Sample records for microtia-anotia maternidad del

  1. Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities - a population-based case-control study.

    PubMed

    Paput, László; Bánhidy, Ferenc; Czeizel, Andrew E

    2011-09-01

    To describe the maternal characteristics and birth outcomes of newborn infants affected with isolated ear congenital abnormalities (IECA), mainly isolated anotia/microtia and unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM). Cases with IECA and UMAM were compared with their matched controls and all controls without any defect and malformed controls affected with other defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The mothers of 354 cases with IECA did not show significant difference in age, but their mean birth order was higher while their socio-economic status based on the maternal employment status was lower compared to the figures of their matched controls. There was a male excess among cases with microtia and mainly with UMAM. The evaluation of birth outcomes of newborns affected with IECA indicated intrauterine fetal growth retardation. Newborn infants with isolated microtia had intrauterine growth retardation and the association of this developmental defect localized for a small region of head with the general fetal development raises interesting theoretical question.

  2. Public Perception of the Burden of Microtia.

    PubMed

    Byun, Stephanie; Hong, Paul; Bezuhly, Michael

    2016-10-01

    Microtia is associated with psychosocial burden and stigma. The authors' objective was to determine the potential impact of being born with microtia by using validated health state utility assessment measures. An online utility assessment using visual analogue scale, time tradeoff, and standard gamble was used to determine utilities for microtia with or without ipsilateral deafness, monocular blindness, and binocular blindness from a prospective sample of the general population. Utility scores were compared between health states using Wilcoxon and Kruskal-Wallis tests. Univariate regression was performed using sex, age, race, and education as independent predictors of utility scores. Over a 6-month enrollment period, 104 participants were included in the analysis. Visual analogue scale (median 0.80, interquartile range [0.72-0.85]), time tradeoff (0.88 [0.77-0.91]), and standard gamble (0.91 [0.84-0.97]) scores for microtia with ipsilateral deafness were higher (P <0.01) than those of binocular blindness (visual analogue scale, 0.30 [0.20-0.45]; time tradeoff, 0.42 [0.17-0.67]; and standard gamble, 0.52 [0.36-0.78]). Time trade-off scores for microtia with deafness were not different from monocular blindness (0.83 [0.67-0.91]). Higher level of education was associated with higher time tradeoff and standard gamble scores for microtia with or without deafness (P <0.05). Using objective health state utility scores, the current study demonstrates that the perceived burden of microtia with or without deafness is no different or less than monocular blindness. Given high utility scores for microtia, delaying autologous reconstruction beyond school entrance age may be justified.

  3. [Microtia-atresia: clinical, genetic and genomic aspects].

    PubMed

    Aguinaga-Ríos, Mónica; Frías, Sara; Arenas-Aranda, Diego J; Morán-Barroso, Verónica Fabiola

    Mexico has a prevalence of microtia of 7.37/10,000 (newborns), 3 times higher than the prevalence reported in other populations (USA 2-3/10,000). Microtia is defined as a congenital malformation of the external ear characterized by a small auricular lobe with an abnormal shape. It is more often unilateral and on the right side. Males are more frequently affected than females. It can occur as an isolated defect or can be associated with other abnormalities such as stenosis of the external auditory canal. In three of the main pediatric hospitals in Mexico, microtia is among the most important causes of attendance in the Genetics Department. Microtia-atresia must be considered as a major malformation with important repercussions in hearing function requiring multidisciplinary medical care in order to limit the disability associated and to provide genetic counseling. Its etiology is complex. Only in a minor number of cases it has been possible to identify a main genetic component (as in monogenic presentations) or a main environmental cause (as in fetal alcohol syndrome or pregestational diabetes). In most cases this malformation is multifactorial. Due to the relevance that the frequency of microtia atresia has in different health services in Mexico, it is important that all medical professionals are aware of its clinical, molecular and inherited characteristics. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  4. Cost analysis of microtia treatment in the Netherlands.

    PubMed

    Kolodzynski, M N; van Hövell Tot Westerflier, C V A; Kon, M; Breugem, C C

    2017-09-01

    Ear reconstruction for microtia is a challenging procedure. Although analyzing esthetic outcome is crucial, there is a paucity of information with regard to financial aspects of microtia reconstruction. This study was conducted to analyze the costs associated with ear reconstruction with costal cartilage in patients with microtia. Ten consecutive children with autologous ear reconstruction of a unilateral microtia were included in this analysis. All patients had completed their treatment protocol for ear reconstruction. Direct costs (admission to hospital, diagnostics, and surgery) and indirect cost (travel expenses and absence from work) were obtained retrospectively. The overall mean cumulative cost per patient was €14,753. Direct and indirect costs were €13,907 and €846, respectively. Hospital admission and surgery cover 55% and 32% of all the costs, respectively. This study analyzes the costs for autologous ear reconstruction. Hospital admission and surgery are the most important factors of the total costs. Total costs could be decreased by possibly decreasing admission days and surgical time. These data can be used for choosing and developing future treatment strategies. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  5. Microtia and Social Media: Patient Versus Physician Perspective of Quality of Information.

    PubMed

    Sepehripour, Sarvnaz; McDermott, Ann Louise; Lloyd, Mark Sheldon

    2017-05-01

    Previous research demonstrates that patients seek high-quality information on the World Wide Web, especially in rare conditions such as microtia. Social media has overtaken other sources of patient information but quality remains untested. This study quantifies the quality of information for patients with Microtia on social media compared with nonsocial media websites and compares physician and patient scoring on quality using the DISCERN tool. In phase 1, quality of the top 100 websites featuring information "Microtia" was ranked according to quality score and position on Google showing the position of social media websites among other nonsocial media websites. Phase 2 involved independent scoring of websites on microtia compared with a patient group with microtia to test whether physicians score differently to patients with t test comparison. Social media websites account for 2% of the scored websites with health providers linking to social media. Social media websites were among the highest ranked on Google. No correlation was found between the quality of information and Google rank. Social media scored higher than nonsocial media websites regarding quality of information on microtia. No significant difference existed between physician and patient quality of information scores on social media and nonsocial media websites (p 1.033). Physicians and patients objectively score microtia websites alike. Social media websites have higher use despite being few in number compared with nonsocial media websites. Physicians providing links to social media on information websites on rare conditions such as microtia are engaging in current information-seeking trends.

