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The Journal of Pediatrics Sep 2023
Topics: Humans; Hernias, Diaphragmatic, Congenital; Hypertension, Pulmonary; Echocardiography; Ventricular Function
PubMed: 37315779
DOI: 10.1016/j.jpeds.2023.113550 -
Seminars in Perinatology Feb 2020Survivorship of patients with congenital diaphragmatic hernia (CDH) has created a unique cohort of children, adolescents and adults with complex medical and surgical... (Review)
Review
Survivorship of patients with congenital diaphragmatic hernia (CDH) has created a unique cohort of children, adolescents and adults with complex medical and surgical needs. Morbidities specific to this disease benefit from multi-specialty care, and the long term follow up of these patients offers a tremendous opportunity for research and collaboration. Herein we aim to offer an overview of the challenges that modern CDH survivors face, and include a risk-stratified algorithm as a general guideline for a multi-specialty follow up program.
Topics: Aftercare; Disease Management; Exercise Tolerance; Family Health; Hernias, Diaphragmatic, Congenital; Humans; Hypertension, Pulmonary; Neurodevelopmental Disorders; Quality of Life; Respiratory Insufficiency; Survivors; Transition to Adult Care
PubMed: 31451197
DOI: 10.1053/j.semperi.2019.07.010 -
Journal of Trauma Nursing : the...To provide a concise review of the literature on both the difficulty and subtly of identifying a traumatic diaphragmatic hernia in the delayed phase of injury. (Review)
Review
OBJECTIVE
To provide a concise review of the literature on both the difficulty and subtly of identifying a traumatic diaphragmatic hernia in the delayed phase of injury.
DATA SOURCES
Source data were obtained from PubMed and Open Access Journals.
STUDY SELECTION
Studies addressing traumatic diaphragmatic injury in the delayed phase of diaphragmatic injury. PubMed was searched using the MeSH term "delayed diaphragmatic rupture."
DATA EXTRACTION
Relevant studies were reviewed and included on the basis of the preponderance of diaphragmatic injury cases that presented in the delayed phase. The following aspects of each study were identified, abstracted, and analyzed: study population, study design, methods, results, and relevant implications for practice. A few case studies were included to illustrate the importance of a careful medical history and patient evaluation necessary to identify a delayed diaphragmatic hernia presentation.
DATA SYNTHESIS
Diaphragmatic herniation can occur days and weeks to decades after the initial trauma as a small diaphragmatic tear can evolve into a larger one over time. Follow-up after the acute phase is essential to assess for occult diaphragmatic injury and potential herniation. Meticulous patient history and evaluation are important considerations when the patient presents after the acute phase of injury with vague respiratory or abdominal complaints. During the triage phase of care, trauma nurses have an important role in assessing trauma history.
CONCLUSIONS
The available evidence suggests that diaphragmatic injury should be on the differential list during and after trauma presentation for both providers and trauma nurses. Other critical injuries may portend a possible diaphragmatic injury. Diaphragmatic injury, though relatively rare, has high morbidity and mortality.
Topics: Hernia, Diaphragmatic, Traumatic; Humans; Rupture; Thoracic Injuries
PubMed: 35007251
DOI: 10.1097/JTN.0000000000000626 -
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 -
Pediatric Surgery International May 2023Congenital diaphragmatic hernia (CDH) is a birth defect characterized by the incomplete closure of the diaphragm and herniation of abdominal organs into the chest during... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a birth defect characterized by the incomplete closure of the diaphragm and herniation of abdominal organs into the chest during gestation. This invariably leads to an impairment in fetal lung development (pulmonary hypoplasia) that involves the pulmonary vessels (vascular remodeling) leading to postnatal pulmonary hypertension. Moreover, approximately 60% of CDH survivors have long-term comorbidities, including critical cardiac anomalies, neurodevelopmental impairment, gastroesophageal reflux, and musculoskeletal malformations. While the pathophysiology of the diaphragmatic defect and pulmonary hypoplasia have been studied in detail over the decades, less is known about the other organs affected in CDH. In this review, we searched the literature for reports on other organs beyond the lung and diaphragm in human and experimental models of CDH. We found studies reporting gross morphometric changes and alterations to biological pathways in the heart, brain, liver, kidney, gastrointestinal tract, and musculoskeletal system. Given the paucity of literature and the importance that these comorbidities play in the life of patients with CDH, further studies are needed to comprehensively uncover the pathophysiology of the changes observed in these other organs.
Topics: Humans; Diaphragm; Hernias, Diaphragmatic, Congenital; Liver; Hypertension, Pulmonary; Lung
PubMed: 37160490
DOI: 10.1007/s00383-023-05471-5 -
European Journal of Cardio-thoracic... Dec 2021
Topics: Female; Hernias, Diaphragmatic, Congenital; Humans; Intrauterine Devices; Laparoscopy
PubMed: 34113970
DOI: 10.1093/ejcts/ezab274 -
Pediatric Radiology Jul 2019A hernia is due to a defect in the diaphragm. An eventration is due to a thinned diaphragm with no central muscle. Distinguishing right diaphragmatic hernia from... (Comparative Study)
Comparative Study
BACKGROUND
A hernia is due to a defect in the diaphragm. An eventration is due to a thinned diaphragm with no central muscle. Distinguishing right diaphragmatic hernia from eventration on chest radiographs can be challenging if no bowel loops are herniated above the diaphragm. Experience is limited with postnatal ultrasound (US) evaluation of diaphragmatic hernia or eventration.
