Knowledge, Attitudes, and Perceptions of Medical and Paramedical Students Toward Human Milk Banks and Breast Milk Donation.

Background and objectives Human milk benefits for both mothers and babies are widely acknowledged. Human milk banks (HMBs) are essential in providing newborns who would not otherwise have access to pasteurized and stored human milk. The objective of this research was to investigate the understanding, opinions, and outlooks of medical and paramedical students regarding breast milk donation and the concept of an HMB. Material and methods A total of 398 professional female students specializing in physiotherapy, nursing, and medicine were given an online self-administered questionnaire as part of a descriptive cross-sectional study. Data on the characteristics, HMB knowledge, awareness levels, and attitudes toward HMB and breast milk donation were to be gathered through the questionnaire. Every student's answer to the survey was kept private and confidential. Result According to the survey, 188 students (47.24%) belong to the medical college, 126 students (31.66%) belong to the physiotherapy college, and the remaining 84 students (21.11%) are from the nursing college. A total of 294 students (74.12%) had heard about human milk banking before and received information from health professionals (195 students, 48.99%), the news (67 students, 16.83%), and family and friends (61 students, 15.33%). However, only 224 students (56.28%) are willing to feed their babies with HMB milk in the future. On the other hand, 216 students (54.27%) are ready to donate breast milk to HMB. The majority of students have a favorable opinion of breast milk donation. A staggering 394 students (98.99%) think that donating human milk can save babies. Furthermore, 379 students (95.23%) think that all the nutrients needed for a baby's healthy development are found in human milk. Merely 350 students (87.93%) think that breastfeeding does not result in malnourishment for either the mother or the baby. When there is an excess of milk, the majority of students (378 or 94.97%) think that there is nothing wrong with donating it. Moreover, 312 (80.41%) students are happy to donate milk in the future. A total of 373 students (93.71%) are overjoyed that a sick baby will survive because of their donated milk. Only 100 students (25.12%) will give milk, though, and only to the infants of their friends and relatives, never to complete strangers. Conclusion A dearth of knowledge pertaining to human milk banking is rampant among medical and paramedical female students, yet the gravity of the circumstances remains concealed. Consequently, it is imperative to extensively educate all Indian communities about the concept of human milk banking to gain widespread acceptance. This research sheds light on the issue and promotes scientific knowledge of HMB, as many students are unaware of it.

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].

Objective:To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods:The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 gene（c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG）, SLC26A4 gene（c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>T）, Mt12SrRNA（m.1555A>G, m.1494C>T） and GJB3 gene（c.538C>T）. The mutation detection rate and allele frequency were analyzed. Results:The overall mutation detection rate was 11.516%（2 419/21 006）, with the GJB2 gene being the most frequently involved at 9.097%（1 911/21 006）, followed by the SLC26A4 gene at 2.123%（446/21 006）, the GJB3 gene at 0.362%（76/21 006） and Mt12SrRNA at 0.176%（37/21 006）. Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%（1 382/21 006） and 1.795%（377/21 006）, respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%（299/21 006） and 0.233%（49/21 106）, respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%（1 411/42 012）, followed by the GJB2 c.235delC at 0.897%（377/42 012） and the SLC26A4 c.919-2A>G at 0.719%（302/42 012）. Conclusion:23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice.

Receipt of RhD-positive whole blood for life-threatening bleeding in female children: A survey in alloimmunized mothers regarding minimum acceptable survival benefit relative to risk of maternal alloimmunization to anti-D.

BACKGROUND: Low-titer group O whole blood (LTOWB) for treatment of hemorrhagic shock sometimes necessitates transfusion of RhD-positive units due to short supply of RhD-negative LTOWB. Practitioners must choose between using RhD-positive LTOWB when RhD-negative is unavailable against the risk to a female of childbearing potential of becoming RhD-alloimmunized, risking hemolytic disease of the fetus and newborn (HDFN) in future children, or using component therapy with RhD-negative red cells. This survey asked females with a history of red blood cell (RBC) alloimmunization about their risk tolerance of RhD alloimmunization compared to the potential for improved survival following transfusion of RhD-positive blood for an injured RhD negative female child. STUDY DESIGN AND METHODS: A survey was administered to RBC alloimmunized mothers. Respondents were eligible if they were living in the United States with at least one red cell antibody known to cause HDFN and if they had at least one RBC alloimmunized pregnancy. RESULTS: Responses from 107 RBC alloimmmunized females were analyzed. There were 32/107 (30%) with a history of severe HDFN; 12/107 (11%) had a history of fetal or neonatal loss due to HDFN. The median (interquartile range) absolute improvement in survival at which the respondents would accept RhD-positive transfusions for a female child was 4% (1%-14%). This was not different between females with and without a history of severe or fatal HDFN (p = .08 and 0.38, respectively). CONCLUSION: Alloimmunized mothers would accept the risk of D-alloimmunization in a RhD-negative female child for improved survival in cases of life-threatening bleeding.

Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.

Most patients with resistance to thyroid hormone (RTH) test negative in newborn screening (NBS) for congenital hypothyroidism (CH). Here, we present a case of RTH diagnosed through NBS. The patient presented to us after her NBS for CH revealed high TSH (23.4 µIU/mL) and free T4 (FT4) (5.40 ng/dL) levels. Apart from tachycardia, she exhibited no other manifestations related to excess or deficiency of thyroid hormones. A confirmatory test replicated the findings, showing elevated serum TSH levels (35.7 µIU/mL) along with high FT4 levels (5.84 ng/dL). Ultrasonography showed marked thyroid gland enlargement (> +4 SD). Targeted next-generation sequencing of genes associated with genetic thyroid disorders revealed a previously reported THRB variant, p.Gly345Cys. Unexpectedly, two biallelic DUOX2 variants (p.His678Arg and p.Arg1334Trp) were also detected. At her last visit, no significant issues were observed with neurological development, growth, bone maturation, or gastrointestinal symptoms related to thyroid function at the age of 1 year, without treatment for RTH and CH. During follow-up, the TSH and FT4 levels gradually decreased. In conclusion, we report a patient with simultaneous RTH and DUOX2 defects, demonstrating the value of conducting a comprehensive analysis of multiple genes associated with thyroid diseases to better comprehend the pathogenesis in patients with atypical thyroid-related phenotypes.

Salivary C-reactive protein and mean platelet volume as possible diagnostic markers for late-onset neonatal pneumonia.

BACKGROUND: Neonatal sepsis, a formidable threat to newborns, is a leading cause of neonatal mortality, with late-onset sepsis manifesting after 72 hours post-birth being particularly concerning. Pneumonia, a prevalent sepsis presentation, poses a significant risk, especially during the neonatal phase when lung defenses are compromised. Accurate diagnosis of pneumonia is imperative for timely and effective interventions. Saliva, a minimally invasive diagnostic medium, holds great promise for evaluating infections, especially in infants. AIM: To investigate the potential of serum C-reactive protein (CRP), salivary CRP (sCRP), and mean platelet volume (MPV) as diagnostic markers for late-onset neonatal pneumonia (LONP). METHODS: Eighty full-term neonates were systematically examined, considering anthropometric measurements, clinical manifestations, radiology findings, and essential biomarkers, including serum CRP, sCRP, and MPV. RESULTS: The study reveals noteworthy distinctions in serum CRP levels, MPV, and the serum CRP/MPV ratio between neonates with LONP and healthy controls. MPV exhibited a robust discriminatory ability [area under the curve (AUC) = 0.87] with high sensitivity and specificity at a cutoff value of > 8.8. Correlations between serum CRP, sCRP, and MPV were also identified. Notably, sCRP demonstrated excellent predictive value for serum CRP levels (AUC = 0.89), underscoring its potential as a diagnostic tool. CONCLUSION: This study underscores the diagnostic promise of salivary and serum biomarkers, specifically MPV and CRP, in identifying and predicting LONP among neonates. These findings advocate for further research to validate their clinical utility in larger neonatal cohorts.

Level of knowledge about neonatal danger signs and associated factors among postpartum mothers in public hospitals, northeastern Ethiopia.

