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Congenital thoracic malformation

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https://www.readbyqxmd.com/read/29207383/thoracic-changes-after-full-laser-ablation-of-the-feeding-artery-in-fetuses-with-bronchopulmonary-sequestration
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28962659/polysplenia-syndrome-with-duodenal-and-pancreatic-dysplasia-in-a-holstein-calf-a-case-report
#12
Daisuke Kondoh, Tomomi Kawano, Tomoaki Kikuchi, Kaoru Hatate, Kenichi Watanabe, Motoki Sasaki, Norio Yamagishi, Hisashi Inokuma, Nobuo Kitamura
BACKGROUND: Laterality disorders of the abdominal organs include situs inversus totalis that mirrors the arrangements of all internal organs and heterotaxy syndrome (situs ambiguus) in which the thoracic or abdominal organs are abnormally arranged. Heterotaxy is often accompanied by multiple congenital malformations, and it generally comprises asplenia and polysplenia syndromes. To our knowledge, polysplenia syndrome has been reported in only three cattle, and computerized tomographic (CT) images of these animals were not obtained...
September 29, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28904674/-a-rare-cause-of-exertional-dry-cough-agenesis-of-the-left-pulmonary-artery-associated-with-pulmonary-hypoplasia
#13
Azzeddine Laaraje, Naima El Hafidi, Chafik Mahraoui
Agenesis of the left pulmonary artery associated with hypoplasia of the ipsilateral lung is a rare congenital malformation in children; it can be discovered fortuitously or because of the presence of recurrent respiratory infections. Diagnosis is based on thoracic angioscanner. Treatment is essentially conservative. We report the case of a 6-year old child with agenesis of the left pulmonary artery associated with hypoplasia of the ipsilateral lung detected because of exertional dry cough.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28868608/incidental-imaging-findings-of-congenital-rib-abnormalities-a-case-series-and-review-of-developmental-concepts
#14
Anda Maria Aignătoaei, Cristina Elena Moldoveanu, Irina Draga Căruntu, Simona Eliza Giușcă, Simona Partene Vicoleanu, Alin Horațiu Nedelcu
BACKGROUND: Congenital rib abnormalities are found in approximately 2% of the general population. Usually, they occur in isolation, when they are rarely symptomatic, but they can also associate with other malformations. MATERIALS AND METHODS: We reviewed imaging examinations performed over a period of two years (2014-2015), enabling us to identify isolated rib abnormalities in six adult patients. RESULTS: The case series consisted in three cases with bilateral cervical ribs and one case each with bifid rib, costal fusion and rib pseudarthrosis...
September 4, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28845003/-diagnosis-of-right-ventricular-outflow-tract-and-intraoperative-lesion-in-patients-with-right-coronary-artery-sinus-rupture-by-transthoracic-echocardiography
#15
Xiongfei Liang, Yifeng Yang, Wei Lin
To investigate the role of thoracic echocardiography in diagnosis and differential diagnosis of the right ventricular outflow tract into the right aorta with right ventricular aneurysm rupture. 
 Methods: A total of 19 patients with sinus rupture caused by ventricular septal defect in the right ventricular outflow road were reviewed. These patients were diagnosed as aortic right coronary sinus by preoperative transthoracic echocardiography from February 2010 to September 2016 in Xiangya Second Hospital and Xiangya Medical College Affiliated Haikou Hospital...
July 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28759082/persistent-left-superior-vena-cava
#16
Kamil W Tyrak, Jakub Holda, Mateusz K Holda, Mateusz Koziej, Katarzyna Piatek, Wieslawa Klimek-Piotrowska
Persistent left superior vena cava (PLSVC) is the most common congenital malformation of thoracic venous return and is present in 0.3 to 0.5% of individuals in the general population. This heart specimen was dissected from a 35-year-old male cadaver whose cause of death was determined as non-cardiac. The heart was examined and we found a PLSVC draining into the coronary sinus. The right superior vena cava was present with a small-diameter ostium. An anomalous pulmonary vein pattern was observed; there was a common trunk to the left superior and left inferior pulmonary veins (diameter 17...
May 23, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28737279/exercise-capacity-is-not-decreased-in-children-who-have-undergone-lung-resection-early-in-life-for-congenital-thoracic-malformations-compared-to-healthy-age-matched-children
#17
Ashlee Dunn, Kasey Pearce, Robin Callister, Adam Collison, Matthew Morten, Payal Mandaliya, Lauren Platt, Ben Dascombe, Rajendra Kumar, Hiran Selvadurai, Paul D Robinson, Joerg Mattes
PURPOSE: The purpose of this study was to compare (i) the exercise capacity and (ii) lung function prior to and immediately post cardiopulmonary exercise tests (CPET) of children who underwent early life lung resection for Congenital Pulmonary Airway Malformations (CPAM) to healthy control children. METHOD: Eight children with CPAM (four males, age 9.6 ± 1.8 years) and eight control children without respiratory disease (three males, age 9.4 ± 1.4 years) performed a CPET on a cycle ergometer, during which maximal oxygen consumption (V̇O2max ) and heart rate were measured...
October 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#18
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
November 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28683719/microbubbles-in-macrocysts-contrast-enhanced-ultrasound-assisted-sclerosant-therapy-of-a-congenital-macrocystic-lymphangioma-a-case-report
#19
Carlos Menendez-Castro, Maren Zapke, Fabian Fahlbusch, Heiko von Goessel, Wolfgang Rascher, Jörg Jüngert
BACKGROUND: Congenital cystic lymphangiomas are benign malformations due to a developmental disorder of lymphatic vessels. Besides surgical excision, sclerosant therapy of these lesions by intracavitary injection of OK-432 (Picibanil®), a lyophilized mixture of group A Streptococcus pyogenes, is a common therapeutical option. For an appropriate application of OK-432, a detailed knowledge about the structure and composition of the congenital cystic lymphangioma is essential. SonoVue® is a commercially available contrast agent commonly used in sonography by intravenous and intracavitary application...
July 6, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28637939/surgery-of-thymic-tumor-with-persistent-left-superior-vena-cava
#20
Masahiro Yanagiya, Jun Matsumoto, Hirotsugu Hashimoto, Yoshio Suzuki, Hajime Horiuchi
Because a persistent left superior vena cava (PLSVC) is a rare congenital malformation in the thoracic venous system, surgery of the thymus in such patients has rarely been reported. We herein present a case involving a 68-year-old woman who was treated for a thymic tumor adhering to a PLSVC. She underwent complete resection of the thymic tumor through median sternotomy with left-sided video-assisted thoracic surgery. Although the tumor was close to the left phrenic nerve, this nerve was safely preserved. The pathological diagnosis was mucosa-associated lymphoid tissue (MALT) lymphoma of the thymus...
June 22, 2017: Annals of Thoracic and Cardiovascular Surgery
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