Search

Introduction: Congenital diaphragmatic hernia (CDH) in the preterm population is increasingly common in the current era of fetal endoluminal tracheal occlusion (FETO) therapy. There remains a lack of clinical guidance for clinicians and surgeons regarding optimal management strategies for such infants. We aimed to describe our experience in managing preterm CDH in a single quaternary neonatal intensive care unit (NICU). Methods: This was a retrospective single-center observational case series of preterm infants born between 2017 and 2024 at less than 37 weeks of gestation and diagnosed with CDH (pre- or post-natally). Results: Thirty-two infants with a median (range) gestational age of 33.9 (27.0–36.9) weeks and a birth weight of 1975 (1070–3290) grams. Twenty-two infants (68.8%) were diagnosed with CDH prenatally and 43.8% underwent antenatal FETO. The median time of surgical repair was at 10 (2–47) days of life. The duration of invasive mechanical ventilation was 11 (1–115) days. Nineteen infants (59.4%) survived to discharge with a median postmenstrual age at time of discharge of 40.6 (36.0–51.0) weeks. Two infants developed a grade 3 or 4 intraventricular hemorrhage. Five infants required home oxygen at discharge. Conclusion: Preterm CDH confers high morbidity and mortality. Robust clinical evidence, multicenter studies and standardized guidelines are needed to improve outcomes in this challenging patient population. [ABSTRACT FROM AUTHOR]

Hypogenetic lung syndrome, commonly known as Scimitar syndrome, is a rare cardiopulmonary anomaly characterized primarily by anomalous pulmonary venous return and lung hypoplasia. While it is most frequently diagnosed in infancy or early childhood, cases in adulthood are exceedingly rare. We present a case of a middle-aged female who was diagnosed with Scimitar syndrome.

The omphalocele is an abdominal wall defect at the base of the umbilical cord, with the worldwide prevalence of 2.6 per 10,000 births. Omphalocele contains herniated abdominal organs and is classified in small and giant based on the size of the defect. Omphalocele is associated with several syndromes or structural anomalies. We reported a case of giant omphalocele of 6 cm with right lung agenesis with tracheal and right bronchial hypoplasia. Laryngeal mask stabilized the newborn allowing endotracheal intubation. Due to serious malformations, the newborn died after few hours of life for cardio-respiratory arrest. Early and accurate prenatal diagnosis allows a better intervention strategies in delivery room, improving the chances of survival and reducing complications for infants with omphalocele.

Introduction: Pulmonary agenesis is a rare lung disease, occurring in approximately 1 out of every 100,000 births. Most cases of pulmonary agenesis result in death during the neonatal period. Although survival in cases of pulmonary agenesis is rare, it is possible to encounter lung agenesis in adults. Case: A 26-year-old female patient presented with progressive dyspnea. On physical examination, retraction of the breathing muscles, reduced chest excursions, and decreased breath sounds on the right side were observed. A chest X-ray raised suspicion of pulmonary agenesis. A computed tomography (CT) scan showed hypoplasia of the right lung, accompanied by mediastinal shift, hyperinflation of the left lung, and retraction of the diaphragm and liver to the right. Spirometry showed moderate obstruction. Conclusion: Pulmonary agenesis in adult patients is extremely rare. Chest X-rays and CT scans are the main diagnostic modalities for pulmonary agenesis. There is no specific treatment for asymptomatic cases. Management focuses on conservative and symptomatic care.

Copyright of Saudi Medical Journal is the property of Saudi Medical Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A 2-year-old castrated Russian Blue cat presented with inappetence, depression, and labored respirations. Radiography findings suggested left lung atelectasis; however, the ultrasonography findings did not indicate lung atelectasis. The left pulmonary artery (PA) was abnormally small on echocardiography; further, there were no other cardiac anomalies. Computed tomography revealed an abnormally small left PA and left lung. Furthermore, bronchiectasis and tree-in-bud patterns were observed in the lung lobes. Based on these findings, the cat was diagnosed with isolated left PA hypoplasia, presumed left lung hypoplasia, and feline chronic bronchial disease. Early diagnosis of this disease is important because it can cause serious complications, including recurrent respiratory infection, bronchiectasis, massive hemoptysis, and pulmonary hypertension. [ABSTRACT FROM AUTHOR]

Copyright of Die Radiologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

IntroductionInfants with congenital diaphragmatic hernia can suffer severe respiratory insufficiency and pulmonary hypertension after birth. Aerating the lungs before removing placental support (physiologically based cord clamping, PBCC) increases pulmonary blood flow (PBF) and reduces pulmonary vascular resistance (PVR) in lambs with a diaphragmatic hernia (DH). We hypothesized that these benefits of PBCC persist for at least 8 h after birth.MethodsAt ∼138 days of gestation age (dGA), 21 lambs with a surgically induced left-sided DH (∼86 dGA) were delivered via cesarean section. The umbilical cord was clamped either before ventilation onset (immediate cord clamping, ICC, n = 9) or after achieving a tidal volume of 4 ml/kg, with a maximum delay of 10 min (PBCC, n = 12). The lambs were ventilated for 8 h, initially with conventional mechanical ventilation, but were switched to high-frequency oscillatory ventilation after 30 min if required. Ventilatory parameters, cardiopulmonary physiology, and arterial blood gases were measured throughout the study.ResultsPBF increased after ventilation onset in both groups and was higher in the PBCC DH lambs than the ICC DH lambs at 8 h (5.2 ± 1.2 vs. 1.9 ± 0.3 ml/min/g; p

