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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 -
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 -
World Journal of Surgery Apr 2017Thoracoscopic diaphragmatic plication for diaphragmatic paralysis with consecutive eventration and respiratory compromise is a desirable alternative to standard...
BACKGROUND
Thoracoscopic diaphragmatic plication for diaphragmatic paralysis with consecutive eventration and respiratory compromise is a desirable alternative to standard thoracotomy. Since minimally invasive techniques usually involve suturing of the diaphragm, most surgeons use a video-assisted approach with a minithoracotomy. Herein we describe our completely thoracoscopic technique for diaphragmatic plication including outcome.
METHODS
We present our technique and experience for completely thoracoscopic diaphragmatic plication for the treatment of symptomatic diaphragmatic paralysis in six consecutive patients. The surgical technique basically consisted of stapling of the abundant diaphragm and reinforcement of the staple line using a self-locking thread. Primary outcome measure was the postoperative result (flattened diaphragm) and resolution of symptoms. Secondary outcome was improvement of lung function values 3 months after surgery.
RESULTS
Between June 2015 and March 2016, six patients have been operated for symptomatic diaphragmatic paralysis, with one of them suffering from additional transdiaphragmatic hernia. Flattening of the diaphragm was achieved in all 6 patients with resolution of their pre-existing symptoms within days after surgery and without any surgical complications. Lung function volumes measured 3 months postoperative improved markedly with an increase in FEV1 as well as FVC of 540 ml (SD ± 193 ml) and 776 ml (SD ± 121 ml), respectively.
CONCLUSIONS
In our experience, the presented technique is a safe and simple minimally invasive way to perform a completely thoracoscopic diaphragmatic plication with excellent results so far.
Topics: Aged; Aged, 80 and over; Diaphragm; Dyspnea; Female; Forced Expiratory Volume; Humans; Male; Middle Aged; Respiratory Paralysis; Thoracoscopy; Vital Capacity
PubMed: 27822722
DOI: 10.1007/s00268-016-3789-2 -
Pediatric Research Jan 2019Congenital diaphragmatic hernia (CDH) is a commonly occurring major congenital anomaly with a profound impact on neonatal mortality. The etiology of CDH is poorly... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a commonly occurring major congenital anomaly with a profound impact on neonatal mortality. The etiology of CDH is poorly understood and is complicated by multiple clinical presentations, reflecting the location and type of diaphragm defect. With the increased power of genetic screening, more genes are being associated with CDH, creating a knowledge gap between CDH-associated genes and their contribution to diaphragm embryogenesis. Our goal was to investigate CDH-associated genes and identify common pathways that may lead to abnormal diaphragm development. A comprehensive list of CDH-associated genes was identified from the literature and categorized according to multiple factors, including type of CDH. We undertook a large-scale gene function analysis using gene ontology to identify significantly enriched biological pathways and molecular functions associated with our gene set. We identified 218 CDH-associated genes. Our gene ontology analysis showed that genes representing distinct biological pathways are significantly enriched in relation to different clinical presentations of CDH. This includes retinoic acid signaling in Bochdalek CDH, myogenesis in diaphragm eventration, and angiogenesis in central tendon defects. We have identified unique genotype-phenotype relationships highlighting the major genetic drivers of the different types of CDH.
Topics: Gene Expression Regulation; Gene Ontology; Gene Regulatory Networks; Genetic Markers; Genetic Predisposition to Disease; Hernias, Diaphragmatic, Congenital; Humans; Phenotype; Signal Transduction
PubMed: 30287891
DOI: 10.1038/s41390-018-0192-8