Lens Thickness in Infants and Children with Cataracts.

Purpose: The purpose of this study was to determine the association between lens thickness and cataract in participants aged 0 to 5 years. Design: This was a prospective, multicenter, case-control study. Participants: We enrolled 118 participants (171 eyes) aged 0 to 5 years, mean age 14.6 ± 17.0 months, range 0 to 60 months. Methods: Lens thickness was measured on 342 ultrasound biomicroscopy (UBM) images. Main Outcome Measures: Lens thickness; feasibility of lens thickness measurement from UBM images. Results: The mean lens thickness among noncataracts was 3.60 ± 0.17 mm, compared with 3.16 ± 0.61 mm among cataracts (P < 0.0001). Lens thickness <3.5 mm was significantly associated with increased odds of cataract; adjusted odds ratio = 5.99 (95% confidence interval, 2.41-14.88; P < 0.0003) among participants age 0 to 7 months. Lens thickness was significantly associated with cataract laterality among participants age 0 to 7 months (P < 0.0001). Conclusions: Quantitative UBM can be used to evaluate lens thickness in infants and children with congenital cataracts. The lens in congenital cataract eyes was thinner than that of controls among infants. Abnormal lens thickness was significantly associated with cataract. Future longitudinal studies will examine the association between lens thickness and postcataract surgery outcomes. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Laparoscopic Versus Conventional Open Congenital Duodenal Obstruction Repair: A Systematic Review and Meta-analysis.

BACKGROUND: We conducted a systematic review and meta-analysis to evaluate the safety and effectiveness of laparoscopic surgery (LS) compared to open surgery (OS) for congenital duodenal obstruction (CDO). METHODS: We conducted a literature review to find studies comparing LS and OS in neonates with CDO. A meta-analysis was conducted to systematically compile and compare factors, including surgical duration, time of feeding initiation, hospital length of stay (LOS), and postoperative complications. RESULTS: Eleven studies with 1615 patients (LS: 338, OS: 1277) met inclusion criteria. Operative time was observed to be much shorter in the OS group (I2 = 97%); weighted mean difference (WMD) 60.29; 95% confidence interval (CI): 30.29 to 90.28; p < 0.0001). The LS group had a significantly shorter time to initiate feeding (I2 = 0%; WMD -3.38, 95% CI: -4.35 to -2.41; p < 0.00001), shorter time to full feeding (I2 = 0%; WMD -3.64, 95% CI: -5.06 to -2.22; p < 0.00001), and shorter LOS (I2 = 52%; WMD -3.42, 95% CI: -5.75 to -1.08; p = 0.004). There were no significantly differences in the rates of anastomotic leak (I2 = 24%; OR 0.76, 95% CI: 0.12 to 4.67; p = 0.76), anastomotic stricture (I2 = 0%; OR 1.12, 95% CI: 0.39 to 3.20; p = 0.83), postoperative ileus (I2 = 0%; OR 0.60, 95% CI: 0.21 to 1.74; p = 0.34), and overall complications between the groups (I2 = 59%; OR 0.86, 95% CI: 0.42 to 1.74; p = 0.68). The LS group, however, had a significantly decreased frequency of wound infection (I2 = 0%; OR 0.26, 95% CI: 0.08 to 0.82; p = 0.02). CONCLUSION: Despite certain limitations in our analysis, the laparoscopic approach was associated with comparable postoperative outcomes. LEVELS OF EVIDENCE: 2a. TYPE OF THE STUDY: Meta analysis.

Prenatal Diagnosis and Clinical Outcomes of Isolated Mega Cisterna Magna.

