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https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#1
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28641300/prenatal-diagnosis-of-dextrocardia-with-complex-congenital-heart-disease-using-fetal-intelligent-navigation-echocardiography-fine-and-a-literature-review
#2
Lami Yeo, Suchaya Luewan, Dor Markush, Navleen Gill, Roberto Romero
Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage of four-dimensional sonography with spatiotemporal image correlation (STIC) is that this modality can facilitate fetal cardiac examination. A novel method known as fetal intelligent navigation echocardiography (FINE) allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying intelligent navigation technology to STIC volume datasets...
June 23, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28640129/vacter-syndrome-with-situs-inversus-totalis-case-report-and-a-new-syndrome
#3
Wei Wu, Zhibao Lv, Weijue Xu, Jiangbing Liu, Wei Jia
INTRODUCTION: The association of situs inversus totalis (SIT) and VACTERL syndrome an extremely rare coincidence. PATIENTS: The patient was first diagnosed as simple SIT with lumbosacral neoplasms according to the prenatal magnetic resonance imaging (MRI) examination; however, the local hospital ignored the important to physical examination so that missed anal atresia with fistula. The patient was presented to our hospital owing to constipation for 1 week. And then, she was diagnosed as VACTER syndrome with situs inversus totalis...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28638943/elevated-serum-heat-shock-protein-70-and-liver-stiffness-reflect-hepatic-dysfunction-and-severity-in-postoperative-biliary-atresia
#4
Sittisak Honsawek, Wanvisa Udomsinprasert, Napaphat Jirathanathornnukul, Voranush Chongsrisawat, Yong Poovorawan
BACKGROUND: Biliary atresia (BA) is a severe chronic liver disease characterized by progressive obstructive cholangiopathy of biliary tract. Heat shock protein 70 (HSP70) is involved in protecting cells against a wide variety of stress and plays a protective role in tissue damage. The purpose of this study was to investigate serum HSP70 and liver stiffness in BA and determine the association of serum HSP70, liver stiffness, and outcome parameters in post-Kasai BA patients. METHODS: One hundred post-Kasai BA patients and 40 controls were enrolled...
June 21, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28636124/the-ips-scale-a-new-soft-tissue-assessment-scale-for-percutaneous-and-transcutaneous-implants-for-bone-conduction-devices
#5
Ivo J Kruyt, Rik C Nelissen, Martin L Johansson, Emmanuel A M Mylanus, Myrthe K S Hol
Percutaneous titanium implants for bone conduction devices (BCDs) have offered, since 1977, a solution for patients with hearing loss not treatable by conventional hearing aids, such as patients with chronic ear infections or microtia and/or ear canal atresia. Percutaneous implants imply a continuous breach in the mechanical defensive barrier of the skin. To compensate for this breach, immunological mechanisms in the subcutaneous tissue surrounding the implant become more active. This article is protected by copyright...
June 21, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#6
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635067/maternal-coping-with-the-prospect-of-liver-transplant-among-their-school-age-children
#7
Katsuhiro Hiratsuka, Nobue Nakamura, Naho Sato
The purpose of the current study was to describe the following: maternal coping with the prospect of becoming the living-donor liver transplant for their child; the daily lives of school-age children surviving biliary atresia with their native liver; and to explore the relationship between these individuals. Semistructured interviews were conducted with 6 school-age children surviving biliary atresia with their native liver and their mothers. The interviews were conducted from June to August 2014, and a qualitative content analysis was used...
June 2017: International Journal of Nursing Practice
https://www.readbyqxmd.com/read/28633393/outcomes-of-palliative-right-ventricle-to-pulmonary-artery-connection-for-pulmonary-atresia-with-ventricular-septal-defect%C3%A2
#8
Marien Lenoir, Margaux Pontailler, Régis Gaudin, Sébastien Gerelli, Daniel Tamisier, Damien Bonnet, Bari Murtuza, Pascal R Vouhé, Olivier Raisky
OBJECTIVES: To determine the early, intermediate and long-term outcomes of pulmonary atresia with ventricular septal defect (PA/VSD) Types I, II and III initially palliated by a right ventricle to pulmonary artery (RVPA) connection. METHODS: We performed a retrospective study from 2000 to 2014 that included 109 patients with PA/VSD who had undergone an RVPA connection (tetralogy of Fallot and PA/VSD Type IV excluded). The end-points of this strategy were adequate pulmonary artery tree post-palliation, second palliation, biventricular repair, right ventricular pressure post-biventricular repair and late reoperation...
