months of the index birth (8.4% vs. 9.3%, relative risk 0.92; 95% confidence interval 0.88 to 0.97). Younger and more vulnerable mothers received higher numbers of visits and were more likely to achieve fidelity targets. Meeting the fidelity targets was associated with some outcomes. Limitations: Bias by indication and variation in the intervention and usual care over time and between areas may have limited our ability to detect effects. Multiple testing may have led to spurious, significant results. Conclusions: This study supports findings from evaluations of the Family Nurse Partnership showing no evidence of benefit for maltreatment outcomes measured in administrative data. Amongst all the outcomes measured, we found weak evidence that the Family Nurse Partnership was associated with improvements in child development at school entry, a reduction in rapid repeat pregnancies and evidence of increased healthcare-seeking in the mother and child. Future work: Future evaluations should capture better measures of Family Nurse Partnership interventions and usual care, more information on maternal risk factors and additional outcomes relating to maternal well-being. Study registration: The study is registered as NIHR CRN Portfolio (42900). Funding: This award was funded by the National Institute of Health and Care Research (NIHR) Health and Social Care Delivery Research programme (NIHR award ref: 17/99/19) and is published in full in Health and Social Care Delivery Research; Vol. 12, No. 11. See the NIHR Funding and Awards website for further award information.

The Family Nurse Partnership is an intensive home visiting service that offers first-time young mothers up to 64 visits with a family nurse from pregnancy to their child's second birthday. The Family Nurse Partnership aims to improve birth outcomes, child health and development and promote economic self-sufficiency among young mothers. Previous research in England found no differences in birthweight, maternal smoking, repeat pregnancies or accident and emergency attendances between mothers who did or did not take part in the Family Nurse Partnership. However, children in the Family Nurse Partnership group had better measures of development at school age. We aimed to add to the evidence from earlier studies, by using electronic records that are routinely collected as part of health, education and social care services, to compare outcomes for around 26,000 mothers enrolled in the Family Nurse Partnership between 2010 and 2019 with similar mothers who were not enrolled. This study showed that around one in four mothers who were eligible for the programme were enrolled in the Family Nurse Partnership, and family nurses gave priority to mothers who were younger, more deprived or who had other markers of vulnerability (e.g. a history of substance misuse violence, self-harm or mental health conditions). We found no evidence of a difference in indicators of child maltreatment between mothers who were enrolled in the Family Nurse Partnership and those who were not enrolled, but we found weak evidence to suggest that children born to mothers enrolled in the Family Nurse Partnership were more likely to achieve a Good Level of Development at school entry (age 5). We also saw that mothers enrolled in the Family Nurse Partnership were less likely than those who were not enrolled to have their next child within 18 months of their first child. More research is needed to understand which elements of intensive home visiting services work best, for whom and when. This will help inform decisions about whether it is better to offer highly intensive services for a small portion of the target population or to extend and enhance existing universal health visiting services to better support all adolescent mothers.

Cerebral venous thrombosis and deep medullary vein thrombosis: Padua experience over the last two decades.

BACKGROUND: Cerebral venous thrombosis (CVT) is a cerebrovascular disorder that accounts for 20% of perinatal strokes. CVT incidence ranges from 0.67 to 1.12 per 100,000 newborns, while the incidence of "deep medullary vein thrombosis" (DMVT), a subtype of CVT, cannot be accurately estimated. This study aims to analyze the case history of CVT in the neonatal period, with a specific focus on DMVT. MATERIALS AND METHODS: Newborns diagnosed with CVT, with or without DMVT, between January 2002 and April 2023, were collected using the Italian Registry of Infantile Thrombosis (RITI). Cerebral MRIs were reviewed by an expert neuroradiologist following a standardized protocol. RESULTS: Forty-two newborns with CVT were identified, of which 27/42 (64%) had CVT, and the remaining 15/42 (36%) had DMVT (isolated DMVT in 9/15). Symptom onset occurred in the first week of life (median 8 days, IQR 4-14) with a male prevalence of 59%. The most common risk factors for CVT were complicated delivery (38%), prematurity (40%), congenital heart diseases (48%), and infections (40%). Seizures were the predominant presenting symptom in 52% of all cases. Hemorrhagic infarction was higher in cases with isolated DMVT (77%) compared to patients with CVT without DMVT (p = 0.013). Antithrombotic treatment was initiated in 36% of patients. Neurological impairment was observed in 48% of cases at discharge, while 18 out of 31 infants (58%) presented one or more neurological deficits at long term follow up.     Conclusion: DMVT occurs in over a third of neonates with CVT. Multicentric studies are essential to establish standardized protocols for therapy, neuroimaging, and follow-up in these patients.

