Sample records for del pectus excavatum

  1. Pectus excavatum and carinatum.

    PubMed

    Cobben, Jan M; Oostra, Roelof-Jan; van Dijk, Fleur S

    2014-08-01

    Pectus excavatum and carinatum are the most common morphological chest wall abnormalities. For both pectus excavatum and carinatum the pathogenesis is largely unknown although various hypotheses exist. Usually, exclusion of an underlying syndromal or connective tissue disorder is the reason for referral for genetic evaluation. A detailed anamnesis and family history are needed as well as a complete dysmorphological physical examination. If no features of an underlying disorder are detected, then the pectus excavatum/carinatum can be considered as an isolated abnormality and no further genetic studies seem indicated. Although cases of non-syndromal pectus excavatum/carinatum with a positive family history fitting Mendelian inheritance have been described, it is possible that these pedigrees represent multifactorial inheritance, as no genetic cause for familial isolated pectus excavatum/carinatum has been described yet. The recurrence risk for a non-familial iolated pectus excavatum/carinatum is unknown, but thought to be low. If other symptoms are found then appropriate further diagnostic studies are indicated as pectus excavatum/carinatum can be part of many syndromes. However, the most important and most frequently observed monogenic syndromes with pectus excavatum/carinatum are Marfan Syndrome and Noonan Syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  2. Reactive pectus carinatum in patients treated for pectus excavatum.

    PubMed

    Swanson, Jordan W; Colombani, Paul M

    2008-08-01

    The Ravitch and minimally invasive Nuss procedures have brought widespread relief to children with pectus excavatum, chest wall deformities, over the last half century. Generally accepted long-term complications of pectus excavatum repair are typically limited to recurrence of the excavatum deformity or persistent pain. This study examines the authors' experience with patients who develop a subsequent carinatum deformity within 1 year of pectus excavatum repair. The authors retrospectively assessed the charts of all patients diagnosed as having a carinatum deformity subsequent to treatment for pectus excavatum at a tertiary urban hospital. We noted age at original correction of pectus excavatum, time from original correction to diagnosis of carinatum deformity, age at correction of carinatum deformity, complaints before correction, methods of repair, postoperative complications, and we reviewed relevant radiography. Three patients who underwent pectus excavatum repair between January 2000 and August 2007 developed a subsequent carinatum deformity. Two patients initially underwent minimally invasive Nuss correction of pectus excavatum; 1 patient underwent the Ravitch procedure. Within 1 year of original correction and despite intraoperative achievement of neutral sternal position, a protruding anterior chest deformity resembling de novo pectus carinatum emerged in each patient; we term this condition reactive pectus carinatum. The mean age of patients undergoing initial pectus excavatum repair was 13 years (range, 11-16 years). The pathophysiology of this reactive lesion is not well understood but is thought to originate from reactive fibroblastic stimulation as a result of sternal manipulation and bar placement. Patients who underwent Nuss correction initially were managed with early bar removal. Two of the patients eventually required surgical resection of the carinatum deformity at a time interval of 3 to 6 years after initial excavatum repair. In one patient

  3. Minimally invasive repair of pectus excavatum

    PubMed Central

    Calder, Bennett W.; Lesher, Aaron

    2016-01-01

    Pectus excavatum, an acquired or congenital depression of the anterior chest wall, is the most commonly occurring chest wall deformity. Patients with pectus excavatum experience psychosocial and physiologic consequences such as impaired social development and pulmonary and/or cardiac dysfunction as a result of the deformity. Traditionally, repair of the defect was performed with a major open operation, the most common being based on modifications of the Ravitch procedure. In the late 1990’s, the operative approach was challenged with a new minimally invasive technique described by Dr. Donald Nuss. This approach utilizes thoracoscopic visualization with small incisions and placement of a temporary metal bar positioned behind the sternum for support it while the costal cartilages remodel. Since introduction, the minimally invasive repair of pectus excavatum (MIRPE) has become accepted in many centers as the procedure of choice for repair of pectus excavatum. In experienced hands, the procedure has excellent outcomes, shorter procedural length, and outstanding cosmetic results. However, proper patient selection and attention to technical details are essential to achieve optimal outcomes and prevent significant complications. In the following, we describe our perspective on pectus excavatum deformities, operative planning, and technical details of the MIRPE procedure. PMID:29078501

  4. Minimal Invasive Repair of Pectus Excavatum and Carinatum.

    PubMed

    Pilegaard, Hans; Licht, Peter Bjørn

    2017-05-01

    Minimal invasive surgery has become the gold standard for surgical repair of pectus excavatum. The procedure can be performed as fast-track surgery and cosmetic results are excellent. In addition, cardiac performance improves after correction. With increased awareness on the Internet, the number of patients who seek help continues to rise, primarily for cosmetic reasons. Pectus carinatum is much less frequent than pectus excavatum. Over the past decade surgery has largely been replaced by compression techniques that use a brace, and cosmetic results are good. Rare combinations of pectus excavatum and carinatum may be treated by newer surgical methods. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Surgical repair of pectus excavatum and carinatum.

    PubMed

    Robicsek, Francis; Watts, Larry T; Fokin, Alexander A

    2009-01-01

    The author discusses different forms of pectus deformities and presents appropriate surgical methods he developed for their correction. For pectus excavatum, the surgical technique includes conservative sub-perichondral resection of deformed costal cartilages and detachment of the xiphoid process. A transverse sternotomy is performed at the upper level of the deformed sternum, which is then bent forward. The corrected sternal position is secured by a "hammock" of synthetic mesh, spread behind the sternum, and attached to the respective cartilage remnants. The pectoralis muscles are then united presternally. The initial steps of pectus carinatum correction are similar to that of pectus excavatum. The sternum, however, is not freed of its environment. A length of 3-4 cm is resected from the distal sternum and the xiphoid process is reattached in the proper anatomical direction. Measures to correct different anatomical varieties, such as pouter pigeon breast, asymmetrical pectus excavatum, and carinatum, are discussed individually.

  6. Scoliosis after pectus excavatum correction: does it improve or worsen?

    PubMed

    Chung, Jae Ho; Park, Hyung Joo; Kim, Kwang Taik

    2017-07-01

    Scoliosis is associated with pectus excavatum. However, the change in the degree of scoliosis after pectus excavatum correction has not been clarified. This study examined how the correction of pectus excavatum influences the status of pre-existing scoliosis. A total of 779 pectus excavatum patients operated between 2007 and 2011 using the pectus bar were retrospectively analysed. Preoperative severity and postoperative change of scoliosis in accordance with the severity of pectus excavatum were evaluated. Cobb angle, Haller index and sternal tilt degree were measured from pre- and postoperative whole-spine anteroposterior radiographs and chest computed tomography. Sixty-three (8%) patients had scoliosis (Cobb angle >10°). No significant correlation was noted between postoperative changes in Cobb angle, Haller index or sternal tilt angle. Preoperative severity of scoliosis showed a positive correlation with postoperative changes in Cobb angle ( r  = 0.527, P  < 0.001). In analyses between groups with mild and moderate scoliosis (Cobb angle <15° and >15°, respectively), the mean postoperative Cobb angle was decreased in mild scoliosis (-2.88°) but was increased in moderate scoliosis (3.86°; P  < 0.001). Regarding the 'improvement' and 'aggravation' of scoliosis after pectus correction, preoperative severity of scoliosis was the only significant factor in univariable and multivariable analysis. Pectus excavatum repair using a pectus bar may improve scoliosis, but when the preoperative Cobb angle exceeds 15°, scoliosis may be aggravated. Therefore, pectus excavatum with concomitant moderate scoliosis requires extra caution during repair. This preliminary result suggests further investigation into the effect of chest cage remodelling on spine dynamics. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  7. Surgical correction of pectus excavatum and carinatum.

    PubMed Central

    Singh, S V

    1980-01-01

    This paper contains an analysis of the long-term results in 85 patients who had pectus excavatum or carinatum deformities repaired at the North Middlesex Hospital between 1951 and 1977. Seventy-seven patients had operations for correction of pectus excavatum and eight for pectus carinatum. A variety of surgical techniques was used. In the excavatum deformities the best results were obtained by the extensive resection of all deformed cartilages, the correction of the sternal deformity by a simple transverse wedge osteotomy, and by stabilising the chest with a stainless steel plate. For pectus carinatum, the involved cartilages were resected and an osteotomy of the sternum was performed. We preferred in most cases to stabilise the chest wall with a metal strut in this deformity as well. The best cosmetic results were achieved by the use of a stainless steel plate passed beneath the sternum and left for not more than six months. PMID:7444843

  8. Symptomatic Pectus Excavatum in Seniors: An Exploratory Study on Clinical Presentation and Incidence in Daily Practice

    PubMed Central

    Winkens, Ron A. G.; Guldemond, Frank I.; Hoppener, Paul F. H. M.; Kragten, Hans A.; Knottnerus, J. Andre

    2013-01-01

    Objectives. Doctors all over the world consider a pectus excavatum usually as an incidental finding. There is some evidence suggesting that a pectus excavatum may cause symptoms in the elderly. It is not known how often a pectus excavatum occurs and how strong the relation is with symptoms. Methods. In hospitals and general practice data, we searched for evidence of a connection between cardiac symptoms and the presence of a pectus excavatum in a retrospective survey among patients in whom a pectus excavatum was found in a chest X-ray. In radiology reports, we searched for “pectus excavat∗ ” in almost 160000 chest X-rays. The identified X-rays were reviewed by 2 radiologists. Reported symptoms were combined to a severity sum score and the relation with pectus excavatum was assessed through logistic regression. Results. Pectus excavatum was found in 1 to 2 per 1000 chest X-rays. In 32% of patients (N = 117), we found symptoms that might reflect the presence of symptomatic pectus excavatum. We found a significant relation between the SPES sum score and the radiological level of pectus excavatum. Conclusions. A pectus excavatum found when examining the patient should not be neglected and should be considered as a possible explanation for symptoms like dyspnoea, fatigue, or palpitations. PMID:24982857

  9. The sandwich technique for repair of pectus carinatum and excavatum/carinatum complex.

    PubMed

    Park, Hyung Joo; Kim, Kyung Soo

    2016-09-01

    Simple external compression of pectus carinatum seems to have its limitations, particularly the repair of asymmetric pectus carinatum or excavatum/carinatum complex. We devised the sandwich technique (press-molding) to remodel the entire chest wall. The purpose of this study is to introduce the sandwich technique and appraise the early results. Between January 2007 and January 2016, 523 consecutive patients with pectus carinatum and its variants were analyzed retrospectively. No patients were excluded during the study period. The sandwich 1 and 2 techniques using the internal and external pectus bars were for pectus carinatum repair. Modified techniques using the external string and the internal bar were to treat the lower costal flare (the flare-buster) and focal protuberances (the magic string) in pectus excavatum repair. Statistical analyses were carried out using paired and unpaired t -test or Wilcoxon signed rank tests. The sandwich repair with the external and internal bars was applied to 58 pectus carinatum patients: seven symmetric (12.1%), 14 asymmetric (24.1%), and 37 carinatum-excavatum complex (63.8%). After pectus excavatum repair, 426 patients had the flare-buster and 39 patients received the magic string. The sandwich 1 technique achieved near-complete resolution of carinatum in 52 patients (86.2%). The sandwich 2 technique accomplished almost symmetric configuration with no residual carinatum in all six cases. The sandwich technique using the external and internal bars seems to be effective in treating asymmetric pectus carinatum and complex excavatum/carinatum deformities. The flare-buster and the magic string effectively relieve the costal flare and focal protuberances in pectus excavatum repair.

  10. The sandwich technique for repair of pectus carinatum and excavatum/carinatum complex

    PubMed Central

    Kim, Kyung Soo

    2016-01-01

    Background Simple external compression of pectus carinatum seems to have its limitations, particularly the repair of asymmetric pectus carinatum or excavatum/carinatum complex. We devised the sandwich technique (press-molding) to remodel the entire chest wall. The purpose of this study is to introduce the sandwich technique and appraise the early results. Methods Between January 2007 and January 2016, 523 consecutive patients with pectus carinatum and its variants were analyzed retrospectively. No patients were excluded during the study period. The sandwich 1 and 2 techniques using the internal and external pectus bars were for pectus carinatum repair. Modified techniques using the external string and the internal bar were to treat the lower costal flare (the flare-buster) and focal protuberances (the magic string) in pectus excavatum repair. Statistical analyses were carried out using paired and unpaired t-test or Wilcoxon signed rank tests. Results The sandwich repair with the external and internal bars was applied to 58 pectus carinatum patients: seven symmetric (12.1%), 14 asymmetric (24.1%), and 37 carinatum-excavatum complex (63.8%). After pectus excavatum repair, 426 patients had the flare-buster and 39 patients received the magic string. The sandwich 1 technique achieved near-complete resolution of carinatum in 52 patients (86.2%). The sandwich 2 technique accomplished almost symmetric configuration with no residual carinatum in all six cases. Conclusions The sandwich technique using the external and internal bars seems to be effective in treating asymmetric pectus carinatum and complex excavatum/carinatum deformities. The flare-buster and the magic string effectively relieve the costal flare and focal protuberances in pectus excavatum repair. PMID:27747176

  11. Pectus Excavatum and Heritable Disorders of the Connective Tissue

    PubMed Central

    Tocchioni, Francesca; Ghionzoli, Marco; Messineo, Antonio; Romagnoli, Paolo

    2013-01-01

    Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations) phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence. PMID:24198927

  12. Pectus Excavatum: A Review of Diagnosis and Current Treatment Options.

    PubMed

    Abid, Irfaan; Ewais, MennatAllah M; Marranca, Joseph; Jaroszewski, Dawn E

    2017-02-01

    Osteopathic medicine places a special emphasis on the musculoskeletal system, and understanding how chest wall structure may influence function is critical. Pectus excavatum is a common congenital chest wall defect in which the sternum is depressed posteriorly. Patients may present with complaints of chest wall discomfort, exercise intolerance, and tachycardia. The medical implications, diagnosis, and treatment options for patients with pectus excavatum are reviewed.

  13. Prevalence of pectus carinatum and pectus excavatum in students in the city of Manaus, Brazil.

    PubMed

    Westphal, Fernando Luiz; Lima, Luiz Carlos de; Lima Neto, José Corrêia; Chaves, Altair Rodrigues; Santos Júnior, Vítor Lazarini dos; Ferreira, Brena Luize Cunha

    2009-03-01

    To determine the prevalence of congenital anterior chest wall deformities in 11- to 14-year-old students. Students participating in the study were recruited from public schools in the city of Manaus, Brazil. The statistically significant sample (precision, 1%; 95% CI) comprised 1,332 students. Pectus deformities were identified by physical examination of the chest, and the individuals with one of these deformities completed a questionnaire regarding heredity and symptoms resulting from the chest abnormality. The mean age of the participants was 11.7 years. The prevalence of pectus abnormalities was 1.95% (pectus excavatum: 1.275%; pectus carinatum: 0.675%). Of the 26 students with a pectus deformity, 17 (65.4%) had pectus excavatum, and 18 (69.2%) were male. Concomitant scoliosis was observed in 3 cases (11.5%). A family history of pectus was reported by 17 students (65.4%), and 17 (65.4%) reported chest pain, dyspnea or palpitations. In this study, the prevalence of pectus deformities (1.95%) was lower than that reported in other studies conducted in Brazil (3.6-4.9%) but was higher than that reported in the literature (mean, 1%).

  14. Silicone implant correction of pectus excavatum.

    PubMed

    Wechselberger, G; Ohlbauer, M; Haslinger, J; Schoeller, T; Bauer, T; Piza-Katzer, H

    2001-11-01

    Between May 1989 and December 2000 in 24 adult patients with pectus excavatum, a subcutaneous implantation of silicone prostheses was performed. Of the 24 patients, 20 were followed. During follow-up the authors encountered seroma complications in 13 patients and postoperative hematoma in 4 patients. The patients stayed in the hospital 5 days on average, and showed excellent aesthetic results in 80% (N = 16), good results in 10% (N = 2), and fair results in 10% (N = 2). Patient satisfaction was also taken into consideration. A follow-up survey questioned whether patients were satisfied with the cosmetic outcome. On a scale of 1 to 5 points, with 1 point being the highest level of satisfaction, 85% of patients used ratings of 1 and 2 to express satisfaction levels. Silicone implant correction of pectus excavatum in adult patients without any impairment of cardiopulmonary function has value. The major advantages are the minimally invasive operation, the short hospital stay, good aesthetic results, and high patient satisfaction

  15. Correlation between clinical severity and type and degree of pectus excavatum in twelve brachycephalic dogs.

    PubMed

    Hassan, Elham A; Hassan, Marwa H; Torad, Faisal A

    2018-05-18

    The aim of the study was to correlate the clinical severity of pectus excavatum with its type and degree based on objective radiographic evaluation. Twelve brachycephalic dogs were included. Grading of the clinical severity was done based on a 6-point grading score. Thoracic radiographs were used to calculate the frontosagittal and vertebral indices at the tenth thoracic vertebra and the vertebra overlying the excavatum. Correlation between the clinical severity score and frontosagittal and vertebral indices was evaluated using Pearson's correlation coefficient. Typical pectus excavatum was recorded in the caudal sternum in seven dogs, with a mean clinical severity score of 1.7 ± 1.4, whereas in five dogs, atypical mid-sternal deviation was recorded with a mean clinical severity score of 3.8 ± 0.7. A strong correlation (r=0.7) was recorded between the clinical severity score and vertebral index in the atypical form, whereas a weak correlation (r=0.02) was recorded in the typical form (P<0.05). The clinical severity and degree of pectus excavatum was poorly correlated (r=0.3) in the typical form of pectus excavatum, whereas it was strongly correlated (r=0.9) in the atypical form. Pectus excavatum in dogs is associated with compressive cardiopulmonary dysfunction, which depends mainly on the site/type of deviation rather than the degree of deviation.

  16. Virtual simulation of the postsurgical cosmetic outcome in patients with Pectus Excavatum

    NASA Astrophysics Data System (ADS)

    Vilaça, João L.; Moreira, António H. J.; L-Rodrigues, Pedro; Rodrigues, Nuno; Fonseca, Jaime C.; Pinho, A. C. M.; Correia-Pinto, Jorge

    2011-03-01

    Pectus excavatum is the most common congenital deformity of the anterior chest wall, in which several ribs and the sternum grow abnormally. Nowadays, the surgical correction is carried out in children and adults through Nuss technic. This technic has been shown to be safe with major drivers as cosmesis and the prevention of psychological problems and social stress. Nowadays, no application is known to predict the cosmetic outcome of the pectus excavatum surgical correction. Such tool could be used to help the surgeon and the patient in the moment of deciding the need for surgery correction. This work is a first step to predict postsurgical outcome in pectus excavatum surgery correction. Facing this goal, it was firstly determined a point cloud of the skin surface along the thoracic wall using Computed Tomography (before surgical correction) and the Polhemus FastSCAN (after the surgical correction). Then, a surface mesh was reconstructed from the two point clouds using a Radial Basis Function algorithm for further affine registration between the meshes. After registration, one studied the surgical correction influence area (SCIA) of the thoracic wall. This SCIA was used to train, test and validate artificial neural networks in order to predict the surgical outcome of pectus excavatum correction and to determine the degree of convergence of SCIA in different patients. Often, ANN did not converge to a satisfactory solution (each patient had its own deformity characteristics), thus invalidating the creation of a mathematical model capable of estimating, with satisfactory results, the postsurgical outcome.

  17. Surgical correction of pectus excavatum. How did we get here? Where are we going?

    PubMed

    Robicsek, F; Watts, L T

    2011-02-01

    The currently applied techniques recommended for the repair of pectus excavatum anomalies are discussed, set against a historical review of early clinical studies and surgical interventions. The issues of the future direction pectus excavatum surgery may take are analyzed in detail, with the reviewer expressing reservations in connection with the recent trend to closed repair and concern over the potential for serious complications associated with the application of this technique. © Georg Thieme Verlag KG Stuttgart · New York.

  18. Psychosocial functioning in pediatric patients with pectus excavatum and pectus carinatum.

    PubMed

    Bahadir, Aliye Tuğba; Kuru Bektaşoğlu, Pınar; Çakiroğlu Eser, Aylin; Afacan, Ceyda; Yüksel, Mustafa

    2017-06-12

    Pectus excavatum and pectus carinatum are the most commonly seen anterior chest wall deformities. Recent studies reveal that minimal invasive repair of pectus deformities improves the quality of life. Our aim is to assess the psychosocial functioning and sociodemographic characteristics of pediatric patients with pectus deformities and evaluate the differences between patients operated on with minimal invasive repair techniques and nonoperated patients.  Thirty-two patients with pectus deformities who were operated on 6 months or more before and 31 nonoperated patients participated in the study. The Children's Depression Inventory, Piers-Harris Children's Self-Concept Scale, Capa Social Phobia Scale for Children and Adolescents, Strengths and Difficulties Questionnaire - Self-Report Version (SDQ-SR), and State-Trait Anxiety Inventory for Children - Trait Version were completed by the patients. The SDQ-Parent Report Version (SDQ-PR) was completed by their parents.  There were no statistically significant differences between operated and nonoperated patient groups in terms of total scores on the psychiatric rating scales. Prosocial behavior subscale scores in SDQ-SR (P = 0.013) and SDQ-PR (P = 0.019) were lower in the operated group. Prosocial behavior levels were lower in the operated group. Further exploration of the psychosocial profile of pediatric patients with pectus deformities would better elucidate their needs in the course of their socioemotional development.

  19. Aesthetic treatment of pectus excavatum: a new endoscopic technique using a porous polyethylene implant.

    PubMed

    Grappolini, Simone; Fanzio, Paolo M; D'Addetta, Pierluca G C; Todde, Alberto; Infante, Maurizio

    2008-01-01

    Pectus excavatum is the most frequent malformation of the rib cage. Functional aspects associated with this malformation often are absent even in adults not involved in competitive sports activities. Overall, these patients often live with extreme psychological discomfort when the malformations are minor. Traditionally, the correction of these malformations has been geared toward interventions that modify the architecture of the rib cage. However, all these interventions, even the most recent, involve considerably invasive major surgery. In fact, optimal results are not always achieved with corrective surgery using the insertion of silicone prosthesis, and patients often experience complications. To correct intermediate and modest pectus excavatum in a stable manner and with the least amount of invasiveness, the authors developed a camouflage technique that uses porous prostheses made from high-density linear polyethylene. This material is generally used for reconstruction of the brain case. Between February 2001 and March 2006, in the I Unit of Plastic Surgery of the authors' Institute, 11 adult pectus excavatum patients with no previous cardiorespiratory symptoms underwent the authors' surgical technique. The average patient age was 29 years. Surgical repair was successful in all cases, and the average hospital stay was short. There were no complications during the follow-up period. The described approach repairs nonfunctional pectus excavatum in the adult with satisfying aesthetic and stable results, short hospital stay, and high patient popularity ratings. The best therapeutic option for pectus excavatum, especially with intermediate or moderate severity, is still controversial: thoracic surgery or camouflage surgery with implant? Trying to address those issues we propose a new technique by a multidisciplinary, not aggressive approach using a high density linear polyethylene implant and Omentus flap and the early analysis of our data.

  20. Dynamic right ventricular outflow tract (infundibular) stenosis and pectus excavatum in a dog

    PubMed Central

    Fournier, Tanya E.

    2008-01-01

    This is the first published report of a dog with dynamic right ventricular outflow tract (infundibular) stenosis, right ventricular hypertrophy, and pectus excavatum. A juvenile dog presented with a grade V/VI left base systolic heart murmur, tachycardia, and pectus excavatum. Diagnosis of the aforementioned conditions was based on radiography, electrocardiography, and echocardiography. At 9 1/2 wk of age the heart murmur was no longer audible and the right ventricular stenosis and hypertrophy had dissipated and regressed, respectively. Resolution may be associated with growth of the dog. A good prognosis is foreseen. PMID:18512460

  1. Surgical repair of pectus excavatum markedly improves body image and perceived ability for physical activity: multicenter study.

    PubMed

    Kelly, Robert E; Cash, Thomas F; Shamberger, Robert C; Mitchell, Karen K; Mellins, Robert B; Lawson, M Louise; Oldham, Keith; Azizkhan, Richard G; Hebra, Andre V; Nuss, Donald; Goretsky, Michael J; Sharp, Ronald J; Holcomb, George W; Shim, Walton K T; Megison, Stephen M; Moss, R Lawrence; Fecteau, Annie H; Colombani, Paul M; Bagley, Traci; Quinn, Amy; Moskowitz, Alan B

    2008-12-01

    This study evaluated changes in both physical and psychosocial quality of life reported by the parent and child after surgical repair of pectus excavatum. As part of a multicenter study of pectus excavatum, a previously validated tool called the Pectus Excavatum Evaluation Questionnaire was administered by the research coordinator, via telephone, to parents and patients (8-21 years of age) before and 1 year after surgery. Eleven North American children's hospitals participated. From 2001 to 2006, 264 patients and 291 parents completed the initial questionnaire, and 247 patients and 274 parents completed the postoperative questionnaire. Responses used a Likert-type scale of 1 to 4, reflecting the extent or frequency of a particular experience, with higher values conveying less-desirable experience. Preoperative psychosocial functioning was unrelated to objective pectus excavatum severity (computed tomographic index). Patients and their parents reported significant positive postoperative changes. Improvements occurred in both physical and psychosocial functioning, including less social self-consciousness and a more-favorable body image. For children, the body image component improved from 2.30+/-0.62 (mean+/-SD) to 1.40+/-0.42 after surgery and the physical difficulties component improved from 2.11+/-0.82 to 1.37+/-0.44. For the parent questionnaire, the child's emotional difficulties improved from 1.81+/-0.70 to 1.24+/-0.36, social self-consciousness improved from 2.86+/-1.03 to 1.33+/-0.68, and physical difficulties improved from 2.14+/-0.75 to 1.32+/-0.39. Ninety-seven percent of patients thought that surgery improved how their chest looked. Surgical repair of pectus excavatum can significantly improve the body image difficulties and limitations on physical activity experienced by patients. These results should prompt physicians to consider the physiologic and psychological implications of pectus excavatum just as they would any other physical deformity known to

  2. [Preliminary results in the correction of the pectus excavatum with the Acastello modified Welch technique].

    PubMed

    Lorenzo, G R; Gutiérrez Dueñas, J M; Ardela, E; Martín Pinto, F

    2011-10-01

    Congenital malformations of the chest wall are a heterogeneous group of diseases affecting the costal cartilage, ribs, sternum, scapula and clavicle. The pectus excavatum is characterized by a posterior depression of the sternum. Acastello-Welch technique consists in a partial resection of the costal cartilages adding some bars or plates unilaterally fixed to the sternum in each hemithorax. From October 2008 to March 2011 we evaluated 108 patients with congenital malformations of the chest wall. Forty-seven patients (44%) had a pectus excavatum and 12 were treated with Acastello-Welch technique. There were no intraoperative complications. After a mean follow up of 27 months, correction of the deformity was very satisfactory both objective and subjective for patients. The Welch thoracoplasty modified by Acastello is a good option for the correction of the pectus excavatum associating little morbidity and good esthetic outcomes.

  3. Pectus excavatum in children: pulmonary scintigraphy before and after corrective surgery

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Blickman, J.G.; Rosen, P.R.; Welch, K.J.

    1985-09-01

    Regional distribution of pulmonary function was evaluated preoperatively and postoperatively with xenon-133 perfusion and ventilation scintigraphy in 17 patients with pectus excavatum. Ventilatory preoperative studies were abnormal in 12 of 17 patients, resolving in seven of 12 postoperatively. Perfusion scans were abnormal in ten of 17 patients preoperatively; six of ten showed improvement postoperatively. Ventilation-perfusion ratios were abnormal in ten of 17 patients, normalizing postoperatively in six of ten. Symmetry of ventilation-perfusion ratio images improved in six out of nine in the latter group. The distribution of regional lung function in pectus excavatum can be evaluated preoperatively to support indicationsmore » for surgery. Postoperative improvement can be documented by physiological changes produced by the surgical correction.« less

  4. Pectus excavatum from a pediatric surgeon’s perspective

    PubMed Central

    Obermeyer, Robert J.; Kelly, Robert E.

    2016-01-01

    Historically, pectus excavatum (PE) was reported to be congenital, but in our experience only 22% are noticed in the first decade of life. Thus far, genetic studies support an autosomal recessive heritability, which coincides with only 40% of our patients having some positive family history, but is also contradictory given a constant sex ratio of 4:1 in favor of males. This inconsistency may be explained by the effect of more than one pectus disease-associated allele. Once the deformity is noticed, it tends to progress slowly until puberty, when rapid progression is often seen. We recommend surgical repair at around 12–14 years of age since the chest wall is still typically flexible and because this allows us to keep the bar in place as the patient progresses through puberty which may help decrease growth-related recurrences. Patients with mild to moderate PE are treated with therapeutic deep breathing, posturing, and aerobic exercises, and in appropriately selected patients, the vacuum bell may also be offered. Patients that have severe symptomatic PE are offered Minimally Invasive Repair of Pectus Excavatum (MIRPE). The surgical technique in children is similar to that of adults, except for the higher forces involved that often necessitate sternal elevation and more involved stabilization strategies. Postoperative management includes pain control, deep breathing, and early ambulation. Exercise restriction is mandatory for the first six weeks with slow resumption of normal activity after 12 weeks. PMID:27747183

  5. A cross-sectional study for the development of growth of patients with pectus excavatum.

    PubMed

    Park, Hyung Joo; Kim, Jae Jun; Park, Jae Kil; Moon, Seok Whan

    2016-12-01

    Pectus excavatum is one of the most common congenital chest wall deformities, and is thought to be one of the musculoskeletal diseases. There have been few studies on the development of growth of patients with pectus excavatum. The objectives of the present study were to present the development of growth of patients with pectus excavatum and to investigate the effects of the Nuss procedure on the development of growth. Data from 1371 patients who were treated for pectus excavatum (411 patients for only the Nuss procedure, 316 patients for only bar removal and 322 patients for both the Nuss procedure and the bar removal) at the Department of Thoracic and Cardiovascular Surgery in a single tertiary Korean Hospitals from March 2011 to December 2014 were assessed with respect to body measurements [height, weight and body mass index (BMI)]. Anthropometric measurements and developmental data and deviations of a reference population were analysed by the Fifth Korea National Health and Nutrition Examination Survey (KNHANES V-3), 2011-2013, Korea Centers for Disease Control and Prevention. To analyse the development of growth in patients with pectus excavatum, we performed (i) comparisons of body measurements between patients with pectus excavatum and the normal population, (ii) analyses of postoperative changes in the body measurements and (iii) analyses of the body measurements with respect to age at surgery, morphology and severity. (i) Body measurements of the preoperative group (PreG, patients for the Nuss procedure) were significantly smaller than those of the normal control group (NCG) (height 139.2 ± 0.4 vs 140.7 ± 0.0, weight 37.4 ± 0.3 vs 39.6 ± 0.0, BMI 17.5 ± 0.1 vs 18.6 ± 0.0, all P < 0.001). Weight and BMI of the postoperative group (PostG, patients for pectus bar removal) were also significantly smaller than those of NCG (weight 36.6 ± 0.4 vs 39.6 ± 0.0, BMI 17.4 ± 0.1 vs 18.6 ± 0.0, both P < 0.001). However, height of PostG was not significantly

  6. Repair of Pectus Excavatum and Carinatum Deformities in 116 Adults

    PubMed Central

    Fonkalsrud, Eric W.; DeUgarte, Daniel; Choi, Edmund

    2002-01-01

    Objective To determine the feasibility of surgically correcting pectus excavatum and carinatum deformities in adult patients. Summary Background Data Although pectus chest deformities are common, many patients progress to adulthood without surgical repair and experience increasing symptoms. There are sparse published data regarding repair of pectus deformities in adults. Methods Since 1987, 116 patients over the age of 18 years with pectus excavatum (n = 104) or carinatum (n = 12) deformities underwent correction using a highly modified Ravitch repair, with a temporary internal support bar. The ages ranged from 19 to 53 years (mean 30.1). Eighty-six patients sought repair after reviewing information regarding pectus deformities available on the Internet. Each patient experienced dyspnea with mild exertion and decreased endurance; 84 had chest pain with activity; 75 had palpitations and/or tachycardia. Seven patients underwent repair for symptomatic recurrent deformities. The mean severity score (chest width divided by distance from sternum to spine) was 4.8. The sternal bar was removed from 101 patients 6 months after the repair without complications. Results Each of the patients with reduced endurance or dyspnea with mild exercise experienced marked improvement within 6 months. Chest discomfort was reduced in 82 of the 84 patients. Complications included pleural effusion (n = 7), pneumothorax (n = 2), pericarditis (n = 2), dislodged sternal bar (n = 3), and mildly hypertrophic scar (n = 12). Mean hospitalization was 2.9 days; mean blood loss was 122 mL. Pain was mild and of short duration (intravenous analgesics were used a mean of 2.1 days). There were no deaths. With a mean follow-up of 4.3 years, 109 of 113 respondents had a very good or excellent result. Conclusions Although technically more difficult than in children, pectus deformities may be repaired in adults with low morbidity, short hospital stay, and very good physiologic and cosmetic results. PMID

  7. Pectus excavatum: history, hypotheses and treatment options

    PubMed Central

    Brochhausen, Christoph; Turial, Salmai; Müller, Felix K.P.; Schmitt, Volker H.; Coerdt, Wiltrud; Wihlm, Jean-Marie; Schier, Felix; Kirkpatrick, C. James

    2012-01-01

    Pectus excavatum and pectus carinatum represent the most frequent chest wall deformations. However, the pathogenesis is still poorly understood and research results remain inconsistent. To focus on the recent state of knowledge, we summarize and critically discuss the pathological concepts based on the history of these entities, beginning with the first description in the sixteenth century. Based on the early clinical descriptions, we review and discuss the different pathogenetic hypotheses. To open new perspectives for the potential pathomechanisms, the embryonic and foetal development of the ribs and the sternum is highlighted following the understanding that the origin of these deformities is given by the disruption in the maturation of the parasternal region. In the second, different therapeutical techniques are highlighted and based on the pathogenetic hypotheses and the embryological knowledge potential new biomaterial-based perspectives with interesting insights for tissue engineering-based treatment options are presented. PMID:22394989

  8. Pure pectus carinatum (not associated with pectus excavatum) solved by MIRPC (minimally invasive repair of pectus carinatum) associated with bilateral mamarian hypoplasia solved by bilateral breast implants.

    PubMed

    Ciurea, M; Ulmeanu, D; Popa, D; Mercuţ, R; Enache, M; Vânvu, A L; Demetrian, A

    2014-01-01

    We present the case of a young 24-year-old woman with an important but symmetrical pectus carinatum, not associated with pectus excavatum, without cardiorespiratory symptoms but with significant psychosocial implications for the patient, solved by the minimally invasive technique described by Abramson(reversed Nuss procedure) - MIRPC (Minimally invasive Repair of Pectus carinatum). The sternal malformation was associated with bilateral mammary hypoplasia, solved by bilateral breast implants 10 months later. The evolution was favorable and the aesthetic result was satisfactory for the patient. Celsius.

  9. Trace metal release after minimally-invasive repair of pectus excavatum.

    PubMed

    Fortmann, Caroline; Göen, Thomas; Krüger, Marcus; Ure, Benno M; Petersen, Claus; Kübler, Joachim F

    2017-01-01

    Several studies have shown a high incidence of metal allergy after minimally-invasive repair of pectus excavatum (MIRPE). We postulated that MIRPE is associated with a significant release of trace metal ions, possibly causing the allergic symptoms. We evaluated the concentration with chromium, cobalt and nickel in blood, urine and tissue in patients prior to MIRPE and in patients who underwent an explantation of the stainless-steel bar(s) after three years. Our study group consisted of 20 patients (mean age 19 years) who had bar explantation and our control group included 20 patients (mean age 16 years) prior to MIRPE. At the time of bar removal we detected significantly elevated concentrations of chromium and nickel in the tissue compared to patients prior to the procedure (p<0,001). We also found a significant increase in the levels of chromium in urine and nickel in blood in patients three years post MIRPE (p<0,001). Four patients temporarily developed symptoms of metal allergy, all had elevated metal values in blood and urine at explantation. Minimally-invasive repair of pectus excavatum can lead to a significant trace metal exposure.

  10. Trace metal release after minimally-invasive repair of pectus excavatum

    PubMed Central

    Göen, Thomas; Krüger, Marcus; Ure, Benno M.; Petersen, Claus; Kübler, Joachim F.

    2017-01-01

    Background Several studies have shown a high incidence of metal allergy after minimally-invasive repair of pectus excavatum (MIRPE). We postulated that MIRPE is associated with a significant release of trace metal ions, possibly causing the allergic symptoms. Methods We evaluated the concentration with chromium, cobalt and nickel in blood, urine and tissue in patients prior to MIRPE and in patients who underwent an explantation of the stainless-steel bar(s) after three years. Results Our study group consisted of 20 patients (mean age 19 years) who had bar explantation and our control group included 20 patients (mean age 16 years) prior to MIRPE. At the time of bar removal we detected significantly elevated concentrations of chromium and nickel in the tissue compared to patients prior to the procedure (p<0,001). We also found a significant increase in the levels of chromium in urine and nickel in blood in patients three years post MIRPE (p<0,001). Four patients temporarily developed symptoms of metal allergy, all had elevated metal values in blood and urine at explantation. Conclusions Minimally-invasive repair of pectus excavatum can lead to a significant trace metal exposure. PMID:29023602

  11. Casting the implant for reconstruction of pectus excavatum.

    PubMed

    Hougaard, G; Svensson, H; Holmqvist, K G

    1995-09-01

    Fourteen patients with pectus excavatum underwent a total of 17 operations for the insertion of subcutaneous implants aimed at camouflaging their defects. A silicone prosthesis in one patient early in the series caused severe capsular formation. Although a block of Proplast may occasionally be used with success, the rational solution to the problem is to produce a custom made Silastic implant that adheres optimally to the defect in each individual case. This retrospective study shows that a subcutaneous implant clearly improves the appearance of the chest wall in most of the patients.

  12. Measurement of sternal curvature angle on patients with pectus excavatum.

    PubMed

    Lee, Cory; Zavala-Garcia, Abraham; Teekappanavar, Neha; Lee, Catherine; Idowu, Olajire; Kim, Sunghoon

    2017-01-01

    Pectus excavatum (PE) is a chest deformity characterized by marked sternal depression. The objective of this study was to quantify the sternal curvature observed in patients diagnosed with PE using the sternal curvature angle (SCA). A retrospective review of lateral chest X-rays of patients with PE from 2006 to 2013 was performed. The SCA was measured in a manner similar to the method of Cobb's angle is used to measure spinal curvature. SCA and Haller index were calculated from the chest X-rays for all patients. Lateral chest X-rays of 202 PE and 196 normal control patients were analyzed. The mean SCA ± SD of PE patients was 40.56° ± 12.88° compared to 22.02° ± 7.65° for normal patients. The difference was statistically significant with a p value of <0.0001. No significant concordance between SCA and Haller index measurements in the PE group was found (Kendall τ = -0.00015, p value = 0.9975). The difference in sternal curvature as measured by the sternal curvature angle between the pectus excavatum and normal patients was statistically significant. Our data suggest that sternal depression evident in PE patients is not a simple linear depression of the sternum but due to curvature in the sternal body.

  13. Pectus excavatum repair from a plastic surgeon's perspective.

    PubMed

    Schwabegger, Anton H

    2016-09-01

    Minimally invasive repair of pectus excavatum (MIRPE) or similar procedures for pectus excavatum (PE) repair, nowadays no longer performed by one single speciality, may not always achieve sufficient aesthetic results, particularly in the infrapectoral or infraxiphoidal region. Reasons for this include the diaphragm inhibiting correct positioning of the bars, as well as asymmetric deformities which may still be present after remodelling attempts. Furthermore, some cases develop a mild recurrence or partial concavity once the correction bar is removed. However, any secondary re-do MIRPE procedure remains risky because of adhesions between the pleura, lung, pericardium, thoracic wall as residuals from the primary intervention. Treatment options as secondary correction for these deformities may include open access surgery, resection or reshaping of deformed costal cartilage. Moreover, augmentation of a residual concave area can be achieved by autologous transplantation of resected over-abundant cartilage, as well as by liposhifting or implantation of customized alloplastics. A physician dealing with PE corrections should be familiar with various shaping and complementary reconstructive techniques in order to provide the best options for a variety of expressions of anterior wall deformities. Among treating surgeons, there is an awareness that no single method can be applied for every kind of funnel chest deformity. An appropriate technique, either as a single approach for the ordinary deformities or in conjunction with ancillary procedures for the intricate cases, should be selected carefully based on the heterogeneity of symptoms, severity, expectations and surgical skill in addition to the available equipment. Out of a variety of such ancillary procedures available and based on experience within general plastic reconstructive surgery, some techniques for PE repair are explained and illustrated here with their advantages and disadvantages.

  14. Pectus excavatum and pectus carinatum patients suffer from lower quality of life and impaired body image: a control group comparison of psychological characteristics prior to surgical correction.

    PubMed

    Steinmann, Cornelia; Krille, Stefanie; Mueller, Astrid; Weber, Peter; Reingruber, Bertram; Martin, Alexandra

    2011-11-01

    The aim of this study was to evaluate the effects of anterior chest-wall deformities on disease-specific and health-related quality of life, body image, and psychiatric comorbidity prior to surgical correction. A total of 90 patients (71 with pectus excavatum, 19 with pectus carinatum) presenting themselves for pectus repair and 82 control subjects were recruited for this study. The objective severity of the deformity was determined through the funnel-chest index by Hümmer and the Haller index. Disease-specific quality of life was measured with the Nuss Questionnaire modified for Adults (NQ-mA) and health-related quality of life was determined by the Short-Form-36 Health Survey (SF-36). Body image was assessed via the Body Image Questionnaire (FKB-20), the Dysmorphic Concern Questionnaire (DCQ), and a self-evaluation of the subjective impairment of the appearance. The Diagnostic Interview for Mental Disorders - Short Version (Mini-DIPS), the General Depression Scale (Allgemeine Depressionsskala, ADS), and a self-rating of self-esteem were used to evaluate general psychological impairment. Compared with control group results, physical quality of life was reduced in patients with pectus excavatum, while mental quality of life was decreased in patients with pectus carinatum (p<0.05). Body image was highly disturbed in all the patients and differed significantly from the control group (p<0.01). Patients with pectus carinatum appeared to be less satisfied with their appearance than those with pectus excavatum (p=0.07). Body image distress was multivariately associated with both reduced mental quality of life and low self-esteem (p<0.001). Body image did not influence physical quality of life. Patients displayed no elevated rates of mental disorders according to Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) criteria. Since self-perception is a major contributor to therapeutic decision making, a systematic evaluation of body image should

  15. Outcomes in adult pectus excavatum patients undergoing Nuss repair

    PubMed Central

    Ewais, MennatAllah M; Chaparala, Shivani; Uhl, Rebecca

    2018-01-01

    Pectus excavatum (PEx) is one of the most common congenital chest wall deformities. Depending on the severity, presentation of PEx may range from minor cosmetic issues to disabling cardiopulmonary symptoms. The effect of PEx on adult patients has not been extensively studied. Symptoms may not occur until the patient ages, and they may worsen over the years. More recent publications have implied that PEx may have significant cardiopulmonary implications and repair is of medical benefit. Adults presenting for PEx repair can undergo a successful repair with a minimally invasive “Nuss” approach. Resolution of symptoms, improved quality of life, and satisfying results are reported. PMID:29430201

  16. A new sternum elevator reduces severe complications during minimally invasive repair of the pectus excavatum.

    PubMed

    Takagi, Satoshi; Oyama, Takuto; Tomokazu, Nishihira; Kinoshita, Koji; Makino, Taro; Ohjimi, Hiroyuki

    2012-06-01

    Although the Nuss procedure for pectus excavatum is widely employed, a variety of complications have been reported with relatively high frequency; those that involve cardiac and pericardial injuries can be life threatening. To reduce such dangers, we present here a newly developed sternal elevator. The elevator is horseshoe shaped. Its elevator side has the same curvature as a Nuss introducer, so that interference between devices is minimal and no extra skin incision is needed for the elevator insertion. The elevator holds the sternum forward and enlarges the retrosternal space for safer passage of thoracoscopically guided introducer. The authors have used the elevator for 61 pectus excavatum cases between March 2004 and December 2009 without any major complications. The entire process of substernal tunneling was endoscopically observed, which eliminated any blunt and blind dissection, even in a significantly depressed funnel chest case. With the device, the sternum was effectively elevated again for the placement of the second plate in 30 cases. Our newly developed sternum elevator makes the Nuss procedure safer and more affordable without introducing any extra scarring.

  17. Pectus excavatum repair from a plastic surgeon’s perspective

    PubMed Central

    2016-01-01

    Minimally invasive repair of pectus excavatum (MIRPE) or similar procedures for pectus excavatum (PE) repair, nowadays no longer performed by one single speciality, may not always achieve sufficient aesthetic results, particularly in the infrapectoral or infraxiphoidal region. Reasons for this include the diaphragm inhibiting correct positioning of the bars, as well as asymmetric deformities which may still be present after remodelling attempts. Furthermore, some cases develop a mild recurrence or partial concavity once the correction bar is removed. However, any secondary re-do MIRPE procedure remains risky because of adhesions between the pleura, lung, pericardium, thoracic wall as residuals from the primary intervention. Treatment options as secondary correction for these deformities may include open access surgery, resection or reshaping of deformed costal cartilage. Moreover, augmentation of a residual concave area can be achieved by autologous transplantation of resected over-abundant cartilage, as well as by liposhifting or implantation of customized alloplastics. A physician dealing with PE corrections should be familiar with various shaping and complementary reconstructive techniques in order to provide the best options for a variety of expressions of anterior wall deformities. Among treating surgeons, there is an awareness that no single method can be applied for every kind of funnel chest deformity. An appropriate technique, either as a single approach for the ordinary deformities or in conjunction with ancillary procedures for the intricate cases, should be selected carefully based on the heterogeneity of symptoms, severity, expectations and surgical skill in addition to the available equipment. Out of a variety of such ancillary procedures available and based on experience within general plastic reconstructive surgery, some techniques for PE repair are explained and illustrated here with their advantages and disadvantages. PMID:27747184

  18. Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction.

    PubMed

    Kuru, Pinar; Cakiroglu, Aylin; Er, Aynur; Ozbakir, Hincal; Cinel, Ali Emin; Cangut, Busra; Iris, Merve; Canbaz, Berkay; Pıçak, Ebru; Yuksel, Mustafa

    2016-02-01

    Pectus excavatum (PE) and pectus carinatum (PC) are the most common chest wall deformities. In this study, we aimed to characterize how patients obtained information about these deformities, as well as patients' family history, associated medical problems, and postoperative satisfaction after the Nuss and Abramson procedures. This cross-sectional retrospective study included patients who were operated by a single surgeon between 2006 and 2013. Follow-up calls were made after approval of our institution's ethics committee. We reached 207 of the 336 PE patients (61.6%) and 73 of the 96 PC patients (76%). The majority of the patients were male (85% of the PE patients and 91.8% of the PC patients). The age of diagnosis of PE was 14.52±0.51 years and the age at the time of operation was 17.89±0.42 years; for PC patients, the corresponding ages were 15.23±0.55 years and 16.77±0.55 years, respectively. A total of 70% of the PE patients and 63.8% of the PC patients obtained information about pectus deformities through the Internet. In 27.1% of the PE patients with an associated anomaly, 57.1% (n=13) had scoliosis, while 41.1% of the PC patients with an associated anomaly had kyphosis (n=5). Postoperative satisfaction, as evaluated on a scale from 0 to 10, was 8.17±0.15 for PE patients and 8.37±0.26 for PC patients. The postoperative pain duration was 51.93±5.18 days for PE patients and 38.5±6.88 days for PC patients. In this study, we found that most patients with pectus deformities were male. The Internet was an important resource for patients to learn about their deformities. Family history and associated anomalies were identified as important aspects for consideration in the clinical setting. The patients reported high levels of postoperative satisfaction, and pain management was found to be one of the most important elements of postoperative care.

  19. Pectus Excavatum and Pectus Carinatum: Associated Conditions, Family History, and Postoperative Patient Satisfaction

    PubMed Central

    Kuru, Pinar; Cakiroglu, Aylin; Er, Aynur; Ozbakir, Hincal; Cinel, Ali Emin; Cangut, Busra; Iris, Merve; Canbaz, Berkay; Pıçak, Ebru; Yuksel, Mustafa

    2016-01-01

    Background Pectus excavatum (PE) and pectus carinatum (PC) are the most common chest wall deformities. In this study, we aimed to characterize how patients obtained information about these deformities, as well as patients’ family history, associated medical problems, and postoperative satisfaction after the Nuss and Abramson procedures. Methods This cross-sectional retrospective study included patients who were operated by a single surgeon between 2006 and 2013. Follow-up calls were made after approval of our institution’s ethics committee. We reached 207 of the 336 PE patients (61.6%) and 73 of the 96 PC patients (76%). Results The majority of the patients were male (85% of the PE patients and 91.8% of the PC patients). The age of diagnosis of PE was 14.52±0.51 years and the age at the time of operation was 17.89±0.42 years; for PC patients, the corresponding ages were 15.23±0.55 years and 16.77±0.55 years, respectively. A total of 70% of the PE patients and 63.8% of the PC patients obtained information about pectus deformities through the Internet. In 27.1% of the PE patients with an associated anomaly, 57.1% (n=13) had scoliosis, while 41.1% of the PC patients with an associated anomaly had kyphosis (n=5). Postoperative satisfaction, as evaluated on a scale from 0 to 10, was 8.17±0.15 for PE patients and 8.37±0.26 for PC patients. The postoperative pain duration was 51.93±5.18 days for PE patients and 38.5±6.88 days for PC patients. Conclusion In this study, we found that most patients with pectus deformities were male. The Internet was an important resource for patients to learn about their deformities. Family history and associated anomalies were identified as important aspects for consideration in the clinical setting. The patients reported high levels of postoperative satisfaction, and pain management was found to be one of the most important elements of postoperative care. PMID:26889443

  20. Serum metal levels after minimally invasive repair of pectus excavatum.

    PubMed

    Cundy, Thomas P; Kirby, Christopher P

    2012-08-01

    Metal implants may wear and corrode, resulting in systemic dissemination of metallic debris that is measurable in serum. Concern exists regarding adverse health effects related to implant-derived debris. Minimally invasive repair of pectus excavatum (MIRPE) is a popular technique in which a stainless steel substernal bar is implanted to achieve deformity correction. Serum metal levels have not previously been investigated after MIRPE. Serum chromium, molybdenum, and nickel levels were measured in this cross-sectional study of 11 children implanted with pectus bars after MIRPE. Samples were analyzed using high-resolution inductively coupled plasma mass spectrometry. Median serum chromium and nickel values were elevated 3.3-fold (P = .0003) and 2.3-fold (P = .25), respectively, compared with age-matched controls. Serum chromium and nickel levels were abnormally elevated in 6 (55%) of 11 and 5 (45%) of 11, respectively. In patients whom postexplantation metal levels were measured, previously elevated levels were lowered. Serum chromium levels in children after MIRPE are comparable with adult cohorts with hip arthroplasty implants measured 1-year postoperatively. No acute metal toxicity was observed. Abnormally elevated levels of serum metal levels are measurable in children implanted with pectus bars. These findings warrant further investigation to assess the biocompatibility of this surgical implant in children. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Metal/polymer composite Nuss bar for minimally invasive bar removal after Pectus Excavatum treatment: FEM simulations.

    PubMed

    Ricotti, Leonardo; Ciuti, Gastone; Ghionzoli, Marco; Messineo, Antonio; Menciassi, Arianna

    2014-12-01

    This study aims at assessing the mechanical behavior of a composite metal/polymer bar to be implanted in the retrosternal position, in order to correct chest wall deformities, such as Pectus Excavatum. A 300-mm-long, 12.7-mm-wide, and 3.5-mm-thick Nuss bar was considered, made of different metals and biodegradable polymers, fixed at its extremities, and with a constant force of 250 N applied on its center. Two different geometries for the metal elements to be embedded in the polymeric matrix were tested: in the former, thin metal sheets and in the latter, cylindrical metal reinforcing rods were considered. Finite element method simulation results are reported, in terms of maximum stress and strain of the bar. Furthermore, the maximum stress values obtained by varying metal sheet thickness or rod diameter (and therefore the volumetric percentage of metal within the matrix) for different material combinations are also shown; optimal configuration for the Pectus Excavatum treatment was finally identified for a composite Nuss bar. Copyright © 2014 John Wiley & Sons, Ltd.

  2. Modification of the Nuss procedure for pectus excavatum to prevent cardiac perforation.

    PubMed

    Ohno, Koichi; Nakamura, Tetsuro; Azuma, Takashi; Yamada, Hiroto; Hayashi, Hiroaki; Masahata, Kazunori

    2009-12-01

    In a few patients, cardiac perforation and aortic injury have occurred during the Nuss procedure for pectus excavatum. The article details a modification of this procedure that enables the prevention of fatal complications. Our subjects were 22 males and 13 females with pectus excavatum who were aged 8.2 +/- 3.7 years. Their Haller's computed tomography index was 5.2 +/- 1.5. An introducer is inserted into the pleura between the sternum and thymus instead of the thoracic depression under right thoracoscopic guidance. After the introducer reaches the internal cranial position of the left nipple, the thoracoscope is shifted to the left thoracic cavity. The introducer is subsequently guided to the left highest intercostal space under left thoracoscopic guidance. A single bar was inserted in 34 patients; 2 bars were required in 1 patient. The operating time was 95 +/- 27 minutes and blood loss was 11 +/- 6 g. Cardiac perforation did not occur in any patient. Our modified technique has certain advantages: (1) the introducer does not rub against the pericardium and heart; (2) the tip of the introducer can be observed at all times with a thoracoscope; (3) the anterior mediastinum between the left and right thoracic cavities is very narrow at the cranial level; (4) the introducer can be accurately directed to the left highest intercostal space; and (5) hemostasis and no injury of the bilateral thoracic organs can be confirmed.

  3. Body Disfigurement and the Quality of Life of Adolescents with Pectus Excavatum: Effects of the Nuss Procedure

    ERIC Educational Resources Information Center

    Roberts, Jillian; MacMath, Sheryl; English, Margot; Martin, Joan; Hayashi, Al; Sigalet, David L.

    2006-01-01

    This article takes a comprehensive look at the effects of pectus excavatum, a congenital deformity with psychosocial and physical ramifications, and the Nuss procedure on the quality of life of adolescents. The Nuss procedure is a minimally invasive corrective surgery. Twenty-five participants from Calgary, Alberta were interviewed (10 adolescents…

  4. Clinical experience of repair of pectus excavatum and carinatum deformities.

    PubMed

    Oncel, Murat; Tezcan, Bekir; Akyol, Kazim Gurol; Dereli, Yüksel; Sunam, Güven Sadi

    2013-09-01

    We present the results of surgical correction of pectus excavatum (PE) and pectus carinatum (PC) deformities in adults, and also report a new method of sternal support used in surgery for PE deformities. We present the results of 77 patients between the ages of 10 and 29 years (mean 17) with PE (n = 46) or PC (n = 31) deformities undergoing corrective surgery from 2004 to 2011, using the Ravitch repair method. Symptoms of the patients included chest pain (15%) and tachycardia (8%). Three patients underwent repair of recurrent surgical conditions. All of the patients with dyspnoea with exercise experienced marked improvement at five months post operation. Complications included pneumothorax in 5.1% (n = 4), haemothorax in 2.6% (n = 2), chest discomfort in 57% (n = 44), pleural effusion in 2.6% (n = 2), and sternal hypertrophic scar in 27% (n = 21) of patients. Mean hospitalisation was eight days. Pain was mild and intravenous analgesics were used for a mean of four days. There were no deaths. Results after surgical correction were very good or excellent in 62 patients (80%) at a mean follow up of three years. Three patients had recurrent PE and were repaired with the Nuss procedure. In three patients who underwent the Ravitch procedure, a stainless steel bar was used for sternal support instead of Kirschner wire. Pectus deformities may be repaired with no mortality, low morbidity, very good cosmetic results and improvement in cardiological and respiratory symptoms.

  5. Evaluation of sternochondroplasty efficacy in treatment of pectus deformities.

    PubMed

    Bagheri, Reza; Haghi, Seyed Ziaollah; Nouri Dalouee, Marzie; Ebrahimi, Kolsoumeh; Rajabnejad, Ata'ollah

    2015-02-01

    This study aimed to evaluate the efficacy of sternochondroplasty for repair of pectus deformities. Thirty-three patients underwent repair of pectus deformity with a sternochondroplasty technique between 1989 and 2009. Studied variables were age, sex, symptoms, pulmonary function tests before and after surgery, Haller index, complications, recurrence, and cosmetic results. The median age at operation was 13.27 years. Twenty patients (13 male and 7 female) had pectus excavatum, and 13 (11 male and 2 female) had pectus carinatum. Congenital anomalies associated with pectus excavatum included a skeletal anomaly in 6 (30%) patients and a cardiac anomaly in 4 (20%); only 1 patient with pectus carinatum had cardiac anomaly. Inspiratory vital capacity and forced expiratory volume in 1 s were significantly different before and after surgery in patients with pectus excavatum, but there was no significant difference in functional residual capacity. Pulmonary function tests showed no significant differences before and after surgery in patients with pectus carinatum. Complications after surgery were seroma in 2 cases and 1 case each of pneumothorax and atelectasis. Recurrence was observed in 2 cases of pectus excavatum. The cosmetic result was excellent in 93.9% of cases. Hospital mortality was zero. Sternochondroplasty is a desirable procedure for repairing pectus deformities. This procedure has minimal complications and the cosmetic and physiologic results are excellent. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  6. Minimally invasive thoracoscopic repair of unilateral pectus carinatum.

    PubMed

    Kim, Sunghoon; Idowu, Olajire

    2009-02-01

    Thoracoscopic repair of pectus excavatum as described by Nuss has become a well established method of repair. However, minimally invasive intrathoracic repair of pectus carinatum has not been reported in literature. We report a case of successful thoracoscopic repair of unilateral pectus carinatum.

  7. Modified nuss procedure in concurrent repair of pectus excavatum and open heart surgery.

    PubMed

    Sacco Casamassima, Maria Grazia; Wong, Ling Ling; Papandria, Dominic; Abdullah, Fizan; Vricella, Luca A; Cameron, Duke E; Colombani, Paul M

    2013-03-01

    Pectus excavatum (PE) can be associated with congenital and acquired cardiac disorders that also require surgical repair. The timing and specific surgical technique for repair of PE remains controversial. The present study reports the experience of combined repair of PE and open heart surgery at Johns Hopkins Hospital. A retrospective case review was conducted of all patients who presented for repair of PE deformity while undergoing concurrent open heart surgery from 1998 through 2011. A total of 9 patients met inclusion criteria. All patients had a connective tissue disorder. Repair of PE was performed by modified Nuss technique after completion of the cardiac procedure, performed through a median sternotomy. Open heart procedures were either aortic root replacement or mitral valvuloplasty. Eight patients had bar removal after an average period of 30.3 months. No PE recurrence, bar displacement, or upper sternal depression was reported in 7 patients. Postoperatively, 1 patient exhibited pectus carinatum after a separate spinal fusion surgery for scoliosis. One patient died of unrelated cardiac complications before bar removal. Simultaneous repair of PE and open heart surgery is safe and effective. We recommend that the decision to perform a single-stage versus a multistage procedure should be reserved until after the cardiac procedure has been completed. In such cases, the Nuss technique allows for correction of the pectus deformity with good long-term cosmetic and functional results. Copyright © 2013 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  8. Minimally invasive repair of pectus excavatum (MIRPE) in adults: is it a proper choice?

    PubMed Central

    Demirkaya, Ahmet; Kılıç, Burcu; Kara, Hasan Volkan; Yakşi, Osman; Alizade, Nurlan; Demirhan, Özkan; Sayılgan, Cem; Turna, Akif; Kaynak, Kamil

    2016-01-01

    Introduction The Nuss procedure is suitable for prepubertal and early pubertal patients but can also be used in adult patients. Aim To determine whether the minimally invasive technique (MIRPE) can also be performed successfully in adults. Material and methods Between July 2006 and January 2016, 836 patients (744 male, 92 female) underwent correction of pectus excavatum with the MIRPE technique at our institution. The mean age was 16.8 years (2–45 years). There were 236 adult patients (28.2%) (> 18 years) – 20 female, 216 male. The mean age among the adult patients was 23.2 years (18–45 years). The recorded data included length of hospital stay, postoperative complications, number of bars used, duration of the surgical procedure and signs of pneumothorax on the postoperative chest X-ray. Results The MIRPE was performed in 236 adult patients. The average operative time was 44.4 min (25–90 min). The median postoperative stay was 4.92 ±2.81 days (3–21 days) in adults and 4.64 ±1.58 (2–13) in younger patients. The difference was not statistically significant (p = 0.637). Two or more bars were used in 36 (15.8%) adult patients and in 44 (7.5%) younger patients. The difference was not statistically significant either (p = 0.068). Regarding the overall complications, complication rates among the adult patients and younger patients were 26.2% and 11.8% respectively. The difference was statistically significant (p = 0.007). Conclusions MIRPE is a feasible procedure that produces good long-term results in the treatment of pectus excavatum in adults. PMID:27458490

  9. Minimal invasive extrathoracic presternal compression using a metal bar for correction of pectus carinatum.

    PubMed

    Lee, Seock Yeol; Song, In Hag; Lee, Seung Jin

    2014-01-01

    This report presents early results of surgical experience of minimal invasive extrathoracic presternal compression using a metal bar for correction of the pectus carinatum. From February 2008 to February 2012, 15 patients with combined pectus carinatum and pectus excavatum underwent minimal invasive extrathoracic presternal compression using a metal bar for correction of pectus carinatum and Nuss operation for pectus excavatum. After 2 years, bar removal was done in all patients. In this paper, we focused on pectus carinatum repair. The effects and complications of the minimally invasive extrathoracic presternal compression using a metal bar for correction of pectus carinatum were reviewed. The median age was 15.7 years. The mean operation time for pectus carinatum with pectus excavatum was 122 min. The median length of hospitalization was 6 days. The Haller pectus index of pectus carinatum was 2.93 ± 0.36 pre-operatively and this was increased to 3.33 ± 0.61 post-operatively. There were no special complications. The degree of satisfaction of pectus carinatum correction was 3.75 ± 0.46 (range 1-4). Our results were favorable in spite of the small number of cases and short follow-up, and our modified technique of pectus carinatum was easy and simple. However, long-term follow-up is needed to accurately evaluate the effects of this surgery in many cases.

  10. [Pectus excavatum: what treatment in plastic surgery? About 10 cases].

    PubMed

    Poupon, M; Duteille, F; Casanova, D; Caye, N; Magalon, G; Pannier, M

    2008-06-01

    Several controversial issues concern pectus excavatum (funnel chest), the most common chest wall deformity. The pathogenesis of this deformity is uncertain, and there is no agreement as to its psychological, cardiac and pulmonary effects. An even more debatable point is the choice of surgical treatment among the more or less radical proposals made by different teams. No consensus exists concerning the indications for surgery, the technique to be used, or the suitable age of the patient. This retrospective study concerns 10 patients with funnel chest who underwent reconstruction surgery in our unit between 1989 and 2002. Nine patients received a silicone chest implant made to measure, and one a single breast implant. Each patient was interviewed and examined to obtain information and provide a basis for evaluation. The effects of possible associated abnormalities were evidenced by complementary cardiopulmonary examinations, and the severity of funnel chest was evaluated according to the Haller pectus index. The mean period after surgery was 5 years. The effects of funnel chest deformity were essentially psychological, relating to aesthetic disgrace. Although two-thirds of the deformities were considered severe, cardiopulmonary repercussions were minor. All 10 patients were satisfied with the repair performed, and this judgment was independent of surgical assessment. Acute complications concerned 5 seromas and one minimal scar separation. The indications for surgery and the means of surgical treatment for funnel chest are considered after comparison of our results with those in the literature and a survey of the different existing possibilities for treatment (implant, chondrosternoplasty, fat transplant).

  11. Multicenter study of pectus excavatum, final report: complications, static/exercise pulmonary function, and anatomic outcomes.

    PubMed

    Kelly, Robert E; Mellins, Robert B; Shamberger, Robert C; Mitchell, Karen K; Lawson, M Louise; Oldham, Keith T; Azizkhan, Richard G; Hebra, Andre V; Nuss, Donald; Goretsky, Michael J; Sharp, Ronald J; Holcomb, George W; Shim, Walton K T; Megison, Stephen M; Moss, R Lawrence; Fecteau, Annie H; Colombani, Paul M; Cooper, Dan; Bagley, Traci; Quinn, Amy; Moskowitz, Alan B; Paulson, James F

    2013-12-01

    A multicenter study of pectus excavatum was described previously. This report presents our final results. Patients treated surgically at 11 centers were followed prospectively. Each underwent a preoperative evaluation with CT scan, pulmonary function tests, and body image survey. Data were collected about associated conditions, complications, and perioperative pain. One year after treatment, patients underwent repeat chest CT scan, pulmonary function tests, and body image survey. A subset of 50 underwent exercise pulmonary function testing. Of 327 patients, 284 underwent Nuss procedure and 43 underwent open procedure without mortality. Of 182 patients with complete follow-up (56%), 18% had late complications, similarly distributed, including substernal bar displacement in 7% and wound infection in 2%. Mean initial CT scan index of 4.4 improved to 3.0 post operation (severe >3.2, normal = 2.5). Computed tomography index improved at the deepest point (xiphoid) and also upper and middle sternum. Pulmonary function tests improved (forced vital capacity from 88% to 93%, forced expiratory volume in 1 second from 87% to 90%, and total lung capacity from 94% to 100% of predicted (p < 0.001 for each). VO2 max during peak exercise increased by 10.1% (p = 0.015) and O2 pulse by 19% (p = 0.007) in 20 subjects who completed both pre- and postoperative exercise tests. There is significant improvement in lung function at rest and in VO2 max and O2 pulse after surgical correction of pectus excavatum, with CT index >3.2. Operative correction significantly reduces CT index and markedly improves the shape of the entire chest, and can be performed safely in a variety of centers. Copyright © 2013 American College of Surgeons. Published by Elsevier Inc. All rights reserved.

  12. Overcorrection during treatment of pectus deformities with DCC orthoses: experience in 17 cases

    PubMed Central

    Haje, D. P.

    2006-01-01

    Treatment of pectus carinatum and pectus excavatum with dynamic chest compressor (DCC) orthoses have been reported by Haje and others. The goal of this study was to demonstrate that overcorrection during orthotic treatment of children and adolescents with pectus deformities can occur and requires medical attention. Of 3,028 children and adolescents with pectus deformities, observed between 1977 and October 2005, 1,824 were prescribed treatment with DCC orthoses and, after a few months of treatment, some overcorrection was noted in 30 patients. Of the patients who received orthoses, 738 had a minimum follow-up of 1 year and 17 of these, 2 with pectus excavatum and 15 with pectus carinatum, presented overcorrection and were studied. The dynamic remodeling method (DCC orthoses + exercises) was applied. The procedures, adopted according to each patient’s needs, were: decreasing the time of orthosis wear and/or the tightening of the screws, introducing a second orthosis, and improving the prescribed exercises and/or encouraging the patient to perform them more intensively. The therapy was successful in all patients, and the result was maintained in one case of pectus excavatum followed up until adulthood. It was concluded that overcorrection during DCC orthosis wear can occur and that careful medical follow-up is necessary if this complication is to be successfully reversed. PMID:16474937

  13. The use of sternal wedge osteotomy in pectus surgery: when is it necessary?

    PubMed

    Kara, Murat; Gundogdu, Ahmet Gokhan; Kadioglu, Salih Zeki; Cayirci, Ertug Can; Taskin, Necati

    2016-09-01

    The Ravitch procedure is a well-established surgical procedure for correction of chest wall deformities. Sternal wedge osteotomy is an important part of this procedure. We studied the incidence of wedge osteotomy with respect to the type of chest wall deformity in patients undergoing surgical correction with the use of a recently developed chest wall stabilization system. A total of 47 patients, 39 (83%) male and 8 (17%) female with a mean age of 14.9 ± 2.1 years, underwent the Ravitch procedure. Twenty-four (51.1%) had pectus carinatum, 19 (40.4%) had pectus excavatum, and 4 (8.5%) had pectus arcuatum. A conventional or oblique sternal wedge osteotomy was performed as indicated, followed by chest wall stabilization using the MedXpert system. Of the 47 patients, 27 (57.4%) had a sternal wedge osteotomy. All cases of pectus arcuatum and redo cases underwent sternal wedge osteotomy. Pectus excavatum cases tended to have a greater incidence of wedge osteotomy compared to pectus carinatum cases (68.4% vs. 41.7%, p = 0.052). Patients with more resected ribs had a greater rate of wedge osteotomy (63.4%) compared to those with fewer resected ribs (16.7%, p = 0.043). A sternal wedge osteotomy is more commonly performed in patients with pectus excavatum compared to those with pectus carinatum. All redo and pectus arcuatum cases need a wedge osteotomy for proper correction. Wedge osteotomy is very likely in more aggressive corrections with more rib resections. © The Author(s) 2016.

  14. Perioperative strategies and technical modifications to the Nuss repair for pectus excavatum in pediatric patients: a large volume, single institution experience.

    PubMed

    Sacco Casamassima, Maria Grazia; Goldstein, Seth D; Salazar, Jose H; McIltrot, Kimberly H; Abdullah, Fizan; Colombani, Paul M

    2014-04-01

    The safety and efficacy of minimally invasive pectus excavatum repair have been demonstrated over the last twenty years. However, technical details and perioperative management strategies continue to be debated. The aim of the present study is to review a large single-institution experience with the modified Nuss procedure. A retrospective review was performed of patients who underwent primary pectus excavatum repair at a single tertiary hospital via a modified Nuss procedure that included: no thoracoscopy, retrosternal dissection achieved via a left-to-right thoracic approach, four-point stabilization of the bar, and no routine epidural analgesia. Data collected included demographics, preoperative symptoms, operative characteristics, hospital charges and postoperative outcomes. A total of 336 pediatric patients were identified. No cardiac perforations occurred and the rate of pericarditis was 0.6%. Contemporary rates of bar displacement have fallen to 1.2%. Routine use of chlorhexidine scrub reduced superficial site infections to 0.7%. Two patients (0.6%) with severe recurrence required reoperation. Bars were removed after an average period of 31.7(SD 13.2) months, with satisfactory cosmetic and functional results in 94.9% of cases. We report here a single-institution large volume experience, including modifications to the Nuss procedure that make the technique simpler and safer, improve results, and minimize hospital charges. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. A novel technique to measure severity of pediatric pectus excavatum using white light scanning.

    PubMed

    Hebal, Ferdynand; Port, Elissa; Hunter, Catherine J; Malas, Bryan; Green, Jared; Reynolds, Marleta

    2018-04-18

    Computed tomography (CT) derived Haller Index (HI) remains the standard for quantifying severity in patient with pectus excavatum (PE). Optical scanning described in literature reports optimistic results and new indices that correlate with HI. This study assessed the feasibility of a handheld White Light Scanner (WLS) to obtain 3D measurements and indices of PE deformity. From April 2015-April 2017, WLS scanning was conducted by orthotists during clinical visits. Included were children with PE up to 18 years. Analysis assessed correlation of a WLS-derived severity index, Hebal-Malas Index (HMI), with physician measured PE Depth (PED), and CT-derived HI. Of 195 participants, 185(94%) patients with PE were scanned and 127(69%) had complete WLS data. For 88 patients undergoing monitoring, HMI correlated with PED (r = 0.42, p = 0.004). For 39 patients with pre-operative CT, HMI demonstrated strong correlation with HI (r = 0.87, p<0.0001). WLS demonstrated high feasibility of scanning PE. WLS-derived HMI best correlates with HI for patients with severe pectus deformity. Our current data is suggestive that WLS is best applied for severe deformities and yet to be established for milder deformities. Future yearly WLS will provide data on deformity progression and surgical therapy. IV. Diagnostic Study. Copyright © 2018 Elsevier Inc. All rights reserved.

  16. Pectus carinatum.

    PubMed

    Coelho, Marlos de Souza; Guimarães, Paulo de Souza Fonseca

    2007-01-01

    Among the deformities of the thoracic wall,pectus carinatum has not received the same attention as has pectus excavatum. Few pulmonologists, pediatricians, and thoracic surgeons are aware of the approaches to treating this condition. As a consequence, patients with pectus carinatum are not referred for treatment. This deformity, with an incidence of 1:1000 teenagers, is oligosymptomatic. However, for aesthetic and emotional reasons, it accounts for a large number of medical appointments. Such patients are introverted and do not engage in physical activities, since they are unwilling to expose their chest, which also discourages them from going to the beach or to swimming pools. The diagnosis is clinical and visual, and details are obtained through chest X-rays and computed tomography. The treatment is based on a well-known organogram that summarizes orthopedic and surgical procedures. Dynamic compression, combined with physical exercises, is indicated for teenagers with flexible thorax in inferior and lateral pectus carinatum, with limited indication for those with superior pectus carinatum. For individuals of any age with rigid thorax, surgery is indicated for aesthetic reasons. Among the techniques described, the modified sternum chondroplasty stands out due to the excellent aesthetic results achieved.

  17. Chondro-manubrial deformity and bifid rib, rare variations seen in pectus carinatum: a radiological finding.

    PubMed

    Allwyn Joshua, S; Shetty, Lathika; Pare, V S; Sebastian, Roopa

    2013-07-01

    Pectus carinatum or protrusion deformity of chest wall is less frequently occurring anterior chest wall deformity when compared to pectus excavatum. It may be classified as type 1 or chondro-gladiolar and type 2 or chondro-manubrial deformity. Other variations seen are symmetrical and asymmetrical pectus carinatum. Here we present two unique case reports, one with chondro-manubrial deformity (Currarino-Silverman syndrome) and other with asymmetrical pectus carinatum having bifid rib which are some of the rare variations seen in pectus carinatum found during Computerized tomographic examination. Currarino-Silverman syndrome is a type 2 pectus carinatum, a rare deformity with chondro-manubrial involvement and usually associated congenital heart diseases. Early fusion of sternal plates is one of the known theories in producing this deformity. On the other hand, asymmetrical pectus deformity are usually seen due to imbalance or abnormality in growth plates of costal cartilages leading to forked rib or bifid rib, which are accidently seen on radiological examination. To conclude, our reports would help in differential diagnosis from frequently occurring conditions affecting chest like chondro-gladiolar deformity, pectus excavatum, chest wall tumours, rib fractures and intra thoracic ribs.

  18. Complications after pectus excavatum repair using pectus bars in adolescents and adults: risk comparisons between age and technique groups.

    PubMed

    Choi, Soohwan; Park, Hyung Joo

    2017-10-01

    To compare the complications associated with age and technique groups in patients undergoing pectus excavatum (PE) repair. The data of 994 patients who underwent PE repair from March 2011 to December 2015 were retrospectively reviewed. Mean age was 9.59 years (range 31 months-55 years), and 756 patients were men (76.1%). The age groups were defined as follows: Group 1, <5 years; Group 2, 5-9 years; Group 3, 10-14 years; Group 4, 15-17 years; Group 5, 18-19 years; Group 6, 20-24 years; and Group 7, >24 years. The technique groups were defined as follows: Group 1, patients who underwent repair with claw fixators and hinge plates; Group 2, patients who underwent repair with our 'bridge' technique. Complications were compared between age groups and technique groups. No cases of mortality occurred. Complication rates in the age groups 1-7 were 5.4%, 3.6%, 12.1%, 18.2%, 17.3%, 13.9% and 16.7%, respectively. The complication rate tripled after the age of 10. In multivariable analysis, odds ratio of Groups 4, 5 and 7 and asymmetric types were 3.04, 2.81, 2.97 and 1.70 (P < 0.01, P = 0.02, 0.03 and 0.03, respectively). The bar dislocation rate in technique Group 1 was 0.8% (6 of 780). No bar dislocations occurred in technique Group 2. Older patients have more asymmetric pectus deformity and they are also risk factors for complications following PE repair. The bridge technique provides a bar dislocation rate of 0%, even in adult patients. This procedure seems to reduce or prevent major complications following PE repair. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  19. Minimal cosmetic revision required after minimally invasive pectus repair.

    PubMed

    Murphy, Brittany L; Naik, Nimesh D; Roskos, Penny L; Glasgow, Amy E; Moir, Christopher R; Habermann, Elizabeth B; Klinkner, Denise B

    2018-05-09

    Despite surgical correction procedures for pectus deformities, remaining cosmetic asymmetry may have significant psychological effects. We sought to evaluate factors associated with plastic surgery (PS) consultation and procedures for these deformities at an academic institution. We reviewed patients aged 0-21 diagnosed with a pectus excavatum or carinatum deformity at our institution between January 2001 and October 2016. Pectus diagnoses were identified by ICD-9/ICD-10 codes and surgical repair by CPT codes; patients receiving PS consultation were identified by clinical note service codes. Student's t tests, Fisher's exact tests, and Chi-squared tests were utilized. 2158 patients were diagnosed with a pectus deformity; 442 (20.4%) underwent surgical correction. 19/442 (4.3%) sought PS consultation, either for pectus excavatum [14/19 (73.7%)], carinatum [4/19 (21.0%)], and both [1/19 (5.3%)], (p = 0.02). Patients seeking PS consultation were more likely to be female (p < 0.01), have scoliosis (p = 0.02), or undergo an open repair (p < 0.01). The need for PS consultation did not correlate with Haller index, p = 0.78. PS consultation associated with pectus deformity repair was rare, occurring in < 5% of patients undergoing repair. Patients who consulted PS more commonly included females, patients with scoliosis, and those undergoing open repair. These patients would likely benefit most from multidisciplinary pre-operative discussions regarding repair of the global deformity.

