Closing the gap: An urgent need for newborn screening of organic acid disorders in developing countries.

Organic acid disorders are rare inherited metabolic disorders of key metabolic pathways. For the identification of specific organic acids, investigation of urinary metabolites and genetic testing are required through newborn screening programmes. Delayed diagnosis leads to complications, such as cardiac attacks, respiratory problems, neuro-developmental disorders, intellectual disability, and even premature death. The burden of such inherited disorders is quite high in developing countries of South Asia due to high rate of consanguinity in the region. Unfortunately, such disorders are left untreated due to the lack of screening facilities in such countries. The current narrative review was planned to highlight the urgent need for closing this gap and implementing effective newborn screening programmes for organic acid disorders in developing countries. The implementation of effective programmes is crucial for reducing morbidity and mortality, and for improving the quality of life for the affected children and of their families, thus promoting global health equity.

Development and evaluation of a candidate reference measurement procedure for detecting 17α-hydroxyprogesterone in dried blood spots using isotope dilution liquid chromatography tandem mass spectrometry.

17α-Hydroxyprogesterone (17α-OHP) quantification in dried blood spots (DBS) is essential for newborn screening for congenital adrenal hyperplasia (CAH), which is challenging due to its low physiological concentration. The high false-positive rates of immunoassays necessitate the development of more accurate methods. Liquid chromatography tandem mass spectrometry (LC-MS/MS) offers increased specificity and sensitivity, yet standardized procedures for 17α-OHP measurement are required for clinical application. A candidate reference measurement procedure (cRMP) using isotope dilution LC-MS/MS was developed for 17α-OHP quantification in DBS. By utilizing stable isotope-labeled D8-17α-OHP as an internal standard, the cRMP was optimized, covering sample preparation, calibration, and LC-MS/MS analysis. The method performance was validated across several parameters, including precision, accuracy, specificity, detection limits, and matrix effects. Clinical applicability was further assessed through the establishment of reference intervals for healthy newborns. The developed cRMP exhibited a linear range of 1.00 to 80.00 ng/mL for 17α-OHP, with detection and quantification limits of 0.14 ng/mL and 0.52 ng/mL, respectively. Inter- and intraday precision demonstrated coefficients of variation within 1.27 to 5.69%. The recovery rates and matrix effects were well within acceptable limits, ensuring method reliability. Clinical application showed distinct reference intervals for healthy newborns that were unaffected by sex but influenced by weight and gestational age. This method significantly enhances CAH diagnostic accuracy in newborns, providing a valuable tool for clinical laboratories and improving newborn screening program standardization and traceability.

Left atrial strain assessment unveils left ventricular diastolic dysfunction in neonates with transient tachypnea of the newborn: A prospective observational study.

INTRODUCTION: An inadequate clearance of lung fluid plays a key role in the pathogenesis of transient tachypnea of the newborn (TTN). OBJECTIVES: To evaluate if left ventricular diastolic dysfunction contributes to reduced clearance of lung fluid in TTN. MATERIALS AND METHODS: This was a prospective, observational study. Echocardiography and lung ultrasound were performed at 2, 24 and 48 h of life (HoL) to assess biventricular function and calculate lung ultrasound score (LUS). Left atrial strain reservoir (LASr) provided surrogate measurement of left ventricular diastolic function. RESULTS: Twenty-seven neonates with TTN were compared with 27 controls with no difference in gestation (36.1 ± 2 vs. 36.9 ± 2 weeks) or birthweight (2508 ± 667 vs. 2718 ± 590 g). Biventricular systolic function was normal in both groups. LASr was significantly lower in cases at 2 (21.0 ± 2.7 vs. 38.1 ± 4.4; p < 0.01), 24 (25.2 ± 4.5 vs. 40.6 ± 4.0; p < 0.01) and 48 HoL (36.5 ± 5.8 and 41.6 ± 5.2; p < 0.01), resulting in a significant group by time interaction (p < 0.001), after adjusting for LUS and gestational diabetes. A logistic regression model including LUS, birth weight and gestational diabetes as covariates, showed that LASr at 2 HoL was a predictor of respiratory support at 24 HoL, with an adjusted odds ratio of 0.60 (CI 0.36-0.99). CONCLUSIONS: LASr was reduced in neonates with TTN, suggesting diastolic dysfunction, that may contribute to the delay in lung fluid clearance.

