Neonatal Diagnosis Research Articles

Positive Impacts of the Universal Newborn Screening Program on the Outcome of Children with Sickle Cell Disease in the Province of Quebec: A Retrospective Cohort Study

Background Sickle cell disease (SCD) is the most common monogenic disease worldwide. Benefits of preventive measures such as early penicillin prophylaxis and ease of neonatal diagnosis led to the inclusion of SCD in newborn screening programs (NSP) in the US and later in several Canadian provinces. Universal NSP was implemented in the province of Québec (QcNSP) in November 2013, close in time to the recommendation of early hydroxyurea (HU) therapy. Our study objective was to evaluate how the QcNSP impacted the clinical outcomes of SCD infants and children followed at CHU Ste-Justine between the age of 0-5 years of age. We hypothesized that the introduction of QcNSP has shortened the time to referral to SCD comprehensive centres and the time to HU initiation, while also reducing the number of acute SCD complications. Methodology This is a retrospective cohort study of patients referred to the pediatric comprehensive SCD centre at CHU Sainte-Justine (Montreal), a leading tertiary pediatric center in Canada from Jan 1-2000, to Dec 31-2019. To be included, patients had to be followed for at least two years. Two cohorts were defined: Cohort Pre-QcNSP included patients who had their first visit between January 1 st 2000 and October 31 st2013, whereas cohort post-QcNSP included patients who had their first visit between November 1st 2013 and December 31 st 2019. SCD genotypes were stratified into two groups: HbSS/Sß 0 and SC/Sß +. Reasons for referral were extracted. A Kaplan-Meier curve for hospitalization-free survival (HFS), a poisson regression for the number of VOC emergency (ED) visits and a logistic regression for clinical outcomes, adjusting for age at first visit, gender, place of birth, follow-up period and QcNSP were computed. The software R version 4.2.1 was used for all statistical analyses. The study was approved by the local IRB. Results Of 600 files examined, 410 met the inclusion criteria. 253 were referred pre-QcNSP, 157 post-QcNSP. There were equal gender representations in both groups, and no statistical differences between genotype representation between cohorts. Median age at 1st visit decreased from 1.2 [IQR: 0.2-6.0] pre-QcNSP to 0.2 years [IQR:0.1-4.8] post-QcNSP (p<0.001). The percentage of children born in the province of Qc diagnosed through NS increased from 48.1% (79) pre-QcNSP to 100% (102) post-QcNSP (p<0.004). The percentage of undiagnosed children born in Qc and referred after a first SCD-related complication (DRC) dropped from 42% to 0% (p<0.0001). The median age of HU-introduction for SS patients decreased from 4.5 [IQR:2.6-5.5] pre-QcNSP to 0.75 years [IQR:0.8-1.08] post-QcNSP (p<0.001). Similarly, the percentage of SS patients receiving HU by the age of 2 years old significantly increased from 28.6% preQcNSP to 59.3% post-DN patients (p=0.003). The overall percentage of SS patients eventually receiving HU was nevertheless statistically not different between cohorts (89.7% (61/68) post-QcNSP vs 82.5% (80/97) pre-QcNSP). The number of hospitalizations in HbSS/Sß 0 decreased from 2 hospitalizations/pt-year pre-QcNSP [IQR 1.0-3.0] to 1.0 [IQR: 0.6-1.4] (p<0.001). Hospitalization-free survival (HFS) also improved (257 days post-QcNSP vs. 140 days pre-QcNSP, p<0.001) for HbSS/Sß 0 patients. Similarly, HFS for VOC was significantly longer post-QcNSP (1320 days vs. 573 days, p<0.002). Evaluating ED visits for VOC, HbSS/Sß 0 children referred pre-QcNSP had much greater risk of ED-VOC visits than post-QcNSP (1.44, CI 1.22-1.67); similarly, SS/Sb 0 children referred for DRC vs NS had a higher risk of ED-visit for VOC (0.25, CI 0.02-0.48). There was however no statistical difference in SC/Sß + patients. Conclusion. In Quebec, the universalization of the NSP has enabled early detection and referral of children with SCD to comprehensive care centre. Earlier access to this expertise ensures that children benefit from the essential preventive interventions that are vaccination, prophylactic penicillin, early HU-use as well as caregiver education. These combined interventions may explain in part the improvement in acute events. This cohort study highlights that universal NSP of SCD is an essential public health measure.