A small number of controlled studies have been conducted using high-frequency mechanical lung ventilation (HFMLV) in the treatment process. In the literature, complications associated with the use of HFMLV, in particular, the development of air leak syndrome, are described. This technique is usually successfully used in the treatment of homogeneous and symmetrical lung tissue lesions. Every year, the number of congenital malformations in children that can be accompanied by inhomogeneous lesions of the lungs increases, accordingly, the number of clinical cases that do not correspond to the classic picture of the disease increases, so they cannot be treated according to unified clinical protocols. The objective of the article is to help choose optimal modes of mechanical lung ventilation in non-standard situations, which will make it possible to improve the course of the disease, reduce the number of complications and prevent hypoxic-ischemic damage to the central nervous system as a consequence of chronic or acute hypoxia, which is combined with the phenomena of secondary ischemia. A baby was hospitalized in the department of the National Children’s Specialized Hospital «Ohmatdyt» with the main diagnosis of «hypoplasia, dysplasia of the lung» and concomitant «broncho-pulmonary dysplasia that occurred in the perinatal period. The ductus arteriosus is open. Pulmonary hypertension? Anemia. Seizure syndrome. Primary immunodeficiency? Complication: respiratory failure 3, mixed type». After surgical intervention in the scope of an atypical lobectomy, the child was ventilated using strict parameters of mechanical lung ventilation, which was accompanied by a gradual deterioration of the general condition and the condition of the lungs, caused not only by a congenital malformation of the lungs, but also by immunodeficiency (of unknown etiology), anemia, convulsive syndrome and the presence polyresistant strains of bacteria in bacterial cultures of sputum. Against the background of surgical (mechanical) trauma to the lung tissue and the presence of a bacterial disease of the lung parenchyma with a concomitant complication in the form of a tension pneumothorax, HFMLV was used as a «therapy of despair», despite the limited amount of scientific data on the effectiveness of treatment of inhomogeneous lung tissue lesions using HFMLV. During the treatment, a complication in the form of pneumothorax occurred as expected. The use of constant adequate monitoring of respiratory functions and timely elimination of complications made it possible to stabilize the child’s condition: the need for oxygen decreased, the condition of the lung parenchyma improved, the positive dynamics of the disease made it possible to carry out gradual weaning from artificial lung ventilation and the transition to spontaneous effective breathing with minimal oxygen support. Therefore, HFMLV can be not only a «therapy of despair». With proper and timely use, it can help reduce the frequency of complications associated with mechanical ventilation of the lungs.It can also be used as a separate technique, if the dynamics of the disease can be predicted, provided that the hospital has expert class respiratory function monitoring and experienced specialists.

Horseshoe lung (HL) is a rare congenital anomaly represented by the fusion of both lungs, posterior to the heart, and is typically associated with various bronchopulmonary and cardiovascular malformations. Multi-detector contrast enhanced CT is the imaging modality of choice to demonstrate the pathology and associated malformations. There has been inconsistency in the nomenclature used for such cases in literature. To resolve ambiguity, the authors emphasise that only two terms: HL and pseudo-HL be used on imaging to describe variants of this congenital malformation. Contribution: A description of the imaging features in four cases of HL, with their associated malformations and a review of the nomenclature.

Horseshoe lung (HL) is a rare congenital anomaly represented by the fusion of both lungs, posterior to the heart, and is typically associated with various bronchopulmonary and cardiovascular malformations. Multi-detector contrast enhanced CT is the imaging modality of choice to demonstrate the pathology and associated malformations. There has been inconsistency in the nomenclature used for such cases in literature. To resolve ambiguity, the authors emphasise that only two terms: HL and pseudo-HL be used on imaging to describe variants of this congenital malformation. Contribution: A description of the imaging features in four cases of HL, with their associated malformations and a review of the nomenclature. [ABSTRACT FROM AUTHOR]

Abnormal lung development is the main cause of morbidity and mortality in neonates with congenital diaphragmatic hernia (CDH), a common birth defect (1:2,500) of largely unknown pathobiology. Recent studies discovered that inflammatory processes, and specifically NF-κB-associated pathways, are enriched in human and experimental CDH. However, the molecular signaling of NF-κB in abnormal CDH lung development and its potential as a therapeutic target require further investigation. Using sections and hypoplastic lung explant cultures from the nitrofen rat model of CDH and human fetal CDH lungs, we demonstrate that NF-κB and its downstream transcriptional targets are hyperactive during abnormal lung formation in CDH. NF-κB activity was especially elevated in the airway epithelium of nitrofen and human CDH lungs at different developmental stages. Fetal rat lung explants had impaired pseudoglandular airway branching after exposure to nitrofen, together with increased phosphorylation and transcriptional activity of NF-κB. Dexamethasone, the broad and clinically applicable antiinflammatory NF-κB antagonist, rescued lung branching and normalized NF-κB signaling in hypoplastic lung explants. Moreover, specific NF-κB inhibition with curcumenol similarly rescued ex vivo lung hypoplasia and restored NF-κB signaling. Last, we showed that prenatal intraperitoneal dexamethasone administration to pregnant rat dams carrying fetuses with hypoplastic lungs significantly improves lung branching and normalizes NF-κB in vivo. Our results indicate that NF-κB is aberrantly activated in human and nitrofen CDH lungs. Antiinflammatory treatment with dexamethasone and/or specific NF-κB inhibition should be investigated further as a therapeutic avenue to target lung hypoplasia in CDH. [ABSTRACT FROM AUTHOR]