  20. A new methodology for assessment of pectus excavatum correction after bar removal in Nuss procedure: Preliminary study.

    PubMed

    Gomes-Fonseca, João; Vilaça, João L; Henriques-Coelho, Tiago; Direito-Santos, Bruno; Pinho, António C M; Fonseca, Jaime C; Correia-Pinto, Jorge

    2017-07-01

    The objective is to present a new methodology to assess quantitatively the impact of bar removal on the anterior chest wall, among patients with pectus excavatum who have undergone the Nuss procedure, and present a preliminary study using this methodology. We propose to acquire, for each patient, the surface of the anterior chest wall using a three-dimensional laser scanner at subsequent time points (short term: before and after surgery; long term: follow-up visit, 6months, and 12months after surgery). After surfaces postprocessing, the changes are assessed by overlapping and measuring the distances between surfaces. In this preliminary study, three time points were acquired and two assessments were performed: before vs after bar removal (early) and before vs 2-8weeks after bar removal (interim). In 21 patients, the signed distances and volumes between surfaces were computed and the data analysis was performed. This methodology revealed useful for monitoring changes in the anterior chest wall. On average, the mean, maximum, and volume variations, in the early assessment, were -0.1±0.1cm, -0.6±0.2cm, and 47.8±22.2cm 3 , respectively; and, in the interim assessment, were -0.5±0.2cm, -1.3±0.4cm, and 122.1±47.3cm 3 , respectively (p<0.05). Data analysis revealed that the time the bar was in situ was inversely and significantly correlated with postretraction and was a relevant predictor of its decrease following surgery (p<0.05). Additionally, gender and age suggested influencing the outcome. This methodology is novel, objective and safe, helping on follow-up of pectus excavatum patients. Moreover, the preliminary study suggests that the time the bar was in situ may be the main determinant of the anterior chest wall retraction following bar removal. Further studies should continue to corroborate and reinforce the preliminary findings, by increasing the sample size and performing long-term assessments. III. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Systematic review of surgical treatment techniques for adult and pediatric patients with pectus excavatum

    PubMed Central

    2014-01-01

    This compares outcome measures of current pectus excavatum (PEx) treatments, namely the Nuss and Ravitch procedures, in pediatric and adult patients. Original investigations that stratified PEx patients based on current treatment and age (pediatric = 0–21; adult 17–99) were considered for inclusion. Outcome measures were: operation duration, analgesia duration, blood loss, length of stay (LOS), outcome ratings, complications, and percentage requiring reoperations. Adult implant patients (18.8%) had higher reoperation rates than adult Nuss or Ravitch patients (5.3% and 3.3% respectively). Adult Nuss patients had longer LOS (7.3 days), more strut/bar displacement (6.1%), and more epidural analgesia (3 days) than adult Ravitch patients (2.9 days, 0%, 0 days). Excluding pectus bar and strut displacements, pediatric and adult Nuss patients tended to have higher complication rates (pediatric - 38%; adult - 21%) compared to pediatric and adult Ravitch patients (12.5%; 8%). Pediatric Ravitch patients clearly had more strut displacements than adult Ravitch patients (0% and 6.4% respectively). These results suggest significantly better results in common PEx surgical repair techniques (i.e. Nuss and Ravitch) than uncommon techniques (i.e. Implants and Robicsek). The results suggest slightly better outcomes in pediatric Nuss procedure patients as compared with all other groups. We recommend that symptomatic pediatric patients with uncomplicated PEx receive the Nuss procedure. We suggest that adult patients receive the Nuss or Ravitch procedure, even though the long-term complication rates of the adult Nuss procedure require more investigation. PMID:24506826

  2. Correction of Pectus Excavatum by Custom-Made Silicone Implants: Contribution of Computer-Aided Design Reconstruction. A 20-Year Experience and 401 Cases.

    PubMed

    Chavoin, Jean-Pierre; Grolleau, Jean-Louis; Moreno, Benjamin; Brunello, Jérémie; André, Aymeric; Dahan, Marcel; Garrido, Ignacio; Chaput, Benoit

    2016-05-01

    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. 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. Beginning in 2007, three-dimensional reconstructions were made from computed tomographic scans by computer-aided design. The authors prospectively recorded all assessments and follow-up data since 1993. Preoperative and postoperative photographs of two random groups of 50 patients were analyzed, in a blinded manner, by two surgeons independently. Intraoperative and postoperative complications, clinical outcomes, patient satisfaction, and quality of life were evaluated. One infection and three hematomas were recorded. Periprosthetic seroma was evident in all cases. Patients rated the cosmetic outcomes of computer-aided design implants significantly higher than those of the earlier implants made using plaster molds (p = 0.030). Malformations were better corrected in the computer-aided design group (86 percent) than in the plaster group (72 percent) (p = 0.038). Patient satisfaction was higher in the former group (p = 0.011). Medical Outcomes Study 36-Item Short-Form Health Survey scores revealed significant improvements, both socially and emotionally. Correction of pectus excavatum using a computer-aided design silicone implant fulfils aesthetic and psychological demands. The technique is simple and reliable and yields high-quality results. In the medium term, the approach may render invasive techniques obsolete. These operations remain risky and of doubtful functional utility. Therapeutic, III.

  3. Minimally invasive repair of pectus excavatum (MIRPE)--the Basel experience.

    PubMed

    Haecker, F M; Bielek, J; von Schweinitz, D

    2003-01-01

    Minimally invasive repair of pectus excavatum (MIRPE) was first reported in 1998 by D. Nuss. This technique has gained wide acceptance during the last 4-5 years. In the meantime, some modifications of the technique have been introduced by different authors. Our retrospective study reports our own experience over the last 36 months and modifications introduced due to a number of complications. From 3/2000 to 3/2003, 22 patients underwent MIRPE. Patients median age was 15.5 years (10.7 to 20.3 years). Standardised preoperative evaluation included 3D computerised tomography (CT) scan, pulmonary function tests, cardiac evaluation with electrocardiogram and echocardiography, and photo documentation. Indications for operation included at least two of the following: Haller CT index > 3.2, restrictive lung disease, cardiac compression, progression of the deformity and severe psychological alterations. In 22 patients (2 girls, 20 boys) undergoing MIRPE procedure, a single bar was used in 21 patients and two bars in one boy. Lateral stabilisers were fixed with non resorbable sutures on both sides. Overall, postoperative complications occurred in six patients (27.3%). In two patients (9.1%) a redo-procedure was necessary due to bar displacement. An additional median skin incision was performed in two patients to elevate the sternum. Pneumothorax or hematothorax in two patients resulted in routine use of a chest tube on both sides. Long-term favourable results were noted in all patients. The MIRPE procedure is an effective method with elegant cosmetic results. Modifications of the original method help to decrease the complication rate and to accelerate acquirement of expertise.

  4. Intervention of the Nuss Procedure on the Mental Health of Pectus Excavatum Patients.

    PubMed

    Luo, Li; Xu, Bo; Wang, Xinling; Tan, Bo; Zhao, Jing

    2017-08-20

    Pectus excavatum (PE) is the most common congenital chest wall deformity, but little is known about the influence of the Nuss surgical procedure on mental health of patients with PE. In this study, we aimed to evaluate the influence of the PE Nuss surgical procedure on mental health in Chinese patients and identify the predictors of psychological status for PE. Patients with PE (n = 266) underwent a standard surgical procedure by the same surgeon and did the Symptom Checklist 90 (SCL-90) and the Self-rating Depression Scale (SDS) questionnaires before and 1 year after surgery. Additionally, platelet reactivity of postoperative PE patients was assessed. We found that PE patients after surgery performed better in the questionnaires and the frequency of mental health problems in the patients was lower than before. Most significantly, four mental disorders were alleviated after surgery, namely somatization, interpersonal sensitivity, depression, and anxiety. What is more, age, suffering year, and platelet aggregation responses to serotonin and epinephrine of PE patients partially were involved with the postoperative alleviation of mental disorders. In conclusion, the mental health level of PE patients could be effectively improved via the Nuss surgical procedure, and the earlier surgery might turn out better.

  5. Pectus bar removal: surgical technique and strategy to avoid complications.

    PubMed

    Park, Hyung Joo; Kim, Kyung Soo

    2016-01-01

    Pectus bar removal is the final stage of the procedure for minimally invasive repair of pectus excavatum. Based on our experience with one of the largest scale data, we would like to address the important issues in pectus bar removal, such as appropriate duration of bar maintenance, techniques for bar removal, and strategies to avoid complications. Between September 1999 and August 2015, we operated on 2,553 patients with pectus excavatum and carinatum using pectus bars for a minimally invasive approach. Among them, 1,821 patients (71.3%) underwent pectus bar removal as a final stage of pectus deformity repair, and their data were analyzed retrospectively to identify the outcomes and adverse effects of the pectus bar removal procedure. The mean age of the patients was 9.13 years (range, 16 months to 44 years) and the male to female ratio was 3.55. The study is approved by the Institutional Review Board (IRB), the ethical committee of Seoul St. Mary's Hospital. The IRB has exempted the informed consent from every patient in this study due to this is a retrospective chart review without revealing any patients' personal data. Our technique involved straightening of the bar in a supine position. The overall mean duration of pectus bar maintenance was 2.57 years (range, 4 months to 14 years). The mean duration was 2.02 years (range, 4 months to 7 years) for children under 12 years, 2.99 years (range, 7 months to 9 years) for teenagers aged 12-20 years, and 3.53 years (range, 3 months to 14 years) for adults over 20 years. Forty-eight patients (2.6%) underwent bar removal more than 5 years after bar insertion and 58 patients (3.2%) underwent bar removal earlier than initially planned. The most common adverse reaction after bar removal was wound seroma including infection (43 patients, 2.36%). Recurrence after bar removal occurred in nine patients (0.49%), and seven of these required redo repair (0.38%). Pectus bar removal is a safe and straightforward procedure with a

  6. Pectus bar removal: surgical technique and strategy to avoid complications

    PubMed Central

    Kim, Kyung Soo

    2016-01-01

    Background Pectus bar removal is the final stage of the procedure for minimally invasive repair of pectus excavatum. Based on our experience with one of the largest scale data, we would like to address the important issues in pectus bar removal, such as appropriate duration of bar maintenance, techniques for bar removal, and strategies to avoid complications. Methods Between September 1999 and August 2015, we operated on 2,553 patients with pectus excavatum and carinatum using pectus bars for a minimally invasive approach. Among them, 1,821 patients (71.3%) underwent pectus bar removal as a final stage of pectus deformity repair, and their data were analyzed retrospectively to identify the outcomes and adverse effects of the pectus bar removal procedure. The mean age of the patients was 9.13 years (range, 16 months to 44 years) and the male to female ratio was 3.55. The study is approved by the Institutional Review Board (IRB), the ethical committee of Seoul St. Mary’s Hospital. The IRB has exempted the informed consent from every patient in this study due to this is a retrospective chart review without revealing any patients’ personal data. Results Our technique involved straightening of the bar in a supine position. The overall mean duration of pectus bar maintenance was 2.57 years (range, 4 months to 14 years). The mean duration was 2.02 years (range, 4 months to 7 years) for children under 12 years, 2.99 years (range, 7 months to 9 years) for teenagers aged 12–20 years, and 3.53 years (range, 3 months to 14 years) for adults over 20 years. Forty-eight patients (2.6%) underwent bar removal more than 5 years after bar insertion and 58 patients (3.2%) underwent bar removal earlier than initially planned. The most common adverse reaction after bar removal was wound seroma including infection (43 patients, 2.36%). Recurrence after bar removal occurred in nine patients (0.49%), and seven of these required redo repair (0.38%). Conclusions Pectus bar removal is a

  7. Pectus excavatum postsurgical outcome based on preoperative soft body dynamics simulation

    NASA Astrophysics Data System (ADS)

    Moreira, Antonio H. J.; Rodrigues, Pedro L.; Fonseca, Jaime; Pinho, A. C. M.; Rodrigues, Nuno F.; Correia-Pinto, Jorge; Vilaça, João L.

    2012-02-01

    Pectus excavatum is the most common congenital deformity of the anterior chest wall, in which an abnormal formation of the rib cage gives the chest a caved-in or sunken appearance. Today, the surgical correction of this deformity is carried out in children and adults through Nuss technic, which consists in the placement of a prosthetic bar under the sternum and over the ribs. Although this technique has been shown to be safe and reliable, not all patients have achieved adequate cosmetic outcome. This often leads to psychological problems and social stress, before and after the surgical correction. This paper targets this particular problem by presenting a method to predict the patient surgical outcome based on pre-surgical imagiologic information and chest skin dynamic modulation. The proposed approach uses the patient pre-surgical thoracic CT scan and anatomical-surgical references to perform a 3D segmentation of the left ribs, right ribs, sternum and skin. The technique encompasses three steps: a) approximation of the cartilages, between the ribs and the sternum, trough b-spline interpolation; b) a volumetric mass spring model that connects two layers - inner skin layer based on the outer pleura contour and the outer surface skin; and c) displacement of the sternum according to the prosthetic bar position. A dynamic model of the skin around the chest wall region was generated, capable of simulating the effect of the movement of the prosthetic bar along the sternum. The results were compared and validated with patient postsurgical skin surface acquired with Polhemus FastSCAN system.

  8. Pectus deformities and their impact on pulmonary physiology.

    PubMed

    Koumbourlis, Anastassios C

    2015-01-01

    Pectus excavatum (PE) and pectus carinatum (PC) are the most common anomalies of the thoracic cage and they have been recognized since ancient times [1-3]. The two conditions differ in their appearance, and their effect on lung function. There is no direct correlation between the appearance of the deformities and the clinical symptoms. Whether, and when these deformities should be corrected as well as with which method (surgical or conservative) remain controversial. The following article reviews the current concepts regarding the pathophysiology of both conditions as well as the advances in their evaluation and management. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Emerging Fixation Technique to Prevent Pectus Bar Displacement: Needlescope-Assisted 3-Point Fixation.

    PubMed

    Yoo, Gyeol; Rha, Eun Young; Jeong, Jin Yong; Lee, Jongho; Sim, Sung Bo; Jo, Keon Hyon

    2016-01-01

    Bar flipping displacement is one of the most common complications after the Nuss procedure for pectus excavatum. We evaluated the results of a modified Nuss procedure with needlescope-assisted bar fixation. The records of 41 patients with pectus excavatum who underwent single pectus bar insertion with the Nuss procedure between July 2011 and August 2014 were retrospectively reviewed. The patients were divided into two groups: those who did not undergo 3-point fixation (group A) and those who did undergo 3-point fixation (group B). There were 36 male patients and 5 female patients with a mean age of 10.7 ± 8.3 years (range: 3-36 years). The postoperative Haller index (HI) (2.61 ± 0.42) was significantly lower than the preoperative HI (3.91 ± 1.07; p < 0.01). The angle of the initial bar position was 5.59 ± 7.37 degrees in group A and 8.52 ± 9.61 degrees in group B, with no significant difference between the groups (p > 0.05). The rate of reoperation to correct bar displacement was lower in group B (3.3%) than in group A (9.1%). Needlescope-assisted 3-point fixation of the bar was performed without an additional skin incision and showed a low rate of reoperation to correct displacement of the pectus bar. Georg Thieme Verlag KG Stuttgart · New York.

  10. [Contribution of computer-aided design for the conception of custom-made implants in Pectus Excavatum surgical treatment. Experience of the Nantes plastic surgery unit].

    PubMed

    Tilliet Le Dentu, H; Lancien, U; Sellal, O; Duteille, F; Perrot, P

    2018-02-01

    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. We have collected all the cases of custom-made silicone implants to treat funnel chests in our plastic surgery department. The quality of the results was evaluated by the patient, and in a blind manner by the surgical team using photographs and standardized surveys. The pre-operative delays, the operating time and length of hospital stays, the number of surgical recoveries, and the post-operative surgical outcomes were recorded. Between 1990 and 2016, we designed 29 silicone thoracic implants in our department. Before 2012, implants were made from plaster chest molds (n=13). After this date, implants were designed by CAD (n=16). Patients rated their results as "good" or "excellent" in 77% and 86% of cases respectively in the plaster and CAD groups. The surgical team's ratings for CAD implant reconstructions were better than in the plaster group: 8.17 versus 6.96 (P=0.001). CAD implants were significantly less detectable than the plaster group implants. The operating time was reduced in the CAO group: 60.2 compared to 74.7minutes in the plaster group (P=0.04), as was the length of hospitalization: 3.5 versus 5.3 days (P=0.01). There were no significant differences between the two groups in terms of post-operative complications. The management of pectus excavatum by a custom-made silicone implant is a minimally invasive method that provides good cosmetic results. The design of these implants is facilitated and qualitatively improved by CAD. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  11. Minimally Invasive Repair of Pectus Excavatum Without Bar Stabilizers Using Endo Close.

    PubMed

    Pio, Luca; Carlucci, Marcello; Leonelli, Lorenzo; Erminio, Giovanni; Mattioli, Girolamo; Torre, Michele

    2016-02-01

    Since the introduction of the Nuss technique for pectus excavatum (PE) repair, stabilization of the bar has been a matter of debate and a crucial point for the outcome, as bar dislocation remains one of the most frequent complications. Several techniques have been described, most of them including the use of a metal stabilizer, which, however, can increase morbidity and be difficult to remove. Our study compares bar stabilization techniques in two groups of patients, respectively, with and without the metal stabilizer. A retrospective study on patients affected by PE and treated by the Nuss technique from January 2012 to June 2013 at our institution was performed in order to evaluate the efficacy of metal stabilizers. Group 1 included patients who did not have the metal stabilizer inserted; stabilization was achieved with multiple (at least four) bilateral pericostal Endo Close™ (Auto Suture, US Surgical; Tyco Healthcare Group, Norwalk, CT) sutures. Group 2 included patients who had a metal stabilizer placed because pericostal sutures could not be used bilaterally. We compared the two groups in terms of bar dislocation rate, surgical operative time, and other complications. Statistical analysis was performed with the Mann-Whitney U test and Fisher's exact test. Fifty-seven patients were included in the study: 37 in Group 1 and 20 in Group 2. Two patients from Group 2 had a bar dislocation. Statistical analysis showed no difference between the two groups in dislocation rate or other complications. In our experience, the placement of a metal stabilizer did not reduce the rate of bar dislocation. Bar stabilization by the pericostal Endo Close suture technique appears to have no increase in morbidity or migration compared with the metal lateral stabilizer technique.

  12. ORTHOPEDIC APPROACH TO PECTUS DEFORMITIES: 32 YEARS OF STUDIES

    PubMed Central

    Haje, Sydney Abrão; de Podestá Haje, Davi

    2015-01-01

    The authors summarize a 32-year experience in the study and in the non-operative approach of pectus carinatum and pectus excavatum. Data of 4,012 patients with pectus deformities were collected from 1977 to January 2009, allowing evaluation on the etiology, pathogenesis and treatment of these deformities. Growth disturbances of anterior chest wall bones and cartilages were detected in imaging studies. Heredity, and biomechanical factors, like respiratory disturbances and scoliosis were noticed in more than 40% of the patients. The method of dynamic remodeling of the thorax – compressive orthoses simultaneously to exercises practice – was indicated in 2453 patients. Concomitant treatment with bending brace was provided in patients with 20° to 52° scoliosis. Of pectus patients with treatment indication, 1717 returned for re-evaluation: 1632 children and adolescents and 85 adults. Good results were seen in 60.6% of children and adolescents and in 27% of adults treated. No scoliosis patient presented curve worsening, and a case of 52° presented an improvement of 20° in the scoliosis with the treatment. Disturbances in the growth of the sternum and costal arches, as well as biomechanical factors related to the pathogenesis of pectus deformities, demonstrate how these deformities are correlated to orthopaedics. Appropriate evaluation of the anterior chest wall and concomitant treatment with bending brace are recommended in the presence of scoliosis. The dynamic remodeling method of the thorax requires a protocol of medical actions for a successful treatment. PMID:27004171

  13. The role of chest radiography following pectus bar removal.

    PubMed

    Farach, Sandra M; Danielson, Paul D; Chandler, Nicole M

    2016-07-01

    Surgical correction of pectus excavatum (PE) via a minimally invasive approach involves placement of a steel bar, which is subsequently removed. The purpose of our study was to evaluate the incidence of pneumothorax and the role for chest radiography (CXR) in patients undergoing pectus bar removal. A retrospective review of 84 patients who underwent pectus bar removal from 2006 to 2014 was performed. Results of postoperative CXR, repeat imaging, need for chest thoracostomy tube placement, and complications were analyzed. Mean Haller index prior to correction was 4.3 ± 0.9. The mean time between PE repair and bar removal was 2.3 ± 0.6 years. Sixty-one patients (72.6 %) had a postoperative CXR. Thirty-one (50.8 %) had no acute findings, 20 (32.8 %) had findings of atelectasis or subcutaneous emphysema, and 10 (16.4 %) had a pneumothorax. One patient (1.6 %) had a second postoperative CXR for a small pneumothorax and rib fractures. There were two complications (2.4 %). No chest tubes were placed for pneumothorax, and 95 % of patients were discharged the day of surgery. Postoperative CXR following pectus bar removal is unnecessary given the low incidence of postoperative pneumothorax requiring intervention. Patients can be safely discharged the day of surgery without the need for routine postoperative chest imaging.

  14. Minimal access treatment of pectus carinatum: a preliminary report.

    PubMed

    Hock, András

    2009-04-01

    Unlike the minimal access repair of pectus excavatum (PE), a minimal access repair of pectus carinatum (PC) has not been established. This initial experience reports the correction of PC using a minimal access technique in five patients. The procedure was performed by insertion of a pectus bar through either bilateral or only left midaxillary incision. The pectus bar was placed so that the elevated sternum could be depressed. Thoracoscopy was not employed during the procedures and no stabiliser plates were used. On completion of the procedure, a chest tube was inserted into the thoracic cavity to evacuate the air from the thoracic cavity followed by wound closure. The operation time ranged from 75 to 110 min. The chest tube was removed on the second postoperative day and the patients were discharged between the fifth and seventh postoperative day. There was one dislocation in which the bar was finally removed, and in three patients a prolapse of the end of the strut through intercostal space necessitated refixation using wires. Despite a small series, this method offers a minimal access repair of PC, which is comparable to the technique used for PE. The invasiveness of our method is obviously far less, than of those different open surgical techniques performed worldwide presently. Our postoperative results warrant the application of this technique in patients with PC.

  15. Minimally invasive repair of pectus excavatum: Analysis of the NSQIP database and the use of thoracoscopy.

    PubMed

    Tetteh, Oswald; Rhee, Daniel S; Boss, Emily; Alaish, Samuel M; Garcia, Alejandro V

    2018-03-07

    The minimally invasive repair of pectus excavatum (MIRPE) has been widely accepted and has become a viable alternative to the open Ravitch technique. MIRPE has evolved over time with some advocating that a safe repair can be accomplished without direct visualization utilizing thoracoscopy. The MIRPE with and without a thoracoscopic approach has not been previously analyzed from a nationwide database to determine differences in safety and short-term outcomes. The American College of Surgeons National Surgical Quality Improvement Program-Pediatric (NSQIP-P) 2012-2015 database was used in identifying patients that had MIRPE using Current Procedural Terminology (CPT) codes and ICD-9CM/ICD-10CM postoperative diagnosis codes. Outcomes of interest were readmissions, reoperations, complications, cardiothoracic injury, operative time, and duration of hospital stay after surgery for MIRPE with and without thoracoscopy. Descriptive statistics, simple and multivariable logistic regressions, Fisher's exact, and Wilcoxon rank sum test were used to determine any differences in 30-day postoperative outcomes. There were 1569 MIRPE cases included. 15.9% (N=249) of MIRPE were done without thoracoscopy. There were no significant differences with the use of thoracoscopy compared to without thoracoscopy in the rate of readmissions (2.5 vs 4.8%; p=0.06), reoperations (1.4 vs 2.0%; p=0.57), postoperative complications (2.6% vs 3.2%; p=0.52), and cardiothoracic injuries (0.2% vs 0.0%; p=1.00). Unadjusted odds ratios (ORs) for readmission and reoperation comparing MIRPE with thoracoscopy to MIRPE without thoracoscopy were 0.51 (p<0.05) and 0.71 (p=0.50), respectively. Adjusted ORs were 0.49 (p=0.04) and 0.71 (p=0.50), respectively. There were no reported deaths, but two cardiothoracic injuries were recorded in the group with thoracoscopy. MIRPE with thoracoscopy was associated with longer operative time (mean 13.0min; p=0.00) and longer hospital stay (mean 0.37days; p<0.01) compared to

  16. Initial results with minimally invasive repair of pectus carinatum.

    PubMed

    Kálmán, Attila

    2009-08-01

    Pectus carinatum is traditionally repaired by using some modification of the open Ravitch procedure, with its possible long-term sequelae, such as poor postoperative compliance of the chest. In this study we assessed our results with a new minimally invasive repair of pectus carinatum that requires neither cartilage incision nor sternotomy. From June 2005, we have corrected pectus carinatum using a method analogous to the Nuss procedure for pectus excavatum repair. Thus far, we performed this intervention on 14 patients (mean age, 15 +/- 1.5 years). A steel bar has been inserted at the level of the maximum point of the sternal protrusion through small lateral incisions. The sternum is pushed back without osteotomy or chondrotomy. The bar is removed after 2 years. Patients' characteristics, operation time, hospital stay, and complications have been recorded. In 1 patient with asymmetric deformity, 2 bars were placed. Operative time was 42 +/- 20 minutes (mean +/- standard deviation), and hospital stay was 3 days (median quartiles, 3-4 days) postoperatively. We experienced lateral shift of the bar in 1 patient, which was treated with remodeling and repositioning of the bar. No other complication occurred during the 18-month follow-up period (mean range, 2-38 months). Thirteen of the 14 patients reported excellent or very good results. Patients returned to full activity within 2 months. Five bars have been removed. Minimally invasive repair of pectus carinatum leaves the integrity of the chest wall untouched. It is safe with a short operative time and hospital stay and provides good results, even in asymmetric cases.

  17. Symptoms in Pectus Deformities: A Scoring System for Subjective Physical Complaints.

    PubMed

    Ewert, Franziska; Syed, Julia; Kern, Sonja; Besendörfer, Manuel; Carbon, Roman T; Schulz-Drost, Stefan

    2017-01-01

    Background  The literature is silent on the relationship between symptoms and the Haller index. Nor is there a classification of the severity of the physical complaints. Materials and Methods  Retrospectively, data from 128 patients (102 funnel, 25 pigeon chest patients, and 1 mixed type) were evaluated. To objectify the symptoms, we developed a score to describe the level of physical ailments. This score includes 10 different symptoms as well as the situation or frequency in which they occur and an impact factor. This depends on how much they affect everyday life. Results  Pectus excavatum patients express physical complaints more frequently than pectus carinatum patients who actually suffer more from psychological stress. We could not find a correlation between the Haller index and symptoms or levels of ailment. Conclusion  Pectus deformities are likely to cause physical and psychological complaints. Since the subjective symptoms did not show any correlation to the chest severity index, they are supposed to be independent from the deformity's extent. Georg Thieme Verlag KG Stuttgart · New York.

  18. Experience with the Nuss technique for the treatment of Pectus Excavatum in Spanish Thoracic Surgery Departments.

    PubMed

    Fibla, Juan J; Molins, Laureano; Moradiellos, Javier; Rodríguez, Pedro; Heras, Félix; Canalis, Emili; Bolufer, Sergio; Martínez, Pablo; Aragón, Javier; Arroyo, Andrés; Pérez, Javier; León, Pablo; Canela, Mercedes

    2016-01-01

    Although the Nuss technique revolutionized the surgical treatment of pectus excavatum, its use has not become widespread in our country. The aim of this study was to analyze the current use of this technique in a sample of Thoracic Surgery Departments in Spain. Observational rectrospective multicentric study analyzing the main epidemiological aspects and clinical results of ten years experience using the Nuss technique. Between 2001 and 2010 a total of 149 patients were operated on (mean age 21.2 years), 74% male. Initial aesthetic results were excellent or good in 93.2%, mild in 4.1% and bad in 2.7%. After initial surgery there were complications in 45 patients (30.6%). The most frequent were wound seroma, bar displacement, stabilizer break, pneumothorax, haemothorax, wound infection, pneumonia, pericarditis and cardiac tamponade that required urgent bar removal. Postoperative pain appeared in all patients. In 3 cases (2%) it was so intense that it required bar removal. After a mean follow-up of 39.2 months, bar removal had been performed in 72 patients (49%), being difficult in 5 cases (7%). After a 1.6 year follow-up period good results persisted in 145 patients (98.7%). Nuss technique in adults has had good results in Spanish Thoracic Surgery Departments, however its use has not been generalized. The risk of complications must be taken into account and its indication must be properly evaluated. The possibility of previous conservative treatment is being analyzed in several departments at present. Copyright © 2015 AEC. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Preliminary study of efficacy of cup suction in the correction of typical pectus excavatum.

    PubMed

    Lopez, Manuel; Patoir, Arnaud; Costes, Frederic; Varlet, François; Barthelemy, Jean-Claude; Tiffet, Olivier

    2016-01-01

    This preliminary qualitative study evaluates the efficacy of cup suction in the correction of pectus excavatum (PE), and examines the place of this system as a strategic treatment and as an alternative to surgery. Between October 2011 and June 2014, a total of 84 patients (children and adult) presenting with PE were treated by cup suction, in our chest wall deformities unit. On first consultation, the patients with typical PE and with at least partial correction during the first application of cup suction and a maximal suction pressure for correction of less than 300 mbar (millibars) were included in this study. 11 patients were excluded from the present study as they presented with a complex carinatum/excavatum. The remaining 73 patients were divided into two groups: Group I, adult patients ≥ 18 year old, 17 patients. The mean age was 22.8 years old. Group II, pediatric patients <18 years old, 56 patients. The mean age was 11.5 years old. Medical photographic documentation was collected systematically. In addition, the depth of PE was measured. The management protocol involved: adjustment of cup suction, strengthening exercises, and clinical follow-up every two to three months. The evaluation criteria during, and on the completion of the trial were: depth of the PE, morbidity and treatment compliance. Partial and final results were evaluated by the patients, their parents, and doctor, using a qualitative scoring scale. A total of 73 patients presenting typical PE (symmetric in 52 cases and asymmetric in 21 cases) were treated by cup suction. The mean depth of PE was 23 mm (9-44). Of the 73 patients, one adult abandoned treatment and three children abandoned follow-up. The mean time of use of the device was 4h daily. At six months of treatment, the mean depth of PE was 9 mm (0-30) across all patients. 23 patients completed the treatment and exhibited flattening of the sternum. These patients were considered to have an excellent aesthetic result. The mean

  20. [Conservative treatment of the pectus carinatum].

    PubMed

    Moreno, C; Delgado, M D; Martí, E; Fuentes, S; Morante, R; Cano, I; Gómez, A

    2011-04-01

    Pectus carinatum (PC) is a deformity that involves the protrusion of the anterior chest wall. It is 10 times less frequent than pectus excavatum. It has a progressive growth and is more common with men. There are two different types, the lower or condrocorporal which is the most common one, and the upper or condromanubrial. Most of the time there are no cardio-respiratory symptoms. We present our experience in the orthopedic treatment of the pectus carinatum. Retrospective review of patients treated in our hospital from 2002 until 2009. Patients were treated with observation, aerobic exercises, postural change and/or compression braces. Literature review was performed of the treatment for this pathology. 18 patients have been diagnosed with PC, 16 were men and 2 women. All were treated in a nonoperative way. Only 11 of them used a compression brace. We missed two follow-ups and another has just yet begun to achieve proper results. All the rest have had excellent results with nonoperative treatment. None of them have had a surgical treatment. The PC is a disease that most often is a cosmetic problem, with no impact on a cardio-respiratory level. Classically it has been a surgical entity. In our experience we have found that the orthopedic method is an effective alternative, safe and with a significant reduction in morbidity. But we need the collaboration of the patient to accept and maintain continuity in the use of the prostheses.

  1. The bridge technique for pectus bar fixation: a method to make the bar un-rotatable.

    PubMed

    Park, Hyung Joo; Kim, Kyung Soo; Moon, Young Kyu; Lee, Sungsoo

    2015-08-01

    Pectus bar rotation is a major challenge in pectus repair. However, to date, no satisfactory technique to completely eliminate bar displacement has been introduced. Here, we propose a bar fixation technique using a bridge that makes the bar unmovable. The purpose of this study was to determine the efficacy of this bridge technique. A total of 80 patients underwent pectus bar repair of pectus excavatum with the bridge technique from July 2013 to July 2014. The technique involved connecting 2 parallel bars using plate-screws at the ends of the bars. To determine bar position change, the angles between the sternum and pectus bars were measured on postoperative day 5 (POD5) and 4 months (POM4) and compared. The mean patient age was 17.5 years (range, 6-38 years). The mean difference between POD5 and POM4 were 0.23° (P=.602) and 0.35° (P=.338) for the upper and lower bars, respectively. Bar position was virtually unchanged during the follow-up, and there was no bar dislocation or reoperation. A "bridge technique" designed to connect 2 parallel bars using plates and screws was demonstrated as a method to avoid pectus bar displacement. This approach was easy to implement without using sutures or invasive devices. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Customized silicone implant for the correction of acquired and congenital chest wall deformities: A valuable option with pectus excavatum.

    PubMed

    Soccorso, Giampiero; Parikh, Dakshesh H; Worrollo, Steve

    2015-07-01

    Surgical remodeling and correction of congenital and acquired chest wall deformities (CWD) is undertaken many times for cosmesis. Although reportedly minimally invasive, commonly used Nuss procedure for correction of pectus excavatum (PE) is not without complications. Nuss procedure is also not suitable for complex deformities and Poland syndrome cases. Insertion of custom-made silicone implants for the reconstruction of defects has been adopted from adult plastic reconstructive surgery as primary repair of CWD or rescue procedure for recurrence of PE after recurrence or residual deformity. We present our experience with CWD reconstruction in children with customized silicone prosthesis made from a surgically implantable liquid silicone rubber (NuSil MED-4805, Ca). Since 2006 we treated 26 patients with CWD: six were children (age <17years, median 14.6) with PE. Implants were custom made for each patient's chest. The implants were inserted under general anesthesia. Postoperatively all patients were fully satisfied with the cosmetic result and subjective patient satisfaction remained excellent at follow-up in all the children. Only one child developed postoperative complications (seroma). Customized silicone implant for PE in the pediatric age is an alternative therapeutic method, as primary or rescue treatment, with equally good cosmetic outcome, fewer significant complications, less postoperative pain and a faster recovery. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Minimally Invasive Repair of Pectus Carinatum.

    PubMed

    Yuksel, Mustafa; Lacin, Tunc; Ermerak, Nezih Onur; Sirzai, Esra Yamansavci; Sayan, Bihter

    2018-03-01

    The second most common deformity of the anterior chest wall, pectus carinatum, is a diverse deformity that has been largely managed using open techniques. This study reviews clinical experience with a newly designed bar for minimally invasive repair of pectus carinatum. We reviewed the records of all patients recorded in our Chest Wall Deformities Clinical Database. Between January 2006 and November 2016, minimally invasive repair of pectus carinatum was performed in 172 patients. All met the criteria of a "compression test" of 10 to 25 kg/cm 2 . The mean age was 17.3 years, and 22.7% had a positive family history of a congenital chest wall deformity. Symmetric and asymmetric deformities were treated. During our study period, we designed 4 different bar configurations and their related stabilizers. All patients are assessed every 3 to 6 months. After 2 to 3 years of follow-up, the bar and the stabilizers are removed. Of 172 patients, 97.1% tolerated the procedure very well. The operation was a mean length 76.6 minutes. Average blood loss was 40 mL. Mean hospital length of stay was 3.7 days. Complications included pneumothorax, wire breakdown/rib cut, wound infection, severe pain, skin hyperpigmentation, nickel allergy, and overcorrection leading to excavatum. Patients returned to routine activity in 10 to 14 days. With a mean follow-up of 29.8 months in bar removal patients, 130 of 172 (93.8%) reported excellent results. Minimally invasive repair of pectus carinatum with the technically modified fourth-generation bar and its securing system has advantages of low morbidity, short hospital stay, and excellent cosmetic results, even in asymmetric cases. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  4. [Pectus excavatumn and carinatum in children and adolescents : what to say, what to do ?

    PubMed

    Lascombes, Pierre; Ruchonnet-Métrailler, Isabelle; Beghetti, Maurice; Bottani, Armand; Wilde, James

    2017-02-15

    In children presenting with a pectus excavatum (PE) or pectus carinatum (PC) an underlying syndrome including Marfan's syndrome needs to be excluded. In adolescents, severe chest wall deformities may cause cardiac or respiratory problems but most commonly they have a psychological impact. The conservative treatment is a Vacuum Bell for PE, and a Dynamic Compression System for PC ; they play an increasing role in young patients. These devices need to be worn multiple hours per day for several months for an optimal result. Surgery is usually reserved for adolescents. The Nuss procedure for PE, also known as minimal invasive repair of PE offers excellent results. Sterno-chondro-plasty with stabilisation of the sternum with struts clipped to the ribs offers the same good results for PC. In our opinion, a multidisciplinary approach is preferable.

  5. Epidural analgesia versus intravenous patient-controlled analgesia following minimally invasive pectus excavatum repair: a systematic review and meta-analysis

    PubMed Central

    Stroud, Andrea M.; Tulanont, Darena D.; Coates, Thomasena E.; Goodney, Philip P.; Croitoru, Daniel P.

    2017-01-01

    Background/Purpose The minimally invasive pectus excavatum repair (MIPER) is a painful procedure. The ideal approach to postoperative analgesia is debated. We performed a systematic review and meta-analysis to assess the efficacy and safety of epidural analgesia compared to intravenous Patient Controlled Analgesia (PCA) following MIPER. Methods We searched MEDLINE (1946–2012) and the Cochrane Library (inception–2012) for randomized controlled trials (RCT) and cohort studies comparing epidural analgesia to PCA for postoperative pain management in children following MIPER. We calculated weighted mean differences (WMD) for numeric pain scores and summarized secondary outcomes qualitatively. Results Of 699 studies, 3 RCTs and 3 retrospective cohorts met inclusion criteria. Compared to PCA, mean pain scores were modestly lower with epidural immediately (WMD −1.04, 95% CI −2.11 to 0.03, p = 0.06), 12 hours (WMD −1.12; 95% CI −1.61 to −0.62, p < 0.001), 24 hours (WMD −0.51, 95%CI −1.05 to 0.02, p = 0.06), and 48 hours (WMD −0.85, 95% CI −1.62 to −0.07, p = 0.03) after surgery. We found no statistically significant differences between secondary outcomes. Conclusions Epidural analgesia may provide superior pain control but was comparable with PCA for secondary outcomes. Better designed studies are needed. Currently the analgesic technique should be based on patient preference and institutional resources. PMID:24851774

  6. Minimally invasive repair of pectus carinatum and how to deal with complications.

    PubMed

    Abramson, Horacio; Aragone, Xavier; Blanco, Javier Borbore; Ciano, Alejandro; Abramson, Leonardo

    2016-01-01

    While less common than pectus excavatum, pectus carinatum is also a chest wall deformity affecting males in higher proportion than women. Patient requests for a solution of this disease occur especially during the growth spurt of puberty when this malformation becomes more obvious and difficult to conceal. Those people suffering from pectus carinatum are very likely subject to behavioral changes and negative personality impacts. By compressing the protruding anterior region of the chest wall we achieve correction of the chest contour and simultaneous lateral expansion of the depressed costochondral arches. This original technique and the procedure to apply it fit within the category of minimally invasive surgery. The compression system acts in a way similar to that of orthodontic braces. Two rectangular fixation plates are fixed to the compression strut with screws. The plates have threaded holes along a groove in the central portion, and two holes at both ends used to attach them to the ribs by means of steel wire suture. The compression strut has to be modified into a convex shape to adapt it to the particular characteristics of the patient's malformation. This molding is done using benders designed as part of the procedure.

  7. Pigeon chest: comparative analysis of surgical techniques in minimal access repair of pectus carinatum (MARPC).

    PubMed

    Muntean, Ancuta; Stoica, Ionica; Saxena, Amulya K

    2018-02-01

    After minimally invasive repair for pectus excavatum (MIRPE), similar procedures for pectus carinatum were developed. This study aimed to analyse the various published techniques of minimal access repair for pectus carinatum (MARPC) and compare the outcomes. Literature was reviewed on PubMed with the terms "pectus carinatum", "minimal access repair", "thoracoscopy" and "children". Twelve MARPC techniques that included 13 articles and 140 patients with mean age 15.46 years met the inclusion criteria. Success rate of corrections was n = 125, about 89% in cumulative reports, with seven articles reporting 100%. The complication rate was 39.28%. Since the pectus bar is placed over the sternum and has a large contact area, skin irritation was the most frequent morbidity (n = 20, 14.28%). However, within the complication group (n = 55), wire breakage (n = 21, 38.18%) and bar displacement (n = 10, 18.18%) were the most frequent complications. Twenty-two (15.71%) patients required a second procedure. Recurrences have been reported in four of twelve techniques. There were no lethal outcomes. MARPC techniques are not standardized, as MIRPE are, so comparative analysis is difficult as the only common denominator is minimal access. Surgical morbidity is high in MARPC and affects > 2/3rd patients with about 15% requiring surgery for complication management.

  8. Z-type pattern pectus excavatum/carinatum in a case of Noonan syndrome.

    PubMed

    Sacco-Casamassima, Maria Grazia; Goldstein, Seth D; Birdsong, Margaret; McIltrot, Kimberly H; Abdullah, Fizan; Colombani, Paul M

    2015-01-01

    Noonan syndrome is a genetic condition that can present with complex thoracic defects, the management of which often presents a surgical challenge. We present the surgical approach applied to a severe combined excavatum/carinatum deformity that had resulted in a Z-type configuration of the chest in a 9-year-old girl with Noonan syndrome. Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  9. Thoracoscopic cartilage resection with partial perichondrium preservation in unilateral pectus carinatum: preliminary results.

    PubMed

    Varela, Patricio; Torre, Michele

    2011-01-01

    Although minimally invasive repair of pectus excavatum has gained worldwide acceptance, treatment of pectus carinatum is mostly performed with open procedures. Different minimally invasive alternatives have been proposed in the last few years, including subpectoral CO(2) dissection and intrathoracic compression (Abramson technique), or conservative procedures, as dynamic compression system. Recently, another surgical technique has been proposed for the treatment of unilateral pectus carinatum, consisting of a thoracoscopic approach and multiple cartilage incisions. The aim of this work is to present our modification to this approach. We have modified this technique by introducing complete cartilage resection of all anomalous costal cartilages, performed thoracoscopically. Three thoracoscopic ports were used. Cartilage is removed progressively using a rongeur and preserving the anterior perichondrium. We have performed this technique in 4 patients during the last year. Follow-up ranged from 6 to 14 months. No intraoperative or postoperative complications were observed. The results, assessed by the patients themselves, were good in 2 cases, quite good in one, and fair in the first patient of our series, who was reoperated using a classical open approach. Pain was well controlled without the need of an epidural catheter. Thoracoscopic cartilage resection with perichondrium preservation can be considered as feasible alternative for the treatment of unilateral pectus carinatum. Copyright © 2011 Elsevier Inc. All rights reserved.

  10. Minimally invasive repair of pectus carinatum and how to deal with complications

    PubMed Central

    Aragone, Xavier; Blanco, Javier Borbore; Ciano, Alejandro; Abramson, Leonardo

    2016-01-01

    While less common than pectus excavatum, pectus carinatum is also a chest wall deformity affecting males in higher proportion than women. Patient requests for a solution of this disease occur especially during the growth spurt of puberty when this malformation becomes more obvious and difficult to conceal. Those people suffering from pectus carinatum are very likely subject to behavioral changes and negative personality impacts. By compressing the protruding anterior region of the chest wall we achieve correction of the chest contour and simultaneous lateral expansion of the depressed costochondral arches. This original technique and the procedure to apply it fit within the category of minimally invasive surgery. The compression system acts in a way similar to that of orthodontic braces. Two rectangular fixation plates are fixed to the compression strut with screws. The plates have threaded holes along a groove in the central portion, and two holes at both ends used to attach them to the ribs by means of steel wire suture. The compression strut has to be modified into a convex shape to adapt it to the particular characteristics of the patient’s malformation. This molding is done using benders designed as part of the procedure. PMID:29078492

  11. Improved cardiac function and exercise capacity following correction of pectus excavatum: a review of current literature.

    PubMed

    Maagaard, Marie; Heiberg, Johan

    2016-09-01

    Patients with pectus excavatum (PE) often describe improvements in exercise stamina following corrective surgery. Studies have investigated the surgical effect on physiological parameters; still, no consensus has yet been reached. Therefore, the aim of this literature review was to describe the cardiac outcome after surgical correction, both at rest and during exercise. In February 2016, a detailed search of the databases PubMed, Medline, and EMBASE was performed. We assessed clinical studies that described cardiac outcomes both before and after surgical correction of PE. We only included studies reporting either pre-defined echocardiographic or exercise test parameters. No exclusion criteria or statistical analyses were applied. Twenty-one full-text articles, published between 1972 and 2016, were selected, with cohort-ranges of 3-168 patients, mean age-ranges of 5-33 years, and mean follow-up-ranges from immediately to 4 years after surgery. Twelve studies described resting cardiac parameters. Four studies measured cardiac output, where one described 36% immediate increase after surgery, one reported 15% increase after Nuss-bar removal and two found no difference. Three studies demonstrated improvement in mean stroke volume ranges of 22-34% and two studies found no difference. Fifteen studies investigated exercise capacity, with 11 considering peak O 2 pr. kg, where five studies demonstrated improvements with the mean ranging from 8% to 15% after surgery, five studies demonstrated no difference, and one saw a decrease of 19% 3 months after Nuss-bar implantation. A measurable increase in exercise capacity exists following surgery, which may be caused by multiple factors. This may be owed to the relief of compressed cardiac chambers with the increased anterior-posterior thoracic dimensions, which could facilitate an improved filling of the heart. With these results, the positive physiological impact of the surgery is emphasized and the potential gain in cardiac

  12. Improved cardiac function and exercise capacity following correction of pectus excavatum: a review of current literature

    PubMed Central

    Heiberg, Johan

    2016-01-01

    Patients with pectus excavatum (PE) often describe improvements in exercise stamina following corrective surgery. Studies have investigated the surgical effect on physiological parameters; still, no consensus has yet been reached. Therefore, the aim of this literature review was to describe the cardiac outcome after surgical correction, both at rest and during exercise. In February 2016, a detailed search of the databases PubMed, Medline, and EMBASE was performed. We assessed clinical studies that described cardiac outcomes both before and after surgical correction of PE. We only included studies reporting either pre-defined echocardiographic or exercise test parameters. No exclusion criteria or statistical analyses were applied. Twenty-one full-text articles, published between 1972 and 2016, were selected, with cohort-ranges of 3–168 patients, mean age-ranges of 5–33 years, and mean follow-up-ranges from immediately to 4 years after surgery. Twelve studies described resting cardiac parameters. Four studies measured cardiac output, where one described 36% immediate increase after surgery, one reported 15% increase after Nuss-bar removal and two found no difference. Three studies demonstrated improvement in mean stroke volume ranges of 22–34% and two studies found no difference. Fifteen studies investigated exercise capacity, with 11 considering peak O2 pr. kg, where five studies demonstrated improvements with the mean ranging from 8% to 15% after surgery, five studies demonstrated no difference, and one saw a decrease of 19% 3 months after Nuss-bar implantation. A measurable increase in exercise capacity exists following surgery, which may be caused by multiple factors. This may be owed to the relief of compressed cardiac chambers with the increased anterior-posterior thoracic dimensions, which could facilitate an improved filling of the heart. With these results, the positive physiological impact of the surgery is emphasized and the potential gain in cardiac

  13. The effect of minimally invasive surgical repair on the lung volumes of patients with pectus excavatum.

    PubMed

    Sengul, Aysen Taslak; Sahin, Bunyamin; Celenk, Cetin; Basoglu, Ahmet; Sengul, Bilal

    2014-04-01

    To assess the increase in lung volume after Nuss surgery in patients with pectus excavatum (PE) by using stereological methods and to evaluate the correlation between the lung volume and spirometry findings. Twenty patients, treated for PE between 2008 and 2010, were evaluated prospectively. They underwent preoperative chest radiography, computed thorax tomography (CTT), and spirometry. Thereafter, the Haller index was calculated for each patient. In the third postoperative month, CTT and spirometry were repeated.Lung volumes and volume fractions were evaluated using CTT images, applying the Cavalieri principle for stereological methods. Then the correlation between the pre- and postoperative values of the lung volumes with spirometry findings was determined. Volumes of the right and left lungs were calculated stereologically, using CTT images. Postoperative volume increase of ∼417.6 ± 747.6 mL was detected. The maximum volume increase was observed in the left lung. In the postoperative period, the total volume increase and the volume increase detected in the left lung were found to be statistically significant (p < 0.05).The preoperative correlation coefficients (r) for forced vital capacity, forced expiratory volume in 1 second, and forced expiratory flow 25 to 75% were 0.67, 0.68, and 0.61, respectively; the postoperative r figures were 0.43, 0.42, and 0.35, respectively. Although there was a strong correlation between the preoperative lung volume and spirometry findings (p < 0.05), no correlation was observed between the postoperative lung volume and spirometry findings (p > 0.05). Postoperative pulmonary volume increase occurs in patients with PE after Nuss surgery. However, postoperative spirometry findings may not reflect morphological improvement because pain restricts thoracic movements. Therefore, in patients with PE, quantitative evaluation of the results of surgical repair is possible using the CTT images through a combination of

  14. Pectus patient information website has improved access to care and patient reported outcomes.

    PubMed

    Tikka, Theofano; Webb, Joanne; Agostini, Paula; Kerr, Amy; Mannion, Glenn; Steyn, Richard S; Bishay, Ehab; Kalkat, Maninder S; Rajesh, Pala B; Naidu, Babu

    2016-04-26

    Pectus is the most common congenital disorder. Awareness amongst primary care physicians and the general public is poor. NHS commissioning bodies plan to withdraw funding for this surgery because they deem a lack of sufficient evidence of benefit. The purpose of this study is to assess the effects of introducing a patient information website on referral and activity patterns and on patients reported outcomes. We produced an innovative information website, www.pectus.co.uk , accessible to the general public, providing information about pectus deformities; management options and advice about surgery. Referral patterns and number of cases where studied before and after the introduction of the website in 2010. Patients' satisfaction post-op was assessed using the Brompton's single step questionnaire (SSQ). The website had considerable traffic with 2179 hits in 2012, 4983 in 2013 and 7416 in 2014. This has led to 1421 contacts and 372 email enquiries. These emails have resulted in an increased number of patients who have been assessed and go on to have surgery. We asked 59 pectus excavatum patients who were operated from 2008 to 2014 to complete the SSQ. We received 32 replies. Eighty-four percent (16/19) of patients who visited the website and then underwent surgery, found the website useful. All patients scored satisfactorily in SSQ. Even though those who visited the website tended to be more satisfied with the surgical outcomes this did not reach statistical significance. This group of patients said that would have the operation again given the option compared to 76.9 % of the group who did not visit the website before surgery (p=0.031). Despite the fact that patients who visited the website experienced more post-operative complications were equally or more satisfied with post-operative outcomes. The overall SSQ obtainable score was not different for the two subgroups, being more widespread in the group that did not visit the website. The introduction of a pectus

  15. A 20-year review of pectus surgery: an analysis of factors predictive of recurrence and outcomes.

    PubMed

    Tikka, Theofano; Kalkat, Maninder S; Bishay, Ehab; Steyn, Richard S; Rajesh, Pala B; Naidu, Babu

    2016-12-01

    Only a few studies report the long-term outcomes following repair of pectus excavatum (PE) and pectus carinatum (PC). Predictors of recurrence after surgery are important in this group of young patients. The purpose of this study was to assess the short- and long-term outcomes of both PE and PC and identify factors associated with postoperative complications and pectus recurrence. This was a retrospective observational study that included all patients who underwent primary or recurrent repair of PC and PE in a regional thoracic centre over 20 years. Patients' demographics, type of surgery, complications and recurrence were recorded. Logistic regression analysis was performed to identify factors predictive of pectus recurrence. A total of 297 patients were included (262 men and 35 women). The mean age was 19.8 years (95% CI 19.3-20.5). A total of 169 patients had surgery for PE and 127 for PC. A total of 243 patients had a modified Ravitch procedure (166 without a bar) and 53 patients underwent the Nuss repair. The main postoperative complications were wound infection and bleeding or haematoma. The recurrence rate over the mean follow-up period of 8.6 years was 10%. In PE, patients treated with the Ravitch procedure with the bar experienced more complications. Univariate and multivariate analyses showed that PE patients who developed a complication had a significantly increased chance of recurrence. No risk factors were linked with recurrence of PC. Life-transforming pectus surgery can be performed with low morbidity and good long-term outcomes. Recurrence of PE deformity is associated with the development of postoperative complications. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  16. Rapidly progressive Scheuermann's disease in an adolescent after pectus bar placement treated with posterior vertebral-column resection: case report and review of the literature.

    PubMed

    Sugrue, Patrick A; OʼShaughnessy, Brian A; Blanke, Kathy M; Lenke, Lawrence G

    2013-02-15

    Case report and review of the literature. This case illustrates the importance of the costosternal complex in maintaining the stability and alignment of the thoracic spine. The patient was iatrogenically destabilized by placement of a pectus bar leading to rapid symptomatic progression of his Scheuermann's kyphosis, ultimately requiring surgical correction. Scheuermann's kyphosis is a disease process defined by strict radiographical and clinical criteria. Surgical treatment is generally recommended for curves greater than 75°. This case demonstrates the critical role of the costosternal complex in maintaining the stability of the thoracic spine. The patient described in this report underwent placement of a pectus bar for correction of symptomatic pectus excavatum. He subsequently developed a progressive symptomatic Scheuermann's kyphosis as a result of the destabilization of his costosternal complex. This patient ultimately required removal of the pectus bar and posterior instrumented kyphosis correction. Progressive symptomatic Scheuermann's kyphosis (105°) corrected by removal of the pectus bar, T11 posterior vertebral-column resection and T4-L3 instrumented posterior spinal fusion. The patient had an uneventful immediate postoperative course. He was discharged neurologically intact with dramatic kyphosis correction and significant symptomatic improvement. Radiographs obtained 3 years postoperatively reveal stable thoracolumbar correction. The costosternal complex plays a critically important role in the intrinsic stability of the thoracic spine. Iatrogenic disruption of the costosternal complex can result in rapid progression of thoracic/thoracolumbar kyphosis in the setting of Scheuermann's disease.

  17. Pectus carinatum.

    PubMed

    Desmarais, Thomas J; Keller, Martin S

    2013-06-01

    Pectus carinatum has been termed the undertreated chest wall deformity. Recent advances in patient evaluation and management, including the development of nonoperative bracing protocols, have improved the care of children with this condition. Recent evidence confirms that children with pectus carinatum have a disturbed body image and a reduced quality of life. Treatment has been shown to improve the psychosocial outcome of these patients. Patients with pectus carinatum are at risk for a disturbed body image and reduced quality of life. Until recently, treatment required surgical reconstruction. A growing body of literature, however, now supports the use of orthotic bracing as a nonoperative alternative in select patients. This article reviews the current literature and describes the evaluation and management of children with pectus carinatum deformity.

  18. Pectus carinatum

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/003321.htm Pectus carinatum To use the sharing features on this page, please enable JavaScript. Pectus carinatum is present when the chest protrudes over the ...

  19. Pectus carinatum.

    PubMed

    Robicsek, Francis; Watts, Larry T

    2010-11-01

    Pectus carinatum or keel chest is a spectrum of progressive inborn anomalies of the anterior chest wall, named after the keel (carina) of ancient Roman ships. It defines a wide spectrum of inborn protrusion anomalies of the sternum and/or the adjacent costal cartilages. Pectus carinatum is often associated with various conditions, notably Marfan disease, homocystinuria, prune belly, Morquio syndrome, osteogenesis imperfecta, Noonan syndrome, and mitral valve prolapse. Treatment of pectus carinatum by nonsurgical methods such as exercise and casting has not been worthwhile, whereas surgical management is simple and successful.

  20. Surgical correction of pectus arcuatum

    PubMed Central

    Ershova, Ksenia; Adamyan, Ruben

    2016-01-01

    Background Pectus arcuatum is a rear congenital chest wall deformity and methods of surgical correction are debatable. Methods Surgical correction of pectus arcuatum always includes one or more horizontal sternal osteotomies, resection of deformed rib cartilages and finally anterior chest wall stabilization. The study is approved by the institutional ethical committee and has obtained the informed consent from every patient. Results In this video we show our modification of pectus arcuatum correction with only partial sternal osteotomy and further stabilization by vertical parallel titanium plates. Conclusions Reported method is a feasible option for surgical correction of pectus arcuatum. PMID:29078483

  1. Further experience with the operative management of asphyxiating thoracic dystrophy after pectus repair.

    PubMed

    Weber, Thomas R

    2005-01-01

    Asphyxiating thoracic dystrophy (ATD) can occur years after a Ravitch-type repair of pectus excavatum, resulting in debilitating alteration in pulmonary function (PFT). An operation was devised to attempt repair of this deformity. After institutional review board approval, the records of 10 children (ages 9-18 years) with ATD that developed 4 to 12 years postpectus operation who underwent attempted repair of ATD were reviewed. Data obtained before ATD operation and at 6, 12, and 24 months afterward included chest computed tomography, pulmonary functions (PFT), and a quality of life questionnaire. The operation consisted of sternal split with rib graft placement to permanently hold the sternum apart. All children survived and the bone grafts healed solidly. Computed tomography showed a change from a flat to a round chest contour on cross section, with increased anteroposterior dimension. Two patients had no change in PFT at 24 months whereas the other 8 had 21% to 30% improvement in PFT parameters. All patients reported improved exercise tolerance, and 3 began sports activities who were previously unable to do so. Two patients on oxygen, essentially bedridden, are now active, breathing only room air. Seven of 10 patients continue to have cosmetic concerns. A small population of patients who had postoperative pectus repair developed severe, debilitating ATD. The repair described improves most patients, some dramatically, but does not significantly improve cosmetic appearance. The operation is undergoing further refinement to address these issues.

  2. Anesthesia for minimally invasive chest wall reconstructive surgeries: Our experience and review of literature

    PubMed Central

    Shah, Shagun Bhatia; Hariharan, Uma; Bhargava, Ajay Kumar; Darlong, Laleng M.

    2017-01-01

    Minimal access procedures have revolutionized the field of surgery and opened newer challenges for the anesthesiologists. Pectus carinatum or pigeon chest is an uncommon chest wall deformity characterized by a protruding breast bone (sternum) and ribs caused by an overgrowth of the costal cartilages. It can cause a multitude of problems, including severe pain from an intercostal neuropathy, respiratory dysfunction, and psychologic issues from the cosmetic disfigurement. Pulmonary function indices, namely, forced expiratory volume over 1 s, forced vital capacity, vital capacity, and total lung capacity are markedly compromised in pectus excavatum. Earlier, open surgical correction in the form of the Ravitch procedure was followed. Currently, in the era of minimally invasive surgery, Nuss technique (pectus bar procedure) is a promising step in chest wall reconstructive surgery for pectus excavatum. Reverse Nuss is a corrective, minimally invasive surgery for pectus carinatum chest deformity. A tailor-made anesthetic technique for this new procedure has been described here based on the authors’ personal experience and thorough review of literature based on Medline, Embase, and Scopus databases search. PMID:28757834

  3. The prevalence and effects of Pectus Excavatum and Pectus Carinatum on the respiratory function in children between 7-14 years old.

    PubMed

    Coskun, Zafer Kutay; Turgut, Hasan Basri; Demirsoy, Sadik; Cansu, Ali

    2010-09-01

    The study involved 1342 primary school students aged 7-14 years who applied to Ankara, a primary care center for general health check-up between 2006 and 2007. Forty-three students, 35 of whom had PE and 8 of whom had PC, were subjected to thorax measurement. All 43 students underwent pulmonary function tests (PFT).The prevalence rate of PC was 0.6%, and of PE, 2.6%. The thorax widths of the groups were similar (P = 0.273). The thorax circumference and depth of PE group were lower than those of the controls (P < 0.05). The probability rate of abnormality in PFT scores of PE group was statistically significantly higher than that of the controls (P = 0.022) whereas absence of normal PFT scores the difference between PC group and the controls was not statistically significant (p = 0.095). The results indicate that more than half of the individuals with pectus deformity do not have any physical complaints and do not have statistically significant differences in their PFT parameters.

  4. Pectus excavatum - discharge

    MedlinePlus

    ... will be removed in 6 to 12 months. Home Care You or your child should walk often during the day to build up strength. You may need to help your child get in and out of bed during the first 1 to 2 weeks after surgery. During the first month at home, be sure you or your child: Always bend ...

  5. Pectus excavatum repair

    MedlinePlus

    ... the chest Tell the surgeon or nurse about: Medicines your child is taking. Include drugs, herbs, vitamins, or any ... hospital, you will receive a prescription for pain medicine for your child. At home, follow any instructions for caring for ...

  6. Staged management of pectus carinatum.

    PubMed

    Cohee, Amy S; Lin, James R; Frantz, Frazier W; Kelly, Robert E

    2013-02-01

    The aim was to report the treatment of pectus carinatum with a novel Argentine brace and operation. The bracing and clinical data of 137 consenting pectus carinatum patients treated between October 2008 and December 2011 were reviewed for outcome. Institutional approval was obtained. Data are reported as median (range). Median age 122 bracing patients was 14 (10-28)years with 67 (55%) progressing under active treatment. Five patients (4%) were lost to follow-up, and thirteen (11%) failed treatment. Thirty-seven patients (30%) exhibited flattening of the sternum after 6 (1-24)months without surgery. After flattening, patients then wore the brace for progressively fewer hours each day as a "retainer" for 5 (3-19)months. Five patients (4%) experienced recurrence 5 (3-7)months after brace treatment was discontinued. Complications were limited to transient skin breakdown in nine patients. Three of the 13 Argentine brace failures and 15 other pectus carinatum patients were treated surgically. Thirteen underwent Abramson's minimally invasive operation and five an open repair, all with good initial correction. For Abramson repairs, seven patients have had bars removed, with results rated as excellent (n=4), good (n=2), and failure (n=1, converted to open with excellent result later). In three patients with stiff chests, costal cartilage was resected thoracoscopically during the Abramson repair with measurably improving compliance. Staged treatment of pectus carinatum allows most teenagers to be managed non-operatively. For patients who fail bracing or are not amenable to bracing, minimally invasive surgical treatment for pectus carinatum is a viable option. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. [Dynamic compression brace for pectus carinatum].

    PubMed

    de Beer, Sjoerd A; de Jong, Justin R; Heij, Hugo A

    2013-01-01

    Pectus carinatum occurs in one of 1500-1700 people and may lead to physical, cosmetic and psychosocial problems. Surgical treatment of pectus carinatum is performed using the 'Ravitch procedure'. An alternative and less invasive treatment consists of external compression with a brace. Results are often disappointing because of skin complications, a low level of comfort of the brace and low compliance. Nowadays a new brace (dynamic compression brace) exists with which the comfort and thus the compliance can be increased by measuring and regulating the pressure of correction during the treatment. This leads to better results and fewer complications. In 80-90% of patients the results are good to excellent and an operation can be avoided. This new brace is therefore a less invasive, cheap and safe alternative to the Ravitch procedure in the treatment of pectus carinatum in children.

  8. MyPectus: First-in-human pilot study of remote compliance monitoring of teens using dynamic compression bracing to correct pectus carinatum.

    PubMed

    Harrison, Brittany; Stern, Lily; Chung, Philip; Etemadi, Mozziyar; Kwiat, Dillon; Roy, Shuvo; Harrison, Michael R; Martinez-Ferro, Marcelo

    2016-04-01

    Patient compliance is a crucial determinant of outcomes in treatments involving medical braces, such as dynamic compression therapy for pectus carinatum (PC). We performed a pilot study to assess a novel, wireless, real-time monitoring system (MyPectus) to address noncompliance. Eight patients (10-16years old) with moderately severe PC deformities underwent bracing. Each patient received a data logger device inserted in the compression brace to sense temperature and pressure. The data were transmitted via Bluetooth 4.0 to an iOS smartphone app, then synced to cloud-based storage, and presented to the clinician on a web-based dashboard. Patients received points for brace usage on the app throughout the 4-week study, and completed a survey to capture patient-reported usage patterns. In all 8 patients, the data logger sensed and recorded data, which connected through all MyPectus system components. There were occasional lapses in data collection because of technical difficulties, such as limited storage capacity. Patients reported positive feedback regarding points. The components of the MyPectus system recorded, stored, and provided data to patients and clinicians. The MyPectus system will inform clinicians about issues related to noncompliance: discrepancy between patient-reported and sensor-reported data regarding brace usage; real-time, actionable information; and patient motivation. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Lung Entrapment between the Pectus Bar and Chest Wall after Pectus Surgery: An Incidental Finding during Video-Assisted Thoracoscopic Surgery

    PubMed Central

    Kim, Kyung Soo; Hyun, Kwanyong; Kim, Do Yeon; Choi, Kukbin; Choi, Hahng Joon; Park, Hyung Joo

    2015-01-01

    We report a case of an entrapped lung after the pectus bar repair of a pectus deformity. The entrapped lung was found incidentally during video-assisted thoracoscopic surgery (VATS) for pneumothorax. Based on VATS exploration, multiple bullae seemed to be the cause of the pneumothorax, but the entrapped lung was suspected to have been a cause of the air leakage. PMID:26509135

  10. Effect of the compressive brace in pectus carinatum.

    PubMed

    Lee, Seock Yeol; Lee, Seung Jin; Jeon, Cheol Woo; Lee, Cheol Sae; Lee, Kihl Rho

    2008-07-01

    Patients with pectus carinatum complain of cosmetic problems because they stand out in spite of wearing clothes. Surgical treatment of pectus carinatum is resection of the deformed cartilage but a wide operative scar, postoperative pain and complications related with the operation can occur. Therefore we have performed compressive brace therapy as a non-operative treatment of pectus carinatum, and observed the effects and the efficiency of this treatment. From January 2001 to December 2007, 119 patients with pectus carinatum were treated with a compressive brace that they wore for 24h each day. Their degree of satisfaction was measured after 6 months wearing. This was evaluated with a score of 1-4. A score of 1 was assigned when the status was worse, 2 when it was same, 3 when partially improved, and 4 when a remarkable improvement was observed. Satisfaction was assessed subjectively by a parent if the patient was a child, and patients older than middle school age assessed the score themselves. The mean overall satisfaction score was 3.95+/-0.4. Recurrence of pectus carinatum after removal of the compressive brace occurred in 6 (5.0%) of the total 119 patients. Four of these six patients stopped wearing the compressive brace against our advice. These six patients were re-corrected by re-wearing the compressive brace within 3 months after they originally removed it. Complications were discomfort at initial wearing of the brace, which occurred in all patients, skin rash due to compression for 84 patients (70.6%) and skin discoloration due to excessive compression for 18 patients (15.1%). The skin rash and discoloration disappeared within a few months after removal of the brace. This study demonstrated that non-surgical treatment using a compressive brace in patients with pectus carinatum was effective, especially in children and teenagers. Non-surgical treatment using a compressive brace in patients with pectus carinatum would be helpful for those who dislike surgery

  11. [MINIMALLY INVASIVE PROCEDURE FOR CORRECTION OF PECTUS CARINATUM].

    PubMed

    Xu, Bing; Liu, Wenying

    2015-04-01

    To explore the method and experience in correction of pectus carinatum with minimally invasive procedure. Between June 2010 and January 2014, 30 patients with pectus carinatum were corrected by minimally invasive procedure. There were 21 boys and 9 girls whose average age was 13 years and 2 months (range, from 8 years and 10 months to 18 years and 9 months), including 24 cases of first operation, 2 recurrence after traditional pectus carinatum correction, and 4 cases secondary to median thoracotomy. Thirty patients had symmetric and asymmetric mild pectus carinatum. The operation was performed successfully in all patients, and no severe complication occurred. The operation time was 42-95 minutes (mean, 70 minutes). The bleeding volume during operation was 4-30 mL (mean, 10 mL). The time from operation to discharge was 6-10 days (mean, 7 days). The average time of follow-up was 25 months (range, 9-54 months). All surgical wound healed primarily with no infection. The X-ray films showed slight pneumothorax in 7 cases, and it was absorbed after 1 month without treatment. Loosening of internal fixation was found in 1 patient because of trauma at 6 months, and operation was performed again. The bar was removed at 2 years in 21 patients. The patients had good thoracic contour and normal activity. Minimally invasive procedure for correction of pectus carinatum is safe and will get satisfactory effect in maintaining thoracic contour. It has also less trauma and shorter operation time.

  12. Clinical experience with orthotic repair of pectus carinatum.

    PubMed

    Al-Githmi, Iskander S

    2016-01-01

    Pectus carinatum is a congenital chest wall deformity characterized by protrusion of the sternum and adjacent costal cartilages. Multiple treatment options are available for correction of pectus carinatum. We report our initial experience with first-line treatment using a custom fitted dynamic compression orthosis. Prospective evaluation of all patients seen between November 2013 and December 2014. University hospital. The treatment protocol for patients who had pressure for initial correction.

  13. A new technique for mixed-type pectus carinatum: modified Onen method.

    PubMed

    Akkas, Yucel; Kocer, Bulent; Peri, Neslihan Gulay

    2016-02-01

    We modified the Onen method for pectus carinatum repair and used a vertical incision instead of a transverse incision. The most important advantage gained by the vertical incision is that we can switch to the Ravitch method without needing an additional incision, by elongating the existing incision in patients in whom a pectus bar cannot be placed. We successfully performed the modified Onen technique in a 16-year-old boy with a mixed-type pectus carinatum deformity. © The Author(s) 2016.

  14. Modified Nuss repair for pectus carinatum.

    PubMed

    Poullis, Michael

    2010-09-01

    A minimally-invasive modified Nuss technique is described for pectus carinatum which has reduced risk of cardiac perforation compared to a standard Nuss procedure, and avoids performing the Ravitch procedure.

  15. Anaesthetic considerations for pectus repair surgery

    PubMed Central

    Patvardhan, Chinmay

    2016-01-01

    Repair of pectus is one of the most common congenital abnormality for which patient presents for thoracic surgery. In recent years, innovative minimally invasive techniques involving video assisted thoracoscopy for pectus repair have become the norm. Similarly, anaesthetic techniques have evolved to include principles of enhanced recovery, multimodal analgesia and innovative ultrasound guided neuraxial and nerve blocks. Adequate anaesthetic set up and monitoring including the use of real time intraoperative monitoring with transesophageal echocardiography (TOE) has enabled the anaesthetist to enhance patient safety by providing instantaneous imaging of cardiac compression and complications during surgery. In this review article we aim to provide non-systematic review and institutional experience of our anaesthetic strategy to provide effective peri-operative care in this patient group. PMID:29078504

  16. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Schimmenti, L.A.; Berry, S.A.; Tuchman, M.

    The authors report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.

  17. Pectus Carinatum: Factors That Contribute to Success and Failure of Nonoperative Treatment.

    PubMed

    Thaker, Shefali; Anderson, Matthew; Fezio, James; Rader, Christine; Misra, Meghna V

    2017-04-01

    Pectus carinatum is a congenital chest wall deformity characterized by protrusion ofthe sternum and ribs. External bracing has been the gold standard treatment for this condition for the past 20 years. The primary purpose of the study was to identify factors that contribute to treatment success of bracing for patients with pectus carinatum. The secondary aim was to identify the optimal age to recommend bracing for pectus carinatum. 176 patients who were evaluated for a brace for pectus carinatum were contacted to participate in an online survey about their experience. A retrospective chart review was conducted on patients who participated in the survey. Subjects rated themselves as more confident afterbracing(P=.002). Patients who hadfamily sup- port, and no documented complaints (P = .024) and (P = .009) respectively, were more likely to say they had made the right choice to wear the brace. This study demonstrated that family support and fewer complaints are predictors of success for the brace.

  18. Quality of life of patients who have undergone the minimally invasive repair of pectus carinatum.

    PubMed

    Bostanci, Korkut; Ozalper, Mehmet Hakan; Eldem, Barkin; Ozyurtkan, Mehmet Oguzhan; Issaka, Adamu; Ermerak, Nezih Onur; Yuksel, Mustafa

    2013-01-01

    Several studies previously demonstrated an improvement in the quality of life (QoL) of the patients undergoing a minimally invasive repair of pectus excavatum, but there are no data about such improvement following the minimally invasive repair of pectus carinatum (PC) deformity. The purpose of this study was to investigate the effects of the minimally invasive repair of PC deformity on the psychosocial and physical functioning of the patients. Among 40 patients who underwent minimally invasive repair for PC deformity from July 2008 to March 2011, 35 patients accepted to answer the QoL questionnaires, and 30 of them who had completed the postoperative 6th month were evaluated in this study. The modified two-step Nuss questionnaire was used for the QoL assessment. All patients and their parents completed the appropriate questionnaires regarding the patients' preoperative psychosocial and physical functioning, and they were asked to answer the same questions on the postoperative 6th month. The results from these questionnaires were analysed using Wilcoxon signed rank test to investigate the effects of the minimally invasive repair of PC deformity on psychosocial and physical functioning of the patients. The questionnaires used in the study confirmed the positive impact of the surgical correction on psychosocial and physical well-being in the patients and their parents. Spearman's ρ correlation coefficient determined how well the answers to the same question at two different times correlated with each other, and Cronbach's alpha demonstrated the internal consistency of these answers. These two parameters showed that the statistical results of the study were reliable enough. Statistical analysis of the scoring of the individual questions and the total scoring of individual patients revealed a statistically significant improvement (P < 0.05) following surgery. Similar significant improvements were observed in the total scoring of individual parents and in most scoring

  19. Brace Compression for Treatment of Pectus Carinatum

    PubMed Central

    Jung, Joonho; Chung, Sang Ho; Cho, Jin Kyoung; Park, Soo-Jin; Choi, Ho

    2012-01-01

    Background Surgery has been the classical treatment of pectus carinatum (PC), though compressive orthotic braces have shown successful results in recent years. We propose a non-operative approach using a lightweight, patient-controlled dynamic chest-bracing device. Materials and Methods Eighteen patients with PC were treated between July 2008 and June 2009. The treatment involved fitting of the brace, which was worn for at least 20 hours per day for 6 months. Their degree of satisfaction (1, no correction; 4, remarkable correction) was measured at 12 months after the initiation of the treatment. Results Thirteen (72.2%) patients completed the treatment (mean time, 4.9±1.4 months). In patients who completed the treatment, the mean overall satisfaction score was 3.73±0.39. The mean satisfaction score was 4, and there was no recurrence of pectus carinatum in patients who underwent the treatment for at least 6 months. Minimal recurrence of pectus carinatum after removal of the compressive brace occurred in 5 (38.5%) patients who stopped wearing the compressive brace at 4 months. Conclusion Compressive bracing results in a significant improvement in PC appearance in patients with an immature skeleton. However, patient compliance and diligent follow-up appear to be paramount for the success of this method of treatment. We currently offer this approach as a first-line treatment for PC. PMID:23275922

  20. Brace compression for treatment of pectus carinatum.

    PubMed

    Jung, Joonho; Chung, Sang Ho; Cho, Jin Kyoung; Park, Soo-Jin; Choi, Ho; Lee, Sungsoo

    2012-12-01

    Surgery has been the classical treatment of pectus carinatum (PC), though compressive orthotic braces have shown successful results in recent years. We propose a non-operative approach using a lightweight, patient-controlled dynamic chest-bracing device. Eighteen patients with PC were treated between July 2008 and June 2009. The treatment involved fitting of the brace, which was worn for at least 20 hours per day for 6 months. Their degree of satisfaction (1, no correction; 4, remarkable correction) was measured at 12 months after the initiation of the treatment. Thirteen (72.2%) patients completed the treatment (mean time, 4.9±1.4 months). In patients who completed the treatment, the mean overall satisfaction score was 3.73±0.39. The mean satisfaction score was 4, and there was no recurrence of pectus carinatum in patients who underwent the treatment for at least 6 months. Minimal recurrence of pectus carinatum after removal of the compressive brace occurred in 5 (38.5%) patients who stopped wearing the compressive brace at 4 months. Compressive bracing results in a significant improvement in PC appearance in patients with an immature skeleton. However, patient compliance and diligent follow-up appear to be paramount for the success of this method of treatment. We currently offer this approach as a first-line treatment for PC.

  1. Management of Congenital Chest Wall Deformities

    PubMed Central

    Blanco, Felix C.; Elliott, Steven T.; Sandler, Anthony D.

    2011-01-01

    Congenital chest wall deformities are considered to be anomalies in chest wall growth. These can be categorized as either rib cage overgrowth or deformities related to inadequate growth (aplasia or dysplasia). Rib cage overgrowth leads to depression of the sternum (pectus excavatum) or protuberance of the sternum (pectus carinatum) and accounts for greater than 90% of congenital chest wall deformities. The remaining deformities are a result of inadequate growth. Evolution in the management of congenital chest wall deformities has made significant progress over the past 25 years. This article will review chest wall deformities and the current management strategies of these interesting anomalies. PMID:22294949

  2. Minimally invasive repair of symmetric pectus carinatum: bilateral thoracoscopic chondrotomies and suprasternal compression bar placement.