Magnitude of Neonatal Admission Diagnosis and Associated Factors at Selected Hospitals in Wollo, Northeast Ethiopia

Magnitude of Neonatal Admission Diagnosis and Associated Factors at Selected Hospitals in Wollo, Northeast Ethiopia

Hospital Variation in Mortality and Failure to Rescue after Surgery for High-Risk Neonatal Diagnoses

Introduction: A large proportion of postoperative mortality after pediatric surgery occurs among neonates with specific high-risk diagnoses. The extent to which there is hospital-level mortality variation among patients with these diagnoses and whether this variation is associated with differences in failure to rescue (FTR) is unclear. Methods: The Pediatric Health Information System® database (2012–2020) was used to identify patients who underwent surgery for eight high-risk neonatal diagnoses: gastroschisis; volvulus; necrotizing enterocolitis; intestinal atresia; meconium peritonitis; tracheoesophageal fistula; congenital diaphragmatic hernia; and perinatal intestinal perforation. Hospitals were stratified into tertiles of reliability-adjusted inpatient mortality rates (lower than average mortality – tertile 1 [T1]; higher than average mortality – tertile 3 [T3]). Multivariable hierarchical regression was used to evaluate the association between hospital-level, reliability-adjusted mortality and FTR. Results: Overall, 20,838 infants were identified across 48 academic, pediatric hospitals. Adjusted hospital mortality rates ranged from 4.0% (95% CI, 0.0–8.2) to 16.3% (12.2–20.4). Median case volume (range, 80–1,238) and number of NICU beds (range, 24–126) were not significantly different across hospital tertiles. Compared to the hospitals with the lowest postoperative mortality (T1), the odds of FTR were significantly higher in hospitals with the highest (T3) postoperative mortality (odds ratio 1.97 [1.50–2.59]). Conclusions: Significant variation in neonatal hospital mortality for high-risk diagnoses does not appear to be explained by hospital structural characteristics. Rather, difference in FTR suggests quality improvement interventions targeting early recognition and management of postoperative complications could improve surgical quality and safety for high-risk neonatal care.

Relationship between infant hypothyroidism and maternal thyroid disease

Background: Due to the very high complications of neonatal hypothyroidism in the country, neonatal screening program is performed for timely diagnosis and treatment of neonates. The aim of this study to investigate the relationship between infant hypothyroidism and maternal thyroid disease. Methods: This cross-sectional study was done on 195 neonates with a diagnosis of hypothyroidism. Necessary data were collected by a checklist and then analyzed by statistical methods in statistical package for the social sciences (SPSS) version 21 by statistical methods. Results: Of all mothers, 21.0% had a history of thyroid disease. There was no statistically significant relationship between maternal age and infant thyroid stimulating hormone (TSH). There was no significant relationship between the history of maternal hypothyroidism and maternal hypothyroidism (during experiments) with the amount of TSH in the newborn. There was a direct and significant relationship between maternal TSH level and maternal free T4. But there was no statistically significant relationship between infant TSH level and maternal TSH level and free T4. There was no significant difference in neonatal TSH levels with maternal anti-TPO status. There was no significant relationship between the history of maternal diabetes and the history of maternal hypertension with neonatal TSH. There was no significant difference in neonatal TSH levels by maternal thyroid status. Conclusions: In the present study, no significant relationship was found between the incidence of neonatal hypothyroidism and the presence of thyroid disease in mothers. The existence of different genetic and environmental factors and the significant impact of each of these factors can justify this result.

Complicated Necrotizing Enterocolitis in a full-term Infant – A Case Report

Necrotizing enterocolitis (NEC) is a serious gastrointestinal disorder primarily affecting preterm infants. However, cases of NEC in full-term infants are relatively rare but can present with unique challenges and clinical features. We present a case report of a full-term baby who developed perforation due to necrotizing enterocolitis shortly after birth. The infant underwent surgery and transverse colostomy was made. Over the course of treatment, the infant showed gradual improvement and was discharged home after a hospital stay of 16 days. This case highlights the atypical presentation of NEC in a full-term infant, underscoring the importance of early recognition and prompt intervention. Although NEC is commonly associated with preterm infants, it should be considered as a potential diagnosis in full term neonates presenting with gastrointestinal symptoms. Clinicians should maintain a high index of suspicion for NEC in these cases to ensure timely management and reduce the risk of complications.