Confluence of Newborn's sex and their Mother's characteristics resulting in fetal macrosomia among Indian neonates.

BACKGROUND: A newborn's birth weight ≥4000 g is defined as fetal macrosomia, which is recognized as a reproductive and serious child health concern. OBJECTIVES: Our study aims to reveal existence of any connection between maternal factors and newborn sex in giving birth to newborn ≥4000 g in an Indian context. METHODS: Data were drawn from the fifth round of National Family Health Survey (NFHS-5). A cross-sectional observational study was carried out with a total of 152,827 children born to women in reproductive age group (15-49) who had most recent live birth in the five years preceding the survey. Descriptive analyses, cross-tabulation, test of association and multivariate logistic regression analyses were performed. RESULTS: In India, the prevalence of macrosomia was found in 3.8% of the total study participants. Considering newborn characteristics, fetal macrosomia was more prevalent among male neonates than female (AOR: 0.730; 95% CI: 0.687-0.775). Regarding maternal characteristics, overweight (AOR: 1.468; 95% CI: 2.042-2.559) and obese (AOR: 2.764; 95% CI: 2.394-3.192) motherswith gestational diabetes (AOR: 1.731, 95% CI: 1.385-2.164) and hypertension (AOR: 1.288, 95% CI: 1.116-1.488) were more likely to giving birth of macrosomic babies. Multiparous mothers (AOR: 1.207, 95% CI: 1.128-1.293) and women who did not undergo proper antenatal care (ANC) follow up had also greater risk of developing fetal macrosomia. Muslim women (AOR: 1.223, 95% CI: 1.119-1.338), and women belonging to a tribe (AOR: 1.476, 95% CI: 0.922-2.361) were significantly associated with the risk of having newborn ≥4000 g. CONCLUSION: Emphasis should be given on counseling for mothers for desired weight management before and during pregnancy, gestational diabetes and hypertension screening, physical activity during pregnancy, adequate ANC follow up and balanced dietary intake among pregnant women.

"When You Look at This Chart, That Is Not My Whole Life": Caregiver Perspectives to Inform Improved Primary Care Practice and Outcomes.

OBJECTIVE: Worsening rates of infant and maternal mortality in the United States serve as an urgent call for multi-modal intervention. Infant Well Child Visits (WCVs) provide an opportunity for prevention, however not all infants receive the recommended schedule of visits, with infants of low-income and Black families missing a higher portion of WCVs. Due to diverse experiences and needs of under-resourced communities throughout the United States, caregiver voice is essential when designing improvement efforts. METHODS: Purposeful sampling and interviewing of 10 caregivers in Cincinnati, OH was performed by community peer researchers. Interview transcripts were evaluated by the research team, with identification of several important themes. RESULTS: Nine out of 10 caregivers self-identified as Black. All young children of the interviewed caregivers had Medicaid as their insurance provider. All interviews highlighted rich perspectives on caregiver hopes for their child, family, and selves. Establishing trust through empathy, shared decision making, and the nurturing of interpersonal patient-practitioner relationships is crucial for fostering a positive healthcare experience. Levels of mistrust was perceptibly high across several interviews, with lack of racial concordance between medical provider and family exacerbating the issue for some caregivers. Caregivers voiced a tendency to rely on family and community members for when to seek out health care for their children, and additionally cited racism and perceptions of being rushed or judged as barriers to seeking further care. CONCLUSION: This study emphasizes the importance of being community-informed when considering interventions. Prior research on the topic of missed WCV's often focused on material resource availability and limitations. While that was commented on by caregivers in this study as well, equal-if not more-attention was directed toward interpersonal relationship formation, the presence or absence of trust between practitioner and caregiver, and the importance of social-emotional support for caregivers. We highlight several opportunities for systemic improvements as well as future directions for research.

Evaluation of an obstetric and neonatal care upskilling program for community health workers in Papua New Guinea.