Objective To observe the effects of prenatal intragastric administration of tetramethylpyrazine (TMP） on lung development and Hippo signaling protein expression in fetal rats with congenital diaphragmatic hernia (CDH), and to investigate the protective effect of TMP prenatal intervention on CDH fetal rats and its mechanism. Methods SD rats were mated at night according to the ratio of male and female 2∶1, and pregnant rats were randomly divided into the control group (n=5), CDH group (n=5） and CDH + TMP group (n=5). Nitrofen (125 mg/kg） was used to induce CDH on day 9. 5 of pregnancy, and rats in the control group were given the equal volume of olive oil. TMP (80 mg/kg) was used as antenatal intervention on day 11. 5 of pregnancy (once a day, for 10 days), while the rats in the control group and the CDH group were given the same amount of distilled water. All fetuses were delivered by cesarean on day 21. 5 of pregnancy. The fetuses only with left diaphragmatic hernia in the CDH and CDH＋TMP groups were chosen for analysis, while left lung tissues of the fetuses in the control group were taken as controls. HE staining and special blood vessel staining were used to observe lung tissue morphology, radiative alveolar count (RAC), alveolar area percentage, alveolar septal thickness, vascular outer diameter, vascular media percentage, and vascular wall muscle degree in each group. The expression levels of Hippo signaling pathway-related proteins Yap, Lats1 and phosphorylated Yap (p-Yap） in the lung tissues of each group were detected by Western blotting. Results Compared with the control group, the development of lung tissue in the CDH group was significantly delayed, the alveolar, alveolar sacs and alveolar ducts appeared pseudoglandular structures, and the alveolar septum and intracacinar artery wall were thickened. Compared with the CDH group, the development of lung tissue in the CDH+TMP group was significantly improved. The percentage of alveolar area and RAC in the CDH group was lower than that in the control group, and the thickness of alveolar septum was higher than that in the control group. The percentage of alveolar area and RAC in CDH + TMP group was higher than that in CDH group, and the thickness of alveolar septum was lower than that in CDH group (P<0. 05). The percentage of vascular medium membrane in the CDH group was higher than that in control group, and the degree of non-muscular vascular wall was lower than that in the control group. The percentage of vascular media in the CDH + TMP group was lower than that in the control group, and the degree of non-muscular vascular wall was higher than that in the CDH group (all P<0. 05). The expression levels of Yap in the CDH group and CDH + TMP group were higher than that in the control group (P<0. 05). The protein expression levels of Lats1 and p-Yap in the CDH + TMP group were higher than those of the control group and CDH group (all P<0. 05). Conclusion TMP prenatal intervention can improve lung hypoplasia and promote Hippo signaling pathway protein Lats1 expression and Yap phosphorylation, which maybe play an important role in the improvement of lung hypoplasia. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this study was to evaluate prediction of neonatal mortality in fetuses with isolated left congenital diaphragmatic hernia (CDH) when the observed/expected lung-to-head ratio (O/E LHR) was estimated at two different gestational time points during pregnancy. Methods: Forty-four (44) fetuses with isolated left CDH were included. O/E LHR was estimated at the time of referral (first scan) and before delivery (last scan). The main outcome was neonatal death due to respiratory complications. Results: There were 10/44 (22.7%) perinatal deaths. The areas under (AU) the ROC curves were: first scan, 0.76, best O/E LHR cut-off 35.5% with 76% sensitivity and 70% specificity; last scan, AU-ROC 0.79, best O/E LHR cut-off 35.2%, with 79.0% sensitivity and 80% specificity. Considering an O/E LHR cut-off ≤35% to define high-risk fetuses at any examination, prediction for perinatal mortality showed: 80% sensitivity, 73.5% specificity, 47.1% positive and 92.6% negative predictive values, and 3.02 (95% CI 1.59–5.73) positive and 0.27 (95% CI 0.08–0.96) negative likelihood ratios. Prediction was similar in the two evaluations as 16/21 (76.2%) of fetuses considered at risk had an O/E LHR ≤35% in the two examinations; in the remaining 5 cases, two were identified only in the first and three only in the last scan. Conclusion: The O/E LHR is a good predictor of perinatal death in fetuses with left isolated CDH. Approximately 80% of fetuses at risk of perinatal death can be identified with an O/E LHR ≤35%, and 90% of them will have similar O/E LHR values at the first and at the last ultrasound examinations prior to delivery. In general, 88.6% of all CDH fetuses have a similar severity classification based on the O/E LHR at the first diagnostic ultrasound or at the ultrasound examination prior to delivery. [ABSTRACT FROM AUTHOR]