  6. Does microtia predict severity of temporal bone CT abnormalities in children with persistent conductive hearing loss?

    PubMed

    Tekes, Aylin; Ishman, Stacey L; Baugher, Katherine M; Brown, David J; Lin, Sandra Y; Tunkel, David E; Unalp-Arida, Aynur; Huisman, Thierry A G M

    2013-07-01

    This study aimed to determine the spectrum of temporal bone computed tomography (CT) abnormalities in children with conductive hearing loss (CHL) with and without microtia. From 1993 to 2008, a total of 3396 pediatric records including CHL were reviewed at our institution and revealed 180 cases of persistent CHL, 46 of whom had diagnostic temporal bone CT examinations. All of these examinations were systematically reviewed by two pediatric neuroradiologists, working in consensus, who had 5 and 18 years, respectively, of dedicated pediatric neuroradiology experience. Of the 46 children, 16 were boys and 30 were girls (age: 0.2-16 years; mean: 5 years). Also, 21 (46%) children had microtia and 25 (54%) children did not, as determined by clinical evaluation. External auditory canal atresia/stenosis (EAC-A/S) was the most common anomaly in both microtia and non-microtia groups. Two or more anomalies were observed in 18/21 children with microtia. The frequency of EAC-A/S was greater in children with microtia versus those without it (86% versus 32%, respectively; P = 0.0003). Syndromic diagnoses were also significantly more frequently made in children with microtia versus those without microtia (76% versus 20%, respectively; P = 0.0001). Temporal bone CT scans were normal in 10 children (22%) with persistent CHL. Microtia is an important finding in children with CHL. EAC and middle ear/ossicle anomalies were significantly more frequently seen in children with microtia, and multiple anomalies and bilateral microtia were more common in children with syndromic associations. These findings highlight the importance of understanding the embryological development of the temporal bone. The presence of one anomaly should raise suspicion of the possibility of other anomalies, especially in the setting of microtia. Bilateral microtia and multiple anomalies should also raise suspicion of genetic syndromes. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  7. Autologous microtia reconstruction combined with ancillary procedures: a comprehensive reconstructive approach.

    PubMed

    Cugno, S; Farhadieh, R D; Bulstrode, N W

    2013-11-01

    Autologous microtia reconstruction is generally performed in two stages. The second stage presents a unique opportunity to carry out other complementary procedures. The present study describes our approach to microtia reconstruction, wherein the second stage of reconstruction is combined with final refinements to the ear construct and/or additional procedures to enhance facial contour and symmetry. Retrospective analysis of patients who underwent two-stage microtia reconstruction by a single surgeon (NWB) was conducted in order to ascertain those that had ancillary procedures at the time of the second stage. Patient and operative details were collected. Thirty-four patients (male, 15, median age and age range at second stage, 11 and 10-18 years, respectively) who had complementary procedures executed during the second stage of auricular reconstruction were identified. Collectively, these included centralizing genioplasty (n = 1), fat transfer (n = 22), ear piercing (n = 7), and contralateral prominauris correction (n = 7). Six patients had correction for unilateral isolated microtia and in the remaining 28 patients, auricular reconstruction for microtia associated with a named syndrome. All patients reported a high rate of satisfaction with the result achieved and the majority (85%) reported no perceived need for additional surgical refinements to the ear or procedure(s) to achieve further facial symmetry. No peri- or post-operative complications were noted. Combining the final stage of autologous microtia reconstruction with other ancillary procedures affords a superior aesthetic outcome and decreased patient morbidity. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. All rights reserved.

  8. [Polymorphism analysis of MTHFR,BMPR1B and TYMS in microtia].

    PubMed

    Liu, N; Liu, Y F; Sui, J; Zhang, Y Q; Ma, S M; Wu, W J; Liang, G; Tan, Q

    2017-03-20

    Objective: To explore the relationship between MTHFR,BMPR1B and TYMS polymorphism and congenitial microtia in Chinese Han population. Method: A total of 180 microtia patients and 141 healthy participants were enrolled in this study.The genotyping of MTHFR rs4846049, BMPR1B rs1434536 and TYMS rs2790 of the participants were examined with multiple PCR. Frequencies and allele distribution of MTHFR rs4846049,BMPR1B rs1434536 and TYMS rs2790 between cases and control were analyzed with Chi-square test. Result: The genotype frequency distribution of TYMS rs27901 polymorphism was significantly different between two groups( P <0.05).Furthermore, gender stratified analysis showed that TYMS rs2790 polymorphism mainly increase the risks of congenitial microtia in male( P <0.05).Compared with AA genotype,the mircotia risks of subjects with AG GG AG+GG raised to 1.93, 3.23 and 2.10 times,respectively(95% CI :1.07-3.48、1.12-9.33 and 1.20-3.68).However,there was no relationship between MTHFR rs4846049, BMPR1B rs1434536 and microtia. Conclusion: The TYMS rs2790 polymorphism may be a risk factor of microtia in male. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

  9. HEAR MAPS a classification for congenital microtia/atresia based on the evaluation of 742 patients.

    PubMed

    Roberson, Joseph B; Goldsztein, Hernan; Balaker, Ashley; Schendel, Stephen A; Reinisch, John F

    2013-09-01

    Describe anatomical and radiological findings in 742 patients evaluated for congenital aural atresia and microtia by a multidisciplinary team. Develop a new classification method to enhance multidisciplinary communication regarding patients with congenital aural atresia and microtia. Retrospective chart review with descriptive analysis of findings arising from the evaluation of patients with congenital atresia and microtia between January 2008 and January 2012 at a multidisciplinary tertiary referral center. We developed a classification method based on the acronym HEAR MAPS (Hearing, Ear [microtia], Atresia grade, Remnant earlobe, Mandible development, Asymmetry of soft tissue, Paralysis of the facial nerve and Syndromes). We used this method to evaluate 742 consecutive congenital atresia and microtia patients between 2008 and January of 2012. Grade 3 microtia was the most common external ear malformation (76%). Pre-operative Jahrsdoerfer scale was 9 (19%), 8 (39%), 7 (19%), and 6 or less (22%). Twenty three percent of patients had varying degrees of hypoplasia of the mandible. Less than 10% of patients had an identified associated syndrome. Patients with congenital aural atresia and microtia often require the intervention of audiology, otology, plastic surgery, craniofacial surgery and speech and language professionals to achieve optimal functional and esthetic reconstruction. Good communication between these disciplines is essential for coordination of care. We describe our use of a new classification method that efficiently describes the physical and radiologic findings in microtia/atresia patients to improve communication amongst care providers. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  10. Early experience in microtia reconstruction: the first 100 cases.

