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congenital diaphragmatic eventration

Jun Sun, Angela J McGillivray, Jason Pinner, Zhihui Yan, Fengxia Liu, Drago Bratkovic, Elizabeth Thompson, Xiuxiu Wei, Huifeng Jiang, Asan, Maya Chopra
BACKGROUND: Asparagine Synthetase Deficiency (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, encephalopathy and progressive cerebral atrophy. To date, seven families and seven missense mutations in the ASNSD disease causing gene, ASNS, have been published. METHODS: We report two further affected infant sisters from a consanguineous Indian family, who in addition to the previously described features had diaphragmatic eventration...
July 27, 2016: JIMD Reports
Shyam Sathanandam, T K Susheel Kumar, Alexander Feliz, Christopher J Knott-Craig
We report a case of an infant who was postnatally diagnosed with hypoplastic left heart syndrome and an intact atrial septum who underwent emergent atrial decompression followed by the Norwood operation. She was also found to have a congenital diaphragmatic hernia on the left side and a congenital eventration of the right diaphragm, both requiring surgical repair. She was later found to have an anomalous origin of the left circumflex coronary artery from the right pulmonary artery that was ligated at the time of the bilateral bidirectional Glenn operation...
July 2016: Annals of Thoracic Surgery
Jun Fujishiro, Tetsuya Ishimaru, Masahiko Sugiyama, Mari Arai, Keisuke Suzuki, Hiroshi Kawashima, Tadashi Iwanaka
Owing to recent advances in minimally invasive surgery (MIS), laparoscopic and thoracoscopic surgery have been gradually introduced for use in neonates and infants. This review focuses on two popular MIS procedures for diaphragmatic diseases in neonates and infants: congenital diaphragmatic hernia (CHD) repair and plication for diaphragmatic eventration. While several advantages of MIS are proposed for CDH repair in neonates, there are also some concerns, namely intraoperative hypercapnia and acidosis and a higher recurrence rate than open techniques...
July 2016: Surgery Today
Mohamed Moneer ElSaegh, Nur Ismail, Joel Dunning
Elevated diaphragm can be due to diaphragmatic eventration or diaphragm paralysis. Diaphragm paralysis is a rare condition that can be congenital or acquired. Acquired diaphragmatic paralysis can result from injury to the phrenic nerve. Subsequently, there is loss of contractility of the diaphragm muscle leading to progressive atrophy and, hence, distension of the dome of the diaphragm leading to elevated right, left, or both copula of the diaphragm. Diaphragm plication aims to return the abdominal contents back to their normal position and allow for greater lung expansion by reducing the abundant diaphragmatic surface...
April 2016: Surgical Technology International
Harun Arslan, Cengiz Aydogan, Cihan Orcen, Edip GonIllu
Thoracic ectopic kidney is a rare developmental anomaly that is the least frequent one among all forms of ectopic kidneys. The condition is generally asymptomatic. If a kidney image is missing on one side in renalor pelvic region in sonographic examination, the possibility of thoracic ectopic kidney should be taken into consideration. For final diagnosis, chest radiography and thorax computerised tomography should be obtained. We herein report a rare case of intra-thoracic kidney accompanied by diaphragm eventration...
March 2016: JPMA. the Journal of the Pakistan Medical Association
Fikret Halis, Akin Soner Amasyali, Aysel Yucak, Turan Yildiz, Ahmet Gokce
Abdominal trauma is responsible for most genitourinary injuries. The incidence of renal artery injury and intrathoracic kidney is quite low in patients who present with blunt trauma experiencing damage. There are four defined etiologies for intrathoracic kidney, which include real intrathoracic ectopic kidney, eventration of the diaphragm, congenital diaphragmatic herniation, and traumatic diaphragmatic rupture. The traumatic intrathoracic kidney is an extremely rare case. We presented intrathoracic kidney case after traumatic posterior diaphragmatic rupture...
