Comparison of Phototherapy Effect with and without Phenobarbital on the Newborns with Hyperbilirubinemia.

Objectives: Jaundice occurs in 60% of full-term and 80% of pre-term newborns. This study compared the effect of phototherapy with and without phenobarbital on icteric newborns. Materials & Methods: This study is a randomized clinical trial conducted from July until March 2018 at Imam Reza Hospital, Mashhad University of Medical Science, Iran. Full-term and near-term neonates with more than 2000 grams who were hospitalized in the mentioned period for jaundice were entered into the study. The newborns were divided into two groups using block randomization. Data were analyzed by SPSS version 19. Results: The average gestational age was 36.4 weeks (SD 2.39) in the intervention group and 36.9 weeks (SD 2.16) in the control group, with no significant difference between them. The mean hospital stay for the intervention group was 72 hours (SD 1.66), compared to 55 hours (SD 1.88) for the control group. At discharge, the serum bilirubin level in the intervention group was 11.53 mg/dL (SD 0.77), while it was 10.80 mg/dL (SD 1.09) in the control group, a statistically significant difference. Conclusion: According to this study, phototherapy with phenobarbital is not more effective than phototherapy alone in neonatal hyperbilirubinemia.

Continuous chest compression during sustained inflation versus continuous compression with asynchronized ventilation in an infantile porcine model of severe bradycardia.

Background: Recently, the American Heart Association released a statement calling for research examining the appropriate age to transition from the neonatal to pediatric cardiopulmonary resuscitation approach to resuscitation. Aim: To compare neonatal and pediatric resuscitation approach by using either continuous chest compression with asynchronized ventilation (CCaV) or continuous chest compression superimposed with sustained inflation (CC + SI) during infant cardiopulmonary resuscitation. We hypothesized that CC + SI compared to CCaV would reduce time to return of spontaneous circulation (ROSC) in infantile piglets with asphyxia-induced bradycardic cardiac arrest. Methods: Twenty infantile piglets (5-10 days old) were anesthetized and asphyxiated by clamping the endotracheal tube. Piglets were randomized to CC + SI or CCaV for resuscitation (n = 10/group). Heart rate, arterial blood pressure, carotid blood flow, cerebral oxygenation, intrathoracic pressure and respiratory parameters were continuously recorded throughout the experiment. Main results: The median (IQR) time to ROSC with CC + SI compared to CCaV was 179 (104-447) vs 660 (189-660), p = 0.05. The number of piglets achieving ROSC with CC + SI and CCaV were 8/10 and 6/10, p = 0.628. Piglets resuscitated with CC + SI required less epinephrine compared to CCaV (p = 0.039). CC + SI increased the intrathoracic pressure throughout resuscitation (p = 0.025) and increased minute ventilation (p < 0.001), compared to CCaV. There was no difference in hemodynamic parameters between groups. Conclusions: CC + SI improves resuscitative efforts of infantile piglets by increasing the intrathoracic pressure and minute ventilation, and thus reducing the duration of resuscitation, compared to CCaV.

Effects of the bladder stimulation technique on urine sample collection in newborns: A randomized controlled study.

AIM: The aim of this study is to investigate the effectiveness of the bladder stimulation technique (BST) to collect urine samples from newborns and its effects on physiological parameters and comfort of the newborn. DESIGN: This was a randomized controlled trial conducted in a NICU. A total of 64 newborns were divided into 2 groups: 32 newborns in the experimental group and 32 newborns in the control group. METHODS: Newborns in the experimental group (EG) were subjected to the BST, and in the control group (CG), urine collection was via sterile urine bags, which is routine practice. Procedural success was defined as the collection of urine samples within 3 min of beginning the stimulation technique in the experimental group and of placing the sterile urine bag in the control group. RESULTS: The success rate of the procedure in 3 min was 62.5% in the EG and 28% in the CG (P = 0.006, absolute difference: 35%, 95% confidence interval 27% to 42%, NNT: 3). According to the comparison of the overall mean COMFORTneo scale and pain and distress subscale scores at the 1- and 3-min marks, there was a significant difference between the EG and CG (p < 0.05). The mean scores in the EG were higher than those in the CG. The mean oxygen-saturation was significantly lower in the EG than in the CG (p < 0.05), and the increase in heart rate was significantly higher in the EG (p = 0.018). CONCLUSIONS: BST is a more successful method within 3 min for collecting urine samples from newborns compared to sterile urine bags. However, the newborns' comfort levels minimally decreased at 3 min, and they had moderate pain and distress, while the BST was being implemented. This increase in physiologic parameters was statistically significant but not clinically significant.