    PubMed

    Sabbagh, Walid

    2011-04-01

    Auricular reconstruction in Microtia is a challenging operation with a steep learning curve. In view its rarity attaining a high standard for new surgeons is extremely difficult. This study analyses the first 100 microtia cases looking at complications, technique, pattern of progress and aesthetic outcome. The author performed 100 autologous ear reconstructions for microtia over a period of 4 years utilizing the two stage technique popularised by Nagata and Firmin. In 11 cases a temroparietal fascial flap was utilised because of either a low hairline or scarring. Follow up ranged from 3 to 36 months. Data was collected prospectively. There were 7 cases of partial skin necrosis, 3 of which healed with conservative management. In early cases deficiencies were seen in the proportions of the reconstructed ear and the quality of definition. Better shape and definition were evident as more surgical experience was gained. This occurred as a result of increased appreciation of the ear proportions and improved framework carving. Although two stages were planned 21 cases required further procedures. The series demonstrates the early learning curve in microtia reconstruction and underlines the importance of appropriate training and case availability in achieving high quality results in autologous ear reconstruction. Copyright © 2010 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  11. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    PubMed

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  12. Vasoactive exposures during pregnancy and risk of microtia.

    PubMed

    Van Bennekom, Carla M; Mitchell, Allen A; Moore, Cynthia A; Werler, Martha M

    2013-01-01

    Little is known about the etiology of nonsyndromic microtia. This study investigated the hypothesis that microtia is caused by vascular disruption. The study analyzed data from the population-based National Birth Defects Prevention Study (NBDPS) for deliveries between 1997 and 2005. Four hundred eleven nonsyndromic cases of microtia, with or without additional defects, were compared to 6560 nonmalformed infants with respect to maternal exposures to vasoactive medications and smoking during the periconceptional period and conditions that have previously been associated with vascular events (multiple gestation, maternal history of type 1, type 2, or gestational diabetes, and hypertension). Odds ratios (ORs) were estimated with multivariable models, controlling for the effects of race/ethnicity, education, periconceptional folic acid use, and study center. Risk estimates for vasoactive medications and smoking were not meaningfully increased. Maternal type 1/2 diabetes was diagnosed before or during the index pregnancy in 4% and 1% of cases, respectively, compared to 1% and 0.05% of controls; the adjusted OR for these two groups combined was 7.2 (95% confidence interval [CI], 3.9-13.1). Gestational diabetes was observed for 9% of cases and 6% of controls; the OR was moderately elevated (OR, 1.4; 95% CI, 0.9-2.0). ORs were also increased for multiple gestations (OR, 2.5; 95% CI, 1.5-4.2) and pre-existing hypertension (OR, 1.6; 95% CI, 1.0-2.5). Because ORs were only elevated for diabetes and not for vasoactive exposures or other potential vascular events, findings suggest that some microtia occurrences may be part of the diabetic embryopathy rather than manifestations of vascular disruption. Birth Defects Research (Part A), 2013. © 2012 Wiley Periodicals, Inc. Copyright © 2012 Wiley Periodicals, Inc.

  13. Readability and quality assessment of websites related to microtia and aural atresia.

    PubMed

    Alamoudi, Uthman; Hong, Paul

    2015-02-01

    Many parents and children utilize the Internet for health-related information, but the quality of these websites can vary. The objective of this study was to assess the quality and readability of microtia and aural atresia related websites. The search engine Google was queried with the terms 'microtia' and 'aural atresia.' The first 30 results were evaluated, and those websites containing original information written in English were reviewed. Quality of content was assessed with the DISCERN instrument, and readability was assessed with the Flesch-Kincaid Reading Grade Level (FKGL) and the Flesch Reading Ease Score (FRES) tests. Each website was also reviewed for ownership and the date of last update. Sixteen microtia and 14 aural atresia websites were included for full review. The mean DISCERN score for microtia websites was 54.4 (SD=8.3), and for aural atresia websites it was 47.6 (SD=10.7), which indicates 'good' and 'fair' quality of content, respectively. Readability assessments showed an average reading level requiring a grade 10 education on FKGL, and only one microtia (6.3%) and one aural atresia (7.1%) websites were deemed to be at 'reasonable' reading level on FRES. High-quality websites that are considered easily comprehensible to the general public were lacking. Since parents and children may use websites when making treatment decisions, physicians should be aware of the quality of health information pertaining to their area of expertise available on the Internet. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  14. Single-stage autologous ear reconstruction for microtia.

    PubMed

    Kasrai, Leila; Snyder-Warwick, Alison K; Fisher, David M

    2014-03-01

    The authors have been using the Nagata technique since 2002. In this review of 100 consecutive ear reconstructions, the authors present technique modifications that have evolved over this period that have contributed to improved auricular contour and that now allow for auricular reconstruction in a single stage. This study is a retrospective review of a prospectively acquired database. The series is restricted to primary reconstructions performed for congenital microtia. Photographs of 10 consecutive patients are presented to demonstrate the results of the technique. Surgical complication rates are discussed. One hundred ear reconstructions were performed in 96 patients. There were 75 primary cases of congenital microtia. Twenty-four ears underwent a two-stage reconstruction, and 51 ears were reconstructed with a Nagata stage I procedure or a single-stage reconstruction. There was a gradual shift in technique, with a trend to perform fewer Nagata stage II outsetting procedures and more single-stage reconstructions. In patients who underwent an ear reconstruction in two stages, the surgical complication rate was 22 percent. In the last 40 consecutive ear reconstructions since abandoning the two-stage approach, the surgical complication rate is now 15 percent. A modification of Nagata's technique of autologous ear reconstruction for microtia is described. Modifications of the three-dimensional framework address the contour of the inferior crus and control tragal projection and position. Inclusion of a projection block and recruitment of retroauricular skin allow for symmetric projection of the ear in a single stage. Therapeutic, IV.

  15. EFFECTS OF GESTATIONAL EXPOSURE TO ETHANE DIMETHANESULFONATE IN CD-1 MICE: MICROTIA AND PRELIMINARY HEARING TESTS

    EPA Science Inventory

    Microtia is a reduction in pinna size, usually seen in humans in conjunction with other medical conditions. Here we report microtia in CD-1 mice following gestational exposure to ethane dimethanesulfonate (EDS), an alkylating agent and adult rat Leydig cell toxicant. Methods...

  16. Microtia Combined With Split Sole of Feet, Deformed Middle Fingers and Café -au-lait Spots on the Trunk: A New Association.

