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Congenital thoracic malformation

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https://www.readbyqxmd.com/read/29447895/total-congenital-sternal-cleft-isolated-in-a-newborn-of-20-days-rare-case
#1
Dounia Basraoui, Badia Bannar, Mohamed Ouladsaiad, Hicham Jalal
Sternal clefts are rare malformations, especially in their complete form, which results from a lack of fusion of the sternal bars, which is normally done at the 9th week of intra uterine life. The incomplete form is often associated with other malformations of the chest wall, or falling within the framework of a polymalformative syndrome, the diagnosis is easy, being done with the inspection and the palpation, the paraclinical examinations are useful for confirming the diagnosis. We report the case of a total congenital sternal cleft isolated in an asymptomatic 20-day-old newborn...
March 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29419953/-the-role-of-fetal-magnetic-resonance-imaging-in-the-study-of-congenital-diaphragmatic-hernia
#2
V Núñez, M Romo, J L Encinas, A Bueno, B Herrero, E Antolín, L Martínez, M López Santamaría
INTRODUCTION AND OBJECTIVES: Different echographic and fetal magnetic resonance (MRI) measurements have been described in the diagnosis of associated malformations and the prognosis of congenital diaphragmatic hernia (CDH). We have reviewed our experience searching for useful isolated or combined parameters and how MRI can complement ultrasound. MATERIAL AND METHODS: We evaluated 29 fetuses with CDH. We examined ultrasonography: Lung to Head (LHR o/e) and in MRI: ipsilateral lung volume (IPV) and total expressed as percentage of observed / expected lung volume (VPT o/e) and percentage of herniated liver (PHH)...
February 1, 2018: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29349422/hybrid-management-of-a-ruptured-right-subclavian-artery-aneurysm-dissection
#3
David Drullinsky, Heather Gill, Jason P Bayne, Jean-Francois Morin, Daniel Obrand
Aberrant right subclavian artery is the most common congenital malformation of the aortic arch (0.4%-2.0%). Aneurysms of aberrant subclavian arteries are extremely rare. This results in little experience with their treatment. We describe a case of a patient who presented to the emergency department with a dissection of an aberrant right subclavian artery that later progressed to rupture. Besides hemodynamic instability, this caused an acute superior vena cava syndrome, making airway control difficult. In the operating room, we obtained proximal control through thoracic endovascular aortic repair; median sternotomy was performed for distal control and evacuation of massive hemomediastinum...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29346529/echocardiographic-criteria-to-detect-unicuspid-aortic-valve-morphology
#4
Sebastian Ewen, Irem Karliova, Petra Weber, Stephan H Schirmer, Hashim Abdul-Khaliq, Jakob Schöpe, Felix Mahfoud, Hans-Joachim Schäfers
Aims: Unicuspid aortic valve (UAV) is a rare congenital malformation associated with severe aortic stenosis or regurgitation. This study aimed to systematically determine echocardiographic criteria to identify UAV. Methods and results: All patients underwent a preoperative baseline examination, including echocardiography. A total of 69 patients with intraoperatively confirmed UAV underwent an aortic valve repair procedure between August 2001 and May 2011. To compare the findings of UAV cases with those of other valve morphologies, we examined 99 consecutive patients with a bicuspid aortic valve (BAV) and 103 consecutive patients with a tricuspid aortic valve (TAV) undergoing isolated aortic valve surgery before May 2016...
January 15, 2018: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29321443/a-new-arena-in-cardiac-surgery-pediatric-coronary-artery-bypass-surgery
#5
Soichiro Kitamura
Prior to the 1970s, pediatric coronary artery bypass surgery (PCABS) was seldomly performed due to the lack of compelling surgical indications. The advent of coronary sequelae secondary to Kawasaki disease (KD) and the occurrence of coronary artery complications due to newly developed procedures, such as the arterial switch operation and early repair for intrinsic congenital coronary malformations, necessitated the development of PCABS. Because children grow rapidly and their life expectancy is very long, with increasing exercise capability requirements, the strategy for PCABS should differ from that for bypass surgery in adults...
2018: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29312721/retrospective-review-of-the-diagnosis-and-treatment-of-pulmonary-sequestration-in-28-patients-surgery-or-endovascular-techniques
#6
Shi-Xin Zhang, Hai-Dong Wang, Kang Yang, Wei Cheng, Wei Wu
Background: Pulmonary sequestration (PS) is a rare congenital pulmonary malformation. In this study, we aimed to retrospect and evaluate the diagnosis, treatment, and outcomes of PS in 28 patients at our institute. Methods: The files of 28 patients with PS who were treated with surgery (21 cases) or endovascular intervention (7 cases) between May 2005 and June 2016 from a single institute were retrospectively reviewed. The following data of all patients were analyzed: age, sex, clinical symptoms, diagnostic methods, operative techniques, and treatment outcomes...