Objective: The study aimed to investigate the clinical outcomes of fetuses diagnosed with isolated mega cisterna magna in utero. Methods: A multicenter retrospective cohort study was conducted across 18 university hospitals from 2010 to 2019. Cases diagnosed with isolated mega cisterna magna, defined as a cisterna magna >10 mm with a normal cerebellar vermis and no cystic dilation of the fourth ventricle, were included. Cases with other central nervous system (CNS) anomalies, extra-central nervous system anomalies, chromosomal abnormalities, or congenital infections were excluded. Maternal demographics, prenatal findings, delivery outcomes, and postnatal outcomes were analyzed. Results: The mean gestational age at initial diagnosis was 28.6 ± 3.9 weeks, and the mean anteroposterior diameter of the cisterna magna was 12.5 ± 3.2 mm. Of the 71 cases initially assessed, 48 (67.6%) showed self-regression in utero. Postnatally, 13 cases (18.3%) had persistent isolated mega cisterna magna, whereas 10 cases (14.1%) were diagnosed with other central nervous system anomalies. Among the persistent isolated mega cisterna magna cases, one child exhibited delayed neurodevelopment. There was a higher incidence of isolated mega cisterna magna in male fetuses, which exhibited a significantly larger mean cisterna magna diameter compared with female fetuses (P = .045). Conclusion: Male fetuses exhibited a higher incidence of isolated mega cisterna magna compared with female fetuses and had larger anteroposterior diameters of the cisterna magna. The study demonstrated favorable neurodevelopmental outcomes associated with isolated mega cisterna magna, with self-regression observed in two-thirds of the cases. However, consecutive prenatal and postnatal evaluations for additional central nervous system or extra-central nervous system malformations need to be performed, considering the differences between prenatal and postnatal diagnoses.

Prospective Evaluation of Extubation Failure in Neonates and Infants After Cardiac Surgery.

Background: Extubation failure and its associated complications are not uncommon after pediatric cardiac surgery, especially in neonates and young infants. We aimed to identify the frequency, etiologies, and clinical characteristics associated with extubation failure after cardiac surgery in neonates and young infants. Methods: We conducted a single center prospective observational study of patients ≤180 days undergoing cardiac surgery between June 2022 and May 2023 with at least one extubation attempt. Patients who failed extubation, defined as reintubation within 72 h of first extubation attempt, were compared with patients extubated successfully using χ2, Fisher exact, or Wilcoxon rank-sum tests as appropriate. Results: We prospectively enrolled 132 patients who met inclusion criteria, of which 11 (8.3%) failed extubation. Median time to reintubation was 25.5 h (range 0.4-55.8). Extubation failures occurring within 12 h (n = 4) were attributed to upper airway obstruction or apnea, whereas extubation failures occurring between 12 and 72 h (n = 7) were more likely to be due to intrinsic lung disease or cardiac dysfunction. Underlying genetic anomalies, greater weight relative to baseline at extubation, or receiving positive end expiratory pressure (PEEP) > 5 cmH2O at extubation were significantly associated with extubation failure. Conclusions: In this study of neonates and young infants recovering from cardiac surgery, etiologies of early versus later extubation failure involved different pathophysiology. We also identified weight relative to baseline and PEEP at extubation as possible modifiable targets for future investigations of extubation failure in this patient population.

Large congenital myopericytoma of the lower eyelid.

Congenital fibrous soft tissue tumors in the eyelids are exceptionally rare, with only seven cases of neonatal myofibromas reported. Myopericytoma, a variant with pericytic differentiation, has not previously been described in neonatal eyelid tumors. This report details a case of a massive congenital myopericytoma in a newborn's lower eyelid. The lesion had a broad area of adhesion to the anterior lamella of the lid. After resection, when the child was 11 days old, the resulting defect was successfully reconstructed with a V-Y type perforator-based flap.

Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing.

Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, 'kinky' hair, connective tissue dysfunction and developmental regression after 2-3 months of age. The primary variant associated with Menkes is in the ATP7A gene with X-linked recessive inheritance. Historically, the diagnosis of Menkes has relied on clinical signs and symptoms, but as the disease has varying levels of severity and presentation, it can take months to diagnose and treat. Emerging technology for ultrarapid genome sequencing offers a DNA-based route of diagnosis with preliminary results in hours, allowing for earlier discovery and treatment of Menkes with the potential for better long-term outcomes. Ultrarapid whole genome sequencing identified a novel, likely pathogenic, frameshift variant in the ATP7A gene consistent with a diagnosis of Menkes disease. The clinical manifestations and pathophysiology of this disorder, as well as a rapid DNA-based diagnosis, are described in this case.