    PubMed

    Bell, Robert; Idowu, Olajire; Kim, Sunghoon

    2012-11-01

    We previously reported a novel minimally invasive repair for unilateral pectus carinatum. We have now modified this approach for the repair of symmetric bilateral pectus carinatum. Using thoracoscopy, parasternal chondrotomies were performed at multiple rib levels at points of maximal sternal protrusion. The sternum was depressed to an appropriate position and maintained using a suprasternal metal compression bar. The bar was applied in a submuscular plane and anchored to the lateral ribs with sutures. Bars were removed after 6 months. Three patients with severe symmetric pectus carinatum underwent the repair. The first patient returned to the operating room after 1 month for repeat fixation of the bar after suture breakage. No other complications occurred. Operative times were comparable to published series. Patient satisfaction after the repair was good. Minimally invasive thoracoscopic repair of symmetric pectus carinatum using chondrotomies and suprasternal bar compression is a feasible alternative to open repair.

  3. Assessment of bacterial diversity in Hyalomma aegyptium, H. marginatum and H. excavatum ticks through tag-encoded pyrosequencing.

    PubMed

    Keskin, Adem; Bursali, Ahmet; Snow, David E; Dowd, Scot E; Tekin, Saban

    2017-12-01

    Ticks are among the most significant human-biting ectoparasites and they play a major role in transmission of many pathogenic agents to humans. In the present study, three species of Hyalomma ticks, Hyalomma aegyptium, H. marginatum and H. excavatum, were examined for the presence of zoonotic bacteria, both male and female ticks alike. Examination of microbial diversity with tag-encoded pyrosequencing indicates that H. marginatum and H. excavatum were more diversity rich than H. aegyptium. Although numerous pathogenic and non-pathogenic bacterial genera were detected, including Acidovorax, Bacillus, Bacteroides, Bdellovibrio, Clostridium, Curvibacter, Escherichia, Flavobacterium, Limnohabitans, Paenibacillus, Ralstonia, Sarcina, Sediminibacterium, Segetibacter Stenotrophomonas and Variovorax, the predominant zoonotic bacteria represented in these ticks were genera Borrelia, Francisella, and Rickettsia. To the authors' knowledge, this work represents the first detection of Yersinia enterocolitica in the tick H. excavatum, raising questions regarding the vector competency of this tick, as well as associations of different disease representations perhaps through previously unforeseen routes of pathogen introduction. Likewise, similar questions are related to the presence of Legionella pneumophila in one H. excavatum sample.

  4. [Surgery in times of crisis: conservative treatment of pectus carinatum by static corset].

    PubMed

    Redondo Sedano, J V; Delgado Muñoz, M D; Martí Carrera, M E; Gómez Fraile, A

    2017-04-20

    Dynamic compression system is the elective treatment for chondrogladiolar pectus carinatum. Nevertheless, its high cost poses a problem for its prescription in places where it is not subsidized. This article analyzes the experience of the Paediatric Plastic Surgery Service at a third grade hospital in the treatment of this deformity with a static compression system. The study presents a descriptive, retrospective analysis of 30 patients with pectus carinatum treated with a static compression system. Furthermore, we describe the protocol of treatment used at our unit, and we analyse the satisfaction with bracing therapy, and its relation to therapeutic compliance. The study includes 28 boys and 2 girls. 93% of the patients presented a chondrogladiolar pectus carinatum. At the moment of finishing the study, 11 patients have completed the treatment, 14 still bracing, and 5 were lost in the follow-up. Satisfaction questionnaires were answered by 19 patients. Bracing therapy with static compression system is the treatment of choice for chondrogladiolar pectus carinatum in our unit, because of its effectiveness and lower price. Quality of life questionnaires show better marks in patients that are in the second phase of treatment.

  5. Results of operative treatment of the pectus carinatum.

    PubMed

    Nowacki, Wiesław; Kruczyński, Jacek; Futyma, Jacek; Stencel, Piotr

    2008-01-01

    Evaluation of the efficiency of the operative treatment for pectus carinatum depending on the type of deformity. 65 subjects following surgical procedures due to pectus carinatum deformity between 1997 and 2003 were analyzed. Surgical correction of the deformity depended on the localization of the sternal protrusion, grade of asymmetry and severity of the deformity. Radiological severity index of the deformity (Haller's index-HI) and patients' subjective evaluation were collected to assess the grade of deformity and the results of treatment. Very good or good results were achieved after a mean period of 38 months of follow-up in all subjects who undergone surgical procedure. It was proven that stabilization of the osteotomy sternum site with a non-absorbable suture sufficiently enough protects against relapses of the malformation and hypercorrection.

  6. Lung Middle Lobe Laceration Needing Lobectomy as Complication of Nuss Bar Removal.

    PubMed

    Henry, Brice; Lacroix, Valérie; Pirotte, Thierry; Docquier, Pierre-Louis

    2018-01-01

    Minimally invasive procedure for the treatment of pectus excavatum as described by Nuss has been used from 1987. The bar initially introduced blindly is now introduced under thoracoscopic control to increase safety of the procedure. It is usually removed two to three years after its insertion in a one-day procedure. Complications of the bar removal are rare but potentially serious. We report the case of a serious complication which occurred immediately after the Nuss bar removal. A 15-year-old boy underwent a Nuss procedure for a severe pectus excavatum without relevant complication. The bar has been removed two years after its insertion in a minimally invasive procedure. Unfortunately, he developed in the immediate postoperative period a hemopneumothorax due to a right middle lobe laceration which required a middle lobectomy by thoracotomy for hemostasis. Lesions of intrathoracic organs are a rare but potentially serious complication of the removal of the Nuss bar. We now propose to perform this procedure under thoracoscopic control to avoid it. In our experience, adhesions between the bar and the pleura are always present, and those with potential risk for bleeding or inducing intrathoracic organ lesions are suppressed prior to the bar removal.

  7. Refinements in pectus carinatum correction: the pectoralis muscle split technique.

    PubMed

    Schwabegger, Anton H; Jeschke, Johannes; Schuetz, Tanja; Del Frari, Barbara

    2008-04-01

    The standard approach for correction of pectus carinatum deformity includes elevation of the pectoralis major and rectus abdominis muscle from the sternum and adjacent ribs. A postoperative restriction of shoulder activity for several weeks is necessary to allow stable healing of the elevated muscles. To reduce postoperative immobilization, we present a modified approach to the parasternal ribs using a pectoralis muscle split technique. At each level of rib cartilage resection, the pectoralis muscle is split along the direction of its fibers instead of elevating the entire muscle as performed with the standard technique. From July 2000 to May 2007, we successfully used this technique in 33 patients with pectus carinatum deformity. After the muscle split approach, patients returned to full unrestricted shoulder activity as early as 3 weeks postoperatively, compared to 6 weeks in patients treated with muscle flap elevation. Postoperative pain was reduced and the patients were discharged earlier from the hospital than following the conventional approach. The muscle split technique is a modified surgical approach to the parasternal ribs in patients with pectus carinatum deformity. It helps to maintain pectoralis muscle vascularization and function and can reduce postoperative pain, hospitalization, and rehabilitation period.

  8. Pain and sensory disturbances following surgical repair of pectus carinatum.

    PubMed

    Knudsen, Marie Veje; Pilegaard, Hans K; Grosen, Kasper

    2018-04-01

    The purpose of this study was to assess the characteristics of persistent postoperative pain and sensory disturbances following surgical repair of pectus carinatum. Using a prospective observational design, 28 patients were assessed before, 6 weeks and 6 months after a modified Ravitch operation for pectus carinatum. Postoperative pain was assessed using the Short Form McGill Pain Questionnaire. Sensory testing was conducted to detect brush-evoked allodynia and pinprick hyperalgesia. Additionally, generic and disease-specific quality of life was assessed using the Short Form-36 Health Survey and the Nuss Questionnaire Modified for Adults before and after surgery. Six weeks after surgery, ten patients reported mild pain or discomfort. Six months after surgery, four patients reported only mild pain. Allodynia was detected in two patients 6 weeks and 6 months after surgery. Hyperalgesia was detected in eight patients 6 weeks after surgery, and in six patients 6 months after surgery. Generic quality of life was significantly improved over time. The study showed no significant pain problems, a tendency to reduced sensory disturbances and significant improvements in quality of life 6 months after surgical repair of pectus carinatum. Future studies should include a longer follow-up period to determine if these positive results are persistent. 1 (Prognosis Study). Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Minimally invasive repair of pectus carinatum using a newly designed bar and stabilizer: a single-institution experience.

    PubMed

    Yüksel, Mustafa; Bostanci, Korkut; Evman, Serdar

    2011-08-01

    A modified technique of the Nuss procedure for the minimally invasive repair of pectus carinatum was defined by Abramson, and it has been gaining support for the last few years. We have been performing the Abramson procedure in our institutions since 2006. This article describes our recent experience with a novel instrument for pectus carinatum correction. In 2008, we developed a new pectus bar and stabilizing system for this procedure and started using it on our pectus carinatum patients. Between July 2008 and December 2009, 18 patients were operated on with these newly designed implants. Excellent esthetic results obtained regarding the postoperative course, verified with the patients' and parent's answers on a satisfaction questionnaire; all patients except one (94.4%) feeling satisfied with the operation. Two of the bars have been removed during the 18-month follow-up. Three fixating steel wire breakages requiring re-fixing of the stabilizers and two local skin adhesions over the bar were seen as postoperative complications. This article describes a novel instrument and surgical technique that is safely and easily used in minimally invasive correction of pectus carinatum deformities, with minimal complications and high satisfaction rates. Copyright © 2010 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All rights reserved.

  10. The etiology of pectus carinatum involves overgrowth of costal cartilage and undergrowth of ribs.

    PubMed

    Park, Chul Hwan; Kim, Tae Hoon; Haam, Seok Jin; Jeon, Inhwan; Lee, Sungsoo

    2014-08-01

    We compared the length of costal cartilage and rib between patients with symmetric pectus carinatum and controls without anterior chest wall protrusion, using a 3-dimensional (3D) computed tomography (CT) to evaluate whether the overgrowth of costal cartilage exists in patients with pectus carinatum. Twenty-six patients with symmetric pectus carinatum and matched twenty-six controls without chest wall protrusion were enrolled. We measured the full lengths of the 4th-6th ribs and costal cartilages using 3-D volume rendering CT images and the curved multiplanar reformatted (MPR) techniques. The lengths of ribs and costal cartilages, the summation of rib and costal cartilage lengths, and the costal index [length of cartilage/length of rib * 100 (%)] were compared between the patients group and the control group at 4th-6th levels. The lengths of costal cartilage in patient group were significantly longer than those of control group at 4th, 5th and 6th rib level. The lengths of ribs in patient group were significantly shorter than those of control group at 4th, 5th and 6th rib level. The summations of rib and costal cartilage lengths were not longer in patients group than in control group. The costal indices were significantly larger in patients group than in control groups at 4th, 5th and 6th rib level. In patients with symmetric pectus carinatum, the lengths of costal cartilage were longer but the lengths of rib were shorter than those of controls. These findings may supports that the overgrowth of costal cartilage was not the only factor responsible for pectus carinatum. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Minimally Invasive Repair of Pectus Carinatum in Patients Unsuited to Bracing Therapy.

    PubMed

    Suh, Jee-Won; Joo, Seok; Lee, Geun Dong; Haam, Seok Jin; Lee, Sungsoo

    2016-04-01

    We used an Abramson technique for minimally invasive repair of pectus carinatum in patients who preferred surgery to brace therapy, had been unsuccessfully treated via brace therapy, or were unsuitable for brace therapy because of a rigid chest wall. Between July 2011 and May 2015, 16 patients with pectus carinatum underwent minimally invasive surgery. The mean age of the patients was 24.35±13.20 years (range, 14-57 years), and all patients were male. The percentage of excellent aesthetic results, as rated by the patients, was 37.5%, and the percentage of good results was 56.25%. The preoperative and postoperative Haller Index values were 2.01±0.19 (range, 1.60-2.31), and 2.22±0.19 (range, 1.87-2.50), respectively (p-value=0.01), and the median hospital stay was 7.09±2.91 days (range, 5-15 days). Only one patient experienced postoperative complications. Minimally invasive repair is effective for the treatment of pectus carinatum, even in adult patients.

  12. Minimally Invasive Repair of Pectus Carinatum in Patients Unsuited to Bracing Therapy

    PubMed Central

    Suh, Jee-Won; Joo, Seok; Lee, Geun Dong; Haam, Seok Jin; Lee, Sungsoo

    2016-01-01

    Background We used an Abramson technique for minimally invasive repair of pectus carinatum in patients who preferred surgery to brace therapy, had been unsuccessfully treated via brace therapy, or were unsuitable for brace therapy because of a rigid chest wall. Methods Between July 2011 and May 2015, 16 patients with pectus carinatum underwent minimally invasive surgery. Results The mean age of the patients was 24.35±13.20 years (range, 14–57 years), and all patients were male. The percentage of excellent aesthetic results, as rated by the patients, was 37.5%, and the percentage of good results was 56.25%. The preoperative and postoperative Haller Index values were 2.01±0.19 (range, 1.60–2.31), and 2.22±0.19 (range, 1.87–2.50), respectively (p-value=0.01), and the median hospital stay was 7.09±2.91 days (range, 5–15 days). Only one patient experienced postoperative complications. Conclusion Minimally invasive repair is effective for the treatment of pectus carinatum, even in adult patients. PMID:27066432

  13. Preliminary study of efficacy of dynamic compression system in the correction of typical pectus carinatum.

    PubMed

    Lopez, Manuel; Patoir, Arnaud; Varlet, François; Perez-Etchepare, Eduardo; Tiffet, Théophile; Villard, Aurelien; Tiffet, Olivier

    2013-11-01

    This preliminary study evaluates, by qualitative score, the efficacy of the dynamic compression system (DCS) with a pressure-measuring device in the treatment of pectus carinatum (PC) as an alternative to surgery. A total of 68 patients (infants, adolescents and young adults) presenting with typical PC (64 males and 4 females) were evaluated in our Chest Wall Deformities Unit, between October 2011 and February 2013. The criteria for including subjects were: patients with typical condrogladiolar PC and pressure for initial correction (PIC) ≤ 9 PSI (pound square inch). Seven patients were excluded in this study: three typical PC were treated by minimal invasive surgery (Abramson technique) due to highly elevated PIC and four atypical PC, hybrids forms (PE and PC) were treated by cup suction for pectus excavatum and by the DCS for the PC. The management protocol included: adjustment of the DCS, strengthening exercises and monthly clinical follow-up. The partial and final results were evaluated by the patients, by their parents or by both, using a qualitative scoring scale that was measured in a three-step grading system, where C is a low or very low result, B is acceptable and A is a very good or excellent result. A total of 61 patients (59 males and 2 females) presenting with typical PC were treated by the DCS and included: symmetric PC in 43 cases and asymmetric PC in 18 cases. The mean age was 13.5 years (5-25). The mean PIC was 6.3 PSI (3-9 PSI). The mean utilization time was 19 h daily. The patients were divided into three groups. In Group I, consisting of 35 cases, all the patients have already completed the treatment with excellent aesthetic results (A). In 12 cases, Group II, the normal shape of the thorax has been obtained; all the patients in this group rated their results as excellent (A); however, these patients are still wearing the brace as a retainer for 3 additional months. Fourteen patients, Group III, are progressing and improving under active

  14. New minimally invasive technique for correction of pectus carinatum.

    PubMed

    Pérez, David; Cano, Jose Ramón; Quevedo, Santiago; López, Luis

    2011-02-01

    We describe a new video-assisted operative technique for correction of pectus carinatum (PC) using a modified Nuss procedure. A new design of the steel bar was developed, so that it could be introduced and placed in a suitable position through very small skin incisions. Substantial modifications were introduced in the bar length and shape aimed at facilitating insertion and subsequent removal when required. All the surgical manoeuvres took place under direct vision using a 30° thoracoscope. Single unilateral fixation of the bar in a subpectoral pocket provided satisfactory stabilisation without the need for lateral stabilisers. Adequate correction of the deformity was achieved with minor postoperative scars. Our results support the view that minimally invasive surgical repair should be preferred over open surgery for correction of pectus carinatum in young adults and children. Copyright © 2010 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All rights reserved.

  15. Dynamic compression system for the correction of pectus carinatum.

    PubMed

    Martinez-Ferro, Marcelo; Fraire, Carlos; Bernard, Silvia

    2008-08-01

    Between April 2001 and 2007, we treated 208 patients with pectus carinatum by using a specially designed dynamic compression system (DCS) that uses a custom-made aluminum brace. Recently, an electronic pressure measuring device was added to the brace. Results were evaluated by using a double-blinded subjective scale (1 to 10). A total of 208 patients were treated over 6 years; 154 were males (74%) and the mean age was 12.5 years (range 3 to 18 years). Mean utilization time was 7.2 hours daily for 7 months (range 3 to 20 months). A total of 28 (13.4%) patients abandoned treatment and were not evaluated for final results. Of the 180 remaining patients, 112 completed treatment. A total of 99 of 112 (88.4%) had good to excellent results scoring between 7 and 10 points, and 13 (11.6%) patients scored 1 to 6 points and were judged as poor or failed results. The "Pressure for Initial Correction" (PIC) in pounds per square inch (PSI) proved that starting treatment with less than 2.5 PSI avoids skin lesions. Patients who require pressures higher than 7.5 PSI should not be treated with this method. We found a good correlation between PIC versus treatment duration and outcome. DCS is an effective treatment for pectus carinatum with minimal morbidity. We suggest that patients with pectus carinatum have a trial of compression therapy before recommending surgical resection. The use of pressure measurement avoids complications such as skin lesions, partial or poor results, and patient noncompliance.

  16. Complications Related to Pectus Carinatum Correction: Lessons Learned from 15 Years' Experience. Management and Literature Review.

    PubMed

    Del Frari, Barbara; Sigl, Stephan; Schwabegger, Anton H

    2016-08-01

    Various methods of corrective thoracoplasty for pectus carinatum deformity have been described, but to date no studies describe a review of complications and how to manage them. Complications are dependent not only on the technique used and the patient's age, but also on the experience of the treating surgeon. The authors present their 15 years' experience with surgical correction of pectus carinatum and the complications that have occurred. A literature review regarding complications with pectus carinatum surgery is performed. A retrospective review of 95 patients (mean age, 19 years) was performed. One hundred four surgical procedures for repair of pectus carinatum were performed from July of 2000 to July of 2015 using a modified Ravitch technique, bioabsorbable material, postoperative bracing, and in some cases a diced rib cartilage graft technique. Intraoperative and postoperative complications were evaluated. The mean patient follow-up was 13.6 months (range, 4 months to 9.75 years). Intraoperative complications were pleura lesion and laceration of the internal mammary vein. Postoperative complications were recurrent mild protrusion, persistent protrusion of one or two costal cartilages, minor wound healing delay, skin ulcer, hypertrophic scar, transient intercostal dysesthesia, marginal pneumothorax, seroma, meningitis, and epidural hematoma. In our reported series of pectus carinatum repair, increasing experience and progressively less extensive techniques have resulted in fewer complications, low morbidity, and early return to activity. Complications were observed in the early period of application, predominantly because of a lack of experience, and usually subsided with increasing numbers of patients and frequency of surgery. Therapeutic, IV.

  17. Does overgrowth of costal cartilage cause pectus carinatum? A three-dimensional computed tomography evaluation of rib length and costal cartilage length in patients with asymmetric pectus carinatum

    PubMed Central

    Park, Chul Hwan; Kim, Tae Hoon; Haam, Seok Jin; Lee, Sungsoo

    2013-01-01

    OBJECTIVES To evaluate whether the overgrowth of costal cartilage may cause pectus carinatum using three-dimensional (3D) computed tomography (CT). METHODS Twenty-two patients with asymmetric pectus carinatum were included. The fourth, fifth and sixth ribs and costal cartilages were semi-automatically traced, and their full lengths were measured on three-dimensional CT images using curved multi-planar reformatted (MPR) techniques. The rib length and costal cartilage length, the total combined length of the rib and costal cartilage and the ratio of the cartilage and rib lengths (C/R ratio) in each patient were compared between the protruding side and the opposite side at the levels of the fourth, fifth and sixth ribs. RESULTS The length of the costal cartilage was not different between the more protruded side and the contralateral side (55.8 ± 9.8 mm vs 55.9 ± 9.3 mm at the fourth, 70 ± 10.8 mm vs 71.6 ± 10.8 mm at the fifth and 97.8 ± 13.2 mm vs 99.8 ± 15.5 mm at the sixth; P > 0.05). There were also no significant differences between the lengths of ribs. (265.8 ± 34.9 mm vs 266.3 ± 32.9 mm at the fourth, 279.7 ± 32.7 mm vs 280.6 ± 32.4 mm at the fifth and 283.8 ± 33.9 mm vs 283.9 ± 32.3 mm at the sixth; P > 0.05). There was no statistically significant difference in either the total length of rib and costal cartilage or the C/R ratio according to side of the chest (P > 0.05). CONCLUSIONS In patients with asymmetric pectus carinatum, the lengths of the fourth, fifth and sixth costal cartilage on the more protruded side were not different from those on the contralateral side. These findings suggest that overgrowth of costal cartilage cannot explain the asymmetric protrusion of anterior chest wall and may not be the main cause of pectus carinatum. PMID:23868604

  18. Does overgrowth of costal cartilage cause pectus carinatum? A three-dimensional computed tomography evaluation of rib length and costal cartilage length in patients with asymmetric pectus carinatum.

    PubMed

    Park, Chul Hwan; Kim, Tae Hoon; Haam, Seok Jin; Lee, Sungsoo

    2013-11-01

    To evaluate whether the overgrowth of costal cartilage may cause pectus carinatum using three-dimensional (3D) computed tomography (CT). Twenty-two patients with asymmetric pectus carinatum were included. The fourth, fifth and sixth ribs and costal cartilages were semi-automatically traced, and their full lengths were measured on three-dimensional CT images using curved multi-planar reformatted (MPR) techniques. The rib length and costal cartilage length, the total combined length of the rib and costal cartilage and the ratio of the cartilage and rib lengths (C/R ratio) in each patient were compared between the protruding side and the opposite side at the levels of the fourth, fifth and sixth ribs. The length of the costal cartilage was not different between the more protruded side and the contralateral side (55.8 ± 9.8 mm vs 55.9 ± 9.3 mm at the fourth, 70 ± 10.8 mm vs 71.6 ± 10.8 mm at the fifth and 97.8 ± 13.2 mm vs 99.8 ± 15.5 mm at the sixth; P > 0.05). There were also no significant differences between the lengths of ribs. (265.8 ± 34.9 mm vs 266.3 ± 32.9 mm at the fourth, 279.7 ± 32.7 mm vs 280.6 ± 32.4 mm at the fifth and 283.8 ± 33.9 mm vs 283.9 ± 32.3 mm at the sixth; P > 0.05). There was no statistically significant difference in either the total length of rib and costal cartilage or the C/R ratio according to side of the chest (P > 0.05). In patients with asymmetric pectus carinatum, the lengths of the fourth, fifth and sixth costal cartilage on the more protruded side were not different from those on the contralateral side. These findings suggest that overgrowth of costal cartilage cannot explain the asymmetric protrusion of anterior chest wall and may not be the main cause of pectus carinatum.

  19. Compressive orthotic bracing in the treatment of pectus carinatum: the use of radiographic markers to predict success.

    PubMed

    Stephenson, Jacob T; Du Bois, Jeffrey

    2008-10-01

    who successfully completed treatment, there was no significant difference in the Haller or asymmetry indices, but the average improvement in sternal rotation was 53.8%. Compressive orthotic bracing is a successful method of treatment of pectus carinatum. The associated sternal rotation can be significantly improved with appropriate bracing that results in a subjective improvement in the deformity. Asymmetry of chest diameter related to concomitant excavatum-type deformity is less likely to respond to bracing attempts. In this way, initial chest CT can be of value in treatment planning.

  20. Highly Efficient Conservative Treatment of Pectus Carinatum in Compliant Patients.

    PubMed

    Loff, Steffan; Sauter, Hartwig; Wirth, Thomas; Otte, Ralf

    2015-10-01

    Pectus carinatum is a thoracic deformity, which causes severe psychological problems for affected patients but almost no physical limitations. Invasive procedures are difficult to justify for this reason. We present a conservative therapy which leads to complete resolution in most cases when performed properly. Between January 2008 and December 2012, 69 patients from 4 to 17 years with pectus carinatum were treated with a custom-fitted brace. Patients were stratified in children, adolescents, and adults. Mean therapy time was 7 months. Mean time of daily brace wearing was 12 to 15 hours. The results were evaluated by pictures taken before and after the therapy and from a patient interview. Standardized lateral views revealed a mean correction angle of 10 degrees in the children's group and 5 degrees in the adolescent group. In the adolescent group, 82% of patients judged the result as "excellent" or "good." In this large group with 56 patients, those who reported the result "unchanged" had a mean daily brace wearing time of 8.73 hours, those who judged the result as "good" 14.53 hours, and those who judged the result as "excellent" 18.36 hours. Our results show that pectus carinatum is efficiently treated with a customized brace therapy within 7 to 12 months. Best correction can be achieved in children and young adolescents. Daily brace-wearing time should be above 14 hours, ideally 24 hours. Duration of the treatment should be around 1 year. Treatment results correlate directly with the cooperation of the patients. Georg Thieme Verlag KG Stuttgart · New York.

  1. Factors affecting patient compliance with compressive brace therapy for pectus carinatum.

    PubMed

    Kang, Du-Young; Jung, Junho; Chung, Sangho; Cho, Jinkyung; Lee, Sungsoo

    2014-12-01

    The aim of this study was to identify factors affecting patient compliance with brace therapy for pectus carinatum. Eighty-six pectus carinatum patients who started brace therapy from August 2008 to November 2011 were included in this study. Patients were divided into two groups: patients who wore the brace for ≥6 months (compliance group) or patients who wore the brace for <6 months (non-compliance group). Factors affecting patient compliance were assessed at the last day of follow-up with a multiple-choice questionnaire. The questionnaire comprised seven items: pain at compression site, skin problems on compression area, confidence in brace treatment, shame, discomfort, initial result of bracing treatment and total number of factors affecting patient compliance. Eighty-six patients completed the survey, including seven (8.1%) female patients and 79 (91.9%) male patients, with a mean age of 12.0 years at the time of treatment (range, 3-20 years). The initial result of the compression period (P <0.001) and total number of factors affecting patient compliance (P <0.05) were significant predictors of patient compliance. An initial successful result of the compression period may increase patient compliance during treatment for pectus carinatum. Additional efforts to decrease pain, skin problems, shame and discomfort, and to give confidence may be beneficial in increasing compliance with bracing treatment. © The Author 2014. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  2. [Compressive anterior thoracoplasty (modified Abramson's repair) for pectus carinatum repair].

    PubMed

    Álvarez Muñoz, V; Prado Valle, M A; López López, A J; Martínez Suárez, M A; Oviedo Gutiérrez, M; Montalvo Ávalos, C; Fernández García, L

    2014-04-15

    For anterior protruding chest wall deformities treatment, mainly pectus carinatum, pediatric surgeons have been managing either orthotic methods or open surgical repairs. Anterior compressive thoracoplasty (Abramson's technique) has widened the therapeutic options. We describe herein a modification of this technique in the first reported Europen series. From 2010 to 2012, a total of five patients (four male and one female) underwent a modified Abramson's technique to correct pectus carinatum or combined protrusion of the chest at our center. We report the operative technique used for these reconstructions. In all five cases, the operation was completed uneventfully and with excellent results either for the surgical team or the patients. Mean operative time was 190 minutes and hospitalization lasted for three to six days, at the time of analgesic drugs withdrawal. We consider the anterior compresive thorocoplasty (modified Abramson's technique) a safe and feasible method to correct protruding chest deformities, particularly in those patients with stiff chest or lack of compliance, in order to avoid the agressive open procedures.

  3. Force required for correcting the deformity of pectus carinatum and related multivariate analysis.

    PubMed

    Chen, Chenghao; Zeng, Qi; Li, Zhongzhi; Zhang, Na; Yu, Jie

    2017-12-24

    To measure the force required for correcting pectus carinatum to the desired position and investigate the correlations of the required force with patients' gender, age, deformity type, severity and body mass index (BMI). A total of 125 patients with pectus carinatum were enrolled in the study from August 2013 to August 2016. Their gender, age, deformity type, severity and BMI were recorded. A chest wall compressor was used to measure the force required for correcting the chest wall deformity. Multivariate linear regression was used for data analysis. Among the 125 patients, 112 were males and 13 were females. Their mean age was 13.7±1.5 years old, mean Haller index was 2.1±0.2, and mean BMI was 17.4±1.8 kg/m 2 . Multivariate linear regression analysis showed that the desirable force for correcting chest wall deformity was not correlated with gender and deformity type, but positively correlated with age and BMI and negatively correlated with Haller index. The desirable force measured for correcting chest wall deformities of patients with pectus carinatum positively correlates with age and BMI and negatively correlates with Haller index. The study provides valuable information for future improvement of implanted bar, bar fixation technique, and personalized surgery. Retrospective study. Level 3-4. Copyright © 2018. Published by Elsevier Inc.

  4. Surgical correction of pectus carinatum improves perceived body image, mental health and self-esteem.

    PubMed

    Knudsen, Marie Veje; Grosen, Kasper; Pilegaard, Hans K; Laustsen, Sussie

    2015-09-01

    The purpose of this study was to assess the effects of surgical correction of pectus carinatum on health-related quality of life and self-esteem. Between May 2012 and May 2013, a prospective observational single-center cohort study was conducted on consecutive patients undergoing surgical correction of pectus carinatum at our institution. Patients filled in questionnaires on health-related quality of life and self-esteem before and six months after surgery. Disease-specific health-related quality of life was improved by 33% (95% CI: 23; 44%) according to responses to the Nuss Questionnaire modified for Adults. The improvement for generic mental health-related quality of life was 7% (95% CI: 3; 12%) in responses to the Short Form-36 Questionnaire. The improvement in self-esteem was 9% (95% CI: 2; 17%) as assessed with the Rosenberg Self-Esteem Scale. A Single Step Questionnaire supported the improvements in health-related quality of life and self-esteem six months postsurgery. This study confirms positive effects of surgical correction of pectus carinatum on health-related quality of life and self-esteem. Patients were to a greater extent self-satisfied about chest appearance following surgery, indicating this to be a step in the right direction toward improved body image, mental health and self-esteem. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. [Thoracoplasty by pectus carinatum in children].

    PubMed

    Razumovskiĭ, A Iu; Alkhasov, A B; Rachkov, V E; Mitupov, Z B; Savchuk, M O

    2011-01-01

    91 children were operated on pectus carinatum. Patients were aged 9-15 years. Thoracoplasty by Ravich was performed in 32 children (the first group) and 59 patients were operated using the method of thoracoplasty, modified by the authors. The major features were: transverse skin incision not longer than 8 sm, mobilization of the skin, subcutaneous fat and pectoral muscles en block, bilateral subperichondral resection of the deformated ribs, resection of the most deformated part of the sternal body (up to 2.0-2.5 sm) and suturing the fragments end-to-end. The long-term follow-up results were studied in term from 6 months to 5 years. The comparative analysis of the results demonstrated obvious advantages of the author's method of thoracoplasty.

  6. [Breast asymmetry of the teenager and the young adult. Stability of the result in time. About 144 patients].

    PubMed

    Ellart, J; François, C; Calibre, C; Guerreschi, P; Duquennoy-Martinot, V

    2016-10-01

    Breast asymmetry is defined by a difference in breast shape and/or volume. The goal of this study was to assess the stability of the surgical results and to highlight predictive factors for deterioration in results. This retrospective and monocentric study included all patients presenting constitutional isolated asymmetry, Poland's syndrome, asymmetric tuberous breast or pectus excavatum treated between 1980 and 2015. The statistical analysis included 144 patients and contained two parts. The first analysis compared patients with or without breast implant. Results were significant only for symmetry of shape, with better outcomes without breast implant (P=0.0170). The second analysis compared the subgroups of patients with breast asymmetry, according to the etiology. Patients with tuberous breasts and constitutional isolated asymmetry have been compared. We found a significant difference only regarding the long-term results (P=0.0091). Patients with tuberous breasts had deteriorating in results over time. Patients with Poland's syndrome, compared to patients with constitutional isolated asymmetry, had significantly less good results for symmetry of volume, of shape, of areola, and for early results (P<0.025). Concerning patients with pectus excavatum, the early and long-term results and the stability were good for most patients. Better results have been obtained with similar surgical procedures on both sides. Predictive factors for instability of results were the use of unilateral breast implant, weight variations, pregnancies and breast-feeding, the use of hormonal treatments, ageing and tuberous malformation. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  7. Safe performance of spinal anesthesia in a critical patient with neurofibromatosis, pectus carinatum, and temporomandibular joint dysfunction: A case report.

    PubMed

    Zencirci, Beyazit

    2010-05-03

    Neurofibromatosis is a syndrome caused by the abnormal deposition of neural tissues of the nervous system, endocrine system, visceral structures, and skin. On the other hand, pectus carinatum and temporomandibular joint dysfunction are illnesses that adversly affect the respiratory system and cause additional problems in airway management. Fifty-eight-year-old Turkish male patient had neurofibromatosis, pectus carinatum and temporomandibular joint dysfunction. The case was due to be operated on with the diagnosis of incarcerated umbilical hernia. Spinal anesthesia was successfully performed and the duration of the surgery was 1 hour. No postoperative complications were observed and he was discharged from the hospital on the 3rd post-operative day. The anesthetic management of patients with neurofibromatosis requires attention to all possible abnormalities and associated disturbances. Furthermore, the presence of pectus carinatum and temporomandibular joint dysfunction also increase the potential risks. The operation was successfully completed with spinal anesthesia that was carefully applied upon taking the required measures and considering all pathologies that may accompany the case and complications that may occur.

  8. Safe performance of spinal anesthesia in a critical patient with neurofibromatosis, pectus carinatum, and temporomandibular joint dysfunction: A case report

    PubMed Central

    2010-01-01

    Background Neurofibromatosis is a syndrome caused by the abnormal deposition of neural tissues of the nervous system, endocrine system, visceral structures, and skin. On the other hand, pectus carinatum and temporomandibular joint dysfunction are illnesses that adversly affect the respiratory system and cause additional problems in airway management. Case Presentation Fifty-eight-year-old Turkish male patient had neurofibromatosis, pectus carinatum and temporomandibular joint dysfunction. The case was due to be operated on with the diagnosis of incarcerated umbilical hernia. Spinal anesthesia was successfully performed and the duration of the surgery was 1 hour. No postoperative complications were observed and he was discharged from the hospital on the 3rd post-operative day. Conclusion The anesthetic management of patients with neurofibromatosis requires attention to all possible abnormalities and associated disturbances. Furthermore, the presence of pectus carinatum and temporomandibular joint dysfunction also increase the potential risks. The operation was successfully completed with spinal anesthesia that was carefully applied upon taking the required measures and considering all pathologies that may accompany the case and complications that may occur. PMID:20438631

  9. A clinical decision-making model for repeat surgical treatment of pectus Bar displacement: distance measurement after nuss procedure.

    PubMed

    Sa, Young Jo; Lee, Jongho; Jeong, Jin Yong; Choi, Moonhee; Park, Soo Seog; Sim, Sung Bo; Jo, Keon Hyon

    2016-01-19

    Bar displacement is one of the most common and serious complications after the Nuss procedure. However, measurements of and factors affecting bar displacement have not been reported. The objectives of this study were to develop a decision model to guide surgeons considering repeat treatment and to estimate optimal cut-off values to determine whether reoperation to correct bar displacement is warranted. From July 2011 to August 2013, ninety bars were inserted in 61 patients who underwent Nuss procedures for pectus excavatum. Group A did not need surgical intervention and Group B required reoperation for bar displacement. Bar position was measured as the distance from the posterior superior end of the sternal body to the upper border of the metal bar on lateral chest radiographs. The bar displacement index (BDI) was calculated using D0 - Dx / D0 x 100 (D0: bar position the day after surgery; Dx: minimal or maximal distance of bar position on the following postoperative days). The optimal cut-off values of BDI warranting reoperation were assessed on the basis of ROC curve analysis. Of the 61 patients, 32 had single bars inserted whereas 29 had parallel bars inserted. There was a significant difference in age (14.0 ± 7.5 vs. 23.3 ± 12.0, p = 0.0062), preoperative Haller index (HI) (4.0 ± 1.1 vs. 5.0 ± 1.0, p = 0.033), and postoperative HI (2.7 ± 0.4 vs. 3.2 ± 0.5 p = 0.006) between the two groups. The optimal cut-off value of BDI was 8.7. We developed a BDI model for surgeons considering performing reoperation after Nuss procedure. The optimal cut-off value of BDI was 8.7. This model may help surgeons to decide objectively whether corrective surgery should be performed. The main factors affecting the relationship between bar displacement and reoperation were age and preoperative HI.

  10. Pectus carinatum--first ultrastructural findings of a potential metabolic lesion.

    PubMed

    Brochhausen, Christoph; Müller, Felix Karl P; Turial, Salmai; James Kirkpatrick, C

    2012-03-01

    The histological and ultrastructural findings of rib specimens after two re-interventions in the case of recurrence of pectus carinatum (PC) are presented in this report. A 15-year-old boy developed recurrences of mild PC after re-chondroplasties using the Ravitch technique. Histological study of the resected cartilage showed markedly degenerative changes of the sternocostal cartilage. For the first time, intracellular crystalline inclusions in some of the chondrocytes were found. These findings indicate metabolic changes as a possible pathogenetic parameter in PC.

  11. PECTUS CARINATUM: A NOVEL METHOD OF STERNAL FIXATION.

    PubMed

    Taha, Assad; Sfeir, Pierre; Al-Taki, Muhyeddine

    2016-01-01

    The traditional method for fixing the sternum during surgical repair of pectus carinatum is through the use of a stainless steel bar (Adkin’s strut). In this article we describe a new method of sternal fixation using nonabsorbable sutures which are placed in a transverse and crossed fashion anterior to the sternum. This method provides stable sternal fixation and spares the patient a second operation to remove the steel bar. The absence of metallic implants allows clearer view of the thoracic structures in future X-rays, CT scans and MRI, and is likely to be more acceptable to patients than the implantation of a metallic strut in their chest. In addition, it is less costly.

  12. Ten-year experience with the muscle split technique, bioabsorbable plates, and postoperative bracing for correction of pectus carinatum: the Innsbruck protocol.

    PubMed

    Del Frari, Barbara; Schwabegger, Anton H

    2011-06-01

    We reviewed further clinical experience with our approach for pectus carinatum repair: modified surgical approach of pectoralis muscle split technique, bioabsorbable plates with screws, and postoperative compressive brace. From April 2000 to February 2010, 55 patients underwent pectus carinatum repair at our department with modifications of conventional Ravitch repair. There were 14 female and 41 male patients, mean age of 19.3 years at the onset of treatment. Postoperative treatment involved fitting of a lightweight, patient-controlled chest brace. Average follow-up was 13.7 months. Patient satisfaction was excellent for 40 patients (72.7%) and good for the remaining 15 (27.3%); aesthetic appearance was excellent for 37 patients (67.3%) and good for the remaining 18 (32.7%). Postoperative evaluation was objective measurement with a thorax caliper and clinical examination. No major perioperative complications were observed. Postoperative complications were mild recurrence of deformity (n = 3) and persistent, mild, single costal cartilage protrusion (n = 2). No patient had palpable plates or screws, and there was no material breakdown. The combination of muscle split technique and absorbable osteosynthesis represents an alternative in pectus carinatum repair. The pectoralis muscle split technique allows early patient mobilization and rehabilitation. Bioabsorbable plates get completely absorbed, avoiding second operation, and chest brace provides postoperative immobilization of the anterior thoracic wall during healing and avoids development of hypertrophic scars. Our combined approach to the correction of pectus carinatum deformities yields predominantly excellent esthetic results, with low morbidity, low costs, and less invasiveness, leading to high patient satisfaction. Copyright © 2011 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  13. Finite element analysis of pectus carinatum surgical correction via a minimally invasive approach.

    PubMed

    Neves, Sara C; Pinho, A C M; Fonseca, Jaime C; Rodrigues, Nuno F; Henriques-Coelho, Tiago; Correia-Pinto, Jorge; Vilaça, João L

    2015-01-01

    Pectus carinatum (PC) is a chest deformity caused by a disproportionate growth of the costal cartilages compared to the bony thoracic skeleton, pulling the sternum towards, which leads to its protrusion. There has been a growing interest on using the 'reversed Nuss' technique as a minimally invasive procedure for PC surgical correction. A corrective bar is introduced between the skin and the thoracic cage and positioned on top of the sternum highest protrusion area for continuous pressure. Then, it is fixed to the ribs and kept implanted for about 2-3 years. The purpose of this work was to (a) assess the stresses distribution on the thoracic cage that arise from the procedure, and (b) investigate the impact of different positioning of the corrective bar along the sternum. The higher stresses were generated on the 4th, 5th and 6th ribs backend, supporting the hypothesis of pectus deformities correction-induced scoliosis. The different bar positioning originated different stresses on the ribs' backend. The bar position that led to lower stresses generated on the ribs backend was the one that also led to the smallest sternum displacement. However, this may be preferred, as the risk of induced scoliosis is lowered.

  14. Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis.

    PubMed

    Basinko, Audrey; Douet-Guilbert, Nathalie; Parent, Philippe; Blondin, Gilles; Mingam, M; Monot, Françoise; Morel, Frédéric; Le Bris, Marie-Josée; De Braekeleer, Marc

    2008-04-01

    This 15-month boy was expressed at the cytogenetic laboratory because of psychomotor development delay. He was tall and had plagiocephaly, micrognathia, high nasal bridge, anteverted nostrils and pectus excavatum. A 46,XY,del(4)(p16.1p16.3) karyotype was found using high-resolution R-banding technique. FISH studies using the LSI Wolf-Hirschhorn dual color 4p16.3 and the TelVysion 4p probes showed no deletion. Using BACs, the distal breakpoint was located in 4p16.3, between RP11-165K4 and RP11-717M10 and the proximal breakpoint in 4p15.33, between RP11-74M11 and RP11-1J7; therefore, approximately 7.96 Mb of the short arm were deleted. The maternal karyotype showed the same deletion, but in a mosaic status. Two distinct phenotypes have been recognized on the basis of the chromosomal bands involved in 4p deletion: the Wolf-Hirschhorn syndrome (WHS) and a proximal 4p deletion syndrome (4p15.2-p15.32). Our observation confirms that the basic WHS phenotype maps distally to this region. Copyright 2008 Wiley-Liss, Inc.

  15. Pulmonary Nontuberculous Mycobacterial Disease

    PubMed Central

    Kim, Richard D.; Greenberg, David E.; Ehrmantraut, Mary E.; Guide, Shireen V.; Ding, Li; Shea, Yvonne; Brown, Margaret R.; Chernick, Milica; Steagall, Wendy K.; Glasgow, Connie G.; Lin, JingPing; Jolley, Clara; Sorbara, Lynn; Raffeld, Mark; Hill, Suvimol; Avila, Nilo; Sachdev, Vandana; Barnhart, Lisa A.; Anderson, Victoria L.; Claypool, Reginald; Hilligoss, Dianne M.; Garofalo, Mary; Fitzgerald, Alan; Anaya-O'Brien, Sandra; Darnell, Dirk; DeCastro, Rosamma; Menning, Heather M.; Ricklefs, Stacy M.; Porcella, Stephen F.; Olivier, Kenneth N.; Moss, Joel; Holland, Steven M.

    2008-01-01

    Rationale: Pulmonary nontuberculous mycobacterial (PNTM) disease is increasing, but predisposing features have been elusive. Objectives: To prospectively determine the morphotype, immunophenotype, and cystic fibrosis transmembrane conductance regulator genotype in a large cohort with PNTM. Methods: We prospectively enrolled 63 patients with PNTM infection, each of whom had computerized tomography, echocardiogram, pulmonary function, and flow cytometry of peripheral blood. In vitro cytokine production in response to mitogen, LPS, and cytokines was performed. Anthropometric measurements were compared with National Health and Nutrition Examination Survey (NHANES) age- and ethnicity-matched female control subjects extracted from the NHANES 2001–2002 dataset. Measurements and Main Results: Patients were 59.9 (±9.8 yr [SD]) old, and 5.4 (±7.9 yr) from diagnosis to enrollment. Patients were 95% female, 91% white, and 68% lifetime nonsmokers. A total of 46 were infected with Mycobacterium avium complex, M. xenopi, or M. kansasii; 17 were infected with rapidly growing mycobacteria. Female patients were significantly taller (164.7 vs. 161.0 cm; P < 0.001) and thinner (body mass index, 21.1 vs. 28.2; P < 0.001) than matched NHANES control subjects, and thinner (body mass index, 21.1 vs. 26.8; P = 0.002) than patients with disseminated nontuberculous mycobacterial infection. A total of 51% of patients had scoliosis, 11% pectus excavatum, and 9% mitral valve prolapse, all significantly more than reference populations. Stimulated cytokine production was similar to that of healthy control subjects, including the IFN-γ/IL-12 pathway. CD4+, CD8+, B, and natural killer cell numbers were normal. A total of 36% of patients had mutations in the cystic fibrosis transmembrane conductance regulator gene. Conclusions: Patients with PNTM infection are taller and leaner than control subjects, with high rates of scoliosis, pectus excavatum, mitral valve prolapse, and cystic fibrosis

  16. Improvement in Existing Chest Wall Irregularities During Breast Reconstruction

    PubMed Central

    Huber, Katherine M.; Zimmerman, Amanda; Dayicioglu, Deniz

    2018-01-01

    Mastectomies for both cancer resection and risk reduction are becoming more common. Existing chest wall irregularities are found in these women presenting for breast reconstruction after mastectomy and can pose reconstructive challenges. Women who desired breast reconstruction after mastectomy were evaluated preoperatively for existing chest wall irregularities. Case reports were selected to highlight common irregularities and methods for improving cosmetic outcome concurrently with breast reconstruction procedures. Muscular anomalies, pectus excavatum, scoliosis, polythelia case reports are discussed. Relevant data from the literature are presented. Chest wall irregularities are occasionally encountered in women who request breast reconstruction. Correction of these deformities is possible and safe during breast reconstruction and can lead to improved cosmetic outcome and patient satisfaction. PMID:29318956

  17. Improvement in Existing Chest Wall Irregularities During Breast Reconstruction.

    PubMed

    Huber, Katherine M; Zimmerman, Amanda; Dayicioglu, Deniz

    2018-01-01

    Mastectomies for both cancer resection and risk reduction are becoming more common. Existing chest wall irregularities are found in these women presenting for breast reconstruction after mastectomy and can pose reconstructive challenges. Women who desired breast reconstruction after mastectomy were evaluated preoperatively for existing chest wall irregularities. Case reports were selected to highlight common irregularities and methods for improving cosmetic outcome concurrently with breast reconstruction procedures. Muscular anomalies, pectus excavatum, scoliosis, polythelia case reports are discussed. Relevant data from the literature are presented. Chest wall irregularities are occasionally encountered in women who request breast reconstruction. Correction of these deformities is possible and safe during breast reconstruction and can lead to improved cosmetic outcome and patient satisfaction.

  18. Straightened sternal wire causes iatrogenic pectus carinatum after cardiac surgery.

    PubMed

    Thompson, Jess L; Teodori, Michael F

    2013-03-01

    Pectus carinatum is a protrusion deformity of the anterior chest wall that is most likely caused by a disproportionate growth of the costal cartilages compared with the remainder of the thoracic skeleton. A young boy had previously undergone corrective congenital heart operation, after which a prominent sternal protrusion was noted. During the past year, the protrusion had greatly increased in size and had become recurrently infected. Chest X-ray showed that a sternal wire, the ends of which were pointing toward the skin, had straightened. Operative intervention included removal of the offending wire, draining a chronic abscess, and shaving the protruding sternum so that it conformed to the rest of the sternum.

  19. A 5-year experience with a minimally invasive technique for pectus carinatum repair.

    PubMed

    Abramson, Horacio; D'Agostino, José; Wuscovi, Sebastián

    2009-01-01

    This report describes a 5-year experience with a novel, minimally invasive surgical technique for treatment of pectus carinatum. From June 2002 to August 2007, 40 patients underwent operation to correct pectus carinatum by pressure applied through a curved steel bar that was placed subcutaneously anterior to the sternum, via lateral thoracic incisions. The bar is inserted through a polyvinyl chloride tube with the convexity facing posteriorly. The polyvinyl chloride tube is positioned presternally by trocar. Subperiosteal wires attach small fixation plates to the ribs laterally, and the convex bar is secured to the small fixation plates with screws applying manual pressure to the anterior chest wall until the desired configuration is achieved. The compressive elongated bar is attached to the fixation plate with screws. The average age was 14.3 years (range, 10-21 years), and 90% were male. Both symmetric and asymmetric protrusions were treated. Patients whose chest was not malleable, and whose sternum could not be brought to a desirable position with pressure from the operator's hand, were treated by the open or "Ravitch" technique. After 2 or more years, the bar, wires stitches, screws, and fixation plates were removed. Of 40 patients treated with this procedure, 20 have undergone bar removal with the following results: 10 excellent, 4 good, 4 fair, and 2 poor. Average blood loss was 15 mL. Average length of hospital stay was as follows: implant, 3.8 days; removal, 1.4 days. Patients returned to routine activity 14 days after repair. Average follow-up since primary repair is 2.49 years. In those who have had bar removal, it is 1.53 years. Complications were pneumothorax in 1 patient, treated with chest tub e suction; skin adherence in 8 cases; seroma in 6; wire breakage in 3; persistence of pain in 1; and infection in 1. Technical modifications (selecting younger patients, excluding patients with a stiff thoracic wall, submuscular insertion of the bar, stronger

  20. A Case of Successful Surgical Repair for Pectus Arcuatum Using Chondrosternoplasty

    PubMed Central

    Kim, Sang Yoon; Park, Samina; Kim, Eung Rae; Park, In Kyu; Kim, Young Tae; Kang, Chang Hyun

    2016-01-01

    Pectus arcuatum is a rare complex chest wall deformity. A 31-year-old female presented with a severely protruding upper sternum combined with a concave lower sternum. We planned a modified Ravitch-type operation. Through vertical mid-sternal incision, chondrectomies were performed from the second to fifth costal cartilages, saving the perichondrium. Horizontal osteotomy was performed in a wedge shape on the most protruding point, and followed by an additional partial osteotomy at the most concaved point. The harvested wedge-shape bone fragments were minced and re-implanted to the latter osteotomy site. The osteotomized sternum was fixed with multiple wirings. With chondrosternoplasty, a complex chest wall deformity can be corrected successfully. PMID:27298803

  1. A Case of Successful Surgical Repair for Pectus Arcuatum Using Chondrosternoplasty.

    PubMed

    Kim, Sang Yoon; Park, Samina; Kim, Eung Rae; Park, In Kyu; Kim, Young Tae; Kang, Chang Hyun

    2016-06-01

    Pectus arcuatum is a rare complex chest wall deformity. A 31-year-old female presented with a severely protruding upper sternum combined with a concave lower sternum. We planned a modified Ravitch-type operation. Through vertical mid-sternal incision, chondrectomies were performed from the second to fifth costal cartilages, saving the perichondrium. Horizontal osteotomy was performed in a wedge shape on the most protruding point, and followed by an additional partial osteotomy at the most concaved point. The harvested wedge-shape bone fragments were minced and re-implanted to the latter osteotomy site. The osteotomized sternum was fixed with multiple wirings. With chondrosternoplasty, a complex chest wall deformity can be corrected successfully.

  2. The Dynamic Compression Brace for Pectus Carinatum: Intermediate Results in 286 Patients.

    PubMed

    de Beer, Sjoerd A; Gritter, Martin; de Jong, Justin R; van Heurn, Ernst L W

    2017-06-01

    Dynamic brace compression is a novel treatment for patients with pectus carinatum. The dynamic compression system contains a device to measure the flexibility of the thoracic wall and regulate the pressure of the brace. Patients referred to our pediatric surgical center were screened for treatment with the dynamic compression brace. Patients with a pressure of initial correction (PIC) of 10.0 pounds per square inch or less were offered treatment with the brace. Patients with a PIC above 10.0 pounds per square inch were offered surgical correction. Between March 2013 and April 2016, 286 patients were treated with the brace; 260 were male (91%) and 26 were female (9%). Their mean age was 14 years (range, 4 to 21 years). Seventy-eight patients completed brace treatment; the mean treatment time was 14 months. Twenty-seven patients abandoned treatment because of lack of motivation, loss to follow-up, persistent protrusion of the sternal bone or flaring that required surgical correction, failure of treatment because of a bifid rib, fear of locking the brace, and delayed correction. One hundred eighty-one patients are still wearing the brace, either in the active or in the retainer phase. Patients with a high PIC also showed improvement when they were compliant. Adverse events were minor and included skin lesions (n = 4, 1%) and vasovagal reactions at the start of therapy (n = 3, 1%). These data show that brace therapy can be considered a valuable treatment option to correct pectus carinatum in patients with a flexible thorax. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  3. Evaluation of the treatment of pectus carinatum with compressive orthotic bracing using three dimensional body scans.

    PubMed

    Wong, Kaitlyn E; Gorton, George E; Tashjian, David B; Tirabassi, Michael V; Moriarty, Kevin P

    2014-06-01

    The purpose of this study is to measure the effectiveness of compressive orthotic brace therapy for the treatment of pectus carinatum using an adjusted Haller Index (HI) measurement calculated from 3D body scan (BS) images. Pediatric patients with pectus carinatum were treated with either compressive orthotic bracing or observation. An adjusted BS Haller index (HI) was calculated from serial 3D BS images obtained on all patients. Medical records were evaluated to determine treatment with bracing and brace compliance more than 12hours daily. Compliant patient measurements were compared to non-compliant and non-brace groups. Forty patients underwent compressive orthotic bracing, while ten were observed. Twenty-three patients were compliant with bracing, and seventeen patients were non-compliant. Compliant patients exhibited an 8.2% increase, non-compliant patients had a 1.5% increase, and non-brace patients exhibited a 2.5% increase in BS HI. The change in BS HI of compliant patients was significantly different compared to non-brace patients (p=0.004) and non-compliant patients (p<0.001). Three dimensional BS is an effective, radiation free, and objective means to evaluate patients treated with compressive orthotic bracing. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. Is the Abramson technique effective in pectus carinatum repair?

    PubMed

    Katrancioglu, Ozgur; Akkas, Yucel; Karadayi, Sule; Sahin, Ekber; Kaptanoğlu, Melih

    2018-01-01

    The minimally invasive pectus carinatum (PC) surgery described by Abramson has been performed in many centers. We have been using this technique since 2011. This article describes our experience with PC correction. Between 2011 and 2016, 32 patients at our institution underwent minimally invasive repair of a PC deformity. All patients presented with cosmetic complaints. The deformity involved the lower sternum (all had chondrogladiolar type PC), and three patients had asymmetrical deformities. All operations followed the principles defined by Abramson. Satisfactory esthetic results were achieved in our patients. The hospital stay averaged 5.3 days (range 4-7 days). The most common early complication was pneumothorax, and the most common late complication was wire suture breakage. The Abramson technique is an effective, minimally invasive procedure for PC with shorter operating and hospitalization times and low morbidity rates. Copyright © 2016. Published by Elsevier Taiwan.

  5. Nuss bar migrations: occurrence and classification.

    PubMed

    Binkovitz, Lauren E; Zendejas, Benjamin; Moir, Christopher R; Binkovitz, Larry A

    2016-12-01

    Pectus excavatum results from dorsal deviation of the sternum causing narrowing of the anterior-posterior diameter of the chest. It can result in significant cosmetic deformities and cardiopulmonary compromise if severe. The Nuss procedure is a minimally invasive technique that involves placing a thin horizontally oriented metal bar below the dorsal sternal apex for correction of the pectus deformity. To identify the frequency and types of Nuss bar migrations, to present a new categorization of bar migrations, and to present examples of true migrations and pseudomigrations. We retrospectively reviewed the electronic medical records and all pertinent radiologic studies of 311 pediatric patients who underwent a Nuss procedure. We evaluated the frequency and type of bar migrations. Bar migration was demonstrated in 23 of 311 patients (7%) and occurred within a mean period of 26 days after surgery. Bar migrations were subjectively defined as deviation of the bar from the position demonstrated on the immediate postoperative radiographs and categorized as superior, inferior, rotation, lateral or flipped using a new classification system. Sixteen of the 23 migrations required re-operation. Nuss bar migration can be diagnosed with careful evaluation of serial radiographs. Nuss bar migration has a wide variety of appearances and requires exclusion of pseudomigration resulting from changes in patient positioning between radiologic examinations.

  6. Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

    PubMed Central

    Fichera, Alessandro; De Luna, Vincenzo; Mancini, Federico; Caterini, Roberto

    2016-01-01

    Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affected by Marfan syndrome. Fifty-four patients (37%) underwent cardiac surgery and 11 of them received emergent surgery for acute aortic dissection. Ectopia lentis was found in 68 patients (47%) whereas myopia above 3D occurred in 46 patients (32%). Musculoskeletal anomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%), the associated “wrist and thumb sign” was present; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severe flatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications. PMID:28050285

  7. [Technique of complex mammary irradiation: Mono-isocentric 3D conformational radiotherapy and helical tomotherapy].

    PubMed

    Vandendorpe, B; Guilbert, P; Champagne, C; Antoni, T; Nguyen, T D; Gaillot-Petit, N; Servagi Vernat, S

    2017-12-01

    To evaluate the dosimetric contribution of helical tomotherapy for breast cancers compared with conformal radiotherapy in mono-isocentric technique. For 23 patients, the dosimetric results in mono-isocentric 3D conformational radiotherapy did not satisfy the constraints either of target volumes nor organs at risk. A prospective dosimetric comparison between mono-isocentric 3D conformational radiotherapy and helical tomotherapy was therefore carried out. The use of helical tomotherapy showed a benefit in these 23 patients, with either an improvement in the conformity index or homogeneity, but with an increase in low doses. Of the 23 patients, two had pectus excavatum, five had past thoracic irradiation and two required bilateral irradiation. The other 14 patients had a combination of morphology and/or indication of lymph node irradiation. For these patients, helical tomotherapy was therefore preferred to mono-isocentric 3D conformational radiotherapy. Tomotherapy appears to provide better homogeneity and tumour coverage. This technique of irradiation may be justified in the case of morphological situations such as pectus exavatum and in complex clinical situations. In other cases, conformal radiotherapy in mono-isocentric technique remains to be favoured. Copyright © 2017 Société française de radiothérapie oncologique (SFRO). Published by Elsevier SAS. All rights reserved.

  8. Routine use of chest radiographs in the post-operative management of pectus bar removal: necessity or futility.

    PubMed

    Poola, Ashwini Suresh; Rentea, Rebecca M; Weaver, Katrina L; St Peter, Shawn David

    2017-05-01

    While there is literature on techniques for pectus bar removal, there are limited reports on post-operative management. This can include obtaining a postoperative chest radiograph (CXR) despite the minimal risk of associated intra-thoracic complications. This is a review of our experience with bar removal and lack of routine post-operative CXR. A single institution retrospective chart review was performed from 2000 to 2015. Patients who underwent a pectus bar removal procedure were included. We assessed operative timing of bar placement and removal, procedure length, intra-operative and post-operative complications and post-operative CXR findings, specifically the rate of pneumothoraces. 450 patients were identified in this study. Median duration of bar placement prior to removal was 35 months (interquartile range 30 and 36 months). Sixtey-four patients obtained a post-operative CXR. Of these, only one (58%) film revealed a pneumothorax; this was not drained. A CXR was not obtained in 386 (86%) patients with no immediate or delayed complications from this practice. Median follow-up time for all patients was 11 months (interquartile range 7.5-17 months). The risk for a clinically relevant pneumothorax is minimal following bar removal. This suggests that not obtaining routine imaging following bar removal may be a safe practice.

  9. Non-surgical treatment of pectus carinatum with the FMF® Dynamic Compressor System

    PubMed Central

    Martinez-Ferro, Marcelo; Bellia Munzon, Gaston; Fraire, Carlos; Abdenur, Constanza; Chinni, Emilio; Strappa, Bruno

    2016-01-01

    Pectus carinatum is a chest wall deformity, sometimes associated with physical signs and symptoms, but always associated to significant psychological distress. Surgical correction used to be the only solution, and was therefore only indicated for the most severe cases. Non-surgical approaches have been developed and improved during the last 15–20 years. A paradigm shift occured when the medical community realized that, despite the wall deformity, the chest wall was not completely rigid, but flexible and capable of remodeling. Several bracing devices and protocols are available as of today. This article will focus specifically in the FMF® Dynamic Compressor System (DCS), which was developed in Argentina in 2001 and is currently used worldwide. PMID:29078485

  10. Non-surgical treatment of pectus carinatum with the FMF® Dynamic Compressor System.

    PubMed

    Martinez-Ferro, Marcelo; Bellia Munzon, Gaston; Fraire, Carlos; Abdenur, Constanza; Chinni, Emilio; Strappa, Bruno; Ardigo, Laura

    2016-01-01

    Pectus carinatum is a chest wall deformity, sometimes associated with physical signs and symptoms, but always associated to significant psychological distress. Surgical correction used to be the only solution, and was therefore only indicated for the most severe cases. Non-surgical approaches have been developed and improved during the last 15-20 years. A paradigm shift occured when the medical community realized that, despite the wall deformity, the chest wall was not completely rigid, but flexible and capable of remodeling. Several bracing devices and protocols are available as of today. This article will focus specifically in the FMF ® Dynamic Compressor System (DCS), which was developed in Argentina in 2001 and is currently used worldwide.

  11. Three-Dimensional Computed Tomography (3–D CT) for Evaluation and Management of Children with Complex Chest Wall Anomalies: Useful Information or Just Pretty Pictures?

    PubMed Central

    Calloway, E. Hollin; Chhotani, Ali N.; Lee, Yueh Z.; Phillips, J. Duncan

    2013-01-01

    Purpose Shaded Surface Display (SSD) technology, with 3-D CT reconstruction, has been reported in a few small series of patients with congenital or acquired chest wall deformities. SSD images are visually attractive and educational, but many institutions are hesitant to utilize these secondary to cost and image data storage concerns. This study was designed to assess the true value of SSD to the patient, family, and operating surgeon, in the evaluation and management of these children. Methods Following IRB approval, we performed a retrospective review of records of 82 patients with chest wall deformities, evaluated with SSD, from 2002 to 2009. SSD usefulness, when compared with routine 2-D CT, was graded on a strict numerical scale from 0 (added no value besides education for the patient/family) to 3 (critical for surgical planning and patient management). Results There were 56 males and 26 females. Median age was 15.3 years (range: 0.6–41.1). Deformities included 56 pectus excavatum, 19 pectus carinatum, and 8 other/mixed deformities. 6 patients also had acquired asphyxiating thoracic dystrophy (AATD). Eleven (13%) had previous chest wall reconstructive surgery. In 25 (30%) patients, SSD was useful or critical. Findings underappreciated on 2-D images included: sternal abnormalities (29), rib abnormalities (28), and heterotopic calcifications (7). SSD changed or influenced operation choice (4), clarified bone versus soft tissue (3), helped clarify AATD (3), and aided in rib graft evaluation (2). Point biserial correlation coefficient analysis (Rpb) displayed significance for SSD usefulness in patients with previous chest repair surgery (Rpb=0.48, p≤0.001), AATD (Rpb=0.34, p=0.001), pectus carinatum (Rpb=0.27, p=0.008), and females (Rpb=0.19, p=0.044). Conclusions Shaded Surface Display, when used to evaluate children and young adults with congenital or acquired chest wall deformities, provides useful or critical information for surgical planning and patient

  12. Bracing of pectus carinatum: A quantitative analysis.

    PubMed

    Bugajski, Tomasz; Murari, Kartikeya; Lopushinsky, Steven; Schneider, Marc; Ronsky, Janet

    2018-05-01

    Primary treatment of pectus carinatum (PC) is performed with an external brace that compresses the protrusion. Patients are 'prescribed' a brace tightening force. However, no visual guides exist to display this force magnitude. The purpose of this study was to determine the repeatability of patients in applying their prescribed force over time and to determine whether the protrusion stiffness influences the patient-applied forces and the protrusion correction rate. Twenty-one male participants (12-17years) with chondrogladiolar PC were recruited at the time of brace fitting. Participants were evaluated on three visits: fitting, one month postfitting, and two months postfitting. Differences between prescribed force and patient-applied force were evaluated. Relationships of patient-applied force and correction rate with protrusion stiffness were assessed. Majority of individuals followed for two months (75%) had a significantly different patient-applied force (p<0.05) from their prescribed force. Protrusion stiffness had a positive relationship with patient-applied force, but no relationship with correction rate. Patients did not follow their prescribed force. Magnitudes of these differences require further investigation to determine clinical significance. Patient-applied forces were influenced by protrusion stiffness, but correction rate was not. Other factors may influence these variables, such as patient compliance. Treatment Study - Level IV. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. Gorlin syndrome and bilateral ovarian fibroma

    PubMed Central

    Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

    2012-01-01

    INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

  14. A case of simultaneous bilateral spontaneous pneumothorax after the Nuss procedure.

    PubMed

    Matsuoka, Shunichiro; Miyazawa, Masahisa; Kashimoto, Kentaro; Kobayashi, Hiroaki; Mitsui, Fumihiko; Tsunoda, Hajime; Kunitomo, Kazuyoshi; Chisuwa, Hisanao; Haba, Yoshiaki

    2016-06-01

    We present a case of simultaneous bilateral spontaneous pneumothorax caused by a pleuro-pleural communication formed from Nuss procedure for pectus excavatum. A 17-year-old man with a history of Nuss operation complained chest pain and dyspnea. A chest roentgenogram demonstrated a tiny bilateral pneumothorax and two metallic bars inserted at the Nuss procedure. Computed tomography revealed furthermore a bulla in the apex of the left lung. The bilateral pneumothorax critically deteriorated after 4 days from onset and urgent bilateral chest drainages were performed. Nevertheless the drainages the full expansion of both lungs was not obtained and air leakage only from left side was continued. A video-assisted left bullectomy was performed 9 days after the tube insertion. The two bars penetrating anterior mediastinal pleura were thought to be a cause of the simultaneous bilateral spontaneous pneumothorax.

  15. Pectus carinatum treatment in Canada: current practices.

    PubMed

    Emil, Sherif; Laberge, Jean-Martin; Sigalet, David; Baird, Robert

    2012-05-01

    Multiple treatment options currently exist for the correction of pectus carinatum (PC). We performed a survey of Canadian pediatric surgeons to define current practices. All active members of Canadian Association of Paediatric Surgeons were surveyed online during winter 2011 through the Canadian Association of Paediatric Surgeons Web site. The survey assessed multiple facets of PC evaluation and treatment, with particular emphasis on the practice of bracing. Forty-five active members (85%) responded, of whom 32 (71%) currently treat PC. Fifty-three percent of practices are low volume (<5 patients annually). In terms of preferred or most used treatment modality, 69% of surgeons used bracing, 25% performed Ravitch repairs, 3% performed open minimal cartilage resections, and 3% performed reverse Nuss procedures. Of 23 surgeons (72%) who used bracing, 83% used it for most or the patients. Fifty-seven percent judged their bracing results as good or excellent, and 74% felt that most or all patients braced were satisfied; 80% and 88% agreed or strongly agreed that bracing was generally preferable to surgical repair and that bracing should be first line treatment, respectively. Bracing is the preferred treatment for PC by most Canadian pediatric surgeons, despite lack of prospective outcome data. This presents an opportunity for a multicenter prospective study. Copyright © 2012 Elsevier Inc. All rights reserved.

  16. Open repair of pectus carinatum

    PubMed Central

    Scarci, Marco; Bertolaccini, Luca; Panagiotopoulos, Nikolaos

    2016-01-01

    Pectus carinatum is a chest deformity characterized by a protrusion of the sternum and ribs (usually 3–7 ribs). The treatment of these patients varies in relation to age. In younger patients we prefer to use a custom-made brace, surgery is the elective treatment for older patients. The minimally-invasive technique (Abramson procedure) is used rarely and for mild defects, whereas open surgery is still preferred by many surgeons to repair major deformities. In our institution we use a modified Ravitch approach trough a vertical incision, which is performed on top of the most prominent part of the defect. The first step is the mobilisation of the pectoralis muscle to allow the exposure of the skeletal structure of the sternum and of the deformed costal cartilages. The second step is to perform multiple parasternal rib cartilage resections to shorten the overabundant length that causes the deformity, avoiding damaging the perichondrium. The third step consists of a wedge osteotomy at the level of the most prominent point of the sternum. The last step is the remodelling and the stabilization of the chest wall. The sternum stabilization is obtained through the placement of one titanium bar and with the filling of the space created at the osteotomy line with fragments of cartilages or with demineralized bone tissue. The perichondrial sheats of the ribs are sutured to the sternum with absorbable sutures. The postoperative pain management should be a priority in order to avoid further complications. In our institution we use a patient-controlled analgesia (PCA) with morphine on the day of the surgery. On the first postoperative day we remove the PCA and start an oral therapy with the combination of opioids and non-steroidal anti-inflammatory drugs. Early mobilisation is also a milestone in the postoperative management of these patients. PMID:29078478

  17. Open repair of pectus carinatum.

    PubMed

    Scarci, Marco; Bertolaccini, Luca; Panagiotopoulos, Nikolaos; Bedetti, Benedetta

    2016-01-01

    Pectus carinatum is a chest deformity characterized by a protrusion of the sternum and ribs (usually 3-7 ribs). The treatment of these patients varies in relation to age. In younger patients we prefer to use a custom-made brace, surgery is the elective treatment for older patients. The minimally-invasive technique (Abramson procedure) is used rarely and for mild defects, whereas open surgery is still preferred by many surgeons to repair major deformities. In our institution we use a modified Ravitch approach trough a vertical incision, which is performed on top of the most prominent part of the defect. The first step is the mobilisation of the pectoralis muscle to allow the exposure of the skeletal structure of the sternum and of the deformed costal cartilages. The second step is to perform multiple parasternal rib cartilage resections to shorten the overabundant length that causes the deformity, avoiding damaging the perichondrium. The third step consists of a wedge osteotomy at the level of the most prominent point of the sternum. The last step is the remodelling and the stabilization of the chest wall. The sternum stabilization is obtained through the placement of one titanium bar and with the filling of the space created at the osteotomy line with fragments of cartilages or with demineralized bone tissue. The perichondrial sheats of the ribs are sutured to the sternum with absorbable sutures. The postoperative pain management should be a priority in order to avoid further complications. In our institution we use a patient-controlled analgesia (PCA) with morphine on the day of the surgery. On the first postoperative day we remove the PCA and start an oral therapy with the combination of opioids and non-steroidal anti-inflammatory drugs. Early mobilisation is also a milestone in the postoperative management of these patients.

  18. New Berlin-Buch "reversed Nuss," endoscopic pectus carinatum repair using eight-hole stabilizers, submuscular CO2, and presternal Nuss bar compression: first results in 35 patients.

    PubMed

    Schaarschmidt, Klaus; Lempe-Sellin, Michael; Schlesinger, Frank; Jaeschke, Uwe; Polleichtner, Susanne

    2011-04-01

    Since 2001 we minimized access (2.9-4.7 cm) for universally applicable endoscopic hybrid carinatum technique with two transsternal Willital bars in 173 endoscopic hybrid (EH) patients with very satisfactory results. In 2008-2009, endoscopic Nuss bar compression with endoscopic repair of costal flaring applied a new eight-hole stabilizer, which allows the use in pectus carinatum (PC) beyond adolescence including redos and combined deformities. This prospective study of 35 "endoscopic Berlin-Buch reversed Nuss" repairs intends to establish indications for this improved technique. In February 2008 to February 2010, we used endoscopic Nuss bar compression by applying a bilateral new eight-hole stabilizer fixed to the bar without screws or wires, which allows unprecedented versatility and the use in pectus carinatum beyond adolescence. Thirty-five patients aged 17.05 ± 10.2 years (range: 11.3-33.1 years) were recorded prospectively and followed at 3 monthly intervals. We implanted a standard Nuss bar (11-14') into an endoscopically dissected submuscular presternal pocket correcting PC by sternal pressure. The bars were put under tension by traction via bilateral eight-hole stabilizers and three pericostal wire sutures on each side. Bars were removed after 2 years. All 35 "reversed Nuss" pectus carinatum repairs, including 2 redos after Ravitch, were successful, with no conversion. So far there was no local or general complication and no seroma or bar dislocation. Thirty-one patients judged their result as excellent and 4 as good. Although this is a very early experience, "reversed Nuss" is safe and effective and new technical improvements have expanded the range of applicability to older patients and suitable redos.

  19. Pectus carinatum: the effects of orthotic bracing on pulmonary function and gradual compression on patient compliance.

    PubMed

    Ateş, Oğuz; Karakuş, Osman Z; Hakgüder, Gülce; Olguner, Mustafa; Akgür, Feza M

    2013-09-01

    The treatment of pectus carinatum (PC) deformity has been considered to be operative. Some authors have shown that postoperative pulmonary function is worsened. They have suggested that compromised chest wall expansion secondary to surgery leads to compromised pulmonary function. Several authors have advocated an orthotic brace for the treatment of PC. Pulmonary functions after orthotic brace treatment have not been investigated. Between April 2006 and October 2012, 61 patients presented with PC. Orthotic braces allowing gradual compression were prepared according to the anthropometric measurements of individual patients. The brace belt was tightened gradually. The brace was worn 6 h a day during the first week and the bracing time was prolonged for an additional hour per week till 16 h per day has been reached. Pre- and post-treatment echocardiography, pulmonary function tests and thorax computed tomography (CT) were obtained. The pectus severity index (Haller index) and the angle of sternal rotation were measured using CT. Satisfaction from bracing was evaluated by parents or patients at the end of the treatment. While the mean pretreatment Haller index was 1.96 ± 0.24, the mean post-treatment index was 2.26 ± 0.32. The angle of rotation was improved by 47.5%. Forced vital capacity and forced expiratory volume in 1 second were correlated with the predicted values for age. There was no statistically significant difference between pre- and post-treatment values. No skin breakdown or bruising was encountered. The overall average satisfaction score was 3.92 ± 0.27. We conclude that pulmonary function tests are not affected after brace treatment and gradual progression of bracing increases the patient's compliance.

  20. Bracing is an effective therapy for pectus carinatum: interim results.

    PubMed

    Lee, Richy T; Moorman, Scott; Schneider, Marc; Sigalet, David L

    2013-01-01

    Pectus Carinatum is a common congenital chest wall malformation. Until recently the mainstay of treatment was surgical remodeling of the deformed chest wall. Initial results suggest that non-operative bracing may be an effective therapy, but the optimal strategy for correction is not known. Herein we report the results of a self-adjustable low profile bracing system worn continuously until the defect is corrected (correction phase), then worn at night (8 h/day) until completion of axial growth (maintenance phase)-the Calgary Protocol. Patients referred to a pediatric surgery chest wall clinic were prospectively asked to join an IRB approved outcomes monitoring study. 124 patients were evaluated from 2007 to 2011, and 98 were prescribed a brace and counseled to follow the protocol. 98 patients consented to follow-up at starting bracing age: 14.4 ± 1.9 years, Tanner stage: 3.6 ± 0.5, protrusion: 2.1 ± 1.0 cm, self-rating of appearance: 2.9 ± 1.1, and exercise tolerance: 4.4 ± 1.1 (1-5 with 5 = normal). 10 patients are in correction phase, and 44 patients have completed correction after 7.0 ± 7.3 months: Tanner stage: 3.8 ± 0.1, protrusion: 0.5 ± 0.6 cm*, appearance: 4.3 ± 0.3* and exercise tolerance 4.6 ± 1.0. Correction occurred more quickly in patients prior to achieving Tanner stage IV (4.2 ± 0.9 months) vs. Tanner stage IV (8.0 ± 7.1 months) at the beginning of bracing. 21 patients completed maintenance bracing after 17.9 ± 19.0 months: Tanner stage: 3.9 ± 0.2, protrusion 0.5 ± 0.7 cm*, appearance: 4.3 ± 0.9*, and exercise tolerance: 4.8 ± 1.4. Average follow-up after bracing is 13.9 ± 16.0 months (mean ± S.D., *P < .05). There was one recurrence, likely due to early discontinuation of maintenance. This responded to an additional 6 months of bracing. 42 patients failed therapy secondary to non-compliance or were lost in follow up, while 2 patients did not respond to bracing and required open operation. If patients are compliant, a self

  1. Gorlin syndrome and bilateral ovarian fibroma.

    PubMed

    Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

    2012-01-01

    Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. Gorlin-Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. Copyright © 2012 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

  2. Ultrasound-Guided Bar Edge Labeling in the Perioperative Assessment of Nuss Bar Removal.

    PubMed

    Incerti, Filippo; Bertocchini, Alessia; Ghionzoli, Marco; Messineo, Antonio

    2017-12-01

    Nuss bar removal after minimally invasive repair of pectus excavatum in patients where bar ends are not palpable, can be a challenging procedure for the surgeon; a blind dissection toward the bar edges may lead to intercostal vessels or deep intercostal muscle injuries. In this article, we describe a fast, repeatable, low-cost technique to detect bar edge and stabilizers. A perioperative scan is performed by means of a portable ultrasonograph a few minutes before the operation. The bar edge stabilizer is detected as a hyperechogenic image with a concentric crescent while the bar edge is detected as a hyperechogenic dashed line with net edges. The scan is performed, and the actual projection on the skin of the metal plaque bulk is then labeled on the patient's chest by an ink marker. We believe that this method may improve morbidity, operative time, and consequently, hospitalization length and costs.