Rationale: Congenital diaphragmatic hernia (CDH) is characterized by incomplete closure of the diaphragm and lung hypoplasia. The pathophysiology of lung defects in CDH is poorly understood. Objectives: To establish a translational model of human airway epithelium in CDH for pathogenic investigation and therapeutic testing. Methods: We developed a robust methodology of epithelial progenitor derivation from tracheal aspirates of newborns. Basal stem cells (BSCs) from patients with CDH and preterm and term non-CDH control subjects were derived and analyzed by bulk RNA sequencing, assay for transposase accessible chromatin with sequencing, and air-liquid interface differentiation. Lung sections from fetal human CDH samples and the nitrofen rat model of CDH were subjected to histological assessment of epithelial defects. Therapeutics to restore epithelial differentiation were evaluated in human epithelial cell culture and the nitrofen rat model of CDH. Measurements and Main Results: Transcriptomic and epigenetic profiling of CDH and control BSCs reveals a proinflammatory signature that is manifested by hyperactive nuclear factor kappa B and independent of severity and hernia size. In addition, CDH BSCs exhibit defective epithelial differentiation in vitro that recapitulates epithelial phenotypes found in fetal human CDH lung samples and fetal tracheas of the nitrofen rat model of CDH. Furthermore, blockade of nuclear factor kappa B hyperactivity normalizes epithelial differentiation phenotypes of human CDH BSCs in vitro and in nitrofen rat tracheas in vivo. Conclusions: Our findings have identified an underlying proinflammatory signature and BSC differentiation defects as a potential therapeutic target for airway epithelial defects in CDH. [ABSTRACT FROM AUTHOR]

IntroductionPulmonary hypertension (PH) is one of the major contributing factors to the high morbidity and mortality in neonates with congenital diaphragmatic hernia (CDH). The severity and duration of postnatal PH are an established risk factor for patient outcome; however, the early postnatal dynamics of PH have not been investigated. This study aims to describe the early course of PH in CDH infants, and its relation to established prognostic markers and outcome measures.MethodsWe performed a monocentric retrospective review of neonates with prenatally diagnosed CDH, who received three standardized echocardiographic examinations at 2–6 h, 24, and 48 h of life. The degree of PH was graded as one of three categories: mild/no, moderate, or severe PH. The characteristics of the three groups and their course of PH over 48 h were compared using univariate and correlational analyses.ResultsOf 165 eligible CDH cases, initial PH classification was mild/no in 28%, moderate in 35%, and severe PH in 37%. The course of PH varied markedly based on the initial staging. No patient with initial no/mild PH developed severe PH, required extracorporeal membrane oxygenation (ECMO)-therapy, or died. Of cases with initial severe PH, 63% had persistent PH at 48 h, 69% required ECMO, and 54% died. Risk factors for any PH included younger gestational age, intrathoracic liver herniation, prenatal fetoscopic endoluminal tracheal occlusion (FETO)-intervention, lower lung to head ratio (LHR), and total fetal lung volume (TFLV). Patients with moderate and severe PH showed similar characteristics, except liver position at 24- (p = 0.042) and 48 h (p = 0.001), mortality (p = 0.001), and ECMO-rate (p = 0.035).DiscussionTo our knowledge, this is the first study to systematically assess the dynamics of PH in the first postnatal 48 h at three defined time points. CDH infants with initial moderate and severe PH have a high variation in postnatal PH severity over the first 48 h of life. Patients with mild/no PH have less change in PH severity, and an excellent prognosis. Patients with severe PH at any point have a significantly higher risk for ECMO and mortality. Assessing PH within 2–6 h should be a primary goal in the care for CDH neonates.

Purpose: Circular RNAs (circRNAs) are stable, non-coding RNAs with tissue- and developmental-specific expression making them suitable biomarkers for congenital anomalies. Current circRNA discovery pipelines have focused on human and mouse. We aim to bridge this gap by combining bioinformatics resources and used circtial1 as a model candidate in the nitrofen rat model of congenital diaphragmatic hernia (CDH)., Methods: Circtial1 backsplice junction sequences from a microarray were used to predict mature circRNA sequences and downstream pathways by miRNA interactions using CRAFT and circAtlas. We validated circtial1 expression using conventional PCR, amplicon sequencing, RT-Qpcr, and Basescope™ in situ hybridization., Results: Expression of parental gene tial1 was decreased in nitrofen-induced lungs at embryonic day (E)15 (p = 0.004) and E21 (p = 0.008), while at E18, there was no significant difference (p = 0.65). At E21, circtial1 expression did not differ between CDH and control lungs (p = 0.07); however, there was a decreased expression in male pups (p = 0.0167). In situ hybridization confirmed low circtial1 expression. CircRNA::miRNA::mRNA interactions revealed pathway enrichment for inflammation/infection and neuron function/development., Conclusion: For the first time, we report circRNA profiling in nitrofen-induced CDH with a sex-specific expression of circtial1. Current bioinformatics tools have significant challenges, but can guide hypothesis formation on their biological role., Competing Interests: Declarations. Conflict of interest: The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

ObjectivesIn fetuses with left-sided congenital diaphragmatic hernia (CDH), left heart structures may appear small, but usually normalize after birth in the absence of structural cardiac anomalies. To decrease the possibility of an erroneous diagnosis of structural heart disease, we identify normal values for left heart structures in the presence of left CDH and secondarily investigate the relationship of left heart size and survival to neonatal hospital discharge.MethodsLeft heart structures [mitral valve (MV) and aortic valve (AoV) annulus diameter, left ventricle (LV) length and width] were measured by fetal echocardiogram in fetuses with left CDH and no congenital heart disease. We generated linear regression models to establish the relationship of gestational age for each left heart structure using data from fetuses who survived after birth. We calculated z-scores (normalized to gestational age), and assessed the relationship of survival to the size of each structure.ResultsOne hundred forty-two fetuses underwent fetal echocardiogram (median 25 weeks' gestation, IQR 23, 27 weeks). Left heart structures were deemed small when using published normative data from unaffected fetuses (z-scores: MV −1.09 ± 1.35, AoV −2.12 ± 1.16, LV length −1.36 ± 1.24, LV width −4.79 ± 0.79). CDH-specific models derived from log-transformed values yielded left-shifted distributions, reflecting the small structures (mean z-score lower by: MV 0.99 ± 0.30, AoV 2.04 ± 0.38, LV length 1.30 ± 0.36, and LV width 4.69 ± 0.28; p