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

PURPOSE: Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P. METHODS: Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher's Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant. RESULTS: Genetic anomalies in CDH+CL/P included trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome (4p16.3 deletion). CL/P prevalence in CDH was 0.7%. CDH+CL/P had lower survival rates than CDH-, a nearly fourfold risk of death within 7 days, were less supported with extracorporeal life support (ECLS), had higher non-repair rates, and survivors had longer length of hospital stay. CONCLUSION: Genetic anomalies, e.g. trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome, are seen in patients with the combination of CDH and orofacial clefts. CL/P in CDH patients is rare and associated with poorer outcomes compared to CDH-, influenced by goals of care decision-making.

Classic ear moulding technique for a lop ear deformity: case report.

Introduction and importance: Lop ear is a congenital auricular deformity (CAD) detected at birth. It can negatively impact aesthetic appearance and the mental health of both the parents and the infant. Therefore, a treatment initiated at an early age is imperative. Case presentation: A male newborn patient on his 11th week of his life presented with his mother to the Maxillofacial Prosthodontic Unit. The extraoral examination showed a pendulous upper part of the auricle covering the antihelix with no deficiencies. The newborn's hearing function was normal and no associated syndrome was identified. The patient was diagnosed with congenital unilateral lop ear (Tanzer grade II constricted ear). A non-surgical correction with a classic ear moulding device was attempted at the 11th week after birth to reshape the abnormal ear. Clinical discussion: CADs are traditionally managed by an otoplasty at age 6. Unfortunately, this option can cause many unpredictable complications, such as anaesthesia risks and under-correction. Therefore, the classic non-surgical correction of congenital auricular deformities is a non-surgical and earlier alternative to otoplasty. Moreover, many patients present at an older age; an auricular moulding device can still be a successful treatment option for these older patients. Conclusion: Classic ear moulding is an early non-surgical alternative to otoplasty for managing congenital ear abnormalities. It can be initiated as early as 6 weeks after birth. Including an ear examination as a routine in every child's immediate post-birth physical examination is crucial for early diagnosis and better outcomes.

Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract.

Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by several malformations. Its prevalence is 0.3-0.6% in live births. The B-cell lymphoma (BCL-2) gene regulates apoptosis, and the Leukemia Inhibitory Factor (LIF) gene plays a role in many biological processes, such as blastocyst growth and uterine preparation for implantation. In this study, two single nucleotide polymorphisms (SNPs) of the BCL-2 gene (rs2279115 and rs4987856) and one SNP of the LIF gene (rs929271) were investigated in CAKUT patients for the first time. Methods: Hundred and twenty-nine CAKUT patients and 105 controls were enrolled in this study. We used polymerase chain reaction-restriction fragment length polymorphism for rs2279115 and rs929271 and SNaPshot for rs4987856. The χ2 test was used to compare discrete variables, and the independent sample t test was used to compare continuous variables. Results: The allele frequencies for the rs2279115 and rs4987856 polymorphisms of BCL-2 and the rs929271 polymorphism of LIF were not significantly different between the patient and control groups (p = 0.162, p = 0.053, p = 0.635, respectively). However, the co-segregation analysis revealed a significant difference in the distribution of allele frequencies between the patient and control groups for two genetic variations: LIF rs929271 SNP and BCL-2 rs4987856 SNP (p = 0.034). The relative odds ratio was 2.444 (95% Confidence Interval (CI) 1.054-5.671). Conclusion: This study, which is the first time in the literature, showed that changes in BCL-2 and LIF genes are associated with CAKUT disease.

A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations.

Background: Spondyloepiphyseal dysplasia (SED) is characterized by skeletal dysplasia and multiple joint dislocations. SEDs encompass various types, such as SED congenita, SED tarda (SED-T), SED with congenital joint dislocations (SED-CJD), SED stanescu, and SED-T with progressive arthropathy. Methods and Results: In the present study, we clinically and genetically characterized a consanguineous Pakistani family with SED-CJD. The affected member showed large joint dislocation, spinal deformities, and previously unreported facial features. Exome sequencing followed by Sanger sequencing revealed a missense variant, [c.601T>A; p.(Tyr201Asn)], in the CHST3. Conclusion: This study has not only expended the mutation spectrum in the gene CHST3 but also will facilitate diagnosis and genetic counseling of related features in the Pakistani population.