  3. Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy.

    PubMed

    Sahin, Cem; Ozseker, Burak; Rencuzogullari, Ibrahim; Zeybek, Arife

    2014-01-22

    The Plummer-Vinson syndrome is a clinical syndrome characterised by dysphagia, web or webs in upper oesophagus and iron-deficiency anaemia. The syndrome is often seen in women of age 40-70 years and rarely in adolescents. Plummer-Vinson syndrome might be associated with malignancy, myeloproliferative disorder and autoimmune diseases including coeliac disease, rheumatoid arthritis and Sjögren syndrome. However, according to our literature search, there are no reports of such case associated with thorax deformity, cardiac pathology and ocular findings. We present a case of an 18-year-old boy with a rare presentation of this syndrome including pectus carinatum, exotropia and mitral valve prolapsus.

  4. Plummer-Vinson syndrome with pectus carinatum mitral valve prolapsus and exotropia in an 18-year-old boy

    PubMed Central

    Sahin, Cem; Ozseker, Burak; Rencuzogullari, Ibrahim; Zeybek, Arife

    2014-01-01

    The Plummer-Vinson syndrome is a clinical syndrome characterised by dysphagia, web or webs in upper oesophagus and iron-deficiency anaemia. The syndrome is often seen in women of age 40–70 years and rarely in adolescents. Plummer-Vinson syndrome might be associated with malignancy, myeloproliferative disorder and autoimmune diseases including coeliac disease, rheumatoid arthritis and Sjögren syndrome. However, according to our literature search, there are no reports of such case associated with thorax deformity, cardiac pathology and ocular findings. We present a case of an 18-year-old boy with a rare presentation of this syndrome including pectus carinatum, exotropia and mitral valve prolapsus. PMID:24451233

  5. A less intensive bracing protocol for pectus carinatum.

    PubMed

    Wahba, George; Nasr, Ahmed; Bettolli, Marcos

    2017-11-01

    Despite the widespread use of bracing to correct Pectus carinatum (PC) there is no consensus in the number of hours per day patients are instructed to wear the brace. In our practice, we use a less rigorous protocol of 8-12h/day. We sought to evaluate our results and those in the literature to determine whether more intensive usage is necessary. We reviewed the outcomes of patients with PC treated at our institution between 2012 and 2015. We searched MEDLINE, EMBASE and Web of Science for studies describing the use of bracing to correct PC. Seventy-five patients presented with PC at our institution. Among those who were offered bracing and had adequate follow-up (n=32), the success rate (full correction or improvement) was 90.6%. The compliance rate was 93.8%. Fifteen studies met our inclusion criteria. Our pooled data combining our results with those of other published data showed that less intensive brace usage (<12h/day), when compared to more intensive usage (≥12h/day), is associated with higher patient compliance (89.6% vs. 81.1%) with a similar time to correction (7.3 vs 7.1months) and success rate (85.3% vs. 83.5%). Implementing a less intensive bracing protocol for PC is successful, efficient and improves compliance. Clinical Research. Oxford Centre for Evidence-Based Medicine Level-of-Evidence rating: Level IV. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life.

    PubMed

    Zuidema, W P; Oosterhuis, J W A; Zijp, G W; van der Heide, S M; van der Steeg, A F W; van Heurn, L W E

    2018-02-06

    An early observation after chest wall correction is direct inspection from the PE patient of their "new" thorax. Changes in self-perception may give raise to other psychological adaptations. The aim of this study was to evaluate the early changes in the fields of self-esteem, body image and QoL. Prospective observational longitudinal multicenter cohort study. Self-esteem, emotional limitations and general health were assessed using the Child Health Questionnaire (CHQ) in patients under 18 and the World Health Organization Quality of Life Questionnaire-bref (WHOQOL-bref) was used for body image, psychological domain and overall QoL in patients over 16 years of age. Measurements were taken before surgery (T1) and 6 weeks (T2), and 6 months thereafter (T3). Scores on post-operative self-esteem were significantly higher compared with scores pre-operatively (p < 0.007). Also body image, psychological domain and emotional limitations showed significant improvement, respectively p < 0.001, p < 0.001, and p < 0.016. Significant improvement in the first three components was mainly achieved in the first 6 weeks post-operative. In emotional limitation, however, the largest change was between 6 weeks and 6 months. Overall quality of life in the WHOQOL-bref and general health domain in the CHQ showed no significant improvement in relation to the pre-operative scores. Post-operative PE patients after Nuss procedure showed an improved body image, increased self-esteem and increased psychological resilience in the first 6 months, with the most marked change in the first 6 weeks. Also emotional limitations changed significantly over time. The changes were not large enough to influence general QoL or general health significantly.

  7. Multiple coagulation defects and the Cohen syndrome.

    PubMed

    Schlichtemeier, T L; Tomlinson, G E; Kamen, B A; Waber, L J; Wilson, G N

    1994-04-01

    A 13-year-old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17-year-old sister had a mental retardation-multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue. Their dysmorphology included elongated faces with narrow forehead, arched eyebrows, large mouth with down-turned corners, malformed teeth, and furrowed tongue. Both had Marfanoid habitus with lax joints, pectus excavatum, kyphoscoliosis, and flat narrow feet. The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors. The sagittal sinus thrombosis, left frontal intracranial hemorrhage, carotid aneurysm, tortuous descending aorta, and deep venous thrombosis suffered by the male sibling adds the Cohen syndrome to genetic vasculopathies that may be associated with stroke.

  8. Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction

    PubMed Central

    Nishihara, Hideaki; Omoto, Masatoshi; Takao, Masaki; Higuchi, Yujiro; Koga, Michiaki; Kawai, Motoharu; Kawano, Hiroo; Ikeda, Eiji; Takashima, Hiroshi

    2017-01-01

    Objective: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. Methods: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. Results: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60. Pectus excavatum, long fingers and toes, and pes cavus were revealed by physical examination. Her IQ score was 44. Neurologic examination revealed ophthalmoplegia, optic atrophy, dysphagia, distal dominant muscle weakness and atrophy, hyperreflexia at patellar tendon reflex, hyporeflexia at Achilles tendon reflex, and extensor plantar reflexes. At age 60, she died of pneumonia. Lactate levels were elevated in the patient's serum and CSF. T2-weighted brain MRI showed symmetrical hyperintense brainstem lesions. At autopsy, axial sections exposed symmetrical cyst formation with brownish lesions in the upper spinal cord, ventral medulla, pons, dorsal midbrain, and medial hypothalamus. Microscopic analysis of these areas demonstrated mild gliosis with rarefaction. Cell bodies in the choroid plexuses were eosinophilic and swollen. Electron microscopic examination revealed that these cells contained numerous abnormal mitochondria. Whole-exome sequencing revealed the 2-base deletion in C12orf65. Conclusions: We report an autopsy case of the C12orf65 mutation, and findings suggest that mitochondrial dysfunction may underlie the unique clinical presentations. PMID:28804760

  9. Gorlin-Goltz syndrome in a child: case report and clinical review.

    PubMed

    Snoeckx, A; Vanhoenacker, F M; Verhaert, K; Chappelle, K; Parizel, P M

    2008-01-01

    Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report the case of a mild mentally retarded 7-year-old boy who was referred with a swelling of his left mandible. Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs. The mandibular lesion was treated with surgical decompression and proved to represent a keratocyst on histological examination. Further clinical examination revealed cutaneous lesions, Sprengel deformity, pectus excavatum and facial dysmorphism. Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made. This was confirmed by genetic tests. During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts. The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome. This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.

  10. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

    PubMed

    Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W

    2003-05-15

    We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa. Copyright 2003 Wiley-Liss, Inc.

  11. Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

    PubMed

    Konstantinidou, Anastasia E; Tasoulas, Jason; Kallipolitis, Georgios; Gasparatos, Spyros; Velissariou, Voula; Paraskevakou, Helen

    2013-12-01

    Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination. We describe the ultrasonographic, autopsy, and molecular findings in a 25-week-gestation affected fetus, and review the clinical, prenatal, and postmortem findings in 15 previously reported fetal and perinatal cases. A nearly complete spectrum of the typical facial characteristics can be present by the early second trimester of gestation, including subtle defects such as lower eyelid colobomas. Mandibular hypoplasia and bilateral auricle defects were constant findings in the affected fetal population. Downslanting palpebral fissures were the second more common feature, followed by midface hypoplasia, polyhydramnios, and ocular defects. Association with Pierre Robin sequence was common (38%) in the reviewed series. Previously unreported pectus carinatum was noted in our case bearing a heterozygous TCOF1 mutation. Other unique reported findings include salivary gland hyperplasia, single umbilical artery, and tracheo-esophageal fistula, all in molecularly unconfirmed cases. Treacher Collins syndrome can be prenatally detected by ultrasound and should be included in the wide range of genetic syndromes that can be diagnosed at perinatal autopsy. Affected fetuses tend to have a more severe phenotype than living patients. The reported association of Treacher Collins syndrome type 1 with pectus carinatum expands the phenotype, provides information on genotype-phenotype correlation, and suggests possible pathogenetic interactions between neural crest cell disorders and the formation of the sternum that merit investigation. Copyright © 2013 Wiley Periodicals, Inc.

  12. Anaesthetic Management of Laparoscopic Morgagni Hernia Repair in a Patient with Coexisting Down Syndrome, Patent Foramen Ovale and Pectus Carinatum.

    PubMed

    Kozanhan, Betül; Başaran, Betül; Aygın, Feride; Akkoyun, İbrahim; Özmen, Sadık

    2016-02-01

    Laparoscopic repair has several advantages with a minimally invasive surgical option for children with Morgagni hernias; however, a number of physiological sequelae results from pneumoperitoneum and insufflation. These physiological changes may be more significant in patients with a congenital heart disease. Perioperative detailed evaluation, meticulous monitorization and cooperation with a surgical team are important in cases with patent foramen ovale for the possible risk of the paradoxical gas embolism. We present the anaesthetic management of a patient with patent foramen ovale, Down syndrome and pectus carinatus who successfully underwent laparoscopic Morgagni hernia repair. Under a well-managed anaesthesia that prevented complications because of pneumoperitoneum, laparoscopic surgery would be safe enough for patients with Morgagni hernia having an associated congenital heart disease.

  13. Anti-Inflammatory and Analgesic Effects of the Marine-Derived Compound Excavatolide B Isolated from the Culture-Type Formosan Gorgonian Briareum excavatum

    PubMed Central

    Lin, Yen-You; Lin, Sung-Chun; Feng, Chien-Wei; Chen, Pei-Chin; Su, Yin-Di; Li, Chi-Min; Yang, San-Nan; Jean, Yen-Hsuan; Sung, Ping-Jyun; Duh, Chang-Yih; Wen, Zhi-Hong

    2015-01-01

    In recent years, several marine-derived compounds have been clinically evaluated. Diterpenes are secondary metabolites from soft coral that exhibit anti-inflammatory, anti-tumor and cytotoxic activities. In the present study, we isolated a natural diterpene product, excavatolide B, from cultured Formosan gorgonian Briareum excavatum and investigated its anti-inflammatory activities. We found that excavatolide B significantly inhibited the mRNA expression of the proinflammatory mediators, inducible nitric oxide synthase (iNOS) and cyclooxygenase-2 (COX-2), in lipopolysaccharide (LPS)-challenged murine macrophages (RAW 264.7). We also examined the anti-inflammatory and anti-nociceptive effects of excavatolide B on intraplantar carrageenan-induced inflammatory responses. Excavatolide B was found to significantly attenuate carrageenan-induced nociceptive behaviors, mechanical allodynia, thermal hyperalgesia, weight bearing deficits and paw edema. In addition, excavatolide B inhibited iNOS, as well as the infiltration of immune cells in carrageenan-induced inflammatory paw tissue. PMID:25923315

  14. Pectus Carinatum Evaluation Questionnaire (PCEQ): a novel tool to improve the follow-up in patients treated with brace compression.

    PubMed

    Pessanha, Inês; Severo, Milton; Correia-Pinto, Jorge; Estevão-Costa, José; Henriques-Coelho, Tiago

    2016-03-01

    A questionnaire (Pectus Carinatum Evaluation Questionnaire, PCEQ) was developed to be applied in follow-up of patients with Pectus Carinatum (PC). After validation of the PCEQ, we aimed to quantify the compliance to brace compression and to assess factors that could influence this treatment in patients with PC. From July 2008 to July 2014, 56 patients with PC were treated with the Calgary Protocol of compressive bracing at Paediatric Surgery Department of Hospital São João. Forty patients (71%) completed the questionnaire. The PCEQ was divided into four sections: (i) compliance; (ii) symptoms; (iii) social influence; (iv) activities. For the validation process of the PCEQ, principal components analysis (PCA), orthogonal varimax or oblimin rotation and Cronbach's α coefficient were used. To evaluate the association between compliance and other sections of the questionnaire, we estimated the Pearson's correlation between compliance factor scores ('Compliance Days' and 'Compliance Hours') and the final score of each new questionnaire component identified by PCA ('Chest Pain', 'Dyspnoea', 'Back Pain', 'Parents' Influence', 'Friends' Influence', 'Activities', 'Time To Compliance'). For the sections 'Symptoms', 'Social Influence' and 'Activities', we estimated final scores as the sum of the questions that constitute each component. For the section 'Compliance', the factor scores were estimated by the regression method. After PCA analysis, the PCEQ found nine different components with high reliability. When analysing the compliance of our study group, the final score for 'Activities' revealed a significant correlation with the factor score for 'Compliance Hours' (r = 0.382, P = 0.015). The final score for 'Time To Compliance' showed a significant correlation with both factor scores for 'Compliance Hours' (r = -0.765, P < 0.001) and 'Compliance Days' (r = -0.345, P < 0.029). The PCEQ seems to be an important tool to follow up patients with PC treated by brace

  15. Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

    PubMed

    Manjila, Sunil; Miller, Benjamin R; Rao-Frisch, Anitha; Otvos, Balint; Mitchell, Anna; Bambakidis, Nicholas C; De Georgia, Michael A

    2014-01-01

    Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  16. Sub-axillary access with the use of costal cartilages articulated bars for correction of pectus carinatum

    PubMed Central

    Andreetti, Claudio; D'Andrilli, Antonio; Venuta, Federico; Rendina, Erino Angelo

    2013-01-01

    We describe an original technique for correction of pectus carinatum (PC) through a limited sub-axillary incision by chondrectomy and the use of costal cartilages articulated bars to stabilize the chest wall. We have developed this technique in order to improve the cosmetic results in the surgical treatment of even complex sterno-chondral deformities. The surgical incision is made along the lateral edge of the pectoralis major muscle in the sub-axillary region and its length is related to the number of costal cartilages to be treated. This technique is principally indicated for asymmetric PC with unilateral deformities of the costal cartilages, but its application can be extended to bilateral alteration of the parasternal cartilages by performing the sub-axillary incision bilaterally. When more than four cartilages are removed, the chest is stabilized by articulated bars made using cylindrical fragments obtained by the division of the removed costal cartilages. This thoracoplasty technique performed with a minimally invasive sub-axillary access is simple and safe. It allows the effective treatment of severe PC with either unilateral asymmetric or bilateral costal cartilages deformities, avoiding the median sternal incision and the use of the metallic bar. PMID:23111343

  17. Sub-axillary access with the use of costal cartilages articulated bars for correction of pectus carinatum.

    PubMed

    Andreetti, Claudio; D'Andrilli, Antonio; Venuta, Federico; Rendina, Erino Angelo

    2013-02-01

    We describe an original technique for correction of pectus carinatum (PC) through a limited sub-axillary incision by chondrectomy and the use of costal cartilages articulated bars to stabilize the chest wall. We have developed this technique in order to improve the cosmetic results in the surgical treatment of even complex sterno-chondral deformities. The surgical incision is made along the lateral edge of the pectoralis major muscle in the sub-axillary region and its length is related to the number of costal cartilages to be treated. This technique is principally indicated for asymmetric PC with unilateral deformities of the costal cartilages, but its application can be extended to bilateral alteration of the parasternal cartilages by performing the sub-axillary incision bilaterally. When more than four cartilages are removed, the chest is stabilized by articulated bars made using cylindrical fragments obtained by the division of the removed costal cartilages. This thoracoplasty technique performed with a minimally invasive sub-axillary access is simple and safe. It allows the effective treatment of severe PC with either unilateral asymmetric or bilateral costal cartilages deformities, avoiding the median sternal incision and the use of the metallic bar.

  18. Success and duration of dynamic bracing for pectus carinatum: A four-year prospective study.

    PubMed

    Emil, Sherif; Sévigny, Marika; Montpetit, Kathleen; Baird, Robert; Laberge, Jean-Martin; Goyette, Jade; Finlay, Ian; Courchesne, Guylaine

    2017-01-01

    This study sought to establish factors that can prognosticate outcomes of bracing for pectus carinatum (PC). Prospective data were collected on all patients enrolled in a dynamic bracing protocol from July 2011 to July 2015. Pressure of correction (POC) was measured at initiation of treatment, and pressure of treatment (POT) was measured pre- and post-adjustment at every follow-up visit. Univariate and Cox regression analysis tested the following possible determinants of success and bracing duration: age, sex, symmetry, POC, and POT drop during the first two follow-up visits. Of 114 patients, 64 (56%) succeeded, 33 (29%) were still in active bracing, and 17 (15%) failed or were lost to follow-up. In successful patients, active and maintenance bracing was 5.66±3.81 and 8.80±3.94months, respectively. Asymmetry and older age were significantly associated with failure. Multivariable Cox proportional hazard analysis of time-to-maintenance showed that asymmetry (p=0.01) and smaller first drop in POT (p=0.02) were associated with longer time to reach maintenance. Pressure of correction does not predict failure of bracing, but older age, asymmetry, and smaller first drop in pressure of treatment are associated with failure and longer bracing duration. Prospective Study/Level of Evidence IV. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Sparing internal thoracic vessels in thoracoscopic or submuscular correction of pectus carinatum: A porcine model study.

    PubMed

    Lamas-Pinheiro, Ruben; Mitzman, Francesca; Miranda, Alice; Henriques-Coelho, Tiago; Estevão-Costa, José; Correia-Pinto, Jorge

    2016-04-01

    External compression is used for pectus carinatum (PC) treatment, but many patients are noncompliant. Costal cartilage resection (CCR) has been described as an alternative, but these approaches sacrifice the internal thoracic arteries (ITA). We aim to assess the feasibility of CCR sparing ITA comparing thoracoscopic and subcutaneous endoscopic approaches. Twelve pigs were used as models for surgical PC correction and randomized for 2 groups: thoracoscopy (T) and subcutaneous (subpectoralis) endoscopy (SP). In both groups, CCR from 3rd 4th and 5th ribs was performed avoiding ITA damage. ITA preservation was confirmed by Doppler-ultrasound as well as postmortem injection of methylene blue. Four persons evaluated the procedures being difficult, using a 6-item modified validated scale. In both techniques, the procedure was accomplished in all animals sparing ITAs. CCR was faster in T than in SP (49±5 vs. 65±16minutes, p<0.05). T was classified as easier than SP (p<0.001) with a significantly higher score for all items, especially better image and tissue handling. Sparing the ITAs during CCR for correction of PC is feasible in a porcine model and might be a goal in humans. The thoracoscopic approach allows for a faster and easier procedure. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. [Clinical research on the application of trans-esophageal echocardiography in monitoring Nuss surgery].

    PubMed

    Mou, Ling; Xu, Bing; Lan, Zhixun

    2015-04-01

    To investigate the validity and safety of trans-esophageal echocardiography (TEE) in monitoring of Nuss surgery. A total of 140 patients with pectus excavatum from Sichuan Provincial People's Hospital underwent Nuss surgery from August, 2011 to Aμgust, 2013. Among them, 72 patients received TEE monitoring while 68 patients didn't. The injury of heart and large vessels by the introducer and Nuss steel bar was observed by intraoperative TEE monitoring under middle-esophageal four chamber view and middle-esophageal aortic short axis view. The operation in all patients had been performed successfully without any severe complications. Satisfactory TEE images were obtained in all patients. The procedure of inserting the inducer and Nuss steel bar behind sternum and steel bar overturn could be seen clearly. No injury in heart and large vessels was detected. Local streak-like hemorrhage in 3 patients was observed under intra-operative TEE screen, but no further new bleeding was found in postoperative TEE examination. The blood was absorbed and couldn't see under trans-thoracic echocardiography in 1 month after the operation. The TEE is a non-invasive monitoring method. It is sensitive to detect the status of the heart and large vessels and can prevent the severe complications due to Nuss surgery.

  1. Bracing in pediatric patients with pectus carinatum is effective and improves quality of life.

    PubMed

    Colozza, Sara; Bütter, Andreana

    2013-05-01

    The purpose of this study was to examine the effectiveness and patient satisfaction with bracing for pectus carinatum (PC). Twenty-five PC patients were treated between August 2007 and October 2011. Most patients were male (21/25,84%) with a mean age of 14.4 ± 2.0 yrs. A lightweight, patient controlled, external brace (Braceworks, Calgary, AB) was used. Monthly follow-up with anterior-posterior (AP) width measurements occurred until bracing was completed. Three quality of life (QOL) questionnaires were used: SF-36, SSQ, and PEEQ. Group 1 involved twenty patients who successfully completed bracing (12/25,56%) or who are still bracing (8/25,32%). Group 2 comprised five patients who failed bracing (2/25,8%) or who were noncompliant (3/25,12%). One patient who failed bracing underwent successful Ravitch repair. AP width decreased more in those with successful bracing (2.31 vs 0.64 cm, p=0.05). Questionnaires were completed by 19/25 (76%) patients. Pre-bracing, the SF-36, and PEEQ revealed that few patients were symptomatic, although most still avoided activities which showed their chest. The SSQ revealed that the majority of patients were very satisfied with their post-bracing appearance, experienced minimal discomfort while bracing, and would use the brace again. Self-esteem increased significantly after bracing (7.5 vs 8.7, p=0.01). Bracing in PC patients is very effective in a compliant patient with close follow-up. Surgical repair remains feasible if bracing fails. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. The effect on cardiopulmonary function after thoracoplasty in pectus carinatum: a systematic literature review.

    PubMed

    Sigl, Stephan; Del Frari, Barbara; Harasser, Carina; Schwabegger, Anton H

    2018-03-01

    Creating an aesthetically appealing result using thoracoplasty, especially when correcting extensive deformities, but only causing low morbidity, is challenging. The frequency of thoracoplasties in cases of pectus carinatum (PC) has increased due to improved experience and modified surgical techniques, resulting in low morbidity and low complication rates. The indications for surgical treatment are still controversial and, in most cases, remain aesthetic or psychological rather than physiological. However, whether cardiopulmonary function changes after surgical repair remains a matter of controversy. We sought to investigate and shed light on published knowledge regarding this question. We searched MEDLINE and PubMed databases, using various defined search phrases and inclusion criteria, to identify articles on pre- and postoperative cardiopulmonary evaluation and outcomes. Six studies met the inclusion criteria: 5 studies evaluated patients with PC for cardiopulmonary outcomes after chest wall surgery and 1 did so following conservative compression treatment. In these studies, surgical and conservative correction of PC did not reduce absolute lung volumes and spirometric measurements and consequently had no pathogenic effect on cardiopulmonary function. The results of this systematic review suggest that surgical correction of PC has no symptomatic pathogenic effect on cardiopulmonary function. The results, however, revealed both heterogeneity in the examinations used and inconsistent methods within each study. Further prospective trials with a stronger methodological design are necessary to objectively confirm that surgical correction of PC does not impair cardiopulmonary function. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  3. A Single-Center Experience with Dynamic Compression Bracing for Children with Pectus Carinatum.

    PubMed

    Poola, Ashwini Suresh; Pierce, Amy L; Orrick, Beth A; Peter, Shawn David St; Snyder, Charles L; Juang, David; Aguayo, Pablo; Fraser, Jason D; Holcomb, George W

    2018-02-01

     Bracing for pectus carinatum (PC) has emerged as an alternative to surgical correction. However, predictive factors for bracing remain poorly understood, as much of the data have been reported from small series.  We reviewed a prospective dataset in patients with PC who underwent dynamic compression bracing (DCB) from July 2011 to July 2016. Bracing was initiated in patients > 10 years of age with a significant PC and desire for bracing. Data were analyzed for those observed two or more times after the brace was fitted to the patient.  A total of 503 patients were evaluated for PC and 340 (68%) underwent DCB. Eighty-five percent were males with an average age of 14 ± 2 years. There was a positive correlation of age with pressure of initial correction (PIC, r  = 0.2). One patient underwent operative correction as the initial therapy. Two hundred seventeen patients had two or more visits after the patient was fitted for the brace. The mean PIC in this cohort was 4 psi (range: 1.5-7.8), and the median duration of bracing in this group was 16 months (IQR: 7-23 months). One hundred three patients (47%) achieved complete correction after an average bracing time of 7.5 months and were then placed in the retainer mode. Thirty patients successfully completed bracing therapy and required an average of 23 months of therapy (2 months-4 years). No patient recurred after bracing was completed, but one failed bracing and required operative correction. Complications included mechanical problems (8%), skin complications (10%), complaints of tightness (3%), and pain (2%).  DCB has both early and lasting effects in the correction of PC with minimal complications. Predictive factors for successful resolution of the PC include increased duration of DCB and lower initial PIC. Georg Thieme Verlag KG Stuttgart · New York.

  4. Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

    PubMed

    Santoro, C; Giugliano, T; Melone, M A B; Cirillo, M; Schettino, C; Bernardo, P; Cirillo, G; Perrotta, S; Piluso, G

    2018-01-01

    Neurofibromatosis type 1 (NF1) has long been considered a well-defined, recognizable monogenic disorder, with neurofibromas constituting a pathognomonic sign. This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal tumors, suggesting that neurogenic tumors and hypertrophic neuropathy may be a complication of Noonan syndrome with multiple lentigines (NSML) or RASopathy phenotype. We describe a 15-year-old boy, whose mother previously received clinical diagnosis of NF1 due to presence of bilateral cervical and lumbar spinal lesions resembling plexiform neurofibromas and features suggestive of NS. NF1 molecular analysis was negative in the mother. The boy presented with Noonan features, multiple lentigines and pectus excavatum. Next-generation sequencing analysis of all RASopathy genes identified p.Ser548Arg missense mutation in SOS1 in the boy, confirmed in his mother. Brain and spinal magnetic resonance imaging scans were negative in the boy. No heart involvement or deafness was observed in proband or mother. This is the first report of a SOS1 mutation associated with hypertrophic neuropathy resembling plexiform neurofibromas, a rare complication in Noonan phenotypes with mutations in RASopathy genes. Our results highlight the overlap between RASopathies, suggesting that NF1 diagnostic criteria need rethinking. Genetic analysis of RASopathy genes should be considered when diagnosis is uncertain. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Intraoperative cryoanalgesia for managing pain after the Nuss procedure.

    PubMed

    Graves, Claire; Idowu, Olajire; Lee, Sang; Padilla, Benjamin; Kim, Sunghoon

    2017-06-01

    Cryoanalgesia prevents pain by freezing the affected peripheral nerve. We report the use of intraoperative cryoanalgesia during the Nuss procedure for pectus excavatum and describe our initial experience, modifications of technique, and lessons learned. We retrospectively reviewed the medical records of patients who received cryoanalgesia during the Nuss procedure between June 1, 2015, and April 30, 2016, at our institutions and analyzed modifications in surgical technique during this early adoption period. Eight male and two female patients underwent the Nuss procedure with cryoanalgesia. The mean postoperative length of stay (LOS) was 2days (range 1-3). Average inpatient pain scores were 3.4, 3.2, and 4.6 on postoperative days 1-3, respectively (N=10, 7, and 2). At a 1-week postoperative visit, mean pain score was 1.1 (N=6). Compared to the preceding 15 Nuss patients at our institution, who were treated with a thoracic epidural, postoperative LOS was significantly shorter with cryoanalgesia (2.0±0.82 vs. 6.3±1.3days, P<0.001). We modified our technique for patient habitus and adopted single-lung ventilation for improved visualization. Cryoanalgesia may be the ideal pain management strategy for Nuss patients because it is effective and long lasting. Intraoperative application is easily integrated into the Nuss procedure. Treatment study: case series; Evidence level IV. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Patterns of pulmonary perfusion scans in normal subjects

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Wallace, J.M.; Moser, K.M.; Hartman, M.T.

    1981-01-01

    A vital factor conditioning the usage of the pulmonary perfusion (Q) scan in the evaluation of patients suspected of pulmonary embolism is the prevalence of abnormal Q scans in subjects free of cardiopulmonary disease. Because this prevalence has not been well defined, we performed Q scans in 80 nonsmoking subjects 18 to 29 yr of age having no known active cardiopulmonary disease. Each subject underwent a history, physical examination, electrocardiogram, spirometry, and PA chest roentgenogram, followed by a 6-view Q scan. Two subjects in whom a Q defect was suspected underwent a /sup 133/Xe equilibrium-washout ventilation (V) scan. All Qmore » scans were interpreted blindly and independently by 2 experienced readers. Seventy-nine of the 80 Q scans were read as normal. No subject demonstrated a lobar or segmental defect. One of the 80 subjects, who had a mild pectus excavatum, had a left upper lobe subsegmental defect, which was not seen on the V scan. Based on the statistical analysis of these data, no more than 3.68% of normal nonsmoking persons in this age group may have a lobar or segmental Q scan defect and no more than 6.77% may have a subsegmental defect (with 95% confidence). Therefore, our study indicated that Q scan defects, particularly lobar or segmental, are rarely present among normal nonsmokers in this age group.« less

  7. Dynamic Compression System: An Effective Nonoperative Treatment for Pectus Carinatum: A Single Center Experience in Basel, Switzerland.

    PubMed

    Sesia, Sergio B; Holland-Cunz, Stefan; Häcker, Frank-Martin

    2016-12-01

    Background  Several nonoperative treatments are currently available for the correction of pectus carinatum (PC). Objective  The objective of this study is to report our single center experience with the dynamic compression system (DCS). Materials and Methods  The DCS is a rigid aluminum brace. PC is reshaped into a normal appearance through anterior-posterior pressure and lateral expansion of the chest. Patients with chondrogladiolar PC were considered suitable for the nonoperative treatment with DCS. Results  In this study, 53 of 68 children (78%) with chondrogladiolar PC were assessed retrospectively: 2 children were corrected by surgery, 12/53 (23%) treated by a conventional orthesis, 11/53 (21%) remained without therapy because of minor PC, and 36/53 (68%) were treated using the DCS. Of these 36 patients, 17 (47%) are already cured with a good (7/17) to excellent (10/17) cosmetic result after a median treatment period of 9 months (range, 2.5-16 months). The mean daily time of wearing of the device for those 17 patients was 9 hours (range, 5-18). None abandoned the treatment and there were almost no complications. Conclusions  Lateral expansion of the chest and the possibility to measure the applied pressure seemed to be the key to DCSs success. We propose the DCS as first choice in the treatment of chondrogladiolar PC in children. Georg Thieme Verlag KG Stuttgart · New York.

  8. Importance of a multidisciplinary approach and monitoring in fetal warfarin syndrome.

    PubMed

    Silveira, Daniélle B; da Rosa, Ernani B; de Mattos, Vinicius F; Goetze, Thayse B; Sleifer, Pricila; Santa Maria, Fernanda D; Rosa, Rosana C M; Rosa, Rafael F M; Zen, Paulo R G

    2015-06-01

    Warfarin is a synthetic oral anticoagulant that crosses the placenta and can lead to a number of congenital abnormalities known as fetal warfarin syndrome. Our aim is to report on the follow-up from birth to age 8 years of a patient with fetal warfarin syndrome. He presented significant respiratory dysfunction, as well as dental and speech and language complications. The patient was the second child of a mother who took warfarin during pregnancy due to a metallic heart valve. The patient had respiratory dysfunction at birth. On physical examination, he had a hypoplastic nose, pectus excavatum, and clubbing of the fingers. Nasal fibrobronchoscopy showed upper airway obstruction due to narrowing of the nasal cavities. He underwent surgical correction with Max Pereira graft, zetaplasty, and osteotomies for the piriform aperture. At dental evaluation, he had caries and delayed eruption of the upper incisors. Speech and language assessment revealed high palate, mouth breathing, little nasal patency, and shortened upper lip. Auditory long latency and cognitive-related potential to auditory stimuli demonstrated functional changes in the cortical auditory pathways. We believe that the frequency of certain findings observed in our patient may be higher in fetal warfarin syndrome than is appreciated, since a significant number result in abortions, stillbirths, or children evaluated in the first year of life without a follow-up. Thus, a multidisciplinary approach and long-term monitoring of these patients may be necessary. © 2015 Wiley Periodicals, Inc.

  9. TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

    PubMed

    Palumbo, Orazio; Fichera, Marco; Palumbo, Pietro; Rizzo, Renata; Mazzolla, Elisabetta; Cocuzza, Donatella Maria; Carella, Massimo; Mattina, Teresa

    2014-03-01

    Interstitial deletion of 2q24.2 is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Previously reported genotype-phenotype correlation identified a minimum deleted region of 2.65 Mb including 15 genes. Recently, a patient with a de novo 2q24.2 microdeletion of 0.4 Mb encompassing only three genes was described. However, the precise relationship between most deleted genes and the clinical features remains unclear. Here we describe a 12-year-old male patient diagnosed with growth retardation and ID. He also showed microcephaly, right palpebral ptosis, scapular winging, and pectus excavatum. Single nucleotide polymorphisms (SNP) array analysis showed a de novo interstitial deletion of 0.122 Mb at 2q24.2 region harboring only TBR1 (T-box, brain, 1; OMIM: 604616), which encodes a T-box family transcription factor expressed in post-mitotic projection neurons and functionally significant in embryologic corticogenesis. This is the first case of a deletion at 2q24.2 involving only TBR1. This finding narrows the smallest region of overlap (SRO) for deletions in this region and strengthens the previously suggested hypothesis that this gene is a strong candidate for the ID phenotype. The identification of TBR1 as candidate for ID encourages further molecular studies to identify novel mutations to understand the pathogenic effects of its haploinsufficiency. Finally, this report provides a review on 10 2q24.2 microdeletion patients. © 2014 Wiley Periodicals, Inc.

  10. Beneficial Effects of Adding Ketamine to Intravenous Patient-Controlled Analgesia with Fentanyl after the Nuss Procedure in Pediatric Patients

    PubMed Central

    Cha, Moon Ho; Eom, Ji Hye; Lee, Yoon Sook; Kim, Woon Young; Park, Young Cheol; Min, Sam Hong

    2012-01-01

    Purpose The aim of this prospective, double-blind, randomized study was to investigate the analgesic effects of low-dose ketamine on intravenous patient-controlled analgesia (IV-PCA) with fentanyl for pain control in pediatric patients following the Nuss procedure for pectus excavatum. Materials and Methods Sixty pediatric patients undergoing the Nuss procedure were randomly assigned to receive fentanyl (Group F, n=30) or fentanyl plus ketamine (Group FK, n=30). Ten minutes before the end of surgery, following the loading dose of each solution, 0.5 µg/kg/hr of fentanyl or 0.5 µg/kg/hr of fentanyl plus 0.15 mg/kg/hr of ketamine was infused via an IV-PCA pump (basal rate, 1 mL/hr; bolus, 0.5 mL; lock out interval, 30 min). Fentanyl consumption, pain score, ketorolac use, nausea/vomiting, ondansetron use, pruritus, respiratory depression, hallucination, dreaming, and parent satisfaction with pain control were measured throughout the 48 hours following surgery. Results The pain scores, ketorolac use, and fentanyl consumption of Group FK were significantly lower than in Group F (p<0.05). The incidence of nausea/vomiting and ondansetron use in Group FK was significantly lower than in Group F (p<0.05). There were no reports of respiratory depression, hallucination or dreaming. Parent satisfaction with pain control was similar between the two groups. Conclusion We concluded that low-dose ketamine added to IV-PCA with fentanyl after the Nuss procedure in pediatric patients can reduce pain scores, consumption of fentanyl, and incidence of nausea/vomiting without increasing side effects. PMID:22318834

  11. [Aicardi syndrome with Dandy-Walker type malformation].

    PubMed

    Laguado-Herrera, Yuly V; Manrique-Hernández, Edgar F; Peñaloza-Mantilla, Camilo A; Quintero-Gómez, David A; Contreras-García, Gustavo A; Sandoval-Martínez, Diana K

    2015-07-16

    Aicardi syndrome (OMIM 304050) was first described in 1965. Its classic triad consists of infantile spasms, partial or total agenesis of the corpus callosum and ocular disorders, such as chorioretinal lacunae. It has been posited that it is due to a mechanism involving X-linked dominant inheritance. We report the case of a full-term female, with no pathological familial history or parental consanguinity, with a prenatal diagnosis of Dandy-Walker type malformation, who presented convulsions, coloboma of the optic nerve, thoracic vertebral block with presence of scoliosis, transfontanellar ultrasound imaging showing agenesis of the corpus callosum and karyotype 46,XX. She was diagnosed with Aicardi syndrome and died at the age of one and a half months. The autopsy revealed supratentorial hydrocephalus with the presence of choroid plexus papilloma, a cyst in the posterior fossa (fourth ventricle), hypoplasia of the cerebellar vermis, agenesis of the left hemisphere of the corpus callosum and cerebellum, characteristic facial features of the syndrome, ogival palate, pectus excavatum, scoliosis, paraovarian cyst and hepatomegaly. Few cases of an association between the pathology and the presence of Dandy-Walker malformation have been described. We report a new case of the association, bearing in mind that the related disorders, mainly agenesis or hypoplasia of the corpus callosum, suggest the existence of an underlying genetic component. A study of the search for the aetiology must be focused on evaluating those genes that are related with neurodevelopment and its activation in the organogenesis stage. The definitive diagnosis establishes the prognosis, management and genetic counselling of the family.

  12. Usefulness of echocardiography in preparticipation screening of competitive athletes.

    PubMed

    Grazioli, Gonzalo; Merino, Beatriz; Montserrat, Silvia; Vidal, Bàrbara; Azqueta, Manel; Pare, Carles; Sarquella-Brugada, Georgia; Yangüas, Xavier; Pi, Ramon; Til, Lluis; Escoda, Jaume; Brugada, Josep; Sitges, Marta

    2014-09-01

    Despite the established diagnostic value of the electrocardiogram in preparticipation screening of athletes, some cardiac structural changes can be missed, particularly in early disease stages. The aim of this study was to evaluate the prevalence of cardiac structural changes via the systematic use of echocardiography in preparticipation screening of competitive athletes. Professional athletes or participants in a competitive athletic program underwent a screening that included family and personal medical history, physical examination, electrocardiography, exercise testing, and Doppler echocardiography. A total of 2688 athletes (67% men; mean age [standard deviation], 21 [10] years) were included. Most of the echocardiographic evaluations (92.5%) were normal and only 203 (7.5%) showed changes; the most frequent change was left ventricular hypertrophy, seen in 50 athletes (1.8%). Cessation of athletic activity was indicated in 4 athletes (0.14%): 2 for hypertrophic cardiomyopathy (electrocardiography had shown changes that did not meet diagnostic criteria), 1 pectus excavatum with compression of the right ventricle, and 1 significant pulmonary valve stenosis; the rest of the changes did not entail cessation of athletic activity and only indicated periodic monitoring. Although rare, some cardiac structural changes can be missed on physical examination and electrocardiography; in contrast, they are easily recognized with echocardiography. These findings suggest the use of echocardiography in at least the first preparticipation screening of competitive athletes to improve the effectiveness of programs aimed at preventing sudden death in athletes. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  13. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

    PubMed

    Klaassens, Merel; Morrogh, Deborah; Rosser, Elisabeth M; Jaffer, Fatima; Vreeburg, Maaike; Bok, Levinus A; Segboer, Tim; van Belzen, Martine; Quinlivan, Ros M; Kumar, Ajith; Hurst, Jane A; Scott, Richard H

    2015-05-01

    De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome. Frameshift and splice-site variants thought to avoid nonsense-mediated RNA decay have been seen in Marshall-Smith syndrome. We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. The phenotype is characterised by moderate postnatal overgrowth and macrocephaly. Median height and head circumference in childhood are 2.0 and 2.3 standard deviations (SD) above the mean, respectively. There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. Neonatal feeding difficulties and/or hypotonia have been reported in 30% of patients. Developmental delay/learning disability have been reported in all cases and are typically moderate. Ocular phenotypes are common, including strabismus (65%), nystagmus (25% ) and optic disc pallor/hypoplasia (25%). Other recurrent features include pectus excavatum (40%) and scoliosis (25%). Eight reported patients have a deletion also encompassing CACNA1A, haploinsufficiency of which causes episodic ataxia type 2 or familial hemiplegic migraine. One previous case had episodic ataxia and one case we report has had cyclical vomiting responsive to pizotifen. In individuals with this contiguous gene deletion syndrome, awareness of possible later neurological manifestations is important, although their penetrance is not yet clear.

  14. Reversal of childhood idiopathic scoliosis in an adult, without surgery: a case report and literature review

    PubMed Central

    2009-01-01

    Background Some patients with mild or moderate thoracic scoliosis (Cobb angle <50-60 degrees) suffer disproportionate impairment of pulmonary function associated with deformities in the sagittal plane and reduced flexibility of the spine and chest cage. Long-term improvement in the clinical signs and symptoms of childhood onset scoliosis in an adult, without surgical intervention, has not been documented previously. Case presentation A diagnosis of thoracic scoliosis (Cobb angle 45 degrees) with pectus excavatum and thoracic hypokyphosis in a female patient (DOB 9/17/52) was made in June 1964. Immediate spinal fusion was strongly recommended, but the patient elected a daily home exercise program taught during a 6-week period of training by a physical therapist. This regime was carried out through 1992, with daily aerobic exercise added in 1974. The Cobb angle of the primary thoracic curvature remained unchanged. Ongoing clinical symptoms included dyspnea at rest and recurrent respiratory infections. A period of multimodal treatment with clinical monitoring and treatment by an osteopathic physician was initiated when the patient was 40 years old. This included deep tissue massage (1992-1996); outpatient psychological therapy (1992-1993); a daily home exercise program focused on mobilization of the chest wall (1992-2005); and manipulative medicine (1994-1995, 1999-2000). Progressive improvement in chest wall excursion, increased thoracic kyphosis, and resolution of long-standing respiratory symptoms occurred concomitant with a >10 degree decrease in Cobb angle magnitude of the primary thoracic curvature. Conclusion This report documents improved chest wall function and resolution of respiratory symptoms in response to nonsurgical approaches in an adult female, diagnosed at age eleven years with idiopathic scoliosis. PMID:20003501

  15. Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism.

    PubMed

    Della Valle, Elisa; Vezzani, Silvia; Rochira, Vincenzo; Granata, Antonio Raffaele Michele; Madeo, Bruno; Genovese, Elisabetta; Pignatti, Elisa; Marino, Marco; Carani, Cesare; Simoni, Manuela

    2013-01-01

    Hypogonadotropic hypogonadism (HH) is a heterogeneous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome (KS) and isolated HH. The prevalence of other developmental anomalies is not well established. We studied 36 patients with HH (31 males, 5 females, mean age 41.5), 9 with familial and 27 with sporadic HH (33 congenital, 3 adult-onset), by physical examination, smell test (BSIT Sensonics), audiometry, renal ultrasound, and magnetic resonance imaging of the olfactory structures. Based on the smell test, patients were classified as normosmic (n = 21, 58.3%) and hypo/anosmic (n = 15, 41.6%). Hypoplasia/agenesis of olfactory bulbs was found in 40% of patients (10/25; 75% hypo/anosmic, 7.6% normosmic, p < 0.01, Fisher's test). Remarkably, olfactory structures were normal in two anosmic patients, while one normosmic patient presented a unilateral hypoplastic bulb. Fourteen of 33 patients (42.4%) presented neurosensorial hearing loss of various degrees (28.5% hypo/anosmic, 52.6% normosmic, p = NS). Renal ultrasound revealed 27.7% of cases with renal anomalies (26.6% hypo/anosmic, 28.5% normosmic, p = NS). At least one midline defect was found in 50% of the patients (53.3% hypo/anosmic, 47.6% normosmic, p = NS), including abnormal palate, dental anomalies, pectus excavatum, bimanual synkinesis, iris coloboma, and absent nasal cartilage. Anamnestically 4/31 patients reported cryptorchidism (25% hypo/anosmic, 5.2% normosmic, p = NS). Hypo/anosmia is significantly related to anatomical anomalies of the olfactory bulbs/tracts but the prevalence of other developmental anomalies, especially midline defects and neurosensorial hearing loss, is high both in HH and KS and independent of the presence of anosmia/hyposmia. From the clinical standpoint KS and normosmic HH should be considered as the same complex, developmental disease.

  16. A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair

    PubMed Central

    Gripp, Karen W.; Aldinger, Kimberly A.; Bennett, James T.; Baker, Laura; Tusi, Jessica; Powell-Hamilton, Nina; Stabley, Deborah; Sol-Church, Katia; Timms, Andrew E.; Dobyns, William B.

    2016-01-01

    Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen activated protein kinases of the RAS/MAPK pathway. Here we report four patients with de novo missense mutations in protein phosphatase 1 catalytic subunit beta (PPP1CB), sharing a recognizable phenotype. Three individuals had the recurrent PPP1CB c.146G>C, p.Pro49Arg mutation, the fourth had a c.166G>C, p.Ala56Pro change. All had relative or absolute macrocephaly, low-set and posteriorly angulated ears and developmental delay. Slow growing and/or sparse hair and/or an unruly hair texture was present in all. Three individuals had feeding difficulties requiring feeding tubes. One of two males had cryptorchidism, another had pectus excavatum. Short stature was present in three. A female with the recurrent mutation had a Dandy-Walker malformation and optic nerve hypoplasia. Mild ventriculomegaly occurred in all, cerebellar tonsillar ectopia was seen in two and progressed to Chiari 1 malformation in one individual. Based on the combination of phenotypic findings and PPP1CB’s effect on RAF dephosphorylation within the RAS/MAPK pathway, this novel condition can be considered a rasopathy, most similar to NS-LAH. Collectively, these mutations meet the standardized criteria for pathogenicity. PMID:27264673

  17. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

    PubMed

    Gripp, Karen W; Aldinger, Kimberly A; Bennett, James T; Baker, Laura; Tusi, Jessica; Powell-Hamilton, Nina; Stabley, Deborah; Sol-Church, Katia; Timms, Andrew E; Dobyns, William B

    2016-09-01

    Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen-activated protein kinases of the RAS/MAPK pathway. Here we report four patients with de novo missense mutations in protein phosphatase one catalytic subunit beta (PPP1CB), sharing a recognizable phenotype. Three individuals had the recurrent PPP1CB c.146G>C, p.Pro49Arg mutation, the fourth had a c.166G>C, p.Ala56Pro change. All had relative or absolute macrocephaly, low-set and posteriorly angulated ears, and developmental delay. Slow growing and/or sparse hair and/or an unruly hair texture was present in all. Three individuals had feeding difficulties requiring feeding tubes. One of two males had cryptorchidism, another had pectus excavatum. Short stature was present in three. A female with the recurrent mutation had a Dandy-Walker malformation and optic nerve hypoplasia. Mild ventriculomegaly occurred in all, cerebellar tonsillar ectopia was seen in two and progressed to Chiari 1 malformation in one individual. Based on the combination of phenotypic findings and PPP1CB's effect on RAF dephosphorylation within the RAS/MAPK pathway, this novel condition can be considered a rasopathy, most similar to NS-LAH. Collectively, these mutations meet the standardized criteria for pathogenicity. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. DEL phenotype.

    PubMed

    Kwon, Dong H; Sandler, S G; Flegel, Willy A

    2017-09-01

    DEL red blood cells (RBCs) type as D- by routine serologic methods and are transfused routinely, without being identified as expressing a very weak D antigen, to D- recipients. DEL RBCs are detected only by adsorption and elution of anti-D or by molecular methods. Most DEL phenotypes have been reported in population studies conducted in East Asia, although DEL phenotypes have been detected also among Caucasian individuals. Approximately 98 percent of DEL phenotypes in East Asians are associated with the RHD*DEL1 or RHD*01EL.01 allele. The prevalence of DEL phenotypes has been reported among D- Han Chinese (30%), Japanese (28%), and Korean (17%) populations. The prevalence of DEL phenotypes is significantly lower among D- Caucasian populations (0.1%). Among the 3-5 percent of African individuals who are D-, there are no reports of the DEL phenotype. Case reports from East Asia indicate that transfusion of DEL RBCs to D- recipients has been associated with D alloimmunization. East Asian immigrants constitute 2.1 percent of the 318.9 million persons residing in the United States, and an estimated 2.8 percent are blood donors. Using these statistics, we estimate that 68-683 units of DEL RBCs from donors of East Asian ancestry are transfused as D- annually in the United States. Given the reports from East Asia of D alloimmunization attributed to transfusion of DEL RBCs, one would expect an occasional report of D alloimmunization in the United States following transfusion of DEL RBCs to a D- recipient. If such cases do occur, the most likely reason that they are not detected is the absence of active post-transfusion monitoring for formation of anti-D.

  19. Acerca del moho

    EPA Pesticide Factsheets

    El moho forma parte del medio ambiente natural. Afuera del hogar, el moho juega un papel en la naturaleza al desintegrar materias organicas tales como las hojas que se han caido o los arboles muertos. El moho puede crecer adentro del hogar cuando las espor

  20. Produccion Gaseosa del Cometa Halley: Erupciones Y Fotodisociacion del Radical OH

    NASA Astrophysics Data System (ADS)

    Silva, A. M.; Mirabel, I. F.

    1990-11-01

    RESUMEN:En este trabajo informamos la detecci6n de 20 erupciones en la li'nea de =18cm (1667MHz) del radical OH en el Cometa Halley.Las observaciones incluyen todos los monitoreos existentes y se extienden desde 120 dias antes del perihelio hasta 90 dias despues.Se detectan bruscos crecimientos en el flujo medido,hasta un factor 1O,seguidos por decaimientos lentos asociados con la fotodisociaci6n del OH. Se obtuvieron valores para el tiempo de vida fotoquimico del OH y del H2O basandose en el modelo desarrollado previamente por Silva(1988). Esos tiempos de vida estan de acuerdo con predicciones teoricas y con las observaciones en el Ultravioleta, y los resultados, los que son fuertemente dependientes de la velocidad heliocentrica del Coineta (variando hasta un factor 6), han sido calculados para varios rangos de velocidad entre +28 y -28 km/seg. Key wo'L :

  1. From first to latest imaging technology: Revisiting the first mummy investigated with X-ray in 1896 by using dual-source computed tomography.

    PubMed

    Zesch, Stephanie; Panzer, Stephanie; Rosendahl, Wilfried; Nance, John W; Schönberg, Stefan O; Henzler, Thomas

    2016-01-01

    The aim of this study was to systematically reinvestigate the first human mummy that was ever analyzed with X-ray imaging in 1896, using dual-source computed tomography (DSCT) in order to compare the earliest and latest imaging technologies, to estimate preservation, age at death, sex, anatomical variants, paleopathological findings, mummification, embalming and wrapping of the child mummy from ancient Egypt. Radiocarbon dating was used to determine the mummy's age and to specify the child's living period in the Egyptian chronology. The ancient Egyptian child mummy is kept in the Senckenberg Museum of Natural History in Frankfurt am Main, Germany. An accelerator mass spectrometer (MICADAS) was used for radiocarbon dating. DSCT was performed using a 2 × 64 slice dual-source CT system (Siemens Healthineers, Forchheim, Germany). A thorough visual examination of the mummy, a systematic radiological evaluation of the DICOM datasets, and established methods in physical anthropology were applied to assess the bio-anthropological data and the post mortem treatment of the body. Radiocarbon dating yielded a calibrated age between 378 and 235 cal BC (95.4% confidence interval), corresponding with the beginning of the Ptolemaic period. The mummy was a male who was four to five years old at the time of death. Remnants of the brain and inner organs were preserved by the embalmers, which is regularly observed in ancient Egyptian child mummies. Skin tissue, inner organs, tendons and/or musculature, cartilage, nerves and vasculature could be identified on the DSCT dataset. The dental health of the child was excellent. Anatomical variants and pathological defects included a congenital Pectus excavatum deformity, hepatomegaly, Harris lines, and longitudinal clefts in the ventral cortices of both femora. Our results highlight the enormous progress achieved form earliest to latest imaging technology for advanced mummy research using the first human mummy investigated with X

  2. Vigilando la Calidad del Agua de los Grandes Rios de la Nacion: El Programa NASQAN del Rio Grande (Rio Bravo del Norte)

    USGS Publications Warehouse

    Lurry, Dee L.; Reutter, David C.; Wells, Frank C.; Rivera, M.C.; Munoz, A.

    1998-01-01

    La Oficina del Estudio Geologico de los Estados Unidos (U.S. Geological Survey, 0 USGS) ha monitoreado la calidad del agua de la cuenca del Rio Grande (Rio Bravo del Norte) desde 1995 como parte de la rediseiiada Red Nacional para Contabilizar la Calidad del Agua de los Rios (National Stream Quality Accounting Network, o NASOAN) (Hooper and others, 1997). EI programa NASOAN fue diseiiado para caracterizar las concentraciones y el transporte de sedimento y constituyentes quimicos seleccionados, encontrados en los grandes rios de los Estados Unidos - incluyendo el Misisipi, el Colorado y el Columbia, ademas del Rio Grande. En estas cuatro cuencas, el USGS opera actualmente (1998) una red de 40 puntos de muestreo pertenecientes a NASOAN, con un enfasis en cuantificar el flujo en masa (la cantidad de material que pasa por la estacion, expresado en toneladas por dial para cada constituyente. Aplicacando un enfoque consistente, basado en la cuantificacion de flujos en la cuenca del Rio Grande, el programa NASOAN esta generando la informacion necesaria para identificar fuentes regionales de diversos contaminantes, incluyendo sustancias qui micas agricolas y trazas elementos en la cuenca. EI efecto de las grandes reservas en el Rio Grande se puede observar segun los flujos de constituyentes discurren a 10 largo del rio. EI analisis de los flujos de constituyentes a escala de la cuenca proveera los medios para evaluar la influencia de la actividad humana sobre las condiciones de calidad del agua del Rio Grande.

  3. Induced Pectus Carinatum.

    PubMed

    Maddali, Madan Mohan; Valliattu, John; Kandachar, Pranav Subbaraya; Thomas, Eapen; Nishant, Arora Ram

    2016-05-01

    During the surgical repair of a truncus arteriosus with aortic arch interruption and pulmonary artery origin stenosis, a Contegra conduit was implanted as part of reconstruction of the pulmonary artery in a small infant. There was a mismatch between the conduit size and the patient that resulted in protrusion of the conduit between the sternal edges. To accommodate the conduit inside the thoracic cavity, traction was applied to the sternum that was gradually released over a period of time guided by transesophageal echocardiography-derived cardiac output data, as well as continuous hemodynamic parameters. doi: 10.1111/jocs.12734 (J Card Surg 2016;31:357-360). © 2016 Wiley Periodicals, Inc.

  4. Radio-Observaciones del OH EN la Coma del Cometa Halley Desde EL Hemisferio Sur

    NASA Astrophysics Data System (ADS)

    Silva, A. M.; Bajaja, E.; Morras, R.; Cersosimo, J. C.; Martin, M. C.; Arnal, E. M.; Poppel, W. G. L.; Colomb, F. R.; Mazzaro, J.; Olalde, J. C.; Boriakoff, V.; Mirabel, I. F.

    1987-05-01

    Se utilizó una antena de 30 metros del Instituto Argentino de Radioastronomía para observaciones diarias Cf ebrero a abril de 1986) de la transición en 1667 MHz ( λ = 18 cm) del OH en la coma del cometa Halley. De las observaciones realizadas se concluye: 1) El número promedio de moléculas de OH en la coma durante 37 días de observación fue de (8.9±3.5)x1034 moléculas, lo que implica una tasa de producción promedio de OH de 1.8x1029 moléculas seg-1 y consecuentemente una pérdida de masa promedio de 17±6 toneladas seg-1 . Este valor está de acuerdo con las mediciones realizadas por las sondas Vega y Giotto. 2) El monitoreo desde el lAR revela la existencia de variaciones bruscas en los flujos de absorción del OH. Estas variaciones son consistentes con los modelos que representan la producción gaseosa a partir de ejecciones y/o desprendimientos discretos de materia congelada del núcleo. 3) Las variaciones en la densidad de flujo son consistentes con las estimaciones de los tiem- pos de vida medios del H2O y del OH en presencia del campo de radiación solar. 4) Se encuentra una correlación entre la intensidad del flujo absorbido y anisotropías en Ia dinamica de la coma.

  5. Espectroscopia del Cometa Halley

    NASA Astrophysics Data System (ADS)

    Naranjo, O.; Fuenmayor, F.; Ferrin, L.; Bulka, P.; Mendoza, C.

    1987-05-01

    Se reportan observaciones espectroscópicas del cometa Halley. Los espectros fueron tomados usando el espectrógrafo del telescopio reflector de 1 metro del Observatorio Nacional de Venezuela. Se utilizó óptica azul, con una red de difracción de 600 lineas/min, obteniéndose una dispersión de 74.2 A/mm y una resolución de 2.5 A, en el rango espectral de 3500 a 6500 A. Seis placas fueron tomadas con emulsión IIa-O y dos con IIa-D. Los tiempos de exposición fueron entre 10 y 150 minutos. El cometa se encontraba entre 0.70 y 1.04 UA del Sol, y entre 1.28 y 0.73 UA de la Tierra. Las emisiones más prominentes en el espectro, son las del CN, C2, y C3. Otras emisiones detectadas corresponden a CH, NH2 y Na. Los espectros muestran un fuerte continuo, indicando un contenido significativo de polvo. Se detectó mayor intensidad del contínuo, en la dirección anti solar, lo cual es evidencia de la cola de polvo.

  6. Intertextual Sexual Politics: Illness and Desire in Enrique Gomez Carrillo's "Del amor", "del dolor y del vicio" and Aurora Caceres's "La rosa muerta"

    ERIC Educational Resources Information Center

    LaGreca, Nancy

    2012-01-01

    This study explores the intertextuality between Aurora Caceres's "La rosa muerta" (1914) and the novel "Del amor, del dolor y del vicio" (1898) by her ex-husband, Enrique Gomez Carrillo. Caceres strategically mentions Gomez Carrillo's novel in "La rosa muerta" to invite a reading of her work in dialogue with his. Both narratives follow the sexual…

  7. New records of some Ascomycete truffle fungi from Turkey

    Treesearch

    Aziz TÜRKOÐLU; Michael Angelo CASTELLANO

    2014-01-01

    We report the first records of 6 Ascomycete truffle taxa in Turkey: Genea verrucosa Vittad., Genea klotzschii Berk. & Broome, Stephensia bombycina (Vittad.) Tul. & C.Tul., Terfezia olbiensis Tul. & C.Tul., Tuber excavatum Vittad., and Tuber rufum Pico. We also...

  8. Preliminary Evaluation of a Web-Based Psychological Screening Tool in Adolescents Undergoing Minimally Invasive Pectus Surgery: Single-Center Observational Cohort Study.

    PubMed

    Wildemeersch, Davina; Bernaerts, Lisa; D'Hondt, Michiel; Hans, Guy

    2018-05-31

    Preoperative anxiety and depression are predominant risk factors for increased postoperative pain. Thoracic wall deformities in adolescents often cause low self-esteem, which contributes to psychological concerns. Several studies have suggested a relationship between preoperative mental health support and enhanced recovery after surgery. This study investigated the validity of screening questionnaires concerning psychological trait and state characteristics via a patient-specific online platform. Patients scheduled for elective pectus surgery between June 2017 and August 2017 were invited to participate in clinical interviews and online self-report questionnaires. All patients were recruited in the Anesthesiology Department, Antwerp University Hospital, Belgium. This single-center observational cohort study was performed in accordance with the ethical standards of the International Council for Harmonisation-Good Clinical Practice guidelines and the Declaration of Helsinki after obtaining study approval by the Institutional Review Board and Ethics Committee of the Antwerp University Hospital, Belgium (study identifier: 17/08/082). An online preoperative psychological inventory was performed using the Rosenberg Self-Esteem Scale, Hospital Anxiety and Depression Scale, and State-Trait Anxiety Inventory. Postoperatively, pain intensity and interference were assessed using the Multidisciplinary Pain Inventory, Coping With Pain Questionnaire, and numeric pain rating scale assessment. Patient satisfaction of the Web-based platform was evaluated. A total of 21 adolescent patients used our Web-based psychological perioperative screening platform. Patients rated the mobile phone app, usability, and accessibility of the digital platform as good or excellent in 85% (17/20), 89% (17/19), and 95% (20/21) of the cases, respectively. A total of 89% (17/19) of the patients rated the effort of generating answers to the online questionnaires as low. The results from the completed

  9. Increasing social capital via local networks: analysis in the context of a surgical practice.

    PubMed

    Thakur, Anjani; Yang, Isaac; Lee, Michael Y; Goel, Arpan; Ashok, Ashwin; Fonkalsrud, Eric W

    2002-09-01

    The relationship between social capital (support, trust, patient awareness, and increased practice revenue) and local networks (university hospital) in communities has received little attention. The development of computer-based communication networks (social networks) has added a new dimension to the argument, posing the question of whether local networks can (re-)create social capital in local communities. This relationship is examined through a review of the literature on local networks and social capital and a surgeon's practice management from 1990 to 2001 with respect to repair of pectus chest deformities. With respect to pectus repair there was a consistent but small number of new referrals (15-20 new patients/year), lack of patient awareness (eight to 12 self-referred patients/year), and modest practice revenue. Since the inception of an Internet website (social network) dedicated to pectus repair in 1996 there has been increased social participation (n = 630 hits/year to the website); facilitation of spread of information through E-mail messages (n = 430 messages/year); and a greater participation of groups such as women, minorities, adults, and those with disability (n = 120 patients/year). The dissemination of information via the local network has also allowed an "outward movement" with increased participation by interconnecting communities (n = 698,300 global Internet participants based on statistical ratios). We conclude that local networks have enhanced social networks providing new grounds for the development of relationships based on choice and shared interest.

  10. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Marina Del Rey, CA. 80.1118...

  11. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false Marina Del Rey, CA. 80.1118...

  12. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2013-07-01 2013-07-01 false Marina Del Rey, CA. 80.1118...

  13. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Marina Del Rey, CA. 80.1118...

  14. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2014-07-01 2014-07-01 false Marina Del Rey, CA. 80.1118...

  15. Chromosome 10q tetrasomy: First reported case

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Blackston, R.D.; May, K.M.; Jones, F.D.

    1994-09-01

    While there are several reports of trisomy 10q (at least 35), we are not aware of previous cases of 10q tetrasomy. We present what we believe to be the initial report of such a case. R.J. is a 6 1/2 year old white male who presented with multiple dysmorphic features, marked articulation problems, hyperactivity, and developmental delays. He is the product of a term uncomplicated pregnancy. There was a normal spontaneous vaginal delivery with a birth weight of 6 lbs. 4oz. and length was 19 1/2 inch. Dysmorphic features include small size, an asymmetrically small head, low set ears withmore » overfolded helixes, bilateral ptosis, downslanting eyes, right eye esotropia, prominent nose, asymmetric facies, high palate, mild pectus excavatum deformity of chest, and hyperextensible elbow joints. The patient is in special needs classes for mildly mentally handicapped students. Chromosome analysis at a resolution of 800 bands revealed a complex rearrangement of chromosomes 10 and 11. The segment 10q25.3 to q16.3 appears to be inverted and duplicated within the long arm of chromosome 10 at band q25.3 and the same segment of chromosome 10 is present on the terminal end of the short arm of chromosome 11. There is no visible loss of material from chromosome 11. Fluorescence in situ hybridization was performed with a chromosome 10 specific {open_quotes}paint{close_quotes} to confirm that all of the material on the abnormal 10 and the material on the terminal short arm of 11 was from chromosome 10. Thus, it appears that the segment 10q25.3 to q26.3 is present in four copies. Parental chromosome studies are normal. We compared findings which differ in that the case of 10q tetrasomy did not have prenatal growth deficiency, microphthalmia, cleft palate, digital anomalies, heart, or renal defects. Whereas most cases of 10q trisomy are said to have severe mental deficiency, our case of 10q tetrasomy was only mildly delayed. We report this first apparent cited case of 10q tetrasomy.« less

  16. Manual del McVCO 1999

    USGS Publications Warehouse

    McChesney, P.J.

    1999-01-01

    El McVCO es un generador de frecuencias basado en un microcontrolador que reemplaza al oscilador controlado por voltaje (VCO) utilizado en telemetría analógica de datos sísmicas. Acepta señales de baja potencia desde un sismómetro y produce una señal subportadora modulada en frecuencia adecuada para enlaces telefónicos o vía radio a un lugar remoto de recolección de datos. La frecuencia de la subportadora y la ganancia pueden ser seleccionadas mediante un interruptor. Tiene la opción de poder operar con dos canales para la observación con ganancia alta y baja. El McVCO fue diseñado con el propósito de mejorar la telemetría analógica de las señales dentro de la Pacific Northwest Seismograph Network (PNSN) (Red Sismográfica del Noroeste del Pacífico). Su desarrollo recibió el respaldo del Programa de Geofísica de la Universidad de Washington y del "Volcano Hazards and Earthquake Hazards programs of the United States Geological Survey (USGS) (Programa de Investigaciones de Riesgos Volcánicos y Programa de Investigaciones de Riesgos Sísmicos de los EEUU). Cientos de instrumentos se han construido e instalado. Además de utilizarlo el PNSN, el McVCO es usado por el Observatorio Vulcanológico de Alaska para monitorear los volcanes aleutianos y por el USGS Volcano Disaster Assistance Program (Programa de Ayuda en las Catástrofes Volcánicas del USGS) para responder a crisis volcánicas en otros países. Este manual cubre el funcionamiento del McVCO, es una referencia técnica para aquellos que necesitan saber con más detalle cómo funciona el McVCO, y cubre una serie de temas que requieren un trato explícito o que derivan del despliegue del instrumento.

  17. Ácaros del mango

    USDA-ARS?s Scientific Manuscript database

    Los ácaros constituyen un grupo abundante y diverso que ocupa diferentes hábitats en árboles frutales y la estructura y disposición del follaje y ramas del mango, contribuyen significativamente a que se presente gran diversidad de ácaros benéficos y dañinos asociados a esta especie frutal. En Colomb...

  18. Torres del Paine National Park

    NASA Image and Video Library

    2017-12-08

    Grinding glaciers and granite peaks mingle in Chile’s Torres del Paine National Park. The Advanced Land Imager (ALI) on NASA’s Earth Observing-1 (EO-1) satellite captured this summertime image of the park on January 21, 2013. This image shows just a portion of the park, including Grey Glacier and the mountain range of Cordillera del Paine. The rivers of glacial ice in Torres del Paine National Park grind over bedrock, turning some of that rock to dust. Many of the glaciers terminate in freshwater lakes, which are rich with glacial flour that colors them brown to turquoise. Skinny rivers connect some of the lakes to each other (image upper and lower right). Cordillera del Paine rises between some of the wide glacial valleys. The compact mountain range is a combination of soaring peaks and small glaciers, most notably the Torres del Paine (Towers of Paine), three closely spaced peaks emblematic of the mountain range and the larger park. By human standards, the mountains of Cordillera del Paine are quite old. But compared to the Rocky Mountains (70 million years old), and the Appalachians (about 480 million years), the Cordillera del Paine are very young—only about 12 million years old. A study published in 2008 described how scientists used zircon crystals to estimate the age of Cordillera del Paine. The authors concluded that the mountain range was built in three pulses, creating a granite laccolith, or dome-shaped feature, more than 2,000 meters (7,000 feet) thick. NASA Earth Observatory image created by Jesse Allen and Robert Simmon, using Advanced Land Imager data from the NASA EO-1 team. Caption by Michon Scott. Instrument: EO-1 - ALI View more info: earthobservatory.nasa.gov/IOTD/view.php?id=80266 Credit: NASA Earth Observatory NASA image use policy. NASA Goddard Space Flight Center enables NASA’s mission through four scientific endeavors: Earth Science, Heliophysics, Solar System Exploration, and Astrophysics. Goddard plays a leading role in NASA

  19. Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR.

    PubMed

    Donaldson, Scott H; Pilewski, Joseph M; Griese, Matthias; Cooke, Jon; Viswanathan, Lakshmi; Tullis, Elizabeth; Davies, Jane C; Lekstrom-Himes, Julie A; Wang, Linda T

    2018-01-15

    Tezacaftor (formerly VX-661) is an investigational small molecule that improves processing and trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) in vitro, and improves CFTR function alone and in combination with ivacaftor. To evaluate the safety and efficacy of tezacaftor monotherapy and of tezacaftor/ivacaftor combination therapy in subjects with cystic fibrosis homozygous for F508del or compound heterozygous for F508del and G551D. This was a randomized, placebo-controlled, double-blind, multicenter, phase 2 study (NCT01531673). Subjects homozygous for F508del received tezacaftor (10 to 150 mg) every day alone or in combination with ivacaftor (150 mg every 12 h) in a dose escalation phase, as well as in a dosage regimen testing phase. Subjects compound heterozygous for F508del and G551D, taking physician-prescribed ivacaftor, received tezacaftor (100 mg every day). Primary endpoints were safety through Day 56 and change in sweat chloride from baseline through Day 28. Secondary endpoints included change in percent predicted FEV 1 (ppFEV 1 ) from baseline through Day 28 and pharmacokinetics. The incidence of adverse events was similar across treatment arms. Tezacaftor (100 mg every day)/ivacaftor (150 mg every 12 h) resulted in a 6.04 mmol/L decrease in sweat chloride and 3.75 percentage point increase in ppFEV 1 in subjects homozygous for F508del, and a 7.02 mmol/L decrease in sweat chloride and 4.60 percentage point increase in ppFEV 1 in subjects compound heterozygous for F508del and G551D from baseline through Day 28 (P < 0.05 for all). These results support continued clinical development of tezacaftor (100 mg every day) in combination with ivacaftor (150 mg every 12 h) in subjects with cystic fibrosis. Clinical trial registered with www.clinicaltrials.gov (NCT01531673).

  20. Kurt Gödels Brünner Verwandte

    NASA Astrophysics Data System (ADS)

    Müller, Dora

    2007-11-01

    The author of this memoir Dora Müller (born 1920) belongs - as well as Kurt Gödel-to the German minority playing an important role in the past life of Brno. The marriage of his son included her among the Gödels collaterals. She was chemist, but also pianist, historician, participant of antinacist movement and iniciator of Czech-German understanding after war. Following her personal experiences, remembrances of Gödels relatives and documental materials, she evokes the atmosphere of broader family milieu of Kurt Gödel.

  1. The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.

    PubMed

    Petersen, Michael B; Grigoriadou, Maria; Koutroumpe, Maria; Kokotas, Haris

    2012-07-01

    Non-syndromic hearing loss is one of the most common hereditary determined diseases in human, and the disease is a genetically heterogeneous disorder. Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of non-syndromic recessive hearing impairment in many countries and are largely dependent on ethnic groups. Due to the high frequency of the c.35delG GJB2 mutation in the Greek population, we have previously suggested that Greek patients with sensorineural, non-syndromic deafness should be tested for the c.35delG mutation and the coding region of the GJB2 gene should be sequenced in c.35delG heterozygotes. Here we present on the clinical and molecular genetic evaluation of a family suffering from prelingual, sensorineural, non-syndromic deafness. A novel c.247_249delTTC (p.F83del) GJB2 mutation was detected in compound heterozygosity with the c.35delG GJB2 mutation in the proband and was later confirmed in the father, while the mother was homozygous for the c.35delG GJB2 mutation. We conclude that compound heterozygosity of the novel c.247_249delTTC (p.F83del) and the c.35delG mutations in the GJB2 gene was the cause of deafness in the proband and his father. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  2. Estudio del CH interestelar

    NASA Astrophysics Data System (ADS)

    Olano, C.; Lemarchand, G.; Sanz, A. J.; Bava, J. A.

    El objetivo principal de este proyecto consiste en el estudio de la distribución y abundancia del CH en nubes interestelares a través de la observación de las líneas hiperfinas del CH en 3,3 GHz. El CH es una molécula de amplia distribución en el espacio interestelar y una de las pocas especies que han sido observadas tanto con técnicas de radio como ópticas. Desde el punto de vista tecnológico se ha desarrollado un cabezal de receptor que permitirá la realización de observaciones polarimétricas en la frecuencia de 3,3 GHz, con una temperatura del sistema de 60 K y un ancho de banda de 140 MHz, y que será instalado en el foco primario de la antena parabólica del IAR. El cabezal del receptor es capaz de detectar señales polarizadas, separando las componentes de polarización circular derecha e izquierda. Para tal fin el cabezal consta de dos ramas receptoras que amplificarán la señal y la trasladarán a una frecuencia más baja (frecuencia intermedia), permitiendo de esa forma un mejor transporte de la señal a la sala de control para su posterior procesamiento. El receptor además de tener características polarimétricas, podrá ser usado en el continuo y en la línea, utilizando las ventajas observacionales y de procesamiento de señal que actualmente posee el IAR.

  3. Características del viento en estrellas Be derivadas del perfil Hα

    NASA Astrophysics Data System (ADS)

    Rohrmann, R.; Cidale, L.

    El estudio teórico de perfiles Hα y su variabilidad en estrellas Be ha sido frecuentemente desarrollado en base a modelos de envolturas circunestelares inhomogéneas, donde la geometría del material es responsable de la forma del perfil dependiendo de la dirección de observación. Nosotros damos una interpretación alternativa y proponemos que la mayoría de las propiedades de esta línea tienen origen en la base de un viento estelar y de una estructura cromosférica anexa a la fotósfera. Encontramos que típicos perfiles Hα en Be, como son los llamados pole-on y winebottle, pueden ser reproducidos cualitativamente sin recurrir a la existencia de una envoltura asimétrica. Analizamos como la línea Hα permite identificar la posible estructura del viento en la región donde éste se inicia.

  4. Tierra del Fuego, Argentina, South America

    NASA Technical Reports Server (NTRS)

    1991-01-01

    The Mitre Peninsula is the easternmost tip of Tierra del Fuego, Argentina, (54.5S, 65.5W). Early winter snow can be seen on this south tip of the Andes Mountains. These same mountains continue underwater to Antarctica. The Strait of Magellan, separating the South American mainland from Tierra del Fuego is off the scene to the north and west, but the Strait of LeMaire, separating Tierra del Fuego from the Isla de los Estados can be seen.

  5. Unidades del paisaje de Puerto Rico: la influencia del clima, el substrato y la topografia

    Treesearch

    William Gould; Michael E. Jimenez; Gary Potts; Maya Quinones; Sebastian Martinuzzi

    2008-01-01

    El mapa de unidades del paisaje de Puerto Rico representa variaciones climaticas, topograficas y del substrato mediante la integracion de seis zonas climaticas (Ewel y Whitmore, 1973), seis substratos (Bawiec, 2001; USGS, 2005), cinco posiciones topograficas, o topoformas (Martinuzzi et al. 2007), y cuerpos de agua (USGS 2005). Los substratos representan el conjunto...

  6. The 3-M syndrome. A heritable low birthweight dwarfism.

    PubMed

    Van Goethem, H; Malvaux, P

    1987-10-01

    Two male siblings and one girl with the 3-M syndrome are reported. The main clinical features include low birthweight, proportionate dwarfism, hatched-shaped cranio-facial configuration, abnormalities of mouth and teeth, short broad neck with prominent trapezius, pectus deformity, transverse grooves of anterior chest, and winged scapulae.

  7. Analisis del contenido curricular de los Documentos Normativos del Programa de Ciencias en el area de biologia para la escuela superior del sistema de educacion publica de Puerto Rico: 1993-2012

    NASA Astrophysics Data System (ADS)

    Davila Montanez, Melissa

    Esta investigacion de naturaleza cualitativa se ocupo de realizar un analisis de contenido documental de los Documentos Normativos del Programa de Ciencias en el area de biologia de la escuela superior del sistema de educacion publica de Puerto Rico del periodo 1993-2012. Los documentos analizados fueron: Guia Curricular, 1995; Marco Curricular, 2003; Estandares de Excelencia, 1996, 2000 y Estandares de Contenido y Expectativas de Grado, 2007. Se indago si hubo cambios en significados en los Componentes Estructurales: Naturaleza de la ciencia, Paradigmas para la ensenanza de la ciencia, Funcion del curriculo formal, Mision de la ensenanza de la ciencia; Contenidos, destrezas y competencias, Estrategias de ensenanza y Evaluacion/Assessment del aprendizaje. El analisis sugiere que no hubo cambios sustanciales en los significados de los Componentes Estructurales. Los documentos estudiados muestran mayormente caracteristicas similares, aunque los documentos mas recientes eran mas descriptivos, explicativos y especificos.

  8. Estudio teórico del CO2. Orbitales de valencia y del ``core''

    NASA Astrophysics Data System (ADS)

    Olalla Gutiérrez, E.