BACKGROUND: Knowing and seeking medical attention for neonatal danger signs has many benefits for reducing neonatal morbidity and death. Despite numerous interventions that have been made to raise mothers' awareness about neonatal danger signs, the desired level of knowledge has not yet been reached in Ethiopia. OBJECTIVE: To assess the level of knowledge of neonatal danger signs and associated factors among postpartum mothers in public hospitals in the Eastern Amhara region, northeastern Ethiopia. METHODS: A hospital-based cross-sectional study was conducted in four government hospitals between January 10, 2023, and February 10, 2023.421 participants in the study were selected using a systematic random sampling technique. Face-to-face interviews, observation, and chart reviews were used to collect the data. The association was discovered through multivariate logistic regression analysis. RESULT: Only 36.6% (154) of mothers were knowledgeable about newborn danger signs in this study. Mothers who had higher institution status [(adjusted odds ratio) AOR = 3.355, 95% CI (1.751, 6.428)]; who were civil servants or a private employer [AOR = 2.986, 95% CI (1.822, 4.892)] and [AOR = 2.544, 95% CI (1.269, 5.138)]; and who had counseling about breastfeeding [AOR = 2.614, 95% CI (1.695, 4.029)] were positive predictors of awareness of neonatal danger signs. CONCLUSION: In this study, the level of mothers' awareness of newborn danger signs was low and required more effort. Moreover, mothers who were educated, worked as civil servants or private employers, had a family size of 4-6, and received breastfeeding counseling were linked to mothers' good awareness of newborn danger signs. As a result, intensive community and facility-based health promotion activities on newborn danger signs should be strengthened, with special emphasis on uneducated and housewife mothers and breastfeeding counseling sessions.

Systematic Review of Heel Puncture-Related Osteomyelitis of the Calcaneus in Newborn Infants.

INTRODUCTION: Heel puncture (HP) in neonates can result in osteomyelitis if done non-aseptically or with incorrect technique. This study summarizes clinical experience with heel puncture-related osteomyelitis of the calcaneus (HP-CO) in newborns. METHODS: We systematically reviewed studies that examined HP-CO in newborn patients using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Our search included the PubMed, Embase, and Cochrane Library databases until December 31, 2023. We used the National Institutes of Health (NIH) assessment scale to evaluate the quality of our analyzed studies. RESULTS: This study analyzed 15 neonatal calcaneal osteomyelitis (CO) cases due to HP conducted in six countries from 1976 to 2016. The average age of the cases was 8.87 ± 6.13 days, with an average birth weight of 2367.27 ± 947.59 g. The infants had undergone an average of 9.00 ± 8.90 HP, with 93.33% exhibiting swelling. Staphylococcus aureus was present in 80% of cases. Beta-lactam antibiotics were used, with satisfactory outcomes in 53.33% of cases. However, in seven cases, three patients had flatfoot due to calcaneal deformity, and other complications were observed in some patients after 7-8 years. CONCLUSIONS: This study offers valuable insights into a rare condition, including its epidemiology, clinical and laboratory characteristics, and treatment options for infants with HP-CO. To prevent the risk of osteomyelitis in this vulnerable group of patients, increasing awareness and maintaining strict aseptic techniques is necessary. We recommend that infants presenting with tenderness, redness, purulent discharge, erythema, or fever and with a history of repeated HP and swollen ankles should be evaluated for suspicion of osteomyelitis. A graphical abstract is avilable for this article.

Application of 4 birthweight curves and local reference range at a University Hospital of Rio de Janeiro, Brazil.

BACKGROUND: Numerous fetal growth curves have been developed from various subpopulations and geographic locations worldwide. OBJECTIVE: To determine the birthweight standard at the Maternity School and compare it to currently used standards in the clinical practice services. STUDY DESIGN: Cross-sectional, observational, and descriptive study. Data from infants born between 2011 and 2016 were collected from the Maternity School Hospital of the Federal University of Rio de Janeiro to define the 10th, 25th, 50th, 75th, and 90th percentiles of the birthweight by gestational age. It was determined the performance of the INTERGROWTH-21st, Fenton, Alexander, and Lubchenco for the Maternity School standards. RESULTS: After the 33rd week of pregnancy, the INTERGROWTH standard was similar to the local standard for small-for-gestational-age infants and Fenton for large-for-gestational-age infants at Maternity School Hospital. The INTERGROWTH standard was found to be inadequate to classify small-for-gestational-age infants, which are babies at major risk for morbidity and mortality at the onset of the 33rd week of pregnancy. CONCLUSION: It was possible to define reference values for birthweight for the maternal school hospital considering at least 33 weeks of pregnancy with a 95% confidence interval. The comparison of the INTERGROWTH, Fenton, Alexander, and Lubchenko standards to the maternal school hospital curve showed that the Fenton curve was the most suitable for the diagnosis of small for gestational age.

