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Pulmonology 2019The diaphragm is the main breathing muscle and contraction of the diaphragm is vital for ventilation so any disease that interferes with diaphragmatic innervation,... (Comparative Study)
Comparative Study Review
The diaphragm is the main breathing muscle and contraction of the diaphragm is vital for ventilation so any disease that interferes with diaphragmatic innervation, contractile muscle function, or mechanical coupling to the chest wall can cause diaphragm dysfunction. Diaphragm dysfunction is associated with dyspnoea, intolerance to exercise, sleep disturbances, hypersomnia, with a potential impact on survival. Diagnosis of diaphragm dysfunction is based on static and dynamic imaging tests (especially ultrasound) and pulmonary function and phrenic nerve stimulation tests. Treatment will depend on the symptoms and causes of the disease. The management of diaphragm dysfunction may include observation in asymptomatic patients with unilateral dysfunction, surgery (i.e., plication of the diaphragm), placement of a diaphragmatic pacemaker or invasive and/or non-invasive mechanical ventilation in symptomatic patients with bilateral paralysis of the diaphragm. This type of patient should be treated in experienced centres. This review aims to provide an overview of the problem, with special emphasis on the diseases that cause diaphragmatic dysfunction and the diagnostic and therapeutic procedures most commonly employed in clinical practice. The ultimate goal is to establish a standard of care for diaphragmatic dysfunction.
Topics: Diaphragm; Diaphragmatic Eventration; Fluoroscopy; Humans; Microsurgery; Phrenic Nerve; Radiography; Respiration, Artificial; Respiratory Function Tests; Respiratory Paralysis; Transcutaneous Electric Nerve Stimulation; Ultrasonography
PubMed: 30509855
DOI: 10.1016/j.pulmoe.2018.10.008 -
Multimedia Manual of Cardiothoracic... Sep 2020Diaphragmatic paralysis with subsequent eventration and respiratory compromise has a huge impact on the quality of life of affected patients. Many different surgical...
Diaphragmatic paralysis with subsequent eventration and respiratory compromise has a huge impact on the quality of life of affected patients. Many different surgical approaches for correcting this problem have been described in the past, using both transabdominal and transthoracic pathways. Either way, since the procedure in general requires suturing of the diaphragm, minimally invasive techniques have only been adopted very slowly and most thoracic surgeons nowadays still use a minithoracotomy, even when adopting a video-assisted approach. We have developed a safe and simple completely thoracoscopic technique for diaphragmatic plication, and in this video tutorial we demonstrate our technique.
Topics: Diaphragm; Humans; Minimally Invasive Surgical Procedures; Respiratory Paralysis; Thoracic Surgery, Video-Assisted
PubMed: 33301244
DOI: 10.1510/mmcts.2020.054 -
American Journal of Medical Genetics.... Aug 2021Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU),... (Review)
Review
Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU), skeletal, and central nervous system (CNS) abnormalities. Although more than 100 cases have been reported in the literature, a comprehensive review has not been performed nor have clinical guidelines been established. Therefore, we describe the clinical features of 16 additional patients, review features of previously reported individuals, and suggest clinical guidelines. Our findings expand the clinical phenotype of T9M, including novel features of amblyopia, astigmatism, corectopia of pupil, posterior embryotoxon, and diaphragmatic eventration. Most patients had prenatal and perinatal issues, particularly from respiratory, growth, and feeding standpoints. Although small birth parameters were common, long-term growth trends varied widely. An association with advanced parental ages was also identified. The spectrum of growth and development was wide, ranging from nonverbal patients to those able to participate in educational programs with age-appropriate peers. The severity of clinical outcomes was unrelated to blood lymphocyte mosaicism levels. Microarray analysis had a higher diagnostic rate compared to standard karyotype analysis and should be utilized if this diagnosis is suspected. Future longitudinal studies will be key to monitor long-term outcomes of individuals with T9M and determine best practices for clinical management.
Topics: Adolescent; Adult; Brain; Child; Child, Preschool; Chromosomes, Human, Pair 9; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Growth Charts; Humans; Infant; Infant, Newborn; Male; Mosaicism; Phenotype; Trisomy; Uniparental Disomy; Young Adult
PubMed: 33969943
DOI: 10.1002/ajmg.a.62251 -
Archivos Argentinos de Pediatria Dec 2014
Topics: Diaphragmatic Eventration; Humans; Infant; Male
PubMed: 25362919
DOI: 10.5546/aap.2014.577 -
European Journal of Pediatrics Jun 2020Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic...