BACKGROUND: 60% of women in Papua New Guinea (PNG) give birth unsupervised and outside of a health facility, contributing to high national maternal and perinatal mortality rates. We evaluated a practical, hospital-based on-the-job training program implemented by local health authorities in PNG between 2013 and 2019 aimed at addressing this challenge by upskilling community health workers (CHWs) to provide quality maternal and newborn care in rural health facilities. METHODS: Two provinces, the Eastern Highlands and Simbu Provinces, were included in the study. In the Eastern Highlands Province, a baseline and end point skills assessment and post-training interviews 12 months after completion of the 2018 training were used to evaluate impacts on CHW knowledge, skills, and self-reported satisfaction with training. Quality and timeliness of referrals was assessed through data from the Eastern Highlands Province referral hospital registers. In Simbu Province, impacts of training on facility births, stillbirths and referrals were evaluated pre- and post-training retrospectively using routine health facility reporting data from 2012 to 2019, and negative binomial regression analysis adjusted for potential confounders and correlation of outcomes within facilities. RESULTS: The average knowledge score increased significantly, from 69.8% (95% CI:66.3-73.2%) at baseline, to 87.8% (95% CI:82.9-92.6%) following training for the 8 CHWs participating in Eastern Highlands Province training. CHWs reported increased confidence in their skills and ability to use referral networks. There were significant increases in referrals to the Eastern Highlands provincial hospital arriving in the second stage of labour but no significant difference in the 5 min Apgar score for children, pre and post training. Data on 11,345 births in participating facilities in Simbu Province showed that the number of births in participating rural health facilities more than doubled compared to prior to training, with the impact increasing over time after training (0-12 months after training: IRR 1.59, 95% CI: 1.04-2.44, p-value 0.033, > 12 months after training: IRR 2.46, 95% CI:1.37-4.41, p-value 0.003). There was no significant change in stillbirth or referral rates. CONCLUSIONS: Our findings showed positive impacts of the upskilling program on CHW knowledge and practice of participants, facility births rates, and appropriateness of referrals, demonstrating its promise as a feasible intervention to improve uptake of maternal and newborn care services in rural and remote, low-resource settings within the resourcing available to local authorities. Larger-scale evaluations of a size adequately powered to ascertain impact of the intervention on stillbirth rates are warranted.

Comparison of Three Methods of Umbilical Cord Management in Late Preterm and Term Newborns on Hemoglobin and Ferritin Levels at Six Weeks of Age: A Randomized Controlled Trial.

BACKGROUND: Umbilical cord milking (UCM) and delayed cord clamping (DCC) are strategies that improve the hemodynamic condition of the newborn and also increase the storage of iron. This study aimed to compare the effects of DCC with or without milking in late preterm and term neonates at different time intervals after birth (60, 120, and 180 seconds) on hematological and hemodynamic parameters in neonates at six weeks of age. MATERIALS AND METHODS: In this double-arm, parallel-group, triple-blind, and active-controlled trial, all 150 eligible neonates were randomized with allocation concealment into three groups: Group A (DCC with UCM at 60 seconds), Group B (DCC with UCM at 120 seconds), and Group C (only DCC for 180 seconds). Hemodynamic parameters were recorded and compared during the first 48 hours, and hematological parameters were compared at six weeks of age. RESULTS: At six weeks, a significant difference in hemoglobin levels was noted between Groups A, B, and C (p<0.001). The difference in serum ferritin values at six weeks was also statistically significant in comparisons across all three groups (p=0.003). Regarding secondary outcomes examined, hemodynamic parameters and the incidence of neonatal hyperbilirubinemia were found to be comparable at 48 hours after birth. CONCLUSION: DCC followed by UCM at 120 seconds and DCC till 180 seconds proves superior to DCC with UCM at 60 seconds in preserving elevated hemoglobin levels and iron stores in neonates at six weeks of age. DCC for 180 seconds yielded comparable results, followed by UCM at 120 seconds. All three methods are considered safe and effective without compromising the neonate's hemodynamics.