June 15, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28632515/p4-stump-approach-for-intraoperative-portal-vein-stenting-in-pediatric-living-donor-liver-transplantation-an-innovative-technique-for-a-challenging-problem
#9
Chao-Long Chen, Yu-Fan Cheng, Viola Huang, Ting-Lung Lin, Yi-Chia Chan, Hsin-You Ou, Chee-Chien Yong, Shih-Ho Wang, Chih-Che Lin
OBJECTIVE: The aim of this study was to evaluate the utility of the P4 stump stenting approach for treating portal vein (PV) complications in pediatric living donor liver transplantation (LDLT). BACKGROUND: PV complications cause significant morbidity and mortality in pediatric LDLT. Biliary atresia in the backdrop of pathological PV hypoplasia and sclerosis heightens the complexity of PV reconstruction. The authors developed a novel approach for intraoperative PV stenting via the graft segment 4 PV stump (P4 stump) to address this challenge...
June 19, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28631687/-acquired-atresia-and-stenosis-of-the-external-acoustic-meatus
#10
D S Kondratchikov, Kh M Diab, V S Korvyakov, L I Terekhina
Acquired atresia of the external acoustic meatus is a rare pathological condition characterized by obliteration of the medial part of the external acoustic canal by a soft fibrous plug. The present article presents an overview of a series of cases of acquired atresia and stenosis of the external acoustic meatus with the description of etiology, pathogenesis, and methods for the treatment of this condition. In the majority of the cases, atresia develops at the final stage of granulation external otitis with or without an accompanying dermatological pathology...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28631351/intraoperative-acidosis-and-hypercapnia-during-thoracoscopic-repair-of-congenital-diaphragmatic-hernia-and-esophageal-atresia-tracheoesophageal-fistula
#11
Augusto Zani, Ruben Lamas-Pinheiro, Irene Paraboschi, Sebastian K King, Justyna Wolinska, Elke Zani-Ruttenstock, Simon Eaton, Agostino Pierro
BACKGROUND: Intraoperative hypercapnia and acidosis have been associated with thoracoscopic repair of both congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. AIM: The aim of the present study was to investigate whether thoracoscopic repair of congenital diaphragmatic hernia or esophageal atresia/tracheoesophageal fistula was associated with acidosis and hypercapnia in a large group of neonates, and to analyze the effects of acidosis and hypercapnia on early postoperative outcomes...
June 20, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28626977/magnetic-compression-anastomosis-for-postoperative-biliary-atresia
#12
Rei Matsuura, Takehisa Ueno, Yuko Tazuke, Natsumi Tanaka, Hiroaki Yamanaka, Yuichi Takama, Kengo Nakahata, Taku Yamamichi, Noboru Maeda, Keigo Osuga, Eigoro Yamanouchi, Hiroomi Okuyama
We report a case of successful magnetic compression anastomosis (MCA) for obstructed cyst-jejunostomy in a young woman who had undergone surgery for type 1 biliary atresia (BA) on day 78 of life. A 16-year-old girl was admitted with obstructive jaundice. Jaundice resolved with percutaneous trans-hepatic cholangiodrainage (PTCD) but contrast medium injected from the PTCD tube did not flow through the anastomosis. Magnets were placed on each side of the anastomosis, in the cyst and the jejunum, to compress the partition...
June 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28625694/the-incidence-of-chylous-ascites-after-liver-transplantation-and-the-proposal-of-a-diagnostic-and-management-protocol
#13
Toshiharu Matsuura, Yusuke Yanagi, Makoto Hayashida, Yoshiaki Takahashi, Koichiro Yoshimaru, Tomoaki Taguchi
BACKGROUND: No protocol has been established for the diagnosis and management of chylous ascites after liver transplantation (LT). In this study, we retrospectively reviewed our cases of posttransplant chylous ascites (PTCA) and aimed to propose a diagnostic and management protocol. PATIENTS AND METHODS: We retrospectively reviewed the clinical records of 96 LT recipients who underwent LT at our department. The incidence of PTCA and the associated risk factors were analyzed and our protocol for chylous ascites was evaluated...
June 11, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28625693/long-term-functional-outcomes-after-replacement-of-the-esophagus-in-pediatric-patients-a-systematic-literature-review
#14
REVIEW
Stefano Garritano, Tomoyuki Irino, Chiara Maria Scandavini, Andrianos Tsekrekos, Lars Lundell, Ioannis Rouvelas
BACKGROUND: The indications of esophageal replacement (ER) in pediatric patients include long gap esophageal atresia (LGEA), intractable post-corrosive esophageal strictures (PCES), and some rare esophageal diseases. Various conduits and procedures are currently used worldwide with a lack of consensus regarding the ideal substitute to replace the esophagus replacement. The short-term outcomes of these advanced procedures are well known; there are few data available describing long-term functional outcomes of these patients with long life expectancy...