Ultra-high-frequency ultrasound (48-70 MHz) is a promising tool for improved gastrointestinal diagnostics in infants.

AIM: To investigate the clinical feasibility of ultra-high-frequency abdominal ultrasound (UHFUS) scans of preterm and term infants. METHODS: Prospectively, 19 healthy term newborn infants were examined with conventional ultrasound (CUS) (Toshiba, Aplio i700, linear probe 14L5) and UHFUS (Visualsonics VevoMD, linear probes UHF48 and UHF70) according to a standardised protocol. Measurements of wall thickness were performed for; stomach, small intestine, colon and peritoneum. Five preterm infants, with or without suspected necrotising enterocolitis (NEC), were also examined with UHF48. Of these, only one was later diagnosed with NEC. RESULTS: Differences between CUS and UHFUS (UHF48) were found in measurements of thickness; for peritoneum 0.25 versus 0.13 mm (p < 0.001), small intestine 0.76 versus 0.64 mm (p = 0.039) and colon 0.7 versus 0.47 mm (p < 0.001) in healthy term infants. Gaining frequency from 46 to 71 MHz showed a mean reduction in measurements of peritoneum from 0.13 to 0.09 mm (p < 0.001). One preterm infant with NEC showed a fivefold and twofold increase in peritoneal and gastrointestinal wall thickness respectively, compared to healthy preterm infants. CONCLUSION: UHFUS was a clinically feasible, promising method with potential to improve gastrointestinal diagnostics in infants. Lower peritoneum thickness and gastrointestinal wall thickness were demonstrated with UHFUS compared to CUS, suggesting an overestimation by CUS.

Case report: Acute severe hyponatremia-induced seizures in a newborn: a community-acquired case and literature review.

Severe neonatal hyponatremia represents a critical electrolyte imbalance with potentially severe neurological outcomes, a condition rarely documented in community-acquired, full-term newborns. This report underscores a unique case of a 23-day-old, previously healthy, full-term male neonate experiencing severe hyponatremia that precipitated seizures, underscoring the urgency of prompt recognition and intervention. The neonate presented with symptoms including vomiting, groaning, chills, fixed staring, and limb tremors. Critical findings upon admission encompassed hypothermia, hypotension, tachycardia, and tachypnea accompanied by significant weight loss. The clinical presentation was marked by dehydration, lethargy, weak crying, a fixed gaze, irregular breathing, and coarse lung sounds, yet a distended abdomen, hypertonic limb movements, and recurrent seizures were observed. Immediate interventions included establishing IV access, rewarming, mechanical ventilation, seizure management, volume expansion, dopamine for circulatory support, and initiation of empirical antibiotics. Diagnostic evaluations revealed a sodium ion concentration of 105.9 mmol/L, while amplitude-integrated electroencephalography (aEEG) detected pronounced seizure activity characterized by a lack of sleep-wake rhythmicity, noticeable elevation in both the lower and upper amplitude margins, and a sustained decrease in the lower margin voltage dropping below 5 µV, presenting as sharp or serrated waveforms. The management strategy entailed rapid electrolyte normalization using hypertonic saline and sodium bicarbonate, anticonvulsant therapy, and comprehensive supportive care, with continuous aEEG monitoring until the cessation of seizures. Remarkably, by the third day, the neonate's condition had stabilized, allowing for discharge in good health 10 days post-admission. At a 16-month follow-up, the child exhibited no adverse neurological outcomes and demonstrated favorable growth and development. Our extensive review on the etiology, clinical manifestations, aEEG monitoring, characteristics of seizures induced by severe neonatal hyponatremia, treatment approaches, and the prognosis for seizures triggered by severe hyponatremia aims to deepen the understanding and enhance clinical management of this complex condition. It stresses the importance of early detection, accurate diagnosis, and customized treatment protocols to improve outcomes for affected neonates. Additionally, this review accentuates the indispensable role of aEEG monitoring in managing neonates at elevated risk for seizures. Yet, the safety and efficacy of swiftly administering hypertonic saline for correcting severe hyponatremia-induced seizures necessitate further investigation through medical research.