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function. Biallelic pathogenic variants in FOXN1 cause severe combined immunodeficiency (SCID). More recently, heterozygous variants in FOXN1, identified by restricted gene panels, were also implicated with causing a less severe and variable immunodeficiency. Objective: We undertook longitudinal follow-up and advanced genetic investigations, including whole exome sequencing and whole genome sequencing, of newborns with a heterozygous variant in FOXN1. Methods: Five patients (3 female, 2 male) have been followed since they were first detected with low T-cell receptor excision circles during newborn screening for SCID. Patients underwent immune evaluation as well as genetic testing, including a primary immunodeficiency panel, whole exome sequencing, and whole genome sequencing in some cases. Results: Median follow-up time was 6.5 years. Initial investigations revealed low CD3+ T lymphocytes in all patients. One patient presented with extremely low lymphocyte counts and depressed phytohemagglutinin responses leading to a tentative diagnosis of SCID. Over a period of 2 years, CD3+ T-cell counts rose, although in some patients it remained borderline low. One of 5 children continues to experience recurrent upper respiratory infections and asthma episodes. The remaining are asymptomatic except for eczema in 2 of 5 cases. Lymphocyte proliferation responses to phytohemagglutinin were initially low in 3 patients but normalized by age 10 months. In 3 of 5 cases, T lymphocyte counts remain low/borderline low. Conclusion: In cases of monoallelic FOXN1 variants, using whole exome sequencing and whole genome sequencing to rule out possible other significant pathogenic variants allowed us to proceed with confidence in a conservative manner, even in extreme cases consistent with newborn screen-positive early presentation of SCID.

Efficacy of the Gulu University Reproductive Health Simulation Training for final year medical students and interns: a before-and-after study.

Background: Reproductive health emergencies, such as postpartum hemorrhage, contribute significantly to maternal and neonatal morbidity and mortality in Uganda due to knowledge and skills gaps. Medical interns, intern midwives, and nurses are crucial as frontline healthcare workers in responding to these emergencies. Our proposed hands-on strategy involves comprehensive simulation-based training (SBT) to equip these healthcare workers with the essential knowledge to manage common reproductive health emergencies and procedures in the country. Objectives: The study aimed to assess the effectiveness of comprehensive SBT in improving the knowledge of interns and fifth-year medical students on reproductive health emergencies and procedures at Gulu University and its Teaching Hospitals in Uganda. Design: A before-and-after study. Methods: A 4-day SBT was conducted for fifth-year medical students and interns (nurses, midwives, and doctors) at Gulu University Teaching Hospitals, focusing on reproductive health emergencies. Pre- and post-tests with 40 multiple-choice questions were used to evaluate knowledge enhancement, the scores were summarized as medians and interquartile ranges. Paired sample t-tests was used to test the difference in pre- and post-test scores. Independent sample t-tests compared median post-test results between interns and students, with a p-value <0.05 considered significant. Results: A total of 153 participants were enrolled, the majority being males (78.4%, n = 120) and medical students (73.9%, n = 113). Among the 40 interns, 55% (n = 22) were doctors, 30% (n = 12) were midwives, and 15% (n = 6) were nurses. The study participants showed an increase in knowledge, with median post-test scores higher than pre-test scores for all participants [63% (interquartile ranges, IQR: 57-71%) versus 49% (42-54%), with a median difference of 14% (8-23%), p < 0.001]. Conclusion: The SBT effectively imparts key knowledge competencies to the interns and fifth-year medical students. We recommend that SBT be included as part of the course units that students should take and for continuous medical education for qualified healthcare workers in resource-limited settings.

End-of-Life Care for Newborn Infants: A Multicenter Real-Life Prospective Study.

INTRODUCTION: Most neonatal deaths in industrialized countries follow a process of redirection of care. The objectives of this study were to describe how neonates die in a middle-income country, whether there was redirection of care, and the reason for this decision. METHODS: This was a prospective, multicenter, cross-sectional study. Neonates who died in the delivery room or in the neonatal intensive care unit in 97 hospitals over a 6-month period were included. After each neonatal death, one investigator interviewed a member of the healthcare team who had been involved in the end-of-life care process. Perinatal data, conditions that led to death, whether there was redirection of care, and details of the end-of-life process were recorded. RESULTS: Data from 697 neonatal deaths were analyzed, which represent 80% of the total deaths occurring in Argentina in that period. The main causes of death were complications of prematurity (47%) and congenital anomalies (27%). Overall, 32% of neonates died after a process of redirection of care, and this was less frequent in the neonatal intensive care unit (28%) than in the delivery room (70%, p < 0.001). The reasons for withholding/withdrawing care were inevitable death (75%) and severe compromise of expected quality of life (25%). Redirection of care consisted in withholding therapies in 66% and withdrawal in 34%. A diagnosis of a major congenital anomaly increased the odds of redirection of care (OR 5.45; 95% CI: 3.59-8.27). CONCLUSION: Most neonates who die in Argentina do so while receiving full support. Redirection of care mainly follows a condition of inevitable death.

