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Congenital thoracic malformation

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https://www.readbyqxmd.com/read/28283076/prevalence-of-thoracic-vertebral-malformations-in-french-bulldogs-pugs-and-english-bulldogs-with-and-without-associated-neurological-deficits
#1
R Ryan, R Gutierrez-Quintana, G Ter Haar, Steven De Decker
Congenital vertebral malformations are common incidental findings in small breed dogs. This retrospective observational study evaluated the type and prevalence of thoracic vertebral malformations in 171 neurologically normal and 10 neurologically abnormal screw-tailed brachycephalic dogs. Neurologically normal dogs underwent CT for reasons unrelated to spinal disease, while affected dogs underwent MRI. Imaging studies were reviewed and vertebral malformations including hemivertebrae, block vertebrae, transitional vertebrae, and spina bifida were documented...
March 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28267550/a-correlative-study-of-aortic-valve-rotation-angle-and-thoracic-aortic-sizes-using-ecg-gated-ct-angiography
#2
Farhood Saremi, Steven Cen, Nazila Tayari, Houman Alizadeh, Amir Emami, Leah Lin, Fernando Fleischman
OBJECTIVE: Various degrees of aortic valve rotation may be seen in individuals with no history of congenital cardiovascular malformations, but its association with aortic sizes has not been studied. METHODS: Gated computed tomographic (CT angiograms in 217 patients were studied (66.7±15; 22-97 years old)). Aortic diameters were determined at 5 anatomic locations. The length of the aorta from sinus to left subclavian artery was measured. The angle of valve rotation was recorded by measuring the angle between a line connecting the midpoint of the non-coronary sinus to the anterior commissure and another line along the interatrial septum...
April 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28266961/thoracic-manifestations-of-klippel-trenaunay-syndrome
#3
Mark M Hammer, Wallace T Miller
Klippel-Trenaunay syndrome (KTS) is a congenital disorder characterized by venous malformations and a predisposition to pulmonary embolism. We reviewed the imaging findings of 7 adult patients with KTS who underwent thoracic CT. While the superficial manifestations of KTS predominantly affect the extremities, patients frequently develop abnormalities of the pulmonary arterial system, particularly chronic thromboembolic pulmonary hypertension. Additionally, some patients are seen to develop pulmonary arteriolar aneurysms; the physiologic significance of this finding is unknown at this time...
March 6, 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28259381/fast-track-pediatric-thoracic-surgery-toward-day-case-surgery
#4
Pauline Clermidi, Myriam Bellon, Alia Skhiri, Olivier Jaby, Christine Vitoux, Michel Peuchmaur, Arnaud Bonnard
PURPOSE: Thoracoscopic lung resection for congenital pulmonary airway malformation (CPAM) is a safe technique for children. Our purpose was to evaluate the feasibility of a fast-track protocol in such cases. METHODS: From September 2007 to May 2016, 101 patients underwent a thoracoscopic pulmonary resection of which 83 for CPAM (lobectomy, wedge resection or sequestrectomy). We retrospectively reviewed the characteristics of surgical procedure, postoperative management and complications through three time periods (September 2007-December 2009: n=14, January 2010-March 2013: n=30, April 2013-May 2016: n=39) corresponding to management protocols modifications introducing fast-track pathways...
February 16, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28246561/management-of-the-amniotic-band-syndrome-with-cleft-palate-literature-review-and-report-of-a-case
#5
Carolina Cortez-Ortega, José Arturo Garrocho-Rangel, Joselín Flores-Velázquez, Socorro Ruiz-Rodríguez, Miguel Ángel Noyola-Frías, Miguel Ángel Santos-Díaz, Amaury Pozos-Guillén
Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28205035/serial-improvement-of-quality-metrics-in-pediatric-thoracoscopic-lobectomy-for-congenital-lung-malformation-an-analysis-of-learning-curve
#6
Samina Park, Eung Re Kim, Yoohwa Hwang, Hyun Joo Lee, In Kyu Park, Young Tae Kim, Chang Hyun Kang
Video-assisted thoracic surgery (VATS) pulmonary resection in children is a technically demanding procedure that requires a relatively long learning period. This study aimed to evaluate the serial improvement of quality metrics according to case volume experience in pediatric VATS pulmonary resection of congenital lung malformation (CLM). Methods VATS anatomical resection in CLM was attempted in 200 consecutive patients. The learning curve for the operative time was modeled by cumulative sum analysis. Quality metrics were used to measure technical achievement and efficiency outcomes...