Abdominal wall muscle weakness outcomes after split abdominal flap repair of large congenital diaphragmatic hernias in newborn.

PURPOSE: Split abdominal wall muscle flap (SAWMF) is a technique to repair large defects in congenital diaphragmatic hernia (CDH). A possible objection to this intervention could be any associated abdominal muscle weakness. Our aim is to analyze the evolution of this abdominal muscle wall weakness. METHODS: Retrospective review of CDH repair by SAWMF (internal oblique muscle and transverse) from 2004 to 2023 focusing on the evolution of muscle wall weakness. RESULTS: Eighteen neonates of 148 CDH patients (12,1%) were repaired using SAWMF. Mean gestational age and birth weight were 35.7 ± 3.5 weeks and 2587 ± 816 g. Mean lung-to-head ratio was 1.49 ± 0.28 and 78% liver-up. Seven patients (38%) were prenatally treated by tracheal occlusion. Ninety-four percent of the flaps were used for primary repair and one to repair a recurrence. One patient (5.6%) experienced recurrence. Abdominal muscle wall weakness was present in the form of a bulge. Resolution of weakness at 1, 2 and 3 years was 67%, 89% and 94%, respectively. No patient required treatment for weakness or died. CONCLUSIONS: Abdominal muscular weakness after a split abdominal wall muscle flap repair is not a limitation for its realization since it is asymptomatic and presents a prompt spontaneous resolution. LEVEL OF EVIDENCE: IV.

The search for blood biomarkers that indicate risk of adverse neurodevelopmental outcomes in fetal growth restriction.

Fetal growth restriction (FGR) impacts 5%-10% of pregnancies and is associated with increased risk of mortality and morbidity. Although adverse neurodevelopmental outcomes are observed in up to 50% of FGR infants, a diagnosis of FGR does not indicate the level of risk for an individual infant and these infants are not routinely followed up to assess neurodevelopmental outcomes. Identifying FGR infants at increased risk of adverse neurodevelopmental outcomes would greatly assist in providing appropriate support and interventions earlier, resulting in improved outcomes. However, current methods to detect brain injury around the time of birth lack the sensitivity required to detect the more subtle alterations associated with FGR. Blood biomarkers have this potential. This systematic review assessed the current literature on blood biomarkers for identifying FGR infants at increased risk of adverse neurodevelopmental outcomes at >12 months after birth. Four databases were searched from inception to 22 February 2024. Articles were assessed for meeting the inclusion criteria by two reviewers. The quality of the included article was assessed using Quality Assessment of Diagnostic Accuracy Studies-2. A summary of findings is presented as insufficient articles were identified for meta-analysis. Excluding duplicates, 1,368 records were screened with only 9 articles considered for full text review. Only one article met all the inclusion criteria. Quality assessment indicated low risk of bias. Both blood biomarkers investigated in this study, neuron specific enolase and S100B, demonstrated inverse relationships with neurodevelopmental assessments at 2 years. Four studies did not meet all the inclusion criteria yet identified promising findings for metabolites and cytokines which are discussed here. These findings support the need for further research and highlight the potential for blood biomarkers to predict adverse outcomes. Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=369242, Identifier CRD42022369242.

Factors infl uencing delivery in women with multiple fetus pregnancy.

OBJECTIVE: This paper aims to analyze the factors that can influence the method of childbirth in women with multiple pregnancies. MATERIALS AND METHODS: Retrospective analysis of selected parameters in women with multiple pregnancies who gave birth at the 2nd Clinic of Gynecology and Obstetrics of the Faculty of Medicine (FM), Comenius University (CU) and University Hospital (UH) Bratislava in the years 2010-2022. RESULTS: Between 2010 and 2022, at the 2nd Clinic of Gynecology and Obstetrics of the FM CU and UH in Bratislava, 1.13% of births were multiple pregnancies. After statistical data processing, primiparity appeared statistically significant as a risk of acute caesarean section (C-section); multiparous women had a higher probability to give birth vaginally. Since 2017, the clinic has had a decreasing trend in the number of caesarean sections. Women with an acute caesarean section, in turn had on average a lower pH of both fetuses compared to vaginal delivery. However, the incidence of asphyxia in fetuses was not statistically significantly different. We found no risk factor increasing the likelihood of acute caesarean section for fetus B in twins. CONCLUSION: Multiple pregnancy has a higher morbidity not only for the woman but also for the fetuses. The incidence of multiple pregnancies is influenced by assisted reproduction. Delivery method depends on various factors such as chorionicity, fetal presentation, and history of a previous caesarean section.