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.

Theory-based antecedents of breastfeeding among pregnant women in the United States.

Background: Breastfeeding provides several positive health benefits for the newborn child, yet breastfeeding rates remain low in the United States (US). Theory-based approaches have the potential to improve breastfeeding promotion interventions. Hence, the study examined the correlates of intention to breastfeed among US pregnant women based on the multi-theory model (MTM) of health behavior change. Methods: Using a cross-sectional design, a 36-item online survey was administered to a nationally representative sample of 315 pregnant women in the US. The instrument was psychometrically validated for face, content, and construct validity by a panel of six experts over two rounds. Further, construct validation was done by confirmatory factor analysis (CFA). Hierarchical regression modeling was employed to explain the intention to start breastfeeding and sustain exclusive breastfeeding for up to six months and with complementary foods for up to 24 months. Results: Internal consistency using Cronbach's alpha was found to be acceptable. It was found that behavioral confidence and changes in the physical environment positively affected the initiation of breastfeeding (P<0.01; adjusted R2=0.478). All three constructs of MTM namely practice for change, emotional transformation, and changes in the social environment were significant predictors for the sustenance of breastfeeding at six months (P<0.01; adjusted R2=0.591) and at 24 months (P<0.01; adjusted R2=0.347). Conclusion: Based on the findings of this study it is essential for educators and healthcare providers to design MTM-based interventions to promote breastfeeding among pregnant women in the US.

A Framework for Neonatal Prematurity Information System Development Based on a Systematic Review on Current Registries: An Original Research.

Background: Registries are regarded as a just valuable fount of data on determining neonates suffering prematurity or low birth weight (LBW), ameliorating provided care, and developing studies. Objective: This study aimed to probe the studies, including premature infants' registries, adapt the needed minimum data set, and provide an offered framework for premature infants' registries. Material and Methods: For this descriptive study, electronic databases including PubMed, Scopus, Web of Science, ProQuest, and Embase/Medline were searched. In addition, a review of gray literature was undertaken to identify relevant studies in English on current registries and databases. Screening of titles, abstracts, and full texts was conducted independently based on PRISMA guidelines. The basic registry information, scope, registry type, data source, the purpose of the registry, and important variables were extracted and analyzed. Results: Fifty-six papers were qualified and contained in the process that presented 51 systems and databases linked in prematurity at the popular and government levels in 34 countries from 1963 to 2017. As a central model of the information management system and knowledge management, a prematurity registry framework was offered based on data, information, and knowledge structure. Conclusion: To the best of our knowledge, this is a comprehensive study that has systematically reviewed prematurity-related registries. Since there are international standards to develop new registries, the proposed framework in this article can be beneficial too. This framework is essential not only to facilitate the prematurity registry design but also to help the collection of high-value clinical data necessary for the acquisition of better clinical knowledge.

Association between Maternal Body Mass Index and Fetal Acidosis in Term Twin Pregnancies: A Retrospective Cohort Study.