Congenital Diaphragmatic hernia (CDH) is a condition characterized by a defect in the diaphragm leading to protrusion of abdominal contents into the thoracic cavity interfering with normal development of the lungs. The defect may range from a small aperture in the posterior muscle rim to complete absence of diaphragm. The pathophysiology of CDH is a combination of lung hypoplasia and immaturity associated with persistent pulmonary hypertension of newborn (PPHN) and cardiac dysfunction. Prenatal assessment of lung to head ratio (LHR) and position of the liver by ultrasound are used to diagnose and predict outcomes. Delivery of infants with CDH is recommended close to term gestation. Immediate management at birth includes bowel decompression, avoidance of mask ventilation and endotracheal tube placement if required. The main focus of management includes gentle ventilation, hemodynamic monitoring and treatment of pulmonary hypertension followed by surgery. Although inhaled nitric oxide is not approved by FDA for the treatment of PPHN induced by CDH, it is commonly used. Extracorporeal membrane oxygenation (ECMO) is typically considered after failure of conventional medical management for infants ≥ 34 weeks' gestation or with weight >2 kg with CDH and no associated major lethal anomalies. Multiple factors such as prematurity, associated abnormalities, severity of PPHN, type of repair and need for ECMO can affect the survival of an infant with CDH. With advances in the management of CDH, the overall survival has improved and has been reported to be 70-90% in non-ECMO infants and up to 50% in infants who undergo ECMO.

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a major congenital anomaly requiring surgical intervention after birth. Due to improvements in antenatal diagnosis and perinatal management with well advanced neonatal intensive care, there are better overall survival rates in the developed countries. However, the outcome is still poor in developing countries where multiple factors contribute to higher morbidity and mortality. AIM: The aim of the study is to evaluate various factors affecting the perioperative management and their outcome in neonates with CDH. MATERIALS AND METHODS: This descriptive observational study was conducted over a period of 4 years. Neonates who underwent surgery for CDH were included. Demographic data, clinical data, gender, birth weight, period of gestation, antenatal diagnosis records, additional congenital anomalies, initial blood gases in the first 24 h of life, stomach or liver herniation in the thorax, postoperative complications, and final outcome were recorded. RESULTS: During our study period, 36 neonates underwent surgery for CDH. Associated anomalies were detected in 47.2% cases. Persistent pulmonary hypertension was seen in 44.4% cases. Sepsis (55.5%) was the most common complication. Mortality in our study was 64%. Persistent pulmonary hypertension (93.75%) was the most common factor associated with mortality followed by sepsis (80%). Antenatal diagnosis before 20 weeks had the highest mortality (85.7%). Liver or stomach as a thoracic content in diaphragmatic hernia had high mortality. CONCLUSION: Sepsis, shock, hypothermia, metabolic acidosis, and pneumonitis were the preventable factors affecting outcome in CDH. Improving pediatric surgical facilities and neonatal care can improve survival in developing countries.

Absence of arterial duct, a sixth aortic arch derivative, plays an important etiologic role in Tetralogy of Fallot with absent pulmonary valve syndrome. When fetal ductus is absent, the large right ventricular stroke volume dilates the pulmonary trunk leading to pulmonary regurgitation. A proximal extension of the embryonic insult to the entire left sixth arch causes absence of the left pulmonary artery, a common association of absent pulmonary valve syndrome. On the contrary, absence of right pulmonary artery is not reported in absent pulmonary valve syndrome. A rare combination of tetralogy, absent pulmonary valve syndrome and isolation of a hypoplastic right pulmonary artery offered challenges to diagnosis and management. [ABSTRACT FROM AUTHOR]

A 2-year-old castrated Russian Blue cat presented with inappetence, depression, and labored respirations. Radiography findings suggested left lung atelectasis; however, the ultrasonography findings did not indicate lung atelectasis. The left pulmonary artery (PA) was abnormally small on echocardiography; further, there were no other cardiac anomalies. Computed tomography revealed an abnormally small left PA and left lung. Furthermore, bronchiectasis and tree-in-bud patterns were observed in the lung lobes. Based on these findings, the cat was diagnosed with isolated left PA hypoplasia, presumed left lung hypoplasia, and feline chronic bronchial disease. Early diagnosis of this disease is important because it can cause serious complications, including recurrent respiratory infection, bronchiectasis, massive hemoptysis, and pulmonary hypertension.