    Hemos calculado las intensidades de las transiciones E1 a los miembros de las series de Rydberg con origen en los orbitales ``no enlazantes'' del dióxido de carbono, especie de conocida relevancia atmosférica. Se han computado, asimismo, los continuos de fotoionización correspondientes a los distintos canales de ionización, representándolos como densidad espectral de fuerza de oscilador frente a la energía del fotón incidente; mostramos los resultados df/dE para la fotoionización total de esta especie en el intervalo 15-60 eV. Todos los cálculos se han llevado a cabo mediante la formulación Molecular del Método de los Orbitales de Defecto Cuántico, MQDO [1,2]. La calidad de los resultados que presentamos se ha evaluado en base a la comparación con los datos, tanto experimentales como teóricos, disponibles en la bibliografía. El acuerdo encontrado es altamente satisfactorio

  9. Visiting the Gödel universe.

    PubMed

    Grave, Frank; Buser, Michael

    2008-01-01

    Visualization of general relativity illustrates aspects of Einstein's insights into the curved nature of space and time to the expert as well as the layperson. One of the most interesting models which came up with Einstein's theory was developed by Kurt Gödel in 1949. The Gödel universe is a valid solution of Einstein's field equations, making it a possible physical description of our universe. It offers remarkable features like the existence of an optical horizon beyond which time travel is possible. Although we know that our universe is not a Gödel universe, it is interesting to visualize physical aspects of a world model resulting from a theory which is highly confirmed in scientific history. Standard techniques to adopt an egocentric point of view in a relativistic world model have shortcomings with respect to the time needed to render an image as well as difficulties in applying a direct illumination model. In this paper we want to face both issues to reduce the gap between common visualization standards and relativistic visualization. We will introduce two techniques to speed up recalculation of images by means of preprocessing and lookup tables and to increase image quality through a special optimization applicable to the Gödel universe. The first technique allows the physicist to understand the different effects of general relativity faster and better by generating images from existing datasets interactively. By using the intrinsic symmetries of Gödel's spacetime which are expressed by the Killing vector field, we are able to reduce the necessary calculations to simple cases using the second technique. This even makes it feasible to account for a direct illumination model during the rendering process. Although the presented methods are applied to Gödel's universe, they can also be extended to other manifolds, for example light propagation in moving dielectric media. Therefore, other areas of research can benefit from these generic improvements.

  10. Extensión del Formalismo de Orbitales de Defecto Cuántico al tratamiento del efecto Stark (SQDO).

    NASA Astrophysics Data System (ADS)

    Menéndez, J. M.; Martín, I.; Velasco, A. M.

    El estudio experimental de las interacciones de átomos Rydberg altamente excitados con campos eléctricos ha experimentado un creciente interés durante las dos últimas décadas debido, en gran medida, al desarrollo de nuevas técnicas para crear y estudiar átomos Rydberg en el laboratorio. Acompañando a estas nuevas técnicas experimentales, es necesario el desarrollo de modelos teóricos que nos permitan contrastar sus medidas y conocer mejor los fundamentos de los mismos. Desde el punto de vista teórico el conocimiento del desdoblamiento de los niveles energéticos de un átomo en función de la magnitud del campo eléctrico aplicado (lo que se conoce como mapa Stark) es el mejor punto de partida para la descripción del sistema y un prerrequisito fundamental para el cálculo de distintas propiedades atómicas en presencia del campo eléctrico tales como intensidades de transición, umbrales de ionización de campo eléctrico, tiempos de vida, posición y anchura de cruces evitados, etc. En este trabajo presentamos la adaptación del método de orbitales de defecto cuántico [1,2,3] al tratamiento del efecto Stark (SQDO) [4] y su aplicación al cálculo de los desdoblamientos energéticos y fuerzas de oscilador de estados Rydberg en los átomos de Li, Na y K. El propósito de este estudio es, por un lado, desarrollar métodos fiables para la determinación de propiedades atómicas en presencia de campos eléctricos y, por otro, mostrar la fiabilidad de las funciones de onda QDO en la descripción del efecto Stark en sistemas atómicos.

  11. del universes in string theory

    NASA Astrophysics Data System (ADS)

    Barrow, John D.; Dabrowski, Mariusz P.

    1998-11-01

    We show that homogeneous Gödel spacetimes need not contain closed timelike curves in low-energy-effective string theories. We find exact solutions for the Gödel metric in string theory for the full O(α') action including both dilaton and axion fields. The results are valid for bosonic, heterotic and super-strings. To first order in the inverse string tension α', these solutions display a simple relation between the angular velocity of the Gödel universe, Ω, and the inverse string tension of the form α'=1/Ω2 in the absence of the axion field. The generalization of this relationship is also found when the axion field is present.

  12. Calidad de Imagen del Telescopio UNAM212

    NASA Astrophysics Data System (ADS)

    Cobos, F. J.; Teiada de Vargas, C.

    1987-05-01

    El telescopio UNAM2l2, del Observatorio Astronómico Nacional, situado en la Sierra de San Pedro Mártir (Baja California, México), cumplira en un futuro muy cercano siete años de uso para fines de investigación astronómica. Aunque en este tiempo no se ha efectuado un estudio sistemático acerca de su comportamiento óptico y de los factores que influyen en la calidad de las imágenes, se han realizado pruebas diversas, estudios parciales y reuniones especificas, cuyos resultados no siempre se han difundido ampliamente y generalmente no se han presentado por escrito. Es por ello que hemos creido necesario intentar una recopilación de la información existente para poder con ella establecer un diagnóstjco que, aunque no sea definitivo, sirva de base para futuros trabajos tendientes a optimizar el comportamiento óptico del telescopio. Es evidente que un buen número de las conclusiones que se presentan son resultado del trabajo de muchas personas ó de esfuerzos colectivos. Asimismo, hemos tratado de localizar información bibliográfica que pueda ser de utilidad. Nuestro objetivo primordial ha consistido en centrarnos en la óptica del telescopio y su calidad, pero también se han considerado otros aspectos que puedan afectar las imágenes obtenidas tales como: celda del primario, `seeing' local y externo, flexiones posibles en la estructura mecánica del telescopio, etc.

  13. Conservacion de truchas del Pacifico

    Treesearch

    Brooke E. Penaluna

    2016-01-01

    La historia de las truchas del Pacífico, pertenecientes al género Oncorhynchus, es una historia muy interesante que se basa en la persistencia y diversificación de sus especies debido, en gran parte, al dinamismo propio que existe en su medio ambiente. Desde el oeste de Norteamérica, extendiéndose hasta el este de Asia, las truchas del Pacífico han experimentado la...

  14. Morphology, geology and geochemistry of the "Salar del Gran Bajo del Gualicho" (Rio Negro, Argentina)

    USGS Publications Warehouse

    Angelucci, A.; Barbieri, M.; Brodtkorb, A.; Ciccacci, S.; Civitelli, G.; De Barrio, R.; Di, Filippo M.; Fredi, P.; Friedman, I.; Lombardi, S.; Schalamuk, A.I.; Toro, B.

    1996-01-01

    A multidisciplinary study of the Gran Bajo del Gualicho area (Rio Negro - Argentina) was carried out; the aim was to delineate its geological and geomorphological evolution and to estabilish the genesis of salts filling the depression. Climatic conditions were analized first to individuate their role in the present morphogenetic processes; moreover the main morphological features of present landscape were examined as well as the stratigraphy of the outcropping formations, and of the Gran Bajo del Gualicho Formation in particular. Finally, a possible geomorphological evolution of the studied area was traced. Geophysical analyses allowed to estabilish that the paleosurface shaped on the crystalline basement is strongly uneven and shows evidence of the strong tectonic phases it underwent. The result of isotope analyses confirmed that the salt deposits on the Gran Bajo del Gualicho bottom were produced by fresh water evaporation, while strontium isotope ratio suggested that such waters were responsible for solubilization of more ancient evaporitic deposits.

  15. Nevado del Huila, Columbia

    NASA Technical Reports Server (NTRS)

    2007-01-01

    Nevado del Huila Volcano in Colombia is actually a volcanic chain running north to south, capped by a glacier. With peaks ranging in height from 2,600 to 5,780 meters (8,530 to 18,960 feet), Nevado del Huila is a stratovolcano composed of alternating layers of hardened lava, solidified ash, and volcanic rocks. Its first recorded eruption occurred in the mid-sixteenth century. The long-dormant volcano erupted again in mid-April 2007. A few months before the eruption, the Advanced Spaceborne Thermal Emission and Reflection Radiometer (ASTER) on NASA's Terra satellite captured this image of Nevado del Huila, on February 23, 2007. In this image, the bright white area just east of the central summit is ice. Immediately west of the summit are bare rocks, appearing as blue-gray. West of those rocks, white reappears, but this patch of white results from clouds hovering in the nearby valley. In the east, the colors turn to brown (indicating bare rock) and bright green (indicating vegetation). ASTER photographed Nevado del Huila near the end of a long phase of quietude. On April 17, 2007, local authorities recorded seismic activity associated with rock fracturing on the volcano's central summit, according to the ReliefWeb Website. Activity intensified the following day with an eruption and mudflows, forcing thousands of nearby residents to evacuate. As the Associated Press reported, the eruption caused avalanches and floods that wiped away both houses and bridges. It marked the volcano's first recorded eruption since the Spanish colonized the area five centuries earlier. NASA image created by Jesse Allen, using data provided courtesy of the NASA/GSFC/MITI/ERSDAC/JAROS, and U.S./Japan ASTER Science Team.

  16. Calidad del aire interior en las escuelas

    EPA Pesticide Factsheets

    EPA ha desarrollado el Programa de Herramientas de Calidad del Aire Interior para las Escuelas para reducir la exposición a los contaminantes ambientales en las mismas a través de la adopción voluntaria de las prácticas para manejar la calidad del aire int

  17. May Gödel's Ideas Be Addressed Philosophically?

    NASA Astrophysics Data System (ADS)

    Dokulil, Miloš

    2007-11-01

    del emphasised philosophy as an important tool in science. Much less is known about his religious background. We should bear in mind that our evaluational perspective differs very much from the one in which Gödel lived. He was personally sure that there must be another existence after death-an afterlife (''of unlimited life span''). As a ''Baptized Lutheran'' he did not include ''Trinity'' in his creed. He was also certain that mind is separate from matter. This text tries to include Libet's ''readiness potential'' into the debate concerning the specificity of the mind. Neither Gödel's identification of materialism with mechanism nor his vision of the ''spirit'' are a viable solution of the problem.

  18. Efecto del Programa de Entrenamiento “Manejo del Dolor” en la Documentación de Enfermería en el Expediente Electrónico

    PubMed Central

    Monsiváis, María Guadalupe Moreno; Guzmán, Ma. Guadalupe Interial; Flores, Paz Francisco Sauceda; Arreola, Leticia Vázquez

    2012-01-01

    Resumen En el presente trabajo se muestra la importancia de entrenar al personal de enfermería para mejorar la documentación en el expediente electrónico. Se eligió el manejo del dolor por ser un área prioritaria; una alta proporción de pacientes en período post operatorio cursa con dolor, por lo tanto, la documentación debe ser útil para la toma de decisiones clínicas. Se implementó un programa de entrenamiento denominado “Manejo del Dolor” dirigido al personal de enfermería. Se utilizó la tecnología de la información como herramienta para fortalecer el conocimiento con base en la revisión sistemática de la literatura; el personal de enfermería participante seleccionó la mejor evidencia; posteriormente se trabajó en la transferencia de este conocimiento a la práctica a través del diseño de un protocolo para el manejo del dolor. Se concluye que el conocimiento del manejo del dolor es fundamental para que enfermería documente con mayor precisión sus intervenciones. PMID:24199106

  19. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false Indian River Bay, Del. 110.65 Section 110.65 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY ANCHORAGES ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing...

  20. El Atlas del Bosque Nacional El Yunque

    Treesearch

    Maya Quiñones; Isabel K. Parés-Ramos; William A. Gould; Grizelle Gonzalez; Kathleen McGinley; Pedro. Ríos

    2018-01-01

    Esta publicación es un esfuerzo colaborativo entre el Instituto Internacional de Dasonomía Tropical y el Bosque Nacional El Yunque para proveer mapas y análisis de información espacial actualizados sobre una importante reserva natural en Puerto Rico y el único bosque tropical dentro del Sistema de Bosques Nacionales de los Estados Unidos. El Atlas del Bosque Nacional...

  1. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 33 Navigation and Navigable Waters 1 2013-07-01 2013-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  2. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  3. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  4. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 33 Navigation and Navigable Waters 1 2014-07-01 2014-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  5. Del-1 Expression as a Potential Biomarker in Triple-Negative Early Breast Cancer.

    PubMed

    Lee, Soo Jung; Lee, Jeeyeon; Kim, Wan Wook; Jung, Jin Hyang; Park, Ho Yong; Park, Ji-Young; Chae, Yee Soo

    2018-01-01

    A differential diagnostic role for plasma Del-1 was proposed for early breast cancer (EBC) in our previous study. We examined tumoral Del-1 expression and analyzed its prognostic impact among patients with EBC. Del-1 mRNA expression was assessed in breast epithelial and cancer cells. Meanwhile, the tumoral expression of Del-1 was determined based on tissue microarrays and immunohistochemistry results from 440 patients. While a high Del-1 mRNA expression was found in all the breast cancer cell lines, the expression was significantly higher in MDA-MB-231. Tumoral expression of Del-1 was also significantly associated with a negative expression of estrogen receptor or progesterone receptor, and low expression of Ki-67, particularly in the case of triple-negative breast cancer (TNBC) (p < 0.036). Furthermore, a correlation was found between Del-1 expression and an aggressive histological grade, nuclear mitosis, and polymorphism, suggesting a possible role in tumor progression. In the survival analysis, a worse distant disease-free survival trend was noted for the group overexpressing Del-1. While all the investigated breast cancer cell lines exhibited Del-1 expression, the expression rate and intensity were specifically prominent in TNBC. In addition, based on its relationship to an unfavorable histology and worse survival trend, Del-1 could act as a molecular target in TNBC patients. © 2018 S. Karger AG, Basel.

  6. Forensic applicability of multi-allelic InDels with mononucleotide homopolymer structures.

    PubMed

    Zhang, Shu; Zhu, Qiang; Chen, Xiaogang; Zhao, Yuancun; Zhao, Xiaohong; Yang, Yiwen; Gao, Zehua; Fang, Ting; Wang, Yufang; Zhang, Ji

    2018-04-27

    Insertion/deletion polymorphisms (InDels), which possess the characteristics of low mutation rates and a short amplicon size, have been regarded as promising markers for forensic DNA analysis. InDels can be classified as bi-allelic or multi-allelic, depending on the number of alleles. Many studies have explored the use of bi-allelic InDels in forensic applications, such as individual identification and ancestry inference. However, multi-allelic InDels have received relatively little attention. In this study, InDels with 2-6 alleles and a minor allele frequency ≥0.01, in Chinese Southern Han (CHS), were retrieved from the 1000 Genomes Project Phase III. Based on the structural analysis of all retrieved InDels, 17 multi-allelic markers with mononucleotide homopolymer structures were selected and combined in one multiplex PCR reaction system. Sensitivity, species specificity and applicability in forensic case work of the multiplex were analyzed. A total of 218 unrelated individuals from a Chinese Han population were genotyped. The combined discriminatory power (CDP), the combined match probability (CMP) and the cumulative probability of exclusion (CPE) were 0.9999999999609, 3.91E-13 and 0.9956, respectively. The results demonstrated that this InDel multiplex panel was highly informative in the investigated population and most of the 26 populations of the 1000 Genomes Project. The data also suggested that multi-allelic InDel markers with monomeric base pair expansions are useful for forensic applications. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  7. Design, aerodynamics and autonomy of the DelFly.

    PubMed

    de Croon, G C H E; Groen, M A; De Wagter, C; Remes, B; Ruijsink, R; van Oudheusden, B W

    2012-06-01

    One of the major challenges in robotics is to develop a fly-like robot that can autonomously fly around in unknown environments. In this paper, we discuss the current state of the DelFly project, in which we follow a top-down approach to ever smaller and more autonomous ornithopters. The presented findings concerning the design, aerodynamics and autonomy of the DelFly illustrate some of the properties of the top-down approach, which allows the identification and resolution of issues that also play a role at smaller scales. A parametric variation of the wing stiffener layout produced a 5% more power-efficient wing. An experimental aerodynamic investigation revealed that this could be associated with an improved stiffness of the wing, while further providing evidence of the vortex development during the flap cycle. The presented experiments resulted in an improvement in the generated lift, allowing the inclusion of a yaw rate gyro, pressure sensor and microcontroller onboard the DelFly. The autonomy of the DelFly is expanded by achieving (1) an improved turning logic to obtain better vision-based obstacle avoidance performance in environments with varying texture and (2) successful onboard height control based on the pressure sensor.

  8. Mejoras en la exactitud del reloj de ángulo horario del telescopio de 2,15 mts de CASLEO

    NASA Astrophysics Data System (ADS)

    Aballay, J. L.; Pereyra, P. F.; Marún, A. H.

    Para aumentar la exactitud en el control del ángulo horario del telescopio, se está implementando el uso de un reloj con una precisión de 1/100 seg. En conjunto con el encoder que otorga la posición con un acierto de 0,012 seg. de arco, se podrá implementar otro dígito en el reloj de ángulo horario con la posibilidad de ver las décimas. Esto, sumado a la precisión ya lograda en declinación, permitirá realizar offsets con mayor exactitud.

  9. Case Study: del Amo Bioventing

    EPA Science Inventory

    The attached presentation discusses the fundamentals of bioventing in the vadose zone. The basics of bioventing are presented. The experience to date with the del Amo Superfund Site is presented as a case study.

  10. Percepcion de los profesores universitarios acerca del concepto cultura cientifica y de sus implicaciones en el nuevo bachillerato del Recinto de Rio Piedras de la Universidad de Puerto Rico

    NASA Astrophysics Data System (ADS)

    Ramos Pastrana, Nilsa

    El Senado Academico del Recinto de Rio Piedras de la Universidad de Puerto Rico aprobo en el ano academico 2005-2006 la Certificacion 46, que contiene los lineamientos de un nuevo bachillerato. Este nuevo bachillerato introdujo cambios significativos en el curriculo tradicional. Entre ellos se encuentra la reduccion del componente de educacion general y el de Ciencias Biologicas en particular. La reduccion de creditos en el componente de Ciencias Biologicas ha obligado a reevaluar el concepto de cultura cientifica que desarrollan esos cursos. El proposito del estudio consistio en auscultar las percepciones de los profesores de las Facultades de Administracion de Empresas, Humanidades, Ciencias Sociales, Ciencias Naturales, Educacion y Estudios Generales del Recinto de Rio Piedras de la Universidad de Puerto Rico en torno al concepto de cultura cientifica, los contenidos disciplinares del curso de Ciencias Biologicas y la reduccion de creditos en el nuevo bachillerato. Las preguntas que guiaron la investigacion fueron: ¿cuales son las percepciones que tienen los profesores de las Facultades de Administracion de Empresas, Ciencias Sociales, Estudios Generales, Ciencias Naturales, Humanidades y Educacion, en torno al concepto de cultura cientifica y los contenidos disciplinares del curso de Ciencias Biologicas? ¿cuales son las percepciones que tienen los profesores de Ciencias Biologicas en torno al concepto cultura cientifica y los contenidos disciplinares del curso de Ciencias Biologicas? ¿existen diferencias significativas por facultad, genero, experiencia, rango y nombramiento en las percepciones que tienen los profesores del Recinto de Rio Piedras de la Universidad de Puerto Rico sobre los elementos que caracterizan la cultura cientifica y los contenidos biologicos que deben tener los egresados del Recinto? ¿que implicaciones curriculares tienen estos testimonios en el desarrollo del concepto de cultura cientifica en el nuevo bachillerato? Para realizar la

  11. An evaluation of Delaware's DelTrac program : building an integrated transportation management system

    DOT National Transportation Integrated Search

    2004-06-01

    The DelTrac deployment experience included both successes and unmet challenges. Programmatically, the DelTrac approach to managing ITS has been successful at creating a great deal of integration and cooperation between organizations at DelDOT. Stakeh...

  12. El uso de la neuromodulación para el tratamiento del temblor

    PubMed Central

    Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio

    2014-01-01

    Introducción: El temblor puede ser un desorden incapacitante y el tratamiento de primera línea para estos pacientes es farmacológico. Sin embargo, este tratamiento puede llevar a una reducción satisfactoria del temblor en sólo el 50% de los pacientes con temblor esencial. La talamotomía era el tratamiento de elección para el temblor refractario al tratamiento médico hasta que comenzó a utilizarse la estimulación cerebral profunda (ECP) del núcleo ventral intermedio (Vim) del tálamo. En la actualidad, raramente se realiza la talamotomía. Métodos: Este artículo es una revisión no sistemática de las indicaciones, resultados, parámetros de programación y técnica quirúrgica de la ECP del Vim para el tratamiento del temblor. Resultados: Aunque los resultados clínicos son similares usando la talamotomía o la ECP del Vim, la primera causa más efectos adversos que la última. Además, la ECP puede ser usada bilateralmente, mientras que la talamotomía tiene un alto riesgo de causar disartria cuando se realiza de ambos lados. La ECP del Vim logró una adecuada mejoría del temblor en varias series de pacientes con temblor causado por temblor esencial, enfermedad de Parkinson o esclerosis múltiple. Además del Vim, hay otros blancos que están siendo usados por varios autores, tales como la zona incerta y las radiaciones prelemniscales. Conclusión: La ECP del Vim es un tratamiento útil para el temblor incapacitante refractario al tratamiento médico. Es esencial realizar una precisa selección de pacientes, así como utilizar una técnica quirúrgica correcta. Aún se desconoce el mejor blanco estereotáctico para el temblor, aunque el Vim es el más usado. PMID:25165613

  13. Modern foraminiferal facies in a subtropical estuarine channel, Bertioga, São Paulo, Brazil

    USGS Publications Warehouse

    Eichler, P.P.B.; Eichler, B.B.; De Miranda, L. B.; Rodrigues, A.R.

    2007-01-01

    Numerical analyses of modern foraminiferal abundance and environmental data from the Bertioga Channel (Sa??o Paulo, Brazil) reveal multiple biofacies within an overall paralic setting. Despite its fisheries, mariculture and attraction to tourists, the environmental state of Bertioga Channel remains poorly studied. The present investigation is an attempt to partly fill this gap; the parameters examined include depth, salinity, temperature, organic carbon, sulfur content and bottom sediment type. Muddy sediments with high organic carbon content derived from land drainage are found in the inner parts of the channel, whereas sandy sediment dominates the areas adjacent to the Atlantic Ocean. In the eastern entrance to the channel, sandy sediment contain species of Rotaliida from Facies 1 (including Elphidium discoidale, Elphidium poeyanum, Hanzawaia boueana, Pararotalia cananeiaensis and Nonionella atlantica), reflecting normal marine salinity. Sediments with high percentages of silt and clay in polyhaline and eurybaline environments of the eastern part and Itapanhau?? River contain Facies 2, which includes Ammonia beccarii and Pararotalia cananeiaensis. In the western entrance and central, western and eastern parts, where salinities vary from 18 to 30 psu and the sediments contain both low and high organic carbon, the foraminifera from Facies 3 are dominated by Quinqueloculina milletti, Arenoparrella mexicana, Pararotalia cananeiaensis, Ammonia beccarii, Buliminella elegantissima, Elphidium sp., Elphidium excavatum, Elphidium gunteri and Elphidium poeyanum. In mesohaline and polyhaline waters of the central part, the organic-carbon-rich silt and clay contain Facies 4, which includes Ammonia beccarii, Pararotalia cananeiaensis, Elphidium excavatum and Elphidium sp. Most of organic-carbon-enriched, silty-clay substrates that are subject to the highest fresh-water discharge and high bottom temperatures support two different assemblages: one of mostly Rotaliina and the

  14. CHEK2 1100delC and male breast cancer in the Netherlands.

    PubMed

    Wasielewski, Marijke; den Bakker, Michael A; van den Ouweland, Ans; Meijer-van Gelder, Marion E; Portengen, Henk; Klijn, Jan G M; Meijers-Heijboer, Hanne; Foekens, John A; Schutte, Mieke

    2009-07-01

    Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.

  15. Field measurements of del13C in ecosystem respiration

    NASA Astrophysics Data System (ADS)

    van Asperen, Hella; Sabbatini, Simone; Nicolini, Giacomo; Warneke, Thorsten; Papale, Dario; Notholt, Justus

    2014-05-01

    Stable carbon isotope del13C-measurements are extensively used to study ecological and biogeochemical processes in ecosystems. Above terrestrial ecosystems, atmospheric del13C can vary largely due to photosynthetic fractionation. Photosynthetic processes prefer the uptake of the lighter isotope 12C (in CO2), thereby enriching the atmosphere in 13C and depleting the ecosystem carbon. At night, when ecosystem respiratory fluxes are dominant, 13C-depleted CO2 is respired and thereby depletes the atmospheric del13C-content. Different ecosystems and different parts of one ecosystem (type of plant, leaves, and roots) fractionate and respire with a different del13C-ratio signature. By determining the del13C-signature of ecosystem respiration in temporal and spatial scale, an analysis can be made of the composition of respiratory sources of the ecosystem. A field study at a dry cropland after harvest (province of Viterbo, Lazio, Italy) was performed in the summer of 2013. A FTIR (Fourier Transform Infrared Spectrometer) was set up to continuously measure CO2-, CH4-, N2O-, CO- and del13C-concentrations. The FTIR was connected to 2 different flux measurements systems: a Flux Gradient system (sampling every half hour at 1.3m and 4.2m) and 2 flux chambers (measured every hour), providing a continuous data set of the biosphere-atmosphere gas fluxes and of the gas concentrations at different heights. Keeling plot intercept values of respiratory CO2, measured by the Flux Gradient system at night, were determined to be between -25‰ and -20‰. Keeling plot intercept values of respiratory CO2, measured by the flux chamber system, varied between -24‰ and -29‰, and showed a clear diurnal pattern, suggesting different (dominant) respiratory processes between day and night.

  16. [Strengths and future of the Revista Médica del Instituto Mexicano del Seguro Social].

    PubMed

    Fajardo-Dolci, Germán

    2014-01-01

    The journals of medicine arose as a communication tool more than 200 years ago. At the beginning, their nature was local; later, their aim was to spread medical information along the nation; and, finally, they sought to reach the world distribution. The Revista Médica del Instituto Mexicano del Seguro Social was published for the first time 52 years ago, and it has walked its way from local to international distribution. This journal has 23 000 subscribers, it is included in Medline and it reached a 0.112 SCImago Journal Rank in 2012. Its website receives around 200 000 visits monthly and 45 % are foreign visits. In the future, the peer review system is going to be strengthened, and the journal is going to offer audio, video, and applications to reinforce interactive participation between authors, readers in order to reach modernity and draw young new attention.

  17. Pastoral del Nino: Bringing the Abundant Life to Paraguayan Children

    ERIC Educational Resources Information Center

    Austin, Ann Berghout; Aquino, Cyle; Burro, Elizabeth

    2007-01-01

    Pastoral del Nino is transforming children's lives in rural Paraguay. Part of Pastoral Social (Catholic Social Services), Pastoral del Nino's primary focus is to bring "vida en abundancia" (the abundant life) to families by ensuring that mothers survive childbirth and children reach their first birthdays. In addition, the organization…

  18. Genetic and Epigenetic Differences in Monozygotic Twins with NF1

    DTIC Science & Technology

    2011-10-01

    second hit event as a likely etiology for these tumors. Three pairs of twins were discordant for scoliosis , and one pair was concordant for scoliosis ...have included: plexiform neurofibromas (number and location), scoliosis , and malignancy (MPNST). Correlation between CNVs and clinical phenotype will...D E Age (years) 18 10 9 6 5 Gender F F F F F CAL#s Cut. NF Lisch Plexiform# OPG T2 Hyperint Scoliosis Pectus MPNST MR LD Speech ADHD

  19. Perk Ablation Ameliorates Myelination in S63del-Charcot–Marie–Tooth 1B Neuropathy

    PubMed Central

    Musner, Nicolò; Sidoli, Mariapaola; Zambroni, Desireè; Del Carro, Ubaldo; Ungaro, Daniela; D’Antonio, Maurizio; Feltri, Maria L.

    2016-01-01

    In peripheral nerves, P0 glycoprotein accounts for more than 20% of myelin protein content. P0 is synthesized by Schwann cells, processed in the endoplasmic reticulum (ER) and enters the secretory pathway. However, the mutant P0 with S63 deleted (P0S63del) accumulates in the ER lumen and induces a demyelinating neuropathy in Charcot–Marie–Tooth disease type 1B (CMT1B)–S63del mice. Accumulation of P0S63del in the ER triggers a persistent unfolded protein response. Protein kinase RNA-like endoplasmic reticulum kinase (PERK) is an ER stress sensor that phosphorylates eukaryotic initiation factor 2 alpha (eIF2alpha) in order to attenuate protein synthesis. We have shown that increasing phosphophorylated-eIF2alpha (P-eIF2alpha) is a potent therapeutic strategy, improving myelination and motor function in S63del mice. Here, we explore the converse experiment: Perk haploinsufficiency reduces P-eIF2alpha in S63del nerves as expected, but surprisingly, ameliorates, rather than worsens S63del neuropathy. Motor performance and myelin abnormalities improved in S63del//Perk+/− compared with S63del mice. These data suggest that mechanisms other than protein translation might be involved in CMT1B/S63del neuropathy. In addition, Perk deficiency in other cells may contribute to demyelination in a non–Schwann-cell autonomous manner. PMID:27095827

  20. Chest Wall Constriction after the Nuss Procedure Identified from Chest Radiograph and Multislice Computed Tomography Shortly after Removal of the Bar.

    PubMed

    Chang, Pei-Yeh; Zeng, Qi; Wong, Kin-Sun; Wang, Chao-Jan; Chang, Chee-Jen

    2016-01-01

    This study radiographically examined the changes in the chest walls of patients with pectus excavatum (PE) after Nuss bar removal, to define the deformation caused by the bar and stabilizer. In the first part of the study, we compared the changes in chest radiographs of patients with PE to a preoperation PE control group. In the second part, we used multislice computed tomography (CT) scans to provide three-dimensional reconstructions with which to evaluate the changes to the thoracic wall. Part 1 From June 2006 to August 2011, 1,125 patients with PE who had posteroanterior chest radiographs taken before undergoing the Nuss procedure at four hospitals were enrolled as a preoperative control group. At the same time, 203 patients who had the bar removed were enrolled as the study group. The maximum dimensions of the outer boundary of the first to ninth rib pairs (R1-R9, rib pair width), chest height, and chest width were measured. Part 2 Thirty-one consecutive patients with PE (20 males and 11 females) who underwent Nuss bar removal were evaluated 7 to 30 days after operation. During this period, a further 34 patients with PE who had undergone CT imaging before bar insertion were evaluated and compared with the postoperative group. Part 1 The width of the lower ribs (R4-R9) after bar removal was significantly less than in the age-matched controls. The ribs adjacent to the bar (R5-R7) showed the greatest restriction. The width of the upper ribs (R1-R3) 2 to 3 years after bar placement did not differ significantly from the controls. Patients who were operated on after 10 years of age had less of a restrictive effect. Three years of bar placement resulted in more restriction than a 2-year period, particularly in patients younger than 10 years old. Part 2: A significant constriction of the chest wall was observed in 13 patients after removal of the Nuss bar. Constriction at ribs 5 to 8 was found to be present adjacent to the site of bar insertion. However

  1. An evaluation of data for 10 children born to mothers who attempted suicide by taking large doses of alprazolam during pregnancy.

    PubMed

    Gidai, J; Acs, N; Bánhidy, F; Czeizel, A E

    2008-01-01

    FDA has identified alprazolam, a new type of benzodiazepine, as pregnancy category D. The objective of this study was to evaluate the effects on fetal development of very large doses of alprazolam that were used for suicide attempts during pregnancy. Pregnant women were identified among the patients of the Department of Toxicology Internal Medicine, Korányi Hospital, Budapest, who were admitted as self-poisoned subjects from a total population of the three million people of Budapest and its surrounding region. Rates of congenital abnormalities, intrauterine fetal development, and cognitive-behavioral status were compared between children born to mothers who attempted suicide during pregnancy using alprazolam alone or in combination with other drugs and in their sib controls. Between 1984 and 1993, 559 pregnant women attempted suicide during pregnancy with drugs: 30 of these women self-poisoned with alprazolam, 10 delivered live-born infants who were examined. Doses of alprazolam used were between 7.5 and 100 mg, with a mean of 30 mg. Six of the 10 exposed children were born to mothers who attempted suicide between the 6th and 12th postconceptional weeks. Of the 10 exposed children, two had congenital abnormalities. One had a multiple congenital abnormality that included atypical gastroschisis and minor anomalies; an association of this defect and the 30 mg alprazolam used for self-poisoning in the 14th postconceptional week cannot be excluded. Another exposed child had mild pectus excavatum, but the times of the suicide attempt and the critical period for producing this defect did not overlap. Of 12 sibs, one had a multiple congenital abnormality. Thus, the rate of congenital abnormalities did not significantly differ between exposed children and their sibs. Mean birth weight was higher for babies born to mothers who attempted suicide by alprazolam during pregnancy than in their sib controls. Cognitive status and behavioral scale of the exposed children did not

  2. Multiplex pyrosequencing of InDel markers for forensic DNA analysis.

    PubMed

    Bus, Magdalena M; Karas, Ognjen; Allen, Marie

    2016-12-01

    The capillary electrophoresis (CE) technology is commonly used for fragment length separation of markers in forensic DNA analysis. In this study, pyrosequencing technology was used as an alternative and rapid tool for the analysis of biallelic InDel (insertion/deletion) markers for individual identification. The DNA typing is based on a subset of the InDel markers that are included in the Investigator ® DIPplex Kit, which are sequenced in a multiplex pyrosequencing analysis. To facilitate the analysis of degraded DNA, the polymerase chain reaction (PCR) fragments were kept short in the primer design. Samples from individuals of Swedish origin were genotyped using the pyrosequencing strategy and analysis of the Investigator ® DIPplex markers with CE. A comparison between the pyrosequencing and CE data revealed concordant results demonstrating a robust and correct genotyping by pyrosequencing. Using optimal marker combination and a directed dispensation strategy, five markers could be multiplexed and analyzed simultaneously. In this proof-of-principle study, we demonstrate that multiplex InDel pyrosequencing analysis is possible. However, further studies on degraded samples, lower DNA quantities, and mixtures will be required to fully optimize InDel analysis by pyrosequencing for forensic applications. Overall, although CE analysis is implemented in most forensic laboratories, multiplex InDel pyrosequencing offers a cost-effective alternative for some applications. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  3. [Trattamento del disturbo da uso di alcol da un punto di vista psicologico].

    PubMed

    Coriale, Giovanna; Fiorentino, Daniela; De Rosa, Francesca; Solombrino, Simona; Scalese, Bruna; Ciccarelli, Rosaria; Attilia, Fabio; Vitali, Mario; Musetti, Alessia; Fiore, Marco; Ceccanti, Mauro

    2018-01-01

    RIASSUNTO. L'elaborazione del piano di trattamento rappresenta un momento molto delicato e complesso del processo terapeutico del disturbo da abuso di alcol (DUA). È la fase in cui le informazioni raccolte da un'équipe di professionisti (medici, psicologi e assistenti sociali) (modello bio-psico-sociale del DUA) vengono messe insieme per decidere il percorso terapeutico più adatto. Per quanto riguarda la parte psicologica, è di notevole importanza scegliere un trattamento clinico in grado di ridurre al minimo la mancata adesione al trattamento e, per i soggetti che rimangono in trattamento, di garantirne l'efficacia. Se da una parte, le tecniche psicoanalitiche e comportamentali hanno fornito le basi della terapia psicologica dell'alcolismo, dall'altra, gli approcci basati sull'evidenza scientifica sono stati elaborati a partire dai principi del colloquio motivazionale e della terapia cognitivo-comportamentale. In questo articolo viene fornita una panoramica dei trattamenti che sono risultati più efficaci nel trattare il DUA e delle modalità temporali più adeguate per monitorare l'efficacia del trattamento.

  4. Multi-InDel Analysis for Ancestry Inference of Sub-Populations in China

    PubMed Central

    Sun, Kuan; Ye, Yi; Luo, Tao; Hou, Yiping

    2016-01-01

    Ancestry inference is of great interest in diverse areas of scientific researches, including the forensic biology, medical genetics and anthropology. Various methods have been published for distinguishing populations. However, few reports refer to sub-populations (like ethnic groups) within Asian populations for the limitation of markers. Several InDel loci located very tightly in physical positions were treated as one marker by us, which is multi-InDel. The multi-InDel shows potential as Ancestry Inference Marker (AIM). In this study, we performed a genome-wide scan for multi-InDels as AIM. After examining the FST distributions in the 1000 Genomes Database, 12 candidates were selected and validated for eastern Asian populations. A multiplexed assay was developed as a panel to genotype 12 multi-InDel markers simultaneously. Ancestry component analysis with STRUCTURE and principal component analysis (PCA) were employed to estimate its capability for ancestry inference. Furthermore, ancestry assignments of trial individuals were conducted. It proved to be very effective when 210 samples from Han and Tibetan individuals in China were tested. The panel consisting of multi-InDel markers exhibited considerable potency in ancestry inference, and was suggested to be applied in forensic practices and genetic population studies. PMID:28004788

  5. Observaciones del CH interestelar y el continuo en 3,3 GHz

    NASA Astrophysics Data System (ADS)

    Olano, C. A.; Combi, J. A.; Pöppel, W.; Benaglia, P.; Sanz, A. J.; Bava, J. A.

    Se informa sobre el proyecto que se lleva a cabo en el IAR con el propósito de observar las líneas hiperfinas del estado fundamental del CH y el continuo en la banda de 3,3 GHz. El nuevo receptor construído en nuestro laboratorio para tal fin se instaló sobre uno de los radiotelescopios, funcionando conjuntamente con los sistemas de procesamiento actuales del IAR. Los resultados de las primeras observaciones, realizadas tanto en las líneas espectrales como en el continuo sobre fuentes conocidas, fueron satisfactorios.

  6. Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.

    PubMed

    Muranen, Taru A; Greco, Dario; Blomqvist, Carl; Aittomäki, Kristiina; Khan, Sofia; Hogervorst, Frans; Verhoef, Senno; Pharoah, Paul D P; Dunning, Alison M; Shah, Mitul; Luben, Robert; Bojesen, Stig E; Nordestgaard, Børge G; Schoemaker, Minouk; Swerdlow, Anthony; García-Closas, Montserrat; Figueroa, Jonine; Dörk, Thilo; Bogdanova, Natalia V; Hall, Per; Li, Jingmei; Khusnutdinova, Elza; Bermisheva, Marina; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Investigators, Nbcs; Peto, Julian; Dos Santos Silva, Isabel; Couch, Fergus J; Olson, Janet E; Hillemans, Peter; Park-Simon, Tjoung-Won; Brauch, Hiltrud; Hamann, Ute; Burwinkel, Barbara; Marme, Frederik; Meindl, Alfons; Schmutzler, Rita K; Cox, Angela; Cross, Simon S; Sawyer, Elinor J; Tomlinson, Ian; Lambrechts, Diether; Moisse, Matthieu; Lindblom, Annika; Margolin, Sara; Hollestelle, Antoinette; Martens, John W M; Fasching, Peter A; Beckmann, Matthias W; Andrulis, Irene L; Knight, Julia A; Investigators, kConFab/Aocs; Anton-Culver, Hoda; Ziogas, Argyrios; Giles, Graham G; Milne, Roger L; Brenner, Hermann; Arndt, Volker; Mannermaa, Arto; Kosma, Veli-Matti; Chang-Claude, Jenny; Rudolph, Anja; Devilee, Peter; Seynaeve, Caroline; Hopper, John L; Southey, Melissa C; John, Esther M; Whittemore, Alice S; Bolla, Manjeet K; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Easton, Douglas F; Schmidt, Marjanka K; Nevanlinna, Heli

    2017-05-01

    CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction. The PRS conferred odds ratios (OR) of 1.59 (95% CI: 1.21-2.09) per standard deviation for BC for CHEK2*1100delC carriers and 1.58 (1.55-1.62) for noncarriers. No evidence of deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 (0.86-4.78) for CHEK2*1100delC carriers, placing them in the high risk category according to UK NICE guidelines. The OR for the lowest quintile was 0.52 (0.16-1.74), indicating a lifetime risk close to the population average. Our results confirm the multiplicative nature of risk effects conferred by CHEK2*1100delC and the common susceptibility variants. Furthermore, the PRS could identify carriers at a high lifetime risk for clinical actions.Genet Med advance online publication 06 October 2016.

  7. The Cuernos del Paine mountains in Torres del Paine National Park, Chile, during NASA's AirSAR 2004 campaign

    NASA Image and Video Library

    2004-03-11

    The Cuernos del Paine mountains in Torres del Paine National Park, Chile, during NASA's AirSAR 2004 campaign. AirSAR 2004 is a three-week expedition in Central and South America by an international team of scientists that is using an all-weather imaging tool, called the Airborne Synthetic Aperture Radar (AirSAR), located onboard NASA's DC-8 airborne laboratory. Scientists from many parts of the world are combining ground research with NASA's AirSAR technology to improve and expand on the quality of research they are able to conduct. Founded in 1959, Torres del Paine National Park encompasses 450,000 acres in the Patagonia region of Chile. This region is being studied by NASA using a DC-8 equipped with an Airborne Synthetic Aperture Radar (AirSAR) developed by scientists from NASA’s Jet Propulsion Laboratory. This is a very sensitive region that is important to scientists because the temperature has been consistently rising causing a subsequent melting of the region’s glaciers. AirSAR will provide a baseline model and unprecedented mapping of the region. This data will make it possible to determine whether the warming trend is slowing, continuing or accelerating. AirSAR will also provide reliable information on ice shelf thickness to measure the contribution of the glaciers to sea level.

  8. Modelo semi-empírico de protuberancia solar a partir del diagnóstico de densidades

    NASA Astrophysics Data System (ADS)

    Cirigliano, D.; Vial, J. C.; Rovira, M.

    A partir de la observación del espectro del quintuplete de C III alrededor de 1175 Å, se ha realizado el diagnóstico de la densidad y presión electrónica, basado en el cálculo del cociente de las intensidades observadas. Una vez establecida la densidad electrónica, y con el cálculo de las velocidades Doppler, hemos investigado el flujo de masa en la protuberancia en función de la temperatura. Estableciendo como hipótesis la conservación del número de partículas que ingresan y salen del cuerpo de la protuberancia, se investiga la variación del área de un tubo de flujo semi-empírico en función de la temperatura. A partir de dicho diagnóstico, se examina el comportamiento del radio del tubo magnético en función de la temperatura, los que dan cuenta de la abertura de las líneas de campo magnético que confinan el plasma y de la divergencia del campo magnético en diferentes alturas de la atmósfera solar.

  9. Uso Del Condón en Adolescentes Nahuas, un Modelo Explicativo.

    PubMed

    Tirado, María de Los Ángeles Meneses; Benavides-Torres, Raquel A; Navarro, Sergio Meneses; de la Colina, Juan Antonio Doncel; Rodríguez, Dora Julia Onofre; Hernández, Francisco Javier Baéz

    2018-03-01

    En México, la población indígena supera los siete millones de habitantes, en Puebla el grupo más representativo es el Náhuatl. Sin embargo, las condiciones de vida, salud, educación y transporte son precarias para esta población. En los adolescentes, las responsabilidades como el matrimonio, la familia y los compromisos ante la comunidad, favorecen conductas de riesgo sexual que dificultan su desarrollo económico, social y reproductivo. El objetivo fue proponer un modelo explicativo del uso del condón en adolescentes nahuas. Método. Bajo el marco de la teoría social cognitiva, el concepto de valores culturales de Leininger y el proceso de la sustracción teórica, se desarrolló este artículo. Se muestran las relaciones del modelo con las proposiciones y los factores que influyen en el uso del condón para este grupo específico. Finalmente, el modelo explica las variables de interés, los niveles de abstracción y las relaciones entre sí en el contexto náhuatl. El siguiente paso será implementar los indicadores empíricos para conocer el grado de influencia de los factores personales y ambientales hacia el uso del condón en adolescentes nahuas. Resultados que aportarán información para el desarrollo del conocimiento en enfermería y la reducción de riesgo sexual de esta población.

  10. Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.

    PubMed

    Muranen, Taru A; Greco, Dario; Fagerholm, Rainer; Kilpivaara, Outi; Kämpjärvi, Kati; Aittomäki, Kristiina; Blomqvist, Carl; Heikkilä, Päivi; Borg, Ake; Nevanlinna, Heli

    2011-09-20

    Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. In total, 126 breast tumor tissue specimens including 32 samples from patients carrying CHEK2 1100delC were studied in array-comparative genomic hybridization (aCGH) and gene-expression (GEX) experiments. After dimensionality reduction with CGHregions R package, CHEK2 1100delC-associated regions in the aCGH data were detected by the Wilcoxon rank-sum test. The linear model was fitted to GEX data with R package limma. Genes whose expression levels were associated with CHEK2 1100delC mutation were detected by the bayesian method. We discovered four lost and three gained CHEK2 1100delC-related loci. These include losses of 1p13.3-31.3, 8p21.1-2, 8p23.1-2, and 17p12-13.1 as well as gains of 12q13.11-3, 16p13.3, and 19p13.3. Twenty-eight genes located on these regions showed differential expression between CHEK2 1100delC and other tumors, nominating them as candidates for CHEK2 1100delC-associated tumor-progression drivers. These included CLCA1 on 1p22 as well as CALCOCO1, SBEM, and LRP1 on 12q13. Altogether, 188 genes were differentially expressed between CHEK2 1100delC and other tumors. Of these, 144 had elevated and 44, reduced expression levels.Our results suggest the WNT pathway as a driver of tumorigenesis in breast tumors of CHEK2 1100delC-mutation carriers and a role for the olfactory receptor protein family in cancer progression. Differences in the expression of the 188 CHEK2 1100delC-associated genes divided breast tumor samples from three independent datasets into two groups that differed in their relapse-free survival time. We have shown that copy-number aberrations of certain genomic regions are associated with CHEK2 mutation 1100delC. On these regions, we identified

  11. Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications

    PubMed Central

    2011-01-01

    Introduction Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. Methods In total, 126 breast tumor tissue specimens including 32 samples from patients carrying CHEK2 1100delC were studied in array-comparative genomic hybridization (aCGH) and gene-expression (GEX) experiments. After dimensionality reduction with CGHregions R package, CHEK2 1100delC-associated regions in the aCGH data were detected by the Wilcoxon rank-sum test. The linear model was fitted to GEX data with R package limma. Genes whose expression levels were associated with CHEK2 1100delC mutation were detected by the bayesian method. Results We discovered four lost and three gained CHEK2 1100delC-related loci. These include losses of 1p13.3-31.3, 8p21.1-2, 8p23.1-2, and 17p12-13.1 as well as gains of 12q13.11-3, 16p13.3, and 19p13.3. Twenty-eight genes located on these regions showed differential expression between CHEK2 1100delC and other tumors, nominating them as candidates for CHEK2 1100delC-associated tumor-progression drivers. These included CLCA1 on 1p22 as well as CALCOCO1, SBEM, and LRP1 on 12q13. Altogether, 188 genes were differentially expressed between CHEK2 1100delC and other tumors. Of these, 144 had elevated and 44, reduced expression levels. Our results suggest the WNT pathway as a driver of tumorigenesis in breast tumors of CHEK2 1100delC-mutation carriers and a role for the olfactory receptor protein family in cancer progression. Differences in the expression of the 188 CHEK2 1100delC-associated genes divided breast tumor samples from three independent datasets into two groups that differed in their relapse-free survival time. Conclusions We have shown that copy-number aberrations of certain genomic regions are associated with CHEK2 mutation

  12. Max Brödel: his art, legacy, and contributions to neurosurgery through medical illustration.

    PubMed

    Patel, Smruti K; Couldwell, William T; Liu, James K

    2011-07-01

    Max Brödel is considered the father of modern medical illustration. This report reviews his contributions to neurosurgery as a medical illustrator. Max Brödel, a young artist from Leipzig, Germany, was hired at Johns Hopkins Hospital in 1894, where he illustrated an operative textbook of gynecology for Howard A. Kelly. Although Brödel did not have any formal medical training, he quickly acquired knowledge of anatomy, pathology, physiology, and surgery. Brödel's extraordinary illustrations were characterized by an aerial perspective that conveyed the surgeon's operative viewpoint and precise surgical anatomy. He masterfully incorporated tissue realism with cross-sectional anatomy to accentuate concepts while maintaining topographical accuracy. Brödel's reputation spread quickly and resulted in collaborations with prominent surgeons, such as Cushing, Halsted, and Dandy. Cushing, who also possessed artistic talent, became a pupil of Brödel and remained a very close friend. In 1911, Brödel was appointed the director of the Department of Art as Applied to Medicine at Johns Hopkins, the first academic department of its kind in the world. For the next several decades, he trained generations of renowned medical illustrators. Just as Osler, Halsted, and Cushing passed their skills and knowledge to future leaders of medicine and surgery, Brödel did the same for the field of medical illustration. The advancement of neurosurgical education has been greatly facilitated by Max Brödel's artistic contributions. His unique ability to synthesize art and medicine resulted in timeless illustrations that remain indispensable to surgeons. The art produced by his legacy of illustrators continues to flourish in neurosurgical literature today.

  13. Genetic modifiers of CHEK2*1100delC associated breast cancer risk

    PubMed Central

    Muranen, Taru A.; Greco, Dario; Blomqvist, Carl; Aittomäki, Kristiina; Khan, Sofia; Hogervorst, Frans; Verhoef, Senno; Pharoah, Paul D.P.; Dunning, Alison M.; Shah, Mitul; Luben, Robert; Bojesen, Stig E.; Nordestgaard, Børge G.; Schoemaker, Minouk; Swerdlow, Anthony; García-Closas, Montserrat; Figueroa, Jonine; Dörk, Thilo; Bogdanova, Natalia V.; Hall, Per; Li, Jingmei; Khusnutdinova, Elza; Bermisheva, Marina; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Peto, Julian; dos Santos Silva, Isabel; Couch, Fergus J.; Olson, Janet E.; Hillemans, Peter; Park-Simon, Tjoung-Won; Brauch, Hiltrud; Hamann, Ute; Burwinkel, Barbara; Marme, Frederik; Meindl, Alfons; Schmutzler, Rita K.; Cox, Angela; Cross, Simon S.; Sawyer, Elinor J.; Tomlinson, Ian; Lambrechts, Diether; Moisse, Matthieu; Lindblom, Annika; Margolin, Sara; Hollestelle, Antoinette; Martens, John W.M.; Fasching, Peter A.; Beckmann, Matthias W.; Andrulis, Irene L.; Knight, Julia A.; Anton-Culver, Hoda; Ziogas, Argyrios; Giles, Graham G.; Milne, Roger L.; Brenner, Hermann; Arndt, Volker; Mannermaa, Arto; Kosma, Veli-Matti; Chang-Claude, Jenny; Rudolph, Anja; Devilee, Peter; Seynaeve, Caroline; Hopper, John L.; Southey, Melissa C.; John, Esther M.; Whittemore, Alice S.; Bolla, Manjeet K.; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Easton, Douglas F.; Schmidt, Marjanka K.; Nevanlinna, Heli

    2016-01-01

    Purpose CHEK2*1100delC is a founder variant in European populations conferring a 2–3 fold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). Methods With genotype data of 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction. Results The PRS conferred an odds ratio (OR) of 1.59 [95% CI 1.21–2.09] per standard deviation for BC for CHEK2*1100delC carriers and 1.58 [1.55–1.62] for non-carriers. No evidence for deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 [0.86–4.78] for CHEK2*1100delC carriers placing them to the high risk category according to UK NICE guidelines. OR for the lowest quintile was 0.52 [0.16–1.74], indicating life-time risk close to population average. Conclusion Our results confirm the multiplicative nature of risk effects conferred by CHEK2*1100delC and the common susceptibility variants. Furthermore, the PRS could identify the carriers at a high life-time risk for clinical actions. PMID:27711073

  14. del metrics with chronology protection in Horndeski gravities

    NASA Astrophysics Data System (ADS)

    Geng, Wei-Jian; Li, Shou-Long; Lü, H.; Wei, Hao

    2018-05-01

    del universe, one of the most interesting exact solutions predicted by General Relativity, describes a homogeneous rotating universe containing naked closed time-like curves (CTCs). It was shown that such CTCs are the consequence of the null energy condition in General Relativity. In this paper, we show that the Gödel-type metrics with chronology protection can emerge in Einstein-Horndeski gravity. We construct such exact solutions also in Einstein-Horndeski-Maxwell and Einstein-Horndeski-Proca theories.

  15. Estrategia innovadora enfocada en parejas del mismo sexo para disminuir la infección del VIH en hombres Latinos

    PubMed Central

    Martinez, Omar; Wu, Elwin; Sandfort, Theo; Shultz, Andrew Z.; Capote, Jonathan; Chávez, Silvia; Moya, Eva; Dodge, Brian; Morales, Gabriel; Porras, Antonio; Ovejero, Hugo

    2014-01-01

    Resumen El VIH es un problema de salud importante dentro de la comunidad latina de los Estados Unidos. Gracias a los esfuerzos de prevención, los niveles de contagio entre los latinos se han mantenido estables por más de una década. Sin embargo, esta población sigue siendo afectada a niveles muy altos, en particular entre hombres que tienen sexo con hombres (HSH), de origen latino y que hablan principalmente el idioma español. Existen varios factores que contribuyen a la transmisión del VIH entre esta población, como son: el uso de drogas; la violencia dentro de la pareja; la presencia de infecciones de transmisión sexual; relaciones sexuales sin protección, dentro y fuera de la pareja; el evadir la búsqueda de recursos (prueba y tratamiento adecuado) por temor a ser discriminado o por su estatus migratorio; la escasez de recursos económicos o estado de pobreza y los patrones relacionados a la migración. En particular, Investigaciones Epidemiológicas de Comportamientos han determinado: cómo algunas dinámicas en parejas están directamente asociadas a los comportamientos sexuales de riesgos. En consecuencia, es necesaria mayor investigación para identificar esas dinámicas, y a su vez, realizar intervenciones dirigidas a la reducción de conductas de riesgo enfocadas en parejas de hombres del mismo sexo. En este escrito, se describe la importancia del uso de las relaciones de pareja como estrategia en la reducción de la trasmisión del VIH/SIDA en HSH de origen latino y que hablan principalmente el idioma español en los Estados Unidos. PMID:25580466

  16. Determinacion de Caracteristicas Opticas del Telescopio OAN150

    NASA Astrophysics Data System (ADS)

    Galan, M. J.; Cobos, F. J.

    1987-05-01

    En el Observatorio de Calar Alto, en Almería, España, está ubicado un telescopio de 15O-cms de diámetro -construído por REOSC- perteneciente al Observatorio Astronómico Nacional, con sede en Madrid, España. La infraestructura técnica del OAN ha sido tradicionalmente débil y actualmente se está haciendo un esfuerzo por fortalecerla. Existe una información muy limitada del telescopio en general; de su óptica en particular se conocían los valores de los parámetros principales pero sin saber si éstos corresponden a valores teóricos ó de construcción. Por ello se consideró necesario iniciar una investigación para conocer en detalle los valores reales de las componentes ópticas del telescopio, obteniéndose algunos resultados de interés. El primario del telescopio OANl5O es aproximadamente F/3 y el siste ma en su conjunto es F/8.2, con su sistema corrector de campo. En términos generales, la imagen es satisfactoria en todo el campo y, sin sistema corrector, la imagen axial también es buena. En un futuro muy cercano se piensa diseñar instrumentación adicional para este telescopio. Conocer con mayor precisión sus características puede ser de gran utilidad para tal fin, pues se efectúan los cálculos considerando conjuntamente al telescopio y al instrumento.

  17. Pseudomonas aeruginosa Reduces VX-809 Stimulated F508del-CFTR Chloride Secretion by Airway Epithelial Cells

    PubMed Central

    Stanton, Bruce A.; Coutermarsh, Bonita; Barnaby, Roxanna; Hogan, Deborah

    2015-01-01

    Background P. aeruginosa is an opportunistic pathogen that chronically infects the lungs of 85% of adult patients with Cystic Fibrosis (CF). Previously, we demonstrated that P. aeruginosa reduced wt-CFTR Cl secretion by airway epithelial cells. Recently, a new investigational drug VX-809 has been shown to increase F508del-CFTR Cl secretion in human bronchial epithelial (HBE) cells, and, in combination with VX-770, to increase FEV1 (forced expiratory volume in 1 second) by an average of 3-5% in CF patients homozygous for the F508del-CFTR mutation. We propose that P. aeruginosa infection of CF lungs reduces VX-809 + VX-770- stimulated F508del-CFTR Cl secretion, and thereby reduces the clinical efficacy of VX-809 + VX-770. Methods and Results F508del-CFBE cells and primary cultures of CF-HBE cells (F508del/F508del) were exposed to VX-809 alone or a combination of VX-809 + VX-770 for 48 hours and the effect of P. aeruginosa on F508del-CFTR Cl secretion was measured in Ussing chambers. The effect of VX-809 on F508del-CFTR abundance was measured by cell surface biotinylation and western blot analysis. PAO1, PA14, PAK and 6 clinical isolates of P. aeruginosa (3 mucoid and 3 non-mucoid) significantly reduced drug stimulated F508del-CFTR Cl secretion, and plasma membrane F508del-CFTR. Conclusion The observation that P. aeruginosa reduces VX-809 and VX-809 + VX-770 stimulated F508del CFTR Cl secretion may explain, in part, why VX-809 + VX-770 has modest efficacy in clinical trials. PMID:26018799

  18. Pseudomonas aeruginosa Reduces VX-809 Stimulated F508del-CFTR Chloride Secretion by Airway Epithelial Cells.

    PubMed

    Stanton, Bruce A; Coutermarsh, Bonita; Barnaby, Roxanna; Hogan, Deborah

    2015-01-01

    P. aeruginosa is an opportunistic pathogen that chronically infects the lungs of 85% of adult patients with Cystic Fibrosis (CF). Previously, we demonstrated that P. aeruginosa reduced wt-CFTR Cl secretion by airway epithelial cells. Recently, a new investigational drug VX-809 has been shown to increase F508del-CFTR Cl secretion in human bronchial epithelial (HBE) cells, and, in combination with VX-770, to increase FEV1 (forced expiratory volume in 1 second) by an average of 3-5% in CF patients homozygous for the F508del-CFTR mutation. We propose that P. aeruginosa infection of CF lungs reduces VX-809 + VX-770- stimulated F508del-CFTR Cl secretion, and thereby reduces the clinical efficacy of VX-809 + VX-770. F508del-CFBE cells and primary cultures of CF-HBE cells (F508del/F508del) were exposed to VX-809 alone or a combination of VX-809 + VX-770 for 48 hours and the effect of P. aeruginosa on F508del-CFTR Cl secretion was measured in Ussing chambers. The effect of VX-809 on F508del-CFTR abundance was measured by cell surface biotinylation and western blot analysis. PAO1, PA14, PAK and 6 clinical isolates of P. aeruginosa (3 mucoid and 3 non-mucoid) significantly reduced drug stimulated F508del-CFTR Cl secretion, and plasma membrane F508del-CFTR. The observation that P. aeruginosa reduces VX-809 and VX-809 + VX-770 stimulated F508del CFTR Cl secretion may explain, in part, why VX-809 + VX-770 has modest efficacy in clinical trials.

  19. Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.

    PubMed

    Massink, Maarten P G; Kooi, Irsan E; Martens, John W M; Waisfisz, Quinten; Meijers-Heijboer, Hanne

    2015-11-09

    CHEK2*1100delC is a moderate-risk breast cancer susceptibility allele with a high prevalence in the Netherlands. We performed copy number and gene expression profiling to investigate whether CHEK2*1100delC breast cancers harbor characteristic genomic aberrations, as seen for BRCA1 mutated breast cancers. We performed high-resolution SNP array and gene expression profiling of 120 familial breast carcinomas selected from a larger cohort of 155 familial breast tumors, including BRCA1, BRCA2, and CHEK2 mutant tumors. Gene expression analyses based on a mRNA immune signature was used to identify samples with relative low amounts of tumor infiltrating lymphocytes (TILs), which were previously found to disturb tumor copy number and LOH (loss of heterozygosity) profiling. We specifically compared the genomic and gene expression profiles of CHEK2*1100delC breast cancers (n = 14) with BRCAX (familial non-BRCA1/BRCA2/CHEK2*1100delC mutated) breast cancers (n = 34) of the luminal intrinsic subtypes for which both SNP-array and gene expression data is available. High amounts of TILs were found in a relatively small number of luminal breast cancers as compared to breast cancers of the basal-like subtype. As expected, these samples mostly have very few copy number aberrations and no detectable regions of LOH. By unsupervised hierarchical clustering of copy number data we observed a great degree of heterogeneity amongst the CHEK2*1100delC breast cancers, comparable to the BRCAX breast cancers. Furthermore, copy number aberrations were mostly seen at low frequencies in both the CHEK2*1100delC and BRCAX group of breast cancers. However, supervised class comparison identified copy number loss of chromosomal arm 1p to be associated with CHEK2*1100delC status. In conclusion, in contrast to basal-like BRCA1 mutated breast cancers, no apparent specific somatic copy number aberration (CNA) profile for CHEK2*1100delC breast cancers was found. With the possible exception of copy

  20. Summary of a Gas Transport Tracer Test in the Deep Cerros Del Rio Basalts, Mesita del Buey, Los Alamos NM.

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Stauffer, Philip H.; Rahn, Thomas A.; Ortiz, John Philip

    Here we describe results from a tracer test in the Cerros del Rio basalt beneath Mesita del Buey, Technical Area 54 (TA-54) at Los Alamos National Laboratory (LANL or the Laboratory). This report follows from plans outlined in our previous Tracer Test Work Plan (LANL 2016). These activities were conducted by LANL to further characterize subsurface properties of the Cerros del Rio basalts at Material Disposal Area (MDA) L (Figure 1.1-1). The work presented follows from the “Interim Measures Work Plan for Soil-Vapor Extraction of Volatile Organic Compounds from Material Disposal Area L, Technical Area 54, Revision 1,” submitted tomore » the New Mexico Environment Department (NMED) in September 2014 (LANL 2014). Remediation of the MDA L vapor plume by soil-vapor extraction (SVE) is recommended as part of the final remedy in the “Corrective Measures Evaluation Report for Material Disposal Area L, Solid Waste Management Unit 54-006, at Technical Area 54, Revision 2” to meet a remedial action objective of preventing groundwater from being impacted above a regulatory standard by the transport of volatile organic compounds (VOCs) to groundwater through soil vapor (LANL 2011).« less

  1. Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis.

    PubMed

    Esposito, Speranza; Tosco, Antonella; Villella, Valeria R; Raia, Valeria; Kroemer, Guido; Maiuri, Luigi

    2016-12-01

    Cystic fibrosis (CF) is a lethal monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that entails the (diagnostic) increase in sweat electrolyte concentrations, progressive lung disease with chronic inflammation and recurrent bacterial infections, pancreatic insufficiency, and male infertility. Therapies aimed at restoring the CFTR defect have emerged. Thus, a small molecule which facilitates chloride channel opening, the potentiator Ivacaftor, has been approved for the treatment of CF patients bearing a particular class of rare CFTR mutations. However, small molecules that directly target the most common misfolded CFTR mutant, F508del, and improve its intracellular trafficking in vitro, have been less effective than expected when tested in CF patients, even in combination with Ivacaftor. Thus, new strategies are required to circumvent the F508del-CFTR defect. Airway and intestinal epithelial cells from CF patients bearing the F508del-CFTR mutation exhibit an impressive derangement of cellular proteostasis, with oxidative stress, overactivation of the tissue transglutaminase (TG2), and disabled autophagy. Proteostasis regulators such as cysteamine can rescue and stabilize a functional F508del-CFTR protein through suppressing TG2 activation and restoring autophagy in vivo in F508del-CFTR homozygous mice, in vitro in CF patient-derived cell lines, ex vivo in freshly collected primary patient's nasal cells, as well as in a pilot clinical trial involving homozygous F508del-CFTR patients. Here, we discuss how the therapeutic normalization of defective proteostasis can be harnessed for the treatment of CF patients with the F508del-CFTR mutation.

  2. Estudio multifrecuencia del medio interestelar cercano a HD 192281

    NASA Astrophysics Data System (ADS)

    Arnal, E. M.; Cappa, C.; Cichowolski, S.; Pineault, S.; St-Louis, N.

    Una de las causas que modifica la estructura y dinámica del medio interestelar es la acción que los vientos de las estrellas de gran masa ejercen sobre el mismo. En este trabajo, mediante el uso de datos interferométricos obtenidos en la banda de radio en la transición de 21-cm del Hidrógeno neutro y de imágenes de la emisión de continuo en las bandas de 408 y 1420 MHz, de imágenes HIRES del satélite IRAS en 60 y 100 micrones, y de observaciones de continuo obtenidas con radiotelescopios de disco simple en 2695, 4850 y 8350 MHz se ha realizado un estudio multifrecuencia de los efectos que los vientos estelares de HD 192281, una estrella de tipo espectral O5 Vn((f))p, han tenido sobre el medio interestelar que rodea a la misma.

  3. Estudio multifrecuencia del medio interestelar cercano a HD 192281

    NASA Astrophysics Data System (ADS)

    Arnal, E. M.; Cappa, C. E.; Cichowolski, S.; Pineault, S.; St-Louis, N.

    Una de las causas que modifica la estructura y dinámica del medio interestelar es la acción que los vientos de las estrellas de gran masa ejercen sobre el mismo. En este trabajo, mediante el uso de datos interferométricos obtenidos en la banda de radio en la transición de λ˜21-cm del hidrógeno neutro y de imágenes de la emisión de continuo en las bandas de 408 y 1420 MHz, de imágenes HIRES del satélite IRAS en 60 y 100μm, y de observaciones de continuo obtenidas con radiotelescopios de disco simple en 2695, 4850 y 8350 MHz se ha realizado un estudio multifrecuencia de los efectos que los vientos estelares de HD 192281, una estrella de tipo espectral O5,Vn((f))p, han tenido sobre el medio interestelar que rodea a la misma.

  4. [La diagnosi del disturbo da uso di alcol dal punto di vista psicologico].

    PubMed

    Coriale, Giovanna; Fiorentino, Daniela; Porrari, Raffaella; Battagliese, Gemma; Capriglione, Ida; Cereatti, Federica; Iannuzzi, Silvia; Mauri, Benilde; Galli, Domenica; Fiore, Marco; Attilia, Maria Luisa; Ceccanti, Mauro

    2018-01-01

    RIASSUNTO. Il disturbo da uso di alcol (DUA) è uno dei disturbi psichiatrici più comuni nella popolazione generale. Il DUA è caratterizzato da un pattern di bere eccessivo, che si mantiene nonostante gli effetti negativi che l'alcol ha sul funzionamento lavorativo, sulla salute, sulle problematiche legali, sull'educazione e sulla vita sociale. Attualmente, il modello bio-psico-sociale è quello che spiega meglio il DUA. Infatti, molte ricerche hanno fornito evidenze su come il DUA sia una patologia multidimensionale. Variabili biologiche, psicologiche e socio-culturali entrano in gioco nell'eziologia, nella natura, nel mantenimento e nel cambiamento nel tempo del disturbo. La fase diagnostica è un momento importante del processo di cura, perché il successo del trattamento dipende in larga misura dall'esattezza e dall'adeguatezza della diagnosi. La diagnosi clinica si basa su una valutazione globale del funzionamento del paziente e utilizza il colloquio e gli strumenti psicometrici come mezzo di raccolta di informazioni. Questo articolo fornirà una panoramica delle dimensioni psicologiche più importanti da valutare e sui migliori strumenti psicometrici da usare per una diagnosi adeguata.

  5. The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility*

    PubMed Central

    Mitzelfelt, Katie A.; Limphong, Pattraranee; Choi, Melinda J.; Kondrat, Frances D. L.; Lai, Shuping; Kolander, Kurt D.; Kwok, Wai-Meng; Dai, Qiang; Grzybowski, Michael N.; Zhang, Huali; Taylor, Graydon M.; Lui, Qiang; Thao, Mai T.; Hudson, Judith A.; Barresi, Rita; Bushby, Kate; Jungbluth, Heinz; Wraige, Elizabeth; Geurts, Aron M.; Benesch, Justin L. P.; Riedel, Michael; Christians, Elisabeth S.; Minella, Alex C.; Benjamin, Ivor J.

    2016-01-01

    Mutations of HSPB5 (also known as CRYAB or αB-crystallin), a bona fide heat shock protein and molecular chaperone encoded by the HSPB5 (crystallin, alpha B) gene, are linked to multisystem disorders featuring variable combinations of cataracts, cardiomyopathy, and skeletal myopathy. This study aimed to investigate the pathological mechanisms involved in an early-onset myofibrillar myopathy manifesting in a child harboring a homozygous recessive mutation in HSPB5, 343delT. To study HSPB5 343delT protein dynamics, we utilize model cell culture systems including induced pluripotent stem cells derived from the 343delT patient (343delT/343delT) along with isogenic, heterozygous, gene-corrected control cells (WT KI/343delT) and BHK21 cells, a cell line lacking endogenous HSPB5 expression. 343delT/343delT and WT KI/343delT-induced pluripotent stem cell-derived skeletal myotubes and cardiomyocytes did not express detectable levels of 343delT protein, contributable to the extreme insolubility of the mutant protein. Overexpression of HSPB5 343delT resulted in insoluble mutant protein aggregates and induction of a cellular stress response. Co-expression of 343delT with WT prevented visible aggregation of 343delT and improved its solubility. Additionally, in vitro refolding of 343delT in the presence of WT rescued its solubility. We demonstrate an interaction between WT and 343delT both in vitro and within cells. These data support a loss-of-function model for the myopathy observed in the patient because the insoluble mutant would be unavailable to perform normal functions of HSPB5, although additional gain-of-function effects of the mutant protein cannot be excluded. Additionally, our data highlight the solubilization of 343delT by WT, concordant with the recessive inheritance of the disease and absence of symptoms in carrier individuals. PMID:27226619

  6. 63. G.F.H., photographer July 30, 1932 DEL NORTE COUNTY, SECTION ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    63. G.F.H., photographer July 30, 1932 DEL NORTE COUNTY, SECTION A, HIGHWAY 1. 1-DN A #124, STA. 164=00 SHOWING DRAINAGE CONDITIONS, G.F.H., 7-30-32. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA

  7. Del(20q) in patients with chronic lymphocytic leukemia: A therapy-related abnormality involving lymphoid or myeloid cells

    PubMed Central

    Yin, C. Cameron; Tang, Guilin; Lu, Gary; Feng, Xiaoli; Keating, Michael J.; Medeiros, L. Jeffrey; Abruzzo, Lynne V.

    2015-01-01

    Del(20q), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. FISH analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 27/64 (42%) cases. In most cases, the leukemic cells showed atypical cytologic features, unmutated IGHV genes and ZAP70 positivity. The del(20q) was detected only after chemotherapy in all 27 cases with initial karyotypes available. With a median follow-up of 90 months, 30 patients (47%) died, most as a direct consequence of chronic lymphocytic leukemia. Eight patients developed a therapy-related myeloid neoplasm, seven with a complex karyotype. Combined morphologic and FISH analysis for del(20q) performed in 12 cases without morphologic evidence of a myeloid neoplasm localized the del(20q) to the chronic lymphocytic leukemia cells in 5 (42%) cases, and to myeloid/erythroid cells in 7 (58)% cases. The del(20q) was detected in myeloid cells in all 4 cases of myelodysplastic syndrome. In aggregate, these data indicate that chronic lymphocytic leukemia with del(20q) acquired after therapy is heterogeneous. In cases with morphologic evidence of dysplasia, the del(20q) likely resides in the myeloid lineage. However, in cases without morphologic evidence of dysplasia, the del(20q) may represent clonal evolution and disease progression. Combining morphologic analysis with FISH for del(20q) or performing FISH on immunomagnetically-selected subpopulations to localize the cell population with this abnormality may help guide patient management. PMID:25953391

  8. Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.

    PubMed

    Nagel, Jord H A; Peeters, Justine K; Smid, Marcel; Sieuwerts, Anieta M; Wasielewski, Marijke; de Weerd, Vanja; Trapman-Jansen, Anita M A C; van den Ouweland, Ans; Brüggenwirth, Hennie; van I Jcken, Wilfred F J; Klijn, Jan G M; van der Spek, Peter J; Foekens, John A; Martens, John W M; Schutte, Mieke; Meijers-Heijboer, Hanne

    2012-04-01

    CHEK2 1100delC is a moderate-risk cancer susceptibility allele that confers a high breast cancer risk in a polygenic setting. Gene expression profiling of CHEK2 1100delC breast cancers may reveal clues to the nature of the polygenic CHEK2 model and its genes involved. Here, we report global gene expression profiles of a cohort of 155 familial breast cancers, including 26 CHEK2 1100delC mutant tumors. In line with previous work, all CHEK2 1100delC mutant tumors clustered among the hormone receptor-positive breast cancers. In the hormone receptor-positive subset, a 40-gene CHEK2 signature was subsequently defined that significantly associated with CHEK2 1100delC breast cancers. The identification of a CHEK2 gene signature implies an unexpected biological homogeneity among the CHEK2 1100delC breast cancers. In addition, all 26 CHEK2 1100delC tumors classified as luminal intrinsic subtype breast cancers, with 8 luminal A and 18 luminal B tumors. This biological make-up of CHEK2 1100delC breast cancers suggests that a relatively limited number of additional susceptibility alleles are involved in the polygenic CHEK2 model. Identification of these as-yet-unknown susceptibility alleles should be aided by clues from the 40-gene CHEK2 signature.

  9. Eruptive Massive Vector Particles of 5-Dimensional Kerr-Gödel Spacetime

    NASA Astrophysics Data System (ADS)

    Övgün, A.; Sakalli, I.

    2018-02-01

    In this paper, we investigate Hawking radiation of massive spin-1 particles from 5-dimensional Kerr-Gödel spacetime. By applying the WKB approximation and the Hamilton-Jacobi ansatz to the relativistic Proca equation, we obtain the quantum tunneling rate of the massive vector particles. Using the obtained tunneling rate, we show how one impeccably computes the Hawking temperature of the 5-dimensional Kerr-Gödel spacetime.

  10. Del(20q) in patients with chronic lymphocytic leukemia: a therapy-related abnormality involving lymphoid or myeloid cells.

    PubMed

    Yin, C Cameron; Tang, Guilin; Lu, Gary; Feng, Xiaoli; Keating, Michael J; Medeiros, L Jeffrey; Abruzzo, Lynne V

    2015-08-01

    Deletion 20q (Del(20q)), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. Fluorescence in situ hybridization (FISH) analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 25/64 (39%) cases. In most cases, the leukemic cells showed atypical cytologic features, unmutated IGHV (immunoglobulin heavy-chain variable region) genes, and ZAP70 positivity. The del(20q) was detected only after chemotherapy in all 27 cases with initial karyotypes available. With a median follow-up of 90 months, 30 patients (47%) died, most as a direct consequence of chronic lymphocytic leukemia. Eight patients developed a therapy-related myeloid neoplasm, seven with a complex karyotype. Combined morphologic and FISH analysis for del(20q) performed in 12 cases without morphologic evidence of a myeloid neoplasm localized the del(20q) to the chronic lymphocytic leukemia cells in 5 (42%) cases, and to myeloid/erythroid cells in 7 (58)% cases. The del(20q) was detected in myeloid cells in all 4 cases of myelodysplastic syndrome. In aggregate, these data indicate that chronic lymphocytic leukemia with del(20q) acquired after therapy is heterogeneous. In cases with morphologic evidence of dysplasia, the del(20q) likely resides in the myeloid lineage. However, in cases without morphologic evidence of dysplasia, the del(20q) may represent clonal evolution and disease progression. Combining morphologic analysis with FISH for del(20q) or performing FISH on immunomagnetically selected sub-populations to localize the cell population with this abnormality may help guide patient management.

  11. 62. R.L.T., photographer November 1, 1934 DEL NORTE COUNTY, SECTION ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    62. R.L.T., photographer November 1, 1934 DEL NORTE COUNTY, SECTION D, HIGHWAY 1. REDWOOD CLEARING ON EXISTING LINE, 1-DN-71-A #26, R.L.T. 11-1-34. Stamped office copy. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA

  12. 60. C.J.T., photographer December 23, 1955 KLAMATH RIVER BRIDGE, DEL ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    60. C.J.T., photographer December 23, 1955 KLAMATH RIVER BRIDGE, DEL NORTE COUNTY, SECTION A, HIGHWAY 1. DN-1-A #538, KLAMATH RIVER BR. FROM SO. END, 12/23/55, C.J.T. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA

  13. High-resolution foraminiferal, isotopic, and trace element records from holocene estuarine deposits of San Francisco Bay, California

    USGS Publications Warehouse

    McGann, M.

    2008-01-01

    A 3.5-m gravity core (DJ6-93SF-6) from San Francisco Bay reveals a complex paleoclimatic history of the region over the last 3870 cal YBP. A polynomial equation based on 11 AMS 14C ages provides an excellent age model for the core, and environmental proxies for water temperature and salinity are derived from various foraminiferal abundances, stable carbon and oxygen isotopes, and Mg/Ca ratios. Two foraminiferal associations were identified by Q-mode cluster analysis: a colder-water Elphidium excavatum association and the warmer-water Ammonia beccarii-Elphidium gunteri association. The E. excavatum association dominates the core for all but about 600 years out of the last four millennia. At 3870 cal YBP, water temperatures were warm (13.9??C) and freshwater inflow was reduced compared with today. From 3590 to 2860 cal YBP, temperatures dropped 0.5??C and the climate remained dry. This was followed by a period of pronounced lower ??13C values, indicating that conditions became considerably wetter from 2860 to 2170 cal YBP. During this interval, the temperature oscillated frequently, peaking at 13.9??C at 2710 cal YBP, then dropping shortly thereafter to 12.8??C at 2420 cal YBP. Freshwater inflow gradually decreased between 2170 and 1950 cal YBP with a minimal rise in temperature, then changed quickly to colder and wetter conditions at 1900 cal YBP. Drier conditions then prevailed until 1480 cal YBP with water temperatures fluctuating between 13.1??C and 13.8??C, followed by wetter climate from 1480 to 1320 cal YBP. A significant faunal shift from the E. excavatum association to the A. beccarii-E. gunteri association occurred from 1250 to 650 cal YBP, possibly due to regional warming, decreased oxygen availability, and/or a change in the phyto-plankton community. Associated with this change in faunal composition were warm and dry conditions, representative of the Medieval Warm Period (Medieval Climatic Anomaly). A climatic shift coincident with the onset of the Little

  14. Digitalización de diapositivas del Sol en H α

    NASA Astrophysics Data System (ADS)

    Missio, H.; Montenegro, C.; Montenegro, R.