Study on Multidrug, Extensive Drug and Pan Drug Resistance in Septicemic Infants

Background: Septicemia is common in neonates and is one of the leading causes of morbidity and mortality in the early stages of life. With positive signs and symptoms, early-stage diagnosis and treatment of neonates are important to decrease death rates and complications. This article will provide an in-depth study to evaluate the resistance pattern including multi, extensive and pan drugs resistance in septicemic infants. Materials and Method: A descriptive cross-sectional study was carried out at Rehman Medical Institute (RMI), Hayatabad Medical Hospital (HMC) and Khyber Teaching Hospital (KTH), Peshawar, Khyber Pakhtunkhwa (KP) and 999 blood samples were collected from septicemic infants (1 day to 1 year of age) belonging to both genders. Blood was screened for the presence of pathogenic bacteria and their complete data was collected and analyzed with SPSS-20. Results: In total 999 collected blood samples, 105 (10.5%) were found positive for septicemia. In these 105 positive cases, males were 70 (66.6%) while 35 (33.3%) were female infants. Out of 105 positive cases, 66 (62.8%) revealed growth of Gram positive while 39 (37.1%) for Gram negative bacteria. The most common Gram positive bacterial isolates were Staphylococcus aureus 56 (53.3%) and Enterococcus spp 10 (9.5%) while Gram negative were Klebsiella pneumonia 11 (10.5%) followed by Escherichia coli 10 (9.5%), Pseudomonas aeruginosa 7(6.7%), Acinetobacter baumannii 5 (4.8%), Stenotrophomonas mettophilia 3 (2.9%) and Enterobacter, Serratia and Citrobacter spp (one isolate each). Conclusion: The S. aureus isolates were resistant to Penicillin and Cephalosporin while were sensitive to Glycopeptides and Oxazolidinone group. The Enterococcus isolates were resistant to Aminoglycoside and Macrolides group while were sensitive to Glycopeptides, Rifamycin and Oxazolidinone. The isolates of Enterobacteriaceae were mostly resistant to penicillins and were sensitive to colistin and Piperacillin/ Tazobactam. In the current study 63.8% isolates were MDR, 2.9% XDR and luckily no PDR isolate was found.

Access to emergency surgical treatment for congenital heart diseases in the state of São Paulo

ObjectiveTo analyze access to surgical care for congenital heart diseases in public specialized centers in the state of São Paulo before and during the COVID-19 pandemic and availability of surgical care in specialized hospitals, to identify bottlenecks in the care path for neonatal cardiac surgery. MethodsThis study included 1,437 children, under one year old, with congenital heart disease and formal referral to heart surgery between February 1, 2019, and February 28, 2021. Quantitative data analysis was performed using t-tests or the Mann-Whitney test. ResultsApproximately 30 % of children with urgent congenital heart disease could not access recommended care, mainly those needing complex surgeries (categories RACHS 4 to 6). The main diagnoses of neonates accessing care were patency of the ductus arteriosus (10.5 %) and coarctation of the aorta (10.1 %). Referral time for children in RACHS 1 to 3 was 4 days (median), while for those in categories 4 to 6, it was 7 days (p < 0.001). Longer referral time (20 days) was associated with court orders. During the pandemic, referral time decreased to 3 days, compared to 5 days (median) in the pre-pandemic period (p < 0.001). ConclusionThe emergency surgical treatment supply for congenital heart diseases is insufficient compared to the current demand. Future research should evaluate if access to care in publicly funded hospitals could be improved by better access to prenatal care for pregnant women, increased diagnostic and therapeutic capacity in pediatric cardiology, and financial incentives for complex cardiac surgeries.

Dengue Fever Presenting As Acute Febrile Illness In Neonates: A Case Series From Pakistant.