OBJECTIVE: Given the increased risk of fetal acidosis in singleton neonates born to pregnant people with an elevated body mass index (BMI), our objective was to evaluate the association between pre-pregnancy/first trimester BMI and fetal acidosis among term twin pregnancies. METHODS: Retrospective study of pregnant people with twin gestation and their term infants admitted to our centre between 2014 and 2019. Using a generalized estimating equation, the association between maternal BMI and fetal acidosis was determined using odds ratios (OR) with 95% confidence intervals (CI). A two-sided P value < 0.05 was considered significant. RESULTS: A total of 275 pregnant people and 550 infants were analyzed. The number (%) of pregnancies in each BMI class were 10 (4%) underweight, 155 (56%) normal weight, 66 (24%) overweight, 22 (8%) class I, 9 (3%) class II, and 13 (5%) class III. The prevalence of maternal diabetes and hypertension was highest in class III (31%) and class II (44%), respectively. Fetal acidosis was diagnosed in 35 (6%) infants. After adjusting for confounders (maternal age, diabetes, and hypertension), infants born to those with elevated BMI did not have increased odds of fetal acidosis compared to those born to underweight and normal weight group [OR of 1.29 (95% CI 0.38-4.41) for class I (P = 0.67) and OR of 2.80 (95% CI 0.62-12.62) for the combined classes II and III (P = 0.18)]. CONCLUSION: Maternal BMI was not associated with fetal acidosis in term twin pregnancies. Further research is required to corroborate study findings due to small sample size.

Quality of maternal and newborn health services and their impact on maternal-neonatal outcome at a primary health center.

Introduction: The utilization of the maternal and newborn health services has increased, but mere increase in utilization of services does not ensure that quality services are being provided. The aim of the study was to assess the quality of maternal and newborn services and their impact on maternal and neonatal outcome at a primary health center of Western Rajasthan in India. Materials and Methods: An exploratory study was undertaken at a conveniently selected primary health center providing 24-hour delivery services. Information regarding the availability of services was collected from the available medical officer in charge using an Indian Public Health Standards (IPHS) Proforma. Assessment of quality of services was performed by using WHO standards of care based on assessment of quality of maternal and newborn services tool by the perspectives of the provider as well as the mothers utilizing the services. 36 mothers who delivered at the selected PHC were interviewed. Results: All basic obstetric care services were available at the selected primary health centers including the 24 × 7 delivery services. The assessment of quality by provider's perspective revealed that the system of referral could be improved. Quality of maternal and newborn services assessment revealed that the practice of skin to skin contact between the mother and newborn just after the delivery was not being followed and few (30%) mothers informed that they could not start breastfeeding within 1 hours of birth. 47% mothers reported that they were not given the freedom to ask questions during delivery. Maternal and newborn outcome revealed that all mothers (100%) had a normal vaginal delivery, and 22% mothers had an episiotomy. All (100%) newborns cried immediately after birth, and average birthweight was 2.89 kg. Conclusion: PHCs are the first point of contact of mothers and healthcare delivery system. Assessment of quality of services is an important tool for quality assurance. Inclusion of evidence-based practices like skin-to-skin contact and early initiation of breastfeeding is important to improve the maternal and newborn well-being.

Multi-strain probiotics during pregnancy in women with obesity influence infant gut microbiome development: results from a randomized, double-blind placebo-controlled study.