Impact of Nutrient Intake on Body Composition in Very Low-Birth Weight Infants Following Early Progressive Enteral Feeding.

Preterm infants have increased body adiposity at term-equivalent age and risk of adverse metabolic outcomes. The aim of the study was to define how nutrient intake may impact body composition (BC) of very low-birth weight infants fed with early progressive enteral feeding and standard fortification. Eighty-six infants with <1500 g birth weight were included in the BC study and stratified into extremely preterm (EP) and very preterm (VP) groups. Nutrient intake was calculated during the first 28 days and BC assessed by dual X-ray absorptiometry at discharge and by skinfold thickness at 12 months of corrected age (CA). Total nutrient intake did not differ between the groups. EP infants had a higher fat mass percentage at discharge than VP infants (24.8% vs. 19.4%, p < 0.001); lean mass did not differ. None of the nutrients had any impact on BC of EP infants. Protein intake did not result in a higher lean mass in either group; fat intake was a significant predictor of increased fat mass percentage in VP infants at discharge (p = 0.007) and body adiposity at 12 months of CA (p = 0.021). Nutritional needs may depend on gestational age and routine fortification should be used with caution in more mature infants.

Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.

BACKGROUND: Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt-wasting form of 21-hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non-CAH primary adrenal insufficiency (non-CAH PAI). PATIENTS AND METHODS: Clinical and NBS for CAH data of neonates who were diagnosed with non-CAH PAI between January and December 2022 were examined. RESULTS: Patients (n = 6, 4 females) were presented with severe hyperpigmentation (n = 6), hypoglycemia (n = 4), hyponatremia (n = 3), hyperkalemia (n = 1), respiratory distress syndrome (n = 1) between 3rd hour to 2 months of life. All had normal NBS results. The median first-tier 17-hydroxyprogesterone (17OHP) concentration in NBS for CAH was 0.14 ng/mL (range; 0.05-0.85). Molecular studies revealed biallelic mutations in the MC2R (n = 4; 3 homozygous, 1 compound heterozygous), MRAP (n = 1) and STAR (n = 1) genes. Glucocorticoid with or without mineralocorticoid replacement was initiated once the diagnosis of non-CAH PAI was established. CONCLUSION: Neonates with non-CAH PAI have always normal NBS due to persistently low 17OHP, even when these newborn infants are severely symptomatic for adrenal insufficiency. Clinicians should be alert for signs of adrenal insufficiency in neonates, even if the patient has a 'normal' screening for CAH, so as not to delay diagnosis and treatment. This fact should be kept in mind particularly in countries where these conditions are more common than elsewhere.

Cochlear implantation in pediatrics: Impact of newborn hearing screening on intervention time.

OBJECTIVES: The newborn hearing screening (NHS) program was globally established for early hearing loss (HL) identification and intervention. Early intervention is essential to minimize or prevent the negative consequences of HL. In Saudi Arabia, the NHS was officially implemented in 2016. Currently, its impact on the timing of cochlear implantations (CIs) in Saudi Arabia remains unclear, and information on potential hospital-related delays affecting early implantation is lacking. Thus, this study aimed to evaluate the effect of implementing the NHS on age at CI in children with prelingual deafness in a CI center in Saudi Arabia, and to evaluate the hospital timing in the CI process. METHODS: All pediatric CI users who presented for the first time to the CI committee (CIC) at a tertiary center and received their implants between 2015 and 2022 were enrolled in this study. Date of birth (DOB), date of presentation to the CI committee (DOCIC), and date of CI surgery (DOCIS) were retrospectively reviewed. RESULTS: In total, 304 CI children were included in the analysis. Approximately 55 % of the children (n = 167) were screened for HL through the NHS, whereas 45 % of the children (n = 137) were born before the launch of the NHS. Both age at the presentation to the CIC (i.e. difference between DOCIC and DOB) and age at implantation (i.e. difference between DOCIS and DOB) were significantly earlier in children who were screened for HL through the NHS than those who were not screened (P < 0.0001). The time difference between the DOCIC and DOCIS was not significantly different between the screened and unscreened children (P > 0.05). CONCLUSION: The implementation of the NHS in the tertiary center has a significant positive effect on age at presentation to the CIC and age at implantation, but not on the actual CI surgery. Further research is needed to reduce the hospital delays before the actual surgery in order to increase the likelihood of children receiving implantation early in their life.

A Large Proportion of The Neonatal Iron Pool is Acquired from the Gestational Diet in a Murine Model.