June 8, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28624838/dental-management-of-pediatric-patients-affected-by-pulmonary-atresia-with-ventricular-septal-defect-a-scoping-review
#15
A Garrocho-Rangel, A-C Echavarría-García, M-A Rosales-Bérber, J Flores-Velázquez, A Pozos-Guillén
BACKGROUND: Congenital Heart Diseases (CHD) involves a wide range of pathological conditions, such as Pulmonary Atresia with Ventricle Septal Defect (PA/VSD). This disorder leads to the systemic circulation of oxygen-poor blood (cyanosis), with associated features and consequences in the oral cavity. MATERIAL AND METHODS: Using scoping review methodology for screening and article selection, the primary objectives of this paper were as follows: first, to pose a research question; second, to identify relevant studies in order to answer the research question; third, to select and retrieve the studies; fourth, to chart the critical data, and finally, to collate, summarize, and report the results from the most important articles on the dental management of children affected with PA/VSD...
June 18, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/28624767/effects-of-nrf1-on-steroidogenesis-and-apoptosis-in-goat-luteinized-granulosa-cells
#16
Guo-Min Zhang, Ming-Tian Deng, Zhi-Hai Lei, Yong-Jie Wan, Hai-Tao Nie, Zi-Yu Wang, Yi-Xuan Fan, Feng Wang, Yan-Li Zhang
During goat follicular development, abnormal expression of nuclear respiratory factor 1 (NRF1) in granulosa cells may drive follicular atresia with unknown regulatory mechanisms. In this study, we investigated the effects of NRF1 on steroidogenesis and cell apoptosis by overexpressing or silencing it in goat luteinized granulosa cells (LGCs). Results showed that knockdown of NRF1 expression significantly inhibited the expression of STAR and CYP19A1, which are involved in sex steroid hormones synthesis, and led to lower estrogen levels...
August 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28622972/a-patient-led-international-study-of-long-term-outcomes-of-esophageal-atresia-eat-1
#17
Evelyn Svoboda, JoAnne Fruithof, Anke Widenmann-Grolig, Graham Slater, Frederic Armand, Bernhard Warner, Simon Eaton, Paolo De Coppi, Edward Hannon
INTRODUCTION: Long term outcomes of esophageal atresia (OA) are poorly understood. The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula support groups (EAT), a collaboration of patient support groups aimed to define patient reported long term outcomes and quality of life (QoL) in a large international cohort of OA patients. METHODS: Questionnaires were designed focusing on patient/parent reported outcomes including surgical history, current symptomatology and quality of life...
June 9, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28620599/dysmotility-in-esophageal-atresia-pathophysiology-characterization-and-treatment
#18
REVIEW
Christophe Faure, Franziska Righini Grunder
Esophageal dysmotility is almost universal after esophageal atresia (EA) repair and is mainly related to the developmental anomaly of the esophagus. Esophageal dysmotility is involved in the pathophysiology of numerous symptoms and comorbidities associated with EA such as gastroesophageal reflux disease, aspiration and respiratory complications, and symptoms of dysphagia and feeding disorders. High-resolution esophageal manometry (HREM) has facilitated the characterization of the dysmotility, but there is an incomplete correlation between symptoms and manometrical patterns...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28620597/feeding-problems-and-their-underlying-mechanisms-in-the-esophageal-atresia-tracheoesophageal-fistula-patient
#19
REVIEW
Lisa Mahoney, Rachel Rosen
Feeding difficulties such as dysphagia, coughing, choking, or vomiting during meals, slow eating, oral aversion, food refusal, and stressful mealtimes are common in children with repaired esophageal atresia (EA) and the reasons for this are often multifactorial. The aim of this review is to describe the possible underlying mechanisms contributing to feeding difficulties in patients with EA and approaches to management. Underlying mechanisms for these feeding difficulties include esophageal dysphagia, oropharyngeal dysphagia and aspiration, and aversions related to prolonged gastrostomy tube feeding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28615387/screening-for-biliary-atresia-it-s-in-the-cards
#20
Richard A Schreiber, Alison Butler
No abstract text is available yet for this article.
June 2017: Canadian Family Physician Médecin de Famille Canadien
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