Probiotics have been described to influence host health and prevent the risk of obesity by gut microbiome (GM) modulation. In a randomized double-blinded placebo-controlled feasibility study, we investigated whether Vivomixx® multi-strain probiotics administered to 50 women with obesity during pregnancy altered the GM composition and perinatal health outcomes of their infants up to 9 months after birth. The mothers and infants were followed up with four visits after birth: at 3 d, and at 3, 6, and 9 months after delivery. The infants were monitored by anthropometric measurements, fecal sample analysis, and questionnaires regarding health and diet.The study setup after birth was feasible, and the women and infants were willing to participate in additional study visits and collection of fecal samples during the 9-month follow-up. In total, 47 newborns were included for microbiome analysis.Maternal prenatal Vivomixx® administration did not alter infant GM diversity nor differential abundance, and the probiotic strains were not vertically transferred. However, the infant GM exhibited a decreased prevalence of the obesity-associated genera, Collinsella, in the probiotic group and of the metabolic health-associated Akkermansia in the placebo group, indicating that indirect community-scale effects of Vivomixx® on the GM of the mothers could be transferred to the infant.Moreover, 3 d after birth, the GM of the infant was influenced by mode of delivery and antibiotics administered during birth. Vaginally delivered infants had increased diversity and relative abundance of the metabolic health-associated Bifidobacterium and Bacteroides while having a decreased relative abundance of Enterococcus compared with infants delivered by cesarean section. Maternal antibiotic administration during birth resulted in a decreased relative abundance of Bifidobacteriumin the GM of the infants. In conclusion, this study observed potential effects on obesity-associated infant GM after maternal probiotic supplementation.

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Metachromatic leukodystrophy (MLD) is a fatal, progressive neurodegenerative disorder caused by biallelic pathogenic mutations in the ARSA (Arylsulfatase A) gene. With the advent of presymptomatic diagnosis and the availability of therapies with a narrow window for intervention, it is critical to define a standardized approach to diagnosis, presymptomatic monitoring, and clinical care. To meet the needs of the MLD community, a panel of MLD experts was established to develop disease-specific guidelines based on healthcare resources in the United States. This group developed a consensus opinion for best-practice recommendations, as follows: (i) Diagnosis should include both genetic and biochemical testing; (ii) Early diagnosis and treatment for MLD is associated with improved clinical outcomes; (iii) The panel supported the development of newborn screening to accelerate the time to diagnosis and treatment; (iv) Clinical management of MLD should include specialists familiar with the disease who are able to follow patients longitudinally; (v) In early onset MLD, including late infantile and early juvenile subtypes, ex vivo gene therapy should be considered for presymptomatic patients where available; (vi) In late-onset MLD, including late juvenile and adult subtypes, hematopoietic cell transplant (HCT) should be considered for patients with no or minimal disease involvement. This document summarizes current guidance on the presymptomatic monitoring of children affected by MLD as well as the clinical management of symptomatic patients. Future data-driven evidence and evolution of these recommendations will be important to stratify clinical treatment options and improve clinical care.

Factors Associated with Mothers Health Seeking Behavior among Newborn Illness.

BACKGROUND: Inappropriate, delayed and poor health seeking behavior increases the high risk of morbidity and mortality among newborns, infants and children. Newborns health status depends upon mothers' health seeking behavior. This study aimed to determine the factors associated with mother's health seeking behavior among newborn illness in Rupandehi District, Nepal. METHODS: Community based cross-sectional study among 372 mothers aged 15-49 years was conducted in Rupandehi district Nepal from May to November 2019. Multistage probability random sampling was used as the sampling technique. Siddharthanagar municipality and Mayadevi rural municipality were selected randomly among 16 local units of Rupandehi district. Two wards from each unit were selected by stratified random sampling using non replacement lottery method. As the sample size was 372, ninety three respondents were selected randomly from each ward. RESULTS: The mean age and standard deviation of mothers was 25.32±4.36 years respectively. Among 372 mothers, 21.24% had poor health seeking behavior. Mothers having more than one child (AOR=0.15; CI: 0.02-0.98), primary and above education (AOR=8.89; CI: 3.15-25.08), visited hospital after 24 hours of newborn illness (AOR=13.59; CI: 1.73-106.7), knew danger signs of newborn (AOR=18.74; CI: 5.65-62.23), practiced exclusive breastfeeding (AOR=8.20; CI: 3.36-20.03) were significantly associated with health seeking behavior. CONCLUSIONS: Almost 22 % of mothers had poor health seeking behavior regarding their newborn illness. Number of living child, education of mother, appropriate time for treatment, receive health services when there is dangers signs of newborn and exclusive breast feeding practice were independent factors associated with mother's health seeking behavior. Hence, decision-makers and local administrator should provide specific intervention to newborns' mother regarding family planning, identifying and preventing danger signs of newborn, importance of appropriate time of treatment and exclusive breastfeeding.