    PubMed

    Yu, Yan; Hu, Jintian; Liu, Tun; Cao, Yilin; Zhang, Qingguo

    2015-11-01

    Microtia is a spectrum of congenital deformities. Approximately, half of the patients are associated with hemifacial microtia. The birth rate of microtia ranges from 2 per 10,000 to 17.4 per 10,000. Microtia and limb deformities sometimes occurred simultaneously as described in the literature. In this report, the patient was found to be with unilateral microtia combined with bilateral split sole of feet, deformed middle fingers on both hands, and café-au-lait spots on the trunk. Despite a thorough literature search, the authors could not achieve a satisfactory diagnosis for the current case with respect to the type of anomalies seen in the case.

  17. [Effectiveness of two-stage operation of auricular reconstruction in treatment of lobule-type microtia].

    PubMed

    Wang, Meishui; Wang, Biao; Zheng, Houbing; Wu, Shanying; Shan, Xiuying; Zhuang, Fulian

    2011-12-01

    To investigate the method and effectiveness of two-stage operation of auricular reconstruction in treating lobule-type microtia. Between March 2007 and April 2010, 19 patients (19 ears) of lobule-type microtia were treated. There were 13 males and 6 females, aged 5 to 27 years (mean, 12.6 years). Of 19 patients, 11 were less than or equal to 14 years old. The locations were left ear in 9 cases and right ear in 10 cases. Two-stage operation for auricular reconstruction of lobule-type microtia included fabrication and grafting of the costal cartilage framework at the first-stage operation and the ear elevation operation at the second-stage operation. Pseudomonas aeruginosa infection occurred in 1 patient after the first-stage operation, who was not given the second-stage operation. Skin necrosis occurred in 1 patient 8 days after the second-stage operation and healed after symptomatic treatment. Eighteen patients were followed up 6 months to 2 years (mean, 14 months). Retraction of cranioauricular angle and thoracic deformity occurred in 1 patient. The surgical results were satisfactory in the other 17 patients whose reconstructive ear had verisimilar shape and suitable cranioauricular angle. Two-stage operation of auricular reconstruction is considered to be an ideal method for lobule-type microtia.

  18. Early prenatal exposure to air pollution and its associations with birth defects in a state-wide birth cohort from North Carolina.

    PubMed

    Vinikoor-Imler, Lisa C; Davis, J Allen; Meyer, Robert E; Luben, Thomas J

    2013-10-01

    Few studies have examined the potential relationship between air pollution and birth defects. The objective of this study was to investigate whether maternal exposure to particulate matter (PM2.5 ) and ozone (O3 ) during pregnancy is associated with birth defects among women living throughout North Carolina. Information on maternal and infant characteristics was obtained from North Carolina birth certificates and health service data (2003-2005) and linked with information on birth defects from the North Carolina Birth Defects Monitoring Program. The 24-hr PM2.5 and O3 concentrations were estimated using a hierarchical Bayesian model of air pollution generated by combining modeled air pollution predictions from the U.S. Environmental Protection Agency's Community Multi-Scale Air Quality model with air monitor data from the Environmental Protection Agency's Air Quality System. Maternal residence was geocoded and assigned pollutant concentrations averaged over weeks 3 to 8 of gestation. Binomial regression was performed and adjusted for potential confounders. No association was observed between either PM2.5 or O3 concentrations and most birth defects. Positive effect estimates were observed between air pollution and microtia/anotia and lower limb deficiency defects, but the 95% confidence intervals were wide and included the null. Overall, this study suggested a possible relationship between air pollution concentration during early pregnancy and certain birth defects (e.g., microtia/anotia, lower limb deficiency defects), although this study did not have the power to detect such an association. The risk for most birth defects does not appear to be affected by ambient air pollution. Copyright © 2013 Wiley Periodicals, Inc.

  19. Maternal caffeine intake and risk of selected birth defects in the National Birth Defects Prevention Study.

    PubMed

    Browne, Marilyn L; Hoyt, Adrienne T; Feldkamp, Marcia L; Rasmussen, Sonja A; Marshall, Elizabeth G; Druschel, Charlotte M; Romitti, Paul A

    2011-02-01

    Caffeine intake is common during pregnancy, yet few epidemiologic studies have examined the association between maternal caffeine consumption and birth defects. Using data from the National Birth Defects Prevention Study (NBDPS), we examined the association between maternal caffeine consumption and anotia/microtia, esophageal atresia, small intestinal atresia, craniosynostosis, diaphragmatic hernia, omphalocele, and gastroschisis. The NBDPS is a multi-site population-based case-control study. The present analysis included 3,346 case infants and 6,642 control infants born from October 1997 through December 2005. Maternal telephone interview reports of demographic characteristics and conditions and exposures before and during pregnancy were collected. Odds ratios and 95% confidence intervals, adjusted for relevant covariates, were calculated to estimate the associations between maternal dietary caffeine intake (coffee, tea, soda, and chocolate) and maternal use of caffeine-containing medications and each defect. We observed small, statistically significant elevations in adjusted odds ratios ranging from 1.3 to 1.8 for total maternal dietary caffeine intake or specific types of caffeinated beverages and anotia/microtia, esophageal atresia, small intestinal atresia, and craniosynostosis; however, dose-response patterns were absent. Periconceptional use of caffeine-containing medications was infrequent and estimates were imprecise. We did not find convincing evidence of an association between maternal caffeine intake and the birth defects included in this study. The increasing popularity of caffeine-containing energy drinks and other caffeinated products may result in higher caffeine intake among women of childbearing age. Future studies should consider more detailed evaluation of such products. Copyright © 2010 Wiley-Liss, Inc.

  20. The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research

    PubMed Central

    Cox, Timothy C.; Camci, Esra D.; Vora, Siddharth; Luquetti, Daniela V.; Turner, Eric E.

    2014-01-01

    Microtia is a term used to describe a wide array of phenotypic presentations of the outer ear. Although the majority of the cases are isolated in nature, much of our understanding of the causes of microtia has been driven by the identification of genes underlying syndromic forms where the anomaly co-presents with various other craniofacial and extra-craniofacial structural defects. In this review we discuss recent findings in mice deficient in Hoxa2, a key regulator of branchial arch patterning, which has necessitated a revision to the canonical model of pinna morphogenesis. The revised model will likely impact current classification schemes for microtia and, as we argue in this review, the interpretation of the developmental basis for various auricular malformations. In addition, we highlight recent studies in other mammalian species that are providing the first clues as to possible causes of at least some isolated anomalies and thus should now accelerate the search for the more elusive genetic contributions to the many isolated and non-syndromic cases of microtia. These findings, together with the application of new genome-level sequencing technologies and more thorough quantitative assessment of available mutant mouse resources, promise an exciting future for genetic studies in microtia. PMID:24880027

  1. Accurate Measurements of the Skin Surface Area of the Healthy Auricle and Skin Deficiency in Microtia Patients

    PubMed Central

    van Doremalen, Rob F. M.; Melchels, Ferry P. W.; Kolodzynski, Michail N.; Pouran, Behdad; Malda, Jos; Kon, Moshe; Breugem, Corstiaan C.