BACKGROUND: Iron is crucial for growth and development, but excess iron is harmful. Neonatal mice have elevated levels of circulating iron, but the source of this iron is unclear. This lack of understanding makes it difficult to optimize early life iron balance. OBJECTIVE: Identify the origins of neonatal tissue-specific iron pools using dietary manipulation and cross-fostering murine models. METHODS: To determine whether tissue-specific neonatal iron was primarily acquired during gestation or after birth, pups born to iron sufficient or iron deficient dams were cross-fostered and tissues were harvested at postnatal day 3-5 (P3-5) to measure iron content. A separate set of female mice were fed a diet enriched with the stable iron isotope iron57 (57Fe) for four generations to replace naturally abundant liver iron56 (56Fe) stores with 57Fe. To quantify the proportions of neonatal iron acquired during gestation, pups born to dams with 56Fe or 57Fe stores were cross-fostered and tissues were harvested at P3-5 to determine 56Fe:57Fe ratios by inductively coupled plasma mass spectrometry (ICP-MS). Finally, to quantify the proportion of neonatal iron acquired from the maternal diet, female mice with 56Fe or 57Fe stores switched diets upon mating and pup tissues were harvested on P0 to determine 56Fe:57Fe ratios by ICP-MS. RESULTS: Perinatal iron deficiency resulted in smaller pups and gestational iron deficiency resulted in lower neonatal serum and liver iron. Cross-fostering between dams with 56Fe and 57Fe stores demonstrated that up to 70% of neonatal serum, liver and brain iron were acquired during gestation. Dietary manipulation experiments using dams with 56Fe and 57Fe stores showed that over half of neonatal serum, liver and brain iron were from the dam's gestational diet rather than pre-conception iron stores. CONCLUSIONS: This study provides quantitative values for the sources of neonatal iron, which may inform approaches to optimize neonatal iron status.

Parent-identified gaps in preparation for the postpartum period in the United States: An integrative review.

BACKGROUND: In the United States, 35% of all pregnancy-related deaths occur between 24 h and 6 weeks after delivery, yet the first outpatient visit is not typically scheduled until 6 weeks postpartum. Thus, the ability to independently navigate this period is critical to maternal well-being and safety. However, previous research suggests that many women feel unprepared to manage the challenges they encounter during this time, and there is a current need to synthesize the existing evidence. Therefore, the purpose of this integrative review is to describe parent-identified gaps in preparation for the postpartum period in the United States. METHODS: Using the Integrative Review framework by Whittemore and Knafl, a systematic search of Medline, CINAHL, PsychInfo, Web of Science, and a hand-search was conducted for peer-reviewed articles published in English between 1995 and 2023. Results were reported according to PRISMA 2020 guidelines. Studies that met eligibility criteria were synthesized in a literature matrix. RESULTS: Twenty-two studies met inclusion criteria. Four themes were identified: Mental Health Concerns, Physical Concerns, Infant Feeding and Care Concerns, and General Concerns and Recommendations. Many women, regardless of parity, reported feeling unprepared for numerous postpartum experiences, including depression, anxiety, physical recovery, breastfeeding, and infant care. Parents reported difficulty differentiating normal postpartum symptoms from complications. Hospital discharge teaching was viewed as simultaneously overwhelming and inadequate. Parent recommendations included the need for earlier and more comprehensive postpartum preparation during pregnancy, delivered in multiple formats and settings. Parents also reported the need for earlier postpartum visits and improved outpatient support. CONCLUSIONS: Our findings indicate that many parents in the United States feel unprepared to navigate a wide variety of emotional, physical, breastfeeding, and infant-care experiences. Future research should explore innovative educational approaches to postpartum preparation during pregnancy as well as outpatient programs to bridge the current gaps in postpartum care.

Disease severity in subsequent pregnancies with RhD immunization: A nationwide cohort.

