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Congenital thoracic malformation

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...
October 21, 2016: Pediatric Surgery International
Laura Fontana, Barbara Gentilin, Luigi Fedele, Cristina Gervasini, Monica 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...
October 7, 2016: Clinical Genetics
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...
August 22, 2016: Journal of Genetic Counseling
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
Antonio Martinez-Lopez, Gonzalo Blasco-Morente, Israel Perez-Lopez, Jose David Herrera-Garcia, Maria Luque-Valenzuela, Daniel Sanchez-Cano, Juan Carlos Lopez-Gutierrez, Ricardo Ruiz-Villaverde, Jesus 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...
July 18, 2016: Clinical Genetics
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...
July 1, 2016: Annales de Chirurgie Plastique et Esthétique
Maria Victoria Romanini, Michele Torre, Pierluigi Santi, Laura Dova, Maura Valle, Carlo Martinoli, Iaria Baldelli
BACKGROUND: Poland syndrome is a congenital deformity characterized by unilateral anomalies of pectoralis muscles, breast, nipple, axillary fold, subcutaneous tissue, ribs, and upper limb. The thoracic anomaly, which is the pathognomonic malformation of Poland syndrome, presents a wide phenotype variability and has been classified by different authors. However, these classifications do not include all the possible phenotypes of Poland syndrome. The aim of this study is to propose a simple classification of the whole spectrum of thoracic anomalies and a treatment algorithm that could have a practical value for determining the surgical approach...
July 2016: Plastic and Reconstructive Surgery
A Bárcenas-Ibarra, I Rojas-Lleonart, R I Lozano-Guzmán, A García-Gasca
The olive ridley sea turtle (Lepidochelys olivacea), considered the most abundant sea turtle species, is listed as vulnerable on the International Union for Conservation of Nature Red List. The most important nesting areas are located in the Eastern Pacific, and congenital malformations have been previously reported in this species. The present study was conducted in a single population at El Verde beach, one of the most important nesting beaches for the species in the northwestern Mexican Pacific. The study was based on embryos that had been incubated in a controlled environment...
June 8, 2016: Veterinary Pathology
Friederike Lattig, Rita Taurman, Anna K Hell
STUDY DESIGN: Case Series. OBJECTIVE: To describe the post-VEPTR (vertical expandable prosthetic titanium rib) treatment changes in early-onset spinal deformity (EOSD), which may influence the final correction spondylodesis. SUMMARY OF BACKGROUND DATA: The VEPTR device, originally developed for the treatment of congenital rib cage malformation, is nowadays more widely used in the treatment of EOSD. At present, only a few reports describe the possible complications that may occur with repeated lengthening procedures of the VEPTR, thereby making the final spondylodesis more complicated and less satisfactory...
June 2016: Clinical Spine Surgery
Gareth J Morgan, Shakeel A Qureshi
Pulmonary arteriovenous malformations (PAVM) describe a broad group of complex vascular malformations, often associated with multi-system diseases and with palliated complex congenital heart disease. They can have major clinical consequences, resulting in strokes, cerebral abscesses, cyanosis and, infrequently, rupture into the pleural space. The best approach to their investigation and interventional treatment is via a multidisciplinary pathway which should be focused in high-volume centres with on-site thoracic and cardiovascular surgical back-up...
May 17, 2016: EuroIntervention
Jean-Pierre Chavoin, Jean-Louis Grolleau, Benjamin Moreno, Jérémie Brunello, Aymeric André, Marcel Dahan, Ignacio Garrido, Benoit Chaput
BACKGROUND: In the absence of demonstrable functional impairment, pectus excavatum is merely a congenital deformity, albeit with a marked psychological impact. Many patients do not wish to undergo thoracic remodeling operations, which are invasive and do not clearly result in respiratory or cardiac improvement. METHODS: From 1993 to 2015, the authors designed 401 custom-made silicone implants to treat funnel chests. Before 2007, implants were made from plaster chest molds...
May 2016: Plastic and Reconstructive Surgery
Rohit Loomba, Parinda H Shah, Robert H Anderson, Yingyot Arora
So-called "heterotaxy" is a laterality defect characterized by isomerism of the thoracic organs and random arrangement of the abdominal organs. These findings go beyond anatomic curiosity and have functional implications. It is, thus, of the utmost importance to be able to properly identify these findings. Radiologic studies can be invaluable in determining anomalies in the central nervous, pulmonary, cardiovascular, gastrointestinal, genitourinary, and immunologic systems in patients with isomerism. Here, we review findings associated with isomerism and their importance in the setting of isomerism with the aim of ensuring that radiologists effectively describe findings in these patients and that cardiologists understand the wide variety of congenital malformations that may be present...
