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Seminars in Perinatology Feb 2020Congenital diaphragmatic hernia (CDH) is a common birth defect that is associated with significant morbidity and mortality, especially when associated with additional... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a common birth defect that is associated with significant morbidity and mortality, especially when associated with additional congenital anomalies. Both environmental and genetic factors are thought to contribute to CDH. The genetic contributions to CDH are highly heterogeneous and incompletely defined. No one genetic cause accounts for more than 1-2% of CDH cases. In this review, we summarize the known genetic causes of CDH from chromosomal anomalies to individual genes. Both de novo and inherited variants contribute to CDH. Genes causing CDH are increasingly identified from animal models and from genomic strategies including exome and genome sequencing in humans. CDH genes are often transcription factors, genes involved in cell migration or the components of extracellular matrix. We provide clinical genetic testing strategies in the clinical evaluation that can identify a genetic cause in up to ∼30% of patients with non-isolated CDH and can be useful to refine prognosis, identify associated medical and neurodevelopmental issues to address, and inform family planning options.
Topics: Cell Movement; Chromosome Aberrations; DNA Copy Number Variations; Extracellular Matrix; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Mutation; Transcription Factors; Exome Sequencing; Whole Genome Sequencing
PubMed: 31443905
DOI: 10.1053/j.semperi.2019.07.008 -
African Journal of Paediatric Surgery :... 2021The descriptive clinical study was conducted to analyse the clinical profile as well as the outcome of congenital right diaphragmatic defects among children including... (Observational Study)
Observational Study
BACKGROUND
The descriptive clinical study was conducted to analyse the clinical profile as well as the outcome of congenital right diaphragmatic defects among children including neonates in a tertiary care referral neonatal and paediatric centre in southern Karnataka, India.
MATERIALS AND METHODS
This retrospective and prospective observational clinical study was conducted from January 2005 to August 2019, over a period of 14.7 years in a tertiary care referral neonatal and paediatric centre. Clinical characteristics and risk factors of 33 children including neonates admitted and diagnosed with congenital right diaphragmatic defects were assessed both pre- and postoperatively. Neonates and children with acquired right diaphragmatic hernia defects and the left-sided diaphragmatic defects were not included in this clinical study.
RESULTS
For statistical as well as clinical analysis, 33 study subjects were grouped into four groups, depending on the pre-operative and intraoperative findings as well as on their final diagnosis. Group I comprised right congenital diaphragmatic hernia (RCDH) (n = 18), Group II comprised RCDH with sac (n = 6), the babies with diagnosis of right diaphragmatic eventration were included in Group III (n = 7), whereas babies with other right-sided diaphragmatic hernia defects diagnosis were included in Group IV (n = 2).
CONCLUSION
Right-sided congenital diaphragmatic defects, though rare, do carry excellent survival if referred early and managed in a tertiary care neonatal and paediatric centre as that of left diaphragmatic defects.
Topics: Child; Hernias, Diaphragmatic, Congenital; Humans; India; Infant; Infant, Newborn; Retrospective Studies
PubMed: 34341195
DOI: 10.4103/ajps.AJPS_29_20 -
Journal of B.U.ON. : Official Journal... 2019Diaphragmatic hernia following an esophagectomy for esophageal cancer (EC) can be both an early and late complication. The esophageal hiatus within the diaphragm is... (Review)
Review
PURPOSE
Diaphragmatic hernia following an esophagectomy for esophageal cancer (EC) can be both an early and late complication. The esophageal hiatus within the diaphragm is disrupted during the operation. However, the incidence of Post-Esophagectomy Diaphragmatic Hernia (PEDH) is unknown. PEDH can be life-threatening and surgical treatment is challenging. However, all PEDH do not require surgery. The rate of EC diagnosis is rising. Therefore, esophageal surgery, particularly esophagectomy, is gradually increasing. Undoubtedly, the numbers of PEDH increase as well.
METHODS
This review describes the presentation and diagnosis of PEDH after surgery for esophageal malignancy, as well as the management options for PEDH.
RESULTS
Fifteen papers regarding PEDH have been published. There are many different surgical approaches to complete an esophagectomy, while there are different approaches to repair PEDH.
CONCLUSION
Upper GI surgeons need to have an index of suspicion for PEDH. They must investigate and operate these patients if this complication develops, since an immediate surgery has a high mortality and poor outcome.
Topics: Esophageal Neoplasms; Esophagectomy; Hernia, Diaphragmatic; Herniorrhaphy; Humans; Risk Factors; Treatment Outcome
PubMed: 31786839
DOI: No ID Found -
Veterinary Research Forum : An... 2022Diaphragmatic rupture is introduced as one of the most common injuries occurring in small animals. In our retrospective report, 14 cats with a mean age of 12 months...