2015: Case Reports in Urology
Eitan Podgaetz, Ilitch Diaz, Rafael Santiago Andrade
Introduction Diaphragmatic eventration is a congenital defect of the muscular portion of a hemidiaphragm that eventually leads to hemidiaphragmatic elevation and dysfunction. The clinical diagnosis of diaphragmatic eventration or diaphragmatic paralysis may be indistinguishable and diaphragmatic plication is the treatment of choice for both conditions. Discussion We review the indications, patient selection, and surgical techniques for diaphragmatic plication. We explain our preferred technique and guide the reader step by step on our approach...
December 31, 2015: Thoracic and Cardiovascular Surgeon
Ashraf Alshorbagy, Yasser Mubarak
BACKGROUND: To evaluate our experience of early surgical plication for diaphragmatic eventration (DE) in infancy and childhood. METHODS: This study evaluated infants and children with symptomatic DE who underwent plication through an open transthoracic approach in our childhood development department between January 2005 and December 2012. Surgical plication was performed in several rows using polypropylene U-stitches with Teflon pledgets. RESULTS: The study included 12 infants and children (7 boys and 5 girls) with symptomatic DE (9 congenital and 3 acquired)...
October 2015: Korean Journal of Thoracic and Cardiovascular Surgery
Ali Ghribi, Aicha Bouden, Mariem Braiki, Asma Jabloun, Nada Sghairoun, Manef Gasmi, Mourad Hamzaoui
BACKGROUND: Diaphragmatic eventration (ED) is a rare anomaly defined by a permanent elevation of a hemidiaphragm without defects. Clinical manifestations are diverse, ranging from asymptomatic to life-threatening respiratory distress. The aim of this study is to report our experience of management of eight children with ED over the past 15 years. METHODS: A retrospective study was conducted involving 8 infants and children with ED managed at the department of pediatric surgery of Tunis Children's Hospital...
February 2015: La Tunisie Médicale
Guo-qing Cao, Shao-tao Tang, Tajammool Hussein Aubdoollah, Li Yang, Shuai Li, Hai-yan Lei, Xi Zhang, Kang Li, Xin-xing Wang, Xian-cai Xiang
PURPOSE: To report our technique and experiences in the laparoscopic diaphragmatic hemiplication (LDHP) in children with acquired diaphragmatic eventration after congenital heart surgery. SUBJECTS AND METHODS: Between October 2007 to December 2013, 3498 children with congenital heart disease underwent cardiac surgery in our hospital, and 40 (1.14%) of them had unilateral diaphragmatic elevation on postoperative chest X-ray (mean elevation, 2.5 ± 0.26 intercostal spaces [ICS]) and were diagnosed as having diaphragmatic eventration due to diaphragmatic hemiparesis as a result of phrenic nerve injury...
October 2015: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Leonor Alamo, François Gudinchet, Reto Meuli
Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero...
December 2015: Pediatric Radiology
Soumitra Saha, Harshjeet Singh Bal, Sudipta Sen
Rupture of the diaphragm may be traumatic or spontaneous. A spontaneous rupture occurring in a congenital eventration of the diaphragm is extremely rare. Only one such case has been reported previously. We report a case of a 5-month-old male infant who presented with acute life-threatening respiratory distress secondary to spontaneous rupture of a congenital diaphragmatic eventration.
2015: BMJ Case Reports
Katrin B Zahn, Sabrina Scherf, Thomas Schaible, Lucas M Wessel, Cornelia I Hagl
BACKGROUND: The coexistence of congenital diaphragmatic hernia (CDH) with esophageal atresia (EA) has only been reported occasionally in literature. Series of patients from a single institution with comparison of different postnatal therapeutic approaches have not been reported. We describe our management in this unique cohort of patients and discuss the procedures that can lead to successful outcomes in this association of congenital anomalies. METHODS: The surgical approaches and outcome of six neonates with CDH associated with EA and distal tracheo-esophageal fistula (TEF) are discussed...
