Hepatopulmonary fusion in congenital diaphragmatic hernia: successful management of a lethal variant.

Congenital diaphragmatic hernia (CDH) is a congenital anomaly involving the herniation of intra-abdominal contents into the thoracic cavity. Hepatopulmonary fusion (HPF), an exceedingly rare subtype mainly associated with right-sided CDH, presents unique diagnostic and therapeutic challenges. This case report describes a male infant with right-sided CDH complicated by HPF. The intricate anatomical anomaly involved the fusion of the right lung to the liver, posing challenges during surgical separation. The patient experienced postoperative complications, including prolonged ventilation, tracheostomy and pulmonary issues, which led to a prolonged hospital stay. Intraoperative challenges stem from the absence of demarcation between lung and liver tissues and abnormal vascular structures. In summary, managing HPF in right-sided CDH necessitates a customised, multidisciplinary approach to optimise patient outcomes, highlighting the need for ongoing research to refine understanding and treatment strategies.

[Surgery for complicated accessory lobe of the azygos vein]. / Khirurgiya oslozhnennoi dobavochnoi doli neparnoi veny.

Congenital anomalies of respiratory system are quite diverse and not all of them are subject to surgical treatment. One example is accessory lobe of the azygos vein. This anomaly usually has no clinical manifestations and requires only follow-up, as well as attention in surgery on the right half of the chest for some other disease. This situation changes when complications occur, for example, purulent-inflammatory process. Therapy is not always effective, and lung tissue destruction requires surgical treatment. Progressive destruction complicates diagnosis and choosing surgical tactics. We present a rare case of severe purulent-inflammatory complication with abscess in accessory lobe of v. azygos. Anatomical abnormalities following this congenital pulmonary anomaly can cause difficulties in surgeries for other intra-thoracic diseases. The situation is especially relevant for thoracoscopic access. This report will be useful for radiologists, pulmonologists and thoracic surgeons.

Interstitial Lung Abnormalities: Current Understanding.

Interstitial lung abnormalities (ILAs) are incidental findings on computed tomography scans, characterized by nondependent abnormalities affecting more than 5% of any lung zone. They are associated with factors such as age, smoking, genetic variants, worsened clinical outcomes, and increased mortality. Risk stratification based on clinical and radiological features of ILAs is crucial in clinical practice, particularly for identifying cases at high risk of progression to pulmonary fibrosis. Traction bronchiectasis/bronchiolectasis index has emerged as a promising imaging biomarker for prognostic risk stratification in ILAs. These findings suggest a spectrum of fibrosing interstitial lung diseases, encompassing from ILAs to pulmonary fibrosis.

Hydrops fetalis caused by a complex congenital heart defect with concurrent hypoplasia of pulmonary blood vessels and lungs visualized by micro-CT in a French Bulldog.

BACKGROUND: Hydrops fetalis (HF) is fluid accumulation in fetus body cavities and subcutaneous tissue. The condition has been described in various farm and companion animal species, including dogs. Most of cases result from a heart defect. Exact nature of this defect is rarely clarified. CASE PRESENTATION: A newborn, male French bulldog puppy with severe HF underwent a full anatomopathological examination to diagnose the primary cause of HF. Based on the anatomopathological examination, fetal ultrasound, and micro-computed tomography, transposition of the great arteries with hypoplasia of the ascending aorta, aortic arch interruption, ostium secundum atrial septal defect, severe tricuspid valve dysplasia, as well as hypoplasia of pulmonary vessels and lungs were diagnosed. CONCLUSIONS: This is the first report of HF caused by severe, complex congenital heart defects with concurrent pulmonary vessel and lung hypoplasia.

Early Lung Ultrasound Scores in Neonates With Respiratory Distress - A Cross-Sectional Study From South India.