February 15, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28151866/acute-arterial-embolism-of-left-lower-extremity-caused-by-paradoxical-embolism-in-ebstein-s-anomaly-a-case-report
#7
Jun-Sheng Li, Jie Ma, Zi-Xing Yan, Dong-Ming Cheng, Liang Chang, Hai-Chun Zhang, Jiang-Yan Liu
INTRODUCTION: Ebstein's anomaly is a benign and stable congenital heart disease for asymptomatic patients. Despite a low incidence of Ebstein's anomaly (EA), patients' quality of life can be badly affected by EA without positive surgical intervention. Especially EA is associated with other congenital heart disease, such as the atrial septal defect, patent foramen ovale, and arterial embolism exclude other reasons, it is often considered to be the consequence of paradoxical embolism, and surgical intervention must be conducted...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28150314/the-upturned-superior-mesenteric-artery-sign-for-first-trimester-detection-of-congenital-diaphragmatic-hernia-and-omphalocele
#8
Ravi Selvaraj Lakshmy, Joy Agnees, Nity Rose
OBJECTIVES: The aim of this study was to follow the course of the superior mesenteric artery (SMA) in first-trimester fetuses to predict the location of the small bowel. Its abnormal course aids in early detection of congenital diaphragmatic hernia (CDH) and assessment of the contents of omphalocele. METHODS: The SMA can be easily identified in a sagittal section of the fetus by using color Doppler sonography at the 11- to 14-week scan, and normally, it has a downward course caudally to supply the intestines...
March 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28096840/video-assisted-thoracoscopic-surgery-vats-right-upper-lobectomy-for-non-small-cell-lung-cancer-with-an-azygos-lobe
#9
Ozgur Samancilar, Tevfik İlker Akçam, Seyda Ors Kaya, Serpil Sevinc, Onur Akcay, Kenan Can Ceylan
Although it is not a pathologically significant entity, cases of azygos lobe (AL) are interesting due to the difficulty of performing video-assisted thoracoscopic surgery (VATS) procedures in the affected patients and the presence of a congenital malformation. Currently, videothoracoscopic surgery has advanced to such a level that most thoracic procedures can be performed with video assistance. However, some technical difficulties may arise in cases with anatomical anomalies such as AL. This report presents the case of a patient with an azygos lobe who underwent videothoracoscopic lung resection due to the presence of non-small-cell lung carcinoma in the upper lobe of the right lung...
December 2016: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/27978593/fetal-neurosonogaphy-ultrasound-and-magnetic-resonance-imaging-in-competition
#10
S Tercanli, F Prüfer
Both in routine diagnostics and detailed, highly specialized workups, major advances have been observed in many areas of ultrasound due to an increase in expertise and improved technology in recent years. This is particularly true in the case of fetal neurosonography 1 2 3 4. Malformations of the CNS together with fetal heart defects are among the most common congenital anomalies. From the embryonic phase to the late third trimester, the CNS undergoes extensive development and maturation processes. The diagnosis of CNS anomalies is therefore primarily dependent on the time at which the examination is performed and the experience of the examiner...
December 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27977582/spine-malformation-complex-in-3-diverse-syndromic-entities-case-reports
#11
Ali Al Kaissi, Andreas van Egmond-Fröhlich, Sergey Ryabykh, Polina Ochirov, Vladimir Kenis, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. PATIENTS CONCERNS: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27957373/a-rare-case-report-of-thoracic-ectopia-cordis-an-obstetrician-s-point-of-view-in-multidisciplinary-approach
#12
Diana Ramasauskaite, Vilija Snieckuviene, Viktorija Zitkute, Ramune Vankeviciene, Dalia Lauzikiene, Grazina Drasutiene
Ectopia cordis is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. It can be associated with other congenital abnormalities. Overall, the prognosis for infants with ectopia cordis is very poor but depends greatly on the type and severity of ectopia cordis and intracardiac and associated malformations. We present one case of a fetus with prenatally diagnosed thoracic ectopia cordis with intracardiac defects and omphalocele, all the abnormalities seen in pentalogy of Cantrell except a diaphragmatic defect...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27836748/-serpentine-like-syndrome-a-very-rare-multiple-malformation-syndrome-characterised-by-brachioesophagus-and-vertebral-anomalies
#13
Ana Beleza-Meireles, Patricia Steenhaut, Catheline Hocq, Philippe Clapuyt, Pierre Bernard, Christian Debauche, Yves Sznajer
"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip...