Exceptional Survival of a Buried Alive Newborn: A Case Report.

Introduction: This report details the exceptional survival of a female newborn buried alive by her own mother after a clandestine and unassisted birth. Despite spending over six hours underground, the newborn remarkably survived without exhibiting signs of perinatal asphyxia or major complications, and did not require advanced resuscitation measures. Case Presentation: Rescued following a shocking discovery in a garden and rushed to the hospital, this newborn experienced transient hypothermia, mild to moderate respiratory distress, and scattered skin bruises. After five days of hospital care, she was discharged in clinically stable condition with no infectious complications, displaying age-appropriate normal neurological examination findings and excellent feeding. Conclusion: This case not only defies established expectations but also illuminates perinatal physiological adaptation complexities. It highlights a fortunate and exceptional outcome in dire circumstances, presenting a captivating enigma within scientific realms. This report sheds light on the critical importance of early intervention and timely rescue efforts in cases of neonaticide, emphasizing the significance of raising awareness and implementing prompt measures to safeguard newborns in vulnerable situations and collectively contribute to our understanding of handling similar distressing cases.

Relationship between maternal arterial and foetal cord carbon dioxide tension and neonatal outcome in critically ill pregnant women at delivery.

Background and Aims: No studies have evaluated the relationship between maternal arterial partial pressure of carbon dioxide (mPaCO2) and umbilical cord venous partial pressure of carbon dioxide (PCO2) in critically ill pregnant women at delivery. Based on the studies in healthy pregnant women, an mPaCO2 target of ≤50 mmHg is a suggested threshold during mechanical ventilation in critically ill parturients. We evaluated the relationship between mPaCO2 and neonatal cord gases in critically ill parturients at delivery as the primary objective. The relationship between mPaCO2 and APGAR scores at delivery was also analysed as a secondary objective. Methods: Maternal and neonatal cord gas data at delivery and APGAR scores were obtained by a retrospective chart review of 25 consecutive parturients with severe respiratory compromise who were delivered during mechanical ventilation. Linear regression was used to assess the relationship between mPaCO2 and umbilical artery and vein PCO2 and between mPaCO2 and APGAR scores at 1 and 5 min. Results: There was a positive correlation between mPaCO2 and neonatal cord venous PCO2 (P = 0.013). Foetal venous PCO2 exceeded predelivery mPaCO2 by 17.5 (7.5) mmHg. There was an inverse relationship between mPaCO2 and neonatal APGAR scores at 1 and 5 min (P = 0.006 and P = 0.007, respectively). Conclusion: Foetal cord venous PCO2 can be predicted if mPaCO2 values are known. Unlike in healthy pregnant women, there was an inverse relationship between rising mPaCO2 levels and neonatal APGAR scores in critically ill pregnant women who had several associated compounding factors.

The monocyte-derived cytokine response in whole blood from preterm newborns against sepsis-related bacteria is similar to term newborns and adults.

Introduction: Sepsis is characterized by a dysregulated innate immune response. It is a leading cause of morbidity and mortality in newborns, in particular for newborns that are born premature. Although previous literature indicate that the pro-inflammatory response may be impaired in preterm newborns, serum levels of monocyte-derived cytokines, such as TNF-α and IL-6, vary highly between newborns and can reach adult-like concentrations during sepsis. These contradictory observations and the severe consequences of neonatal sepsis in preterm newborns highlight the need for a better understanding of the pro-inflammatory cytokine response of preterm newborns to improve sepsis-related outcomes. Methods and results: Using an in vitro model with multiple read outs at the transcriptional and protein level, we consistently showed that the monocyte-derived cytokine response induced by sepsis-related bacteria is comparable between preterm newborns, term newborns and adults. We substantiated these findings by employing recombinant Toll-like receptor (TLR) ligands and showed that the activation of specific immune pathways, including the expression of TLRs, is also similar between preterm newborns, term newborns and adults. Importantly, we showed that at birth the production of TNF-α and IL-6 is highly variable between individuals and independent of gestational age. Discussion: These findings indicate that preterm newborns are equally capable of mounting a pro-inflammatory response against a broad range of bacterial pathogens that is comparable to term newborns and adults. Our results provide a better understanding of the pro-inflammatory response by preterm newborns and could guide the development of interventions that specifically modulate the pro-inflammatory response during sepsis in preterm newborns.