Twin Pregnancy in Patient With Fontan Circulation and Homozygous MTHFR Mutation.

Singleton pregnancy in Fontan patients is burdened by a significant maternal cardiovascular and obstetric risk. The cardiac workload in a twin pregnancy is greater and could place Fontan-palliated patients at an increased risk of complications. We report a case of a woman with Fontan circulation and homozygous MTHFR mutation who had a twin pregnancy.

Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice.

BACKGROUND: Ullrich congenital muscular dystrophy (UCMD) is caused by a deficiency in type 6 collagen (COL6) due to mutations in COL6A1, COL6A2, or COL6A3. COL6 deficiency alters the extracellular matrix structure and biomechanical properties, leading to mitochondrial defects and impaired muscle regeneration. Therefore, mesenchymal stromal cells (MSCs) that secrete COL6 have attracted attention as potential therapeutic targets. Various tissue-derived MSCs exert therapeutic effects in various diseases. However, no reports have compared the effects of MSCs of different origins on UCMD pathology. METHODS: To evaluate which MSC population has the highest therapeutic efficacy for UCMD, in vivo (transplantation of MSCs to Col6a1-KO/NSG mice) and in vitro experiments (muscle stem cell [MuSCs] co-culture with MSCs) were conducted using adipose tissue-derived MSCs, bone marrow-derived MSCs, and xeno-free-induced iPSC-derived MSCs (XF-iMSCs). RESULTS: In transplantation experiments on Col6a1-KO/NSG mice, the group transplanted with XF-iMSCs showed significantly enhanced muscle fiber regeneration compared to the other groups 1 week after transplantation. At 12 weeks after transplantation, only the XF-iMSCs transplantation group showed a significantly larger muscle fiber diameter than the other groups without inducing fibrosis, which was observed in the other transplantation groups. Similarly, in co-culture experiments, XF-iMSCs were found to more effectively promote the fusion and differentiation of MuSCs derived from Col6a1-KO/NSG mice than the other primary MSCs investigated in this study. Additionally, in vitro knockdown and supplementation experiments suggested that the IGF2 secreted by XF-iMSCs promoted MuSC differentiation. CONCLUSION: XF-iMSCs are promising candidates for promoting muscle regeneration while avoiding fibrosis, offering a safer and more effective therapeutic approach for UCMD than other potential therapies.

Bilateral Choanal Atresia in 24 Years Old Woman: A Case Report.

Background: Choanal atresia is a congenital anomaly characterized by an absence of the nasal choanae due to Failure to recanalize the nasal fossae during embryogenesis. Instances involving unilateral Choanal atresia may go unidentified for extended periods. Bilateral choanal atresia presenting in adulthood is an infrequent occurrence. Case Presentation: A case of bilateral choanal atresia in a female 24-year-old presenting to our otolaryngology department's out clinics with long-standing nasal obstruction, mouth breathing, and anosmia. She underwent endoscopic choanoplasty to reestablish patency of the posterior choana. Follow-up after one month revealed patent posterior choana. Conclusion: Bilateral choanal atresia requires early surgical intervention in infants for survival. Adult presentations are rare. Nasal endoscopy and CT help determine the surgical approach. Endoscopic trans-nasal Chonaolplasty is typically the standard treatment.

Risk of self-harm ideation in mothers of children with orofacial cleft defects: the Japan environment and children's study.