Newborn and infant hearing screening for early detection of hearing loss in Nairobi, Kenya.

Background: Early detection of hearing loss and subsequent intervention leads to better speech, language and educational outcomes giving way to improved social economic prospects in adult life. This can be achieved through establishing newborn and infant hearing screening programs. Objective: To determine the prevalence of hearing loss in newborns and infants in Nairobi, Kenya. Methods: A cross-sectional pilot study was conducted at the National hospital and at a sub county hospital immunization clinic. A total of 9,963 babies aged 0-3 years, were enrolled in the hearing screening program through convenient sampling over a period of nine months. A case history was administered followed by Distortion Product Oto-acoustic emissions (DPOAEs) and automated auditory brainstem response (AABR) hearing screening. Results: The screening coverage rate was 98.6% (9963/10,104). The referral rate for the initial screen was 3.6% (356/ 9,963), the return rate for follow-up rescreening was 72% (258 babies out of 356) with a lost to follow-up rate of 28% (98/356). The referral rate of the second screen was 10% (26/258). All the 26 babies referred from the second screen returned for diagnostic hearing evaluation and were confirmed with hearing loss, yielding a prevalence of 3/1000. Conclusions: Establishing universal newborn and infant hearing screening programs is essential for early detection and intervention for hearing loss. Data management and efficient follow-up systems are an integral part of achieving diagnostic confirmation of hearing loss and early intervention.

The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening.

Background: Those diagnosed with PKU in the early years of newborn screening (NBS) were often discharged from clinic in childhood. Long-term lost to clinic patients may be impacted by untreated PKU and uninformed about current recommendations. We aimed to contact adults away from clinic for 5-50+ years, share current recommendations, offer clinical care, and elicit factors underlying not returning to clinic. Methods: Former patients were identified and offered a virtual meeting with a physician and dietitian for structured interview and education about current guidelines and treatments. Results: We identified 53 eligible patients who had PKU and had not returned to clinic in ≥5 years. Of those 53, 27 were successfully contacted, 16 completed the educational intervention, and 5/16 returned to clinic. Reasons for having been away from clinic included discharge from clinic in childhood and inadequate insurance coverage. Experiences varied and some denied negative impacts after diet discontinuation. Individuals expressed a desire for convenient treatments that aligned with overall health goals. Most participants who completed the educational intervention expressed interest in returning to clinic; however, most did not return within the timeframe of the project. All 27 individuals successfully contacted agreed to be re-contacted with future updates or research opportunities. Discussion: We successfully contacted half of individuals identified as having been lost to clinic follow-up long-term. Limitations included inability to make initial contact, and unwillingness to re-engage by some we reached. Those who agreed to participation desired ongoing PKU clinic and community connection. This experience will inform our process to engage current patients and re-engage those currently lost to care.

Severe colic in a newborn dairy calf caused by a large colostrum curd: a case report.

A newborn female, Holstein calf weighing approximately 38.5 kg developed severe, persistent colic caused by a large colostrum curd located within the calf's abomasum. Based upon 10% body weight, the calf had been fed 4 liters (L) of first-milking colostrum approximately 30 min after birth and an additional 2 L of first-milking colostrum 6 h after the first feeding. Both the first and second feedings used an esophageal tube feeder to deliver the colostrum. Colic developed shortly after the second colostrum feeding. The affected calf did not respond to on-farm supportive medical therapy and was humanely euthanized by a penetrating captive bolt approximately 22 h after the onset of colic. This on-farm colostrum feeding protocol is routinely observed in the current dairy industry. This case demonstrates calves that are fed large volumes of colostrum during a relatively short window of time may develop a large, firm colostrum curd within the abomasum that causes abdominal distension, colic, and occasional death. There is an urgent need for prospective analytical studies that determine the optimal immunoglobulin mass (g/L) and the ideal volume of colostrum fed to newborn calves for both the first and second colostrum feedings within the most beneficial time frame. Guidelines should be developed that minimize complications that adversely affect calf health and well-being while ensuring the successful transfer of passive immunity.