Dengue fever is a mosquito-borne disease caused by flavivirus. It primarily infects people living in tropical and subtropical areas and can be transmitted vertically or horizontally to new-borns. We discuss the clinical spectrum, treatment, and outcomes of five neonates who presented with dengue fever at Aga Khan Hospital for Women in Karimabad, Karachi, Pakistan, during the 2021 post- monsoon season (October to December). Dengue infection was confirmed via positive NS1 antigen test. All new-borns had fever, flushing, and thrombocytopenia. Capillary leak syndrome and haemorrhagic complications occurred in one case. Two babies required oxygen support, with one mortality. Due to the severity of the disease in this population, we suggest that dengue fever should be evaluated as a differential diagnosis in neonates with sepsis and thrombocytopenia, especially in high-risk or endemic areas. Critical management strategies for neonatal dengue fever are the same as those for other paediatric patients and include judicious use of intravenous fluids and inotropes.

Can lactate be valuable in early diagnosis and prognosis of neonatal sepsis?

Sepsis monitoring tissue perfusion is crucial for detecting circulatory failure early, implementing the right treatments, and assessing response. Insufficient oxygenation leads to a rise in lactate level and has been shown to be useful in predicting mortality and morbidity in newborns. There have not been many studies on how lactate measurement affects neonatal sepsis diagnosis and prognosis. The aim of our study was to determine the impact of lactate on early diagnosis and prognosis in neonatal sepsis. Eighty-seven newborns diagnosed with neonatal sepsis at a neonatal intensive care unit between January 2010 and July 2021 were included in the study. Venous blood gas, lactate, and C-reactive protein (CRP) levels and complete blood count on the first, second, and third day of hospitalization were noted. Lactate values were correlated with other variables to determine the impact of hyperlactatemia on morbidity and to determine factors affecting the length of stay. IBM SPSS Statistics version 22.0 for Windows was used to analyze the data (SPSS Inc., Chicago, IL, United States). A strong negative correlation between lactate and oxygenation and perfusion indicators (HCO3, BE, PaO2) during the therapeutic process was observed. With treatment, the initial measured lactate value decreased, and a significant increase in CRP and oxygen saturation was observed, which was interpreted as the observation of an early lactate response to infection before a CRP response. The initial lactate level, as well as the change in lactate levels, was not, however, significantly correlated with the length of stay. Lactate can be used in the early diagnosis of neonatal sepsis and for determining prognosis.

Spontaneous gallbladder perforation in a full-term neonate: A case report

Background: Spontaneous gall bladder perforation is an uncommon event among neonates. The etiology of perforated gall bladder in this pediatric age group is idiopathic. Only 9 cases are available in literature up till 2019. Case Presentation: We are reporting a case of spontaneous gall bladder perforation in a 15-day-old neonate who presented with vomiting, abdominal distension, and jaundice. The gall bladder was perforated near the fundus. Per-operative cholangiogram showed the normal passage of contrast. Open cholecystectomy was performed. No postoperative biliary complications were observed. Conclusion: Though Gall bladder perforation of spontaneous nature is rare but should be kept in the differential diagnosis in neonates who present with jaundice, abdominal distension, and acute abdomen.

Early Onset Sepsis in Neonates

Background Neonatal sepsis is one of the most important causes of neonatal morbidity and mortality. The most common risk factors associated with early onset sepsis (EOS) are preterm delivery, low birth weight, premature rupture of membranes, maternal urinary tract infection, Clinical manifestations of neonatal sepsis are nonspecific. These include temperature instability, respiratory distress, apnea, poor feeding, lethargy, irritability, convulsions, hypotonia, poor perfusion and abdominal distension Aim and objectives To describe epidemiology, demographic and incidence of early onset sepsis in neonate with risk factors at NICUS of Ain Shams University Hospitals. Subjects and methods This study is prospective cohort study, was carried out on 80 neonates with one or more maternal risk factors associated with EOS. Neonates will be completely evaluated and subsequently discriminated over the period of 1st 72hours of life in Neonates with risk factors for early-onset sepsis. diagnosis of EOS will be established based on the presence of any clinical evidence suggestive of sepsis, quantitatie C-reactive protein (CRP) levels ≥6 mg/dL, Rodwell’s hematological scores ≥3 and/or Tollner’s scores ≥ 10 with or without positive blood culture results, within the 1st 72 hours postnatal age. Result Among the studied maternal risk factors of neonatal sepsis in our study, 73.8% had PROM being the most common maternal risk factor for early neonatal sepsis followed by ceserian mode (C.S) of delivery 66.3%, and 26.2% had Chorioamintis. The gestational age was distributed as 36.76±3.01 with minimum 30 and maximum 42 weeks, of Ballard score 37.05±2.88 and weight was 2.87±0.82. 58.8% were females and 41.3% were males. Also, 42.5% of the studied group was preterm. 42.5% of studied group was diagnosed with sepsis. Conclusion Early diagnosis is important for early intervention and treatment. This diagnosis in neonates is usually based on clinical and laboratory findings.