December 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29302380/a-case-of-fatal-pulmonary-hypoplasia-with-congenital-diaphragmatic-hernia-thoracic-myelomeningocele-and-thoracic-dysplasia
#7
Ai Ito, Hideshi Fujinaga, Sachiko Matsui, Kumiko Tago, Yuka Iwasaki, Shuhei Fujino, Junko Nagasawa, Shoichiro Amari, Masao Kaneshige, Yuka Wada, Shigehiro Takahashi, Keiko Tsukamoto, Osamu Miyazaki, Takako Yoshioka, Akira Ishiguro, Yushi Ito
Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care...
October 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29249976/thoracic-aortic-aneurysm-development-in-patients-with-bicuspid-aortic-valve-what-is-the-role-of-endothelial-cells
#8
REVIEW
Vera van de Pol, Kondababu Kurakula, Marco C DeRuiter, Marie-José Goumans
Bicuspid aortic valve (BAV) is the most common type of congenital cardiac malformation. Patients with a BAV have a predisposition for the development of thoracic aortic aneurysm (TAA). This pathological aortic dilation may result in aortic rupture, which is fatal in most cases. The abnormal aortic morphology of TAAs results from a complex series of events that alter the cellular structure and extracellular matrix (ECM) composition of the aortic wall. Because the major degeneration is located in the media of the aorta, most studies aim to unravel impaired smooth muscle cell (SMC) function in BAV TAA...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29246660/-contribution-of-computer-aided-design-for-the-conception-of-custom-made-implants-in-pectus-excavatum-surgical-treatment-experience-of-the-nantes-plastic-surgery-unit
#9
H Tilliet Le Dentu, U Lancien, O Sellal, F Duteille, P Perrot
INTRODUCTION: Pectus excavatum is the most common congenital chest malformation and is a common reason for consultation in plastic surgery. Our attitude is most often a filling of the depression with a custom-made silicone prosthesis. The objective of this work was to evaluate the interest of computer-aided design (CAD) of implants compared to the conventional plaster molds method. PATIENTS AND METHODS: We have collected all the cases of custom-made silicone implants to treat funnel chests in our plastic surgery department...
December 12, 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/29207383/thoracic-changes-after-full-laser-ablation-of-the-feeding-artery-in-fetuses-with-bronchopulmonary-sequestration
#10
Rogelio Cruz-Martínez, Belén Nieto-Castro, Miguel Martínez-Rodríguez, Alma Gámez-Varela, Edgar Ahumada-Angulo, Jonahtan Luna-García, Maria José Pineda-Pérez, Carlos Rebolledo-Fernández
OBJECTIVE: To assess longitudinal intrathoracic changes after fetal laser surgery in fetuses with bronchopulmonary sequestration (BPS) with hydrops and/or hydrothorax. STUDY DESIGN: The presence of intrafetal fluid effusions, the lung mass volume ratio (congenital pulmonary airway malformation volume ratio [CVR]), and the observed/expected lung-to-head circumference ratio (O/E-LHR) of both lungs were evaluated in a cohort of BPS fetuses with hydrops and/or hydrothorax treated with full laser ablation of the feeding artery (FLAFA)...
December 6, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29201481/cystic-lymphangioma-of-the-chest-wall-in-a-5-year-old-male-patient-a-rare-and-atypical-localization-a-case-report-and-comprehensive-review-of-the-literature
#11
Dimitrios Patoulias, Ioannis Patoulias, Christos Kaselas, Maria Kalogirou, Chatzopoulos Kyriakos, Farmakis Konstantinos, Thomas Feidantsis, Papacrivou Eleni
Lymphangioma is a benign congenital malformation. The extremely rare and atypical localization of a lymphangioma in the chest wall was the real motive for the present case study. A 5-year-old boy was admitted to the Emergency Department of the 1st Department of Pediatric Surgery, Aristotle University of Thessaloniki, due to the presence of a mildly painful swelling in the left lateral chest wall, which was first noticed three months ago, after a blunt injury during sport. Physical examination revealed the presence of a palpable, spherical, painful, nut-sized subcutaneous lesion in the left lateral chest wall, respectively, with the anterior axillary line, at the height of the 6th to 7th intercostal space...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29174089/uncommon-runs-of-homozygosity-disclose-homozygous-missense-mutations-in-two-ciliopathy-related-genes-spag17-and-wdr35-in-a-patient-with-multiple-brain-and-skeletal-anomalies
#12
Carlos Córdova-Fletes, Luis E Becerra-Solano, Martha M Rangel-Sosa, Ana María Rivas-Estilla, Kame Alberto Galán-Huerta, Rocío Ortiz-López, Augusto Rojas-Martínez, Clara I Juárez-Vázquez, José E García-Ortiz
We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. SPAG17 is essential for the function and structure of motile cilia, while WDR35 belongs to the same intraflagellar transport (IFT) gene family whose protein products are part of functional IFT A and B complexes...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29147966/polyamine-concentration-is-increased-in-thoracic-ascending-aorta-of-patients-with-bicuspid-aortic-valve
#13
Amalia Forte, Mario Grossi, Ciro Bancone, Marilena Cipollaro, Marisa De Feo, Per Hellstrand, Lo Persson, Bengt-Olof Nilsson, Alessandro Della Corte
Polyamines are cationic molecules synthesized via a highly regulated pathway, obtained from the diet or produced by the gut microbiota. They are involved in general molecular and cellular phenomena that play a role also in vascular disease. Bicuspid aortic valve (BAV) is a congenital malformation associated to a greater risk of thoracic ascending aorta (TAA) aneurysm, whose pathogenesis is not yet well understood. We focused on differential analysis of key members of polyamine pathway and on polyamine concentration in non-dilated TAA samples from patients with either stenotic tricuspid aortic valve (TAV) or BAV (diameter ≤ 45 mm), vs...