    2016-01-01

    Background: The limited cranial skin covering auricular implants is an important yet underrated factor in auricular reconstruction for both reconstruction surgery and tissue engineering strategies. We report exact measurements on skin deficiency in microtia patients and propose an accessible preoperative method for these measurements. Methods: Plaster ear models (n = 11; male:female = 2:1) of lobular-type microtia patients admitted to the University Medical Center Utrecht in The Netherlands were scanned using a micro-computed tomographic scanner or a cone-beam computed tomographic scanner. The resulting images were converted into mesh models from which the surface area could be calculated. Results: The mean total skin area of an adult-size healthy ear was 47.3 cm2, with 49.0 cm2 in men and 44.3 cm2 in women. Microtia ears averaged 14.5 cm2, with 15.6 cm2 in men and 12.6 cm2 in women. The amount of skin deficiency was 25.4 cm2, with 26.7 cm2 in men and 23.1 cm2 in women. Conclusions: This study proposes a novel method to provide quantitative data on the skin surface area of the healthy adult auricle and the amount of skin deficiency in microtia patients. We demonstrate that the microtia ear has less than 50% of skin available compared with healthy ears. Limited skin availability in microtia patients can lead to healing problems after auricular reconstruction and poses a significant challenge in the development of tissue-engineered cartilage implants. The results of this study could be used to evaluate outcomes and investigate new techniques with regard to tissue-engineered auricular constructs. PMID:28293505

  2. Residential agricultural pesticide exposures and risks of selected birth defects among offspring in the San Joaquin Valley of California.

    PubMed

    Carmichael, Suzan L; Yang, Wei; Roberts, Eric; Kegley, Susan E; Brown, Timothy J; English, Paul B; Lammer, Edward J; Shaw, Gary M

    2016-01-01

    We examined associations of birth defects with residential proximity to commercial agricultural pesticide applications in California. Subjects included 367 cases representing five types of birth defects and 785 nonmalformed controls born 1997 to 2006. Associations with any versus no exposure to physicochemical groups of pesticides and specific chemicals were assessed using logistic regression adjusted for covariates. Overall, 46% of cases and 38% of controls were classified as exposed to pesticides within a 500 m radius of mother's address during a 3-month periconceptional window. We estimated odds ratios (ORs) for 85 groups and 95 chemicals with five or more exposed cases and control mothers. Ninety-five percent confidence intervals (CI) excluded 1.0 for 11 ORs for groups and 22 ORs for chemicals, ranging from 1.9 to 3.1 for groups and 1.8 to 4.9 for chemicals except for two that were <1 (noted below). For groups, these ORs were for anotia/microtia (n = 95 cases) and dichlorophenoxy acids/esters and neonicotinoids; anorectal atresia/stenosis (n = 77) and alcohol/ethers and organophosphates (these ORs were < 1.0); transverse limb deficiencies (n = 59) and dichlorophenoxy acids/esters, petroleum derivatives, and triazines; and craniosynostosis (n = 79) and alcohol/ethers, avermectins, neonicotinoids, and organophosphates. For chemicals, ORs were: anotia/microtia and five pesticides from the groups dichlorophenoxy acids/esters, copper-containing compounds, neonicotinoids, organophosphates, and triazines; transverse limb deficiency and six pesticides - oxyfluorfen and pesticides from the groups copper-containing compounds, 2,6-dinitroanilines, neonicotinoids, petroleum derivatives and polyalkyloxy compounds; craniosynostosis and 10 pesticides - oxyfluorfen and pesticides from the groups alcohol/ethers, avermectins, n-methyl-carbamates, neonicotinoids, ogranophosphates (two chemicals), polyalkyloxy compounds (two chemicals), and pyrethroids; and

  3. An update on auricular reconstruction: three major auricular malformations of microtia, prominent ear and cryptotia.

    PubMed

    Park, Chul; Yoo, Yeon-Sik; Hong, Sung-Taek

    2010-12-01

    Microtia, prominent ear, and cryptotia are the most common types of auricular malformations. This review provides updated information on these types of reconstructions, in addition to recalling previously accepted surgical methods. Autogenous costal cartilage is still considered as an ideal material for framework fabrication in microtia reconstruction. Many surgeons have adopted the Nagata approach, the Brent approach, or variations of the two, in their work. With these employed techniques, auricles reconstructed by experienced surgeons have proven to be aesthetically promising. However, with regards to the harvesting of the costal cartilage, the underdevelopment of the chest wall donor site, alopecia of the scalp, and scarring of the postauricular-mastoid region are still considered problematic aspects of these approaches. Some articles have described attempts to solve these problems, whereas some experiments in cartilage production using tissue engineering techniques have shown promise in their initial stages of development.It is generally accepted that prominent ears should be corrected through a combination of sculpting and suture techniques, according to the individual shape and the quality of the ear prominence.Most of the cryptotia malformations show not only embedded upper auricles, but also associated adhesions of the upper auricular cartilage. Their correction should therefore resolve both deformities. A number of articles highlighting clinical experiences with auricular reconstructions for microtia, prominent ear, and cryptotia have been included in this review. We believe that the information synthesized here will become a basis for further development of auricular reconstruction techniques.