Pregnant and postpartum women's experiences of the indirect impacts of the COVID-19 pandemic in high-income countries: a qualitative evidence synthesis.

BACKGROUND: Pregnant and postpartum women's experiences of the COVID-19 pandemic, as well as the emotional and psychosocial impact of COVID-19 on perinatal health, has been well-documented across high-income countries. Increased anxiety and fear, isolation, as well as a disrupted pregnancy and postnatal period are widely described in many studies. The aim of this study was to explore, describe and synthesise studies that addressed the experiences of pregnant and postpartum women in high-income countries during the first two years of the pandemic. METHODS: A qualitative evidence synthesis of studies relating to women's experiences in high-income countries during the pandemic were included. Two reviewers extracted the data using a thematic synthesis approach and NVivo 20 software. The GRADE-CERQual (Confidence in the Evidence from Reviews of Qualitative research) was used to assess confidence in review findings. RESULTS: Sixty-eight studies were eligible and subjected to a sampling framework to ensure data richness. In total, 36 sampled studies contributed to the development of themes, sub-themes and review findings. There were six over-arching themes: (1) dealing with public health restrictions; (2) navigating changing health policies; (3) adapting to alternative ways of receiving social support; (4) dealing with impacts on their own mental health; (5) managing the new and changing information; and (6) being resilient and optimistic. Seventeen review findings were developed under these themes with high to moderate confidence according to the GRADE-CERQual assessment. CONCLUSIONS: The findings from this synthesis offer different strategies for practice and policy makers to better support women, babies and their families in future emergency responses. These strategies include optimising care delivery, enhancing communication, and supporting social and mental wellbeing.

The timing of minimally invasive surgery for prenatally diagnosed choledochal cysts.

OBJECTIVE: There are no clear evidence-based recommendations concerning when patients with prenatally diagnosed choledochal cysts (CCs) should undergo surgery. This study was primarily designed to explore the proper timing of minimally invasive surgery for prenatally diagnosed CC patients. METHODS: Seventy-three patients with prenatally diagnosed CC were enrolled in this study and divided into 4 subgroups according to age at surgery (15 patients in the < 1 month group, 27 in the 1-2 months group, 14 in the 2-3 months group and 17 in the > 3 months group). Eighty-five healthy infants were recruited and divided into 4 age groups (29 in the < 1 month group, 20 in the 1-2 month group, 19 in the 2-3 month group and 17 in the > 3 month group). Preoperative data were collected and compared between CC patients and healthy controls in 4 age groups. Additionally, 73 patients were divided into laparoscopic and open groups to compare postoperative recovery indices and the occurrence of complications to determine the safety and feasibility of laparoscopic CC application in neonates and young infants. RESULTS: Twenty-one of 73 (28.8%) patients who were prenatally diagnosed with CCs experienced various clinical symptoms, and 15 of 21 (71.4%) patients experienced clinical symptoms less than 2 months after birth. No differences were found in alanine transaminase (ALT), aspartate transaminase (AST) or aspartate transaminase (APRI) levels between CC patients and controls at ≤ 1 month or 1-2 months of age (all p > 0.05), while higher levels were found in CC patients at 2-3 months or > 3 months of age (all p < 0.05). ALT, AST and DBIL levels 1 week after surgery were significantly lower than those before surgery in CC patients who underwent laparoscopic CC excision at > 2 months of age, while DBIL levels 1 week after surgery were also significantly lower than those before surgery in patients who underwent CC excision at ≤ 2 months of age. The initial oral feeding time in the laparoscopic surgery group was significantly earlier than that in the open surgery group for both CC patients who underwent CC excision at ≤ 2 months of age and those > 2 months of age (all p < 0.05). No differences were found in the rates of anastomotic leakage or stricture formation between the laparoscopic and open surgery groups at ≤ 2 months or > 2 months of age. CONCLUSION: Most clinical symptoms attributed to CC occur less than 2 months after birth, while liver function and liver fibrosis may deteriorate after 2 months of age in patients with prenatally diagnosed CC. Laparoscopic surgery for CC in newborns and young infants (either less than or more than 2 months old) is safe and feasible and can shorten the initial oral feeding time without increasing complications such as postoperative anastomotic leakage or stricture. Thus, performing laparoscopic CC excisions within 2 months after birth in patients with prenatally diagnosed CC may be appropriate.