BACKGROUND AND OBJECTIVES: To evaluate the severity of haemolytic disease of the foetus and newborn (HDFN) in subsequent pregnancies with RhD immunization and to identify predictive factors for severe disease. MATERIALS AND METHODS: Nationwide prospective cohort study, including all pregnant women with RhD antibodies. All women with at least two pregnancies with RhD antibodies and RhD-positive foetuses were selected. The main outcome measure was the severity of HDFN in the first and subsequent pregnancy at risk. A subgroup analysis was performed for the group of women where RhD antibodies developed after giving birth to an RhD-positive child and thus after receiving anti-D at least twice (group A) or during the first pregnancy at risk for immunization (group B). RESULTS: Sixty-two RhD immunized women with a total of 150 RhD-positive children were included. The severity of HDFN increased for the whole group significantly in the subsequent pregnancy (p < 0.001), although it remained equal or even decreased in 44% of women. When antibodies were already detected at first trimester screening in the first immunized pregnancy, after giving birth to an RhD-positive child (group A), severe HDFN in the next pregnancy was uncommon (22%). Especially when no therapy or only non-intensive phototherapy was indicated during the first immunized pregnancy (6%) or if the antibody-dependent cell-mediated cytotoxicity result remained <10%. Contrarily, women with a negative first trimester screening and RhD antibodies detected later during the first pregnancy of an RhD-positive child (group B), often before they had ever received anti-D prophylaxis, were most prone for severe disease in a subsequent pregnancy (48%). CONCLUSION: RhD-mediated HDFN in a subsequent pregnancy is generally more severe than in the first pregnancy at risk and can be estimated using moment of antibody detection and severity in the first immunized pregnancy. Women developing antibodies in their first pregnancy of an RhD-positive child are at highest risk of severe disease in the next pregnancy.

The newborn individualised developmental care and assessment program: A model of care for infants and families in hospital settings.

AIM: The Newborn Individualised Developmental Care and Assessment Program (NIDCAP) is an intervention and education programme that uses developmental observation for multidisciplinary healthcare professionals (HCP) caring for high-risk infants and families. Infants prosper with the ongoing co-regulation process of infant and family that is influenced by the physical and social environment. METHODS: The Template for Intervention Description and Replication (TIDieR) Guidelines were applied to the NIDCAP intervention. The estimation of the individual infant's current goals is described from direct observation of behaviour in the context of ongoing care delivery. The infant's behaviour guides all caregivers to articulate current strengths and functioning for the development of individualised plans of care and support. The NIDCAP Nursery Program supports the full integration of NIDCAP into the healthcare system. RESULTS: NIDCAP is a system-based, process-oriented, attuned and responsive intervention for individualised developmental care for infants and families. Evidence shows NIDCAP significantly improves medical outcomes, with less time on the ventilator, improved weight gain, decreased length of stay, improved developmental outcomes and enhanced infant and family relationships. Evidence suggests that NIDCAP as an intervention improves parental competence, decreases stress for HCP teams and improves HCP satisfaction. CONCLUSION: NIDCAP improves outcomes for infants and families requiring hospital care.

An Immunodeficiency Disorder Presenting in the Neonatal Period.

Primary immunodeficiency (PID) Disorders include a variable group of diseases that are classified according to the functional defects encountered. Chronic granulomatous disease (CGD) is inherited as an X-linked recessive disorder in many cases, and it is the clinical model of disorders of phagocytosis. Skin and solid organs abscesses are the most common presenting symptoms; we will report the case of a four-day-old boy admitted to our hospital for a neck mass with purulent discharges associated with umbilical stump and circumcision site infection; the diagnosis of CGD was later confirmed by the Dihydrorhodamine (DHR) test that turned out to be positive.

Analysis of clinical risk factors for metabolic bone disease of prematurity.

Objective: To analyze clinical data related to preterm infants and identify risk factors for metabolic bone disease of prematurity (MBDP). Methods: This study involved 856 newborns with a gestational age of less than 37 weeks or a weight of less than 1,500g at the Second Hospital of Jilin University. Multifactorial analysis was performed using logistic regression models to explore the risk factors for MBDP. Linear regression was used to investigate the factors affecting the time of alkaline phosphatase (ALP) exceedance and the peak value of ALP in the MBDP group. Results: In the MBDP group, ALP excesses occurred in preterm infants at an average of 39.33 days after birth, and the mean value of peak ALP was 691.41 IU/L. Parenteral nutrition and the application of assisted ventilation were independent risk factors for MBDP, with ORs of 1.02 and 1.03 respectively. Gestational age was found to be a protective factor for earlier time of onset of ALP exceedance (ß = 2.24,) and the increase in the peak value of ALP (ß = -16.30). Conclusion: Parenteral nutrition and the application of assisted ventilation are independent risk factors for MBDP. Gestational age is a major factor influencing the time of onset of ALP exceedance and the peak value of ALP in infants with MBDP.