  4. Two stage ear/microtia reconstruction using costal cartilage.

    PubMed

    Balaji, S M

    2015-01-01

    Reconstruction of Grade III microtia is a challenging entity in maxillofacial esthetic rehabilitation. Several advocacies and philosophies exist in this field. The aim of the manuscript is to present a single South Indian Experience with Ear reconstruction among South Indian Population. Retrospective analysis of unilateral Grade III microtia reconstruction was performed. Using a set of predefined inclusion and exclusion criteria, the population was selected. Outcome measures in terms of the ear size, auriculocephalic angle, and the conchal depth were measured in the reconstructed and normal side. Descriptive statistics is presented. Twenty-four patients formed the study group and had undergone the classical two-stage reconstruction in a similar fashion. The mean ear size in normal side was 65.8 ± 2.8 mm whereas on the reconstructed side, it was 61.3 ± 5.8 mm. The center's technique achieved above 75% similarity as that of the other normal ear. The mean auriculocephalic angle was 44.6 ± 5.2° whereas for the surgically reconstructed ear, it was 41.9 ± 2.6°. Overall, in these patients, we achieved a 79.94% similarity of auriculocephalic angle in the reconstructed ear as compared to the normal auricle. The conchal depth was 19.2 ± 2.1 mm and 16.6 ± 1.9 mm for normal and reconstructed ear, respectively. In terms of conchal depth, the present study group showed an achievement of 82.88% of accuracy even after a prolonged follow-up. The center employs a classic two stage reconstruction with a customized prosthesis that helps to avoid the loss of projection geometry and minimizes adhesion, infection, and early loss of structural stability.

  5. Auricular reconstruction for microtia: Part II. Surgical techniques.

    PubMed

    Walton, Robert L; Beahm, Elisabeth K

    2002-07-01

    Reconstruction of the microtic ear represents one of the most demanding challenges in reconstructive surgery. In this review the two most commonly used techniques for ear reconstruction, the Brent and Nagata techniques, are addressed in detail. Unique to this endeavor, the originator of each technique has been allowed to submit representative case material and to address the pros and cons of the other's technique. What follows is a detailed, insightful overview of microtia reconstruction, as a state of the art. The review then details commonly encountered problems in ear reconstruction and pertinent technical points. Finally, a glimpse into the future is offered with an accounting of the advances made in tissue engineering as this technology applies to auricular reconstruction.

  6. Pursuing Mirror Image Reconstruction in Unilateral Microtia: Customizing Auricular Framework by Application of Three-Dimensional Imaging and Three-Dimensional Printing.

    PubMed

    Chen, Hsin-Yu; Ng, Li-Shia; Chang, Chun-Shin; Lu, Ting-Chen; Chen, Ning-Hung; Chen, Zung-Chung

    2017-06-01

    Advances in three-dimensional imaging and three-dimensional printing technology have expanded the frontier of presurgical design for microtia reconstruction from two-dimensional curved lines to three-dimensional perspectives. This study presents an algorithm for combining three-dimensional surface imaging, computer-assisted design, and three-dimensional printing to create patient-specific auricular frameworks in unilateral microtia reconstruction. Between January of 2015 and January of 2016, six patients with unilateral microtia were enrolled. The average age of the patients was 7.6 years. A three-dimensional image of the patient's head was captured by 3dMDcranial, and virtual sculpture carried out using Geomagic Freeform software and a Touch X Haptic device for fabrication of the auricular template. Each template was tailored according to the patient's unique auricular morphology. The final construct was mirrored onto the defective side and printed out with biocompatible acrylic material. During the surgery, the prefabricated customized template served as a three-dimensional guide for surgical simulation and sculpture of the MEDPOR framework. Average follow-up was 10.3 months. Symmetric and good aesthetic results with regard to auricular shape, projection, and orientation were obtained. One case with severe implant exposure was salvaged with free temporoparietal fascia transfer and skin grafting. The combination of three-dimensional imaging and manufacturing technology with the malleability of MEDPOR has surpassed existing limitations resulting from the use of autologous materials and the ambiguity of two-dimensional planning. This approach allows surgeons to customize the auricular framework in a highly precise and sophisticated manner, taking a big step closer to the goal of mirror-image reconstruction for unilateral microtia patients. Therapeutic, IV.

  7. A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate.

    PubMed

    Huang, Xue-shuang; Zhu, Bao; Jiang, Hai-ou; Wu, Su-fan; Zhang, Zai-qi; Xiao, Lin; Yi, Li-lan; Zhang, Jian-xiang

    2013-04-01

    We reported a 2-year-old boy with developmental delay, mild mental retardation, and severe craniofacial malformation, including facial asymmetry with hypoplasia of the left zygoma, maxilla, and mandible, and left anophthalmia and anotia. A genome-wide screen revealed a 1.38 Mb duplication on chromosome 1q31.1, which was absent in his parents and 27 healthy controls. The duplication region contains two Refseq genes, PLA2G4A and C1orf99, which have not been reported to be implicated in craniofacial malformation. Functional studies of these genes and additional clinical analysis are necessary to elucidate the pathogenesis of craniofacial malformation. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  8. Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

    PubMed

    Schweitzer, Daniela N; Yano, Shoji; Earl, Dawn L; Graham, John M

    2003-07-30

    In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives. Copyright 2003 Wiley-Liss, Inc.

  9. [Analysis of the speech discrimination scores of patients with congenital unilateral microtia and external auditory canal atresia in noise].

    PubMed

    Zhang, Y; Li, D D; Chen, X W

    2017-06-20

    Objective: Case-control study analysis of the speech discrimination of unilateral microtia and external auditory canal atresia patients with normal hearing subjects in quiet and noisy environment. To understand the speech recognition results of patients with unilateral external auditory canal atresia and provide scientific basis for clinical early intervention. Method: Twenty patients with unilateral congenital microtia malformation combined external auditory canal atresia, 20 age matched normal subjects as control group. All subjects used Mandarin speech audiometry material, to test the speech discrimination scores (SDS) in quiet and noisy environment in sound field. Result: There's no significant difference of speech discrimination scores under the condition of quiet between two groups. There's a statistically significant difference when the speech signal in the affected side and noise in the nomalside (single syllable, double syllable, statements; S/N=0 and S/N=-10) ( P <0.05). There's no significant difference of speech discrimination scores when the speech signal in the nomalside and noise in the affected side. There's a statistically significant difference in condition of the signal and noise in the same side when used one-syllable word recognition (S/N=0 and S/N=-5) ( P <0.05), while double syllable word and statement has no statistically significant difference ( P >0.05). Conclusion: The speech discrimination scores of unilateral congenital microtia malformation patients with external auditory canal atresia under the condition of noise is lower than the normal subjects. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

  10. Teasing in younger and older children with microtia before and after ear reconstruction.

    PubMed

    Johns, Alexis L; Lewin, Sheryl L; Im, Daniel D

    2017-06-01

    This study prospectively measured teasing and emotional adjustment before and after ear reconstruction in younger and older children with microtia. Participants with isolated microtia (n = 28) were divided into two groups by age at surgery, with a younger group aged 3-5 years (n = 13) with a mean age of 4.0 (0.71) years at the time of surgery and an older group aged 6-10 years old (n = 15) with a mean age of 7.87 (1.30) years. Children and their parents were interviewed preoperatively and a year after surgery about teasing and emotions about their ear(s). Teasing began between the ages of 2.4-4.8 years. A third of the younger group and all of the older group reported preoperative teasing. Before surgery, the older group reported higher rates of negative emotions about their ear(s) and teasing was correlated for all ages with feeling sad, worried, and mad about their ear(s). After surgery, teasing and negative emotions significantly decreased with increased happiness about their ear(s). Postoperative teasing was correlated with trying to hide their ear(s). There were significant interactions from before to after surgery based on surgery age for frequency of teasing, sadness, and feeling mad, with the older group showing relatively greater change postoperatively. Teasing and negative emotions about their ear(s) decreased for all ages after surgery, with a potential protective factor seen in younger surgery age.

