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Birth Defects Research Aug 2022Congenital diaphragmatic hernia (CDH) occurs when abnormal diaphragm development allows herniation of abdominal organs into the thoracic cavity. Its etiopathogenesis is...
BACKGROUND
Congenital diaphragmatic hernia (CDH) occurs when abnormal diaphragm development allows herniation of abdominal organs into the thoracic cavity. Its etiopathogenesis is not well understood, but cigarette smoking and alcohol exposure may impact diaphragm development. Using data from a large, population-based case-control study, we examined associations between maternal cigarette smoking and alcohol consumption and CDH in offspring.
METHODS
We analyzed maternal interview reports of cigarette smoking and alcohol consumption during early pregnancy for 831 children with CDH and 11,416 children without birth defects with estimated dates of delivery during 1997-2011. Generalized linear mixed effects models with a random intercept for study site were used to estimate associations between measures of exposure to smoking (any, type, frequency, duration) and alcohol (any, quantity, frequency, variability, type) for all CDH combined and selected subtypes (Bochdalek and Morgagni).
RESULTS
Mothers of 280 (34.0%) case and 3,451 (30.3%) control children reported early pregnancy exposure to cigarette smoking. Adjusted odds ratios for all CDH were increased for any (1.3; 95% confidence interval 1.1-1.5), active (1.3, 1.0-1.7), and passive (1.4, 1.1-1.7) smoking. Early pregnancy alcohol consumption was reported by mothers of 286 (34.9%) case and 4,200 (37.0%) control children; odds were near the null for any consumption (0.9, 0.8-1.1) and consumption with (0.9, 0.7, 1.1) or without (0.9, 0.8, 1.1) binging. Estimates for smoking and alcohol tended to be higher for Bochdalek CDH and Morgagni CDH than those for all CDH.
CONCLUSIONS
Findings suggest that maternal early pregnancy exposure to cigarette smoking, but less so to alcohol consumption, contributes to CDH. These findings need to be replicated in additional large studies that use systematic case ascertainment and classification, detailed exposure assessment, and examine subtype-specific associations.
Topics: Alcohol Drinking; Case-Control Studies; Child; Cigarette Smoking; Female; Hernias, Diaphragmatic, Congenital; Humans; Maternal Exposure; Pregnancy
PubMed: 35757961
DOI: 10.1002/bdr2.2059 -
Jornal de Pediatria 2020
Topics: Child; Cohort Studies; Hernias, Diaphragmatic, Congenital; Humans; Prognosis; Retrospective Studies
PubMed: 31629706
DOI: 10.1016/j.jped.2019.10.002 -
International Journal of Molecular... Apr 2023Epigenetic regulators such as microRNAs (miRNAs) have a key role in modulating several gene expression pathways and have a role both in lung development and function.... (Review)
Review
Epigenetic regulators such as microRNAs (miRNAs) have a key role in modulating several gene expression pathways and have a role both in lung development and function. One of the main pathogenetic determinants in patients with congenital diaphragmatic hernia (CDH) is pulmonary hypertension (PH), which is directly related to smaller lung size and pulmonary microarchitecture alterations. The aim of this review is to highlight the importance of miRNAs in CDH-related PH and to summarize the results covering this topic in animal and human CDH studies. The focus on epigenetic modulators of CDH-PH offers the opportunity to develop innovative diagnostic tools and novel treatment modalities, and provides a great potential to increase researchers' understanding of the pathophysiology of CDH.