OBJECTIVE: To estimate the lung ultrasound (LUS0) scores within 6 hours of birth in neonates with respiratory distress (RD) and assess its ability to predict the severity of RD. METHODS: This single-center cross-sectional study included all neonates admitted with RD during the study period for whom a LUS was performed within 6h of birth. LUS0 scoring was done by dividing the lung fields into 3 fields on either side and a score from 0 to 3 per field (maximum score 18). We excluded neonates with congenital heart disease, congenital anomalies of chest/lung, chromosomal anomalies and if the operator for LUS0 was not available. ROC curves were constructed for estimating the cut-off LUS0 score for the severity of RD in terms of the following six outcomes: fraction of inspired oxygen (FiO2) requirement >50% during first 3 days of life, need for invasive ventilation on day 3 of life, Silverman-Anderson score >7, surfactant requirement, radiological grades of RDS, and death. RESULTS: The median (IQR) LUS0 scores were significantly higher in neonates with greater severity of RD in terms of FiO2 requirement >50% during first 3 days of life [12.0, (5.0, 14.0)], need for invasive ventilation on day 3 of life [12.0 (7.5, 12.5)], Silverman-Anderson score ≥ 7 in preterm [9.5, (6.0, 12.0)], surfactant requirement [11.5, (4.0, 12.5)], radiological grades of RDS [10.0, (4.0, 12.0)], and death [12.0, (7.0, 15.0)]. In logistic regression analysis, with continuous LUS0 scores as covariates, the odds ratio significantly increased for every unit increase in LUS0 score. CONCLUSION: Early LUS0 scores can predict the prognosis and severity of neonatal RD.

Outcome of fetal congenital pulmonary malformations: a systematic review and meta-analysis.

OBJECTIVES: To report the outcome of fetuses with a prenatal diagnosis of congenital lung malformation (CLM) diagnosed on ultrasound by performing a comprehensive assessment of these outcomes through a systematic review and meta-analysis. CONTENT: CLMs are a heterogeneous group of anomalies that involve the lung parenchyma and its bronchovascular structures. Their presentation and evolution are variable, from entirely asymptomatic lesions with sonographic regression in utero to hydropic fetuses requiring fetal therapy, intrauterine death or neonatal morbidity. A systematic review was conducted in Medline, Embase and Cochrane databases including studies on fetuses with CLM diagnosed prenatally in order to report the in-utero natural history of these lesions. Thirty-nine studies (2,638 fetuses) were included in the final review. SUMMARY: Regression/reduction in size of the lung lesion during pregnancy was reported in 31 % of cases, while its increase in 8.5 % of cases. Intra-uterine death complicated 1.5 % of pregnancies with fetal CLM, while neonatal and perinatal death were 2.2 and 3 %, respectively. Neonatal morbidity occurred in 20.6 % of newborns with CLM; 46 % had surgery, mainly elective. In fetuses with CLM and hydrops, fetal/perinatal loss occurred in 42 %. Assessment of the role of fetal therapy in improving the outcomes of pregnancies complicated by CLM was hampered by the small number of included cases and heterogeneity of type of interventions. OUTLOOK: Fetuses with CLM prenatally diagnosed have a generally favorable outcome. Conversely, there is a low quality of evidence on the actual role of fetal therapy in improving the outcome of fetuses presenting with these anomalies.

Non-tuberculous mycobacterial pulmonary infection presenting in a patient with unilateral pulmonary artery agenesis.

People who have structural or developmental lung disease are more likely to develop non-tuberculous mycobacterial infections. We present the case of a young man in his 30s who had unilateral pulmonary artery agenesis on the right side and presented with a 6-month history of productive cough and fever. His CT scan showed nodular and cavitating lesions on the right side, and sputum analysis confirmed infection with Mycobacterium chimaera He had to undergo modifications in his treatment, including a change from rifampicin to rifabutin due to drug interactions and his amikacin had to be stopped due to signs of vestibular toxicity. Using a multidisciplinary approach, we were able to formulate an appropriate drug regimen for him, and he is now under regular follow-up with infectious diseases and respiratory medicine.

[Congenital pulmonary malformations : Diagnosis and treatment]. / Kongenitale Lungenfehlbildungen : Diagnostik und Therapie.

PERFORMANCE: Congenital pulmonary malformations (CPM) are rare and can be associated with high morbidity. Clinical presentation, diagnostic procedures, imaging, and therapy of CPM are discussed. ACHIEVEMENTS: Today, most CPM can be diagnosed prenatally by ultrasound. Postnatally, respiratory symptoms up to respiratory failure and recurrent lower respiratory tract infection are typical findings. Due to low diagnostic accuracy of chest x­ray in CPM, all children with prenatal diagnosis of CPM or postnatally suspected CPM should undergo cross-sectional imaging. PRACTICAL RECOMMENDATIONS: Based on imaging alone, the various subtypes of CPM cannot be definitively differentiated, which is why histological confirmation remains the gold standard. Surgical resection is the standard of care with minimally invasive procedures increasingly being employed. In certain situations, a watch-and-wait approach is possible.

The RNA-binding protein quaking is upregulated in nitrofen-induced congenital diaphragmatic hernia lungs at the end of gestation.