IntroductionWe sought to determine the relationship between the degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH).Materials and methodsWe retrospectively reviewed neonatal medical records and antenatal sonography of fetuses with isolated left CDH cared for at a single institution (2000-2012). Fetal stomach position was classified on sonography as follows: intra-abdominal, anterior left chest, mid-to-posterior left chest, or retrocardiac (right chest).ResultsNinety fetuses were included with 70% surviving to neonatal discharge. Stomach position was intra-abdominal in 14% (n = 13), anterior left chest in 19% (n = 17), mid-to-posterior left chest in 41% (n = 37), and retrocardiac in 26% (n = 23). Increasingly abnormal stomach position was linearly associated with an increased odds of death (OR 4.8, 95% CI 2.1-10.9), extracorporeal membrane oxygenation (ECMO; OR 5.6, 95% CI 1.9-16.7), nonprimary diaphragmatic repair (OR 2.7, 95% CI 1.4-5.5), prolonged mechanical ventilation (OR 5.9, 95% CI 2.3-15.6), and prolonged respiratory support (OR 4.0, 95% CI 1.6-9.9). All fetuses with intra-abdominal stomach position survived without substantial respiratory morbidity or need for ECMO.DiscussionFetal stomach position is strongly associated with neonatal outcomes in isolated left CDH. This objective tool may allow for accurate prognostication in a variety of clinical settings.

Swyer-James syndrome (SJS) is a rare lung condition characterized by abnormal lung growth secondary to childhood post-infectious bronchiolitis obliterans. Usually, one lung is affected more than the other leading to asymmetrical lungs with one lung being significantly smaller. The disease can lead to pulmonary obstructive airflow physiology, bronchiectasis, and fibrosis. Dyspnea usually presents early on in infancy and symptoms can mimic asthma, however, they can go unnoticed until adulthood. We present a case of SJS in a patient with adult polycystic kidney disease (ADPKD) and color vision deficiency. The patient presented to our clinic for evaluation for progressively worsening dyspnea and cough. His imaging revealed a hypoplastic left lung with fibrosis, cystic airway disease, and a small left pulmonary artery. His spirometry revealed an obstructive defect. A Ventilation-Perfusion scan (V/Q) showed a significant reduction of ventilation and perfusion to his left lung confirming the diagnosis of SJS. Both conditions – SJS and ADPKD-are not pathologically or genetically related and are very rare. Having both conditions is even rarer yielding interesting radiological imaging.

Copyright of Folia Cardiologica is the property of VM Medica-VM Group (Via Medica) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We describe a premature male infant who died from complications resulting from two malformations: a large left-sided diaphragmatic hernia and a right-sided cervicothoracic neurenteric cyst. The findings of the first limited prenatal ultrasound led to the incorrect diagnosis of right-sided diaphragmatic hernia. Vertebral anomalies, commonly associated with neurenteric cysts, and an intrathoracic stomach, were not identified until autopsy examination. A literature review describes only one partly similar case relating a neurenteric cyst to the jejunum associated with an ipsilateral diaphragmatic defect identified on prenatal ultrasound. The second report of this combination raises the question of a developmental relationship. [ABSTRACT FROM AUTHOR]

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a major congenital anomaly requiring surgical intervention after birth. Due to improvements in antenatal diagnosis and perinatal management with well advanced neonatal intensive care, there are better overall survival rates in the developed countries. However, the outcome is still poor in developing countries where multiple factors contribute to higher morbidity and mortality. AIM: The aim of the study is to evaluate various factors affecting the perioperative management and their outcome in neonates with CDH. MATERIALS AND METHODS: This descriptive observational study was conducted over a period of 4 years. Neonates who underwent surgery for CDH were included. Demographic data, clinical data, gender, birth weight, period of gestation, antenatal diagnosis records, additional congenital anomalies, initial blood gases in the first 24 h of life, stomach or liver herniation in the thorax, postoperative complications, and final outcome were recorded. RESULTS: During our study period, 36 neonates underwent surgery for CDH. Associated anomalies were detected in 47.2% cases. Persistent pulmonary hypertension was seen in 44.4% cases. Sepsis (55.5%) was the most common complication. Mortality in our study was 64%. Persistent pulmonary hypertension (93.75%) was the most common factor associated with mortality followed by sepsis (80%). Antenatal diagnosis before 20 weeks had the highest mortality (85.7%). Liver or stomach as a thoracic content in diaphragmatic hernia had high mortality. CONCLUSION: Sepsis, shock, hypothermia, metabolic acidosis, and pneumonitis were the preventable factors affecting outcome in CDH. Improving pediatric surgical facilities and neonatal care can improve survival in developing countries. [ABSTRACT FROM AUTHOR]

Abstract Background Premature preterm rupture of membranes (PPROM) is reported to be associated with high rates of neonatal mortality and morbidity. Sildenafil has been used in infants with persistent pulmonary hypertension of newborn (PPHN) due to congenital diaphragmatic hernia (CDH) and bronchopulmonary dysplasia (BPD). Recently, Sildenafil has been evaluated as an alternative or adjunctive pulmonary vasodilator. This case report illustrates the use of early sildenafil for PPHN and right ventricular dysfunction in an unusual setting of lung and renal hypoplasia. Case presentation A male infant was born at 37 weeks with a birth weight of 2840 g. Rupture of membranes developed at approximately 24 weeks of gestational age (GA). Bilateral small kidneys (