Characteristics and outcomes of respiratory distress among term infants born in a regional setting.

Respiratory distress is the leading cause of admission to neonatal units and is a common indication for medical retrieval. Whilst approximately 25% of births in NSW occur in regional centres, there is a paucity of neonatal research in these settings. To describe the characteristics and outcomes of term neonates admitted with respiratory distress to two regional special care nurseries (SCNs) and identify variables associated with the need for medical retrieval. We describe a cohort of 629 term infants admitted to the SCN in two regional hospitals, 2015-2019. We describe the admission characteristics, level of respiratory support, biochemical investigations, diagnosis and outcomes. During the study period, 629 eligible term infants were admitted, retrieval occurred in 29 (4.6%). Those admitted were more often male (66.5%), with a mean gestational age of 39 + 1 weeks (±9 days) and birth weight of 3470 g (±500 g). Infants requiring medical retrieval had higher PaCO2 on blood gas analysis (59.8 mmHg vs. 53.3 mmHg, OR 1.03, p = 0.02). There was no association between maternal GBS status, meconium-stained liquor, gestational age, or raised inflammatory markers and medical retrieval. Transient tachypnoea of the newborn was the most common diagnosis of neonates admitted to SCN with respiratory distress. Among term infants admitted to a SCN for respiratory distress most were male, of a normal birthweight and born in good condition. Within our cohort there was no association between retrieval and maternal GBS colonisation, meconium-stained liquor or raised infectious biomarkers. Medical retrieval was infrequent and was associated with higher PaCO2 on initial blood gas analysis. We present a large cohort of term newborn infants managed for respiratory distress in a regional setting over a five-year period. Retrieval was infrequent, and outcomes for the cohort were excellent with no deaths during the study period.

Elevated leukotriene B4 and 8-isoprostane in exhaled breath condensate from preterm-born infants

BackgroundInflammation and oxidative stress play a key role in the development of bronchopulmonary dysplasia (BPD), possibly contributing to persistent respiratory morbidity after preterm birth. We aimed to assess if inflammatory markers were elevated in exhaled breath condensate (EBC) of infants born very prematurely (< 32 weeks gestation) at 12–16 corrected months of age, and if increased levels were associated with BPD diagnosis and respiratory morbidity.MethodsEBC samples and respiratory questionnaires were collected from 15 term-born infants and 33 preterm-born infants, 12 with a neonatal BPD diagnosis. EBC samples were analysed for leukotriene B4 (inflammation) and 8-isoprostane (oxidative stress) concentrations using enzyme-linked immune-assays. Differences between groups were analysed by Kruskal-Wallis Test with post-hoc comparisons, independent samples t-test or Mann-Whitney U test depending on normality of the data.ResultsLeukotriene B4 and 8-isoprostane levels were elevated in exhaled breath condensate of preterm-born infants compared to those born at term (mean difference [95% CI]; 1.52 [0.45, 2.59], p = 0.02; 0.77 [0.52, 1.02], p < 0.001, respectively). Leukotriene B4 and 8-isoprostane levels were independent of BPD diagnosis and respiratory morbidity over the first year of life.ConclusionsInfants born very prematurely exhibit elevated markers of airway neutrophilic inflammation and oxidative stress beyond the first year of life, regardless of a neonatal diagnosis of chronic lung disease or respiratory morbidity during infancy. These findings may have implications for future lung health.Trial RegistrationN/A.