Topics: Animals; Humans; Hernias, Diaphragmatic, Congenital; MicroRNAs; Hypertension, Pulmonary; Lung; Pulmonary Arterial Hypertension
PubMed: 37047629
DOI: 10.3390/ijms24076656 -
European Journal of Pediatrics Jun 2021Neonatal extracorporeal membrane oxygenation (ECMO) is a life-saving procedure for critically ill neonates suffering from a potentially reversible disease, causing... (Review)
Review
Neonatal extracorporeal membrane oxygenation (ECMO) is a life-saving procedure for critically ill neonates suffering from a potentially reversible disease, causing severe cardiac and/or respiratory failure and refractory to maximal conventional management. Since the 1970s, technology, management, and clinical applications of neonatal ECMO have changed. Pulmonary diseases still represent the principal neonatal diagnosis, with an overall 74% survival rate, and up to one-third of cases are due to congenital diaphragmatic hernia. The overall survival rate in cardiac ECMO is lower, with congenital heart defect representing the main indication. This review provides an overview of the available evidence in the field of neonatal ECMO. We will address the changing epidemiology, basic principles, technologic advances in circuitry, and monitoring, and deliver a current multidisciplinary management framework, focusing on ECMO applications, complications, and long-term morbidities. Lastly, areas for further research will be highlighted.Conclusions: ECMO is a life support with a potential impact on long-term patients' outcomes. In the next years, advances in knowledge, technology, and expertise may push neonatal ECMO boundaries towards more premature and increasingly complex infants, with the final aim to reduce the burden of ECMO-related complications and improve overall patients' outcomes. What is Known: • ECMO is a life-saving option in newborns with refractory respiratory and/or cardiac failure. • The multidisciplinary ECMO management is challenging and may expose neonates to complications with an impact on long-term outcomes. What is New: • Advances in technology and biomaterials will improve neonatal ECMO management and, eventually, the long-term outcome of these complex patients. • Experimental models of artificial placenta and womb technology are under investigation and may provide clinical translation and future research opportunities.
Topics: Europe; Extracorporeal Membrane Oxygenation; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Respiratory Insufficiency; Survival Rate
PubMed: 33547504
DOI: 10.1007/s00431-020-03898-9 -
Journal of Minimally Invasive Surgery Jun 2022Chronic posttraumatic diaphragmatic hernia is an unusual disease with challenging diagnosis and treatment. Surgery represents the treatment of choice which can be...
Chronic posttraumatic diaphragmatic hernia is an unusual disease with challenging diagnosis and treatment. Surgery represents the treatment of choice which can be transabdominal, transthoracic, or combined approach. The principles of surgery consist of herniated visceral organs reduction and diaphragmatic defect closure. This video demonstrates the steps of chronic posttraumatic diaphragmatic hernia repair via a laparoscopic approach and concerning points during the operation.
PubMed: 35821686
DOI: 10.7602/jmis.2022.25.2.77 -
Nigerian Journal of Clinical Practice Apr 2022Diaphragmatic hernias can develop congenitally or secondary to trauma. Congenital diaphragmatic hernias occur with Bochdalek hernia and Morgagni hernia (MH). In this...
BACKGROUND AND AIM
Diaphragmatic hernias can develop congenitally or secondary to trauma. Congenital diaphragmatic hernias occur with Bochdalek hernia and Morgagni hernia (MH). In this study, we aimed to present laparoscopic and open surgical treatment for traumatic and congenital diaphragmatic hernias, and complications and length of hospital stay in the light of the literature.
PATIENTS AND METHODS
Twenty-two patients who were diagnosed with diaphragmatic hernia between January 2013 and January 2020 in our clinic were examined retrospectively in terms of demographic features, clinical and radiological findings, and length of hospital stay.
RESULTS
The complaints of the patients diagnosed with diaphragmatic hernia were often abdominal pain, shortness of breath, early satiety, nausea, vomiting, and abdominal distention. The mean age of the patients was 54 (19-88) years. Sixteen patients were females and six were males. Two patients were operated due to stab injury, six patients were operated due to ileus, and the remaining fourteen patients were operated due to congenital diaphragmatic hernia. Eight patients were operated under emergency conditions. The remaining patients were operated under elective conditions. The average hospital stay was 6(3-15) days. The length of hospital stay of those who underwent laparoscopic surgery was 4 (3-5) days. No patient had an exitus. All patients were discharged with healing. This rare pathology should be remembered especially in patients presenting with acute abdominal complaints accompanied by respiratory complaints.
CONCLUSION
We think that cases with MH detected incidentally should be operated laparoscopically before becoming complicated.