OBJECTIVE
To evaluate for specific US signs in the diagnosis of right diaphragmatic hernia and eventration.
MATERIALS AND METHODS
We identified all patients (January 2007-December 2017) with right diaphragm US and surgery for eventration or hernia. We reviewed medical charts, and US images/reports for clinical presentation and diaphragm abnormalities. Surgical diagnosis was considered the reference standard.
RESULTS
Seventeen children (mean age: 5 months) had US examination before surgery for hernia (n=9) or eventration (n=8). The most common presentation was respiratory distress. In the US reports, hernia was correctly diagnosed in all patients and three patients with eventration were misdiagnosed as hernia, yielding 100% sensitivity and 62.5% specificity. In a retrospective evaluation of the US studies, a combination of folding of a free muscle edge with a narrow angle waist had 100% specificity for hernia and was seen in 7/9 children with hernia. Combination of a broad angle waist and hypoechoic strip of diaphragmatic muscle covering the waist had 100% specificity for eventration and was demonstrated in 4/8 children with eventration. Five of 17 patients (31.6%) had no specific sign that differentiated hernia from eventration.
CONCLUSION
On US, folding of the free edge of the diaphragm and a narrow angle waist are specific for hernia; a broad angle waist with muscle covering the elevated area is specific for eventration. Definitive differentiation between eventration and hernia may not be possible in about a third of patients.
Topics: Age Factors; Child; Child, Preschool; Cohort Studies; Diagnosis, Differential; Diaphragmatic Eventration; Female; Follow-Up Studies; Hernias, Diaphragmatic, Congenital; Herniorrhaphy; Humans; Infant; Male; Preoperative Care; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Ultrasonography, Doppler
PubMed: 31139880
DOI: 10.1007/s00247-019-04417-1 -
PloS One 2019Controversy persists regarding many aspects of traumatic diaphragmatic hernia (TDH). We aimed to understand why some traumatic diaphragmatic injuries present with...
Controversy persists regarding many aspects of traumatic diaphragmatic hernia (TDH). We aimed to understand why some traumatic diaphragmatic injuries present with chronic hernia and to evaluate diagnosis and treatment options. Fifty acute and 19 chronic TDH patients were diagnosed and treated at our institution over a 10-year period. Clinical data from these two groups were analyzed statistically and compared. Chronic TDH patients had a significantly lower Injury Severity Score than acute TDH patients (10.26 ± 2.68 vs. 26.92 ± 4.79, P < 0.001). The most common surgical approach for acute and chronic TDH was thoracotomy and laparotomy, respectively. The length of the diaphragmatic rupture was significantly shorter in chronic TDH patients than acute TDH patients (6.00 ± 1.94 cm vs. 10.71 ± 3.30 cm, P < 0.001). The mean length of hospital stay was significantly longer for acute TDH patients than chronic TDH patients (41.18 ± 31.02 days vs. 16.65 ± 9.61 days, P = 0.002). In conclusion, milder trauma and a smaller diaphragmatic rupture were associated with delayed diagnosis. A thoraco-abdominal computed tomography scan is needed for patients with periphrenic injuries to avoid delayed diagnosis of TDH. Improved awareness and understanding of diaphragmatic injuries will increase the rate of early diagnosis and improve prognosis.
Topics: Abdominal Injuries; Acute Disease; Adolescent; Adult; Aged; Chronic Disease; Delayed Diagnosis; Female; Hernia, Diaphragmatic, Traumatic; Humans; Injury Severity Score; Laparotomy; Male; Middle Aged; Thoracic Injuries; Thoracotomy; Young Adult
PubMed: 31830097
DOI: 10.1371/journal.pone.0226364 -
Prenatal Diagnosis Mar 2022To define the dimensions of patient-centeredness of prenatal care for parents who had a fetus with isolated congenital diaphragmatic hernia (CDH) by exploring their...
OBJECTIVE
To define the dimensions of patient-centeredness of prenatal care for parents who had a fetus with isolated congenital diaphragmatic hernia (CDH) by exploring their values, experiences, needs and preferences.
METHODS
In-depth interviews with parents who were faced with the prenatal diagnosis of isolated CDH.
RESULTS
Interviews (n = 18) identified seven dimensions of patient-centeredness. Parental preferences are respected by unconditional acceptance of parental choices and needs. After diagnosis access to care should occur by swift referral to a specialised centre to prevent parents receiving contradictory information. Information and education help parents to gain some sense of control and cope with the many uncertainties. A multidisciplinary team with a coordinating professional is perceived supportive (coordination and integration), and seamless referral between local and treatment centres reduces parental distress (continuity and transition). Family-centred emotional support helps parents to cope with emotions and distress. Informal support by involvement of family and friends and trusted peer-support is of added value.
CONCLUSION
The impact of the uncertainty of outcome in this condition is tremendous and needs to be considered when providing prenatal care. After initial diagnosis, one should avoid speculation about the severity of the condition and outcome, and provide swift referral to a specialist centre expert in managing CDH. Provision of realistic and comprehensive information helps parents cope. Multidisciplinary and continuous support throughout the full trajectory, but also integrated psychosocial support should become standard-of-care.
Topics: Counseling; Educational Status; Female; Hernias, Diaphragmatic, Congenital; Humans; Parents; Pregnancy; Prenatal Diagnosis
PubMed: 35184301
DOI: 10.1002/pd.6118 -
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