The combination of neutrophil to lymphocyte ratio and platelet to lymphocyte ratio improves accuracy of neonatal sepsis diagnosis

Background Neonatal sepsis remains a challenging issue, due to sophisticated and time consuming tests needed to confirm a diagnosis.&#x0D; Objective To assess the applicability of neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) as diagnostic markers in neonatal sepsis.&#x0D; Methods This cross-sectional study was conducted in the Neonatology Ward of Kandou General Hospital, Manado, North Sulawesi. Neonates with suspected sepsis were included by consecutive sampling. We measured NLR and PLR form hematology profiles and differential count. Diagnosis of neonatal sepsis was based on positive blood cultures. A receiver operating characteristic (ROC) curve analysis was done to assess the NLR and PLR cut-off points. Chi-square test was used to analyze the diagnostic value of NLR and PLR.&#x0D; Results A total of 176 full term neonates with suspected sepsis were included in the study. Of these, 84 (47.7%) subjects were confirmed with neonatal sepsis and 92 (52.3%) were non-sepsis. The mean NLRs were 5.9 (95%CI 2.0 to 13.6) in the sepsis group and 1.6 (95%CI 0.2 to 3.2) in the non-sepsis group. A NLR of 3.0 was determined as the predictive cut-off value of neonatal sepsis (sensitivity 94%, speci?city 97.8%, and area under the ROC curve 0.995). NLR can effects on neonatal sepsis diagnosis by 61% . The mean PLRs were 79.9 (95%CI 44.0 to 155.8) in the sepsis group and 44.0 (95%CI 9.7 to 91.8) in the non-sepsis group. A PLR of 60.4 was determined as the predictive cut-off value of neonatal sepsis (sensitivity 86.9%, speci?city 87%, area under ROC curve 0.928). PLR can effects on neonatal sepsis diagnosis by 47.5%. When NLR and PLR were combined, they can improve accuracy of neonatal sepsis diagnosis about 72.2%.&#x0D; Conclusion Neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) can be used in combination as adjunct diagnostic tests for neonatal sepsis workups.

Traffic-related air pollution is associated with spontaneous extremely preterm birth and other adverse perinatal outcomes

Although there is growing awareness of the relationship between air pollution and preterm birth, limited data exist regarding the relationship with spontaneous preterm birth and severe neonatal outcomes. This study aimed to examine the association between traffic-associated air pollution exposure in pregnancy and adverse perinatal outcomes including extremes of preterm birth, neonatal intensive care unit admissions, low birthweight, neonatal respiratory diagnosis, neonatal respiratory support, and neonatal sepsis evaluation. This was a retrospective cohort study of singleton pregnancies of patients residing in a metropolitan area in the southern United States. Using monitors strategically located across the region, average nitrogen dioxide concentrations were obtained from the Environmental Protection Agency Air Quality System database. For patients living within 10 miles of a monitoring station, average exposure to nitrogen dioxide was estimated for individual patients' pregnancy by trimester. Logistic regression models were used to assess the effect of pollutant exposure on gestational age at birth, indicated vs spontaneous delivery, and neonatal outcomes while adjusting for maternal age, self-reported race, parity, season of conception, diabetes mellitus, body mass index, registered Health Equity Index, and nitrogen dioxide monitor region. Adjusted odds ratios and 95% confidence intervals were calculated for an interquartile increase in average nitrogen dioxide exposure. Between January 1, 2013 and December 31, 2021, 93,164 patients delivered a singleton infant. Of these, 62,189 had measured nitrogen dioxide exposure during the pregnancy from a nearby monitoring station. Higher average nitrogen dioxide exposure throughout pregnancy was significantly associated with preterm birth (adjusted odds ratio, 1.94; 95% confidence interval, 1.77-2.12) and an increase in neonatal intensive care unit admissions, low birthweight infants, neonatal respiratory diagnosis, neonatal respiratory support, and neonatal sepsis evaluation. This relationship persisted for nulliparous patients and spontaneous preterm birth, and had a greater association with earlier preterm birth. In a metropolitan area, increased exposure to the air pollutant nitrogen dioxide in pregnancy was associated with spontaneous preterm birth and had a greater association with extremely preterm birth. A greater association with neonatal intensive care unit admissions, low-birthweight infants, neonatal respiratory diagnosis, neonatal respiratory support, and neonatal sepsis evaluation was found even in term infants.