    El objetivo de este trabajo ha sido el de obtener imágenes digitalizadas de las diapositivas tomadas del Sol en luz de hidrógeno de la línea correspondiente a Hα, y de esta manera llegar a convertir las mismas a un archivo digital para poder ser tratadas luego por computadora y poder contabilizar con exactitud, mediante un programa adecuado para tal fin, las zonas activas del Sol en la imagen digitalizada. En principio, para llegar a esto se pensó en la utilización de medios accesibles, y como detector se utilizó un fototransistor ubicado dentro de un soporte rectangular sobre dos ejes de desplazamiento X e Y. Se han obtenido con este procedimiento imágenes de buena calidad, construídas a partir de tres datos digitalizados en cada barrido que aportan la posición X e Y y la intensidad del pixel en ese punto indicada en 255 tonos de grises.

  15. CHEK2 (∗) 1100delC Mutation and Risk of Prostate Cancer.

    PubMed

    Hale, Victoria; Weischer, Maren; Park, Jong Y

    2014-01-01

    Although the causes of prostate cancer are largely unknown, previous studies support the role of genetic factors in the development of prostate cancer. CHEK2 plays a critical role in DNA replication by responding to double-stranded breaks. In this review, we provide an overview of the current knowledge of the role of a genetic variant, 1100delC, of CHEK2 on prostate cancer risk and discuss the implication for potential translation of this knowledge into clinical practice. Currently, twelve articles that discussed CHEK2 (∗)1100delC and its association with prostate cancer were identified. Of the twelve prostate cancer studies, five studies had independent data to draw conclusive evidence from. The pooled results of OR and 95% CI were 1.98 (1.23-3.18) for unselected cases and 3.39 (1.78-6.47) for familial cases, indicating that CHEK2 (∗)1100delC mutation is associated with increased risk of prostate cancer. Screening for CHEK2(∗)1100delC should be considered in men with a familial history of prostate cancer.

  16. CHEK2 ∗1100delC Mutation and Risk of Prostate Cancer

    PubMed Central

    Park, Jong Y.

    2014-01-01

    Although the causes of prostate cancer are largely unknown, previous studies support the role of genetic factors in the development of prostate cancer. CHEK2 plays a critical role in DNA replication by responding to double-stranded breaks. In this review, we provide an overview of the current knowledge of the role of a genetic variant, 1100delC, of CHEK2 on prostate cancer risk and discuss the implication for potential translation of this knowledge into clinical practice. Currently, twelve articles that discussed CHEK2 ∗1100delC and its association with prostate cancer were identified. Of the twelve prostate cancer studies, five studies had independent data to draw conclusive evidence from. The pooled results of OR and 95% CI were 1.98 (1.23–3.18) for unselected cases and 3.39 (1.78–6.47) for familial cases, indicating that CHEK2 ∗1100delC mutation is associated with increased risk of prostate cancer. Screening for CHEK2∗1100delC should be considered in men with a familial history of prostate cancer. PMID:25431674

  17. The Cuernos del Paine mountains in Torres del Paine National Park in Chile, photographed during NASA's AirSAR 2004 campaign

    NASA Image and Video Library

    2004-03-11

    The Cuernos del Paine mountains in Torres del Paine National Park in Chile, photographed during NASA's AirSAR 2004 campaign. AirSAR 2004 is a three-week expedition in Central and South America by an international team of scientists that is using an all-weather imaging tool, called the Airborne Synthetic Aperture Radar (AirSAR), located onboard NASA's DC-8 airborne laboratory. Scientists from many parts of the world are combining ground research with NASA's AirSAR technology to improve and expand on the quality of research they are able to conduct. Founded in 1959, Torres del Paine National Park encompasses 450,000 acres in the Patagonia region of Chile. This region is being studied by NASA using a DC-8 equipped with an Airborne Synthetic Aperture Radar (AirSAR) developed by scientists from NASA’s Jet Propulsion Laboratory. This is a very sensitive region that is important to scientists because the temperature has been consistently rising causing a subsequent melting of the region’s glaciers. AirSAR will provide a baseline model and unprecedented mapping of the region. This data will make it possible to determine whether the warming trend is slowing, continuing or accelerating. AirSAR will also provide reliable information on ice shelf thickness to measure the contribution of the glaciers to sea level.

  18. El ``Aula del Cel'': astronomy approaching high school

    NASA Astrophysics Data System (ADS)

    Ortiz-Gil, A.; Gómez Collado, M.; Gallego Calvente, A. T.

    The “Aula del Cel” is a project carried out by the Astronomical Obsevatory of the University of Valencia, Spain. It offers high-school teachers a tool for teaching Astronomy to 10 to 17 year-old students. Different programs, experiments, and audiovisual presentations have been prepared by a team formed both by professional astronomers and teachers, and are offered in a format chosen to suit each particular age and curriculum group. Special sessions have been designed for students with special needs (for example blind or autistic children) in close contact with the pedagogical teams responsible for their education. Nearly three thousand students have already visited the “Aula del Cel” over the first six months that it has been offered to the school community.

  19. CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer

    PubMed Central

    Huijts, Petra EA; Hollestelle, Antoinette; Balliu, Brunilda; Houwing-Duistermaat, Jeanine J; Meijers, Caro M; Blom, Jannet C; Ozturk, Bahar; Krol-Warmerdam, Elly MM; Wijnen, Juul; Berns, Els MJJ; Martens, John WM; Seynaeve, Caroline; Kiemeney, Lambertus A; van der Heijden, Henricus F; Tollenaar, Rob AEM; Devilee, Peter; van Asperen, Christi J

    2014-01-01

    The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an increased breast cancer risk (odds ratio 2.7). To explore the prevalence and clinical consequences of 1100delC homozygosity in the Netherlands, we genotyped a sporadic breast cancer hospital-based cohort, a group of non-BRCA1/2 breast cancer families, and breast tumors from a tumor tissue bank. Three 1100delC homozygous patients were found in the cohort of 1434 sporadic breast cancer patients, suggesting an increased breast cancer risk for 1100delC homozygotes (odds ratio 3.4, 95% confidence interval 0.4–32.6, P=0.3). Another 1100delC homozygote was found in 592 individuals from 108 non-BRCA1/2 breast cancer families, and two more were found after testing 1706 breast tumors and confirming homozygosity on their wild-type DNA. Follow-up data was available for five homozygous patients, and remarkably, three of them had developed contralateral breast cancer. A possible relationship between 1100delC and lung cancer risk was investigated in 457 unrelated lung cancer patients but could not be confirmed. Due to the small number of 1100delC homozygotes identified, the breast cancer risk estimate associated with this genotype had limited accuracy but is probably higher than the risk in heterozygous females. Screening for CHEK2 1100delC could be beneficial in countries with a relatively high allele frequency. PMID:23652375

  20. Primer registro para Peru del genero Nielsonia Young, 1977 (Hemiptera: Cicadellidae: Cicadellinae: Cicadellini)

    USDA-ARS?s Scientific Manuscript database

    En este articulo se reporta por primera vez para el Peru una especies del genero Nielsonia Young, 1977, de material procedente del Departamento de Tumbes. El genero ha sido reportada anteriormente de Ecuador, como unico registro para Sudamerica, y America Central. El unico especimen hembra encontra...

  1. Ectopsocidae (Psocodea: 'Psocoptera') from Valle del Cauca and NNP Gorgona, Colombia.

    PubMed

    Manchola, Oscar Fernando Saenz; Obando, Ranulfo González; Aldrete, Alfonso N García

    2014-04-14

    The results of a survey of the psocid family Ectopsocidae in Valle del Cauca and NNP Gorgona, are here presented. Fifteen species were identified, in the genera Ectopsocus (14 species), and Ectopsocopsis (one species); four of the Ectopsocus species are new to science and are here described and illustrated. The male of E. thorntoni García Aldrete is here described. Records of Ectopsocopsis cryptomeriae (Enderlein), Ectopsocus briggsi McLachlan, E. californicus Banks, E. columbianus Badonnel, E. maindroni Badonnel, E. meridionalis Ribaga, E. pilosus Badonnel, E. richardsi Pearman, E. titschacki Jentsch, and E. vilhenai Badonnel, are provided. Ten species were found only in Valle del Cauca, two species were found only in the NNP Gorgona, and three species were found at both sites. The specimens studied are deposited in the Entomological Museum, Universidad del Valle, Santiago de Cali, Colombia (MUSENUV).

  2. Desgarros del epitelio pigmentario de la retina: factores de riesgo, mecanismo y control terapéutico.

    PubMed

    Clemens, Christoph R; Eter, Nicole

    2017-07-11

    Los desgarros del epitelio pigmentario de la retina (EPR) se asocian en la mayoría de los casos con los desprendimientos vascularizados del EPR debido a una degeneración macular asociada a la edad (DMAE), y normalmente implican una pérdida adversa de la agudeza visual. Estudios recientes indican que ha habido un aumento en la incidencia de desgarros del EPR desde la introducción de fármacos anti-factor de crecimiento del endotelio vascular (anti-VEGF) así como una asociación temporal entre el desgarro y la inyección intravítrea. Dado que el número de pacientes con DMAE y el número de inyecciones anti-VEGF va en aumento, tanto la dificultad de prevenir desgarros del EPR como el tratamiento tras la formación de los desgarros han adquirido una mayor relevancia. De forma paralela, la evolución de la imagenología de la retina ha contribuido de manera significativa a comprender mejor el desarrollo de los desgarros del EPR en los últimos años. Esta revisión resume los conocimientos que se poseen actualmente sobre el desarrollo, los factores pronósticos y las estrategias terapéuticas de los desgarros del EPR antes y después de que estos se formen. © 2017 S. Karger AG, Basel.

  3. 33 CFR 334.110 - Delaware Bay off Cape Henlopen, Del.; naval restricted area.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ..., Del.; naval restricted area. 334.110 Section 334.110 Navigation and Navigable Waters CORPS OF....110 Delaware Bay off Cape Henlopen, Del.; naval restricted area. (a) The area. Beginning at a point on... regulations in this section shall be enforced by the Commandant, Fourth Naval District, and such agencies as...

  4. Modeling landscapes and past vegetation patterns of New Mexico's Rio Del Oso Valley

    Treesearch

    Richard D. Periman

    2005-01-01

    Humans have interacted with the landscape and ecosystem of New Mexico's Rio del Oso Valley for thousands of years. Throughout the Holocene, various cultures have dramatically affected and altered the Rio del Oso. An interdisciplinary research approach, incorporating geomorphology, paleobotany, archaeology, and history, provides a broad range of methodologies and...

  5. El Alcalde José Carlos Aponte Dalmau del Municipio de Carolina es nombrado a formar parte del Comité Asesor de Gobiernos Locales de la EPA a nivel de todos los Estados Unidos

    EPA Pesticide Factsheets

    Comunicado de prensa de la EPA: El Alcalde José Carlos Aponte Dalmau del Municipio de Carolina es nombrado a formar parte del Comité Asesor de Gobiernos Locales de la EPA a nivel de todos los Estados Unidos

  6. El bosque estatal del nuevo milenio antes y después del huracán Georges

    Treesearch

    A.E. Lugo; E. Román Nunci; M. Quinones; H. Marcano Vega; I. Vicéns

    2005-01-01

    We studied changes that occurred between 1997 and 2005 on a secondary wet subtropical urban forest in the University of Puerto Rico’s Botanical Garden (Bosque Estatal del Nuevo Milenio). Hurricane Georges passed south of the forest on November 21, 1998 with 127 km/h winds. The study consisted of identifying species in 40 plots of 254 m2 each, measuring the diameter at...

  7. Benthic foraminifera and environmental changes in Long Island Sound

    USGS Publications Warehouse

    Thomas, E.; Gapotchenko, T.; Varekamp, J.C.; Mecray, E.I.; Buchholtz ten Brink, Marilyn R.

    2000-01-01

    Benthic foraminiferal faunas in Long Island Sound (LIS) in the 1940s and 1960s were of low diversity, and dominated by species of the genus Elphidium, mainly Elphidium excavatum clavatum, with common Buccella frigida and Eggerella advena. The distribution of these species was dominantly correlated with depth, but it was not clear which depth-related environmental variable was most important. Differences between faunas collected in 1996 and 1997, and in the 1940s and 1960s include a strong decrease in relative abundance of Eggerella advena over all LIS, an increase in relative abundance of Ammonia beccarii in western LIS, and a decrease in species diversity. The decreased diversity suggests that environmental stress caused the faunal changes. Oxygen isotope data for E. excavatum clavatum indicate that a change in salinity is not a probable cause. Carbon isotope data suggest that the supply of organic matter to the benthos increased since the early 1960s, with a stronger increase in western LIS where algal blooms have occurred since the early 1970s, possibly as a result of nutrient input by waste water treatment plants. These blooms or the resulting episodes of anoxia/hypoxia may have played a role in the increased relative abundance of A. beccarii. There is no clear explanation for the decreased abundance of E. advena, but changes in the phytoplankton composition (thus food supply) are a possible cause. Benthic foraminiferal faunal and stable isotope data have excellent potential as indicators of physicochemical environmental changes and their effects on the biota in LIS.

  8. Antagonistic effects of IL-17 and D-resolvins on endothelial Del-1 expression through a GSK-3β-C/EBPβ pathway.

    PubMed

    Maekawa, Tomoki; Hosur, Kavita; Abe, Toshiharu; Kantarci, Alpdogan; Ziogas, Athanasios; Wang, Baomei; Van Dyke, Thomas E; Chavakis, Triantafyllos; Hajishengallis, George

    2015-09-16

    Del-1 is an endothelial cell-secreted anti-inflammatory protein. In humans and mice, Del-1 expression is inversely related to that of IL-17, which inhibits Del-1 through hitherto unidentified mechanism(s). Here we show that IL-17 downregulates human endothelial cell expression of Del-1 by targeting a critical transcription factor, C/EBPβ. Specifically, IL-17 causes GSK-3β-dependent phosphorylation of C/EBPβ, which is associated with diminished C/EBPβ binding to the Del-1 promoter and suppressed Del-1 expression. This inhibitory action of IL-17 can be reversed at the GSK-3β level by PI3K/Akt signalling induced by D-resolvins. The biological relevance of this regulatory network is confirmed in a mouse model of inflammatory periodontitis. Intriguingly, resolvin-D1 (RvD1) confers protection against IL-17-driven periodontal bone loss in a Del-1-dependent manner, indicating an RvD1-Del-1 axis against IL-17-induced pathological inflammation. The dissection of signalling pathways regulating Del-1 expression provides potential targets to treat inflammatory diseases associated with diminished Del-1 expression, such as periodontitis and multiple sclerosis.

  9. An unexpected effect of TNF-α on F508del-CFTR maturation and function

    PubMed Central

    Bitam, Sara; Urbach, Valérie; Sermet-Gaudelus, Isabelle; Hinzpeter, Alexandre; Edelman, Aleksander

    2015-01-01

    Cystic fibrosis (CF) is a multifactorial disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene ( CFTR), which encodes a cAMP-dependent Cl - channel. The most frequent mutation, F508del, leads to the synthesis of a prematurely degraded, otherwise partially functional protein. CFTR is expressed in many epithelia, with major consequences in the airways of patients with CF, characterized by both fluid transport abnormalities and persistent inflammatory responses. The relationship between the acute phase of inflammation and the expression of wild type (WT) CFTR or F508del-CFTR is poorly understood. The aim of the present study was to investigate this effect. The results show that 10 min exposure to TNF-alpha (0.5-50ng/ml) of F508del-CFTR-transfected HeLa cells and human bronchial cells expressing F508del-CFTR in primary culture (HBE) leads to the maturation of F508del-CFTR and induces CFTR chloride currents. The enhanced CFTR expression and function upon TNFα is sustained, in HBE cells, for at least 24 h. The underlying mechanism of action involves a protein kinase C (PKC) signaling pathway, and occurs through insertion of vesicles containing F508del-CFTR to the plasma membrane, with TNFα behaving as a corrector molecule. In conclusion, a novel and unexpected action of TNFα has been discovered and points to the importance of systematic studies on the roles of inflammatory mediators in the maturation of abnormally folded proteins in general and in the context of CF in particular. PMID:26594334

  10. Weyl fermions in a family of Gödel-type geometries with a topological defect

    NASA Astrophysics Data System (ADS)

    Garcia, G. Q.; Oliveira, J. R. De S.; Furtado, C.

    In this paper, we study Weyl fermions in a family of Gödel-type geometries in Einstein general relativity. We also consider that these solutions are embedded in a topological defect background. We solve the Weyl equation and find the energy eigenvalues and eigenspinors for all three cases of Gödel-type geometries where a topological defect is passing through them. We show that the presence of a topological defect in these geometries contributes to the modification of the spectrum of energy. The energy zero modes for all three cases of the Gödel geometries are discussed.

  11. General nonextremal rotating charged Gödel black holes in minimal five-dimensional gauged supergravity.

    PubMed

    Wu, Shuang-Qing

    2008-03-28

    I present the general exact solutions for nonextremal rotating charged black holes in the Gödel universe of five-dimensional minimal supergravity theory. They are uniquely characterized by four nontrivial parameters: namely, the mass m, the charge q, the Kerr equal rotation parameter a, and the Gödel parameter j. I calculate the conserved energy, angular momenta, and charge for the solutions and show that they completely satisfy the first law of black hole thermodynamics. I also study the symmetry and separability of the Hamilton-Jacobi and the massive Klein-Gordon equations in these Einstein-Maxwell-Chern-Simons-Gödel black hole backgrounds.

  12. La implantacion del enfoque constructivista en el aula de ciencia: Estudio de caso multiple

    NASA Astrophysics Data System (ADS)

    Arroyo Betancourt, Luz I.

    Esta investigacion estudia la implantacion del enfoque constructivista en tres aulas de ciencia del contexto puertorriqueno. Se auscultaron las practicas educativas que utilizan maestras consideradas constructivistas y la correspondencia de sus practicas educativas con los elementos esenciales de la didactica que proponen los teoricos de los planteamientos constructivistas. Se ausculto, ademas, a que vision del enfoque constructivista responden las expresiones de las maestras acerca de su practica educativa y como compara con su quehacer, a la luz de los elementos esenciales de las visiones constructivistas piagetiana, social y radical. Se utilizo el diseno de estudio descriptivo de caso multiple. El estudio se baso en entrevistas a profundidad, revision de documentos y observacion no participativa a la sala de clases. El contexto fueron tres escuelas publicas de la Region Educativa de San Juan, una elemental, una intermedia y una superior. Los resultados confirmaron que la transicion hacia el enfoque constructivista es un proceso que toma tiempo, dedicacion y la participacion en adiestramientos y readiestramientos acerca del nuevo enfoque. Las maestras coinciden en la mayoria de las practicas educativas que utilizan para implantar el enfoque constructivista de ensenanza y difieren en algunas debido, probablemente, a que han tenido que adaptarlas a los correspondientes niveles de ensenanza: elemental, intermedio y superior. Dos de las maestras planifican por conceptos generadores, mientras que una de ellas planifica siguiendo la guia que recibe del Departamento de Educacion. Difieren ademas, en el enfasis que confieren al inquirir cientifico. Con relacion a la correspondencia entre la vision manifestada por las maestras a la luz de las visiones piagetiana, social y radical, aparentemente, las preguntas del protocolo de entrevistas no lograron evocar la informacion con suficiente profundidad, por lo que la investigadora tuvo que inferir las visiones de las

  13. Estimaciones de Prevalencia del VIH por Género y Grupo de Riesgo en Tijuana, México: 2006

    PubMed Central

    Iñiguez-Stevens, Esmeralda; Brouwer, Kimberly C.; Hogg, Robert S.; Patterson, Thomas L.; Lozada, Remedios; Magis-Rodriguez, Carlos; Elder, John P.; Viani, Rolando M.; Strathdee, Steffanie A.

    2010-01-01

    OBJETIVO Estimar la prevalencia del VIH en adultos de 15-49 años de edad en Tijuana, México - en la población general y en subgrupos de riesgo en el 2006. METODOS Se obtuvieron datos demográficos del censo Mexicano del 2005, y la prevalencia del VIH se obtuvo de la literatura. Se construyó un modelo de prevalencia del VIH para la población general y de acuerdo al género. El análisis de sensibilidad consistió en estimar errores estándar del promedio-ponderado de la prevalencia del VIH y tomar derivados parciales con respecto a cada parámetro. RESULTADOS La prevalencia del VIH es 0.54%(N = 4,347) (Rango: 0.22%–0.86%, (N = 1,750–6,944)). Esto sugiere que 0.85%(Rango: 0.39%–1.31%) de los hombres y 0.22%(Rango: 0.04%–0.40%) de las mujeres podrían ser VIH-positivos. Los hombres que tienen sexo con hombres (HSH), las trabajadoras sexuales usuarias de drogas inyectables (MTS-UDI), MTS-noUDI, mujeres UDI, y los hombres UDI contribuyeron las proporciones más elevadas de personas infectadas por el VIH. CONCLUSIONES El número de adultos VIH-positivos entre subgrupos de riesgo en la población de Tijuana es considerable, marcando la necesidad de enforcar las intervenciones de prevención en sus necesidades específicas. El presente modelo estima que hasta 1 en cada 116 adultos podrían ser VIH-positivos. PMID:19685824

  14. An evening at "La Clinica del Pueblo".

    PubMed

    Shefsky, M L

    1986-01-01

    This article describes a typical evening at the Clinica del Pueblo in the Hispanic neighborhood of Adams-Morgan in Washington, D.c. The Clinical del Pueblo began operating in 1983 in response to the urgen medical needs of Central American refugees arriving in the Washington D.c. area. The refugees bring with them severe trauma, fear, and health problems caused by the civil was and exacerbated by inadequate or non-existant health services. Approximately 80,000 Salvadoran refugees live in the area. They do not receive adequate health care for 3 reasons. 1) Because the US goverment is unwilling to recognize them as true refugees, they live with the constant threat of deportatin back to the violence from which they have fled. 2) Refugees lack the ability to pay for private care. 3) Langauage and culture create frightening barriers to health care for the refugees. For those who do seek care, these barriers can lead to the inadequate or incomplete diagnoses and poor compliance and follow-up. Plenty International and the Central American Refugee Center responded to these problems by organizing a free clinic to provide not only medical care but also a training course for volunteers. The director of the clinic organizes the course, the classes are taught by a variety of people including the clinic's volunteer physicians, nurses, and public health educators as well as graduates of previus training courses and people from the wider community. The services of the clinic reach only a small portion of the population in need. However, the fact that free medical services are now available to some Central American refugees make the Clinica del Pueblo an important program.

  15. The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

    PubMed

    Diana, Anna; Polizzi, Angela Maria; Santostasi, Teresa; Ratclif, Luigi; Pantaleo, Maria Giuseppina; Leonetti, Giuseppina; Iusco, Danila Rosa; Gallo, Crescenzio; Conese, Massimo; Manca, Antonio

    2016-06-01

    Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients who at a first analysis appeared homozygous for the F508del mutation (n=63) or compound heterozygous for the F508del and another mutation in the cystic fibrosis transmembrane conductance regulator gene (n=155) were searched for the A238V mutation in exon 6. The allelic frequency of the complex allele [A238V;F508del] was 0.04. When the whole data set was used (comprised also of 56 F508del/F508del and 34 F508del/other mutation controls), no differences reached the statistical significance in the clinical parameters, except chloride concentrations which were lower in [A238V;F508del]/other mutation compared with F508del/other mutation (P=0.03). The two study groups presented less complications than the control groups. Within the minimal data set (34 F508del/F508del, 27 F508del/other mutation, 4 [A238V;F508del]/F508del cases and 5 [A238V;F508del]/other mutation cases); that is, presenting all the variables in each patient, forced expiratory volume in 1 s and forced vital capacity presented a trend to lower levels in the study groups in comparison with the F508del/F508del group, and C-reactive protein approximated statistically significant higher levels in the [A238V;F508del]/other mutation as compared with F508del/F508del patients (P=0.09). The analysis of statistical dependence among the variables showed a significant anticorrelation between chloride and body mass index in the [A238V;F508del]/other mutation group. In conclusion, the complex allele [A238V;F508del] seems to be associated with less general complications than in the control groups, on the other hand possibly giving a worse pulmonary phenotype and higher systemic/local inflammatory response. These findings have implications for the correct recruitment and clinical response of F508del patients in the clinical trials testing the new etiological drugs for cystic fibrosis.

  16. Comportamiento del Helio en estrellas químicamente peculiares

    NASA Astrophysics Data System (ADS)

    Malaroda, S. M.; López García, Z.; Leone, F.; Catalano, F.

    Las estrellas químicamente peculiares (CP) se caracterizan por tener deficiencias y sobreabundancias de algunos elementos químicos de hasta 106 veces la abundancia solar. Además presentan variaciones en las líneas espectrales. Se piensa que ello se debe a que los campos magnéticos presentes en este tipo de estrellas son principalmente dipolares, con un eje de simetría diferente del eje de rotación. La distribución de los elementos sobreabundantes y deficientes no es homogénea sobre la superficie estelar y las variaciones observadas serían una consecuencia directa de la rotación estelar. Entre los elementos con abundancia anómala se encuentra el Helio, cuyas líneas tienen intensidades que no son consistentes con una abundancia normal, que no puede ser determinada del modo usual, o sea, considerando una atmósfera con composición solar. Con el fin de determinar la abundancia de este elemento, se inició un estudio de estrellas anómalas de Helio, Hew y He strong. Además se determinarán las abundancias de otros elementos anómalos como ser el Si, Cr, Mg, Mn y Fe. Las mismas se determinan del modo tradicional, o sea: a) medida de los anchos equivalentes de las líneas de los distintos elementos analizados; b) adopción de la temperatura efectiva, gravedad y abundancia del Helio; c) cálculo del modelo de atmósfera d) comparación con las observaciones y reinicio de un proceso iterativo hasta lograr un acuerdo entre todos los parámetros analizados. Las observaciones se llevaron a cabo en el Complejo Astronómico El Leoncito. Se observaron setenta y ocho estrellas anómalas de Helio. En este momento se está procediendo a calcular las abundancias correspondientes a los distintos elementos químicos. Para ello se hace uso de los modelos de Kurucz, ATLAS9. Los cálculos NLTE de las líneas de Helio se llevan a cabo con el programa MULTI y se compararán con los realizados con el programa WIDTH9 de Kurucz (LTE), con el objeto de resaltar la importancia de

  17. Misura de Massa e Larghezza degli Stati $$x_1$$ e $$x_2$$ del Charmonio Formati in Interazioni $$p - \\bar{p}$$

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Pallavicini, Marco

    1995-01-01

    Oggetto di questa tesi è la misura di alcune caratteristiche fisiche ( massa, larghezza, e larghezza parziale in p - p) degli stati 3 Pi e 3 A del charmonio, - overo del sistema legato di un quark "charm" e del suo antiquark-, nell'ambito dell'esperimento E-760, installato nell'accumulatore di antiprotoni del Fermilab (U.S.A).

  18. Archivo de placas astrométricas del Observatorio de La Plata

    NASA Astrophysics Data System (ADS)

    di Sisto, R.; Orellana, R. B.

    Se ha realizado una base de datos con las placas fotográficas obtenidas con el Astrográfico del Observatorio de La Plata. Se han clasificado un total de 3000 placas obtenidas para asteroides y cometas. El acceso a la base de datos se hará por FTP y la misma contendrá la siguiente información: fecha y tiempo de exposición, coordenadas del centro de placa, tipo de emulsión fotográfica, estado de la placa, objeto fotografiado.

  19. Gonadal dysgenesis, Turner syndrome with 46,XX,del(18p)3

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Telvi, L.; Ion, R.; Bernheim, A.

    1994-09-01

    The authors report a case of a female infant with gonadal dysgenesis, clinical features of Turner syndrome and a de novo del(18p). The factors controlling gonadal dysgenesis and Turner syndrome are unknown to date. The genes involved could be located not only on X chromosome but also on autosomes. The present case suggests that one of these genes is situated on the short arm of chromosome 18. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

  20. Mejoras en el apuntado del telescopio de 2,15 mts de CASLEO

    NASA Astrophysics Data System (ADS)

    Aballay, J. L.; Casagrande, A. R.; Pereyra, P. F.; Marún, A. H.

    Con el objeto de optimizar el funcionamiento del telescopio de 2,15 mts. de CASLEO, se están eliminando los motores de calar, de guía y mecánica asociada. Para ésto, se están diseñando dos electrónicas que gobernarán, solamente, el motor de slew y el de tracking. Con el control del motor de slew se realizarán las funciones de slew y calar, controlando desde una PC la placa que maneja las rampas de velocidad. De este modo, el movimiento será programado y por lo tanto, más suave y preciso. Con el control del motor de tracking, a través de un generador de frecuencias programable desde una PC, se proveerá los movimientos necesarios para el tracking y guía.

  1. [Recommendations to improve the scientific communication process in the Revista Médica del IMSS].

    PubMed

    Álvarez, Ivón

    2016-01-01

    In order to improve the position of the Revista Médica del Instituto Mexicano del Seguro Social among the different journals, in this editorial we enumerate a series of recommendations to ameliorate the practices of the different actors who participate in the scientific communication process of this journal.

  2. Electromagnetically Inferred Structure of the Caja del Rio Plateau, New Mexico

    NASA Astrophysics Data System (ADS)

    Layton, M. E.; Speed, C.; Shukla, M.; Vila, A.; Chon, E.; Kitamikado, C.; Feucht, D. W.; Bedrosian, P.; Pellerin, L.

    2016-12-01

    Magnetotelluric (MT) and transient electromagnetic (TEM) data were acquired by students from the Summer of Applied Geophysical Experience (SAGE) to construct structural models in and around the Caja del Rio Plateau, New Mexico. The Caja del Rio is located on the La Bajada-Jemez constriction that separates the Española and Santa Domingo basins in the Rio Grande Rift. The Rio Grande Rift, the result of tectonic extensional forces, extends approximately north-south across northern New Mexico. MT data collected in 2016 were merged with that from previous years to make up an 11 km north line and a 16 km south line extending from the west side of the Caja Del Rio to the east off the plateau in the Old Buckman Road area. The resistivity distributions revealed in one-dimensional (1-D) and two-dimensional (2-D) inverse models show some robust features. Models of the north are interpreted as a top resistive layer (<500m) of Tertiary volcanoclastic rock, to a central conductive layer (600-200m) of Mesozoic and Paleozoic sediments of the Santa Fe group to crystalline basement rock. Models for the south line show low resistivity for the first 3 to 5 km and then transitions into higher resistivity values consistent with the models for the north line. At a period of 100 seconds induction arrows (Parkinson's convention) point in the northwest direction towards the conductive Valles Caldera. The MT models are consistent with geologic interpretations of the stratigraphic units. In addition, models disclose an additional conductive layer below the basement that we interpret as the mid-crustal conductor. Transient electromagnetic (TEM) data were collected in seven locations atop the Caja del Rio plateau in an attempt to identify the basal contact of the Cerros del Rio volcanic field, which, in turn, allow for the thickness of these basaltic and andesitic deposits to be mapped across the plateau. One-dimensional inverse models produced from the TEM data were aligned and interpreted

  3. Field Measurements of Respiratory Del13CO2 and Photodegradation

    NASA Astrophysics Data System (ADS)

    van Asperen, H.; Sabbatini, S.; Nicolini, G.; Warneke, T.; Papale, D.; Notholt, J.

    2014-12-01

    Carbon decomposition dynamics have been studied in a variety of ecosystems and its variation can mostly be explained in terms of environmental variables (e.g. temperature and precipitation). However, carbon dynamics in arid, water limited regions have shown to be very different and are still largely unknown. Several studies have indicated the importance of photodegradation, the direct breakdown of organic matter by sunlight, in these arid regions. A FTIR (Fourier Transform Infrared Spectrometer) was set up to continuously measure concentrations of CO2, CH4, N2O, CO as well as del13C in CO2. The FTIR was connected to 2 different flux measurement systems: a Flux Gradient system and 2 flux chambers, providing a continuous data set of gas concentrations and biosphere-atmosphere gas fluxes at different heights and scales. Field measurements showed photodegradation induced carbon fluxes. Also, respiratory del13CO2 was determined by use of Keeling plots, and was determined to vary between -25‰ and -21‰. A clear diurnal pattern in respiratory del13CO2 was found, suggesting either different (dominant) respiratory processes between day and night or the effect of diffusive fractionation.

  4. Ecos del Cosmos: A radio astroexperience at the Universitat de Valencia

    NASA Astrophysics Data System (ADS)

    Marco, E.; Ballesteros, F. J.; Ortiz-Gil, A.

    2017-03-01

    During the last three years Ecos del Cosmos has been a radio program dedicated to spreading astronomical hot news to the Universitat de València community and beyond, and also topics of general astronomical interest. To do this, this program by Ràdio Universitat has conducted live interviews with researchers, explored relationships of astronomy with humanities and society, performed contests and explained in a simple way the main monthly ephemerides. A version of Ecos del Cosmos was broadcasted in the Onda Cero’s summer program ''Jelo en verano''conducted by Arturo Tellez.

  5. Pier Diego Siccardi (1880-1917) and the "Clinica del Lavoro" in the trench warfare.

    PubMed

    Riva, Michele Augusto; Caramella, Michela; Turato, Massimo; Cesana, Giancarlo

    2017-12-14

    The year 2017 marks the centenary of the death of the Italian scientist Pier Diego Siccardi (1880-1917), one of Luigi Devoto's assistants at the "Clinica del Lavoro" in Milan. To commemorate Siccardi and to describe the activities of the physicians of the "Clinica del Lavoro" during World War I. A comprehensive analysis was conducted on scientific papers written by Pier Diego Siccardi and by other physicians belonging to the Clinica del Lavoro, in the period 1915-1918. During the Great War, the Clinica del Lavoro became a military hospital, even though it indirectly maintained a role in Occupational Health, assisting women who had started to work to replace the men sent to the front. Devoto and his assistants were drafted as Army doctors, but continued their research activities while at the front; focusing on the diseases that affected the soldiers, mainly infections. Bleeding fevers and jaundice were endemic among Italian troops, but their etiology was unknown. Pier Diego Siccardi identified this syndrome as an infection caused by a spirochete, and was the first one to isolate the infectious agent. Siccardi prematurely died of the same disease as a consequence of a laboratory accident, which provided further confirmation for his research. The heroic life of Siccardi and his tragic death testify the important activities of the scientists of the "Clinica del Lavoro" in the years of the Great War.

  6. DelPhiPKa web server: predicting pKa of proteins, RNAs and DNAs.

    PubMed

    Wang, Lin; Zhang, Min; Alexov, Emil

    2016-02-15

    A new pKa prediction web server is released, which implements DelPhi Gaussian dielectric function to calculate electrostatic potentials generated by charges of biomolecules. Topology parameters are extended to include atomic information of nucleotides of RNA and DNA, which extends the capability of pKa calculations beyond proteins. The web server allows the end-user to protonate the biomolecule at particular pH based on calculated pKa values and provides the downloadable file in PQR format. Several tests are performed to benchmark the accuracy and speed of the protocol. The web server follows a client-server architecture built on PHP and HTML and utilizes DelPhiPKa program. The computation is performed on the Palmetto supercomputer cluster and results/download links are given back to the end-user via http protocol. The web server takes advantage of MPI parallel implementation in DelPhiPKa and can run a single job on up to 24 CPUs. The DelPhiPKa web server is available at http://compbio.clemson.edu/pka_webserver. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  7. Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.

    PubMed

    Xiang, He-ping; Geng, Xiao-ping; Ge, Wei-wei; Li, He

    2011-11-01

    Cell cycle checkpoint kinase 2 (CHEK2) gene has been inconsistently associated with colorectal cancer (CRC), particularly the 1100delC variant. To generate large-scale evidence on whether the CHEK2 1100delC variant is associated with CRC susceptibility we have conducted a meta-analysis. Data were collected from the following electronic databases: PubMed, Excerpta Medica Database and Chinese Biomedical Literature Database, with the last report up to November 2010. The odds ratio (OR) and its 95% confidence interval (95% CI) were used to assess the strength of association. We evaluated the contrast of carriers versus non-carriers. Meta-analysis was performed in a fixed/random effect model by using the software Review Manager 4.2. A total of six studies including 4194 cases and 10,010 controls based on the search criteria were involved in this meta-analysis. A significant association of the CHEK2 1100delC variant with unselected CRC was found (OR=2.11, 95% CI=1.41-3.16, P=0.0003). We also found an association of the CHEK2 1100delC variant with familial CRC (OR=2.80, 95% CI=1.74-4.51, P<0.0001). However, the association was not established for sporadic CRC (OR=1.45, 95% CI=0.49-4.30, P=0.50). This meta-analysis demonstrates that the CHEK2 1100delC variant may be an important CRC-predisposing gene, which increases CRC risk. Copyright © 2011. Published by Elsevier Ltd.

  8. DelPhiForce web server: electrostatic forces and energy calculations and visualization.

    PubMed

    Li, Lin; Jia, Zhe; Peng, Yunhui; Chakravorty, Arghya; Sun, Lexuan; Alexov, Emil

    2017-11-15

    Electrostatic force is an essential component of the total force acting between atoms and macromolecules. Therefore, accurate calculations of electrostatic forces are crucial for revealing the mechanisms of many biological processes. We developed a DelPhiForce web server to calculate and visualize the electrostatic forces at molecular level. DelPhiForce web server enables modeling of electrostatic forces on individual atoms, residues, domains and molecules, and generates an output that can be visualized by VMD software. Here we demonstrate the usage of the server for various biological problems including protein-cofactor, domain-domain, protein-protein, protein-DNA and protein-RNA interactions. The DelPhiForce web server is available at: http://compbio.clemson.edu/delphi-force. delphi@clemson.edu. Supplementary data are available at Bioinformatics online. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

  9. DelPhi web server v2: incorporating atomic-style geometrical figures into the computational protocol.

    PubMed

    Smith, Nicholas; Witham, Shawn; Sarkar, Subhra; Zhang, Jie; Li, Lin; Li, Chuan; Alexov, Emil

    2012-06-15

    A new edition of the DelPhi web server, DelPhi web server v2, is released to include atomic presentation of geometrical figures. These geometrical objects can be used to model nano-size objects together with real biological macromolecules. The position and size of the object can be manipulated by the user in real time until desired results are achieved. The server fixes structural defects, adds hydrogen atoms and calculates electrostatic energies and the corresponding electrostatic potential and ionic distributions. The web server follows a client-server architecture built on PHP and HTML and utilizes DelPhi software. The computation is carried out on supercomputer cluster and results are given back to the user via http protocol, including the ability to visualize the structure and corresponding electrostatic potential via Jmol implementation. The DelPhi web server is available from http://compbio.clemson.edu/delphi_webserver.

  10. Los plaguicidas y la contaminacion del medio ambiente Venezolano

    USGS Publications Warehouse

    Stickel, L.F.; Stickel, W.H.

    1972-01-01

    RESUMEN DE RECOMENDACIONES Recomendaciones para el Programa de Investigacion: 1. Establecer un sistema de muestreo biologico para detectar los niveles tendencias de los productos quimicos toxicos en un peque?o numero de si tios representativos. 2. Mantener continua vigilancia de la contaminacion ambiental, mediante la seleccion acertadamente dirigida de las zonas afectadas y de las fuentes de contaminacion. 3. Realizar estudios acerca de las poblaciones de animales silvestres, y del exito de los procesos reproductivos de las especies o grupos clayes de animales que se consideran mas gravemente afectados. 4. Preparar recomendaciones para una accion gubernamental de proteccion al hombre, a la fauna silvestre y al medio ambiente. Recomendaciones para la Accion Administrativa: 1. Establecer limites a la tolerancia de los residuos de plaguicidas en los alimentos. Constituye una medida clave para disminuir la contaminacion ambiental. 2. Establecer normas de calidad del agua para las corrientes, represas, la gos y otros cuerpos. Es la segunda medida clave para reducir la contaminacion del ambiente 3. Exigir un tratamiento adecuado de los efluentes industriales, especialmente antes de que se construyan las nuevas plantas. 4. Exigir a los agricultores que en el uso de plaguicidas sigan los consejos tecnicos autorizados y negar a los vendedores el derecho a recomendar productos por su cuenta. 5. Tomar medidas para recoger y eliminar los recipientes y sobrantes de los plaguicidas.

  11. CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.

    PubMed

    Apostolou, Paraskevi; Fostira, Florentia; Papamentzelopoulou, Myrto; Michelli, Maria; Panopoulos, Christos; Fountzilas, George; Konstantopoulou, Irene; Voutsinas, Gerassimos E; Yannoukakos, Drakoulis

    2015-04-01

    The CHEK2 gene encodes a protein kinase that plays a crucial role in maintenance of genomic integrity and the DNA repair mechanism. CHEK2 germline mutations are associated with increased risk of breast cancer and other malignancies. From a clinical perspective, the most significant mutation identified is the c.1100delC mutation, which is associated with an approximately 25% lifetime breast cancer risk. The distribution of this mutation shows wide geographical variation; it is more prevalent in the Northern European countries and less common, or even absent, in Southern Europe. In order to estimate the frequency of the CHEK2 c.1100delC mutation in Greek breast cancer patients, we genotyped 2,449 patients (2,408 females and 41 males), which was the largest series ever tested for c.1100delC. The mean age of female and male breast cancer diagnosis was 49 and 59 years, respectively. All patients had previously tested negative for the Greek BRCA1 founder and recurrent mutations. The CHEK2 c.1100delC mutation was detected in 0.16% (4 of 2,408) of females, all of whom were diagnosed with breast cancer before the age of 50 years. Only one c.1100delC carrier was reported with breast cancer family history. The present study indicates that the CHEK2 c.1100delC mutation does not contribute substantially to hereditary breast cancer in patients of Greek descent. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

    PubMed Central

    Laitman, Yael; Feng, Bing-Jian; Zamir, Itay M; Weitzel, Jeffrey N; Duncan, Paul; Port, Danielle; Thirthagiri, Eswary; Teo, Soo-Hwang; Evans, Gareth; Latif, Ayse; Newman, William G; Gershoni-Baruch, Ruth; Zidan, Jamal; Shimon-Paluch, Shani; Goldgar, David; Friedman, Eitan

    2013-01-01

    The 185delAG* BRCA1 mutation is encountered primarily in Jewish Ashkenazi and Iraqi individuals, and sporadically in non-Jews. Previous studies estimated that this is a founder mutation in Jewish mutation carriers that arose before the dispersion of Jews in the Diaspora ∼2500 years ago. The aim of this study was to assess the haplotype in ethnically diverse 185delAG* BRCA1 mutation carriers, and to estimate the age at which the mutation arose. Ethnically diverse Jewish and non-Jewish 185delAG*BRCA1 mutation carriers and their relatives were genotyped using 15 microsatellite markers and three SNPs spanning 12.5 MB, encompassing the BRCA1 gene locus. Estimation of mutation age was based on a subset of 11 markers spanning a region of ∼5 MB, using a previously developed algorithm applying the maximum likelihood method. Overall, 188 participants (154 carriers and 34 noncarriers) from 115 families were included: Ashkenazi, Iraq, Kuchin-Indians, Syria, Turkey, Iran, Tunisia, Bulgaria, non-Jewish English, non-Jewish Malaysian, and Hispanics. Haplotype analysis indicated that the 185delAG mutation arose 750–1500 years ago. In Ashkenazim, it is a founder mutation that arose 61 generations ago, and with a small group of founder mutations was introduced into the Hispanic population (conversos) ∼650 years ago, and into the Iraqi–Jewish community ∼450 years ago. The 185delAG mutation in the non-Jewish populations in Malaysia and the UK arose at least twice independently. We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews. PMID:22763381

  13. Detecting a hierarchical genetic population structure via Multi-InDel markers on the X chromosome

    PubMed Central

    Fan, Guang Yao; Ye, Yi; Hou, Yi Ping

    2016-01-01

    Detecting population structure and estimating individual biogeographical ancestry are very important in population genetics studies, biomedical research and forensics. Single-nucleotide polymorphism (SNP) has long been considered to be a primary ancestry-informative marker (AIM), but it is constrained by complex and time-consuming genotyping protocols. Following up on our previous study, we propose that a multi-insertion-deletion polymorphism (Multi-InDel) with multiple haplotypes can be useful in ancestry inference and hierarchical genetic population structures. A validation study for the X chromosome Multi-InDel marker (X-Multi-InDel) as a novel AIM was conducted. Genetic polymorphisms and genetic distances among three Chinese populations and 14 worldwide populations obtained from the 1000 Genomes database were analyzed. A Bayesian clustering method (STRUCTURE) was used to discern the continental origins of Europe, East Asia, and Africa. A minimal panel of ten X-Multi-InDels was verified to be sufficient to distinguish human ancestries from three major continental regions with nearly the same efficiency of the earlier panel with 21 insertion-deletion AIMs. Along with the development of more X-Multi-InDels, an approach using this novel marker has the potential for broad applicability as a cost-effective tool toward more accurate determinations of individual biogeographical ancestry and population stratification. PMID:27535707

  14. [The Revista Médica del IMSS in the 2017 Healthcare Book Fair].

    PubMed

    Ramiro-H, Manuel; Acosta-Pérez, L; Cruz-Aranda, J E; García-Damián, J J; Miguel-Reyes, R; González-Martínez, R

    2017-01-01

    On August, the second edition of the Healthcare Book Fair took place, sponsored by the Facultad de Medicina of UNAM. Again, the Revista Médica del Instituto Mexicano del Seguro Social participated with a stand where we promoted it, talked about the different indexes where our journal is included, explained its objective and scope, and finally talked about its nature as an open access journal, which is aimed to the clinical staff of the different health institutions of our country.

  15. Resultados del relevamiento de HI en el Cielo Austral: 3. Relevamiento de Nubes de Alta Velocidad

    NASA Astrophysics Data System (ADS)

    Morras, R.; Bajaja, E.; Arnal, E. M.; Pöppel, W. G. L.

    Los resultados del relevamiento de HI del Hemisferio Austral fueron reprocesados con el fin de incrementar su sensibilidad. Así, se utilizó esta nueva base de datos con el fin de obtener un nuevo relevamiento de Nubes de Alta Velocidad en el cielo austral. El ruido r.m.s. alcanzado es de 0.015-0.020 K, con una resolución espectral de 8 km/seg. El cubrimiento espacial del relevamiento mejora en un factor 16 al realizado por Bajaja et al (1985).

  16. [La Medicina del Lavoro: 100 volumes].

    PubMed

    Zocchetti, C

    2009-01-01

    With these pages La Medicina del Lavoro starts its 100th volume, so we have yet another historical occasion to celebrate the oldest occupational health journal in the world that is still publishing. Over the last few years we have had many occasions to celebrate, for example several anniversaries of the Journal (the 80th volume in 1989, 90 years in 1992, 100 years in 2001); the centenary of the foundation of the Clinica del Lavoro "Luigi Devoto" of Milan in 2001; the celebration of the 300 years' anniversary of the publication of De Morbis Artificum Diatriba by Bernardino Ramazzini, and we obviously hope to continue for many years to come in this positive outlook. One hundred volumes makes for a very large collection, with the highs and lows ofthe Journal's history (here we mean the variations in number of pages and physical size of the Journal). It is thanks to the Editors-in-chief(there have been very few so we can cite them all: Luigi Devoto, 1901-1936; Luigi Preti, 1936-1941; Enrico Vigliani, 1943-1992; e Vito Foà, 1992 to the present); the contributors who in various ways and with varying degrees of commitment but always with an exceptional personal participation, that it has been possible to reach 100 volumes, starting with C. Moreschi who, along with Luigi Devoto, was the first and sole editor at the Journal's foundation; up to the present extended and impressive editorial board; the printers (from the first. Tipografia Cooperativa, Via dei Molini in Pavia, to the latest: Casa Editrice Mattioli in Fidenza); the sponsors, including the most evident who, via advertising (rather limited as a matter offact), directly gave information about themselves, but also those who have often been or are behind the scenes, ensuring fundamental support which is not visible; content. articles, news, events, reports, ideas, opinions, photographs, tables, numbers... etc, which are really impossible to sum up. But the true collection which, for obvious reasons, cannot be

  17. Relevamiento total del hemisferio sur celeste en la frecuencia de 1420 MHz

    NASA Astrophysics Data System (ADS)

    Bava, J. A.; Colomb, F. R.; Hurrel, E.; Larrarte, J. J.; Sanz, A. J.; Testori, J. C.; Reich, P.; Reich, W.; Wielebinski, R.

    En el presente artículo se describe el relevamiento del cielo en el Hemisferio Sur Celeste en la frecuencia de 1420 MHz para declinaciones δ<= -19o realizado con la Antena II de 30 metros de diámetro del IAR. Este relevamiento posee igual sensibilidad (3xr.m.s=50 mK) que el realizado en el Hemisferio Norte con el radiotelescopio de 25 metros de Stockert de la Universidad de Bonn, operado por el Max-Planck Institute für Radioastronomie ( Reich W., 1982, A&ASS 48, 219; Reich P. and Reich W., 1986, A&ASS 63, 205). Con los datos obtenidos por ambos radiotelescopios se posee una base de datos de todo el cielo en esta frecuencia. En esta publicación presentamos los detalles del sistema receptor, técnicas de observación y reducción de datos, calibración y discusión de los errores en los resultados.

  18. Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation

    PubMed Central

    Stefano, Daniela De; Villella, Valeria R; Esposito, Speranza; Tosco, Antonella; Sepe, Angela; Gregorio, Fabiola De; Salvadori, Laura; Grassia, Rosa; Leone, Carlo A; Rosa, Giuseppe De; Maiuri, Maria C; Pettoello-Mantovani, Massimo; Guido, Stefano; Bossi, Anna; Zolin, Anna; Venerando, Andrea; Pinna, Lorenzo A; Mehta, Anil; Bona, Gianni; Kroemer, Guido; Maiuri, Luigi; Raia, Valeria

    2014-01-01

    Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung inflammation in CftrF508del homozygous mice. Cysteamine, the reduced form of cystamine, is an FDA-approved drug. Here, we report that oral treatment with cysteamine greatly reduces the mortality rate and improves the phenotype of newborn mice bearing the F508del-CFTR mutation. Cysteamine was also able to increase the plasma membrane expression of the F508del-CFTR protein in nasal epithelial cells from F508del homozygous CF patients, and these effects persisted for 24 h after cysteamine withdrawal. Importantly, this cysteamine effect after washout was further sustained by the sequential administration of epigallocatechin gallate (EGCG), a green tea flavonoid, both in vivo, in mice, and in vitro, in primary epithelial cells from CF patients. In a pilot clinical trial involving 10 F508del-CFTR homozygous CF patients, the combination of cysteamine and EGCG restored BECN1, reduced SQSTM1 levels and improved CFTR function from nasal epithelial cells in vivo, correlating with a decrease of chloride concentrations in sweat, as well as with a reduction of the abundance of TNF/TNF-alpha (tumor necrosis factor) and CXCL8 (chemokine [C-X-C motif] ligand 8) transcripts in nasal brushing and TNF and CXCL8 protein levels in the sputum. Altogether, these results suggest that optimal schedules of cysteamine plus EGCG might be used for the treatment of CF caused by the F508del-CFTR mutation. PMID:25350163

  19. Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation.

    PubMed

    De Stefano, Daniela; Villella, Valeria R; Esposito, Speranza; Tosco, Antonella; Sepe, Angela; De Gregorio, Fabiola; Salvadori, Laura; Grassia, Rosa; Leone, Carlo A; De Rosa, Giuseppe; Maiuri, Maria C; Pettoello-Mantovani, Massimo; Guido, Stefano; Bossi, Anna; Zolin, Anna; Venerando, Andrea; Pinna, Lorenzo A; Mehta, Anil; Bona, Gianni; Kroemer, Guido; Maiuri, Luigi; Raia, Valeria

    2014-01-01

    Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung inflammation in Cftr(F508del) homozygous mice. Cysteamine, the reduced form of cystamine, is an FDA-approved drug. Here, we report that oral treatment with cysteamine greatly reduces the mortality rate and improves the phenotype of newborn mice bearing the F508del-CFTR mutation. Cysteamine was also able to increase the plasma membrane expression of the F508del-CFTR protein in nasal epithelial cells from F508del homozygous CF patients, and these effects persisted for 24 h after cysteamine withdrawal. Importantly, this cysteamine effect after washout was further sustained by the sequential administration of epigallocatechin gallate (EGCG), a green tea flavonoid, both in vivo, in mice, and in vitro, in primary epithelial cells from CF patients. In a pilot clinical trial involving 10 F508del-CFTR homozygous CF patients, the combination of cysteamine and EGCG restored BECN1, reduced SQSTM1 levels and improved CFTR function from nasal epithelial cells in vivo, correlating with a decrease of chloride concentrations in sweat, as well as with a reduction of the abundance of TNF/TNF-alpha (tumor necrosis factor) and CXCL8 (chemokine [C-X-C motif] ligand 8) transcripts in nasal brushing and TNF and CXCL8 protein levels in the sputum. Altogether, these results suggest that optimal schedules of cysteamine plus EGCG might be used for the treatment of CF caused by the F508del-CFTR mutation.

  20. Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.

    PubMed

    Marson, Fernando Augusto de Lima; Bertuzzo, Carmen Silvia; Ribeiro, Maria Ângela Gonçalves de Oliveira; Ribeiro, Antônio Fernando; Ribeiro, José Dirceu

    2013-01-01

    To determine the relevance of screening for the F508del mutation of the cystic fibrosis transmembrane conductance regulator gene as a first step in the genetic diagnosis of cystic fibrosis (CF) by associating the genotype with various clinical variables. We evaluated 180 CF patients regarding the F508del mutation. The clinical data were obtained from the medical records of the patients and from interviews with their parents or legal guardians. Of the 180 patients studied, 65 (36.1%) did not carry the F508del mutation (group 0 [G0]), 67 (37.2%) were F508del heterozygous (G1), and 48 (26.7%) were F508del homozygous (G2). All three groups showed associations with the clinical variables. Homozygosis was associated with younger patients, younger age at CF diagnosis, and younger age at the first isolation of Pseudomonas aeruginosa (PA), as well as with higher prevalence of pancreatic insufficiency (PI) and non-mucoid PA (NMPA) colonization. In comparison with G1+G2 patients, G0 patients were older; first experienced clinical symptoms, digestive disease, and pulmonary disease at an older age; were older at CF diagnosis and at first PA isolation; and had a lower prevalence of PI and meconium ileus, as well as of colonization by NMPA, mucoid PA, and Burkholderia cepacia. In G1 patients, values were intermediate for age at CF diagnosis; age at first PA isolation, first pulmonary symptoms, and first clinical manifestations; MPA colonization; and OR for PI. The identification of F508del in 63.9% of the patients studied showed that this can be a useful tool as a first step in the genetic diagnosis of CF. The F508del genotype was associated with clinical severity of the disease, especially with the variables related to CF onset.

  1. Identificación de los miembros del cúmulo NGC 2516

    NASA Astrophysics Data System (ADS)

    de Elía, G. C.; Orellana, R. B.

    El cúmulo abierto NGC 2516 (α = 7h 58m y δ = -60o 45') tiene una edad de, aproximadamente, 150 Myr. El análisis de este sistema es particularmente importante en el Hemisferio Sur debido a su abundancia de estrellas peculiares y muy estudiado aplicando técnicas fotométricas, pero muy poco analizado desde el punto de vista astrométrico. A partir de una placa obtenida en el Observatorio Astronómico de La Plata y observaciones más actuales, nos hemos abocado al estudio de los movimientos propios de este cúmulo con el fin de determinar la pertenencia al mismo de las estrellas del campo de dicho cúmulo. Luego de llevar a cabo la determinación de los movimientos propios de todas las estrellas a partir de las posiciones obtenidas de la placa existente en el Observatorio de La Plata de 1914 y leídas con la MAMA en París, las observaciones realizadas con el círculo meridiano de San Fernando que se encuentra en el Observatorio Félix Aguilar de San Juan y las posiciones existentes en los catálogos AC 2000, Tycho, USNO y UCAC, programamos el método de Vasilevsky y Sanders para determinar la pertenencia de las estrellas de la región al cúmulo en cuestión. En un paso posterior, se realizó una modificación al método anterior para la determinación de los miembros. En esta modificación se consideró la densidad de las estrellas del cúmulo y la densidad de estrellas de campo. Esto permitió evaluar la pertenencia, no sólo a partir del movimiento propio de las estrellas, sino también a partir de la posición de las mismas con respecto al centro del cúmulo. También se consideró la dependencia de los parámetros con la magnitud. Los resultados así obtenidos fueron comparados con otras investigaciones de movimientos propios de la región del cúmulo. El movimiento propio absoluto del cúmulo fue comparado con el obtenido a partir de los catálogos estelares. Se encontró que los resultados coincidían para estrellas brillantes (magnitud más brillante que

  2. Modeling visibility in the Paso del Norte (PDN) Region

    NASA Astrophysics Data System (ADS)

    Medina Calderon, Richard

    Poor visibility is a subject of growing public concern throughout the U.S, and an active area of research. Its societal impacts on air quality, aviation transport and traffic are significant. Aerosols play a fundamental role in the attenuation of solar radiation, and also affect visibility. The scattering and extinction coefficients of aerosol particles in the Paso del Norte Region have been calculated using the T- matrix model in conjunction with a laser particle counter. Inter-comparison of the model's results of the scattering and absorption coefficients against the corresponding data from a Photoacustic extinctiometer instrument (which measures in-situ absorption and scattering coefficients of aerosol particles) shows excellent agreement. In addition, the volume-weighted method is used to determine the composite index of refraction which is representative of the aerosols for the Paso del Norte Region to obtain information of the type of aerosol particles present in the Region. The Single Scattering Albedo has also been retrieved using this methodology to obtain further insight into the type of aerosols present on a given day. Finally, the Koschmieder equation has been used to calculate the visual range or visibility, and was correlated with the PM2.5 and PM10 particle concentration present in the Region. Our methodology will allow a better understanding of the size and type of aerosol particles that are most detrimental to the visibility for the Paso Del Norte Region.

  3. Highly preferential association of NonF508del CF mutations with the M470 allele.

    PubMed

    Ciminelli, B M; Bonizzato, A; Bombieri, C; Pompei, F; Gabaldo, M; Ciccacci, C; Begnini, A; Holubova, A; Zorzi, P; Piskackova, T; Macek, M; Castellani, C; Modiano, G; Pignatti, P F

    2007-01-01

    On the basis of previous findings on random individuals, we hypothesized a preferential association of CF causing mutations with the M allele of the M470V polymorphic site of the CFTR gene. We have determined the M/V-CF mutation haplotype in a series of 201 North East Italian and 73 Czech CF patients who were not F508del homozygotes, as F508del was already known to be fully associated with the M allele. Out of 358 not F508del CF genes, 84 carried the V allele and 274 the less common M allele. In the N-E Italian population, MM subjects have a risk of carrying a CF causing mutation 6.9x greater than VV subjects when F508del is excluded and 15.4x when F508del is included. In the Czech population a similar, although less pronounced, association is observed. Besides the possible biological significance of this association, the possibility of exploiting it for a pilot screening program has been explored in a local North East Italian population for which CF patients were characterized for their CF mutation. General M470V genotyping followed by common CF mutation screening limited to couples in which each partner carries at least one M allele would need testing only 39% of the couples, which contribute 89% of the total risk, with a cost benefit.

  4. Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

    PubMed Central

    Hogervorst, Frans; van Hien, Richard; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel A.; Meijers, Hanne; Waisfisz, Quinten; Hollestelle, Antoinette; Schutte, Mieke; van den Ouweland, Ans; Hooning, Maartje; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Antoniou, Antonis C.; Arndt, Volker; Bermisheva, Marina; Bogdanova, Natalia V.; Bolla, Manjeet K.; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Dunning, Alison M.; Fasching, Peter A.; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G.; Haeberle, Lothar; Hall, Per; Hillemanns, Peter; Hopper, John L.; Jakubowska, Anna; John, Esther M.; Jones, Michael; Khusnutdinova, Elza; Knight, Julia A.; Kosma, Veli-Matti; Kristensen, Vessela; Lee, Andrew; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Meindl, Alfons; Milne, Roger L.; Muranen, Taru A.; Newcomb, Polly A.; Offit, Kenneth; Park-Simon, Tjoung-Won; Peto, Julian; Pharoah, Paul D.P.; Robson, Mark; Rudolph, Anja; Sawyer, Elinor J.; Schmutzler, Rita K.; Seynaeve, Caroline; Soens, Julie; Southey, Melissa C.; Spurdle, Amanda B.; Surowy, Harald; Swerdlow, Anthony; Tollenaar, Rob A.E.M.; Tomlinson, Ian; Trentham-Dietz, Amy; Vachon, Celine; Wang, Qin; Whittemore, Alice S.; Ziogas, Argyrios; van der Kolk, Lizet; Nevanlinna, Heli; Dörk, Thilo; Bojesen, Stig; Easton, Douglas F.

    2016-01-01

    Purpose CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. Patients and Methods CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies. Results Proportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center–based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10−20). The OR was higher for estrogen receptor (ER)–positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10−21]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10−4). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. Conclusion These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into

  5. Estudio fenomenologico del conocimiento curricular y conocimiento de contenido en maestros de matematica a nivel secundario

    NASA Astrophysics Data System (ADS)

    Cardona Tomassini, Ivan Javier

    En esta investigacion se estudio el fenomeno del conocimiento de contenido y el conocimiento curricular de maestros de matermaticas y como estos dos componentes se reflejan en su conocimiento pedagogico del contenido. El conocimiento de contenido es el conocimiento que tienen los maestros de los contenidos de una disciplina y sobre la estructura de su organizacion (Shulman, 1986). El conocimiento curricular es el conocimiento que los maestros poseen sobre los componentes de un curriculo disenado para ensenar un topico de una materia especifica a un nivel particular, la variedad de instrumentos instruccionales disponibles para implementar el mismo y como utilizar los instrumentos curriculares disponibles (Ball & Bass, 2003; Choppin, 2009; Hill, Rowan, & Ball, 2005). Este estudio se enmarca en el paradigma cualitativo, teniendo como diseno el estudio fenomenologico (Lucca y Berrios, 2009; McMillan, 2004). Los participantes fueron seis maestros de matermaticas del nivel superior (10mo a 12mo grado). Al momento de la investigacion los participantes ensenaban en escuelas publicas o privadas de Puerto Rico. Para recolectar la informacion se utilizo un grupo focal en donde los maestros resolvieron seis ejercicios matematicos y posteriormente reflexionaron en forma grupal sobre las soluciones. Tambien se realizo un analisis de documentos de planificacion y se llevaron a cabo entrevistas semiestructuradas. Se exploraron los contenidos relacionados a la ecuacion de una recta, rectas verticales y horizontales, suma y multiplicacion de polinomios, resolucion de ecuaciones cuadraticas y distancia entre dos puntos del plano cartesiano. Los resultados muestran que los participantes tienen dominio procesal de los contenidos correspondientes a las rectas verticales y horizontales, la suma y multiplicacion de polinomios, el calculo distancia entre dos puntos del plano cartesiano. Sin embargo, se noto cierta dificultad en la explicacion conceptual de los contenidos relacionados a la

  6. Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.

    PubMed

    Schmidt, Marjanka K; Hogervorst, Frans; van Hien, Richard; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel A; Meijers, Hanne; Waisfisz, Quinten; Hollestelle, Antoinette; Schutte, Mieke; van den Ouweland, Ans; Hooning, Maartje; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Antoniou, Antonis C; Arndt, Volker; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Dunning, Alison M; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G; Haeberle, Lothar; Hall, Per; Hillemanns, Peter; Hopper, John L; Jakubowska, Anna; John, Esther M; Jones, Michael; Khusnutdinova, Elza; Knight, Julia A; Kosma, Veli-Matti; Kristensen, Vessela; Lee, Andrew; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Meindl, Alfons; Milne, Roger L; Muranen, Taru A; Newcomb, Polly A; Offit, Kenneth; Park-Simon, Tjoung-Won; Peto, Julian; Pharoah, Paul D P; Robson, Mark; Rudolph, Anja; Sawyer, Elinor J; Schmutzler, Rita K; Seynaeve, Caroline; Soens, Julie; Southey, Melissa C; Spurdle, Amanda B; Surowy, Harald; Swerdlow, Anthony; Tollenaar, Rob A E M; Tomlinson, Ian; Trentham-Dietz, Amy; Vachon, Celine; Wang, Qin; Whittemore, Alice S; Ziogas, Argyrios; van der Kolk, Lizet; Nevanlinna, Heli; Dörk, Thilo; Bojesen, Stig; Easton, Douglas F

    2016-08-10

    CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies. Proportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10(-20)). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10(-21)]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10(-4)). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up. © 2016

  7. Effect of the F508del genotype on outcomes of endoscopic sinus surgery in children with cystic fibrosis.

    PubMed

    Do, Bao Anh Julie; Lands, Larry C; Saint-Martin, Christine; Mascarella, Marco A; Manoukian, John J; Daniel, Sam J; Nguyen, Lily H P

    2014-07-01

    Numerous authors have sought to describe genotype-phenotype correlations in cystic fibrosis (CF), notably to pancreatic insufficiency and lung disease. However, few studies have focused on the association between the F508del genotype and response to sinus surgery. The objective of this study is to assess the effect of the F508del genotype on sinonasal disease severity and outcomes following functional endoscopic sinus surgery (FESS) in a pediatric population. A retrospective chart review of 153 children with CF seen at a tertiary care pediatric hospital from 1995 to 2008 was performed. Patients were classified into one of three groups according to F508del genotype, either as homozygous, heterozygous or not carrying a F508del mutation. The sinonasal disease phenotype of the three groups was compared based on clinical and radiological findings, extent of endoscopic sinus surgery and rate of revision surgery. The relationship between the F508del genotype and pancreatic insufficiency was confirmed (p<0.05). There was no association between the F508del genotype and increased need for FESS (p=0.75). Moreover, no association was established between F508del homozygosity and presence of nasal polyps, Lund-Mackay score, extent of surgery or length of postoperative hospitalization. The rates of revision surgery did not differ significantly among the three genotypes analyzed (p=0.59). There is no clear association between the F508del genotype and an increased need for FESS, extent of surgery, or revision surgery. Given the phenotypic variability of sinonasal disease in patients with CF, a prospective study is needed to better understand outcomes following FESS and the contribution of gene modifiers to this effect. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  8. [Seventy years of medicine in the Instituto Mexicano del Seguro Social].

    PubMed

    Fajardo-Ortiz, Guillermo

    2014-01-01

    The purpose of these lines is to remember and refer some of the historical landmarks in the evolution of the medical services of the Instituto Mexicano del Seguro Social (IMSS, according to its initials in Spanish) since it was founded, in 1943. We also want to bring to the reader's attention that the dimensions and impacts on health that IMSS has achieved, throughout its history, have strengthened the citizenship, as well as social sustainability. Also, those impacts have determined the creation and the reinforcement of human capital in México. Throughout this concise balance, all the controversy surrounding the foundation of the Institute is being recalled (the protest in the Mexico City Zócalo, or the attack to an hospital in San Ángel -a neighborhood located in the Southwest of Mexico City-), as well as the way the IMSS incorporated several words into the vocabulary of Mexicans. We also remember the previous antecedent of the Revista Médica del Instituto Mexicano del Seguro Social, as well as the Revista de Enfermería, and the emblematic Archives of Medical Research. The IMSS has 70 years of achievements, seven decades covered.

  9. Medición de densidades medias de meteoritos: test del método de inmersión

    NASA Astrophysics Data System (ADS)

    Steren, G.

    Se evaluó una técnica simple para medir las densidades medias de meteoritos, basada en el Método de Arquímedes y que utiliza cuentas de vidrio de 40μ en lugar de un fluído esto presenta la ventaja de no ser intrusivo ni químicamente reactivo (D.Britt and G.Consolmagno, 1996, B.A.A.S.28,1106). El estudio, realizado en junio de este año por participantes de la VI Escuela de Verano del Observatorio del Vaticano, empleó 37 muestras de la colección del Observatorio del Vaticano, de las cuales 26 eran Condritas, 1 Pallasita y 1 Howardita; algunas de ellas ya habian sido estudiadas por otras técnicas aunque también se incluyeron muestras no estudiadas anteriormente.

  10. A chemical corrector modifies the channel function of F508del-CFTR.

    PubMed

    Kim Chiaw, Patrick; Wellhauser, Leigh; Huan, Ling Jun; Ramjeesingh, Mohabir; Bear, Christine E

    2010-09-01

    The deletion of Phe-508 (F508del) constitutes the most prevalent cystic fibrosis-causing mutation. This mutation leads to cystic fibrosis transmembrane conductance regulator (CFTR) misfolding and retention in the endoplasmic reticulum and altered channel activity in mammalian cells. This folding defect can however be partially overcome by growing cells expressing this mutant protein at low (27 degrees C) temperature. Chemical "correctors" have been identified that are also effective in rescuing the biosynthetic defect in F508del-CFTR, thereby permitting its functional expression at the cell surface. The mechanism of action of chemical correctors remains unclear, but it has been suggested that certain correctors [including 4-cyclohexyloxy-2-(1-[4-(4-methoxy-benzenesulfonyl)-piperazin-1-yl]-ethyl)-quinazoline (VRT-325)] may act to promote trafficking by interacting directly with the mutant protein. To test this hypothesis, we assessed the effect of VRT-325 addition on the channel activity of F508del-CFTR after its surface expression had been "rescued" by low temperature. It is noteworthy that short-term pretreatment with VRT-325 [but not with an inactive analog, 4-hydroxy-2-(1-[4-(4-methoxy-benzenesulfonyl)-piperazin-1-yl]-ethyl)-quinazoline (VRT-186)], caused a modest but significant inhibition of cAMP-mediated halide flux. Furthermore, VRT-325 decreased the apparent ATP affinity of purified and reconstituted F508del-CFTR in our ATPase activity assay, an effect that may account for the decrease in channel activity by temperature-rescued F508del-CFTR. These findings suggest that biosynthetic rescue mediated by VRT-325 may be conferred (at least in part) by direct modification of the structure of the mutant protein, leading to a decrease in its ATP-dependent conformational dynamics. Therefore, the challenge for therapy discovery will be the design of small molecules that bind to promote biosynthetic maturation of the major mutant without compromising its activity in

  11. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

    PubMed

    Bamforth, J S; Lin, C C

    1997-12-31

    DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).

  12. Cirugía de los trastornos del comportamiento: el estado del arte

    PubMed Central

    Yampolsky, Claudio; Bendersky, Damián

    2014-01-01

    Introducción: La cirugía de los trastornos del comportamiento (CTC) se está convirtiendo en un tratamiento más común desde el desarrollo de la neuromodulación. Métodos: Este artículo es una revisión no sistemática de la historia, indicaciones actuales, técnicas y blancos quirúrgicos de la CTC. Dividimos su historia en 3 eras: la primera comienza en los inicios de la psicocirugía y termina con el desarrollo de las tícnicas estereotácticas, cuando comienza la segunda era. Ésta se caracteriza por la realización de lesiones estereotácticas. Nos encontramos transitando la tercera era, que comienza cuando la estimulación cerebral profunda (ECP) comienza a ser usada en CTC. Resultados: A pesar de los errores graves cometidos en el pasado, hoy en día, la CTC está renaciendo. Los trastornos psiquiátricos que se más frecuentemente se tratan con cirugía son: depresión refractaria, trastorno obsesivo-compulsivo y síndrome de Tourette. Además, algunos pacientes con agresividad fueron tratados quirúrgicamente. Hay varios blancos estereotácticos descriptos para estos trastornos. La estimulación vagal puede ser usada también para depresión. Conclusión: Los resultados de la ECP en estos trastornos parecen alentadores. Sin embargo, se necesitan más estudios randomizados para establecer la efectividad de la CTC. Debe tenerse en cuenta que una apropiada selección de pacientes nos ayudará a realizar un procedimiento más seguro así como también a lograr mejores resultados quirúrgicos, conduciendo a la CTC a ser más aceptada por psiquiatras, pacientes y sus familias. Se necesita mayor investigación en varios temas como: fisiopatología de los trastornos del comportamiento, indicaciones de CTC y nuevos blancos quirúrgicos. PMID:25165612

  13. Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases.

    PubMed

    Adank, Muriel A; Verhoef, Senno; Oldenburg, Rogier A; Schmidt, Marjanka K; Hooning, Maartje J; Martens, John W M; Broeks, Annegien; Rookus, Matti; Waisfisz, Quinten; Witte, Birgit I; Jonker, Marianne A; Meijers-Heijboer, Hanne

    2013-05-01

    The CHEK2∗1100delC mutation confers a relative risk of two for breast cancer (BC) in the general population. This study aims to explore the excess cancer risk due to the CHEK2∗1100delC mutation within a familial non-BRCA1/2 breast cancer setting. Cancer incidences were compared between first degree relatives of 107 familial breast cancer patients positive for the CHEK2∗1100delC mutation (CHEK2 positive families) and first degree relatives of 314 familial breast cancer patients without the CHEK2∗1100delC mutation (CHEK2 negative families). All families were derived from the same pool of familial non-BRCA1/2 breast cancer families (n=2554). Medical information of 2188 first degree relatives of these families was analysed for cancer risk. CHEK2∗1100delC status of relatives was unknown. Increased breast cancer risk (hazard ratio (HR) 2.0 (95% confidence interval (CI): 1.4-2.7), p<0.001) was observed in sisters of CHEK2∗1100delC positive index cases compared to sisters of CHEK2∗1100delC negative index cases. HR was 1.6 (95% CI: 1.0-2.4) for mothers of CHEK2 positive versus negative index cases (p=0.041). For second primary breast cancers HR was increased in CHEK2∗1100delC positive index cases (HR 2.1, 95% CI: 1.3-3.3, p=0.003) and their sisters (HR 2.6, 95% CI: 1.1-6.1, p=0.025). There is an excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive non-BRCA1/2 familial breast cancer patients compared to non-CHEK2∗1100delC familial breast cancer relatives. Genotyping for the CHEK2∗1100delC mutation in a familial breast cancer setting contributes to optimal clinical surveillance in countries in which this mutation is prevalent. Carriers and female relatives are eligible for stringent breast surveillance programs. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. Species identification in forensic samples using the SPInDel approach: A GHEP-ISFG inter-laboratory collaborative exercise.

    PubMed

    Alves, Cíntia; Pereira, Rui; Prieto, Lourdes; Aler, Mercedes; Amaral, Cesar R L; Arévalo, Cristina; Berardi, Gabriela; Di Rocco, Florencia; Caputo, Mariela; Carmona, Cristian Hernandez; Catelli, Laura; Costa, Heloísa Afonso; Coufalova, Pavla; Furfuro, Sandra; García, Óscar; Gaviria, Anibal; Goios, Ana; Gómez, Juan José Builes; Hernández, Alexis; Hernández, Eva Del Carmen Betancor; Miranda, Luís; Parra, David; Pedrosa, Susana; Porto, Maria João Anjos; Rebelo, Maria de Lurdes; Spirito, Matteo; Torres, María Del Carmen Villalobos; Amorim, António; Pereira, Filipe

    2017-05-01

    DNA is a powerful tool available for forensic investigations requiring identification of species. However, it is necessary to develop and validate methods able to produce results in degraded and or low quality DNA samples with the high standards obligatory in forensic research. Here, we describe a voluntary collaborative exercise to test the recently developed Species Identification by Insertions/Deletions (SPInDel) method. The SPInDel kit allows the identification of species by the generation of numeric profiles combining the lengths of six mitochondrial ribosomal RNA (rRNA) gene regions amplified in a single reaction followed by capillary electrophoresis. The exercise was organized during 2014 by a Working Commission of the Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG), created in 2013. The 24 participating laboratories from 10 countries were asked to identify the species in 11 DNA samples from previous GHEP-ISFG proficiency tests using a SPInDel primer mix and control samples of the 10 target species. A computer software was also provided to the participants to assist the analyses of the results. All samples were correctly identified by 22 of the 24 laboratories, including samples with low amounts of DNA (hair shafts) and mixtures of saliva and blood. Correct species identifications were obtained in 238 of the 241 (98.8%) reported SPInDel profiles. Two laboratories were responsible for the three cases of misclassifications. The SPInDel was efficient in the identification of species in mixtures considering that only a single laboratory failed to detect a mixture in one sample. This result suggests that SPInDel is a valid method for mixture analyses without the need for DNA sequencing, with the advantage of identifying more than one species in a single reaction. The low frequency of wrong (5.0%) and missing (2.1%) alleles did not interfere with the correct species identification, which demonstrated the

  15. Rescue of murine F508del CFTR activity in native intestine by low temperature and proteasome inhibitors.

    PubMed

    Wilke, Martina; Bot, Alice; Jorna, Huub; Scholte, Bob J; de Jonge, Hugo R

    2012-01-01

    Most patients with Cystic Fibrosis (CF) carry at least one allele with the F508del mutation, resulting in a CFTR chloride channel protein with a processing, gating and stability defect, but with substantial residual activity when correctly sorted to the apical membranes of epithelial cells. New therapies are therefore aimed at improving the folding and trafficking of F508del CFTR, (CFTR correctors) or at enhancing the open probability of the CFTR chloride channel (CFTR potentiators). Preventing premature breakdown of F508del CFTR is an alternative or additional strategy, which is investigated in this study. We established an ex vivo assay for murine F508del CFTR rescue in native intestinal epithelium that can be used as a pre-clinical test for candidate therapeutics. Overnight incubation of muscle stripped ileum in modified William's E medium at low temperature (26°C), and 4 h or 6 h incubation at 37°C with different proteasome inhibitors (PI: ALLN, MG-132, epoxomicin, PS341/bortezomib) resulted in fifty to hundred percent respectively of the wild type CFTR mediated chloride secretion (forskolin induced short-circuit current). The functional rescue was accompanied by enhanced expression of the murine F508del CFTR protein at the apical surface of intestinal crypts and a gain in the amount of complex-glycosylated CFTR (band C) up to 20% of WT levels. Sustained rescue in the presence of brefeldin A shows the involvement of a post-Golgi compartment in murine F508del CFTR degradation, as was shown earlier for its human counterpart. Our data show that proteasome inhibitors are promising candidate compounds for improving rescue of human F508del CFTR function, in combination with available correctors and potentiators.