Retrospective analysis of reference intervals for dried blood spot based ms/ms newborn screening programs in Chinese preterm neonates: a nationwide study.

OBJECTIVES: Although recent discoveries regarding the biomarkers of newborn screening (NBS) programs by tandem mass spectrometry (MS/MS) highlight the critical need to establish reference intervals (RIs) specifically for preterm infants, no such RIs has been formally published yet. This study addressed the gap by offering a comprehensive set of reference intervals (RIs) for preterm neonates, and illustrating the dynamic changes of each biomarker with age. DESIGN AND METHODS: The NBS data of 199,693 preterm newborns (< 37 weeks of gestation) who met the inclusion and exclusion criteria from the NNSCP database were included in study analysis. The birth weight stratified dynamic trend of each biomarker were captured by their concentrations over age. Reference partitions were determined by the method of Harris and Boyd. RIs, corresponding to the 2.5th and 97.5th percentiles, as well as the 0.5th, 25th, 50th, 75th and 99.5th percentiles were calculated using a non-parametric rank approach. RESULTS: Increasing birth weight is associated with an elevation in the levels of arginine, citrulline, glycine, leucine and isobarics, methionine, ornithine, phenylalanine, and valine, whereas the levels of alanine, proline and tyrosine decrease. Additionally, two short-chain acylcarnitines (butyrylcarnitine + isobutyrylcarnitine and isovalerylcarnitine + methylbutyrylcarnitine) and a median-chain acylcarnitine (octenoylcarnitine) decrease, while four long-chain acylcarnitines (tetradecanoylcarnitine, palmitoylcarnitine, palmitoleylcarnitine and oleoylcarnitine) increase with increasing birth weight. Age impacts the levels of all MS/MS NBS biomarkers, while sex only affects the level of malonylcarnitine + 3-hydroxybutyrylcarnitine (C3-DC + C4-OH) in very low birth weight preterm neonates. CONCLUSION: The current study developed reference intervals (RIs) specific to birth weight, age, and/or sex for 35 MS/MS biomarkers, which can help in the timely evaluation of the health and disease of preterm neonates.

Global Financing Facility investments for vulnerable populations: content analysis regarding maternal and newborn health and stillbirths in 11 African countries, 2015 to 2019.

BACKGROUND: The Global Financing Facility (GFF) was launched in 2015 to catalyse increased domestic and external financing for reproductive, maternal, newborn, child, adolescent health, and nutrition. Half of the deaths along this continuum are neonatal deaths, stillbirths or maternal deaths; yet these topics receive the least aid financing across the continuum. OBJECTIVES: To conduct a policy content analysis of maternal and newborn health (MNH), including stillbirths, in GFF country planning documents, and assess the mortality burden related to the investment. METHODS: Content analysis was conducted on 24 GFF policy documents, investment cases and project appraisal documents (PADs), from 11 African countries. We used a systematic data extraction approach and applied a framework for analysis considering mindset, measures, and money for MNH interventions and mentions of mortality outcomes. We compared PAD investments to MNH-related deaths by country. RESULTS: For these 11 countries, USD$1,894 million of new funds were allocated through the PADs, including USD$303 million (16%) from GFF. All documents had strong content on MNH, with particular focus on pregnancy and childbirth interventions. The investment cases commonly included comprehensive results frameworks, and PADs generally had less technical content and fewer indicators. Mortality outcomes were mentioned, especially for maternal. Stillbirths were rarely included as targets. Countries had differing approaches to funding descriptions. PAD allocations are commensurate with the burden. CONCLUSIONS: The GFF country plans present a promising start in addressing MNH. Emphasising links between investments and burden, explicitly including stillbirth, and highlighting high-impact packages, as appropriate, could potentially increase impact.

