Search Results (100)

Objective: The aim of this study was to describe the presenting characteristics and outcomes of neonates with respiratory failure referred for extracorporeal membrane oxygenation (ECMO) support, compare those who received ECMO support (ECMO group) to those who did not (non-ECMO group), and evaluate the predictive variables requiring ECMO support. Methods: All neonates (<15 days) with respiratory failure (without congenital diaphragmatic hernia or congenital heart disease) referred to our regional ECMO center from 2014 to 2023 were included in this retrospective study. Patient demographics, birth history, and clinical and outcome variables were analyzed. Oxygenation indices and vasoactive–inotropic scores obtained at PICU arrival and four hours after arrival were compared between the two groups using ROC analysis, with ECMO initiation as an outcome variable. Youden’s index was used for optimal threshold values. Chi-square, Mann–Whitney U, and binary logistic regression were used for comparative analyses. Results: Out of the 147 neonates, 96 (65%) required ECMO support. The two groups significantly differed in the prevalence of pulmonary hypertension (pHTN; systemic or suprasystemic pulmonary pressures), lactate level, and oxygenation indices. Mortality was not different between the two groups. Presence of oxygen saturation index (OSI) ≥ 10 had a sensitivity 96.8% in predicting the need for ECMO support. On regression analysis, OSI and pHTN were independent predictors of ECMO support. Conclusions: Oxygenation indices and echo findings predict the need for ECMO support in neonatal hypoxemic respiratory failure. These findings help non-ECMO centers make appropriate and timely transfers of neonates with respiratory failure to ECMO centers. Full article

Spina Bifida (SB) and Congenital Diaphragmatic Hernia (CDH) are complex congenital anomalies that pose significant challenges in pediatric healthcare. This review synthesizes recent advancements in understanding the genetic, metabolic, and environmental factors contributing to these conditions, with the aim of integrating mechanistic insights into therapeutic innovations. In SB, key findings highlight the roles of KCND3, a critical regulator of spinal cord development, and VANGL2, essential for planar cell polarity and neural tube closure. MicroRNAs such as miR-765 and miR-142-3p are identified as key regulators of these genes, influencing neural development. Additionally, telomere shortening—a marker of cellular senescence—alongside disruptions in folate metabolism and maternal nutritional deficiencies, significantly increases the risk of SB. These findings underscore the crucial role of telomere integrity in maintaining neural tissue homeostasis during embryonic development. For CDH, genetic deletions, including those on chromosome 15q26, and chromosomal abnormalities have been shown to disrupt lung and vascular development, profoundly impacting neonatal outcomes. MicroRNAs miR-379-5p and miR-889-3p are implicated in targeting essential genes such as IGF1 and FGFR2, which play pivotal roles in pulmonary function. Promising emerging therapies, including degradable tracheal plugs and fibroblast growth factor-based treatments, offer potential strategies for mitigating pulmonary hypoplasia and improving clinical outcomes. This review underscores the intricate interplay of genetic, metabolic, and environmental pathways in SB and CDH, identifying critical molecular targets for diagnostics and therapeutic intervention. By integrating findings from genetic profiling, in vitro models, and clinical studies, it aims to inform future research directions and optimize patient outcomes through collaborative, multidisciplinary approaches. Full article

Fetal surgery has emerged as a viable option for the management of selected congenital anomalies that result in severe or lethal outcomes if left untreated until birth. Conditions such as spina bifida, urinary tract obstruction, congenital cystic adenomatoid malformation, diaphragmatic hernia, sacrococcygeal teratoma, and twin–twin transfusion syndrome have shown improved prognosis after in utero intervention, open, or fetoscopically. Despite significant advances in surgical methods and anesthesia, preterm labor remains a primary concern. Stem cell transplantation and in utero gene therapy are developing, and they have the potential to expand the treatment window, as they minimize maternal complications. Hematopoietic stem cell transplantation, which is based on the immaturity of the fetal immune system, is a promising treatment for inherited disorders. Although many procedures of fetal interventions are now established, their safety and efficacy must be ensured and this requires optimal patient selection and choice of appropriate timing for intervention, adherence to ethical principles, and continuous research. Therefore, a multidisciplinary team, including specialists in maternal–fetal medicine, pediatric surgery, anesthesiology, neonatology, psychosocial support, and bioethics, is essential to guide comprehensive, patient-centered care. Fetal surgery is an evolving field that offers hope for conditions previously considered untreatable before birth. Full article

