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Translational Pediatrics Apr 2024In congenital diaphragmatic hernia (CDH), abdominal organs are displaced into the chest, compress the lungs, and cause mediastinal shift. This contributes to development... (Review)
Review
In congenital diaphragmatic hernia (CDH), abdominal organs are displaced into the chest, compress the lungs, and cause mediastinal shift. This contributes to development of pulmonary hypoplasia and hypertension, which is the primary determinant of morbidity and mortality for affected newborns. The severity is determined using prenatal imaging as early as the first trimester and is related to the laterality of the defect, extent of lung compression, and degree of liver herniation. Comprehensive evaluation of fetal CDH includes imaging-based severity assessment, severity assessment, and evaluation for structural or genetic abnormalities to differentiate isolated from complex cases. Prenatal management involves multispecialty counseling, consideration for fetal therapy with fetoscopic endoluminal tracheal occlusion (FETO) for severe cases, monitoring and intervention for associated polyhydramnios or signs of preterm labor if indicated, administration of antenatal corticosteroids in the appropriate setting, and planned delivery to optimize the fetal condition at birth. Integrated programs that provide a smooth transition from prenatal to postnatal care produce better outcomes. Neonatal care involves gentle ventilation to avoid hyperinflation and must account for transitional physiology to avoid exacerbating cardiac dysfunction and decompensation. Infants who have undergone and responded to FETO have greater pulmonary capacity than expected, but cardiac dysfunction seems unaffected. In about 25-30% of CDH neonates extracorporeal life support is utilized, and this provides a survival benefit for patients with the highest predicted mortality, including those who underwent FETO. Surgical repair after initial medical management for the first 24-48 hours of life is preferred since later repair is associated with delayed oral feeding, increased need for tube feeds, and increased post-repair ventilation requirement and supplemental oxygen at discharge. With overall survival rates >70%, contemporary care involves management of chronic morbidities in the context of a multidisciplinary clinic setting.
PubMed: 38715680
DOI: 10.21037/tp-23-602 -
World Journal of Emergency Surgery :... Jul 2023Diaphragmatic hernia (DH) presenting acutely can be a potentially life-threatening condition. Its management continues to be debatable. (Review)
Review
BACKGROUND
Diaphragmatic hernia (DH) presenting acutely can be a potentially life-threatening condition. Its management continues to be debatable.
METHODS
A bibliographic search using major databases was performed using the terms "emergency surgery" "diaphragmatic hernia," "traumatic diaphragmatic rupture" and "congenital diaphragmatic hernia." GRADE methodology was used to evaluate the evidence and give recommendations.
RESULTS
CT scan of the chest and abdomen is the diagnostic gold standard to evaluate complicated DH. Appropriate preoperative assessment and prompt surgical intervention are important for a clinical success. Complicated DH repair is best performed via the use of biological and bioabsorbable meshes which have proven to reduce recurrence. The laparoscopic approach is the preferred technique in hemodynamically stable patients without significant comorbidities because it facilitates early diagnosis of small diaphragmatic injuries from traumatic wounds in the thoraco-abdominal area and reduces postoperative complications. Open surgery should be reserved for situations when skills and equipment for laparoscopy are not available, where exploratory laparotomy is needed, or if the patient is hemodynamically unstable. Damage Control Surgery is an option in the management of critical and unstable patients.
CONCLUSIONS
Complicated diaphragmatic hernia is a rare life-threatening condition. CT scan of the chest and abdomen is the gold standard for diagnosing the diaphragmatic hernia. Laparoscopic repair is the best treatment option for stable patients with complicated diaphragmatic hernias. Open repair is considered necessary in majority of unstable patients in whom Damage Control Surgery can be life-saving.
Topics: Humans; Diaphragm; Hernias, Diaphragmatic, Congenital; Tomography, X-Ray Computed; Thorax; Hernia, Hiatal; Thoracic Injuries
PubMed: 37496073
DOI: 10.1186/s13017-023-00510-x -
Digestion 2024Functional endoscopy signifies a significant advancement in gastrointestinal examination, integrating motor function assessments alongside routine endoscopy findings.... (Review)
Review
BACKGROUND
Functional endoscopy signifies a significant advancement in gastrointestinal examination, integrating motor function assessments alongside routine endoscopy findings. Traditional gastrointestinal endoscopy primarily focuses on the detection of early-stage cancer by identifying morphological changes within the gastrointestinal tract. These alterations include modifications in lumen structure, color tone, and surface patterns, which can be diagnosed using endoscopic images that assess these morphological changes. In contrast, functional endoscopy aims to dynamically evaluate the peristaltic movements of the digestive tract and the presence or movement of reflux of digestive fluids during the endoscopic procedure. It also seeks to identify morphological changes such as hiatal hernias, as observed in conventional endoscopy. Consequently, relying solely on endoscopic images proves inadequate for diagnosis, necessitating continuous observation of these dynamic movements.