Main finding: Maternal and newborn health care packages are strongly included in the Global Financing Facility policy documents for 11 African countries, especially regarding pregnancy and childbirth, though less for stillbirth, or postnatal care, or small and sick newborn care.Added knowledge: This study is the first independent content analysis of Global Financing Facility investment cases and related project appraisal documents, revealing mostly consistent content for maternal and newborn health across documents and overall correlation between national mortality burden and investments committed.Global health impact for policy and action: The Global Financing Facility have demonstrated promising initial investments for maternal and newborn health, although there are also missed opportunities for strengthening, especially for some neonatal high-impact packages and counting impact on stillbirths.

Late diagnosis of anorectal malformation: how good is good enough?

PURPOSE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years. METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted. RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented. CONCLUSION: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.

The effects of temperament type on infusion extravasation in newborns.

Infusion extravasation has an increased incidence in newborns, which can result in various adverse outcomes. This study aimed to investigate the effects of different types of temperament on infusion extravasation in newborns. A total of 209 newborns aged 4-7 days who were treated with infusion therapy were assessed for temperament type using the neonatal behavioral assessment scale score (NBAS). The 2009 Infusion Nurses Society clinical grading criteria for extravasation were used, and the clinical data of the newborns, such as gestational age and body weight, were collected. Out of 209 newborns assessed, 107 developed infusion extravasations, with an incidence rate of 51.2%. Newborns with intermediate temperament type were more prone to develop infusion extravasation. Newborns with low body weight, amniotic fluid aspiration syndrome, or meconium aspiration syndrome were prone to develop infusion extravasation. Body weight, temperament type of consolability, temperament type of peak of excitement, diseases, general temperament type, and NBAS total scores of the neonates were independent risk factors for infusion extravasation. Thus, different types of temperament can have an impact on neonatal extravasation.

Physiology of Human Lactation and Strategies to Support Milk Supply for Breastfeeding.

Despite advances across the globe in breastfeeding initiation rates, many families continue to report they are not meeting their breastfeeding goals. Concerns about milk supply, infant nutritional intake, and infant weight gain are among the most commonly cited reasons for early breastfeeding cessation. Nurses working with individuals during the perinatal period are uniquely positioned to educate families and offer evidence-based interventions to promote optimal milk supply, infant growth, and maternal mental and physical health. Such interventions include early and frequent skin-to-skin care, emptying of the breast, and professional lactation support. By implementing such evidence-based practices in the first hours after birth and connecting families to lactation support in the first 14 days, nurses can begin to help families achieve their breastfeeding goals.

[Prognostic factors for neonatal mortality at the Souro Sanou University Hospital in Bobo-Dioulasso, Burkina Faso: a cross-sectional study]. / Facteurs pronostiques de la mortalité néonatale au CHU Sourô Sanou de Bobo-Dioulasso, Burkina Faso: une étude transversale.

Introduction: to help reduce neonatal mortality in Burkina Faso, we identified the prognostic factors for neonatal mortality at the Sourô Sanou University Hospital. Methods: we conducted a cross-sectional and analytical study in the neonatal department from July 25, 2019 to June 25, 2020. Patients' medical records, consultation and hospital records were reviewed. Prognostic factors for neonatal mortality were identified using a Cox model. Results: data from 1128 newborn babies were analysed. Neonatal mortality was 29.8%. Most of these deaths (89%) occurred in the early neonatal period. The mean weight of newborns at the admission was 2,285.8 ± 878.7 and 43.6%. They were at a healthy weight. Four out of five newborns had been hospitalized for infection or prematurity. The place of delivery (HR weight <1000g = 5.45[3.81 -7.79]) and the principal diagnosis (HR asphyxiation= 1.64[1.30-2.08]) were prognostic factors for neonatal mortality. Conclusion: improving technical facilities for the etiological investigation of infections and an efficient management of low-weight newborns suffering from respiratory distress would considerably reduce in-hospital neonatal mortality in Bobo-Dioulasso.

Newborn heart rate monitoring methods at birth and clinical outcomes: A systematic review.