  11. [Ultrasound duplex scanning of head and neck vessels with the aim of preoperational preparation of the patients with inherent microtia of the III degree].

    PubMed

    Chkadua, T Z; Kuz'mina, I V; Ramazanova, Iu I

    2010-01-01

    For surgical treatment of patients with inherent microtia of the III degree we use one stage method of otoplasty with silicone implant and parietotemporal fascial flap. In order to receive most full picture of the status of superficial temporal artery and its branches the additional diagnostic study is necessary. Method of ultrasound duplex scanning let to study any vessel in real time regimen under monitor screen control. Received by us results of ultrasound duplex scanning of superficial temporal artery branches in patients with inherent microtia of the III degree let us to conclude about the status of the vessel wall, to determine diameter and vessel occlusion, to evaluate and measure blood flow parameters. It is diagnostically necessary criteria for answering the question about flap vitality and in such a way let to avoid possible complications.

  12. Descriptive Analysis of the Arterial Supply to the Auricle in Patients with Unilateral Microtia

    PubMed Central

    Márquez-Gutiérrez, Erik Agustín; Gutiérrez-Gómez del Hierro, Claudia; Pereyra-Arzate, Jorge Enrique; Rivera-Martínez, Rodolfo

    2017-01-01

    Background: Microtia is a congenital auricular deformity that occurs in 1:5,000–10,000 births. It can cause severe impairment to the patient’s self-esteem and problems regarding social integration. Multiple measures have been described in attempt to better operative outcomes of these patients. We used computed tomography (CT) angiography to analyze the vascular pattern of the auricular region before surgery. Methods: Fourteen patients with unilateral microtia were included. All underwent CT angiogram plus tridimensional reconstruction. Both healthy and microtic auricles were analyzed descriptively in terms of main arterial supply, pattern, diameter of subbranches, and angulation. The sample was divided in 2 age groups for better understanding of the data. Results: Blood supply to the auricle was found to depend on 2 main vessels: temporal superficial artery (TSA) and its subbranches (superior, middle, and lower branch) and posterior auricular (PA) artery. In the microtic group, TSA was the dominant artery in 13 of 14 cases (92%). Superior, middle, and inferior branches were present in 4, 3, and 0 cases, respectively. Three of the microtic auricles presented supply from PA artery, from which in 1 case, it represented the only supply to the region. Conclusions: There is wide variability in the blood supply of both healthy and microtic auricles; however, we were able to identify some tendencies in our sample. Further research is needed to prove the benefit of a preoperative imaging study in these patients. Still, in our experience, we found it useful as a complement for surgical planning. PMID:29632773

  13. [Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment].

    PubMed

    Arteaga-Vázquez, Jazmín; Luna-Muñoz, Leonora; Mutchinick, Osvaldo M

    2012-01-01

    To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. Multicenter case-control study, in 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

  14. A new skin flap method for total auricular reconstruction in microtia patients with a reconstructed ear canal: extended scalp and extended mastoid postauricular skin flaps.

    PubMed

    Hwang, Euna; Kim, Young Soo; Chung, Seum

    2014-06-01

    Before visiting a plastic surgeon, some microtia patients may undergo canaloplasty for hearing improvement. In such cases, scarred tissues and the reconstructed external auditory canal in the postauricular area may cause a significant limitation in using the posterior auricular skin flap for ear reconstruction. In this article, we present a new method for auricular reconstruction in microtia patients with previous canaloplasty. By dividing a postauricular skin flap into an upper scalp extended skin flap and a lower mastoid extended skin flap at the level of a reconstructed external auditory canal, the entire anterior surface of the auricular framework can be covered with the two extended postauricular skin flaps. The reconstructed ear shows good color match and texture, with the entire anterior surface of the reconstructed ear being resurfaced with the skin flaps. Clinical question/level of evidence; therapeutic level IV. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  15. Rib Cartilage Assessment Relative to the Healthy Ear in Young Children with Microtia Guiding Operative Timing.

    PubMed

    Kang, Shen-Song; Guo, Ying; Zhang, Dong-Yi; Jiang, Du-Yin

    2015-08-20

    The optimal age at which to initiate for auricular reconstruction is controversial. Rib cartilage growth is closely related to age and determines the feasibility and outcomes of auricular reconstruction. We developed a method to guide the timing of auricular reconstruction in children with microtia ranging in age from 5 to 10 years. Rib cartilage and the healthy ear were assessed using low-dose multi-slice computed tomography. The lengths of the eighth rib cartilage and the helix of the healthy ear (from the helical crus to the joint of the helix and the earlobe) were measured. Surgery was performed when the two lengths were approximately equal. The preoperative eighth rib measurements significantly correlated with the intraoperative measurements (P < 0.05). From 5 to 10 years of age, eighth rib growth was not linear. In 76 (62.8%) of 121 patients, the eighth rib length was approximately equal to the helix length in the healthy ear; satisfactory outcomes were achieved in these patients. In 18 (14.9%) patients, the eighth rib was slightly shorter than the helix, helix fabrication was accomplished by adjusting the length of the helical crus of stent, and satisfactory outcomes were also achieved. Acceptable outcomes were achieved in 17 (14.0%) patients in whom helix fabrication was accomplished by cartilage splicing. In 9 (7.4%) patients with insufficient rib cartilage length, the operation was delayed. In one (0.8%) patient with insufficient rib cartilage length, which left no cartilage for helix splicing, the result was unsatisfactory. Eighth rib cartilage growth is variable. Rib cartilage assessment relative to the healthy ear can guide auricular reconstruction and personalize treatment in young patients with microtia.

  16. Three-dimensional autologous cartilage framework fabrication assisted by new additive manufactured ear-shaped templates for microtia reconstruction.