Congenital diaphragmatic eventration (CDE) and congenital diaphragmatic hernia (CDH) with or without hernia sac are three different types of congenital diaphragmatic malformations, which this study evaluates. All surgically treated patients with CDE or Bochdalek type CDH between 2000 and 2016 were included in this retrospective analysis. Demographics, CDH-characteristics, treatment, and clinical outcome were evaluated. In total, 200 patients were included. Patients with an eventration or hernia sac had no significant differences and were compared as patients without a true defect to patients with a true defect. The 1-year survival of patients with a true defect was significantly lower than patients with no true defect (76% versus 97%, p = 0.001). CDH with no true defect had significantly better short-term outcomes than CDH with true defect requiring patch repair. However, at 30 days, they more often required oxygen supplementation (46% versus 26%, p = 0.03) and had a higher recurrence rate (8% versus 0%, p = 0.006) (three eventration and two hernia sac patients). Conclusion: Patients without a true defect seem to have a more similar clinical outcome than CDH patients with a true defect, with a better survival. However, the recurrence rate and duration of oxygen supplementation at 30 days are higher than CDH patients with a true defect.What is Known:• Congenital diaphragmatic hernia with or without hernia sac and congenital diaphragmatic eventration (incomplete muscularization) are often treated similarly.• Patients with hernia sac and eventration are thought to have a relatively good outcome, but exact numbers are not described.What is New:• Congenital diaphragmatic eventration and patients with hernia sac seem to have a more similar clinical outcome than Bochdalek type CDH with a true defect.• Patients without a true defect (eventration or hernia sac) have a high recurrence rate.
Topics: Diagnosis, Differential; Diaphragmatic Eventration; Female; Follow-Up Studies; Hernias, Diaphragmatic, Congenital; Herniorrhaphy; Humans; Infant, Newborn; Male; Prognosis; Recurrence; Retrospective Studies; Survival Analysis
PubMed: 31965300
DOI: 10.1007/s00431-020-03576-w -
Cureus Apr 2022Intractable hiccups are a rare yet debilitating pathology with a broad differential and often indicate a more serious underlying pathology, which can range from...
Intractable hiccups are a rare yet debilitating pathology with a broad differential and often indicate a more serious underlying pathology, which can range from neoplasms to structural abnormalities. In this case report, we present a 64-year-old male with seven months of intractable hiccups determined to be caused by eventration of the right hemidiaphragm. The patient was treated with baclofen to treat the hiccups pharmacologically. He was also prescribed voice therapy to establish rescue breathing techniques and reduce laryngospasm. Finally, he was referred to thoracic surgery for further evaluation and potential surgical intervention should his diaphragmatic eventration worsen or cause hypoxemia. To our knowledge, this is the first reported case of an association between diaphragmatic eventration and intractable hiccups. It is important to highlight this addition to the broad differential of intractable hiccups and to emphasize an interdisciplinary approach to workup and treatment of intractable hiccups.
PubMed: 35637802
DOI: 10.7759/cureus.24430 -
Annals of the Royal College of Surgeons... Sep 2017Diaphragmatic eventration is an uncommon condition, usually discovered incidentally in asymptomatic patients. Even in symptomatic patients, the diagnosis can be... (Review)
Review
Diaphragmatic eventration is an uncommon condition, usually discovered incidentally in asymptomatic patients. Even in symptomatic patients, the diagnosis can be challenging and should be considered among the differential diagnoses of diaphragmatic hernia. The correct diagnosis can often only be made in surgery. We describe the case of a 31-year-old patient with diaphragmatic eventration that was misdiagnosed as a recurrent congenital diaphragmatic hernia and review the corresponding literature.
Topics: Adult; Diagnosis, Differential; Diagnostic Errors; Diaphragmatic Eventration; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Male; Radiography; Recurrence; Tomography, X-Ray Computed
PubMed: 28853592
DOI: 10.1308/rcsann.2016.0342