Introduction: Cleft lip and/or palate (CL/P), the most prevalent congenital anomaly, has been associated with higher rates of child maltreatment. In particular, the presence of cleft lip has more of an impact on external appearance and may increase the risks of negative health outcomes such as parental postpartum depression; however, this concept remains controversial. Item #10 of the Edinburgh Postpartum Depression Scale is the assessment of parental self-harm ideation, and its presence in postpartum mothers merits risk assessments as an emergent issue that may affect the health of both mothers and infants. This study focused on the impact of CL/P on maternal self-harm ideation. Methods: Of 100,300 live births from a nationwide birth cohort in Japan, 238 mothers of infants with CL/P [186 children born with cleft lip (CL ± P) and 52 born with isolated cleft palate (CP)] were included in the analyses. The prospective association of children with CL/P and maternal self-harm ideation, which were acquired using item #10 in the Edinburgh Postpartum Depression Scale at 1 and 6 months postpartum, was examined using binomial logistic regression analyses after multiple imputations and with adjustments for several maternal (age at delivery, smoking habit, and alcohol intake) and child-related (sex and prevalence of other congenital diseases) variables. Results: The prevalence of self-harm ideation in 238 mothers of infants with CL/P at 1 and 6 months were 14.7% (35/238) and 18.8% (45/238) [8.2% (8,185/100,062) and 12.9% (12,875/100,062) in the control group], respectively. The odds ratio (95% confidence interval) for maternal self-harm ideation increased with CL/P prevalence [1.80 (1.22-2.65) and 1.47 (0.98-2.18)] at 1 and 6 months of age, respectively. After stratified by the prevalence of cleft lip, we found significant differences in the CL ± P group but not in the CP group. Furthermore, persistent self-harming ideation was associated with a higher risk in the CL ± P group [2.36 (1.43-3.89)]. Conclusion: CL/P, particularly cleft lip, which is more noticeable externally, was associated with an increased prevalence of maternal self-harm ideation. The findings in this study indicate some potential benefits of increasing support for mothers who have infants with CL/P.

Risk factors and early outcomes associated with prolonged pleural effusion/chylothorax after paediatric cardiac surgery.

OBJECTIVES: Prolonged pleural effusion/chylothorax (PPE/C) is a less investigated complication following paediatric cardiac surgery, and its true incidence, risk factors and impact on postoperative outcomes are not well described. We aim to address these gaps in knowledge using data from a prospective, multicentre study. METHODS: Data on 9 post-operative morbidities (unplanned reinterventions, extracorporeal life support, necrotising enterocolitis, PPE/C, renal replacement therapy, major adverse events, acute neurological events, feeding issues and postsurgical infection) were prospectively collected at 5 UK centres between 2015 and 2017, following paediatric cardiac surgery. Incidence of PPE/C, associations with procedure types, and risk factors were described. Mortality (30-day and 6-month) and hospital length of stay (HLoS) were compared between those with isolated PPE/C, single non-PPE/C morbidity, no morbidity, multimorbidity PPE/C and non-PPE/C multimorbidity. RESULTS: A total of 3090 procedures (2861 patients) were included (median age, 228 days). There were 202 PPE/C (incidence of 6.5%), occurring at a median of 6 days postoperatively (IQR: 3-10). PPE/C was associated with excess early mortality only when complicating scenarios where at least two other post-operative morbidities occurred. On average PPE/C is associated with 8 more HLoS days, but the relative impact is greatest when comparing isolated PPE/C with no morbidity (p < 0.001), whereas in multimorbidity scenarios, PPE/C does not significantly contribute to an increase of HLoS. CONCLUSIONS: Addition of PPE/C increases mortality but not HLoS in multimorbidity and HLoS only in single morbidity scenarios. This reinforces the important role of prevention, early detection and management of PPE/C in complex situations.

Trends in Gaps of Care for Patients With Congenital Heart Disease: Implications for Social Determinants of Health and Child Opportunity Index.