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.

BACKGROUND: Compare the differences between normal newborns and high-risk children with inherited metabolic diseases. The disease profile includes amino acidemias, fatty acid oxidation disorders, and organic acidemias. METHODS: Data was collected on newborns and children from high-risk populations in Shanghai from December 2010 to December 2020. RESULTS: 232,561 newborns were screened for disorders of organic, amino acid, and fatty acid metabolism. The initial positive rate was 0.66 % (1,526/232,561) and the positive recall rate was 77.85 %. The positive predictive value is 4.71 %. Among them, 56 cases were diagnosed as metabolic abnormalities. The total incidence rate is 1:4153. Hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase are the most common diseases in newborns. In addition, in 56 children, 39 (69.42 %) were diagnosed by genetic sequencing. Some hotspot mutations in 14 IEMs have been observed, including PAH gene c.728G > A, c.611A > G, and ACADS gene c. 1031A > G, c.164C > T. A total of 49,860 symptomatic patients were screened, of which 185 were diagnosed with IEM, with a detection rate of 0.37 %. The most commonly diagnosed diseases in high-risk infants aremethylmalonic acidemia and hyperphenylalaninemia. CONCLUSION: There are more clinical cases of congenital metabolic errors diagnosed by tandem mass spectrometry than newborn screening. The spectrum of diseases, prevalence, and genetic characteristics of normal newborns and high-risk children are quite different.

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.

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.

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.

Repeated intravenous doses of human umbilical cord-derived mesenchymal stromal cells for bronchopulmonary dysplasia: results of a phase 1 clinical trial with 2-year follow-up.

BACKGROUND: Currently, there is a lack of effective treatments or preventive strategies for bronchopulmonary dysplasia (BPD). Pre-clinical studies with mesenchymal stromal cells (MSCs) have yielded encouraging results. The safety of administering repeated intravenous doses of umbilical cord tissue-derived mesenchymal stromal cells (UC-MSCs) has not yet been tested in extremely-low-gestational-age newborns (ELGANs). AIMS: to test the safety and feasibility of administering three sequential intravenous doses of UC-MSCs every 7 days to ELGANs at risk of developing BPD. METHODS: In this phase 1 clinical trial, we recruited ELGANs (birth weight ≤1250 g and ≤28 weeks in gestational age [GA]) who were on invasive mechanical ventilation (IMV) with FiO2 ≥ 0.3 at postnatal days 7-14. Three doses of 5 × 106/kg of UC-MSCs were intravenously administered at weekly intervals. Adverse effects and prematurity-related morbidities were recorded. RESULTS: From April 2019 to July 2020, 10 patients were recruited with a mean GA of 25.2 ± 0.8 weeks and a mean birth weight of 659.8 ± 153.8 g. All patients received three intravenous UC-MSC doses. The first dose was administered at a mean of 16.6 ± 2.9 postnatal days. All patients were diagnosed with BPD. All patients were discharged from the hospital. No deaths or any serious adverse events related to the infusion of UC-MSCs were observed during administration, hospital stays or at 2-year follow-up. CONCLUSIONS: The administration of repeated intravenous infusion of UC-MSCs in ELGANs at a high risk of developing BPD was feasible and safe in the short- and mid-term follow-up.

[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.