Prospective Evaluation of the Correlation of Lung Ultrasonography Score and Blood Gas Parameters in Neonates With Respiratory Distress.

Introduction Lung ultrasonography (LUS) has become frequently used in neonatal intensive care units (NICU) because it is diagnostic, useful, harmless, radiation-free, and practical for bedside use due to its portability. Objective This study aimed to evaluate the association between lung ultrasound (LUS) scores and diagnoses of neonates hospitalized for respiratory distress and determine the value of the combined use of laboratory and imaging methods in patient evaluation by looking at the correlation between blood gas parameters and LUS score. Materials and methods Between March and July 2022, a total of 55 patients who were born term or premature and admitted due to respiratory distress in the NICU of Malatya Training and Research Hospital were included in the study. In this observational, prospective study, demographic information such as birth weights, gestational weeks, mode of delivery, Apgar scores, blood gas sample results, LUS results and scores, ventilation types, and discharge time were recorded during hospitalization in our unit. According to the newborns' clinical, laboratory, and radiologic evaluations, the diagnoses of respiratory distress syndrome (RDS), transient tachypnea of the newborn (TTN), or congenital pneumonia were made, and the relationship between the diagnoses and LUS scores was evaluated. The pH value and PCO2 value in the venous blood gas obtained on the day of LUS were recorded. Correlation analysis was performed between the LUS score and pH value, LUS score and PCO2 value. Results Twenty-seven newborns were diagnosed with TTN, 18 with RDS, and 10 with congenital pneumonia. There was a statistical difference between LUS scores and diagnoses (p<0.001). According to Spearman correlation analysis, a significant negative moderate correlation was found between LUS scores and venous blood gas pH value (p<0.001, r:-0.49). There was also a significant positive low, moderate correlation with venous blood gas PCO2 value (p<0.001, r:0.36). Conclusion This study demonstrates that LUS scoring has a role in determining the severity of disease and making diagnoses in patients hospitalized for respiratory distress. When LUS is widely used, it will be informative about the severity and prognosis of the disease, together with laboratory evaluation.

Congenital heterotopic gastrointestinal duplication cyst of the face: a rare case report

Gastrointestinal duplication (GDC) cysts have various synonyms; choristoma, enterocystoma, and duplication cyst. They are infrequent congenital benign lesions diagnosed mainly in children in the first decade of life, comprising approximately less than 5% of the pediatric population with a predilection for the male sex. It is exceedingly rare in the oral cavity but it is possible, particularly on the tongue, floor of the mouth, and pharynx. From 1895 until 1994, 30 cases of this lesion in the oral cavity were reported. Nowadays, none of the authors reported a GDC in the facial region. We report an exceptional case of heterotopic gastrointestinal duplication cysts (HGDC) in the facial region of a 13 -years -old male teenager who was referred to our medical department for an evaluation of a painless progressive facial asymmetry. In the first instance, the ultrasound facial soft tissue was made with a 6.5 MHz convex transducer, reporting a big anechoic image with regular borders to a 60 x 26 x 56 mm diameter with a 46cc approximate volume. Following this, a non-contrast magnetic resonance image was executed with an open Philips PanoramaⓇ machine performed at 3T, reporting a hyperintense image in T2-weighted (repetition time msec/echo time msec: 5,500/112) sagittal sequence and FLAIR-weighted (5,714/80) axial sequence; and an isointense image in T1-weighted (24/80) coronal sequence to 54 x 30 x 51 mm diameter compatible with space occupant lesion with interior walls. A complete tumor resection was achieved under balanced general anesthesia, and the specimen was sent for histological examination. Microscopic examination showed a cystic cavity lined mostly by mucous secretory gastrointestinal epithelium and other areas by stratified squamous epithelium. The cystic wall was composed of fibrous connective tissue and contains abundant gastric cells. Its deepest portion exhibits a smooth muscle layer. In summary, HGDC is an unusual congenital head and neck lesion, but it should be considered in the differential diagnosis of neonates and children. The diagnosis of gastrointestinal tract duplications may be suggested by imaging studies; however, the correct diagnosis is defined by histopathologic analysis. Due to the risk of destruction potential and malignant transformation, HGDC should be treated surgically by complete excision.