November 17, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#14
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29131674/congenital-malformations-resembling-vacterl-association-in-a-golden-retriever
#15
Araceli Gamito-Gómez, Rodrigo Gutierrez-Quintana, Annette Wessmann
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine. Radiographs showed a cleft between the second and fifth metacarpal bones of the left thoracic limb compatible with ectrodactyly and spina bifida affecting T4 and T5 vertebrae. Magnetic resonance imaging of the thoracic spine showed dorsal reposition of the spinal cord and a tract connecting from the dura mater to the skin. No other malformations were detected...
November 13, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29081395/intradural-extramedullary-bronchogenic-cyst-clinical-and-radiological-characteristics-surgical-outcomes-and-literature-review
#16
Jian-Cong Weng, Jun-Peng Ma, Shu-Yu Hao, Liang Wang, Zhen Wu, Li-Wei Zhang, Da Li, Jun-Ting Zhang
OBJECTIVE: An intradural extramedullary bronchogenic cyst (IEBC) is a congenital malformation and an extremely rare type of endodermal cyst. This study aims to report the clinical and radiological characteristics and surgical outcomes of IEBCs and to review the available literature. METHODS: The medical records of 6 patients (3 females) with pathologically confirmed bronchogenic cysts involving the spinal cord between 2009 and 2016 were retrospectively reviewed, and follow-up evaluations were performed...
October 25, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29058584/radiographic-characteristics-in-congenital-scoliosis-associated-with-split-cord-malformation-a-retrospective-study-of-266-surgical-cases
#17
Fan Feng, Haining Tan, Xingye Li, Chong Chen, Zheng Li, Jianguo Zhang, Jianxiong Shen
BACKGROUND: Vertebrae, ribs, and spinal cord are anatomically adjacent structures, and their close relationships are clinically important for planning better corrective surgical approach. The objective is to identify the radiographic characteristics in surgical patients with congenital scoliosis (CS) and coexisting split cord malformation (SCM). METHODS: A total of 266 patients with CS and SCM underwent surgical treatment at our hospital between May 2000 and December 2015 was retrospectively identified...
October 23, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29042329/rare-giant-prevertebral-thoracic-myelomeningocele
#18
Bryan D Choi, Katie P Fehnel, William E Butler
Here we report a 72-year-old man who presented with complaint of sudden onset weakness and impaired sensation in the left lower extremity. Radiographic evaluation revealed a congenital malformation with multiple formation defects including a giant thoracic prevertebral myelomeningocele. Following microsurgical dethetering of the spinal cord the patient recovered ambulation with assist. While thoracic myelomeningoceles are themselves rare, in this case the patient presented at a late age, and responded well to conservative management...
October 14, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29033291/controversies-in-poland-syndrome-alternative-diagnoses-in-patients-with-congenital-pectoral-muscle-deficiency
#19
Martijn Baas, Elise B Burger, Dimitri Sneiders, Robert-Jan H Galjaard, Steven E R Hovius, Christianne A van Nieuwenhoven
PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency...
October 13, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29026365/incidental-finding-of-bronchopulmonary-sequestration-in-a-64-year-old-female
#20
Pichapong Tunsupon, Ayesha Arshad, Sumit Patel, M Jeffery Mador
BACKGROUND: Bronchopulmonary sequestration is a congenital abnormality of the primitive foregut. In adults, the typical age at presentation is 20-25 years. CASE REPORT: A 64-year-old female was referred for evaluation of an 8 × 6-cm right lower lobe cystic lesion. Her medical history was significant for recurrent right lower lobe pneumonia requiring multiple hospitalizations. Her physical examination was significant for crackles at the right lung base. Computed tomography (CT) of the chest with contrast showed cystic changes with thickened septation of the medial segment of the right lower lobe lacking distinct visceral pleura and with arterial supply from the anomalous branch of the thoracic aorta arising near the celiac trunk...
2017: Ochsner Journal
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