SUMMARY
The endoscopic pressure study integrated system (EPSIS) serves as an exemplar of functional endoscopy. It incorporates a stress test to assess the functionality of the lower esophageal sphincter (LES) through intragastric insufflation. A crucial element of EPSIS evaluation is the identification of the scope holding sign (SHS), which signifies LES contraction. EPSIS also encompasses the observation of esophageal peristaltic waves and the auditory detection of burping, providing a comprehensive diagnostic approach while observing the sphincter from a retroflex view on the stomach side. By integrating these dynamic findings, functional endoscopy offers an efficient method for diagnosing functional gastrointestinal diseases, such as gastroesophageal reflux disease (GERD).
KEY MESSAGES
Functional endoscopy combines motor function assessments with traditional endoscopy, enhancing the diagnostic capabilities of gastrointestinal examinations. Traditional endoscopy focuses on identifying morphological changes, while functional endoscopy evaluates dynamic movements, reflux, and sphincter functionality. EPSIS exemplifies functional endoscopy, featuring a stress test and the SHS for LES contraction assessment. EPSIS provides a comprehensive approach to diagnose GERD by integrating dynamic observations.
Topics: Humans; Gastroesophageal Reflux; Endoscopy, Gastrointestinal; Esophageal Sphincter, Lower; Hernia, Hiatal; Manometry
PubMed: 38008079
DOI: 10.1159/000534831 -
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 -
Acute Medicine & Surgery 2023Traumatic intrapericardial diaphragmatic hernias are very rare; they occur when the central tendon of the diaphragm ruptures, allowing abdominal viscera to herniate into...
Traumatic intrapericardial diaphragmatic hernias are very rare; they occur when the central tendon of the diaphragm ruptures, allowing abdominal viscera to herniate into the pericardial sac, causing life-threatening cardiac tamponade. Computed tomography imaging with multiplanar reconstruction is useful in evaluating such cases.
PubMed: 37814652
DOI: 10.1002/ams2.895 -
Biochimica Et Biophysica Acta.... Apr 2024Congenital diaphragmatic hernia (CDH) represents a developmental anomaly that profoundly impacts the embryonic development of both the respiratory and cardiovascular... (Review)
Review
Congenital diaphragmatic hernia (CDH) represents a developmental anomaly that profoundly impacts the embryonic development of both the respiratory and cardiovascular systems. Understanding the influences of developmental defects, their origins, and clinical consequences is of paramount importance for further research and the advancement of therapeutic strategies for this condition. In recent years, groundbreaking studies in the fields of metabolomics and genomics have significantly expanded our knowledge regarding the pathogenic mechanisms of CDH. These investigations introduce novel diagnostic and therapeutic avenues. CDH implies a scarcity of available information within this domain. Consequently, a comprehensive literature review has been undertaken to synthesize existing data, providing invaluable insights into this rare disease. Improved comprehension of the molecular underpinnings of CDH has the potential to refine diagnostic precision and therapeutic interventions, thus potentially enhancing clinical outcomes for CDH patients. The identification of potential biomarkers assumes paramount significance for early disease detection and risk assessment in CDH, facilitating prompt recognition and the implementation of appropriate interventions. The process of translating research findings into clinical practice is significantly facilitated by an exhaustive literature review. It serves as a pivotal step, enabling the integration of novel, more effective diagnostic and therapeutic modalities into the management of CDH patients.
Topics: Pregnancy; Female; Humans; Hernias, Diaphragmatic, Congenital; Risk Assessment
PubMed: 38428682
DOI: 10.1016/j.bbadis.2024.167105 -
American Journal of Human Genetics Oct 2023Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We...
Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. Using linkage analysis and exome or genome sequencing, we found that missense variants in plastin 3 (PLS3), a gene encoding an actin bundling protein, co-segregate with disease in all families. Loss-of-function variants in PLS3 have been previously associated with X-linked osteoporosis (MIM: 300910), so we used in silico protein modeling and a mouse model to address these seemingly disparate clinical phenotypes. The missense variants in individuals with CDH are located within the actin-binding domains of the protein but are not predicted to affect protein structure, whereas the variants in individuals with osteoporosis are predicted to result in loss of function. A mouse knockin model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Both the mouse model and one adult human male with a CDH-associated PLS3 variant were observed to have increased rather than decreased bone mineral density. Together, these clinical and functional data in humans and mice reveal that specific missense variants affecting the actin-binding domains of PLS3 might have a gain-of-function effect and cause a Mendelian congenital disorder.
Topics: Adult; Humans; Male; Animals; Mice; Hernias, Diaphragmatic, Congenital; Actins; Mutation, Missense; Osteoporosis
PubMed: 37751738
DOI: 10.1016/j.ajhg.2023.09.002