Congenital diaphragmatic hernia is a rare disease with high mortality and morbidity due to pulmonary hypoplasia and pulmonary hypertension. The aim of the study is to investigate the relationship between radiographic lung area and systolic pulmonary artery pressure (sPAP) on the first day of life, mortality, and hernia recurrence during the first year of life in infants with a congenital diaphragmatic hernia (CDH). A retrospective data collection was performed on 77 CDH newborns. Echocardiographic sPAP value, deaths, and recurrence cases were recorded. Lung area was calculated by tracing the lung's perimeter, excluding mediastinal structures, and herniated organs, on the preoperative chest X-ray performed within 24 h after birth. Logistic and linear regression analyses were performed. Deceased infants showed lower areas and higher sPAP values. One square centimeter of rising in the total, ipsilateral, and contralateral area was associated with a 22, 43, and 24% reduction in mortality risk. sPAP values showed a decreasing trend after birth, with a maximum of 1.84 mmHg reduction per unitary increment in the ipsilateral area at birth. Recurrence patients showed lower areas, with recurrence risk decreasing by 14 and 29% per unit increment of the total and ipsilateral area. In CDH patients, low lung area at birth reflects impaired lung development and defect size, being associated with increased sPAP values, mortality, and recurrence risk.Clinical Trial Registration: The manuscript is an exploratory secondary analysis of the trial registered at ClinicalTrials.gov with identifier NCT04396028.

Background: There are limited data on congenital lung malformations (CLM) and their clinical course from developing countries. Methods: A 10-year retrospective chart review of records of children with CLM attending pediatric chest clinic at an Indian tertiary care center was conducted. Results: Among the 48 children (24 boys) included in the review, the malformations included congenital lung hypoplasia/agenesis in 24 (50%), cystic pulmonary airway malformation in 9 (19%), bronchogenic/foregut cyst in 8 (18%), and congenital lobar emphysema in 4 (9%). Median (IQR) age at symptom onset and diagnosis were 1.5 (0.4,9.5) and 24 (3,62) months, respectively. Median (IQR) weight for age for age z-score at presentation was −2.4 (−1.4,− 3.4). More than a third (37.5%) children underwent surgical removal of resectable lesions at median (IQR) age of 14 (6,42) months. 14 (27%) children had associated congenital heart disease. Median duration of follow-up was 13 months. In children with lung hypoplasia, median (IQR) number of hospitalizations in follow-up were significantly less than that prior to diagnosis 0 (0,0) vs 1(0,2) (P=0.001). Median (IQR) numbers of hospitalizations in follow up were significantly less than that of prior to surgical resection 0 (0,0) vs 1(1,1) (P=0.016) in children with CPAM. Conclusion: Lung hypoplasia was the most common congenital lung malformation in our setup. Detection of malformation during antenatal period was poor. Age of diagnosis and surgical intervention is often delayed. Regular follow up and definitive and/or supportive management decreased the morbidity. [ABSTRACT FROM AUTHOR]

In newborns with congenital diaphragmatic hernia (CDH), the radiographic lung area is correlated with functional residual capacity (FRC) and represents an alternative method to estimate lung hypoplasia. In a cohort of newborn CDH survivors, we retrospectively evaluated the relationship between radiographic lung area measured on the 1st day of life and long-term respiratory function. As a secondary analysis, we compared radiographic lung areas and respiratory function between patients undergoing fetal endoscopic tracheal occlusion (FETO) and patients managed expectantly (non-FETO). Total, ipsilateral, and contralateral radiographic areas were obtained by tracing lung perimeter as delineated by the diaphragm and rib cage, excluding mediastinal structures and herniated organs. Tidal volume (VT), respiratory rate (RR), and their Z-Scores when compared to the norm were collected from pulmonary function tests (PFTs) performed at 12 ± 6 months of age. Linear regression analyses using the absolute Z-Score values for each parameter were performed. In CDH survivors, an increase in total and ipsilateral lung area measured at birth was related to a reduction in the absolute Z-Score for VT in PFTs (p = 0.046 and p = 0.023, respectively), indicating a trend toward an improvement in pulmonary volumes and VT normalization. Radiographic lung areas were not significantly different between FETO and non-FETO patients, suggesting a volumetric lung increase due to prenatal intervention. However, the mean Z-Score value for RR was significantly higher in the FETO group (p < 0.001), probably due to impaired diaphragmatic motility in the most severe cases. Further analyses are necessary to better characterize the role of the radiographic pulmonary area in the prognostic evaluation of respiratory function in patients with CDH.Clinical Trial Registration: This trial was registered at ClinicalTrials.gov with the identifier NCT04396028.

Pulmonary hypoplasia or agenesis is a rare congenital disorder that results in lung underdevelopment. This disease is usually found in children but rarely encountered in adults. We describe the case of an 84-year-old woman diagnosed with a unilateral pulmonary hypoplasia presenting simultaneously with left pulmonary artery hypoplasia. Due to this condition, the patient had a lifelong history of pulmonary infections that resulted in several bronchiectases in the affected lung. Moreover, the pulmonary artery hypoplasia led to the development of pulmonary hypertension and collateral circulation causing hemoptysis, giving rise to the patient attending the emergency department. Although we were able to medically manage the hemoptysis, it can be fatal and require surgical intervention. Hence, an early diagnosis is essential so that appropriate follow-up and prompt prevention and treatment of complications, such as pulmonary infections, hemoptysis and pulmonary hypertension, are achieved.

Abstract Background Pre-existing poor respiratory function is a significant challenge for women to successfully continue pregnancy and accomplish delivery. Case Pregnancy and delivery were successfully managed without any maternal or neonatal complications, in a 26-year-old woman with severely impaired respiratory function, due to a unilateral hypoplastic lung, accompanying Scimitar syndrome-like circulation. Hyperventilation, normally observed even at the first trimester, was absent by the end of the second trimester. This would indicate her ventilation must have reached utmost capacity. Premature delivery by the mode of elective cesarean section delivery was, therefore, the most reasonable option. General anesthesia, combined with a continuous epidural infusion of low-concentrate local anesthetics, containing opioid, was sufficient to avoid the need for unexpected mechanical ventilation in intra- and early postoperative periods and to provide excellent post-partum analgesia. Conclusion This combination can be a potent alternative in tailoring anesthesia for cesarean section in women with extremely impaired pulmonary reserve.