Aim: Compare heart rate assessment methods in the delivery room on newborn clinical outcomes. Methods: A search of Medline, SCOPUS, CINAHL and Cochrane was conducted between January 1, 1946, to until August 16, 2023. (CRD 42021283438) Study Selection was based on predetermined criteria. Reviewers independently extracted data, appraised risk of bias and assessed certainty of evidence. Results: Two randomized controlled trials involving 91 newborns and 1 nonrandomized study involving 632 newborns comparing electrocardiogram (ECG) to auscultation plus pulse oximetry were included. No studies were found that compared any other heart rate measurement methods and reported clinical outcomes. There was no difference between the ECG and control group for duration of positive pressure ventilation, time to heart rate ≥ 100 beats per minute, epinephrine use or death before discharge. In the randomized studies, there was no difference in rate of tracheal intubation [RR 1.34, 95% CI (0.69-2.59)]. No participants received chest compressions. In the nonrandomized study, fewer infants were intubated in the ECG group [RR 0.75, 95% CI (0.62-0.90)]; however, for chest compressions, benefit or harm could not be excluded. [RR 2.14, 95% (CI 0.98-4.70)]. Conclusion: There is insufficient evidence to ascertain clinical benefits or harms associated with the use of ECG versus pulse oximetry plus auscultation for heart rate assessment in newborns in the delivery room.

Newborn screening for inborn errors of immunity: The status worldwide.

Background: Newborn screening (NBS) for the early detection of inborn errors of immunity (IEI) has been implemented in a few countries. The objective of this study was to verify the situation and define obstacles to the implementation of NBS worldwide. Methods: A questionnaire was developed by the Inborn Errors of Immunity Committee of the World Allergy Organization (WAO) with 17 questions regarding NBS for IEI in the physician's workplace, NBS test type, problems hindering NBS implementation, reimbursement for IEI therapy, presence of a national IEI registry, referral centers, molecular diagnosis, hematopoietic stem cell transplantation centers, gene therapy, and immunoglobulin replacement therapy. The survey was sent by email once a week to doctors and others associated with WAO and the main immunology societies worldwide as a Google Form™ to be completed during September and October 2021. Results: Two hundred twenty-nine questionnaires were completed, of which 216 (94.3%) were completed by physicians. One hundred seventy-six (76.8%) physicians were both allergists and immunologists. The agreement between allergists/immunologists and non-allergists/non-immunologists for the question "Is there NBS for IEI in the country you work in?" was good (κ = 0,64: 95% CI 0.55-0.69). Ninety-eight (42.8%) participants were from Latin America, 35 (15.3%) from North America, 29 (12.6%) from Europe, 18 (7.9%) from Africa, 44 (19.2%) from Asia, and 5 (2.2%) from Oceania. More than half the participants (n = 124, 54.2%) regularly treated patients with IEI, followed by occasional treatment (n = 77, 33.6%), or never (n = 28, 12.2%). Of the respondents, 14.8% reported that their countries performed NBS for IEI, whereas 42.2% reported their countries did not. T-cell receptor excision circles was the most widely used technique in some countries, with 75 (59.9%) for the diagnosis of NBS for IEI, followed by combined use with kappa deleting-recombination excision circles. Only 13 participants (10.3%) underwent neonatal exon screening in their respective countries. Financial and technical issues were among the major obstacles to the implementation of NBS for IEI. Conclusions: This pilot study showed that few countries have implemented NBS for IEI, despite the presence of immunology referral centers and the availability of hematopoietic stem cell transplantation and intravenous immunoglobulin replacement therapy. The findings highlight the difficulties, mainly financial and technical, hindering wide application of NBS. Sharing experiences, technologies, and resources at the international level can help overcome these difficulties.

Congenital hepatoblastoma: Expanding knowledge, improving outcomes.

Hepatoblastoma (HB) is a rare liver tumour, and its congenital counterpart (CHB) is even less frequent. CHB has a clinically challenging management and a generally perceived worse outcome. This study aims to review the literature on CHB to better define presentation, diagnosis, available treatments and management options. The analysis of outcomes suggests that a significant portion of mortality is unrelated to the malignant nature of the tumour. Key factors influencing overall outcomes were identified: mortality linked to the 'mass effect' during both the prenatal (22%) and perinatal (32%) stages, as well as 'oncological' mortality encompassing tumour and/or treatment-related factors (46%). Overall, after birth, CHB does not seem to confer a worse oncological prognosis per se, and should be managed similarly to older children, if patients are stable enough to undergo proper staging and treatment. A deeper knowledge and better outcomes would come from a large, homogeneous, collection of data possibly allowing a global protocol, focusing on a comprehensive management of CHB.