Current status and challenges in prenatal and neonatal screening, diagnosis, and management of congenital heart disease in China.

Congenital heart disease (CHD), a wide spectrum of diseases with varied outcomes, is the most common congenital malformation worldwide. In this Series of three papers, we describe the burden of CHD in China; the development of screening, diagnosis, treatment, and follow-up strategies; and challenges associated with the disease. We also propose solutions and recommendations for policies and actions to improve the outcomes of CHD. In the first paper in this Series, we focus on prenatal and neonatal screening, diagnosis, and management of CHD. Based on advanced international knowledge, the Chinese Government has developed a network system comprising prenatal screening, diagnosis of CHD subtypes, specialist consultation appointments, and treatment centres for CHD. A new professional discipline, fetal cardiology, has been formed and rapidly developed. Consequently, the overall coverage of prenatal and neonatal screening and the accuracy of CHD diagnoses have gradually improved, and the neonatal CHD mortality rate has decreased substantially. However, China still faces several challenges in the prevention and treatment of CHD, such as insufficient diagnostic capabilities and unqualified consultation services in some regions and rural areas. TRANSLATION: For the Chinese translation of the abstract see Supplementary Materials section.

TRANSFONTANEAL BRAIN ULTRASOUND: A POWERFUL ASSESSMENT TOOL FOR CRITICALLY ILL NEONATES

The ultrasound in medicine today is already tested and proven method,with relatively longtradition and training period.It has been versed and still tested in various branches of medicine, and among the first experiences, it was in neonatesaround the 1970s.Today, monitoring and supervision critically ill neonates, particularly premature infants, placed in incubator, is almost impossible without ultrasound. By this method, we are ableexamine and evaluate critically ill neonates at the patient's bedside, with minimum manipulating, without sedation, without anesthesia or contrast agents. Transfontaneal neonatal brain ultrasoundprovides diagnosis and assessment trend of brain changes through repeated examinations, without harmful radiation to child, which is important because in some conditions, serial examination is necessary to detect the full spectrum of lesional change. This review aims to highlight the importance of transfontanel brain ultrasound in neonates, and to provide a tool for structured neonatal brain ultrasound scanning, reporting and quality assessment.Keywords:ultrasound, brain, neonate, assessment.

Retinal structure and visual pathway function at school age in children born extremely preterm: a population-based study

BackgroundChildren born extremely preterm (gestational age < 28 weeks) show reduced visual function even without any cerebral or ophthalmological neonatal diagnosis. In this study, we aimed to assess the retinal structure with optical coherence tomography (OCT) and visual function with pattern-reversal visual evoked potentials (PR-VEPs) in a geographically defined population-based cohort of school-aged children born extremely preterm. Moreover, we aimed to explore the association between measures of retinal structure and visual pathway function in this cohort.MethodsAll children born extremely preterm from 2006–2011 (n = 65) in Central Norway were invited to participate. Thirty-six children (55%) with a median age of 13 years (range = 10–16) were examined with OCT, OCT-angiography (OCT-A), and PR-VEPs. The foveal avascular zone (FAZ) and circularity, central macular vascular density, and flow were measured on OCT-A images. Central retinal thickness, circumpapillary retinal nerve fibre layer (RNFL) and inner plexiform ganglion cell layer (IPGCL) thickness were measured on OCT images. The N70-P100 peak-to-peak amplitude and N70 and P100 latencies were assessed from PR-VEPs.ResultsParticipants displayed abnormal retinal structure and P100 latencies (≥ 2 SD) compared to reference populations. Moreover, there was a negative correlation between P100 latency in large checks and RNFL (r = -.54, p = .003) and IPGCL (r = -.41, p = .003) thickness. The FAZ was smaller (p = .003), macular vascular density (p = .006) and flow were higher (p = .004), and RNFL (p = .006) and IPGCL (p = .014) were thinner in participants with ROP (n = 7).ConclusionChildren born extremely preterm without preterm brain injury sequelae have signs of persistent immaturity of retinal vasculature and neuroretinal layers. Thinner neuroretinal layers are associated with delayed P100 latency, prompting further exploration of the visual pathway development in preterms.