February 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27785331/congenital-esophageal-duplication-cyst-a-rare-cause-of-dysphagia-in-an-adult
#14
Nikhil Sonthalia, Samit S Jain, Ravindra G Surude, Ashok R Mohite, Pravin M Rathi
Esophageal duplication cyst is a rare congenital embryonal gastrointestinal (GI) malformation which is diagnosed most commonly in childhood. In adults, they can present with a variety of symptoms ranging from dysphagia, chest pain, epigastric discomfort, and vomiting to more serious complications including infections, hemorrhage, and ulcerations. A 30-year-old male presented with gradually progressive dysphagia to solids for 4 months without significant weight loss. Clinical examination and routine laboratory examination were unrevealing...
October 2016: Gastroenterology Research
https://www.readbyqxmd.com/read/27770196/is-congenital-pulmonary-airway-malformation-really-a-rare-disease-result-of-a-prospective-registry-with-universal-antenatal-screening-program
#15
C T Lau, A Kan, N Shek, P Tam, K K Y Wong
BACKGROUND: Congenital pulmonary airway malformation (CPAM) is an increasingly recognized disease with potential mortality. Owing to limited published studies, the true incidence is yet to be determined. We carried out this prospective study with the aim to estimate its true incidence on a population basis. METHODS: An antenatal ultrasonography program was implemented since 2009. Fetuses with suspected intra-thoracic lesions were monitored by regular follow-ups...
January 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/27716927/genetics-of-mayer-rokitansky-k%C3%A3-ster-hauser-mrkh-syndrome
#16
REVIEW
L Fontana, B Gentilin, L Fedele, C Gervasini, M Miozzo
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico-thoracic defects...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27550231/bicuspid-aortic-valve-a-review-with-recommendations-for-genetic-counseling
#17
REVIEW
Samantha L Freeze, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV...
December 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27489957/thoracoamniotic-shunts-in-macrocystic-lung-lesions-case-series-and-review-of-the-literature
#18
Magdalena Litwińska, Ewelina Litwińska, Katarzyna Janiak, Anna Piaseczna-Piotrowska, Ewa Gulczyńska, Krzysztof Szaflik
OBJECTIVE: To evaluate the efficiency of thoracoamniotic shunts for drainage of macrocystic-type congenital cystic adenomatoid malformation (CCAM). SUBJECTS AND METHODS: This was a retrospective study of 12 fetuses with a large thoracic cyst treated with thoracoamniotic shunting between 2004 and 2014 in a tertiary fetal therapy center. Medline was searched to identify cases of CCAM treated with thoracoamniotic shunting. RESULTS: In all cases the thoracic cyst was associated with major mediastinal shift, the CCAM volume ratio (CVR) was >1...
August 5, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27426476/cloves-syndrome-review-of-a-pik3ca-related-overgrowth-spectrum-pros
#19
REVIEW
A Martinez-Lopez, G Blasco-Morente, I Perez-Lopez, J D Herrera-Garcia, M Luque-Valenzuela, D Sanchez-Cano, J C Lopez-Gutierrez, R Ruiz-Villaverde, J Tercedor-Sanchez
Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation...
January 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27377402/-correction-of-congenital-malformations-by-custom-made-silicone-implants-contribution-of-computer-aided-design-experience-of-611%C3%A2-cases
#20
J P Chavoin, B Chaput, I Garrido, B Moreno, M Dahan, J L Grolleau
INTRODUCTION: Modern techniques of computer-aided design and tridimensional prototyping for manufacturing silicone elastomer custom implants are growing. They have widely modified the surgical indications in our unit. MATERIALS AND METHODS: By presenting their experience of 611 cases managed between 1993 and 2016, the authors describe the method of conception from CT-scans, the virtual image of the body and the manufacture of the custom-made implant perfectly adapted to the anatomy of each one...
October 2016: Annales de Chirurgie Plastique et Esthétique
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