BACKGROUND: Lifelong continuity of care is essential for patients with congenital heart disease (CHD) to maximize health outcomes; unfortunately, gaps in care (GIC) are common. Trends in GIC and of social determinants of health factors contributing to GIC are poorly understood. METHODS AND RESULTS: This retrospective cohort study included patients with CHD, aged 0 to 34 years, who underwent surgery between January 2003 and May 2020, followed up at a pediatric subspeciality hospital. Patients were categorized as having simple, moderate, and complex CHD based on 2018 American Heart Association and American College of Cardiology guidelines. Social determinants of health, such as race, ethnicity, language, insurance status, and Child Opportunity Index, based on home address zip code, were analyzed. Of 2012 patients with CHD, a GIC of ≥3 years was identified in 56% (n=1119). The proportion of patients with GIC per year increased by 0.51% (P<0.001). Multivariable longitudinal models showed that the odds of GIC were higher for patients who were ≥10.5 years old, had simple CHD, lived out of state, lived farther from care site, received public insurance, had less protection with additional insurance plans, and with low Child Opportunity Index. A separate model for patients with only moderate/complex CHD showed similar findings. Race and ethnicity were not associated with the odds of experiencing GIC over time. CONCLUSIONS: GIC have increased over time for patients with CHD. Social determinants of health, like insurance, access, and neighborhood opportunity, are key risk factors for increasing GIC. Efforts to reduce GIC in patients with CHD should focus on addressing the impact of specific social determinants of health.

Surgical repair of "Swiss Cheese" ventricular septal defects with two-patch and right ventricular apex-exclusion technique: mid-term follow-up results.

BACKGROUND: "Swiss Cheese" ventricular septal defects represent a serious congenital heart disease with suboptimal clinical outcomes and a lack of consensus regarding its management. This study presents mid-term follow-up results of surgical repairs for "Swiss Cheese" ventricular septal defects, utilizing the two-patch and right ventricle apex-exclusion technique. METHODS: A retrospective review was conducted on 13 patients who underwent surgical repair utilizing the two-patch and right ventricle apex-exclusion technique at our institution between May 2014 and October 2021. The procedure involved the closure of defects in the outflow tract ventricular septal and the apex trabecular ventricular septal regions using two patches, with concurrent exclusion of the right ventricular apex from the right ventricular inflow tract. RESULTS: Median follow-up was 4.9 ± 2.1 years (range: 2-9 years). All cases were successful without mortality or major complications. Two years post-surgery, cardiac magnetic resonance revealed median values for left ventricular ejection fraction, right ventricular ejection fraction, left ventricular end-diastolic volume and right ventricular end-diastolic volume of 63.9% ± 1.8% (range: 61-67%), 49.2% ± 2.6% (range: 46-55%), 39.15 ± 2.11 ml (range: 36.2-42.7 ml), 44.55 ± 3.33 ml (range: 38.7-48.6 ml), respectively. No thrombosis occurred. The latest echocardiography results confirmed normal cardiac function in all cases. CONCLUSIONS: The surgical repair of "Swiss Cheese" ventricular septal defects utilizing the two-patch and right ventricle apex-exclusion technique is a viable approach with favorable mid-term outcomes. More cases and long-term follow-up results are needed to validate the feasibility and safety of this technique.

Initial Balloon Versus Surgical Valvuloplasty In Children With Isolated Congenital Aortic Stenosis: Impact On Timing Of Aortic Valve Replacement.

OBJECTIVE: To evaluate the influence of initial intervention on the long-term outcomes in congenital aortic stenosis. METHODS: 243 children underwent initial intervention between 1997 and 2022, by surgical valvuloplasty in 92 (32% neonates, 36% infants) and balloon valvuloplasty in 151 (27% neonates, 30% infants). 28 patients (11.5%) had associated mitral valve stenosis. Competing risk analysis for death, alive after initial intervention or alive after AVR was performed and factors affecting survival or AVR examined. RESULTS: There were nine early deaths (3.7%). During a median follow-up of 13.5 years (Range: 1.5-26.7years), 98 patients had re-intervention on the aortic valve (40.3%), while 145 had AVR (59.6%) at a median age of 14.0 years (IQR: 9.0-17.0), which was by Ross procedure in 130 (89.6%). Of the 12 late deaths, 3 were peri-operative and 9 occurred as outpatients. There were no peri-operative or late deaths after AVR. AVR occurred earlier in patients who had initial balloon [12.0 years (IQR: 5.0-14.5)] rather than surgical [18.5 years (IQR: 15.5-21.5)] valvuloplasty (P<.05). Actuarial survival in the cohort was 91.3% at 25 years, with no difference between the two initial interventions. Critical aortic stenosis, mitral stenosis and initial intervention as a neonate were independent risk factors for worse survival. CONCLUSIONS: We demonstrate excellent early and late survival in patients with congenital aortic stenosis after initial balloon or surgical valvuloplasty. Whilst children who had balloon valvuloplasty had AVR earlier than those who had initial surgical valvuloplasty, patient factors had a greater impact on survival than choice of initial intervention.