Adult Bochdalek hernias represent a rare clinical entity that often presents diagnostic challenges due to their non-specific symptomatology. We report the case of a 42-year-old male who presented with acute abdominal pain and was found to have a left-sided Bochdalek hernia with strangulated small bowel. The patient underwent a successful laparoscopic repair using right lateral decubitus positioning, which facilitated optimal access to the diaphragmatic defect. The herniated bowel was reduced and found to be viable, and the defect was closed primarily with mesh reinforcement. This case highlights the importance of maintaining a high index of suspicion for diaphragmatic hernias in adults with vague abdominal and respiratory symptoms, the value of prompt imaging in establishing the diagnosis, and the efficacy of minimally invasive surgical techniques with innovative patient positioning for definitive management. The patient recovered well, with complete resolution of symptoms and no recurrence at the 4-year follow-up. Full article

Congenital diaphragmatic hernia (CDH) is a complex disorder whereby improper formation of the diaphragm allows herniation of the internal organs into the thoracic cavity, resulting in pulmonary hypoplasia among other complications. Although epithelial dysfunction is central to CDH pathology, relatively little attention has been paid to the underlying mechanisms orchestrating epithelial malfunction. Proinflammatory signaling downstream of impaired mechanotransduction due to in utero lung compression has been elucidated to drive epithelial cell phenotypes. This has been illustrated by a reduction in nuclear YAP and the upregulation of NF-kB in CDH models. In this review, we draw from recent findings using emerging technologies to examine epithelial cell mechanisms in CDH and discuss the role of compression as a central and, crucially, sufficient driver of CDH phenotypes. In recognition of the limitations of using genetic knockout models to recapitulate such a heterogenic and etiologically complicated disease, we discuss alternative models such as the established nitrofen rat model, air–liquid interface (ALI) cultures, organoids and ex vivo lung explants. Throughout, we acknowledge the importance of involving mechanical compression in the modeling of CDH in order to faithfully recapitulate the disease. Finally, we explore novel therapeutic strategies from stem cell and regenerative therapies to precision medicine and the importance of defining CDH endotypes in order to guide treatments. Full article

Congenital diaphragmatic hernia (CDH) remains associated with high morbidity and mortality, primarily due to pulmonary hypoplasia and hypertension. Current antenatal diagnostic methods, such as ultrasound and magnetic resonance imaging (MRI), are unable to assess the severity of defects in lung and pulmonary vascular structures, which are critical determinants of the diverse phenotypes of CDH. Aberrant epigenetic regulation of lung development during gestation is believed to play a significant role in the pathogenesis of CDH. In this study, we aimed to identify miRNA patterns in amniotic fluid capable of categorizing CDH-fetuses for the personalized selection of effective treatment strategies at the antenatal and/or postnatal stages. Using deep sequencing and quantitative real-time polymerase chain reaction (PCR), we identified a set of miRNAs—miR-485-3p, miR-320b, miR-320a-3p, miR-221-3p, miR-200b-3p, miR-100-5p, miR-92a-3p, miR-30c-5p, miR-26a-5p, and let-7c-5p—whose reduced expression in amniotic fluid at 19–24 weeks of gestation allowed us to categorize fetuses with CDH into two distinct groups: one significantly different from the control group (non-CDH) and the other closely resembling it. Notably, no significant correlations were found between the content of these miRNAs in amniotic fluid and severity of lung hypoplasia assessed by ultrasound or MRI. However, there was significant positive correlation between the level of each of the miRNAs with that of miR-200b-3p, whose role in ensuring proper bronchopulmonary tissue structure during prenatal development—as well as its therapeutic potential for CDH-associated hypoplastic lungs—has been previously demonstrated. These findings lay the groundwork for the future development of genetically engineered drug formulations designed for antenatal endotracheal administration to correct abnormal miRNA levels in lung tissue and mitigate the progression of pulmonary hypoplasia and hypertension in CDH-fetuses. Full article

Background and Clinical Significance: In recent years, the catheter ablation of cardiac arrhythmias has significantly reduced the incidence of sudden cardiac deaths and the need for chronic antiarrhythmic therapy. Endocardial ablation of ventricular arrhythmias is less common than atrial ablation and is technically more challenging. There are few documented extracardiac complications for ventricular ablation, and there is no report of diaphragmatic laceration. Case Presentation: We report a case of acute diaphragmatic laceration following endovascular ventricular ablation resulting in the strangulation of the gastric fundus in a patient who experienced previous transcutaneous ventricular ablation two years before. The patient underwent exploratory laparoscopy, revealing a diaphragmatic laceration with incarceration of the gastric fundus. Resection of the gastric fundus, showing acute ischemic damage, and closure of the diaphragmatic defect near the right ventricle with sutures were required. No complications were observed in the postoperative course. Conclusions: Although diaphragmatic injury is extremely rare, it should be considered among the complications associated with ventricular ablation. Full article

Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomotor delays, ear anomalies, brachydactyly, in addition to small hands and feet, and rarely a congenital diaphragmatic hernia (CDH). Case presentation: Here, we report on a neonate with CDH, dysmorphic features, and multiple midline anomalies including a cleft palate, in whom an array-comparative genomic hybridization (a-CGH) analysis allowed the identification of an interstitial deletion of the long arm of chromosome 1. Our patient underwent a surgical correction of CDH on the fourth day of life, while that of cleft palate has been planned to be performed at 12 months. Conclusions: The few subjects suffering such rearrangement reported to date, along with the clinical and genetic profile of the present newborn, show that 1q deletions should be considered within the context of the “interstitial 1q deletion syndrome”. Comparing our case with those described in previous studies, the involved genomic regions and the phenotypic traits are partially overlapping, although the clinical picture of the present patient is among the few ones including a congenital diaphragmatic hernia within the phenotypical spectrum. A more extensive comparative analysis of a larger number of patients with similar genetic profiles may allow for a more precise clinical and genomic characterization of this rare syndrome, and for genotype–phenotype correlations. Full article

Neonates with congenital conditions which require surgical management frequently experience respiratory distress. This review discusses the management of pulmonary complications and the respiratory support strategies for four conditions: oesophageal atresia-tracheoesophageal fistula (OA-TOF), congenital diaphragmatic hernia (CDH), congenital lung malformations (CLM), and anterior abdominal wall defects (AWD). Mechanical ventilation techniques which can reduce the risk of ventilator-induced lung injury (VILI) are discussed, as well as the use of non-invasive respiratory support modes. While advances in perioperative respiratory support have improved outcomes in infants with OA-TOF, managing respiratory distress in premature OA-TOF neonates remains a challenge. In CDH infants, a randomised trial has suggested that conventional ventilation may improve outcomes compared to high-frequency ventilation. Echocardiographic assessment is essential in the management of CDH infants with pulmonary hypertension. Lung-protective ventilation settings may lower the rate of postoperative complications in symptomatic CLM infants, but there remains debate regarding the choice of expectant versus surgical management in neonates with asymptomatic CLMs. Infants with AWDs can require ventilation due to pulmonary hypoplasia, but the effects of this on their long-term respiratory health are poorly understood. As surgical techniques continue to evolve and novel ventilation techniques become available, prospective multi-centre studies will be required to define the optimal respiratory support strategies for neonatal surgical conditions that affect lung function. Full article

Congenital diaphragmatic hernia (CDH) is a relatively rare and severe developmental disease. Even with the most recent multidisciplinary therapies, the risk for neonatal mortality and morbidity remains high. Recent advancements in prenatal treatments, alongside experimental and clinical data, suggest that fetoscopic endoluminal tracheal occlusion (FETO) promotes lung development and offers a promising strategy against lung hypoplasia and pulmonary hypertension. It is the only existing direct mechanical therapy that intervenes in the regulation of pulmonary pressure. Its influence on lung development also interferes with tissue homeostasis and cell differentiation; it also enhances inflammation and apoptosis. Its physiopathology on cellular and molecular levels is still poorly understood. Unfortunately, the procedure also carries significant pregnancy-, maternal-, and fetus-related risks. Assessing a multifaceted intervention requires a collective view of all aspects. This scoping review uncovers potential materno-fetal procedure-related risks and highlights innovative solutions. Future research on lung development therapies in CDH may focus on the “dual hit” mechanism, combining molecular-targeting drugs and regenerative medicine with the mechanical nature of FETO for synergistic effects. Full article

Diaphragm ultrasound makes it possible to diagnose diaphragmatic atrophy and dysfunction. Important indications include unclear dyspnea; diaphragmatic elevation; assessment of diaphragm dysfunction in pulmonary, neuromuscular and neurovascular diseases; and in critically ill patients before noninvasive and mechanical ventilation and follow-up of diaphragm thickness and function during mechanical ventilation with potential prediction of prolonged weaning. In patients with respiratory insufficiency and potential diaphragm dysfunction, it is possible to objectify the contribution of diaphragm dysfunction. In addition, assessment of diaphragmatic hernias, tumors and diaphragmatic dysfunction in COVID-19 and diaphragmatic ultrasound in sports medicine have been described. This narrative review includes the sonomorphology of the diaphragm, standardization of ultrasonographic investigation with transducer positions and ultrasound techniques, normal findings and diagnostic criteria for pathological findings. The correct sonographic measurement, calculation and evaluation can ultimately influence further therapeutic procedures for the patient suffering from diaphragm dysfunction in various diseases. Full article