  16. CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

    PubMed

    Weischer, Maren; Heerfordt, Ida M; Bojesen, Stig E; Eigentler, Thomas; Garbe, Claus; Röcken, Martin; Hölmich, Lisbet Rosenkrantz; Schmidt, Henrik; Klyver, Helle; Bastholt, Lars; Nordestgaard, Børge G

    2012-02-01

    It is possible that reduced function of DNA repair and cell-cycle control genes increases the individual susceptibility to malignant melanoma. As CHEK2 is a cell-cycle master controller, we tested the hypothesis that heterozygosity for the frameshift alteration CHEK2*1100delC is associated with increased risk of malignant melanoma. First, we performed case-control studies of 1,152 Danish and 752 German individuals with malignant melanoma compared with 9,142 Danish and 3,718 German controls. Second, we performed a meta-analysis of CHEK2*1100delC and malignant melanoma, involving 2,619 cases and 17,481 controls. Third, we examined the risk of malignant melanoma associated with CHEK2*1100delC heterozygosity in an analysis stratified for sun exposure, as well as for subtype and location on the body. The odds ratios for malignant melanoma for CHEK2(*)1100del heterozygotes compared with those for noncarriers were 2.01 (95% confidence interval (CI), 1.03-3.91) in Danes, 1.42 (95% CI, 0.46-4.31) in Germans, and 1.79 (95% CI, 1.02-3.17) in Danes and Germans combined. In a meta-analysis, the odds ratio of malignant melanoma for CHEK2*1100delC heterozygotes compared with that for noncarriers was 1.81 (95% CI, 1.07-3.05). Stratifications did not alter these results. CHEK2*1100delC heterozygotes have a twofold risk of malignant melanoma compared with noncarriers.

  17. Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America.

    PubMed

    Iniesta, Maria D; Gorin, Michael A; Chien, Ling-Chen; Thomas, Samantha M; Milliron, Kara J; Douglas, Julie A; Merajver, Sofia D

    2010-10-15

    The CHEK2*1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been described in Northern and Eastern European countries; the frequency may be much lower in North America. In this study, our aim was to determine the frequency of CHEK2*1100delC in members of breast cancer families who tested negative for a deleterious mutation in BRCA1/2 at the University of Michigan Comprehensive Cancer Center. We genotyped 102 members from 90 families for CHEK2*1100delC. Most of these families had several cases of breast cancer or ovarian cancer (or both), as well as multiple members with other cancer types in a single lineage. No CHEK2*1100delC mutations were detected in any of the 102 individuals, including 51 women diagnosed with breast cancer at an early age (<45 years), 8 women with bilateral breast cancer, 3 men with breast cancer, and 8 women with ovarian cancer. Our data are consistent with the reported very low frequency of CHEK2*1100delC mutations in North American populations (compared with Northern Europe), rendering CHEK2*1100delC such an unlikely culprit in BRCA1/2 negative families that routine testing of these families appears unwarranted. Copyright © 2010 Elsevier Inc. All rights reserved.

  18. Mini-mastoidectomía para anastomosis hipogloso-facial con sección parcial del nervio hipogloso

    PubMed Central

    Campero, Álvaro; Ajler, Pablo; Socolovsky, Mariano; Martins, Carolina; Rhoton, Albert

    2012-01-01

    Introducción: La anastomosis hipogloso-facial es la técnica de elección para la reparación de la parálisis facial cuando no se dispone de un cabo proximal sano del nervio facial. La técnica de anastomosis mediante fresado mastoideo y sección parcial del hipogloso minimiza la atrofia lingual sin sacrificar resultados a nivel facial. Método: La porción mastoidea del nervio facial transcurre por la pared anterior de la AM, a un promedio de 18+/-3 mm de profundidad respecto de la pared lateral. Se debe reconocer la cresta supramastoidea, desde la cual se marca una línea vertical paralela al eje mayor de la AM, 1 cm por detrás de la pared posterior del CAE El fresado se comienza desde la línea medio mastoidea hasta la pared posterior del CAE. Una vez encontrado el nervio facial en el tercio medio del canal mastoideo, el mismo es seguido hacia proximal y distal. Resultados: El abordaje descripto permite acceder al nervio facial intratemporal en su porción mastoidea, y efectuar un fresado óseo sin poner en riesgo al nervio o a estructuras vasculares cercanas. Se trata de un procedimiento técnicamente más sencillo que los abordajes amplios habitualmente utilizados al hueso temporal; no obstante su uso debe ser restringido mayormente a la anastomosis hipogloso-facial. Conclusión: Esta es una técnica relativamente sencilla, que puede ser reproducida por cirujanos sin mayor experiencia en el tema, luego de su paso por el laboratorio de anatomía. PMID:23596555

  19. Reproductive biology of the Del Norte salamander (Plethodon elongatus).

    Treesearch

    Clara A. Wheeler; Hartwell H. Welsh Jr.; Lisa M. Ollivier

    2013-01-01

    We examined seasonal reproductive patterns of the Del Norte Salamander, Plethodon elongatus, in mixed conifer and hardwood forests of northwestern California and southwestern Oregon. Seasonal size differences in reproductive structures suggested that maximum spermatogenic activity occurred during the late summer, with spermatozoa transfer to the...

  20. New records of fishes at Isla del Coco, Costa Rica

    USGS Publications Warehouse

    Garrison, V.H.

    1996-01-01

    Isla del Coco lies at 5 degrees 32'N latitude, 87 degrees 04'W longitude and is the sole peak of the Cocos Ridge exposed above sea level. This isolated island formed approximately 2 million years ago. It rises 575 m above the surface of the sea and covers 46 km2 (Castillo et aI., 1988). Five hundred km to the NNE is Costa Rica; 630 km SSW are the Galapagos Islands; 650 km to the E is Isla Malpelo, Colombia; and approximately 8,000 km W lie the Line Islands. Costa Rica claimed Isla del Coco in 1832 and declared it a National Park in 1978. The area of the park was increased to include the adjacent waters 5 km offshore in 1984 and 25 km offshore in 1991.

  1. The CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the latvian population.

    PubMed

    Plonis, J; Kalniete, D; Nakazawa-Miklasevica, M; Irmejs, A; Vjaters, E; Gardovskis, J; Miklasevics, E

    2015-12-01

    Our objective was to determine: 1) whether the checkpoint kinase 2 ( CHEK2 ) del5395 (g.27417113-27422508 del, NC_000022.11) is a founder mutation in the Latvian population, 2) if there is an association between CHEK2 del5395 mutation and cancer risk, and 3) and whether the CHEK2 del5395 mutation impacts cancer predisposition in Chernobyl disaster liquidators (the civil and military personnel who were called upon to deal with consequences of the 1986 nuclear disaster) as well as geriatric populations. We recruited 438 breast cancer patients, 568 colorectal cancer patients, 399 ovarian cancer patients, 419 prostate cancer patients, 526 healthy blood donors, 480 Chernobyl disaster liquidators and 444 geriatric cancer-free participants. DNA samples were isolated from blood samples and subjected to multiplex polymerase chain reaction (PCR). The truncation of del5395 was estimated by fragment size of the multiplex PCR.All groups were compared to the healthy blood donors using Fisher's exact test. All p values were two-sided and the odds ratios (OR) calculated by two-by-two table. In cancer groups, the del5395 mutation was most frequently observed in the ovarian cancer group (1.00%, OR = 1.32). In control groups, the del5395 mutation was most frequent (0.76%) in the healthy donors, which exceeded its frequency in the Chernobyl liquidators group and the geriatric group by 0.01 and 0.08%, respectively. For all groups, the OR appeared to be >1 only in ovarian cancer patients. However, OR rates showed no statistical significance in either cancer or control groups, with the p value fluctuating within the range of 0.39-1.00. The CHEK2 gene del5395 is a founder mutation in the Latvian population, which, however, does not have a direct impact on genetic predisposition toward colorectal, breast, ovarian and prostate cancer.

  2. Seguridad del paciente en Radioterapia Intraoperatoria: Impacto de los elementos controlados por el Radiofisico

    NASA Astrophysics Data System (ADS)

    Tarjuelo, Juan Lopez

    Introduccion: En la administracion de la radioterapia intervienen profesionales y equipos de tratamiento, por lo que existe el riesgo de error y se precisa que dicho equipamiento funcione conforme a lo esperado. A los radiofisicos les corresponde participar en las actividades de garantia o aseguramiento de la calidad, incluyendo el control de calidad de los equipos, y en la evaluacion de los riesgos asociados. La radioterapia intraoperatoria (RIO) es una tecnica radioterapica de intensificacion de dosis, altamente selectiva, dirigida a volumenes anatomicos restringidos durante el tratamiento quirurgico oncologico, basada en la administracion de una dosis absorbida alta por medio de un haz de electrones tras el examen visual directo del lecho tumoral. Como incorporar los ultimos avances en el refuerzo de la seguridad en radioterapia es una tarea ambiciosa y compleja, resulta mas concreta y de inmediata aplicacion su introduccion en la RIO. El objetivo es analizar los elementos que reducen los riesgos y aumentan la seguridad en la RIO y su dosimetria, y valorar la funcion del radiofisico en esta labor. Material y metodos: Se emplearon el planificador Radiance de GMV y el acelerador lineal de los tratamientos de RIO Elekta Precise, controlado con el verificador diario de haces Daily QA Check 1090 y medido con las camaras de ionizacion PPC 40, FC65-G y FC65-P de PTW-Freiburg, a su vez verificadas con fuentes radiactivas adecuadas de estroncio-90 modelos CDP y CDC de IBA Dosimetry. Se realizo un analisis de modos de fallo y efectos (failure mode and effect analysis, FMEA) con el fin de identificar los elementos que forman la RIO y aplicar las herramientas necesarias para la minimizacion de los riesgos y la mejora de la seguridad en la tecnica. Se estudiaron las verificaciones diarias de dicho acelerador Precise con el control estadistico de procesos (statistical process control, SPC) y se simularon intervenciones para devolverlo al estado llamado en control. El SPC

  3. Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.

    PubMed

    Liang, Mingming; Zhang, Yun; Sun, Chenyu; Rizeq, Feras Kamel; Min, Min; Shi, Tingting; Sun, Yehuan

    2018-06-16

    The association between the checkpoint kinase 2*1100delC (CHEK2*1100delC) and breast cancer has been extensively explored. In light of the recent publication of studies on these specific findings, particularly regarding male patients with breast cancer, we performed an updated meta-analysis to investigate a more reliable estimate. This meta-analysis included 26 published studies selected in a search of electronic databases up to January 2018, including 118,735 breast cancer cases and 195,807 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the association between 1100delC and breast cancer. Meta-analysis results suggested that 1100delC contributed to an increased breast cancer risk in overall populations (OR 2.89; 95% CI 2.63-3.16). Subgroup analysis found ORs of 3.13 (95% CI 1.94-5.07) for male breast cancer, 2.88 (95% CI 2.63-3.16) for female breast cancer, 2.87 (95% CI 1.85-4.47) for early-onset breast cancer, 2.92 (95% CI 2.65-3.22) for invasive breast cancer, and 3.21 (95% CI 2.41-4.29) for familial breast cancer. The sensitivity analysis suggested that results of this meta-analysis were generally robust. CHEK2*1100delC is associated with an increased risk of both female and male breast cancer.

  4. [Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing].

    PubMed

    Bai, Ru-Feng; Jiang, Li-Zhe; Zhang, Zhong; Shi, Mei-Sen

    2013-12-01

    To study the genetic diversities of 30 insertion-deletion (InDel) polymorphisms loci of Han population in Beijing, and to evaluate their forensic application, 210 unrelated healthy individuals of Han population in Beijing were investigated to determine the distributions of allele frequencies by using Investigator DIP system. The PCR products were detected with ABI 3130 XL Genetic Analyzer. Forensic parameters were calculated with relevant statistical analysis software. As a result, after the Bonferroni correction at a 95% significance level, there were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium between the loci. The power of discrimination (DP) varies between 0.2690 (HLD118) and 0.6330 (HLD45), and the combined discrimination power (TDP) for the 30 InDel loci is 0.999999999985. The combined power of exclusion was 0.98771049 in trio cases (CPE(trio)) and 0.94579456 in duo cases (CPE(duo)). The parentage testing of 32 cases revealed no mutations happened to 30 InDel loci. Multiplex detection of the 30 InDel loci revealed a highly polymorphic genetic distribution in Beijing Han population, which represents a complementary tool in human identification studies, especially in challenging DNA cases.

  5. Haptoglobin genotyping of Vietnamese: global distribution of HP del, complete deletion allele of the HP gene.

    PubMed

    Soejima, Mikiko; Agusa, Tetsuro; Iwata, Hisato; Fujihara, Junko; Kunito, Takashi; Takeshita, Haruo; Lan, Vi Thi Mai; Minh, Tu Binh; Takahashi, Shin; Trang, Pham Thi Kim; Viet, Pham Hung; Tanabe, Shinsuke; Koda, Yoshiro

    2015-01-01

    The haptoglobin (HP) gene deletion allele (HP(del)) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. The distribution of this allele has been explored by several groups including ours. Here, we studied the frequency of HP(del) in addition to the distribution of common HP genotypes in 293 Vietnamese. The HP(del) was encountered with the frequency of 0.020. The present result suggested that this deletion allele is restricted to East and Southeast Asians. Thus, this allele seems to be a potential ancestry informative marker for these populations. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  6. CDC25AQ110del: A Novel Cell Division Cycle 25A Isoform Aberrantly Expressed in Non-Small Cell Lung Cancer

    PubMed Central

    Younis, Rania H.; Cao, Wei; Lin, Ruxian; Xia, Ronghui; Liu, Zhenqiu; Edelman, Martin J.; Mei, Yuping; Mao, Li; Ren, Hening

    2012-01-01

    Objective Lung cancer remains number one cause of cancer related deaths worldwide. Cell cycle deregulation plays a major role in the pathogenesis of Non-Small Cell Lung Cancer (NSCLC). CDC25A represents a critical cell cycle regulator that enhances cell cycle progression. In this study we aimed to investigate the role of a novel CDC25A transcriptional variant, CDC25AQ110del, on the regulation of the CDC25A protein, and its impact on prognosis of NSCLC patients. Methodology/Principal Findings Here we report a novel CDC25A transcript variant with codon 110 (Glutamine) deletion, that we termed CDC25AQ110del in NSCLC cells. In 9 (75%) of the 12 NSCLC cell lines, CDC25AQ110del expression accounted for more than 20% of the CDC25A transcripts. Biological effects of CDC25AQ110del were investigated in H1299 and HEK-293F cells using UV radiation, flowcytometry, cyclohexamide treatment, and confocal microscopy. Compared to CDC25Awt, CDC25AQ110del protein had longer half-life; cells expressing CDC25AQ110del were more resistant to UV irradiation and showed more mitotic activity. Taqman-PCR was used to quantify CDC25AQ110del expression levels in 88 primary NSCLC tumor/normal tissue pairs. In patients with NSCLC, Kaplan Meier curves showed tumors expressing higher levels of CDC25AQ110del relative to the adjacent lung tissues to have significantly inferior overall survival (P = .0018). Significance Here we identified CDC25AQ110del as a novel transcriptional variant of CDC25A in NSCLC. The sequence-specific nature of the abnormality could be a prognostic indicator in NSCLC patients as well as a candidate target for future therapeutic strategies. PMID:23071577

  7. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

    PubMed Central

    Van Goor, Fredrick; Hadida, Sabine; Grootenhuis, Peter D. J.; Burton, Bill; Stack, Jeffrey H.; Straley, Kimberly S.; Decker, Caroline J.; Miller, Mark; McCartney, Jason; Olson, Eric R.; Wine, Jeffrey J.; Frizzell, Ray A.; Ashlock, Melissa; Negulescu, Paul A.

    2011-01-01

    Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that impair the function of CFTR, an epithelial chloride channel required for proper function of the lung, pancreas, and other organs. Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface. One strategy to treat these patients is to correct the processing of F508del-CFTR with small molecules. Here we describe the in vitro pharmacology of VX-809, a CFTR corrector that was advanced into clinical development for the treatment of CF. In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the endoplasmic reticulum and enhanced chloride secretion to approximately 14% of non-CF human bronchial epithelial cells (EC50, 81 ± 19 nM), a level associated with mild CF in patients with less disruptive CFTR mutations. F508del-CFTR corrected by VX-809 exhibited biochemical and functional characteristics similar to normal CFTR, including biochemical susceptibility to proteolysis, residence time in the plasma membrane, and single-channel open probability. VX-809 was more efficacious and selective for CFTR than previously reported CFTR correctors. VX-809 represents a class of CFTR corrector that specifically addresses the underlying processing defect in F508del-CFTR. PMID:21976485

  8. DelPhi Web Server: A comprehensive online suite for electrostatic calculations of biological macromolecules and their complexes

    PubMed Central

    Sarkar, Subhra; Witham, Shawn; Zhang, Jie; Zhenirovskyy, Maxim; Rocchia, Walter; Alexov, Emil

    2011-01-01

    Here we report a web server, the DelPhi web server, which utilizes DelPhi program to calculate electrostatic energies and the corresponding electrostatic potential and ionic distributions, and dielectric map. The server provides extra services to fix structural defects, as missing atoms in the structural file and allows for generation of missing hydrogen atoms. The hydrogen placement and the corresponding DelPhi calculations can be done with user selected force field parameters being either Charmm22, Amber98 or OPLS. Upon completion of the calculations, the user is given option to download fixed and protonated structural file, together with the parameter and Delphi output files for further analysis. Utilizing Jmol viewer, the user can see the corresponding structural file, to manipulate it and to change the presentation. In addition, if the potential map is requested to be calculated, the potential can be mapped onto the molecule surface. The DelPhi web server is available from http://compbio.clemson.edu/delphi_webserver. PMID:24683424

  9. Combined effects of VX-770 and VX-809 on several functional abnormalities of F508del-CFTR channels.

    PubMed

    Kopeikin, Z; Yuksek, Z; Yang, H-Y; Bompadre, S G

    2014-09-01

    The most common cystic fibrosis-associated mutation, the deletion of phenylalanine 508 (F508del), results in channels with poor membrane expression and impaired function. VX-770, a clinically approved drug for treatment of CF patients carrying the G551D mutation, and VX-809, a corrector shown in vitro to increase membrane expression of mutant channels, are currently undergoing clinical trials, but functional data at the molecular level is still lacking. The effect of VX-770 and VX-809 on the multiple functional defects of F508del-CFTR was assessed via excised inside-out patch-clamp experiments. VX-770 completely restores the low opening-rate of F508del-CFTR, with smaller open-time increase, in temperature-corrected and VX-809-treated channels. The shorter locked-open time of hydrolysis-deficient F508del-CFTR is also prolonged by VX-770. VX-809 does not improve channel function by itself as previously reported. The results from these studies can be interpreted as an equilibrium shift toward the open-channel conformation of F508del-CFTR channels. Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  10. [Bibliometric analysis of Revista Médica del IMSS in the Scopus database for the period between 2005-2013].

    PubMed

    García-Gómez, Francisco; Ramírez-Méndez, Fernando

    2015-01-01

    To analyze the number of articles of Revista Médica del Instituto Mexicano del Seguro Social (Rev Med Inst Mex Seguro Soc) in the Scopus database and describe principal quantitative bibliometric indicators of scientific publications during the period between 2005 to 2013. Scopus database was used limited to the period between 2005 to 2013. The analysis cover mainly title of articles with the title of Revista Médica del Instituto Mexicano del Seguro Social and its possible modifications. For the analysis, Scopus, Excel and Access were used. 864 articles were published during the period between 2005 to 2013 in the Scopus database. We identified authors with the highest number of contributions including articles with the highest citation rate and forms of documents cited. We also divided articles by subjects, types of documents and other bibliometric indicators which characterize the publications. The use of Scopus brings the possibility of analyze with an external tool the visibility of the scientific production published in the Revista Médica del IMSS. The use of this database also contributes to identify the state of science in México, as well as in the developing countries.

  11. Reconversion Militar del Ejercito en la Frontera Dominico-Haitiana (Military Restructuring of the Army on the Dominican-Haitian Border)

    DTIC Science & Technology

    2013-05-22

    Estado Mayor del Ejército de EE. UU. en cumplimiento parcial de los requisitos para la obtención del grado de MAESTRÍA EN CIENCIAS Y ARTES...MILITARES Estudios Generales Por MAYOR FELIPE CÉSPEDES TEJERA, EJÉRCITO NACIONAL DOMINICANO Licenciado en Ciencias Sociales, Universidad...ANSI Std. Z39.18 ii MAESTRÍA EN ARTES Y CIENCIAS MILITARES PÁGINA DE APROBACIÓN DE LA TESIS Nombre del Candidato: Mayor Felipe Céspedes Tejera

  12. Characterization of nasal potential difference in cftr knockout and F508del-CFTR mice.

    PubMed

    Saussereau, Emilie Lyne; Roussel, Delphine; Diallo, Siradiou; Debarbieux, Laurent; Edelman, Aleksander; Sermet-Gaudelus, Isabelle

    2013-01-01

    Treatments designed to correct cystic fibrosis transmembrane conductance regulator (CFTR) defects must first be evaluated in preclinical experiments in the mouse model of cystic fibrosis (CF). Mice nasal mucosa mimics the bioelectric defect seen in humans. The use of nasal potential difference (V(TE)) to assess ionic transport is a powerful test evaluating the restoration of CFTR function. Nasal V(TE) in CF mice must be well characterized for correct interpretation. We performed V(TE) measurements in large-scale studies of two mouse models of CF--B6;129 cftr knockout and FVB F508del-CFTR--and their respective wild-type (WT) littermates. We assessed the repeatability of the test for cftr knockout mice and defined cutoff points distinguishing between WT and F508del-CFTR mice. We determined the typical V(TE) values for CF and WT mice and demonstrated the existence of residual CFTR activity in F508del-CFTR mice. We characterized intra-animal variability in B6;129 mice and defined the cutoff points for F508del-CFTR chloride secretion rescue. Hyperpolarization of more than -2.15 mV after perfusion with a low-concentration Cl(-) solution was considered to indicate a normal response. These data will make it possible to interpret changes in nasal V(TE) in mouse models of CF, in future preclinical studies.

  13. Forensic efficiency and genetic variation of 30 InDels in Vietnamese and Nigerian populations.

    PubMed

    Du, Weian; Peng, Zhiyong; Feng, Chunlei; Zhu, Bofeng; Wang, Bangchao; Wang, Yue; Liu, Chao; Chen, Ling

    2017-10-24

    Insertion/deletion polymorphisms (InDels) are ubiquitous diallelic genetic markers that have drawn increasing attention from forensic researchers. Here, we investigated 30 InDel loci in Vietnamese and Nigerian populations and evaluated their usefulness in forensic genetics. The polymorphic information content of these populations ranged, respectively, from 0.164 to 0.375 and from 0.090 to 0.375 across loci. After Bonferroni correction, no significant deviation from Hardy-Weinberg equilibrium was found, except for HLD97 in the Nigerian population. The cumulative power of exclusion for all 30 loci in the Vietnamese and Nigerian populations was 0.9870 and 0.9676, respectively, indicating that this InDel set is not suitable for paternity testing in these populations, but could be included as a supplement. For the Vietnamese and the Nigerian populations, the mean observed heterozygosity was 0.5917 and 0.6268, and the combined discrimination power of the 30 loci was 0.9999999999767 and 0.9999999999603, respectively. These findings indicated that these InDels may be suitable for personal forensic identification in the studied populations. The results of D A distance, phylogenetic tree, principal component, and cluster analyses were consistent and indicated a clear pattern of regional distribution. Moreover, the Vietnamese population was shown to have close genetic relationships with the Guangdong Han and Shanghai Han populations.

  14. Forensic efficiency and genetic variation of 30 InDels in Vietnamese and Nigerian populations

    PubMed Central

    Du, Weian; Peng, Zhiyong; Feng, Chunlei; Zhu, Bofeng; Wang, Bangchao; Wang, Yue; Liu, Chao; Chen, Ling

    2017-01-01

    Insertion/deletion polymorphisms (InDels) are ubiquitous diallelic genetic markers that have drawn increasing attention from forensic researchers. Here, we investigated 30 InDel loci in Vietnamese and Nigerian populations and evaluated their usefulness in forensic genetics. The polymorphic information content of these populations ranged, respectively, from 0.164 to 0.375 and from 0.090 to 0.375 across loci. After Bonferroni correction, no significant deviation from Hardy-Weinberg equilibrium was found, except for HLD97 in the Nigerian population. The cumulative power of exclusion for all 30 loci in the Vietnamese and Nigerian populations was 0.9870 and 0.9676, respectively, indicating that this InDel set is not suitable for paternity testing in these populations, but could be included as a supplement. For the Vietnamese and the Nigerian populations, the mean observed heterozygosity was 0.5917 and 0.6268, and the combined discrimination power of the 30 loci was 0.9999999999767 and 0.9999999999603, respectively. These findings indicated that these InDels may be suitable for personal forensic identification in the studied populations. The results of DA distance, phylogenetic tree, principal component, and cluster analyses were consistent and indicated a clear pattern of regional distribution. Moreover, the Vietnamese population was shown to have close genetic relationships with the Guangdong Han and Shanghai Han populations. PMID:29179488

  15. Extracorporeal membrane oxygenation in children with heart disease and del22q11 syndrome: a review of the Extracorporeal Life Support Organization Registry.

    PubMed

    Prodhan, P; Gossett, J M; Rycus, P T; Gupta, P

    2015-11-01

    The study objective was to evaluate outcomes among children with del22q11 (DiGeorge) syndrome supported on ECMO for heart disease. The ELSO registry database was queried to include all children <18 years undergoing heart surgery for either common atrio-ventricular canal, tetralogy of Fallot, truncus arteriosus or transposition of the great vessels and interrupted aortic arch and requiring ECMO, from 1998-2011. The outcomes evaluated included mortality, ECMO duration and length of hospital stay in patients with del22q11 syndrome and with no del22q11 syndrome. Eighty-eight ECMO runs occurred in children with del22q11 syndrome while 2694 ECMO runs occurred in children without del22q11 syndrome. For patients with heart defects receiving ECMO, del22q11 syndrome did not confer a significant mortality risk or an increased risk of infectious complications before or while on ECMO support. Neither the duration of ECMO nor mechanical ventilation prior to ECMO deployment were prolonged in patients with del22q11 syndrome compared to the controls. © The Author(s) 2015.

  16. Developing market class specific InDel markers from next generation sequence data in Phaseolus vulgaris L.

    PubMed

    Moghaddam, Samira Mafi; Song, Qijian; Mamidi, Sujan; Schmutz, Jeremy; Lee, Rian; Cregan, Perry; Osorno, Juan M; McClean, Phillip E

    2014-01-01

    Next generation sequence data provides valuable information and tools for genetic and genomic research and offers new insights useful for marker development. This data is useful for the design of accurate and user-friendly molecular tools. Common bean (Phaseolus vulgaris L.) is a diverse crop in which separate domestication events happened in each gene pool followed by race and market class diversification that has resulted in different morphological characteristics in each commercial market class. This has led to essentially independent breeding programs within each market class which in turn has resulted in limited within market class sequence variation. Sequence data from selected genotypes of five bean market classes (pinto, black, navy, and light and dark red kidney) were used to develop InDel-based markers specific to each market class. Design of the InDel markers was conducted through a combination of assembly, alignment and primer design software using 1.6× to 5.1× coverage of Illumina GAII sequence data for each of the selected genotypes. The procedure we developed for primer design is fast, accurate, less error prone, and higher throughput than when they are designed manually. All InDel markers are easy to run and score with no need for PCR optimization. A total of 2687 InDel markers distributed across the genome were developed. To highlight their usefulness, they were employed to construct a phylogenetic tree and a genetic map, showing that InDel markers are reliable, simple, and accurate.

  17. Developing market class specific InDel markers from next generation sequence data in Phaseolus vulgaris L.

    PubMed Central

    Moghaddam, Samira Mafi; Song, Qijian; Mamidi, Sujan; Schmutz, Jeremy; Lee, Rian; Cregan, Perry; Osorno, Juan M.; McClean, Phillip E.

    2013-01-01

    Next generation sequence data provides valuable information and tools for genetic and genomic research and offers new insights useful for marker development. This data is useful for the design of accurate and user-friendly molecular tools. Common bean (Phaseolus vulgaris L.) is a diverse crop in which separate domestication events happened in each gene pool followed by race and market class diversification that has resulted in different morphological characteristics in each commercial market class. This has led to essentially independent breeding programs within each market class which in turn has resulted in limited within market class sequence variation. Sequence data from selected genotypes of five bean market classes (pinto, black, navy, and light and dark red kidney) were used to develop InDel-based markers specific to each market class. Design of the InDel markers was conducted through a combination of assembly, alignment and primer design software using 1.6× to 5.1× coverage of Illumina GAII sequence data for each of the selected genotypes. The procedure we developed for primer design is fast, accurate, less error prone, and higher throughput than when they are designed manually. All InDel markers are easy to run and score with no need for PCR optimization. A total of 2687 InDel markers distributed across the genome were developed. To highlight their usefulness, they were employed to construct a phylogenetic tree and a genetic map, showing that InDel markers are reliable, simple, and accurate. PMID:24860578

  18. 78 FR 30268 - Del Norte County Resource Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-22

    ... Schools and Community Self-Determination Act (Pub. L. 112-141) (the Act) and operates in compliance with... to review prior year project's progress. Should the Secure Rural Schools Act be reauthorized, the.... ADDRESSES: The meetings will be held at the Del Norte County Unified School District, Redwood Room, 301 West...

  19. Casimir force in the Gödel space-time and its possible induced cosmological inhomogeneity

    NASA Astrophysics Data System (ADS)

    Khodabakhshi, Sh.; Shojai, A.

    2017-07-01

    The Casimir force between two parallel plates in the Gödel universe is computed for a scalar field at finite temperature. It is observed that when the plates' separation is comparable with the scale given by the rotation of the space-time, the force becomes repulsive and then approaches zero. Since it has been shown previously that the universe may experience a Gödel phase for a small period of time, the induced inhomogeneities from the Casimir force are also studied.

  20. Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma.

    PubMed

    Smol, Thomas; Dufour, Annika; Tricot, Sabine; Wemeau, Mathieu; Stalnikiewicz, Laure; Bernardi, Franck; Terré, Christine; Ducourneau, Benoît; Bisiau, Hervé; Daudignon, Agnès

    2017-01-01

    Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in the literature. Two hundred thirty-three patients with MM at diagnosis were studied using FISH to target 4 unfavorable cytogenetic abnormalities: 17p13 deletion, t(4;14) translocation, 1p32 deletion and 1q21 gain. Technical thresholds were determined for each probe using isolated CD138-expressing PC from patients without MM. The FISH analysis identified abnormalities in 79.0% of patients. Del(17p13) was detected in 15.0% of cases, t(4;14) in 11.5%, 1q21 gain in 37.8% and del(1p32) in 8.7%. Adding 1p32/1q21 FISH probes has enabled us to identify adverse cytogenetic profiles in 39.0% of patients without del(17p13) or t(4;14). Clonal heterogeneity was observed in 51.1% of patients as well as an increase in the number of adverse abnormalities when related clones were greater than or equal to 2 (85.1% against 45.6%). FISH allowed detecting accumulation of adverse abnormalities and clonal heterogeneity in MM with a combination of 4 probes. The impacts of these two parameters need to be evaluated, and could be included in future cytogenetic classifications.

  1. El diseño final del espectrógrafo de banco (EBASIM) para CASLEO

    NASA Astrophysics Data System (ADS)

    Simmons, J.; Levato, H.

    Utilizando el código de óptica ACCOS V se ha finalizado el diseño del espectrógrafo de banco para CASLEO. En una comunicación anterior habíamos indicado que utilizaríamos un colimador de 150 mm de diámetro con un radio de curvatura de 1540 mm. Para el espejo cámara, que tiene un diámetro de 200 mm, el radio de curvatura es de 1200 mm, ambos radios con una tolerancia no mayor a los 3 mm. En la presente, se informa sobre los detalles finales del cálculo del espectrógrafo que incluye el cómputo para 5 longitudes de onda diferentes y alrededor de 100 rayos. En todos los casos el 75 % de energía está dentro de un diámetro de 13 micrones. El diseño ha sido probado entre 3500 Å hasta 9000 Å con resultados satisfactorios.

  2. [Effectiveness of azacitidine in chronic myelomonocytic leukemia harboring del(20q) - a case report].

    PubMed

    Manabe, Masahiro; Okita, Junya; Takakuwa, Teruhito; Harada, Naonori; Aoyama, Yasutaka; Kumura, Takeo; Ohta, Tadanobu; Furukawa, Yoshio; Mugitani, Atsuko

    2014-06-01

    A 7 1-year-old man was admitted to our hospital with leukocytosis and anemia. Chronic myelomonocytic leukemia (CMML)harboring del(20q)was diagnosed by peripheral blood examination and bone marrow aspiration. The patient was subsequently treated with azacitidine, which resulted in rapid disappearance of monocytosis and resolved his dependency on red cell transfusion. With regard to the chromosomal abnormality, although del(20q)is estimated to be encountered in approximately 0.7-1.0% of all CMML cases, its significance in prognosis has not been fully analyzed. Hence, more such cases need to be evaluated to elucidate the therapeutic outcome of CMML involving del(20q). In addition, the Wilms tumor-1(WT 1)level in the patient gradually decreased after the initiation of azacitidine therapy. This phenomenon of WT1 decrease synchronizing with the patient's clinical improvement might reflect therapeutic efficacy with regard to the clinical course, as had been observed in acute myeloid leukemia and myelodysplastic syndrome.

  3. DELIVERING TIMELY AIR QUALITY, TRAFFIC, AND WEATHER INFORMATION TO YOUR COMMUNITY/THE PASO DEL NORTE ENVIRONMENTAL MONITORING PROJECT

    EPA Science Inventory

    EPA has developed a technology transfer handbook for the EMPACT Paso del Norte Project. The EMPACT Paso del Norte Environmental Monitoring Project is a mobile vehicle emissions project that involves the international community of El Paso, TX; Sundland Park, NM; and Juarez, Mexico...

  4. Faculty Activity Analysis in the Universidad Tecnica Del Estado Campuses.

    ERIC Educational Resources Information Center

    Karadima, Oscar

    An analysis of academic activities of college faculty at the eight campuses of Chile's Universidad Tecnica del Estado was conducted. Activities were grouped into seven categories: direct teaching, indirect teaching, research, community services, faculty development, academic administration, and other activities. Following the narrative…

  5. Lack of effect of the alpha2C-adrenoceptor Del322-325 polymorphism on inhibition of cyclic AMP production in HEK293 cells.

    PubMed

    Montgomery, M D; Bylund, D B

    2010-02-01

    The alpha(2C)-adrenoceptor has multiple functions, including inhibiting release of noradrenaline from presynaptic nerve terminals. A human alpha(2C) polymorphism, Del322-325, a potential risk factor for heart failure, has been reported to exhibit reduced signalling in CHO cells. To further understand the role of the Del322-325 polymorphism on receptor signalling, we attempted to replicate and further study the reduced signalling in HEK293 cells. Human alpha(2C) wild-type (WT) and Del322-325 adrenoceptors were stably transfected into HEK293 cells. Radioligand binding was performed to determine affinities for both receptors. In intact cells, inhibition of forskolin-stimulated cyclic AMP production by WT and Del322-325 clones with a range of receptor densities (200-2320 fmol.mg(-1) protein) was measured following agonist treatment. Noradrenaline, brimonidine and clonidine exhibited similar binding affinities for WT and Del322-325. Brimonidine and clonidine also had similar efficacies and potencies for both receptors for the inhibition of cyclic AMP production at all receptor densities tested. A linear regression analysis comparing efficacy and potency with receptor expression levels showed no differences in slopes between WT and Del322-325. The alpha(2C) WT and Del322-325 adrenoceptors exhibited similar binding properties. Additionally, inhibition of cyclic AMP production by Del322-325 was similar to that of WT over a range of receptor densities. Therefore, in intact HEK293 cells, the alpha(2C)-Del322-325 polymorphism does not exhibit reduced signalling to adenylyl cyclase and may not represent a clinically important phenotype.

  6. [Trattamento farmacologico del disturbo da uso di alcol. Evidenze scientifiche].

    PubMed

    Attilia, Fabio; Perciballi, Roberta; Rotondo, Claudia; Capriglione, Ida; Iannuzzi, Silvia; Attilia, Maria Luisa; Vitali, Mario; Alessandrini, Giovanni; Scamporrino, Maria Concetta Marcella; Fiore, Marco; Ceccanti, Mauro

    2018-01-01

    RIASSUNTO. La terapia farmacologica nei pazienti con disturbo da uso di alcol riveste un ruolo centrale nel progetto terapeutico, altamente contestualizzato in un approccio multidisciplinare. Sebbene i trattamenti non farmacologici per la dipendenza da alcol risultino ben strutturati e in continua evoluzione, dal punto di vista medico le possibilità di intervento sono realmente ristrette, con poche molecole a disposizione approvate per il disturbo da uso di alcol: nello specifico, l'acamprostato, il naltrexone e, più recentemente, il nalmefene tra gli anticraving; il disulfiram tra gli avversivanti. Nuovi approcci sperimentali stanno cercando di ampliare tale gamma attraverso l'utilizzo di farmaci off-label. Evidenze scientifiche devono supportare l'indicazione terapeutica, quest'ultima deve dimostrarsi "cucita" sulle esigenze del paziente e sulle comorbilità presenti tenendo conto del profilo bio-psico-sociale individuale. Fondamentale risulta il follow-up per valutare la ritenzione in trattamento e il monitoraggio degli outcome alcologici.

  7. Pío del Río Hortega and the discovery of the oligodendrocytes

    PubMed Central

    Pérez-Cerdá, Fernando; Sánchez-Gómez, María Victoria; Matute, Carlos

    2015-01-01

    Pío del Río Hortega (1882–1945) discovered microglia and oligodendrocytes (OLGs), and after Ramón y Cajal, was the most prominent figure of the Spanish school of neurology. He began his scientific career with Nicolás Achúcarro from whom he learned the use of metallic impregnation techniques suitable to study non-neuronal cells. Later on, he joined Cajal’s laboratory. and Subsequently, he created his own group, where he continued to develop other innovative modifications of silver staining methods that revolutionized the study of glial cells a century ago. He was also interested in neuropathology and became a leading authority on Central Nervous System (CNS) tumors. In parallel to this clinical activity, del Río Hortega rendered the first systematic description of a major polymorphism present in a subtype of macroglial cells that he named as oligodendroglia and later OLGs. He established their ectodermal origin and suggested that they built the myelin sheath of CNS axons, just as Schwann cells did in the periphery. Notably, he also suggested the trophic role of OLGs for neuronal functionality, an idea that has been substantiated in the last few years. Del Río Hortega became internationally recognized and established an important neurohistological school with outstanding pupils from Spain and abroad, which nearly disappeared after his exile due to the Spanish civil war. Yet, the difficulty of metal impregnation methods and their variability in results, delayed for some decades the confirmation of his great insights into oligodendrocyte biology until the development of electron microscopy and immunohistochemistry. This review aims at summarizing the pioneer and essential contributions of del Río Hortega to the current knowledge of oligodendrocyte structure and function, and to provide a hint of the scientific personality of this extraordinary and insufficiently recognized man. PMID:26217196

  8. CHEK2*1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family-Based Genetic Association Study

    DTIC Science & Technology

    2007-10-01

    AD_________________ Award Number: DAMD17-03-1-0774 TITLE: CHEK2 *1100delC Variant and BRCA1/2...NUMBER CHEK2 *1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family- Based Genetic Association Study 5b. GRANT NUMBER DAMD17...association between the CHEK2 *1100delC gene variant and breast cancer among BRCA1/2-negative families. Vital to DNA replication and normal growth of breast

  9. The Cuernos del Paine mountains in Torres del Paine National Park in Chile provide a backdrop to a herd of guanacos during NASA's AirSAR 2004 campaign

    NASA Image and Video Library

    2004-03-11

    The Cuernos del Paine mountains in Torres del Paine National Park in Chile provide a backdrop to a herd of guanacos during NASA's AirSAR 2004 campaign. AirSAR 2004 is a three-week expedition in Central and South America by an international team of scientists that is using an all-weather imaging tool, called the Airborne Synthetic Aperture Radar (AirSAR), located onboard NASA's DC-8 airborne laboratory. Scientists from many parts of the world are combining ground research with NASA's AirSAR technology to improve and expand on the quality of research they are able to conduct. Founded in 1959, Torres del Paine National Park encompasses 450,000 acres in the Patagonia region of Chile. This region is being studied by NASA using a DC-8 equipped with an Airborne Synthetic Aperture Radar (AirSAR) developed by scientists from NASA’s Jet Propulsion Laboratory. This is a very sensitive region that is important to scientists because the temperature has been consistently rising causing a subsequent melting of the region’s glaciers. AirSAR will provide a baseline model and unprecedented mapping of the region. This data will make it possible to determine whether the warming trend is slowing, continuing or accelerating. AirSAR will also provide reliable information on ice shelf thickness to measure the contribution of the glaciers to sea level.

  10. Generalized Gödel universes in higher dimensions and pure Lovelock gravity

    NASA Astrophysics Data System (ADS)

    Dadhich, Naresh; Molina, Alfred; Pons, Josep M.

    2017-10-01

    The Gödel universe is a homogeneous rotating dust with negative Λ which is a direct product of a three-dimensional pure rotation metric with a line. We would generalize it to higher dimensions for Einstein and pure Lovelock gravity with only one N th-order term. For higher-dimensional generalization, we have to include more rotations in the metric, and hence we shall begin with the corresponding pure rotation odd (d =2 n +1 )-dimensional metric involving n rotations, which eventually can be extended by a direct product with a line or a space of constant curvature for yielding a higher-dimensional Gödel universe. The considerations of n rotations and also of constant curvature spaces is a new line of generalization and is being considered for the first time.

  11. The effect of the common c.2299delG mutation in USH2A on RNA splicing.

    PubMed

    Lenassi, Eva; Saihan, Zubin; Bitner-Glindzicz, Maria; Webster, Andrew R

    2014-05-01

    Recessive variants in the USH2A gene are an important cause of both Usher syndrome and nonsyndromic retinitis pigmentosa. A single base-pair deletion in exon 13 (c.2299delG, p.Glu767Serfs*21) is considered the most frequent mutation of USH2A. It is predicted to generate a premature termination codon and is presumed to lead to nonsense mediated decay. However the effect of this variant on RNA has not been formally investigated. It is not uncommon for exonic sequence alterations to cause aberrant splicing and the aim of the present report is to evaluate the effect of c.2299delG on USH2A transcripts. Nasal cells represent the simplest available tissue to study splicing defects in USH2A. Nasal brushing, RNA extraction from nasal epithelial cells and reverse transcription PCR were performed in five Usher syndrome patients who were homozygous for c.2299delG, two unaffected c.2299delG heterozygotes and seven control individuals. Primers to amplify between exons 12 and 15 and exons 10 and 14 were utilised. Significant variability was observed between different RT-PCR experiments. Importantly, in controls, PCR product of the expected size were amplified on all occasions (13/13 experiments); for patients this was true in only 4/14 experiments (Fisher exact test p = 0.0002). Bioinformatics tools predict the c.2299delG change to disrupt an exonic splicing enhancer and to create an exonic splicing silencer within exon 13. Here, we report an effect of the common c.2299delG mutation on splicing of exons 12 and 13 of USH2A. Future studies are expected to provide important insights into the contribution of this effect on the phenotype. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Cosmogenic Radionuclides in the Campo Del Cielo Iron Meteorite

    NASA Technical Reports Server (NTRS)

    Liberman, R. G.; FernandezNiello, J. O.; Reedy, R. C.; Fifield, L. K.; diTada, M. L.

    2001-01-01

    Cosmogenic Be-10, Al-26, Cl-36, Ca-41, and Ni-59 were measured in the Campo del Cielo iron meteorite. Our results led us to conclude that the pre-atmospheric radius might have been approximately 2 m. Comparisons with other big bodies are also presented. Additional information is contained in the original extended abstract.

  13. Determinacion de periodos fundamentales del suelo mediante vibraciones ambientales en el municipio de Humacao, Puerto Rico

    NASA Astrophysics Data System (ADS)

    Cintron Aponte, Rommel

    La tecnica de Nakamura ha sido utilizada a nivel mundial para determinar periodos fundamentales del suelo. La tecnica consiste en calcular y graficar cocientes espectrales H/V de vibraciones ambientales registradas sobre el suelo. Mediciones de vibraciones ambientales fueron tomadas en 151 lugares dentro del municipio de Humacao, localizado al este de Puerto Rico. Los datos se procesaron utilizando espectros de Fourier y espectros de potencia. La tecnica fue validada al compararla con los resultados de cocientes espectrales H/V de registros de sismos debiles y tambien con una modelacion numerica realizada con datos de un ensayo "downhole". Las graficas de los cocientes espectrales H/V fueron divididas en casos y grupos, los cuales dependen de la facilidad para identificar el periodo fundamental pico y amplitudes en frecuencias menores de 1 Hz, respectivamente. Los resultados obtenidos con ambos espectros fueron comparados y se concluye que los mismos se complementan para proveer resultados mas confiables. Se crearon mapas de periodos fundamentales, factores de amplitud, isoperiodos y clasificacion sismica de sitio. Los mapas de isoperiodos fueron realizados en las zonas mas pobladas sobre depositos de suelo. El mapa de periodos fundamentales del suelo mostro buena correlacion con la geologia local. El mapa de clasificacion sismica derivado de periodos de sitio fue comparado con el mapa de clasificacion sismica derivado de barrenos geotecnicos. El mapa de clasificacion obtenido de periodos puede sobreestimar un poco algunas clasificaciones del suelo. Sin embargo, este mapa puede proveer un estimado aproximado de la velocidad de onda de corte promedio del suelo hasta una profundidad de 100 pies (30 metros).

  14. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).

    PubMed

    Beneyto, M M; Cuevas, J M; Millán, J M; Espinós, C; Mateu, E; González-Cabo, P; Baiget, M; Doménech, M; Bernal, S; Ayuso, C; García-Sandoval, B; Trujillo, M J; Borrego, S; Antiñolo, G; Carballo, M; Nájera, C

    2000-06-01

    The Usher syndrome (USH) is a group of autosomal recessive diseases characterized by congenital sensorineural hearing loss and retinitis pigmentosa. Three clinically distinct forms of Usher syndrome have so far been recognized and can be distinguished from one another by assessing auditory and vestibular function. Usher syndrome type II (USH2) patients have congenital moderate-to-severe nonprogressive hearing loss, retinitis pigmentosa, and normal vestibular function. Genetic linkage studies have revealed genetic heterogeneity among the three types of USH, with the majority of USH2 families showing linkage to the USH2A locus in 1q41. The USH2A gene (MIM 276901) has been identified: three mutations, 2314delG, 2913delG, and 4353-54delC, were initially reported in USH2A patients, the most frequent of which is the 2314delG mutation. It has been reported that this mutation can give rise to typical and atypical USH2 phenotypes. USH2 cases represent 62% of all USH cases in the Spanish population, and 95% of these cases have provided evidence of linkage to the USH2A locus. In the present study, the three reported mutations were analyzed in 59 Spanish families with a diagnosis of USH type II. The 2314delG was the only mutation identified in our population: it was detected in 25% of families and 16% of USH2 chromosomes analyzed. This study attempts to estimate the prevalence of this common mutation in a homogeneous Spanish population.

  15. An experiment of formation of charmoni states in annihilation P-Pbarra. Un esperimento di formazione di stati del charmonio in annichilazione P-Pbarra (in Italian)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Pallavicini, Marco

    1995-01-01

    Oggetto di questa tesi e la misura di alcune caratteristiche fisiche (massa, larghezza, e larghezza parziale in p -more » $$\\bar{p}$$) degli stati 3P 1 e 3P 2 del charmonio, -ovvero del sistema legato di un quark "charm" e del suo antiquark-, nell'amito dell'esperimento E-760, installato nell'accumulatore di antiprotoni del Fermilab.« less

  16. Segundo Catálogo Estelar del Hemisferio Sur con Astrolabio Fotoeléctrico PAII

    NASA Astrophysics Data System (ADS)

    Manrique, W. T.; Podestá, R. C.; Alonso, E.; Actis, E. V.; Pacheco, A. M.; Bustos, G.; Lizhi, L.; Zezhi, W.; Fanmiao, Z.; Hongqi, W.; Perdomo, R.

    Recordamos que entre el Observatorio Astronómico ``Félix Aguilar'', el Observatorio Astronómico de Beijing y el Observatorio Astronómico de La Plata, se ha convenido en desarrollar un Proyecto de Investigación conjunto, para la observación sistemática de estrellas en el Hemisferio Sur, con el objeto de la elaboración de un Catálogo Estelar Global utilizando un Astrolabio Fotoeléctrico PAII del Observatorio de Beijing, que ha sido usado con éxito en la República de China. En este trabajo se presenta el Segundo Catálogo Estelar del Hemisferio Sur, derivado de las observaciones realizadas con el PAII instalado en el OAFA, durante el períiodo Febrero de 1992 a Marzo de 1997. En este lapso se han observado mas de 400000 pasajes estelares, obteniéndose las correcciones Δ α y Δ δ de 5241 estrellas del FK4, FK5, FK5 Ext., SRS, CAMC y GC. Las precisiones medias son del orden de ± 3,2 ms en ascensión recta y ±0."057 en declinación. Rango de magnitudes : 2,0 a 11,5 Rango de declinaciones : -3o a -60o Epoca Media : 1994.9 Se analizan los residuos en función de la magnitud y tipo espectral, correcciones de grupo y frecuencia de distribución Δ α y Δ δ.

  17. Interdisciplinary Unit: La Isla del Encanto (The Enchanted Island).

    ERIC Educational Resources Information Center

    Ford-Guerrera, Rebecca

    This document presents a series of 14 lesson plans in an interdisciplinary Spanish unit on "La isla del encanto/The Enchanted Island." The materials were prepared for students in grades 5 or 6 who have had basic Spanish instruction in previous grades. The students should also be familiar with basic concepts in English such as math…

  18. Association of methylenetetrahydrofolate reductase (MTHFR 677C>T) and thymidylate synthase (TSER and TS 1494del6) polymorphisms with premature ovarian failure in Korean women.

    PubMed

    Rah, HyungChul; Jeon, Young Joo; Choi, Youngsok; Shim, Sung Han; Yoon, Tae Ki; Choi, Dong Hee; Cha, Sun Hee; Kim, Nam Keun

    2012-11-01

    The aim of our study was to investigate whether methylenetetrahydrofolate reductase (MTHFR) gene variant (MTHFR 677C>T) and thymidylate synthase (TS) gene variants (TS enhancer region [TSER] and TS 1494del6) confer a risk for premature ovarian failure (POF). We genotyped 136 POF patients and 236 controls among Korean women for the three single nucleotide polymorphism sites using polymerase chain reaction restriction fragment length polymorphism analysis. Differences in the MTHFR 677C>T, TSER, and TS 1494del6 genotype frequencies between POF patients and controls were compared, and odds ratios (ORs) and 95% CIs were determined as a measure of the strength of the association between genotypes and POF. The MTHFR 677CT and CT + TT variant genotypes were more frequent in POF patients than in controls (OR, 2.249; 95% CI, 1.317-3.843; and OR, 2.132; 95% CI, 1.268-3.585, respectively). The combined genotype frequencies of MTHFR 677CT + TT/TSER 3R3R and 677CT + TT/TS 1494del6 del6/del6 were higher in patients than in controls (OR, 2.300; 95% CI, 1.219-4.337; and OR, 3.314; 95% CI, 1.623-6.767, respectively). The T-3R-del6 and T-2R-del6 (MTHFR 677C>T/TSER/TS 1494del6) haplotypes were more frequent in patients (OR, 1.450; 95% CI, 1.050-2.002; and OR, 2.911; 95% CI, 1.191-7.117, respectively), whereas the C-2R-del6 haplotype was less frequent in patients (OR, 0.372; 95% CI, 0.152-0.912). The T-del6 (MTHFR 677/TS 1494del6) haplotype frequency was higher among patients (OR, 1.653; 95% CI, 1.206-2.266), whereas the C-del6 haplotype frequency was lower among patients (OR, 0.700; 95% CI, 0.516-0.950). We did not find an association between TSER or TS 1494del6 polymorphisms and POF. Our data suggest that the MTHFR 677T allele may increase the risk for POF, which could lead to the development of novel genetic markers for predicting the risk of POF in patients.

  19. Prevalencia y tamizaje del Trastorno por Déficit de Atención con Hiperactividad en Costa Rica

    PubMed Central

    Weiss, Nicholas T.; Schuler, Jovita; Monge, Silvia; McGough, James J.; Chavira, Denise; Bagnarello, Monica; Herrera, Luis Diego; Mathews, Carol A.

    2015-01-01

    Resumen La investigación tuvo como propósito estimar la prevalencia del Trastorno por Déficit de Atención con Hiperactividad (TDAH) en Costa Rica y determinar si la versión en español del cuestionario Swanson Nolan and Pelham Scale IV (SNAP-IV) es un instrumento de tamizaje útil en una población de niños y niñas escolares costarricenses. El instrumento fue entregado a padres y maestros de 425 niños entre 5 y 13 años de edad (promedio = 8.8). Todos fueron evaluados con el instrumento Swanson, Kotkin, Agler, M-Flynn and Pelham Scale (SKAMP). Su diagnóstico fue confirmado con una entrevista clínica. La sensibilidad y la especificidad del SNAP-IV fueron evaluadas como predictores de criterios de diagnóstico según el DSM-IV. La prevalencia puntual en la muestra del TDAH fue del 5%. El tamizaje más preciso lo hizo el SNAP-IV completado por el maestro en un corte de 20%, con una sensibilidad de 96% y una especificidad de un 82%. La sensibilidad de los instrumentos completados por los padres fue más baja que aquella de los maestros. El SNAP-IV completado por las maestras con un corte aislando el 20% de los mayores puntajes categorizó correctamente a un 87% de los sujetos. PMID:22432094

  20. Systematically frameshifting by deletion of every 4th or 4th and 5th nucleotides during mitochondrial transcription: RNA self-hybridization regulates delRNA expression.

    PubMed

    Seligmann, Hervé

    2016-01-01

    In mitochondria, secondary structures punctuate post-transcriptional RNA processing. Recently described transcripts match the human mitogenome after systematic deletions of every 4th, respectively every 4th and 5th nucleotides, called delRNAs. Here I explore predicted stem-loop hairpin formation by delRNAs, and their associations with delRNA transcription and detected peptides matching their translation. Despite missing 25, respectively 40% of the nucleotides in the original sequence, del-transformed sequences form significantly more secondary structures than corresponding randomly shuffled sequences, indicating biological function, independently of, and in combination with, previously detected delRNA and thereof translated peptides. Self-hybridization decreases delRNA abundances, indicating downregulation. Systematic deletions of the human mitogenome reveal new, unsuspected coding and structural informations. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  1. Null geodesics and wave front singularities in the Gödel space-time

    NASA Astrophysics Data System (ADS)

    Kling, Thomas P.; Roebuck, Kevin; Grotzke, Eric

    2018-01-01

    We explore wave fronts of null geodesics in the Gödel metric emitted from point sources both at, and away from, the origin. For constant time wave fronts emitted by sources away from the origin, we find cusp ridges as well as blue sky metamorphoses where spatially disconnected portions of the wave front appear, connect to the main wave front, and then later break free and vanish. These blue sky metamorphoses in the constant time wave fronts highlight the non-causal features of the Gödel metric. We introduce a concept of physical distance along the null geodesics, and show that for wave fronts of constant physical distance, the reorganization of the points making up the wave front leads to the removal of cusp ridges.

  2. Functional characterization of a basic helix-loop-helix (bHLH) transcription factor GhDEL65 from cotton (Gossypium hirsutum).

    PubMed

    Shangguan, Xiao-Xia; Yang, Chang-Qing; Zhang, Xiu-Fang; Wang, Ling-Jian

    2016-10-01

    Cotton fiber is proposed to share some similarity with the Arabidopsis thaliana leaf trichome, which is regulated by the MYB-bHLH-WD40 transcription complex. Although several MYB transcription factors and WD40 family proteins in cotton have been characterized, little is known about the role of bHLH family proteins in cotton. Here, we report that GhDEL65, a bHLH protein from cotton (Gossypium hirsutum), is a functional homologue of Arabidopsis GLABRA3 (GL3) and ENHANCER OF GLABRA3 (EGL3) in regulating trichome development. Transcripts of GhDEL65 were detected in 0 ∼ 1 days post-anthesis (DPA) ovules and abundant in 3-DPA fibers, implying that GhDEL65 may act in early fiber development. Ectopic expression of GhDEL65 in Arabidopsis gl3 egl3 double mutant partly rescued the trichome development, and constitutive expression of GhDEL65 in wild-type plants led to increased trichome density on rosette leaves and stems, mainly by activating the transcription of two key positive regulators of trichome development, GLABRA1 (GL1) and GLABRA2 (GL2), and suppressed the expression of a R3 single-repeat MYB factor TRIPTYCHON (TRY). GhDEL65 could interact with cotton R2R3 MYB transcription factors GhMYB2 and GhMYB3, as well as the WD40 protein GhTTG3, suggesting that the MYB-bHLH-WD40 protein complex also exists in cotton fiber cell, though its function in cotton fiber development awaits further investigation. © 2016 Scandinavian Plant Physiology Society.

  3. CONTAMINACIÓN AMBIENTAL, VARIABILIDAD CLIMÁTICA Y CAMBIO CLIMÁTICO: UNA REVISIÓN DEL IMPACTO EN LA SALUD DE LA POBLACIÓN PERUANA

    PubMed Central

    Gonzales, Gustavo F.; Zevallos, Alisson; Gonzales-Castañeda, Cynthia; Nuñez, Denisse; Gastañaga, Carmen; Cabezas, César; Naeher, Luke; Levy, Karen; Steenland, Kyle

    2015-01-01

    RESUMEN El presente artículo es una revisión sobre la contaminación del agua, el aire y el efecto del cambio climático en la salud de la población peruana. Uno de los principales contaminantes del aire es el material particulado menor de 2,5 μ (PM 2,5), en la ciudad de Lima, anualmente 2300 muertes prematuras son atribuibles a este contaminante. Otro problema es la contaminación del aire domiciliario por el uso de cocinas con combustible de biomasa, donde la exposición excesiva a PM 2,5 dentro de las casas es responsable de aproximadamente 3000 muertes prematuras anuales entre adultos, con otro número desconocido de muertes entre niños debido a infecciones respiratorias. La contaminación del agua tiene como principales causas los desagües vertidos directamente a los ríos, minerales (arsénico) de varias fuentes, y fallas de las plantas de tratamiento. En el Perú, el cambio climático puede impactar en la frecuencia y severidad del fenómeno de El Niño oscilación del sur (ENSO) que se ha asociado con un incremento en los casos de enfermedades como cólera, malaria y dengue. El cambio climático incrementa la temperatura y puede extender las áreas afectadas por enfermedades transmitidas por vectores, además de tener efecto en la disponibilidad del agua y en la contaminación del aire. En conclusión, el Perú, pasa por una transición de factores de riesgo ambientales, donde coexisten riesgos tradicionales y modernos, y persisten los problemas infecciosos y crónicos, algunos de los cuales se asocian con problemas de contaminación de agua y de aire. PMID:25418656

  4. Impacto del Seguro Popular en el gasto catastrófico y de bolsillo en el México rural y urbano, 2005–2008

    PubMed Central

    Sosa-Rubí, Sandra G; Salinas-Rodríguez, Aarón; Galárraga, Omar

    2016-01-01

    Objetivo Estimar el efecto del Seguro Popular (SP) sobre la incidencia del gasto catastrófico en salud (GCS) y sobre el gasto de bolsillo en salud (GBS) en el mediano plazo. Material y métodos Con base en la Encuesta de Evaluación del Seguro Popular (2005–2008), se analizaron los resultados del efecto del SP en la cohorte rural para dos años de seguimiento (2006 y 2008) y en la cohorte urbana para un año (2008). Resultados A nivel conglomerado no se detectaron efectos del SP. A nivel hogar se encontró que el SP tiene un efecto protector en el GCS y en el GBS en consulta externa y hospitalización en zonas rurales; y efectos significativos en la reducción de GBS en consulta externa en zonas urbanas. Conclusiones El SP se muestra como un programa efectivo para proteger a los hogares contra gastos de bolsillo por motivos de salud en el mediano plazo. PMID:22282205

  5. Wave maps from Gödel's universe

    NASA Astrophysics Data System (ADS)

    Barletta, Elisabetta; Dragomir, Sorin; Magliaro, Marco

    2014-10-01

    Using a result by Koch (1988 Trans. Am. Math. Soc. 307 827-41) we realize Gödel's universe G_{α }^{4}=({{{R}}^{4}},{{g}_{α}}) as the total space of a principal {R}-bundle over a strictly pseudo-convex CR manifold M3 and exploit the analogy between {{g}_{Yalpha;}} and Fefferman's metric {{F}_{θ}} (Fefferman 1976 Ann. Math. 103 395-416 104 393-4) to show that for any {R}-invariant wave map Φ of G_{α}^{4} into a Riemannian manifold N, the corresponding base map φ :{{M}^{3}}\\to N is subelliptic harmonic, with respect to a canonical choice of contact form θ on M3. We show that the subelliptic Jacobi operator J_{b}^{φ} of ϕ has a discrete Dirichlet spectrum on any bounded domain D\\subset {{M}^{3}} supporting the Poincaré inequality on \\mathop{W}\\limits^{\\circ }{}_{H}^{1,2}(D,{{φ}^{-1}}TN) and Kondrakov compactness, i.e. compactness of the embedding \\mathop{W}\\limits^{\\circ }{}_{H}^{1,2}(D,{{φ }^{-1}}TN)\\hookrightarrow {{L}^{2}}(D,{{φ}^{-1}}TN). We exhibit an explicit solution π :G_{α}^{4}\\to {{M}^{3}} to the wave map system on G_{α}^{4}, of index in{{d}^{Ω}}(π)\\geqslant 1 for any bounded domain Ω \\subset G_{α}^{4}. Mounoud's distance (Mounoud 2001 Differ. Geom. Appl. 15 47-57) d_{{{G}_{0}}, Ω }^{∞}({{g}_{α }}, {{F}_{θ}}) is bounded below by a constant depending only on the rotation frequency of Gödel's universe, thus giving a measure of the bias of {{g}_{α}} from being Fefferman like in the region Ω \\subset {{{R}}^{4}}.

  6. Biotic association and palaeoenvironmental reconstruction of the "Loma del Pterodaustro" fossil site (Early Cretaceous, Argentina)

    USGS Publications Warehouse

    Chiappe, L.; Rivarola, D.; Cione, A.; Fregenal-Martinez, M.; Sozzi, H.; Buatois, L.; Gallego, O.; Laza, J.; Romero, E.; Lopez-Arbarello, A.; Buscalioni, A.; Marsicano, C.; Adamonis, S.; Ortega, F.; McGehee, S.; Di, Iorio O.

    1998-01-01

    A sedimentological analysis of the basal section of the Early Cretaceous, lacustrine Lagarcito Formation at "Loma del Pterodaustro" (San Luis, Argentina) and a summary of its biological components are presented. Three sedimentological facies can be recognized in the basal sequence of the Lagarcito Formation. Fossil remains are particularly abundant in laminated claystones of a facies interpreted as deposits formed in offshore areas of the lake. The preservation of delicate structures allows recognition of these deposits as a Konservat Lagersta??tte. Up to now, rocks at "Loma del Pterodaustro" have yielded plants, conchostracans, semionotid and pleuropholid fishes, pterodactyloid pterosaurs, and a variety of invertebrate traces. The chronology of the Lagarcito Formation is discussed and it is concluded that this unit is of Albian age. The palaeoenvironment of deposition of the basal sequence of the Lagarcito Formation at "Loma del Pterodaustro" is interpreted as a perennial, shallow lake developed within an alluvial plain, under semiarid climatic conditions.

  7. Integrated global background monitoring network. Preliminary results from Torres del Paine and Olympic National Parks

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Wiersma, G.B.; Kohler, A.; Boelcke, C.

    1985-10-01

    During 1984, a pilot project was initiated for monitoring pollution at Torres del Paine National Park in southern Chile and Olympic National Park in the United States. These are two of three initial sites that are to be established as part of an integrated global backgound monitoring network. Eventually, the plan is to establish a world-wide system of such sites. We collected and analyzed samples of the soil, water, air, and two species of plants (moss and lichen). We also collected and analyzed samples of the forest litter. We compared the samples of soil and vegetation against reference samples. Wemore » also compared samples of soil, vegetation, and of organic material from Torres del Paine against similar samples from Olympic and Sequoia-Kings Canyon National Parks in the United States. Although the data is preliminary, it is in agreement with out initial hypothesis that Torres del Paine and Olympic National Parks are not a polluted sites.« less

  8. Development and validation of an automated delirium risk assessment system (Auto-DelRAS) implemented in the electronic health record system.

    PubMed

    Moon, Kyoung-Ja; Jin, Yinji; Jin, Taixian; Lee, Sun-Mi

    2018-01-01

    A key component of the delirium management is prevention and early detection. To develop an automated delirium risk assessment system (Auto-DelRAS) that automatically alerts health care providers of an intensive care unit (ICU) patient's delirium risk based only on data collected in an electronic health record (EHR) system, and to evaluate the clinical validity of this system. Cohort and system development designs were used. Medical and surgical ICUs in two university hospitals in Seoul, Korea. A total of 3284 patients for the development of Auto-DelRAS, 325 for external validation, 694 for validation after clinical applications. The 4211 data items were extracted from the EHR system and delirium was measured using CAM-ICU (Confusion Assessment Method for Intensive Care Unit). The potential predictors were selected and a logistic regression model was established to create a delirium risk scoring algorithm to construct the Auto-DelRAS. The Auto-DelRAS was evaluated at three months and one year after its application to clinical practice to establish the predictive validity of the system. Eleven predictors were finally included in the logistic regression model. The results of the Auto-DelRAS risk assessment were shown as high/moderate/low risk on a Kardex screen. The predictive validity, analyzed after the clinical application of Auto-DelRAS after one year, showed a sensitivity of 0.88, specificity of 0.72, positive predictive value of 0.53, negative predictive value of 0.94, and a Youden index of 0.59. A relatively high level of predictive validity was maintained with the Auto-DelRAS system, even one year after it was applied to clinical practice. Copyright © 2017. Published by Elsevier Ltd.

  9. La utilizacion de los mapas conceptuales en la ensenanza de biologia y su efecto sobre el dominio del proceso de fotosintesis en los estudiantes universitarios

    NASA Astrophysics Data System (ADS)

    Gonzalez Rivera, Maria M.

    Se investigo el efecto de los mapas conceptuales sobre el dominio del proceso de fotosintesis en estudiantes universitarios. La investigacion utilizo dos estrategias: mapas conceptuales individuales y mapas conceptuales colaborativos, con el fin de investigar si existen diferencias significativas en el dominio del proceso de fotosintesis. El analisis de los datos incluyo aspectos cualitativos y cuantitativos. Se desprende del estudio que el 80% de los estudiantes describen la utilizacion de los mapas conceptuales como una experiencia beneficiosa. El 70% de los estudiantes expreso que los mapas conceptuales son utiles en el aprendizaje del proceso de fotosintesis y el 61% indico que facilitan la comprension de los conceptos. Los hallazgos mas importantes del analisis cuantitativo indican que los estudiantes que utilizaron los mapas conceptuales mejoraron significativamente su desempeno en la posprueba global. Se utilizo la prueba Mann-Whitney para investigar si existian diferencias significativas en la posprueba y preprueba global, el valor de W = 1945.0, para un valor p de 0.00, lo cual establece diferencias significativas. Para determinar si existian diferencias significativas entre la posprueba y preprueba del grupo individual, se realizo la prueba nuevamente. El valor de W correspondio a 490.5, que es significativo, con un valor p de 0.00. Se concluye que existen diferencias significativas entre la ejecucion de la posprueba y preprueba del grupo individual. Los datos proveen suficiente evidencia para sostener que los estudiantes que utilizaron la estrategia de mapas conceptuales individuales mejoraron el dominio del proceso de fotosintesis significativamente. Se realizo nuevamente la prueba para los resultados de posprueba y preprueba del grupo colaborativo. El valor de W correspondio a 446 con un valor p de 0.00. Se concluyo que existen diferencias significativas entre la ejecucion de la posprueba y preprueba del grupo colaborativo. Finalmente, se efectuo una

  10. Violación del Principio de Equivalencia en Teorías con Dilatón de Cuerdas

    NASA Astrophysics Data System (ADS)

    Landau, S. J.; Sisterna, P. D.; Vucetich, H.

    Se estudian las violaciones al Principio de Equivalencia en Teorías con Dilatón de Cuerdas. En estos modelos, algunas de las constantes fundamentales dependen del espacio y del tiempo. Se muestra que los experimentos de caída libre no tienen aún precisión como para poner límites a los parámetros de la teoría.

  11. History and use of del Nido cardioplegia solution at Boston Children's Hospital.

    PubMed

    Matte, Gregory S; del Nido, Pedro J

    2012-09-01

    Cardioplegia is an integral and essential method of myocardial protection for patients of all ages requiring cardiac surgery in which the heart must be stopped. Numerous cardioplegia solutions and delivery methods have been developed. The del Nido cardioplegia solution has been in use for 18 years at Boston Children's Hospital. This is a unique four parts crystalloid to one part whole blood formulation that is generally used in a single-dose fashion. Although the formulation was originally developed for use in pediatric and infant patients, its use for adult cardiac surgery has been expanding. National and international inquiries to our institution regarding this cardioplegia have been increasing over the last 2 years. We present the developmental history, supporting theory, and current protocol for use of what is now referred to as del Nido cardioplegia.

  12. F508del-CFTR rescue: a matter of cell stress response.

    PubMed

    Nieddu, Erika; Pollarolo, Benedetta; Merello, Luisa; Schenone, Silvia; Mazzei, Mauro

    2013-01-01

    Cystic fibrosis (CF) is a common inherited fatal disease affecting 70,000 people worldwide, with a median predicted age of survival of approximately 38 years. The deletion of Phenylalanine in position 508 of the Cystic Fibrosis Transmembrane conductance Regulator (F508del-CFTR) is the most common mutation in CF patients: the deleted protein, not properly folded, is degraded. To date no commercial drugs are available. Low temperature, some osmolytes and conditions able to induce heat shock protein 70 (Hsp70) expression and heat shock cognate 70 (Hsc70) inhibition result in F508del-CFTR rescue, hence restoring its physiological function: this review sheds light on the correlation between these several evidences. Interestingly, all these approaches have a role in the cell stress response (CSR), a set of cell reactions to stress. In addition, unpredictably, F508del-CFTR rescue has to be considered in the frame of CSR: entities that induce - or are induced during - the CSR are, in general, also able to correct trafficking defect of CFTR. Specifically, the low temperature induces, by definition, a CSR; osmolytes, such as glycerol and trimethylamine N-oxide (TMAO), are products of the CSR; pharmacological correctors, such as Matrine and 4-phenylbutirric acid (4PBA), down-regulate the constitutive Hsc70 in favor of an up-regulation of the inducible chaperone Hsp70, another component of the CSR. The identification of a common mechanism of action for different types of correctors could drive the discovery of new active molecules in CF, overcoming methods clinically inapplicable, such as the low temperature.

  13. A review on Balanites aegyptiaca Del (desert date): phytochemical constituents, traditional uses, and pharmacological activity

    PubMed Central

    Chothani, Daya L.; Vaghasiya, H. U.

    2011-01-01

    Balanites aegyptiaca Del. (Zygophyllaceae), known as ‘desert date,’ is spiny shrub or tree up to l0 m tall, widely distributed in dry land areas of Africa and South Asia. It is traditionally used in treatment of various ailments i.e. jaundice, intestinal worm infection, wounds, malaria, syphilis, epilepsy, dysentery, constipation, diarrhea, hemorrhoid, stomach aches, asthma, and fever. It contains protein, lipid, carbohydrate, alkaloid, saponin, flavonoid, and organic acid. Present review summarizes the traditional claims, phytochemistry, and pharmacology of B. aegyptiaca Del reported in scientific literature. PMID:22096319

  14. Moléculas orgánicas obtenidas en simulaciones experimentales del medio interestelar.

    NASA Astrophysics Data System (ADS)

    Muñoz-Caro, Guillermo Manuel

    Las nubes moleculares son regiones de formación de estrellas, con temperaturas cinéticas entre 10-50 K y densidades de 103-106 átomos cm-3. Su materia está formada por gas y polvo interestelar. Estas partículas de polvo están cubiertas por una fina capa de hielo, de unos 0.01 μm, que contiene H2O y a menudo CO, CO2, CH3OH y NH3. El hielo es presumiblemente irradiado por fotones ultravioleta y rayos cósmicos en las zonas poco profundas de las nubes moleculares y las regiones circunestelares. En un sistema de vacío, P ˜ 10-7 mbar, simulamos la deposición de hielo a partir de 10 K y la irradiación ultravioleta por medio de una lámpara de descarga de hidrógeno activada con microondas. La evolución del hielo se observa por medio de un espectrómetro infrarrojo. De este modo es posible determinar la composición del hielo observado en el medio interestelar y predecir la presencia de moléculas aún no detectadas en el espacio, que han sido producto del procesamiento del hielo en nuestros experimentos. También es posible calentar el sistema hasta temperatura ambiente para sublimar el hielo depositado. Cuando el hielo ha sido previamente irradiado, se observa un residuo compuesto por moléculas orgánicas complejas, algunas prebióticas, como varios ácidos carboxílicos, aminas, amidas, ésteres y en menor proporción moléculas heterocíclicas y aminoácidos. Algunas de estas moléculas podrían detectarse en estado gaseoso por medio de observaciones milimétricas y de radio. También podrían estar presentes en el polvo cometario, cuyo análisis químico está planeado por las misiones Stardust y Rosetta. Mientras tanto, nuestro grupo está llevando a cabo el análisis de partículas de polvo interplanetario (IDPs), algunas de las cuales pueden ser de origen cometario. Al igual que ocurre con los productos obtenidos por irradiación del hielo en nuestros experimentos, algunas IDPs son ricas en material orgánico que contiene oxígeno.

  15. Rib Cage Deformities Alter Respiratory Muscle Action and Chest Wall Function in Patients with Severe Osteogenesis Imperfecta

    PubMed Central

    LoMauro, Antonella; Pochintesta, Simona; Romei, Marianna; D'Angelo, Maria Grazia; Pedotti, Antonio; Turconi, Anna Carla; Aliverti, Andrea

    2012-01-01

    Background Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility, multiple fractures and significant chest wall deformities. Cardiopulmonary insufficiency is the leading cause of death in these patients. Methods Seven patients with severe OI type III, 15 with moderate OI type IV and 26 healthy subjects were studied. In addition to standard spirometry, rib cage geometry, breathing pattern and regional chest wall volume changes at rest in seated and supine position were assessed by opto-electronic plethysmography to investigate if structural modifications of the rib cage in OI have consequences on ventilatory pattern. One-way or two-way analysis of variance was performed to compare the results between the three groups and the two postures. Results Both OI type III and IV patients showed reduced FVC and FEV1 compared to predicted values, on condition that updated reference equations are considered. In both positions, ventilation was lower in OI patients than control because of lower tidal volume (p<0.01). In contrast to OI type IV patients, whose chest wall geometry and function was normal, OI type III patients were characterized by reduced (p<0.01) angle at the sternum (pectus carinatum), paradoxical inspiratory inward motion of the pulmonary rib cage, significant thoraco-abdominal asynchronies and rib cage distortions in supine position (p<0.001). Conclusions In conclusion, the restrictive respiratory pattern of Osteogenesis Imperfecta is closely related to the severity of the disease and to the sternal deformities. Pectus carinatum characterizes OI type III patients and alters respiratory muscles coordination, leading to chest wall and rib cage distortions and an inefficient ventilator pattern. OI type IV is characterized by lower alterations in the respiratory function. These findings suggest that functional assessment and treatment of OI should be differentiated in these two forms of the disease. PMID:22558284

  16. Meningiomas del foramen magno: Reporte de 12 casos y revisión de la literatura

    PubMed Central

    Campero, Álvaro; Ajler, Pablo; Roman, Guillermo; Rivadeneira, Conrado

    2017-01-01

    Resumen Objetivo: El propósito del presente trabajo es presentar los resultados de 12 pacientes con diagnóstico de meningiomas del foramen magno (MFM), de localización anterior o lateral, operados con técnicas microquirúrgicas. Método: Desde Junio de 2005 a Diciembre de 2016, 12 pacientes con diagnóstico de MFM fueron intervenidos quirúrgicamente. Se evaluó: edad, sexo, localización de la lesión (anterior o lateral), sintomatología, tipo de abordaje utilizado y resultados postoperatorios. Resultados: De los pacientes intervenidos, 8 fueron mujeres y 4 varones. La edad promedio fue de 47 años. La localización fue anterior en 8 casos y lateral en 4 casos. La sintomatología más frecuente fue dolor occipito-cervical (8 casos), seguido de tetraparesia (3 casos). En los pacientes con MFM de localización anterior se realizó un abordaje extremo-lateral transcondilar (ELTC), mientras que en los tumores laterales el abordaje fue extremo-lateral retrocondilar (ELRC). En 10 casos la resección fue completa. En dos pacientes fue necesario dejar una pequeña lámina de meningioma sobre la arteria vertebral y a nivel del foramen yugular. Como complicaciones postoperatorias, 3 pacientes presentaron una paresia del XII nervio craneano y 2 pacientes paresia del XI nervio craneano; además, 1 paciente presentó una fístula de LCR. Conclusión: La cirugía de los MFM de localización anterior y lateral puede ser realizada de forma segura y efectiva. Es necesario: a) buen conocimiento anatómico de la región; b) disecar los músculos de la nuca en 2 planos, exponiendo el triángulo suboccipital y la arteria vertebral (AV); 3) realizar un abordaje ELRC en los tumores laterales, y ELTC en los tumores anteriores; y 4) buena técnica microquirúrgica. PMID:29142778

  17. Paleoenvironmental changes during the past 2000 years, evidence from Kongsfjorden, Svalbard

    NASA Astrophysics Data System (ADS)

    Jernas, P.; Kristensen, D.; Koc, N.; Skirbekk, K.