Fryns syndrome is a rare multiple congenital anomaly syndrome with incidence of 0.7-1 in 10,000 births. Characteristic features of this syndrome are congenital diaphragmatic hernia, lung hypoplasia, unusual facial features, limb defects and parental consanguinity. Here we report a case of Fryns syndrome of consanguineous parents at the gestation age of 27 week old. Mother presented to department of obstetrics and gynaecology with inability to perceive fetal movements. Ultasonography revealed polyhydramnios, intrauterine growth retardation, and congenital anomaly of diaphragm and absence of fetal heart sound. Based on ultrasound findings, clinical diagnosis of congenital diaphragmatic hernia was made for which therapeutic abortion was performed and a still born fetus was delivered which was sent for post mortem study. On autopsy, diagnosis of Fryns syndrome was made.

Hypophosphatasia is a rare genetic disorder caused by deficiency of tissue-specific alkaline phosphatase as a result of mutations in the ALPL gene. Depending on the form and severity of the disease, pathology may spawn in utero, in childhood or in adult age. Given functions of alkaline phosphatase, patients experience multisystem disorders: primarily changes in bone (osteoporosis, rachitic deformations, fractures), lung disease (hypoplasia with respiratory failure) and central nervous system (seizures), hypercalcemia with development of nephrocalcinosis. Without timely treatment, the disease may be harmful to life in most cases. Patients required observation of a multidisciplinary team of physicians. The only effective treatment is enzyme replacement therapy with asfotase alpha. It is also necessary to carry out symptomatic treatment and rehabilitation of patients with the use of physiotherapy and therapeutic physical training complexes of exercises.

Purpose: We aimed to evaluate the effect of human mesenchymal stem cells (hMSCs) on congenital diaphragmatic hernia (CDH) by intra-amniotic injection in a rat CDH model.Methods: Nitrofen (100 mg) was administered to pregnant rats at E9.5. hMSCs (1.0 × 106) or PBS was injected into each amniotic cavity at E18, and fetuses were harvested at E21. The fetal lungs were classified into normal, CDH, and CDH-hMSCs groups. To determine the lung maturity, we assessed the alveolar histological structure by H&E and Weigert staining and the alveolar arteries by Elastica Van Gieson (EVG) staining. TTF-1, a marker of type II alveolar epithelial cells, was also evaluated by immunohistochemical staining and real-time reverse transcription polymerase chain reaction.Results: The survival rate after intra-amniotic injection was 72.1%. The CDH-hMSCs group had significantly more alveoli and secondary septa than the CDH group (p < 0.05). The CDH-hMSCs group had larger air spaces and thinner alveolar walls than the CDH group (p < 0.05). The medial and adventitial thickness of the pulmonary artery in the CDH-hMSCs group were significantly better (p < 0.001), and there were significantly fewer TTF-1-positive cells than in the CDH group (p < 0.001).Conclusion: These results suggest that intra-amniotic injection of hMSCs has therapeutic potential for CDH. [ABSTRACT FROM AUTHOR]

Background: Premature preterm rupture of membranes (PPROM) is reported to be associated with high rates of neonatal mortality and morbidity. Sildenafil has been used in infants with persistent pulmonary hypertension of newborn (PPHN) due to congenital diaphragmatic hernia (CDH) and bronchopulmonary dysplasia (BPD). Recently, Sildenafil has been evaluated as an alternative or adjunctive pulmonary vasodilator. This case report illustrates the use of early sildenafil for PPHN and right ventricular dysfunction in an unusual setting of lung and renal hypoplasia.Case Presentation: A male infant was born at 37 weeks with a birth weight of 2840 g. Rupture of membranes developed at approximately 24 weeks of gestational age (GA). Bilateral small kidneys (< 2 standard deviations below average) were detected on ultrasound (US) examination at 30 weeks of gestation. The baby developed pneumothorax and pulmonary hypertensive crisis towards the end of the first day. An echocardiogram showed a dilated right ventricle, moderate right ventricular systolic dysfunction, hypoplastic pulmonary arteries and a large patent ductus arteriosus with bidirectional flow. The patient was sedated, paralyzed, and inhaled nitric oxide was administered to decrease the pulmonary resistance. In anticipation of persistent pulmonary hypertension due to the hypoplastic lungs and small calibre of pulmonary arteries, sildenafil was started on day of life (DOL) 5 at a dosage of 0.25 mg/kg/dose Q8H and gradually increased to 2 mg/kg/dose Q8H on DOL 9. The patient was finally extubated on DOL 7 and weaned off of non-invasive respiratory support on DOL 26. Sildenafil was gradually weaned beginning on DOL 21 and discontinued on DOL 48. Repeat echocardiogram assessment at 3 months showed complete resolution of PHT and right ventricular dilatation.Conclusions: We describe the early use of sildenafil in treating pulmonary hypertension associated with lung and renal hypoplasia in a non-CDH patient. Following this treatment the patient made a full recovery from right ventricular dysfunction. [ABSTRACT FROM AUTHOR]