Background: Congenital diaphragmatic hernia (CDH) is a complex congenital disorder often accompanied by long-term feeding difficulties. There is a paucity of published data regarding the impact of swallowing difficulties on long-term patient outcomes. Our study attempts to evaluate this phenomenon. Methods: A retrospective chart review of infants born with CDH between 2021 and 2022 identified 45 patients. The following variables were identified: need for swallow study, stomach location, defect type, need for anti-reflux therapy, need for nasogastric tube (NG) or gastric tube (GT) at time of discharge, poor growth, and frequency of respiratory infections during the first 12 months of life. Results: Thirty-one percent of patients (n = 14) underwent a swallow study, 20% (n = 9) required long-term anti-reflux medications, 18% (n = 8) had a GT and 59% (n = 26) had an NG in place at time of discharge, 44% (n = 17) experienced poor growth as an outpatient, and 35% (n = 16) had respiratory infections in the first 12 months of life requiring hospitalization. Infants with a Type D defect commonly required GT at discharge (40%), experienced respiratory infections in the first 12 months (67%), and had poor growth as an outpatient (67%). Conclusions: Our findings underscore the need for routine dysphagia screening in CDH infants during NICU admission. Differences in outcomes based on defect type suggest that early identification and targeted interventions for feeding and swallowing issues may improve long-term growth and respiratory outcomes for CDH patients. Further studies are warranted to develop standardized dysphagia management guidelines for this population. Full article

Objective: This study aims to evaluate long-term physical and motor performance in children aged 3–6 years following congenital diaphragmatic hernia (CDH) surgery, in comparison with healthy peers. While existing research emphasizes prognostic factors such as the lung to heart ratio (LHR) and liver position, few studies address physical outcomes in early childhood post-surgery. Methods: A total of 31 children who underwent neonatal CDH surgery (study group) and 41 age-matched healthy children (reference group) were assessed. The Wrocław Test and the Ozierecki Metric Scale (modified by Barański) were used to evaluate strength, endurance, motor coordination, and agility. Results: Findings indicated that children in the CDH group had significantly lower scores in physical performance, particularly in endurance and motor coordination, compared to their healthy peers. Strength differences were present but less pronounced. Conclusions: Children post-CDH surgery exhibit slightly delayed physical and motor development, suggesting a potential need for targeted physical activity programs in early childhood to support improved outcomes. Full article

Purpose of review: Congenital diaphragmatic hernia (CDH) remains a significant challenge, particularly in severe cases with persistent pulmonary hypertension (PPHN) and hypoplastic lungs and heart. For patients unresponsive to conventional therapies, ECMO is required. While the surgical repair is relatively simple, determining the optimal timing for surgery in patients requiring ECMO is particularly challenging. This review explores the dilemma of surgical timing and proposes a two-staged approach: a reduction in herniated organs and the creation of a silo to relieve abdominal pressure before initiating ECMO, with defect closure following ECMO decannulation. Recent Findings: Studies support pre-, on-, and post-ECMO repair, each with its own risks and benefits. Pre-ECMO repair may enhance ECMO efficacy by relieving organ compression but poses risks due to instability. Post-ECMO repair is safer but may result in losing the chance to repair. On-ECMO repair has significant hemorrhage risks, but early repair with careful anticoagulation management is currently recommended. Recently, the author reported a successful case using a two-staged approach—reducing herniated organs and creating a silo before ECMO, followed by defect closure after ECMO decannulation—which suggests a potential alternative strategy for managing severe CDH. Summary: A two-staged approach may offer a solution for severe CDH patients requiring ECMO. Full article

Wandering spleen (WS) is a rare condition often linked with torsion or infarction, but its association with Bochdalek hernia, acute appendicitis, and thrombocytopenia is exceptionally rare. We present a case of a nine-year-old girl who was admitted with acute abdominal pain, later diagnosed with WS, Bochdalek hernia, and acute appendicitis. A literature search was performed on PubMed and Google Scholar on 30 May 2024 with keywords including “Wandering spleen” and (“Bochdalek Hernia” OR “Sepsis” OR “Acute Appendicitis” OR “Thrombocytopenia”). The management was complicated by severe thrombocytopenia and post-operative sepsis, with Klebsiella pneumoniae as the causative agent. Imaging revealed an abnormally located spleen and significant splenic enlargement over time. The patient’s condition was managed non-operatively concerning the WS, avoiding splenectomy due to the risks of post-splenectomy sepsis. Instead, laparotomy was performed to address the appendicitis and diaphragmatic hernia. The patient experienced post-operative complications, including a seizure and persistent fever, which resolved with appropriate antibiotic therapy. This case underscores the complexity of managing WS with concurrent severe conditions, highlighting the importance of individualised treatment strategies. It also emphasises the need for further studies to explore optimal treatment modalities for such rare and complex presentations. This case serves as an educational example in clinical settings, demonstrating the challenges and considerations when treating multiple rare pathologies simultaneously. Full article