    2009-04-01

    of fine grained sediment and decrease in ice rafting indicating less influence from glaciers. The foraminiferal species composition show decreasing content of agglutinated foraminifera down core caused by their low preservation potential. For this core site it confirms the importance of calcareous foraminifera as a fossil record tool. The two dominant species in the core are Elphidium excavatum and Nonionellina labradorica. During the last 2000 years the percentage of E. excavatum shows a general tendency to decrease while N. labradorica increases toward present. Elphidium excavatum is typical for arctic glaciomarine environments close to glaciers and ice caps, indicating harsh conditions (cold bottom waters temperatures, lower salinity) and probably extensive ice cover. Nonionellina labradorica indicates the vicinity of oceanographic fronts and high productivity. Another species Islandiella spp., often associated with increased productivity and presence of the sea ice edge, shows significant increase in percentage from 1000 to 800 cal yr BP. From 600 to 400 cal yr BP Bucella spp. start to decline suggesting increased sea ice cover and diminished influence of the Coastal Current on the inner shelf of Svalbard.

  18. Contribución al flujo infrarrojo de las estrellas Be de la recombinación dielectrónica del MgII

    NASA Astrophysics Data System (ADS)

    Cruzado, A.; di Rocco, H.; Ringuelet, A.

    Para evaluar la contribución del proceso de recombinación dielectrónica del átomo de MgII al exceso de flujo infrarrojo observado en las estrellas Be, calculamos la energía emitida en las líneas originadas por este proceso. Se evaluaron los efectos de las condiciones físicas del medio, como la temperatura electrónica y la densidad electrónica, sobre el flujo emitido. Se consideró también la influencia de una posible opacidad.

  19. Synthetic Spectral Analysis of the Far Ultraviolet Spectra of the Old Nova HR Del

    NASA Astrophysics Data System (ADS)

    Robertson, Jordan; Sion, E.

    2012-05-01

    We present a synthetic spectral analysis of the archival IUE far ultraviolet spectra of the post-nova, HR Del (Nova Del 1967). The system has an estimated white dwarf mass of 0.55 Msun (Ritter and Kolb 2003), orbital period P_orb = 0.214165 days, estimated orbital inclination of 40 degrees (Keurster 1988) and distance determinations in the literature ranging from 970 pc to 285 pc. The spectra reveal P Cygni profiles indicative of wind outflow from the disk and closely resemble the IUE spectra of UX UMa nova-likes, which have never had recorded outbursts. We de-reddened the archival IUE spectra using E(B-V) = 0.16. Our synthetic spectral analysis utilized optically thick, steady state accretion disk models and white dwarf model atmospheres that we constructed using TLUSTY and SYNSPEC (Hubeny 1988, Hubeny and Lanz (1995). Our input parameters were the white dwarf mass, inclination and a range of accretion rates for which we found the best-fitting model. We report the results of our model fitting and compare HR Del with other post-novae at comparable times past their nova outburst. This work was supported by NSF grant 0807892 to Villanova University

  20. La meridiana di Egnazio Danti nella Torre dei Venti in Vaticano: un'icona della riforma Gregoriana del calendario

    NASA Astrophysics Data System (ADS)

    Sigismondi, Costantino

    2014-05-01

    La Torre dei Venti domina l’angolo Sud Ovest del cortile della Pigna (nell'area dei Musei Vaticani), ed è inclusa negli ambienti dell'Archivio Segreto Vaticano. Non è aperta al pubblico, ma è universalmente nota per la fama che da oltre quattrocento anni la circonda, legata alle vicende della riforma Gregoriana del calendario. La meridiana tracciata da padre Egnazio Danti (1536-1586) nella torre dei Venti, fu visitata anche da Gregorio XIII, probabilmente il 21 marzo 1581 come suppone il padre Stein, per convincersi dell'anticipo ormai arrivato a dieci giorni dell'equinozio di primavera sulla data che il concilio di Nicea aveva fissato al 21 marzo per il computo pasquale. La ricognizione astrometrica del febbraio-marzo 2009 fatta dall'autore viene qui presentata.

  1. Increasing the Endoplasmic Reticulum Pool of the F508del Allele of the Cystic Fibrosis Transmembrane Conductance Regulator Leads to Greater Folding Correction by Small Molecule Therapeutics.

    PubMed

    Chung, W Joon; Goeckeler-Fried, Jennifer L; Havasi, Viktoria; Chiang, Annette; Rowe, Steven M; Plyler, Zackery E; Hong, Jeong S; Mazur, Marina; Piazza, Gary A; Keeton, Adam B; White, E Lucile; Rasmussen, Lynn; Weissman, Allan M; Denny, R Aldrin; Brodsky, Jeffrey L; Sorscher, Eric J

    2016-01-01

    Small molecules that correct the folding defects and enhance surface localization of the F508del mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) comprise an important therapeutic strategy for cystic fibrosis lung disease. However, compounds that rescue the F508del mutant protein to wild type (WT) levels have not been identified. In this report, we consider obstacles to obtaining robust and therapeutically relevant levels of F508del CFTR. For example, markedly diminished steady state amounts of F508del CFTR compared to WT CFTR are present in recombinant bronchial epithelial cell lines, even when much higher levels of mutant transcript are present. In human primary airway cells, the paucity of Band B F508del is even more pronounced, although F508del and WT mRNA concentrations are comparable. Therefore, to augment levels of "repairable" F508del CFTR and identify small molecules that then correct this pool, we developed compound library screening protocols based on automated protein detection. First, cell-based imaging measurements were used to semi-quantitatively estimate distribution of F508del CFTR by high content analysis of two-dimensional images. We evaluated ~2,000 known bioactive compounds from the NIH Roadmap Molecular Libraries Small Molecule Repository in a pilot screen and identified agents that increase the F508del protein pool. Second, we analyzed ~10,000 compounds representing diverse chemical scaffolds for effects on total CFTR expression using a multi-plate fluorescence protocol and describe compounds that promote F508del maturation. Together, our findings demonstrate proof of principle that agents identified in this fashion can augment the level of endoplasmic reticulum (ER) resident "Band B" F508del CFTR suitable for pharmacologic correction. As further evidence in support of this strategy, PYR-41-a compound that inhibits the E1 ubiquitin activating enzyme-was shown to synergistically enhance F508del rescue by C18, a small

  2. Cayler cardiofacial syndrome and del 22q11: Part of the CATCH22 phenotype

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Giannotti, A.; Digilio, M.C.; Marino, B.

    1994-11-15

    The authors report evidence supporting the hypothesis that del(22)(q11) can be a pathogenetic mechanism for the association between hypoplasia of the depressor anguli oris muscle (DAOM) and conotruncal cardiac malformations. A series of over 180 patients was investigated with deletions of 22q11 with conotruncal defects. About 2/3 of these patients had isolated, nonfamilial cardiac defects. Hemizygosity was searched using the HD7k probe and densitometric analysis. In the patients with molecular evidence of del(22)(q11), hemizygosity was confirmed also using fluorescence in situ hybridization (FISH) with SC11.1 probe. No deletion was found in the parents of hemizygous patients. 16 refs.

  3. [Tierra del Fuego: the scientific-political construction of exclusion and counter-image of the ideal city dweller].

    PubMed

    Nacach, Gabriela

    2012-01-01

    Due to its late incorporation into the national State, the social, economic and political setting of the Argentine province Tierra del Fuego differed from that of the rest of the national territory. In the construction of dependent otherness, objectifications and representations were imposed by state-related and non-state-related institutions, among other agencies. In this context, the Salesian mission of La Candelaria and Ushuaia's Jail for recidivists stand out as spaces in which biopolitics was concretised. The native population and criminals in Tierra del Fuego were those to be subjugated. The thesis of the extinction of the Indian and the simultaneous exaltation of the criminal as the subject of progress identified the scientific and political mechanisms by which the exclusion of certain social groups (Tierra del Fuego's indigenous population) and the inclusion of others (criminals) were regulated.

  4. Atypical E2F transcriptional repressor DEL1 acts at the intersection of plant growth and immunity by controlling the hormone salicylic acid.

    PubMed

    Chandran, Divya; Rickert, Joshua; Huang, Yingxiang; Steinwand, Michael A; Marr, Sharon K; Wildermuth, Mary C

    2014-04-09

    In plants, the activation of immunity is often inversely correlated with growth. Mechanisms that control plant growth in the context of pathogen challenge and immunity are unclear. Investigating Arabidopsis infection with the powdery mildew fungus, we find that the Arabidopsis atypical E2F DEL1, a transcriptional repressor known to promote cell proliferation, represses accumulation of the hormone salicylic acid (SA), an established regulator of plant immunity. DEL1-deficient plants are more resistant to pathogens and slightly smaller than wild-type. The resistance and size phenotypes of DEL1-deficient plants are due to the induction of SA and activation of immunity in the absence of pathogen challenge. Moreover, Enhanced Disease Susceptibility 5 (EDS5), a SA transporter required for elevated SA and immunity, is a direct repressed target of DEL1. Together, these findings indicate that DEL1 control of SA levels contributes to regulating the balance between growth and immunity in developing leaves. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Taos Smart Growth Implementation Assistance: Concepts for the Paseo del Pueblo Sur Corridor

    EPA Pesticide Factsheets

    This report describes a technical assistance project with Taos, NM, to help make development along State Highway 68, the Paseo del Pueblo Sur commercial corridor, economically stronger and more attractive.

  6. Analysis of density and epitopes of D antigen on the surface of erythrocytes from DEL phenotypic individuals carrying the RHD1227A allele.

    PubMed

    Gu, Juan; Sun, An-Yuan; Wang, Xue-Dong; Shao, Chao-Peng; Li, Zheng; Huang, Li-Hua; Pan, Zhao-Lin; Wang, Qing-Ping; Sun, Guang-Ming

    2014-04-01

    The characteristics of the D antigen are important as they influence the immunogenicity of D variant cells. Several studies on antigenic sites have been reported in normal D positive, weak D and partial D cases, including a comprehensive analysis of DEL types in Caucasians. The aim of this study was to assess D antigen density and epitopes on the erythrocyte surface of Asian type DEL phenotypic individuals carrying the RHD1227A allele in the Chinese population. A total of 154 DEL phenotypic individuals carrying the RHD1227A allele were identified through adsorption and elution tests and polymerase chain reaction analysis with sequence-specific primers in the Chinese population. D antigen density on the erythrocyte surface of these individuals was detected using a flow cytometric method. An erythrocyte sample with known D antigen density was used as a standard. Blood samples from D-negative and D-positive individuals were used as controls. In addition, D antigen epitopes on the erythrocyte surface of DEL individuals carrying the RHD1227A allele were investigated with 18 monoclonal anti-D antibodies specific for different D antigen epitopes. The means of the median fluorescence intensity of D antigen on the erythrocyte membrane surface of D-negative, D-positive and DEL individuals were 2.14±0.25, 193.61±11.43 and 2.45±0.82, respectively. The DEL samples were estimated to have approximately 22 D antigens per cell. The samples from all 154 DEL individuals reacted positively with 18 monoclonal anti-D antibodies specific for different D antigen epitopes. In this study, D antigen density on the erythrocyte surface of DEL individuals carrying the RHD1227A allele was extremely low, there being only very few antigenic molecules per cell, but the D antigen epitopes were grossly complete.

  7. Tratamiento Quirúrgico de los Meningiomas del Foramen Óptico, Técnicay Resultados de una Serie de 18 Pacientes

    PubMed Central

    Goldschmidt, Ezequiel; Ajler, Pablo; Campero, Álvaro; Landriel, Federico; Sposito, Maximiliano; Carrizo, Antonio

    2014-01-01

    Introducción: los meningiomas del foramen óptico producen un rápido deterioro de la función visual aún cuando su tamaño es pequeño, por eso su diagnóstico y manejo difiere del resto de los meningiomas clinoideos. El propósito de este estudio es presentar la técnica y los resultados de nuestro manejo quirúrgico de meningiomas foraminales (MF). Pacientes y Métodos: se llevó a cabo una revisión de las historias clínicas de 47 pacientes con meningiomas primarios intraorbitarios. Se realizaron 52 cirugías en los pacientes con MF. Se empleó una craneotomía fronto-orbitaria, seguida de una descompresión extradural del canal óptico, resección del componente intraorbitario y exploración intradural del nervio óptico. Resultados: de los 12 pacientes con MF que presentaban la visión conservada, la agudeza visual fue preservada en 7 casos, mejoró en 2, y empeoró en 3. En 18 pacientes, el principal síntoma fue exoftalmos y en 35 pacientes ceguera unilateral. Ocurrieron 6 recurrencias, 2 a 10 años después de la resección quirúrgica. Cinco de ellos fueron reoperados. Se indicó radioterapia después de la recurrencia en 3 pacientes. Conclusión: el manejo de los MF continúa siendo controvertido y frecuentemente se propone un tratamiento conservador. Basados en nuestros hallazgos de frecuente extensión intracraneal, proponemos realizar una resección total o subtotal del tumor, preservando el nervio óptico en pacientes con visión prequirúrgica conservada. PMID:25165616

  8. Heat flow and thermal processes in the Jornada delMuerto, New Mexico

    NASA Technical Reports Server (NTRS)

    Reiter, M.

    1985-01-01

    Most heat flow data in rifts are uncertain largely because of hydrologic disturbances in regions of extensive fracturing. Estimates of heat flow in deep petroleum tests within a large basin of the Rio Grande rift, which has suffered little syn-rift fracturing, may begin to provide clearer insight into the relationships between high heat flow and crustal thinning processes. The Jornada del Muerto is a large basin located in the Rio Grande rift of south central New Mexico. The region of interest within the Jornada del Muerto is centered about 30 km east of the town of Truth or Consequences, and is approximately 60 km north-south by 30 km east-west. High heat flows are estimated for the region. Values increase from about 90 mWm(-2) in the northern part of the study area to about 125 mWm(-2) in the southern part. These high heat flows are rather enigmatic because in the immediate vicinities of the sites there is little evidence of Cenozoic volcanism or syn-rift extensional tectonics. It is suggested that the geothermal anomaly in the southern Jornada del Muerto (approx. 125 to approx. 95 mWm(-2) results from some type of mass movement-heat transfer mechanism operating in the crust just below the elastic layer. This conclusion is consistent with the geologic and geophysical data which describe a thin crust, apparently devoid of features indicative of extensional-tectonics in the upper part of the lastic crust.

  9. Cambios históricos en el aporte terrígeno de la cuenca del Río de la Plata sobre la plataforma interna Uruguaya

    NASA Astrophysics Data System (ADS)

    Marrero, Analía; Tudurí, Adriana; Pérez, Laura; Cuña, Caroline; Muniz, Pablo; Lopes Figueira, Rubens; Michaelovitch de Mahiques, Michel; Alves de Lima Ferreira, Paulo; Pittauerová, Daniela; Hanebuth, Till; García Rodríguez, Felipe

    2014-12-01

    El Río de la Plata (RdlP) presenta significativas variaciones naturales (hidrodinámicas y oceanográficas) asociadas a diferentes condiciones climáticas. El propósito de este trabajo es inferir los cambios de aportes continentales de sedimentos y su relación con las variaciones hidrológicas del Río de la Plata, a través del análisis de proxies sedimentológicos y geoquímicos en testigos de sedimentos de la plataforma interna uruguaya que registran los últimos 100 años, aproximadamente. A partir de la datación por 210Pb de dos testigos de sedimentos (GeoB 13813-4 y BAR1) se reconstruyó la geocronología del ambiente, y se relacionó con datos de las forzantes climáticas Pacific Decadal Oscillation, El Niño/La Niña Southern Oscillation, Atlantic Multidecadal Oscillation, y las anomalías hidrológicas de los ríos Paraná y Uruguay. Los valores más positivos y estables del Southern Oscillation Index, los cuales corresponden a fases La Niña, se observan en el periodo correspondiente entre 1910-1970, respecto al resto de la serie, donde se aprecia una mayor variabilidad y una tendencia hacia valores más negativos (eventos El Niño). Se hicieron dendrogramas (clustering) jerárquicos para ambos testigos. Para el testigo GeoB 13813-4, se utilizó la relación Ca/Ti y la granulometría, mientras que para BAR1 se recurrió a variables granulométricas y la tasa de sedimentación. El mayor aporte continental hacia la región de la plataforma adyacente al Río de la Plata registrado a partir del año 1970, podría ser el factor principal de los agrupamientos observados en los clusters para ambos testigos. Las agrupaciones mostraron una diferenciación en la década de 1970, lo que estaría asociado al aumento de los caudales de los ríos Paraná y Uruguay, durante las últimas tres décadas del siglo XX. Por otra parte se observa que la granulometría del testigo BAR1 presentó un mayor tamaño de grano y más variabilidad que en el caso del testigo Geo

  10. Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

    PubMed Central

    Dillenburg, Crisle Vignol; Bandeira, Isabel Cristina; Tubino, Taiana Valente; Rossato, Luciana Grazziotin; Dias, Eleonora Souza; Bittelbrunn, Ana Cristina; Leistner-Segal, Sandra

    2012-01-01

    Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a “bottleneck”, which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations. PMID:23055798

  11. Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil.

    PubMed

    Dillenburg, Crisle Vignol; Bandeira, Isabel Cristina; Tubino, Taiana Valente; Rossato, Luciana Grazziotin; Dias, Eleonora Souza; Bittelbrunn, Ana Cristina; Leistner-Segal, Sandra

    2012-07-01

    Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck", which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations.

  12. High precision ages from the Torres del Paine Intrusion, Chile

    NASA Astrophysics Data System (ADS)

    Michel, J.; Baumgartner, L.; Cosca, M.; Ovtcharova, M.; Putlitz, B.; Schaltegger, U.

    2006-12-01

    The upper crustal bimodal Torres del Paine Intrusion, southern Chile, consists of the lower Paine-Mafic- Complex and the upper Paine-Granite. Geochronologically this bimodal complex is not well studied except for a few existing data from Halpern (1973) and Sanchez (2006). The aim of this study is to supplement the existing data and to constrain the age relations between the major magmatic pulses by applying high precision U-Pb dating on accessory zircons and 40Ar/39Ar-laser-step-heating-ages on biotites from the Torres del Paine Intrusion. The magmatic rocks from mafic complex are fine to medium-grained and vary in composition from quartz- monzonites to granodiorites and gabbros. Coarse-grained olivine gabbros have intruded these rocks in the west. The granitic body is represented by a peraluminous, biotite-orthoclase-granite and a more evolved leucocratic granite in the outer parts towards the host-rock. Field observations suggest a feeder-zone for the granite in the west and that the granite postdates the mafic complex. Two granite samples of the outermost margins in the Northeast and South were analyzed. The zircons were dated by precise isotope-dilution U-Pb techniques of chemically abraded single grains. The data are concordant within the analytical error and define weighted mean 206/238U ages of 12.59 ± 0.03 Ma and 12.58 ± 0.01 Ma for the two samples respectively. A 40Ar/39Ar-age for the second sample yield a date of 12.37 ± 0.11 Ma. Three 40Ar/39Ar -ages of biotites were obtained for rocks belonging to the mafic complex. A hbl-bio- granodiorite from the central part, approximately 150 m below the subhorizontal contact with the granite, gives an age of 12.81 ± 0.11 Ma. A hbl-bio-granodiorite and an olivine-gabbro west of the feeder-zone date at 12.42 ± 0.14 Ma and 12.49 ± 0.11 Ma, respectively. The obtained older age of 12.81 Ma for the granodiorite in the central part is consistent with structural relationships of brittle fracturing of the mafic

  13. Variation in mangrove forest structure and sediment characteristics in Bocas del Toro, Panama

    USGS Publications Warehouse

    Lovelock, C.E.; Feller, Ilka C.; McKee, K.L.; Thompson, R.

    2005-01-01

    Mangrove forest structure and sediment characteristics were examined in the extensive mangroves of Bocas del Toro, Republic of Panama. Forest structure was characterized to determine if spatial vegetation patterns were repeated over the Bocas del Toro landscape. Using a series of permanent plots and transects we found that the forests of Bocas del Toro were dominated by Rhizophora mangle with very few individuals of Avicennia germinans and Laguncularia racemosa. Despite this low species diversity, there was large variation in forest structure and in edaphic conditions (salinity, concentration of available phosphorus, Eh and sulphide concentration). Aboveground biomass varied 20-fold, from 6.8 Mg ha-1 in dwarf forests to 194.3 Mg ha-1 in the forests fringing the land. But variation in forest structure was predictable across the intertidal zone. There was a strong tree height gradient from seaward fringe (mean tree height 3.9 m), decreasing in stature in the interior dwarf forests (mean tree height 0.7 m), and increasing in stature in forests adjacent to the terrestrial forest (mean tree height 4.1 m). The predictable variation in forest structure emerges due to the complex interactions among edaphic and plant factors. Identifying predictable patterns in forest structure will aid in scaling up the ecosystem services provided by mangrove forests in coastal landscapes. Copyright 2005 College of Arts and Sciences.

  14. CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

    PubMed

    Adank, Muriel A; Jonker, Marianne A; Kluijt, Irma; van Mil, Saskia E; Oldenburg, Rogier A; Mooi, Wolter J; Hogervorst, Frans B L; van den Ouweland, Ans M W; Gille, Johan J P; Schmidt, Marjanka K; van der Vaart, Aad W; Meijers-Heijboer, Hanne; Waisfisz, Quinten

    2011-12-01

    Mutations in the CHEK2 gene confer a moderately increased breast cancer risk. The risk for female carriers of the CHEK2*1100delC mutation is twofold increased. Breast cancer risk for carrier women is higher in a familial breast cancer setting which is due to coinheritance of additional genetic risk factors. This study investigated the occurrence of homozygosity for the CHEK2*1100delC allele among familial breast cancer cases and the associated breast cancer risk. Homozygosity for the CHEK2*1100delC allele was identified in 8/2554 Dutch independent familial non-BRCA1/2 breast cancer cases. The genotype relative risk for breast cancer of homozygous and heterozygous familial breast cancer cases was 101.34 (95% CI 4.47 to 121 000) and 4.04 (95% CI 0.88 to 21.0), respectively. Female homozygotes appeared to have a greater than twofold increased breast cancer risk compared to familial CHEK2*1100delC heterozygotes (p=0.044). These results and the occurrence of multiple primary tumours in 7/10 homozygotes indicate a high cancer risk in homozygous women from non-BRCA1/2 families. Intensive breast surveillance is therefore justified in these homozygous women. It is concluded that diagnostic testing for biallelic mutations in CHEK2 is indicated in non-BRCA1/2 breast cancer families, especially in populations with a relatively high prevalence of deleterious mutations in CHEK2.

  15. Optimal time travel in the Gödel universe

    NASA Astrophysics Data System (ADS)

    Natário, José

    2012-04-01

    Using the theory of optimal rocket trajectories in general relativity, recently developed in Henriques and Natário (2011), we present a candidate for the minimum total integrated acceleration closed timelike curve in the Gödel universe, and give evidence for its minimality. The total integrated acceleration of this curve is lower than Malament's conjectured value (Malament 1984), as was already implicit in the work of Manchak (Gen. Relativ. Gravit. 51-60, 2011); however, Malament's conjecture does seem to hold for periodic closed timelike curves.

  16. 78 FR 74008 - Amendment of Class E Airspace; Del Rio, TX

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-10

    ... Laughlin Air Force Base (AFB). The FAA is taking this action to enhance the safety and management of... at Laughlin AFB, Del Rio, TX. An additional segment to the north is needed to contain approach category E military aircraft conducting circling approaches to the airport, to retain the safety and...

  17. From badge of pride to cause of stigma: combatting mal del pinto in Mexico.

    PubMed

    Carrillo, Ana María

    2013-03-01

    Mal del pinto is a dermatological disease characterized by discoloured patches of skin on the face and body. It has been present in what is now the territory of Mexico from before the Spanish conquest up to recent times. Though early concerns for mal del pinto as a public health problem can be traced back to the late 19th century, no campaign to combat the disease was undertaken until the second half of the 20th. Thanks to the effectiveness of treatment with penicillin, the fight against this illness--which was once assumed as a symbol of pride--enjoyed a broader acceptance among the population that other health campaigns. Copyright © 2013 Elsevier Ltd. All rights reserved.

  18. Descripción del coronógrafo a ser instalado en Argentina (MICA)

    NASA Astrophysics Data System (ADS)

    Stenborg, G.; Francile, C.; Schwenn, R.; Epple, A.; Rovira, M.

    El ``Coronógrafo de espejo para Argentina'' es un telescopio solar terrestre a ser colocado en el Observatorio Astronómico Félix Aguilar (El Leoncito), antes de finalizar 1996, como parte de un programa de ciencia bilateral entre Alemania y Argentina. Eclipses fotográficos de alta resolución han revelado que la corona solar es altamente estructurada y variable. De hecho, está contínuamente deformada y moldeada por los movimientos convectivos de los extremos de los arcos magnéticos en la fotosfera, estando, en muchas oportunidades, afectada por explosivas liberaciones de energía. MICA, en conjunción con otros telescopios solares espaciales y terrestres, tratará de contribuir al entendimiento de cuestiones fundamentales de la física solar. Entre ellas: cómo la corona está siendo calentada, dónde y cómo el viento solar es acelerado, qué causa los transitorios coronales, etc. Para ello investigará la distribución de los parámetros del plasma y su evolución con el tiempo, la estructura espacial de la corona en fina y gran escala, procesos que ocurren en los transitorios coronales y factores que los disparan, etc. Para responder a estas cuestiones MICA observará la atmósfera solar por sobre el limbo entre 1.1 y 2 radios solares aproximadamente, usando un nuevo tipo de sistema coronográfico que permite suprimir el brillo del disco solar suficientemente bien, tomando las imágenes con una cámara CCD de 1024x1024 pixels, codificada en 12 bits, pudiendo el mismo ser operado en forma remota. En la presente exposición describiremos las características del instrumento, cómo será controlado y qué esperamos observar basados en las imágenes obtenidas por los telescopios de similares características LASCO C1 a bordo del SOHO y PICO (ubicado en el Observatorio de Pic du Midi, Francia).

  19. 77 FR 4897 - Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, VA

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-01

    ...-AA00 Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, VA AGENCY: Coast... provide for the safety of life on navigable waters during the live-fire gun exercises on the M/V Del Monte... associated with the live-fire gun exercise. DATES: This rule is effective in the CFR on February 1, 2012...

  20. 76 FR 31848 - Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, Virginia

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-02

    ...-AA00 Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, Virginia AGENCY... provide for the safety of life on navigable waters during the live-fire gun exercises on the M/V Del Monte... associated with the live-fire gun exercise. DATES: This rule will be effective from 11 a.m. June 6, 2011...

  1. The CFTR trafficking mutation F508del inhibits the constitutive activity of SLC26A9.

    PubMed

    Bertrand, Carol A; Mitra, Shalini; Mishra, Sanjay K; Wang, Xiaohui; Zhao, Yu; Pilewski, Joseph M; Madden, Dean R; Frizzell, Raymond A

    2017-06-01

    Several members of the SLC26A family of anion transporters associate with CFTR, forming complexes in which CFTR and SLC26A functions are reciprocally regulated. These associations are thought to be facilitated by PDZ scaffolding interactions. CFTR has been shown to be positively regulated by NHERF-1, and negatively regulated by CAL in airway epithelia. However, it is unclear which PDZ-domain protein(s) interact with SLC26A9, a SLC26A family member found in airway epithelia. We have previously shown that primary, human bronchial epithelia (HBE) from non-CF donors exhibit constitutive anion secretion attributable to SLC26A9. However, constitutive anion secretion is absent in HBE from CF donors. We examined whether changes in SLC26A9 constitutive activity could be attributed to a loss of CFTR trafficking, and what role PDZ interactions played. HEK293 coexpressing SLC26A9 with the trafficking mutant F508del CFTR exhibited a significant reduction in constitutive current compared with cells coexpressing SLC26A9 and wt CFTR. We found that SLC26A9 exhibits complex glycosylation when coexpressed with F508del CFTR, but its expression at the plasma membrane is decreased. SLC26A9 interacted with both NHERF-1 and CAL, and its interaction with both significantly increased with coexpression of wt CFTR. However, coexpression with F508del CFTR only increased SLC26A9's interaction with CAL. Mutation of SLC26A9's PDZ motif decreased this association with CAL, and restored its constitutive activity. Correcting aberrant F508del CFTR trafficking in CF HBE with corrector VX-809 also restored SLC26A9 activity. We conclude that when SLC26A9 is coexpressed with F508del CFTR, its trafficking defect leads to a PDZ motif-sensitive intracellular retention of SLC26A9. Copyright © 2017 the American Physiological Society.

  2. Evaluation of HLA-G 14-bp ins/del and +3142G>C polymorphisms with susceptibility to recurrent spontaneous abortion.

    PubMed

    Hashemi, Mohammad; Mokhtari, Mojgan; Khazaeian, Safura; Bahari, Gholamreza; Rezaei, Maryam; Nakhaee, Alireza; Taheri, Mohsen

    2017-06-01

    HLA-G is critically important for successful implantation during pregnancy. Increasing evidence supposed that HLA-G plays a key role in tolerance of the semi-allogeneic graft in pregnancy by inhibiting the cytotoxic functions of T and NK cells. The present study aimed to evaluate the impact of HLA-G rs1063320 (+3142G>C) and 14-bp insertion (ins)/deletion (del) polymorphisms on recurrent spontaneous abortion (RSA). Genomic DNA from 93 RSA patients and 93 normal fertile women was isolated using the salting out method. Genotyping of HLA-G +3142G>C and 14-bp ins/del variants was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFP) and PCR method, respectively. The HLA-G +3142G>C polymorphism increased the risk of RSA in codominant (OR = 2.39, 95%CI = 1.27-4.49, p = 0.010, GC vs GG; OR = 3.28, 95%CI = 1.16-9.72, p = 0.040, CC vs GG) and dominant (OR = 2.52, 95%CI = 1.37-4.64, p = 0.004, GC + CC vs GG) tested inheritance models. HLA-G rs1063320 C allele was associated with increased risk of RSA (OR = 1.84, 95%CI = 1.20-2.83, p = 0.007). The del/del genotype as well as del allele of 14-bp ins/del variant increased that risk of RSA (OR = 3.02, 95%CI = 1.23-7.41, p = 0.025 and OR = 1.65, 95%CI = 1.09-2.50, p = 0.022, respectively). In summary, our results showed that HLA-G gene polymorphisms significantly increased the risk of RSA in a sample of the Iranian population. Copyright © 2017. Published by Elsevier B.V.

  3. The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.

    PubMed

    Dorobek, Małgorzata; Ryniewicz, Barbara; Kabzińska, Dagmara; Fidziańska, Anna; Styczyńska, Maria; Hausmanowa-Petrusewicz, Irena

    2015-11-01

    Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD. The c.550delA mutation in the CANP3 (calcium activated neutral protease 3) gene is the most commonly reported mutation in LGMD2A. Prevalence of this mutation in the Polish population has not been previously investigated. The aim of this study was to identify and estimate the frequency of the c.550delA mutation in Polish LGMD2A patients. Polymerase chain reaction-sequencing analysis, restriction fragment length polymorphism polymerase chain reaction method. We analyzed 76 families affected with LGMD and identified 62 probands with mutations in the CANP3 gene. C.550delA was the most common mutation identified, being found in 78% of the LGMD2A families. The remaining mutations observed multiple times were as follows: c.598-612del15ntd; c.2242C>T; c.418dupC; c.1356insT, listed in terms of decreasing frequency. Two novel variants in the CANP3 gene, that is, c.700G>A Gly234Arg and c.661G>A Gly221Ser were also characterized. Overall, mutations in the LGMD2A gene were estimated to be present in 81% of patients with the LGMD phenotype who were without sarcoglycans and dysferlin deficiency on immunocytochemical analysis. The frequency of the heterozygous c.550delA mutation in the healthy Polish population was estimated at 1/124. The c.550delA is the most frequent CANP3 mutation in the Polish population, thus sequencing of exon 4 of this gene could identify the majority of LGMD2A patients in Poland.

  4. Experience the magic of light and color: outreach activity by Universidad del Valle student chapter

    NASA Astrophysics Data System (ADS)

    Valdes, Claudia; Reyes, Camilo; Osorio, Alberto; Solarte, Efrain

    2010-08-01

    During 2007, the Universidad del Valle Student Chapter presented a proposal for developing an educational outreach activity for children from an underprivileged zone to the Optical Society of America Foundation (OSAF) and to SPIE. The activity was carried out jointly by OSA and SPIE Universidad del Valle Student Chapters in the hillsides of Santiago de Cali, in a zone known as "Pueblo Joven" during 2008. It was aimed to boys and girls with ages between 8 and 13 years and was called "Experience the magic of light and color". The main purpose was to bring the children some basic concepts on optics and to encourage them to explore science through optics. The Universidad del Valle Student Chapters designed a series of talks and practical workshops where children participated in hands-on experiments that easily explain the fundamental concepts of light phenomena. Afterwards the children presented their achievements in a small science fair offered to the community and tried to explain in their own words what they learned and built. In this work, we present the most successful experimental designs and the educational standards we tried to develop with this activity.

  5. Rethinking stratigraphy and site formation of the Pleistocene deposit at Cueva Negra del Estrecho del Río Quípar (Caravaca de la Cruz, Spain)

    NASA Astrophysics Data System (ADS)

    Angelucci, Diego E.; Anesin, Daniela; López Martínez, Mariano; Haber Uriarte, María; Rodríguez Estrella, Tomás; Walker, Michael J.

    2013-11-01

    Cueva Negra del Estrecho del Río Quípar (Caravaca de la Cruz, Murcia, Spain), hereinafter Cueva Negra, is a key-site for understanding the early peopling of Europe. Since 1990, systematic excavation has revealed an intriguing assemblage of lithic and faunal remains, and hominin teeth. It was deposited 0.99-0.78 Ma according to palaeomagnetic and biostratigraphical data; pollen data indicate warm moist conditions. Recently, possible evidence of thermal alteration was detected in a deep part of the deposit. We report here on our revision of the Cueva Negra stratigraphy, and offer information on site formation processes, based on new field observations and preliminary data from soil micromorphology. The Cueva Negra succession comprises three main stratigraphical complexes. Complex 1 is late Holocene. Complexes 2 and 3 are Pleistocene and are formed mainly of alluvial sediment, with subordinate inputs from the cave walls. Complexes 2 and 3 were accumulated almost without interruption, being separated by an erosive surface truncating a thin alluvial soil developed at the top of Complex 3. Our initial micromorphological findings indicate that anthropic inputs are mostly in derived positions, very likely having undergone inward displacement from the mouth of the rock-shelter.

  6. The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population.

    PubMed

    Marouf, Chaymaa; Hajji, Omar; Diakité, Brehima; Tazzite, Amal; Jouhadi, Hassan; Benider, Abdellatif; Nadifi, Sellama

    2015-01-01

    The cell-cycle checkpoint kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects has been associated with increased risk for breast cancer. The CHEK2 1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been described in Northern and Eastern European countries. However, the 1100delC mutation has been investigated in different case-control studies and none in Moroccan population. The aim of this study was to evaluate the prevalence of this variant and determine its contribution to the development of breast cancer in sporadic cases and also in members of breast cancer families who tested negative or positive for a deleterious mutation in BRCA1/BRCA2. In this case-control study we performed the CHEK2 1100delC mutation analysis by ASO-PCR in 134 breast cancer patients and 114 unaffected control individuals. Most of these families had several cases of breast cancer or ovarian cancer (or both). No CHEK2 1100delC mutations were detected in any of 134 individuals, including 59 women diagnosed with breast cancer at an early age (<40 years), 10 women with bilateral breast cancer, and 6 women with ovarian cancer. Our preliminary genetic analysis are consistent with the reported very low frequency of CHEK2 1100delC mutation in North American populations (compared with Northern Europe), rendering CHEK2 1100delC such as an unlikely to be major breast cancer susceptibility genes.

  7. Plan Multinacional de Educacion del Adulto (Multinational Plan for Adult Education).

    ERIC Educational Resources Information Center

    Eduplan Informa, 1971

    1971-01-01

    This document contains part of the final report from the first meeting of the Inter-American Council on Education, Science, and Culture, held in Vina del Mar, Chile, in 1970. The report presents general policy and guidelines which should be followed in the establishment of adult elementary education programs. The general discussion covers literacy…

  8. Ceratopetalum (Cunoniaceae) fruits of Australasian affinity from the early Eocene Laguna del Hunco flora, Patagonia, Argentina

    PubMed Central

    Hermsen, Elizabeth J

    2017-01-01

    Abstract Background and Aims Radially symmetrical, five-winged fossil fruits from the highly diverse early Eocene Laguna del Hunco flora of Chubut Province, Patagonia, Argentina, are named, described and illustrated. The main goals are to assess the affinities of the fossils and to place them in an evolutionary, palaeoecological and biogeographic context. Methods Specimens of fossil fruits were collected from the Tufolitas Laguna del Hunco. They were prepared, photographed and compared with similar extant and fossil fruits using published literature. Their structure was also evaluated by comparing them with that of modern Ceratopetalum (Cunoniaceae) fruits through examination of herbarium specimens. Key Results The Laguna del Hunco fossil fruits share the diagnostic features that characterize modern and fossil Ceratopetalum (symmetry, number of fruit wings, presence of a conspicuous floral nectary and overall venation pattern). The pattern of the minor wing (sepal) veins observed in the Patagonian fossil fruits is different from that of modern and previously described fossil Ceratopetalum fruits; therefore, a new fossil species is recognized. An apomorphy (absence of petals) suggests that the fossils belong within crown-group Ceratopetalum. Conclusions The Patagonian fossil fruits are the oldest known record for Ceratopetalum. Because the affinities, provenance and age of the fossils are so well established, this new Ceratopetalum fossil species is an excellent candidate for use as a calibration point in divergence dating studies of the family Cunoniaceae. It represents the only record of Ceratopetalum outside Australasia, and further corroborates the biogeographic connection between the Laguna del Hunco flora and ancient and modern floras of the Australasian region. PMID:28110267

  9. "Gioco del Mondo" an Alpine Hopscotch Game and Prehistoric Cosmology. (Italian Title: Il "Gioco del Mondo" e il cosmo preistorico)

    NASA Astrophysics Data System (ADS)

    Ragazzi, G.

    2015-04-01

    "Gioco del Mondo" ("Hopscotch game" in Anglo-Saxon countries), is a children's game in which the memory of a knowledge belonging to the prehistory of western thought is preserved. The path of the game is an image of the cosmos. The jumps allow the player to move from one region to another in the cosmos, in order to retrieve the pebble, wich is interpreted as a symbol of the human soul. The game is the imitation of a healing ritual in which a shaman brings back the soul kidnapped by a spirit from in his headquarters in a region of the cosmos.

  10. Photography and Neobaroque Imaginary in Julio Cortázar's "Las babas del diablo": Can the Neobaroque Name a Photograph?

    ERIC Educational Resources Information Center

    Hakobyan, Liana

    2018-01-01

    This article examines Julio Cortázar's short story "Las babas del diablo" from a visual perspective and at the intersection of Roland Barthes's ideas on photography and Severo Sarduy's theory on the Neobaroque. I propose that in "Las babas del diablo" photography and the Neobaroque--two seemingly unrelated concepts--interact…

  11. 78 FR 52716 - Proposed Amendment of Class E Airspace; Del Rio, TX

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-26

    ..., Del Rio, TX. An additional segment to the north is needed to contain approach category E military aircraft conducting circling approaches to the airport, to retain the safety and management of IFR aircraft... to enhance the safety and management of Instrument Flight Rules (IFR) operations for instrument...

  12. Determining sex and life stage of Del Norte salamanders from external cues

    Treesearch

    Lisa Ollivier; Hartwell H. Welsh Jr

    2003-01-01

    Life stage determination for many western plethodontids often requires dissection of the specimen. Availability of reliable external measures that could be applied under field conditions would enhance future studies of the genus Plethodon. We examined preserved specimens of the Del Norte Salamander, Plethodon elongatus, taken from...

  13. Aplicación del Teorema de Nekhorochev para tiempos de estabilidad en Mecánica Celeste

    NASA Astrophysics Data System (ADS)

    Miloni, O.; Núñez, J.; Brunini, A.

    En Mecánica Celeste, uno de los problemas centrales consiste en la determinación de los tiempos de estabilidad. El teorema de Nekhorochev proporciona un método para dicho estudio, para un sistema determinado por un hamiltoniano descripto en las variables acción-ángulo. El trabajo consiste en la acotación tanto del potencial perturbador y de la matriz hessiana del hamiltoniano integrable para determinar luego el tiempo de estabilidad de dicho sistema, donde por estabilidad se entiende la separación en norma infinito en el espacio de las acciones.

  14. History and Use of del Nido Cardioplegia Solution at Boston Children’s Hospital

    PubMed Central

    Matte, Gregory S.; del Nido, Pedro J.

    2012-01-01

    Abstract: Cardioplegia is an integral and essential method of myocardial protection for patients of all ages requiring cardiac surgery in which the heart must be stopped. Numerous cardioplegia solutions and delivery methods have been developed. The del Nido cardioplegia solution has been in use for 18 years at Boston Children’s Hospital. This is a unique four parts crystalloid to one part whole blood formulation that is generally used in a single-dose fashion. Although the formulation was originally developed for use in pediatric and infant patients, its use for adult cardiac surgery has been expanding. National and international inquiries to our institution regarding this cardioplegia have been increasing over the last 2 years. We present the developmental history, supporting theory, and current protocol for use of what is now referred to as del Nido cardioplegia. PMID:23198389

  15. Estudio del comportamiento tribologico y de las interacciones de superficie de nuevos nanofluidos ionicos

    NASA Astrophysics Data System (ADS)

    Espinosa Rodriguez, Tulia

    tribocorrosion processes. The formation of a coating layer on magnesium alloys from phosphonate imidazolium ionic liquids by immersion and by chronoamperometry has been described. The new coatings reduce the abrasive wear in the magnesium-aluminium alloy but they are not effective in the magnesium-zinc alloy, which prevent the formation of continuous coatings. Los liquidos ionicos son sales liquidas a temperatura ambiente o bajas temperaturas que presentan excelentes propiedades fisico-quimicas. En el presente trabajo se estudian como lubricantes en problemas tribologicos complejos como la lubricacion de metales contra si mismos, el desarrollo de lubricantes base agua y de nuevas superficies autolubricadas. Cuando no es posible reducir la friccion y desgaste mediante lubricacion, como en las aleaciones de magnesio, los liquidos ionicos se han estudiado como precursores de recubrimientos protectores. Se han determinado las interacciones superficiales y los procesos de corrosion sobre cobre y sobre acero con diferentes liquidos ionicos proticos y aproticos para desarrollar nuevos lubricantes y aditivos. En el contacto cobre/cobre, excepto el liquido ionico protico derivado del oleato, todos los liquidos ionicos estudiados presentan mejor comportamiento tribologico que el lubricante comercial Polialfaolefina 6. En el contacto acero/zafiro, los nuevos liquidos ionicos proticos son buenos lubricantes cuando se utilizan en estado puro, y, como aditivos en agua, generan peliculas adsorbidas sobre la superficie del metal reduciendo la friccion y el desgaste tras la evaporacion del agua. Para evitar el periodo de alta friccion inicial en presencia de agua, se han generado peliculas superficiales de liquido ionico sobre el acero en condiciones estaticas. El mejor comportamiento lubricante tanto en el contacto cobre/cobre como en el contacto acero/zafiro se obtiene para el liquido ionico protico derivado del anion adipato, con dos grupos carboxilicos. Las interacciones de los grupos

  16. The Role of mDia1 in the Aberrant Innate Immune Signaling in del(5q) Myelodysplastic Syndromes

    DTIC Science & Technology

    2017-10-01

    especially in cells with sensitized innate immune signaling8,9,20. To analyze whether treatment of DAMPs could induce the over-production of pro...AWARD NUMBER: W81XWH-15-1-0335 TITLE: The Role of mDia1 in the Aberrant Innate Immune Signaling in del(5q) Myelodysplastic Syndromes...TITLE AND SUBTITLE 5a. CONTRACT NUMBER WThe Role of mDia1 in the Aberrant Innate Immune Signaling in del(5q) Myelodysplastic Syndromes 5b. GRANT

  17. Role of casein kinase 1A1 in the biology and targeted therapy of del(5q) MDS

    PubMed Central

    Schneider, Rebekka K.; Ademà, Vera; Heckl, Dirk; Järås, Marcus; Mallo, Mar; Lord, Allegra M.; Chu, Lisa P.; McConkey, Marie E.; Kramann, Rafael; Mullally, Ann; Bejar, Rafael; Solé, Francesc; Ebert, Benjamin L.

    2014-01-01

    Summary The Casein kinase 1A1 gene (CSNK1A1) is a putative tumor suppressor gene located in the common deleted region for del(5q) myelodysplastic syndrome (MDS). We generated a murine model with conditional inactivation of Csnk1a1 and found that Csnk1a1 haploinsufficiency induces hematopoietic stem cell expansion and a competitive repopulation advantage whereas homozygous deletion induces hematopoietic stem cell failure. Based on this finding, we found that heterozygous inactivation of Csnk1a1 sensitizes cells to a CSNK1 inhibitor relative to cells with two intact alleles. In addition, we identified recurrent somatic mutations in CSNK1A1 on the non-deleted allele of patients with del(5q) MDS. These studies demonstrate that CSNK1A1 plays a central role in the biology of del(5q) MDS and is a promising therapeutic target. PMID:25242043

  18. The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.

    PubMed

    Lazea, Cecilia; Grigorescu-Sido, Paula; Popp, Radu; Legendre, Marie; Amselem, Serge; Al-Khzouz, Camelia; Bucerzan, Simona; Creţ, Victoria; Crişan, Mirela; Brad, Cristian

    2015-09-01

    To establish the frequency of the c.301_302 delAG mutation of the PROP1 gene in Romanian patients with multiple pituitary hormone deficiency (MPHD). Somatic assessment, hormonal test, bone age, magnetic resonance imaging of the pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 patients with familial form of MPHD and 19 patients with sporadic form of MPHD). The c.301_302delAG mutation was detected in the homozygous state in 10 patients belonging to 5 unrelated families (7 patients with familial history of MPHD and 3 patients with sporadic form of MPHD). Those 10 patients presented variable pituitary hormone deficiency and pituitary morphology. The c.301_302delAG homozygous genotype had a high frequency of 38% (10/26), reaching 100% (7/7) in group with familial cases of MPHD and 16% (3/19) in group with sporadic forms of MPHD.

  19. Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide

    PubMed Central

    2012-01-01

    Background While lenalidomide (LEN) shows high efficacy in myelodysplastic syndromes (MDS) with del[5q], responses can be also seen in patients presenting without del[5q]. We hypothesized that improved detection of chromosomal abnormalities with new karyotyping tools may better predict response to LEN. Design and methods We have studied clinical, molecular and cytogenetic features of 42 patients with MDS, myeloproliferative neoplasms (MPN), MDS/MPN overlap syndromes and secondary acute myeloid leukemia (sAML) without del[5q] by metaphase cytogenetics (MC) who underwent therapy with LEN. Results Fluorescence in situ hybridization (FISH) or single nucleotide polymorphism array (SNP-A)-based karyotyping marginally increased the diagnostic yield over MC, detecting 2/42 (4.8%) additional cases with del[5q], one of whom were responded to LEN. Responses were more often observed in patients with a normal karyotype by MC (60% vs abnormal MC; 17%, p = .08) and those with gain of chromosome 8 material by either of all 3 karyotyping methods (83% vs all other chromosomal abnormalities; 44% p = .11). However, 5 out of those 6 patients received combined LEN/AZA therapy and it may also suggest those with gain of chromosome 8 material respond well to AZA. The addition of FISH or SNP-A did not improve the predictive value of normal cytogenetics by MC. Mutational analysis of TET2, UTX, CBL, EZH2, ASXL1, TP53, RAS, IDH1/2, and DNMT-3A was performed on 21 of 41 patients, and revealed 13 mutations in 11 patients, but did not show any molecular markers of responsiveness to LEN. Conclusions Normal karyotype and gain of chromosome 8 material was predictive of response to LEN in non-del[5q] patients with myeloid malignancies. PMID:22390313

  20. DISYUNTIVAS EN LAS CONCEPCIONES SOBRE AUTONOMÍA Y BENEFICENCIA QUE AFECTAN LA TERAPÉUTICA DEL INTENTO SUICIDA.

    PubMed

    Mondragón, Liliana; Monroy, Zuraya; Ito, Ma Emily; Medina-Mora, Dra Ma Elena

    2010-06-01

    El objetivo del trabajo es conocer las disyuntivas entre los principios de beneficencia y autonomía, que se presentan en la relación médico-paciente, durante la terapéutica del intento de suicidio.La investigación se realizó en dos hospitales psiquiátricos de la Ciudad de México. La muestra incluyó a tres sujetos con intento de suicidio, mayores de 18 años, que eran atendidos en consulta externa a causa de una lesión autoinfligida en el último año, y a tres psiquiatras que trataban a estos pacientes. La información se obtuvo previo consentimiento informado en entrevistas individuales. Se llevó a cabo un análisis de discurso argumentado para encontrar los significados que los participantes otorgaron a los principios bioéticos y las posibles disyuntivas entre éstos.Las discordancias entre la beneficencia y la autonomía estuvieron relacionadas con el beneficio del tratamiento, el respeto por los valores y las creencias de los pacientes, entre otros. Este trabajo presenta consideraciones éticas relevantes en el escenario clínico, al ofrecer al psiquiatra un análisis bioético que le permita actuar de acuerdo con la beneficencia y respetando la autonomía del paciente frente a casos de intento de suicidio y, de esta forma procurar una mejor atención para ellos.

  1. Evaluación de la utilidad diagnóstica de la versión española del cuestionario al informador «AD8»☆

    PubMed Central

    Pardo, C. Carnero; de la Vega Cotarelo, R.; Alcalde, S. López; Aparicio, C. Martos; Carrillo, R. Vílchez; Gavilán, E. Mora; Galvin, J.E.

    2012-01-01

    Introducción El AD8 es un cuestionario al informador breve que puede ser autoaplicado y facilita la identificación de deterioro cognitivo (DC); nuestro objetivo es evaluar la utilidad diagnóstica (UD) de una versión española. Material y métodos Estudio transversal en una muestra clínica de díadas paciente/ informador, 330 sujetos con sospecha de DC o demencia (DEM) y 71 controles. Se ha evaluado la consistencia interna (α de Cronbach) y la validez (correlaciones parciales con estadio GDS, Fototest e índice funcional [IF]). La UD se ha evaluado para no DC vs DC (GDS 3–4) por medio del área bajo la curva ROC (aROC) y se ha considerado mejor punto de corte aquel que hacía máximo el índice de Youden. Resultados En la muestra, 105 no tenían DC, 99 tenían DC sin DEM y 203 DEM. La consistencia interna es alta (α 0,90, IC del 95%, 0,89–0,92), al igual que las correlaciones con GDS (r = 0,72, p < 0,001), Fototest (r = −0,61, p < 0,001) e IF (r = 0,59, p < 0,001). El aROC del AD8 es 0,90 (IC del 95%, 0,86–0,93), sin diferencia significativa con la del Fototest (aROC 0,93, IC del 95%, 0,89–0,96); el mejor punto de corte es 3/4 con sensibilidad de 0,93 (IC del 95%, 0,88–0,96), especificidad de 0,81 (IC del 95%, 0,72–0,88) y el 88,8% de las clasificaciones correctas. El uso conjunto de AD8 y Fototest mejora de forma significativa la UD de ambos (aROC 0,96, IC del 95%, 0,93–0,98, p < 0,05). Conclusiones La versión española del AD8 conserva las cualidades psicométricas y la UD de la versión original; su uso combinado con el Fototest mejora de forma significativa la UD de ambos. PMID:22652137

  2. The Torres del Paine intrusion as a model for a shallow magma chamber

    NASA Astrophysics Data System (ADS)

    Baumgartner, Lukas; Bodner, Robert; Leuthold, Julien; Muntener, Othmar; Putlitz, Benita; Vennemann, Torsten

    2014-05-01

    The shallow magmatic Torres del Paine Intrusive Complex (TPIC) belongs to a series of sub-volcanic and plutonic igneous bodies in Southern Chile and Argentina. This trench-parallel belt is located in a transitional position between the Patagonia Batholith in the West, and the alkaline Cenozoic plateau lavas in the East. While volumetrically small amounts of magmatism started around 28 my ago in the Torres del Paine area, and a second period occurred between 17-16 Ma, it peaked with the TPIC 12.59-12.43 Ma ago. The spectacular cliffs of the Torres del Paine National park provide a unique opportunity to study the evolution of a very shallow magma chamber and the interaction with its host rocks. Intrusion depth can be estimated based on contact metamorphic assemblages and granite solidus thermobarometry to 750±250 bars, corresponding to an intrusion depth of ca. 3km, ca. 500m above the base of the intrusion. Hornblende thermobarometry in mafic rocks agrees well with these estimates (Leuthold et al., 2014). The TPIC is composed of a granitic laccolith emplaced over 90ka (Michel et al., 2008) in 3 major, several 100m thick sheets, forming an overall thickness of nearly 2 km. Contacts are sharp between sheets, with the oldest sheet on the top and the youngest on the bottom (Michel et al., 2008). The granitic laccolith is under-plated by a ca. 400m thick mafic laccolith, built up over ca. 50ka (Leuthold et al. 2012), constructed from the bottom up. Granitic and mafic sheets are themselves composed of multiple metric to decametric pulses, mostly with ductile contacts between them, resulting in outcrop patterns resembling braided stream sediments. The contact of the TPIC with the Cretaceous flysch sediments document intrusion mechanism. Pre-existing sub-horizontal fold axes are rotated in the roof of the TPIC, clearly demonstrating ballooning of the roof; no ballooning was observed in the footwall of the intrusion. Extension during ballooning of the roof is indicated by

  3. Ticks threatening lineage of Anatolian wild sheep (Ovis gmelinii anatolica) and determination of their tick-borne pathogens.

    PubMed

    Orkun, Ömer; Emir, Hasan; Karaer, Zafer

    2016-09-15

    We aimed to determine the ticks of the Anatolian wild sheep and to define their tick-borne pathogens while molecularly studying their relationships with those of the domestic sheep. Furthermore, another aim of this study is to investigate tick paralysis resulting in the death of the Anatolian wild sheep. Ticks and blood samples were collected from the wild sheep whilst tick samples were also collected from hares, guinea fowls, chickens, and a turkey living in the Anatolian wild sheep breeding area. While PCR amplification was carried out for the detection of Babesia spp., Theileria spp. and Anaplasma spp. in blood samples, CCHF virus was screened in the tick samples in addition to the above-mentioned pathogens. Theileria spp. was detected in blood samples of 45 wild sheep. A total of 3494 ticks were collected from 52 Anatolian wild sheep, 5 hares, 5 guinea fowls, 2 chickens, and 1 turkey whereas 98 ticks were collected from the ground. B. ovis and T. ovis were detected in tick pools (Rh. bursa and H. excavatum) that were collected from the wild sheep. The paralysis was diagnosed in both of the hind legs of the newborn lambs infested with a great number of ticks. We also report that the tick species (H. excavatum and Rh. bursa) are determined to cause tick paralysis and tick toxicosis, which are associated with mortality especially in lambs. T. ovis and B. ovis were detected and studied for the first time in Anatolian wild sheep and in their ticks. The results of phylogenetic analyses showed that T. ovis and B. ovis isolates are genetically very close to the isolates that were previously obtained from the domestic small ruminants. We show that the Anatolian wild sheep can play the role of a reservoir for T. ovis. The presence of the CCHF virus has also been clearly shown and it has been observed that this virus, which is very pathogenic for humans, is anywise circulating in the region. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Aquifer-storage change in the lower Canada del Oro Subbasin, Pima County, Arizona, 1996-98

    USGS Publications Warehouse

    Pool, D.R.

    1999-01-01

    Aquifer storage was monitored using gravity methods in the Lower Canada del Oro subbasin from 1996 through 1998 to determine areas of infiltration and amounts of recharge along the Canada del Oro Wash after major surface flow and to estimate aquifer-storage change and specific-yield values for the regional aquifer.  Both purposes were addressed by periodic monitoring of changes in aquifer storage and water levels at a network of gravity stations and monitor wells.  Water levels and gravity were also monitored near an active withdrawal well for several months for the purpose of estimating specific yield of the aquifer within the cone of water-leel depression at the well.

  5. Ceratopetalum (Cunoniaceae) fruits of Australasian affinity from the early Eocene Laguna del Hunco flora, Patagonia, Argentina.

    PubMed

    Gandolfo, María A; Hermsen, Elizabeth J

    2017-03-01

    Radially symmetrical, five-winged fossil fruits from the highly diverse early Eocene Laguna del Hunco flora of Chubut Province, Patagonia, Argentina, are named, described and illustrated. The main goals are to assess the affinities of the fossils and to place them in an evolutionary, palaeoecological and biogeographic context. Specimens of fossil fruits were collected from the Tufolitas Laguna del Hunco. They were prepared, photographed and compared with similar extant and fossil fruits using published literature. Their structure was also evaluated by comparing them with that of modern Ceratopetalum (Cunoniaceae) fruits through examination of herbarium specimens. The Laguna del Hunco fossil fruits share the diagnostic features that characterize modern and fossil Ceratopetalum (symmetry, number of fruit wings, presence of a conspicuous floral nectary and overall venation pattern). The pattern of the minor wing (sepal) veins observed in the Patagonian fossil fruits is different from that of modern and previously described fossil Ceratopetalum fruits; therefore, a new fossil species is recognized. An apomorphy (absence of petals) suggests that the fossils belong within crown-group Ceratopetalum . The Patagonian fossil fruits are the oldest known record for Ceratopetalum . Because the affinities, provenance and age of the fossils are so well established, this new Ceratopetalum fossil species is an excellent candidate for use as a calibration point in divergence dating studies of the family Cunoniaceae. It represents the only record of Ceratopetalum outside Australasia, and further corroborates the biogeographic connection between the Laguna del Hunco flora and ancient and modern floras of the Australasian region. © The Author 2017. Published by Oxford University Press on behalf of the Annals of Botany Company.

  6. PREVENCIÓN DEL VIH/SIDA EN LOS CIRCUITOS DE LEVANTE HSH: UNA ASIGNATURA PENDIENTE.

    PubMed

    Barreda, Victoria; Carballo-Dieguez, Alex; Marone, Rubén; Balán, Iván; Pando, María Ángeles; Avila, María Mercedes

    2010-12-01

    A partir de un relevamiento de tipo etnográfico, se describen lugares de encuentro de HSH en la Ciudad de Buenos Aires y sus prácticas sexuales. El reconocimiento de tales espacios, así como las características que asumen en ellos los encuentros sexuales entre los HSH, plantean obstáculos específicos en la adopción de comportamientos preventivos y, asimismo, generan nuevos desafíos para las actividades de prevención. Se plantean las dificultades y debates conceptuales que la misma categoría presenta, y sus consecuencias en el abordaje preventivo y teórico-metodológico para las ciencias sociales. Además, se proponen nuevos interrogantes acerca de los alcances y las limitaciones del modelo preventivo del VIH/Sida para HSH.

  7. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.

    PubMed

    Dursun, Ali; Ozgul, R Koksal; Soydas, Asli; Tugrul, Tugba; Gurgey, Aytemiz; Celiker, Alpay; Barst, Robyn J; Knowles, James A; Mahesh, Mansukhani; Morse, Jane H

    2009-01-01

    We present two siblings with identical clinical findings that seem to represent a previously unreported familial syndrome. Major findings involve three systems: pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, and the hematopoietic system with intermittent neutropenia, lymphopenia, monocytosis, and anemia. The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. The male proband also had bilateral inguinal hernias and undescended testes. The same findings in two siblings suggest a genetic cause--either an autosomal recessive disorder or germline mosaicism in one parent for a dominant mutation. Investigations revealed a bone morphogenetic protein receptor 2 polymorphism in intron 4 in only one sibling, which was also present in unaffected maternal relatives.

  8. El contexto de la familia y el vecindario en la salud de los ancianos del estudio EPESE hispano

    PubMed Central

    Reyes-Ortiz, Carlos A.; Camacho, María E.; Eschbach, Karl; Markides, Kyriakos S.

    2014-01-01

    RESUMEN En este artículo se discute el papel de la familia y el vecindario en la salud de los ancianos méjico-americanos del estudio EPESE (Established Populations for Epidemiologic Studies of the Elderly) hispano. La paradoja epidemiológica consiste en que, a pesar de estar en desventaja socioeconómica, los ancianos hispanos tienen mortalidad relativamente menor que los ancianos de raza blanca. Esto es especialmente cierto cuando el anciano vive en los vecindarios donde hay un porcentaje alto de méjico-americanos. La familia también juega un papel importante en estos ancianos al disminuir el riesgo de institucionalización o de morbilidad. Asimismo, el estrés originado en problemas económicos o al depender económicamente de la familia, habiendo inmigrado en edades tardías, puede sobrepasar la capacidad de amortiguamiento del estrés y afectar la salud del anciano méjico-americano. PMID:25190897

  9. Study of InDel genetic markers with forensic and ancestry informative interest in PALOP's immigrant populations in Lisboa.

    PubMed

    Inácio, Ana; Costa, Heloísa Afonso; da Silva, Cláudia Vieira; Ribeiro, Teresa; Porto, Maria João; Santos, Jorge Costa; Igrejas, Gilberto; Amorim, António

    2017-05-01

    The migratory phenomenon in Portugal has become one of the main factors for the genetic variability. In the last few years, a new class of autosomal insertion/deletion markers-InDel-has attracted interest in forensic genetics. Since there is no data for InDel markers of Portuguese-speaking African countries (PALOP) immigrants living in Lisboa, our aim is the characterization of those groups of individuals by typing them with at least 30 InDel markers and to compare different groups of individuals/populations. We studied 454 bloodstain samples belonging to immigrant individuals from Angola, Guinea-Bissau, and Mozambique. DNA extraction was performed with the Chelex® 100 method. After extraction, all samples were typed with the Investigator® DIPplex method. Through the obtained results, allelic frequencies show that all markers are at Hardy-Weinberg equilibrium, and we can confirm that those populations show significant genetic distances between themselves, between them, and the host Lisboa population. Because of this, they introduce genetic variability in Lisboa population.

  10. Population Differentiations and Phylogenetic Analysis of Tibet and Qinghai Tibetan Groups Based on 30 InDel Loci.

    PubMed

    Guo, Yuxin; Shen, Chunmei; Meng, Haotian; Dong, Qian; Kong, Tingting; Yang, Chunhua; Wang, Hongdan; Jin, Rui; Zhu, Bofeng

    2016-12-01

    In recent years, Insertion/Deletion (InDel) polymorphisms have become a hot area of forensic research. In this study, 30 InDel loci were selected to investigate the genetic polymorphisms of Tibetan groups, which are from Tibet Autonomous Region and Qinghai province of China, and explore the genetic relationships between Tibetan groups and other groups. Allele frequencies of the 30 InDel loci ranged from 0.1219 (HLD111) to 0.5609 (HLD57) in the Tibet Tibetan group and 0.1639 (HLD118) to 0.5655 (HLD124) in the Qinghai Tibetan group. The combined power of discrimination, matching probability, and power of exclusion were 0.999999999986, 0.999999988, and 0.9913 in the Tibet Tibetan group, respectively, and 0.99999999999204, 0.9999999796, and 0.9862 in the Qinghai Tibetan group. The results of principal component analysis, phylogenetic tree, and population structure demonstrated that the four Tibetan groups (Tibetan1, Tibetan2, Tibet, and Qinghai Tibetan groups) clustered together and had relatively close genetic relationships with nine Asian groups and then European and Amerindian groups.

  11. Overview of the genus Briareum (Cnidaria, Octocorallia, Briareidae) in the Indo-Pacific, with the description of a new species

    PubMed Central

    Samimi-Namin, Kaveh; van Ofwegen, Leen P.

    2016-01-01

    Abstract The status of Indo-Pacific Briareum species (Cnidaria, Octocorallia, Briareidae) is reviewed by presenting their sclerite features and habitus descriptions. Following the re-examination of type material, museum specimens and newly collected specimens, a species identification key is provided. The species distributions are discussed and updated distribution ranges are depicted. Moreover, a new taxon, Briareum cylindrum sp. n. is described and depicted, whereas Briareum excavatum (Nutting, 1911) is synonymised with Briareum stechei (Kükenthal, 1908). Briareum hamrum (Gohar, 1948) is recorded from the Persian Gulf and Oman Sea for the first time. Consequently, in total four Briareum species are recognized in the Indo-Pacific; Briareum hamrum from the western Indian Ocean, and Briareum cylindrum sp. n., Briareum stechei, and Briareum violaceum from the central and eastern Indo-Pacific region. PMID:26877697

  12. Overview of the genus Briareum (Cnidaria, Octocorallia, Briareidae) in the Indo-Pacific, with the description of a new species.

    PubMed

    Samimi-Namin, Kaveh; van Ofwegen, Leen P

    2016-01-01

    The status of Indo-Pacific Briareum species (Cnidaria, Octocorallia, Briareidae) is reviewed by presenting their sclerite features and habitus descriptions. Following the re-examination of type material, museum specimens and newly collected specimens, a species identification key is provided. The species distributions are discussed and updated distribution ranges are depicted. Moreover, a new taxon, Briareum cylindrum sp. n. is described and depicted, whereas Briareum excavatum (Nutting, 1911) is synonymised with Briareum stechei (Kükenthal, 1908). Briareum hamrum (Gohar, 1948) is recorded from the Persian Gulf and Oman Sea for the first time. Consequently, in total four Briareum species are recognized in the Indo-Pacific; Briareum hamrum from the western Indian Ocean, and Briareum cylindrum sp. n., Briareum stechei, and Briareum violaceum from the central and eastern Indo-Pacific region.

  13. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

    PubMed

    Varon, R; Seemanova, E; Chrzanowska, K; Hnateyko, O; Piekutowska-Abramczuk, D; Krajewska-Walasek, M; Sykut-Cegielska, J; Sperling, K; Reis, A

    2000-11-01

    Nijmegen breakage syndrome (NBS) is a chromosomal instability disorder, clinically characterised by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to lymphoid malignancy. Recently, it was demonstrated that mutations in the NBS1 gene are responsible for NBS. Most of the NBS patients known so far are of Slav origin and carry a major founder mutation 657del5 in exon 6 of the NBS1 gene. In this study we estimated the prevalence of the 657del5 mutation in the Czech Republic, Poland and the Ukraine. We found an unexpectedly high carrier frequency of the 657del5 mutation (1/177) in the three Slav populations, a factor that may contribute to cancer frequency in those countries. In addition, we show that NBS patients are often diagnosed late and therefore receive inappropriate therapy.

  14. Soilscapes in the dynamic tropical environments: The case of Sierra Madre del Sur

    NASA Astrophysics Data System (ADS)

    Krasilnikov, P. V.; García-Calderón, N. E.; Ibáñez-Huerta, A.; Bazán-Mateos, M.; Hernández-Santana, J. R.

    2011-12-01

    The paper gives an analysis of the pattern of soil cover of the Sierra Madre del Sur, one of the most complex physiographic regions of Mexico. It presents the results of the study of four latitudinal traverses across the region. We show that the distribution of soils in the Sierra Madre del Sur is associated with major climatic gradients, namely by vertical bioclimatic zonality in the mountains and by the effect of mountain shadow. Altitudinal distribution of soil-bioclimatic belts is complex due to non-uniform gradients of temperature and rainfall, and varies with the configuration of the mountain range. The distribution of soils is associated with the erosion and accumulation rates both on mountain slopes and in river valleys. The abundance of poorly developed soils in (semi)arid areas was ascribed to high erosion rate rather than to low pedogenetic potential. The formation of soil mosaic at a larger scale might be ascribed to the complex net of gully erosion and to the system of seismically triggered landslides of various ages. In the valleys, the distribution of soils depends upon the dynamics of sedimentation and erosion, which eventually exposes paleosols. Red-colored clayey sediments are remains of ancient weathering and pedogenesis. Their distribution is associated mainly with the intensity of recent slope processes. The soil cover pattern of the Sierra Madre del Sur cannot be explained by simplified schemes of bioclimatic zonality. The soil ranges can be explained by the distribution of climates, lithology, complex geological history of the region, and recent geomorphological processes.

  15. Oxygen isotope evidence for submarine hydrothermal alteration of the Del Puerto ophiolite, California

    USGS Publications Warehouse

    Schiffman, P.; Williams, A.E.; Evarts, R.C.

    1984-01-01

    The oxygen isotope compositions and metamorphic mineral assemblages of hydrothermally altered rocks from the Del Puerto ophiolite and overlying volcaniclastic sedimentary rocks at the base of the Great Valley sequence indicate that their alteration occurred in a submarine hydrothermal system. Whole rock ??18O compositions decrease progressively down section (with increasing metamorphic grade): +22.4??? (SMOW) to +13.8 for zeolite-bearing volcaniclastic sedimentary rocks overlying the ophiolite; +19.6 to +11.6 for pumpellyite-bearing metavolcanic rocks in the upper part of the ophiolite's volcanic member; +12.3 to +8.1 for epidote-bearing metavolcanic rocks in the lower part of the volcanic member; +8.5 to +5.7 for greenschist facies rocks from the ophiolite's plutonic member; +7.6 to +5.8 for amphibolite facies or unmetamorphosed rocks from the plutonic member. Modelling of fluid-rock interaction in the Del Puerto ophiolite indicates that the observed pattern of upward enrichment in whole rock ??18O can be best explained by isotopic exchange with discharging 18O-shifted seawater at fluid/rock mass ratios near 2 and temperatures below 500??C. 18O-depleted plutonic rocks necessarily produced during hydrothermal circulation were later removed as a result of tectonism. Submarine weathering and later burial metamorphism at the base of the Great Valley sequence cannot by itself have produced the zonation of hydrothermal minerals and the corresponding variations in oxygen isotope compositions. The pervasive zeolite and prehnite-pumpellyite facies mineral assemblages found in the Del Puerto ophiolite may reflect its origin near an island arc rather than deep ocean spreading center. ?? 1984.

  16. 2. COURSE OF THE LATERAL THROUGH DEL NORTHWEST MAR PARK. ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    2. COURSE OF THE LATERAL THROUGH DEL NORTHWEST MAR PARK. - Highline Canal, Sand Creek Lateral, Beginning at intersection of Peoria Street & Highline Canal in Arapahoe County (City of Aurora), Sand Creek lateral Extends 15 miles Northerly through Araphoe County, City & County of Denver, & Adams County to its end point, approximately 1/4 mile Southest of intersectioin of D Street & Ninth Avenue in Adams County (Rocky Mountain Arsenal, Commerce City Vicinity), Commerce City, Adams County, CO

  17. Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

    PubMed

    Chao de la Barca, Juan Manuel; Simard, Gilles; Sarzi, Emmanuelle; Chaumette, Tanguy; Rousseau, Guillaume; Chupin, Stéphanie; Gadras, Cédric; Tessier, Lydie; Ferré, Marc; Chevrollier, Arnaud; Desquiret-Dumas, Valérie; Gueguen, Naïg; Leruez, Stéphanie; Verny, Christophe; Miléa, Dan; Bonneau, Dominique; Amati-Bonneau, Patrizia; Procaccio, Vincent; Hamel, Christian; Lenaers, Guy; Reynier, Pascal; Prunier-Mirebeau, Delphine

    2017-02-01

    Dominant optic atrophy (MIM No. 165500) is a blinding condition related to mutations in OPA1, a gene encoding a large GTPase involved in mitochondrial inner membrane dynamics. Although several mouse models mimicking the disease have been developed, the pathophysiological mechanisms responsible for retinal ganglion cell degeneration remain poorly understood. Using a targeted metabolomic approach, we measured the concentrations of 188 metabolites in nine tissues, that is, brain, three types of skeletal muscle, heart, liver, retina, optic nerve, and plasma in symptomatic 11-month-old Opa1delTTAG/+ mice. Significant metabolic signatures were found only in the optic nerve and plasma of female mice. The optic nerve signature was characterized by altered concentrations of phospholipids, amino acids, acylcarnitines, and carnosine, whereas the plasma signature showed decreased concentrations of amino acids and sarcosine associated with increased concentrations of several phospholipids. In contrast, the investigation of 3-month-old presymptomatic Opa1delTTAG/+ mice showed no specific plasma signature but revealed a significant optic nerve signature in both sexes, although with a sex effect. The Opa1delTTAG/+ versus wild-type optic nerve signature was characterized by the decreased concentrations of 10 sphingomyelins and 10 lysophosphatidylcholines, suggestive of myelin sheath alteration, and by alteration in the concentrations of metabolites involved in neuroprotection, such as dimethylarginine, carnitine, spermine, spermidine, carnosine, and glutamate, suggesting a concomitant axonal metabolic dysfunction. Our comprehensive metabolomic investigations revealed in symptomatic as well as in presymptomatic Opa1delTTAG/+ mice, a specific sensitiveness of the optic nerve to Opa1 insufficiency, opening new routes for protective therapeutic strategies.

  18. Cámara CCD Directa con el Telescopio de 2.15 m del CASLEO: algunos diagnósticos

    NASA Astrophysics Data System (ADS)

    Cellone, S. A.

    Se efectuaron algunas pruebas con la cámara CCD (+ Reductor Focal) instalada en el foco Cassegrain del Telescopio de 2.15 m del Complejo Astronómico El Leoncito (CASLEO). Las conclusiones más significativas son: Los tiempos de exposición efectivos difieren de los nominales en una fracción apreciable de segundo. En exposiciones de menos de 3 segundos, la iluminación no es pareja en todo el detector. En consecuencia, se recomiendan los pasos a seguir por los astrónomos tanto durante la observación como en la reducción de sus datos.

  19. Seven new species of Loneura Navás (Insecta: Psocodea: 'Psocoptera': Ptiloneuridae) from Valle del Cauca, Colombia.

    PubMed

    Nieto, Julián Alexander Mendivil; Aldrete, Alfonso Neri García; Obando, Ranulfo González

    2017-02-06

    Seven species of Loneura from natural areas of Valle del Cauca, Colombia, are described and illustrated. The female of L. andina is described for the first time. Two additional species, known only from the National Natural Park Gorgona (Cauca), are also recorded in Valle del Cauca. The new species are assigned to the infrageneric groups known in the genus. An identification key to males of Loneura is included.

  20. DISYUNTIVAS EN LAS CONCEPCIONES SOBRE AUTONOMÍA Y BENEFICENCIA QUE AFECTAN LA TERAPÉUTICA DEL INTENTO SUICIDA1

    PubMed Central

    Mondragón, Liliana; Monroy, Zuraya; Ito, Ma. Emily; Medina-Mora, Dra. Ma. Elena

    2010-01-01

    El objetivo del trabajo es conocer las disyuntivas entre los principios de beneficencia y autonomía, que se presentan en la relación médico-paciente, durante la terapéutica del intento de suicidio. La investigación se realizó en dos hospitales psiquiátricos de la Ciudad de México. La muestra incluyó a tres sujetos con intento de suicidio, mayores de 18 años, que eran atendidos en consulta externa a causa de una lesión autoinfligida en el último año, y a tres psiquiatras que trataban a estos pacientes. La información se obtuvo previo consentimiento informado en entrevistas individuales. Se llevó a cabo un análisis de discurso argumentado para encontrar los significados que los participantes otorgaron a los principios bioéticos y las posibles disyuntivas entre éstos. Las discordancias entre la beneficencia y la autonomía estuvieron relacionadas con el beneficio del tratamiento, el respeto por los valores y las creencias de los pacientes, entre otros. Este trabajo presenta consideraciones éticas relevantes en el escenario clínico, al ofrecer al psiquiatra un análisis bioético que le permita actuar de acuerdo con la beneficencia y respetando la autonomía del paciente frente a casos de intento de suicidio y, de esta forma procurar una mejor atención para ellos. PMID:20830214