Clinical Care Trajectory Assessment of Children With Congenital Diaphragmatic Hernia and Neurodevelopmental Impairment.

BACKGROUND: Interdisciplinary long-term health surveillance identifies opportunities to mitigate CDH-related multisystem morbidity, particularly in patients with neurodevelopmental impairment (NDI). However, no studies to date have assessed the impact of these morbidities on the patient/family. Our aim was to describe the clinical trajectory of patients with CDH and NDI (CDH-NDI), and to explore the lived experience and satisfaction of families with existing support resources. METHODS: A multi-phase explanatory study (REB 2023-8964) was conducted. Phase 1: Review of clinical data for CDH-NDI patients attending a longitudinal follow-up clinic; Phase 2: Satisfaction assessment of CDH-NDI families with existing hospital resources. Standard statistical analyses were performed for Phases 1 and 2, respectively. RESULTS: Of 91 patients included, 27 had NDI, stratified into mild (n = 2), moderate (n = 7), and severe (n = 18) cohorts. Ventilation (16 vs. 8; p < 0.001), ICU (34 vs. 18; p < 0.001) and hospital (41 vs. 22; p < 0.001) days were significantly longer in the severe cohort. The severe cohort required significantly more unscheduled visits, particularly in the first four years of life (p < 0.05). Despite high family satisfaction with existing resources, team communication during ICU-ward transfers could be improved. Parents also desired to share experiences with other CDH families. CONCLUSION: CDH children with NDI require increased support, particularly in the first four years of life. While clinic satisfaction is high, improvement of team communication and access to support resources remain high priorities for parents. LEVEL OF EVIDENCE: Level II (prospectively collected data, retrospective analysis).

Utility of the oxygenation index in management of congenital diaphragmatic hernia: a report from a Thai University Surgical Centre.

BACKGROUND: Oxygenation index (OI) is associated with severity of newborn pulmonary hypertension (PH) in congenital diaphragmatic hernia (CDH). Higher OI may indicate worst degree(s) of PH. OBJECTIVES: This study reports OI dynamic(s) over the first 72 h of life and its correlation with (1) perioperative morbidity and (2) CDH mortality. METHODS: Medical records of inborn CDH babies during 2002-2022 were examined. OI on Days (s) 1-3 and perioperative OI trends were recorded. Operation (primary vs patch repair) and survival rates (%) were studied. RESULTS: Fifty-five CDH newborns (54.5% male: 45.5% female)-mean birth GA 37.5 ± 2.7 wks. had a mean birth weight 2813 ± 684 g with prenatal diagnosis in 32.7% cases. 52/55 (94.5%) were intubated at birth and HFOV deployed in 29 (55.8%). Those requiring HFOV had higher OI on DOL1 (24.8 ± 17 vs 10.3 ± 11.5; p < 0.05), DOL 2 (26.3 ± 22.9 vs 6.7 ± 12.1; p < 0.05) and DOL 3 (21.9 ± 33.8 vs 5.5 ± 9.3; p = 0.04). Operation was undertaken in 36/55 (65.5%). Preoperative mortality group had significant higher OI on DOL 2 (42.1 ± 21.0 vs 14.9 ± 9.3; p = 0.04). CDH defects were-Type A N = 27 (75%), Type B N = 7 (19.4%) and Type C N = 2 (5.6%). Overall mortality was 40% (22/55). Statistically significant OI trends were recorded in non-survival vs. survival groups on DOL 1 (31.6 ± 16.8. vs 10.5 ± 9.0; p < 0.05, DOL 2 (38.1 ± 21.9 vs 6.3 ± 7.1; p < 0.05), and DOL 3 (38.8 ± 39.4; p = 0.012). CONCLUSIONS: OI dynamics are highly predictive for accurate monitoring of CDH cardiorespiratory physiology and crucially may guide ventilatory management as well as timing of surgery.