August 2015: Journal of Pediatric Surgery
Shengde Wu, Na Zang, Jin Zhu, Zhengxia Pan, Chun Wu
OBJECTIVE: This study sought to summarize the diagnostic and treatment aspects of congenital diaphragmatic eventration (CDE) in children by retrospectively analyzing their medical records to identify and understand the complications of CDE, its treatment, and to evaluate the long-term outcomes of diaphragmatic plication. METHODS: The medical records of children who received treatment for CDE from January 2000 to December 2011 at the Children's Hospital of Chongqing Medical University, China were analyzed...
July 2015: Journal of Pediatric Surgery
Syed Zahid Ali Shah, Shahbaz Ali Khan, Amir Bilal, Manzoor Ahmad, Gul Muhammad, Khalid Khan, Muhammad Amjad Khan
BACKGROUND: Eventration of diaphragm is a congenital condition in which there is absence of muscle fibers in the diaphragm while maintaining all the anatomical attachments normally. Surgical treatment is warranted in symptomatic patients so as to reduce the abnormal ascent of diaphragm. The present study was conducted to analyse the perioperative outcome of thoracotomy in adult patients with diaphragmatic eventration. METHODS: This descriptive case series was carried out in Cardiothoracic Surgery-Unit, Postgraduate Medical Institute, Lady Reading Hospital, Peshawar, Pakistan...
October 2014: Journal of Ayub Medical College, Abbottabad: JAMC
A Montes Arjona, T Gavela Pérez, G Pérez Tejerizo, G Del-Río Camacho
No abstract text is available yet for this article.
July 2015: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Giorgio Bolino, Lorenzo Gitto, Serenella Serinelli, Aniello Maiese
Congenital diaphragmatic hernia is a congenital malformation of the diaphragm, resulting in the herniation of the abdominal organs into the thoracic cavity. The most common types of congenital diaphragmatic hernia are Bochdalek hernia (postero-lateral hernia), Morgagni hernia (anterior defect), and diaphragm eventration (abnormal displacement of part or all of an otherwise intact diaphragm into the chest cavity). Congenital diaphragmatic hernia is a life-threatening pathology in infants, and a major cause of death due to pulmonary hypoplasia and pulmonary hypertension...
March 2015: Medico-legal Journal
Jun Fujishiro, Tetsuya Ishimaru, Masahiko Sugiyama, Mari Arai, Chizue Uotani, Mariko Yoshida, Kyohei Miyakawa, Tomo Kakihara, Tadashi Iwanaka
OBJECTIVE: The aim of this study was to clarify the role of thoracoscopic plication for diaphragmatic eventration after surgery for congenital heart disease (CHD) in children. PATIENTS AND METHODS: We retrospectively reviewed the medical charts of pediatric patients who had undergone thoracoscopic plication of diaphragmatic eventration after surgery for CHD between 2008 and 2013 at our department. RESULTS: Five patients were identified during the study period...
April 2015: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Jeik Byun, Hyun Young Kim, Seung Yeon Noh, Soo Hong Kim, Sung Eun Jung, Seong Cheol Lee, Kwi Won Park
AIM: To determine the etiology and prognostic factors for neonatal gastric perforation (NGP), a rare but life-threatening disease. METHODS: Between 1980 and 2011, nine patients underwent surgical intervention for NGP at Seoul National University Children's Hospital. The characteristics and prognosis of the patients were retrospectively analyzed. RESULTS: Among the nine patients, three (33.3%) were preterm babies and five (55.5%) had associated anomalies, which included diaphragmatic eventration (n = 2), congenital diaphragmatic hernia, esophageal atresia with tracheoesophageal fistula, and antral web...
August 27, 2014: World Journal of Gastrointestinal Surgery
Kazuhiro Takahashi, Akira Miyake, Mami Nakayashiro
Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation...
June 2014: Pediatrics International: Official Journal of the Japan Pediatric Society
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