Topics: Abdominal Pain; Aged; Aged, 80 and over; Female; Hernia, Hiatal; Hernias, Diaphragmatic, Congenital; Humans; Laparoscopy; Male; Middle Aged; Retrospective Studies
PubMed: 35439895
DOI: 10.4103/njcp.njcp_605_20 -
International Journal of Molecular... Jun 2021Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We reviewed current knowledge on normal diaphragm development and summarized genetic mutations and related pathways as well as cellular mechanisms involved in CDH. Our literature analysis showed that the discovery of harmful variants in the fetus could constitute an important tool for the medical team during pregnancy, counselling, and childbirth. A better insight into the mechanisms regulating diaphragm development and genetic causes leading to CDH appeared essential to the development of new therapeutic strategies and evidence-based genetic counselling to parents. Integrated sequencing, development, and bioinformatics strategies could direct future functional studies on CDH; could be applied to cohorts and consortia for CDH and other birth defects; and could pave the way for potential therapies by providing molecular targets for drug discovery.
Topics: Diaphragm; Genetic Predisposition to Disease; Hernias, Diaphragmatic, Congenital; High-Throughput Nucleotide Sequencing; Humans; Prognosis
PubMed: 34198563
DOI: 10.3390/ijms22126353 -
International Journal of Surgery Case... May 2022We are reporting a case of a delayed hepatothorax due to a right-sided diaphragmatic rupture 13 years after a blunt trauma due to a motor vehicle accident, who...
INTRODUCTION AND IMPORTANCE
We are reporting a case of a delayed hepatothorax due to a right-sided diaphragmatic rupture 13 years after a blunt trauma due to a motor vehicle accident, who presented as isolated gastritis without any type of respiratory symptomatology.
CASE PRESENTATION
Patient refers that his symptoms remained refractory to medical treatment and had gotten worse over time. Chest wall inspection showed asymmetric thoracic expansion and a decreased movement of right hemithorax when compared to the left. Cardiorespiratory auscultation was significant for growling sounds on the right second intercostal space and reduction of breath sounds on the right lower lobe region of the lung when compared to the left side.
CLINICAL DISCUSSION
Thoracotomy was indicated since patient presented late. Meanwhile, laparotomy would have been appropriate if the patient had presented immediately after trauma. After the procedure, the patient presented in great condition and all the gastrointestinal symptoms associated with the traumatic diaphragmatic hernia had resolved. We propose that the absence of respiratory symptoms in our patient could be due to the progressive adaptation of small, cumulative changes in decreasing breathing capacity through time.
CONCLUSION
A case like ours has not been reported in the literature and clinicians should take this case report into consideration when suspecting a possible diagnosis of a delayed traumatic diaphragmatic hernia that may be complicated by a hepatothorax. We recommend maintaining a high index of clinical suspicion for hepatothorax due to delayed traumatic diaphragmatic hernia for all patients with a history of trauma.
PubMed: 35421730
DOI: 10.1016/j.ijscr.2022.107017 -
American Journal of Respiratory Cell... Nov 2023
Topics: Humans; Hernias, Diaphragmatic, Congenital; NF-kappa B; Organogenesis; Signal Transduction; Lung
PubMed: 37566564
DOI: 10.1165/rcmb.2023-0258ED -
International Journal of Environmental... Sep 2022Sildenafil, a phosphodiesterase 5 inhibitor with a vasodilatory and anti-remodeling effect, has been investigated concerning various conditions during pregnancy. Per... (Review)
Review
Sildenafil, a phosphodiesterase 5 inhibitor with a vasodilatory and anti-remodeling effect, has been investigated concerning various conditions during pregnancy. Per indication, we herein review the rationale and the most relevant experimental and clinical studies, including systematic reviews and meta-analyses, when available. Indications for using sildenafil during the second and third trimester of pregnancy include maternal pulmonary hypertension, preeclampsia, preterm labor, fetal growth restriction, oligohydramnios, fetal distress, and congenital diaphragmatic hernia. For most indications, the rationale for administering prenatal sildenafil is based on limited, equivocal data from in vitro studies and rodent disease models. Clinical studies report mild maternal side effects and suggest good fetal tolerance and safety depending on the underlying pathology.
Topics: Female; Fetal Growth Retardation; Hernias, Diaphragmatic, Congenital; Humans; Hypertension, Pulmonary; Phosphodiesterase 5 Inhibitors; Pre-Eclampsia; Pregnancy; Sildenafil Citrate
PubMed: 36141480
DOI: 10.3390/ijerph191811207