[Newborn screening in France: news and perspectives]. / Le dépistage néonatal en France : actualités et perspectives.

Newborn screening is a major public health concern. In France, it was established in 1972 with systematic screening for phenylketonuria. Subsequently, other screenings, including congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, and sickle cell disease, were added. The introduction of tandem mass spectrometry in screening laboratories in 2020 enabled the inclusion of eight additional inherited metabolic diseases: aminoacidopathies (tyrosinemia type I, maple syrup urine disease, and homocystinuria), organic acidurias (isovaleric and glutaric type I acidurias), and disorders of fatty acid metabolism (MCADD, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and primary carnitine deficiency). We briefly present these newly added diseases, of which public awareness is still incomplete.

Cerebral rScO2 Measured by Near-Infrared Spectroscopy (NIRS) During Therapeutic Hypothermia in Neonates with Hypoxic-Ischemic Encephalopathy: A Systematic Review.

INTRODUCTION: Perinatal asphyxia, a leading cause of neonatal mortality and neurological sequelae, necessitates early detection of pathophysiological neurologic changes during hypoxic-ischaemic encephalopathy (HIE). This study aimed to review published data on rScO2 monitoring during hypothermia treatment in neonates with perinatal asphyxia to predict short- and long-term neurological injury. METHODS: A systematic review was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Study identification was performed through a search between November and December 2021 in the electronic databases PubMed, Embase, Lilacs, Scopus, Web of Science, and Cochrane Central Register of Controlled Trials (CENTRAL). The main outcome was short-term (Changes in brain magnetic resonating imaging) and long-term (In neurodevelopment) neurological injury. The study protocol was registered in PROSPERO (International Prospective Register of Systematic Reviews) with CRD42023395438. RESULTS: 380 articles were collected from databases in the initial search. Finally, 15 articles were selected for extraction and analysis of the information. An increase in rScO2 measured by NIRS (Near-infrared spectroscopy) at different moments of treatment predicts neurological injury. However, there exists a wide variability in the methods and outcomes of the studies. CONCLUSION: High rScO2 values were found to predict negative outcomes, with substantial discord among studies. NIRS is proposed as a real-time bedside tool for predicting brain injury in neonates with moderate to severe HIE.

Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.

Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via NBS or a family history. Participants completed ophthalmologic testing including measures of visual acuity, electroretinograms (ERG), fundal imaging, contrast sensitivity, and visual fields. Records were reviewed to document medical and treatment history. Twelve participants presented symptomatically with hypoglycemia, failure to thrive, liver dysfunction, cardiac arrest, or rhabdomyolysis. Twenty eight were diagnosed by NBS or due to a family history of LCHADD. Participants diagnosed symptomatically were older but had similar percent males and genotypes as those diagnosed by NBS. Treatment consisted of fasting avoidance, dietary long-chain fat restriction, MCT, C7, and/or carnitine supplementation. Visual acuity, rod- and cone-driven amplitudes on ERG, contrast sensitivity scores, and visual fields were all significantly worse among participants diagnosed symptomatically compared to NBS. In mixed-effects models, both age and presentation (symptomatic vs. NBS) were significant independent factors associated with visual outcomes. This suggests that visual outcomes were improved by NBS, but there was still lower visual function with advancing age in both groups. Early diagnosis and treatment by NBS is associated with improved visual outcomes and retinal function compared to participants who presented symptomatically. Despite the impact of early intervention, chorioretinopathy was greater with advancing age, highlighting the need for novel treatments.

Non-invasive versus invasive respiratory support in preterm infants.