BACKGROUND: The RNA-binding protein Quaking (QKI) increases during epithelial-to-mesenchymal transition and its expression is controlled by microRNA-200 family members. Here, we aimed to describe the expression of QKI in the developing lungs of control and nitrofen-induced congenital diaphragmatic hernia lungs (CDH). METHODS: To investigate the expression of QKI, we dissected lungs from control and nitrofen-induced CDH rats on embryonic day 15, 18, 21 (E15, E18, E21). We performed immunofluorescence (IF) and quantitative reverse transcription PCR (RT-qPCR) for QKI expression. Additionally, we assessed Interleukin-6 (IL-6) abundance using IF. RESULTS: On E21, IF showed that the abundance of all three QKI isoforms and IL-6 protein was higher in CDH lungs compared to control lungs (QKI5: p = 0.023, QKI6: p = 0.006, QKI7: p = 0.014, IL-6: p = 0.045, respectively). Furthermore, RT-qPCR data showed increased expression of QKI5, QKI6, and QKI7 mRNA in E21 nitrofen lungs by 1.63 fold (p = 0.001), 1.63 fold (p = 0.010), and 1.48 fold (p = 0.018), respectively. CONCLUSIONS: Our data show an increase in the abundance and expression of QKI at the end of gestation in nitrofen-induced CDH lungs. Therefore, a disruption in the regulation of QKI during the late stage of pregnancy could be associated with the pathogenesis of abnormal lung development in CDH.

A founder variant expands the phenotype of WNT7B-related PDAC syndrome.

Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetically heterogeneous multiple congenital malformation syndrome. Although pathogenic variants in RARB and STRA6 are established causes of PDAC, many PDAC cases remain unsolved at the molecular level. Recently, we proposed biallelic WNT7B variants as a novel etiology based on several families with typical features of PDAC syndrome albeit with variable expressivity. Here, we report three patients from two families that share a novel founder variant in WNT7B (c.739C > T; Arg247Trp). The phenotypic expression of this variant ranges from typical PDAC features to isolated genitourinary anomalies. Similar to previously reported PDAC-associated WNT7B variants, this variant was found to significantly impair WNT7B signaling activity further corroborating its proposed pathogenicity. This report adds further evidence to WNT7B-related PDAC and expands its variable expressivity.

Congenital Diaphragmatic Hernia: Pulmonary Hypertension and Pulmonary Vascular Disease.

This review provides a comprehensive summary of the current understanding of pulmonary hypertension (PH) in congenital diaphragmatic hernia, outlining the underlying pathophysiologic mechanisms, methods for assessing PH severity, optimal management strategies, and prognostic implications.

Decreased ß-catenin Protein in Lungs From Human Congenital Diaphragmatic Hernia Archival Pathology Specimens: A Case-control Study.

BACKGROUND: Lung hypoplasia contributes to congenital diaphragmatic hernia (CDH) associated morbidity and mortality. Changes in lung wingless-type MMTV integration site family member (Wnt)-signalling and its downstream effector beta-catenin (CTNNB1), which acts as a transcription coactivator, exist in animal CDH models but are not well characterized in humans. We aim to identify changes to Wnt-signalling gene expression in human CDH lungs and hypothesize that pathway expression will be lower than controls. METHODS: We identified 51 CDH cases and 10 non-CDH controls with archival formalin-fixed paraffin-embedded (FFPE) autopsy lung tissue from 2012 to 2022. 11 liveborn CDH cases and an additional two anterior diaphragmatic hernias were excluded from the study, leaving 38 CDH cases. Messenger ribonucleic acid (mRNA) expression of Wnt-signalling effectors WNT2B and CTNNB1 was determined for 19 CDH cases and 9 controls. A subset of CDH cases and controls lung sections were immunostained for ß-catenin. Clinical variables were obtained from autopsy reports. RESULTS: Median gestational age was 21 weeks. 81% (n = 31) of hernias were left-sided. 47% (n = 18) were posterolateral. Liver position was up in 81% (n = 31) of cases. Defect size was Type C or D in 58% (n = 22) of cases based on autopsy photos, and indeterminable in 42% (n = 16) of cases. WNT2B and CTNNB1 mRNA expression did not differ between CDH and non-CDH lungs. CDH lungs had fewer interstitial cells expressing ß-catenin protein than non-CDH lungs (13.2% vs 42.4%; p = 0.006). CONCLUSION: There appear to be differences in the abundance and/or localization of ß-catenin proteins between CDH and non-CDH lungs. LEVEL OF EVIDENCE: Level III. TYPE OF STUDY: Case-Control Study.