Diaphragmatic rupture is introduced as one of the most common injuries occurring in small animals. In our retrospective report, 14 cats with a mean age of 12 months (male = 8, female = 6) that underwent diaphragmatic herniorrhaphy were studied. The data included the following: age, sex, breed, and clinical signs. The cause of diaphragmatic hernia, diaphragmatic rupture area, herniated organs, concomitant injuries, and survival rate after surgical treatment were detailed. The cats included 11 domestic shorthair (DSH) and three Persian. Trauma was the most common cause of rupture in these patients and one 3-month old Persian cat had peritoneopericardial diaphragmatic hernia (PPDH). The most common clinical sign was dyspnea. Concurrent disorders included fractures of pelvic, long bones and ribs and mild pneumothorax. One of the five cats survived with concurrent disorders. In this study, the frequency of rupture sites was as follows: the right-side (11 cats), left-side (2 cats), and dorsal side of diaphragm in one case. The most frequently inserted organ into the chest was liver. In our study, the survival rate after surgical treatment was 71.00%. In conclusion, we suggested that stabilization of the patient was important before herniorrhaphy. Based on our study, the concurrent damages affected the survival rate.
PubMed: 36686864
DOI: 10.30466/vrf.2022.138996.3092 -
Annals of the Royal College of Surgeons... Jun 2022Diaphragmatic hiatal hernia is a potential complication of oesophagectomy in cancer patients. Over the past decades, laparoscopy has become the preferred approach to...
Diaphragmatic hiatal hernia is a potential complication of oesophagectomy in cancer patients. Over the past decades, laparoscopy has become the preferred approach to repairing this condition due to the reduced morbidity, faster recovery and shorter hospital stay when compared with traditional open surgery. The development of robotic technology has added to the benefits of minimally invasive approaches, offering potential technical advantages and overcoming some limitations of traditional laparoscopic techniques when performing complex procedures. We present the first report of a robotic post-oesophagectomy hiatal hernia repair.
Topics: Esophagectomy; Hernia, Hiatal; Herniorrhaphy; Humans; Laparoscopy; Robotic Surgical Procedures; Robotics
PubMed: 34730425
DOI: 10.1308/rcsann.2021.0244 -
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 -
European Journal of Pediatrics Feb 2021Early reports have suggested survival benefits associated with a hernia sac in congenital diaphragmatic hernia (CDH). However, these studies have included only small... (Review)
Review
Early reports have suggested survival benefits associated with a hernia sac in congenital diaphragmatic hernia (CDH). However, these studies have included only small subsets of patients. This systematic review aimed to evaluate differences in outcomes of CDH newborns with and without a hernia sac. PubMed and Embase databases were searched using relevant key terms. Papers were independently reviewed by two authors with final selection approved by the senior author. Original search retrieved 537 papers; the final review included 8 studies (n = 837 patients). There were 168 CDH patients (20%) with a hernia sac with an overall survival of 93% vs 73% for CDH newborns without a sac (p < 0.001). Twenty-three percent of patients with a CDH sac required diaphragm patch repair vs 44% patients without a sac (p < 0.001). Pulmonary hypertension was manifested in 44% of CDH babies with a hernia sac vs 64% without a sac (p < 0.001). Three studies compared ECMO requirement: 15% with a hernia sac and 34% without sac, p < 0.001.Conclusion: This study shows significant survival benefits in newborns associated with presence of a CDH sac. This may be likely related to these infants having more favourable physiology with less severe pulmonary hypertension and/or smaller anatomical defects requiring primary closure only. What is Known: • Early reports have suggested survival benefits associated with a hernia sac in CDH. • Previous studies have included only a small number of patients. What is New: • A systematic review of published studies clearly shows that CDH newborns with a hernia sac have better overall survival outcomes and less severe pulmonary hypertension. • ECMO utilization and patch repair were also less often required in newborns with a hernia sac.
Topics: Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Retrospective Studies
PubMed: 32808134
DOI: 10.1007/s00431-020-03779-1 -
The Journal of Pediatrics Sep 2022
Topics: Genetic Testing; Hernias, Diaphragmatic, Congenital; Humans
PubMed: 35667445
DOI: 10.1016/j.jpeds.2022.05.059 -
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 -
The Pan African Medical Journal 2023
Topics: Adult; Humans; Hernias, Diaphragmatic, Congenital
PubMed: 37013215
DOI: 10.11604/pamj.2023.44.26.38571