Respiratory insufficiency is almost ubiquitous in infants born preterm, with its incidence increasing with lower gestational age. A wide range of respiratory support management strategies are available for these infants, separable into non-invasive and invasive forms of respiratory support. Here we review the history and evolution of respiratory care for the preterm infant and then examine evidence that has emerged to support a non-invasive approach to respiratory management where able. Continuous positive airway pressure (CPAP) is the non-invasive respiratory support mode currently with the most evidence for benefit. CPAP can be delivered safely and effectively and can commence in the delivery room. Particularly in early life, time spent on non-invasive respiratory support, avoiding intubation and mechanical ventilation, affords benefit for the preterm infant by virtue of a lessening of lung injury and hence a reduction in incidence of bronchopulmonary dysplasia. In recent years, enthusiasm for application of non-invasive support has been further bolstered by new techniques for administration of exogenous surfactant. Methods of less invasive surfactant delivery, in particular with a thin catheter, have allowed neonatologists to administer surfactant without resort to endotracheal intubation. The benefits of this approach appear to be sustained, even in those infants subsequently requiring mechanical ventilation. This cements the notion that any reduction in exposure to mechanical ventilation leads to alleviation of injury to the vulnerable preterm lung, with a long-lasting effect. Despite the clear advantages of non-invasive respiratory support, there will continue to be a role for intubation and mechanical ventilation in some preterm infants, particularly for those born <25 weeks' gestation. It is currently unclear what role early non-invasive support has in this special population, with more studies required.

Neuroprotective effects of VCE-004.8 in a rat model of neonatal stroke.

BACKGROUND: Currently there is no effective treatment for neonatal stroke, an acute neurologic syndrome with sequelae, due to focal ischemic, thrombotic, or hemorrhagic event occurring in the perinatal period. VCE-004.8, an aminoquinone exhibiting activity on CB2 and PPARγ receptors, is neuroprotective in adult mice models of acute and chronic brain damaging conditions. We hereby aimed to study VCE-004.8 neuroprotection in a rat model of neonatal stroke. METHODS: 7-day-old (P7) Wistar rats of both sexes were submitted to Middle Cerebral Artery Occlusion (MCAO), receiving i.p. 30 min after vehicle (MCAO + VEH) or VCE-004.8 5 mg/kg (MCAO + VCE). Non-occluded rats served as controls (SHAM). MCAO consequences were assessed at P14 by MRI, histological (TUNEL staining), biochemical (lactate/n-acetyl aspartate ratio by 1H-NMR spectroscopy) and motor studies (grasp test), and at P37 assessing myelination (MBP signal), hemiparesis and hyperlocomotion. Effects of VCE-004.8 on excitotoxicity (glutamate/n-acetyl aspartate, 1H-NMR), oxidative stress (protein nitrosylation, Oxyblot) and neuroinflammation (Toll-like receptor 4 and TNFa expression, Western blot) were assessed at P14. Therapeutic window was assessed by delaying drug administration for 12 or 18 h. RESULTS: Post-MCAO administration of VCE-004.8 reduced the volume of infarct and histological and biochemical brain damage, reducing hyperlocomotion, restoring motor performance and preserving myelination, in a manner linked to the modulation of excitotoxicity, oxidative stress and neuroinflammation. VCE-004.8 was still effective being administered 12-18 h post-insult. CONCLUSIONS: These data suggest that this drug could be effective for the treatment of stroke in newborns.

[Screening for Duchenne muscular dystrophy in newborns in the Ningxia region]. / å®å¤åœ°åŒºæ–°ç”Ÿå„¿æœæ°è‚Œè¥å »ä¸è‰¯ç—‡ç­›æŸ¥.

OBJECTIVES: To evaluate the incidence rate of Duchenne muscular dystrophy (DMD) in the male newborns in the Ningxia region and establish a critical threshold for screening DMD in newborns to distinguish between the normal population and affected individuals. METHODS: A total of 10 000 male newborns were screened using immunofluorescence analysis of creatine kinase isoenzyme concentrations in heel spot dried blood specimens. Newborns with the concentrations higher than the critical threshold were recalled for serum creatine kinase measurements. Genetic testing was performed to confirm diagnosis in cases showing abnormalities. RESULTS: Among the screened 10 000 male newborns, two were confirmed to have DMD through genetic testing, resulting in a preliminary estimated incidence rate of 1/5 000 for male newborns in the Ningxia region. The critical threshold for creatine kinase isoenzyme concentration in newborns in this region was determined to be 468.57 ng/mL. CONCLUSIONS: Screening for DMD in newborns is feasible in the Ningxia region. Early screening, diagnosis, and treatment of DMD can improve the quality of life for affected individuals and help families make informed decisions regarding further pregnancies.