2016: Curēus
Tianshen Hu, Travis Browning, Kristen Bishop
Several theories have been put forth to explain the complex yet symmetrical malformations and the myriad of clinical presentations of caudal duplication syndrome. Hereby, reported case is a 28-year-old female, gravida 2 para 2, with congenital caudal malformation who has undergone partial reconstructive surgeries in infancy to connect her 2 colons. She presented with recurrent left lower abdominal pain associated with nausea, vomiting, and subsequent feculent anal discharge. Imaging reveals duplication of the urinary bladder, urethra, and colon with with cloacal malformations and fistulae from the left-sided cloaca, uterus didelphys with separate cervices and vaginal canals, right-sided aortic arch and descending thoracic aorta, and dysraphic midline sacrococcygeal defect...
March 2016: Radiology case reports
Christopher L Sudduth, Sarah J Hill, Mehul V Raval
Two of the most common types of congenital thoracic malformations are congenital pulmonary airway malformations (CPAMs) and bronchopulmonary sequestrations (BPS). Here we present the first known case of a hybrid lesion, with coexisting features of an extralobar sequestration (ELS) and CPAM type 2, with arterial inflow from the celiac trunk and venous outflow to the portal vein. The clinical presentation, investigative imaging and timing of surgery are discussed.
July 2016: Pediatric Surgery International
Rajesh Krishnamurthy, Sara M Bahouth, Raja Muthupillai
Unlike in adults, contrast agent-enhanced magnetic resonance (MR) angiography in the pediatric population raises unique challenges such as faster heart rates, more rapid arteriovenous transit, smaller structures, smaller volumes of contrast agent used, and more complex disease processes. A need exists for a rapid contrast-enhanced MR angiographic technique that can separate the arterial and venous phases of contrast enhancement in sedated pediatric patients breathing freely during the course of an examination...
March 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Jørgen S Agerholm, Fintan J McEvoy, Michael H Goldschmidt
BACKGROUND: Congenital lipocytic tumours have rarely been reported in cattle. Lipomas are benign tumours, but infiltrative lipomas have significant health implications due to their aggressive infiltrative growth pattern. CASE PRESENTATION: A calf was born with skeletal malformations and soft tissue proliferations, primarily on the external thoracic wall. The calf was euthanized for welfare reasons and submitted for post mortem examination. Necropsy, histopathology and post mortem computed tomography scanning revealed two types of lipocytic tumours...
2016: Acta Veterinaria Scandinavica
Naoko Ose, Yuko Kobori, Yukiyasu Takeuchi, Yoshiyuki Susaki, Seiji Taniguchi, Hajime Maeda
Cavernous hemangioma is not a neoplasm, but rather a congenital venous malformation with the potential to develop in all parts of the body, though it is very rarely seen in the thymus. We report a case of cavernous hemangioma in the thymus partially resected. A 71-year-old woman presented with pericardial discomfort, and chest computed tomography (CT) showed a left lateral mediastinal mass which was 2.0 × 1.2 × 1.8 cm in size, with border regularity and without calcification. Its interior was partially enhanced...
December 2016: Surgical Case Reports
Rong Yu, Sheng-li Li, Guo-yang Luo, Hua-xuan Wen, Shu-yuan Ouyang, Cong-ying Chen, Ying Yuan
OBJECTIVES: The purpose of this study was to describe the echocardiographic features and perinatal outcomes of congenital absence of the aortic valve diagnosed by first-trimester echocardiography. METHODS: This retrospective study assessed the feasibility of first-trimester echocardiography in detecting absence of the aortic valve. All cases of absence of the aortic valve diagnosed by first-trimester fetal echocardiography from January 2010 to December 2014 were identified at a single referral center using an established perinatal database...
April 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Jelena R Ilić Sabo, Tamara J Bošković, Mirjana M Živojinov, Aleksandra M Fejsa Levakov
UNLABELLED: INTRODUCTION. Pentalogy of Cantrell is a very rare congenital multiple malformation with the poor outcome. Syndrome included the following pentad: abdominal wall defect, a defect of the lower sternum, anterior diaphragm defect, ectopia cordis, as well as a variety of intracardiac anomalies. CASE REPORT: In the fifteenth week of the twin pregnancy, ultrasound examination showed multiple anomalies in one, as well as the absence of the nose apex in the other twin...
November 2015: Medicinski Pregled
M Radionov, D D Ziya, M Nedevska
The sterno-costal hernia of Morgagni is a congenital vice in which is represented unfinished fusion of the transverse septum and the muscular diaphragmal wall. The malrotation syndrome is an embryonic vice as well, with various degree of incomplete and even reverse rotation of the gut, because of disturbed or unfinished development of the midgut. The described case presents a 37 years old female without anamnesis of any previous complains, who was pointed to the clinic after a X-ray photograph because of breathless and asteno-adynamic syndrome...
2015: Khirurgiia
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