Next-generation sequencing based newborn screening and comparative analysis with MS/MS.

BACKGROUND: Newborn screening (NBS), such as tandem mass spectrometry (MS/MS), may yield false positive/negative results. Next-generation sequencing (NGS) has the potential to provide increased data output, efficiencies, and applications. This study aimed to analyze the types and distribution of pathogenic gene mutations in newborns in Huzhou, Zhejiang province, China and explore the applicability of NGS and MS/MS in NBS. METHODS: Blood spot samples from 1263 newborns were collected. NGS was employed to screen for pathogenic variants in 542 disease-causing genes, and detected variants were validated using Sanger sequencing. Simultaneously, 26 inherited metabolic diseases (IMD) were screened using MS/MS. Positive or suspicious samples identified through MS/MS were cross-referenced with the results of NGS. RESULTS: Among all newborns, 328 had no gene mutations detected. NGS revealed at least one gene mutation in 935 newborns, with a mutation rate of 74.0%. The top 5 genes were FLG, GJB2, UGT1A1, USH2A, and DUOX2. According to American College of Medical Genetics guidelines, gene mutations in 260 cases were classified as pathogenic or likely pathogenic mutation, with a positive rate of 20.6%. The top 5 genes were UGT1A1, FLG, GJB2, MEFV, and G6PD. MS/MS identified 18 positive or suspicious samples for IMD and 1245 negative samples. Verification of these cases by NGS results showed no pathogenic mutations, resulting in a false positive rate of 1.4% (18/1263). CONCLUSION: NBS using NGS technology broadened the range of diseases screened, and enhanced the accuracy of diagnoses in comparison to MS/MS for screening IMD. Combining NGS and biochemical screening would improve the efficiency of current NBS.

Iron deficiency at birth and risk of hidden hearing loss in infants modification by socioeconomic status: mother-newborn cohort in Shenyang, China.

OBJECTIVE: The diagnosis of hidden hearing loss (HHL) in calm state has not yet been determined, while the nutritional status is not involved in its pathogenic risk factors. In utero iron deficiency (ID) may delay auditory neural maturation in infants. We evaluated the association between ID and HHL as well as the modification effect of socioeconomic status (SES) on this association in newborns. STUDY DESIGN: We included 859 mother-newborns from the baseline of this observational northeast cohort. Data on exposure assessment included iron status [maternal hemoglobin (Hb) and neonatal heel prick serum ferritin (SF)] and SES (occupation, education and income). Auditory neural maturation was reflected by auditory brainstem response (ABR) testing and electrocochleography (ECochG). RESULTS: Iron status and SES were independently and jointly associated with the prediction of neonatal HHL by logistic and linear regression model. The mediation effects were performed by Process. ID increased absolute latency wave V, interpeak latency (IPL) III-V, and summting potentials (SP) /action potentials (AP), which were combined as HHL. Low SES showed the highest risk of HHL and the highest levels of related parameters in ID newborns. Moreover, after Corona Virus Disease 2019 (COVID-19) were positive, preschool children who experience ID in neonatal period were more likely to suffer from otitis media with effusion (OME). High SES also showed similar risk effects. CONCLUSION: Both low and high SES may strengthen the risk of ID on neonatal HHL in Northeast China.

Meconium aspiration syndrome: from pathophysiology to treatment.

Meconium aspiration syndrome (MAS) is a clinical condition characterized by respiratory distress in neonates born through meconium-stained amniotic fluid (MSAF). Despite advances in obstetric practices and perinatal care, MAS remains an important cause of morbidity and mortality in term and post-term newborns. Since the 1960s, there have been significant changes in the perinatal and postnatal management of infants born through MSAF. Routine endotracheal suctioning is no longer recommended in both vigorous and non-vigorous neonates with MSAF. Supportive care along with new treatments such as surfactant, inhaled nitric oxide, and high-frequency ventilation has significantly improved the outcome of MAS patients. However, determining the most appropriate approach for this condition continues to be a topic of debate. This review offers an updated overview of the epidemiology, etiopathogenesis, diagnosis, management, and prognosis of infants with MAS.