    PubMed

    Zhou, Jiayu; Pan, Bo; Yang, Qinghua; Zhao, Yanyong; He, Leren; Lin, Lin; Sun, Hengyun; Song, Yupeng; Yu, Xiaobo; Sun, Zhongyang; Jiang, Haiyue

    2016-10-01

    During microtia reconstruction, the intraoperative design of the cartilage framework is important for the appearance and symmetry of the bilateral auricles. Templates (traditionally, the X-ray film template) are usually utilized to complete the task, which can provide cues regarding size, cranioauricular angle and positioning to the surgeons. With a combination of three-dimensional (3D) scanning and additive manufacturing (AM) techniques, we utilized two different ear-shaped templates (sheet moulding and 3D templates) during the fabrication of 3D-customized autologous cartilage frameworks for auricle reconstruction. Forty unilateral microtia patients were included in the study. All the patients underwent auricle reconstruction using the tissue-expanding technique assisted by the new AM templates. Images were processed using computer-aided design software and exported to print two different AM ear-shaped templates: sheet moulding and 3D. Both templates were assisted by the 3D framework fabrication. The 3D images of each patient's head were captured preoperatively using a 3D scanner. X-ray film templates were also made for the patients. The lengths and widths of the contralateral auricles, X-ray film and sheet moulding templates were measured in triplicate. The error of the template and the contralateral auricle were used to compare the accuracy between the two templates. Between January and May 2014, 40 unilateral microtia patients aged 6-29 years were included in this study. All patients underwent auricle reconstruction using autogenous costal cartilage. The sterilized AM templates were used to assist in the framework fabrication. The operative time was decreased by an average of 15 min compared with the method assisted by the X-ray film template. Postoperative appearance evaluation (based on five indexes: symmetry, length, width, cranioauricular angle and the substructure of the reconstructed ear) was performed by both the doctors and the patients (or their

  17. Satisfactory surgical option for cartilage graft absorption in microtia reconstruction.

    PubMed

    Han, So-Eun; Oh, Kap Sung

    2016-04-01

    We routinely perform auricular elevation at least 6 months after implantation of framework in microtia reconstruction using costal cartilage. However, in a few cases, cartilage graft absorption has occurred, which has led to contour irregularity with unfavorable long-term results. In the present study, we recount the details of using additional rib cartilage augmentation to achieve an accentuated contour in cartilage graft absorption cases. The cartilage graft absorption was defined as contour irregularity or cartilage graft deformation as evaluated by the surgeon and patient. Depending on the extent of cartilage graft absorption, another rib cartilage framework was added to the previously implanted framework, targeting the absorption area. We used banked cartilage or harvested new cartilage based on three-dimensional rib computed tomography. Additional recontouring of framework was conducted in eight patients who were examined for cartilage graft absorption from 1.5 to 5 years after implantation of the framework. Four patients received additional rib cartilage augmentation and tissue expander insertion simultaneously prior to auricular elevation. Two patients underwent auricular elevation simultaneously. In another two patients, additional rib cartilage augmentation was performed before auricular elevation. The mean follow-up period was 18 months, and in all cases reconstructive results were acceptable. Although further follow-up evaluation is required, additional rib cartilage augmentation is an attractive surgical option for cartilage graft absorption cases. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  18. Using Four-Layer Sculpted Rib Cartilage Framework to Increase Transverse Height of the Reconstructive Ear in One Operative Stage for Microtia Patients.

    PubMed

    Wan, Rui; Pang, Xingyuan; Ren, Jun

    2018-02-01

    This case study improves an operative method of ear reconstruction for microtia patients by using a four-layer rib cartilage framework to increase transverse height of the reconstructive ear to a natural level in one operative stage. The procedures of ear reconstruction were conducted from February 2014 to May 2016. The ear framework used in the procedures was fabricated from autologous rib cartilage into a four-layer spliced sculpture. Totally 23 patients with unilateral microtia were willing to be enrolled in this study. After the operation, 23 patients achieved 2.3-2.8 cm transverse height of reconstructed ears, which was basically the same as the normal side. Both patients and their families felt satisfied with the results. Follow-up was performed at 6-16 months after the procedures. Only one case showed significantly lowered transverse height of the reconstructed ear, compared to the normal one. It was due to the sleeping position of the patient (10-year-old boy), which put the reconstructed ear under pressure and reduced the transverse height of the ear. The method of four-layer sculpted autologous rib cartilage ear reconstruction has good clinical effect. It can provide a reconstructed ear that reaches normal transverse height and avoids a third operation to increase the transverse height by rib cartilage transplantation. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  19. Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia.

    PubMed

    Thiel, Christian T; Rosanowski, Frank; Kohlhase, Jürgen; Reis, André; Rauch, Anita

    2005-04-01

    A number of different disorders involving first and second branchial arch anomalies have been described as distinct entities, including Treacher-Collins-Franceschetti syndrome, Goldenhar syndrome, Nager syndrome and Miller syndrome. The significant phenotypic overlap between these disorders raises the issue of a common developmental origin. After the identification of mutations in TCOF1 as a general cause of the Treacher-Collins-Franceschetti syndrome, TCOF1 mutations were excluded in patients with unilateral signs of the Goldenhar syndrome spectrum. We also present two rare cases of bilateral Goldenhar syndrome and familial microtia with meatal atresia, respectively, in whom we also excluded TCOF1 mutations. Thus, genetic heterogeneity in different disorders of the first and second branchial arch development is supported.

  20. Hearing improvement with softband and implanted bone-anchored hearing devices and modified implantation surgery in patients with bilateral microtia-atresia.

    PubMed

    Wang, Yibei; Fan, Xinmiao; Wang, Pu; Fan, Yue; Chen, Xiaowei

    2018-01-01

    To evaluate auditory development and hearing improvement in patients with bilateral microtia-atresia using softband and implanted bone-anchored hearing devices and to modify the implantation surgery. The subjects were divided into two groups: the softband group (40 infants, 3 months to 2 years old, Ponto softband) and the implanted group (6 patients, 6-28 years old, Ponto). The Infant-Toddler Meaning Auditory Integration Scale was used conducted to evaluate auditory development at baseline and after 3, 6, 12, and 24 months, and visual reinforcement audiometry was used to assess the auditory threshold in the softband group. In the implanted group, bone-anchored hearing devices were implanted combined with the auricular reconstruction surgery, and high-resolution CT was used to assess the deformity preoperatively. Auditory threshold and speech discrimination scores of the patients with implants were measured under the unaided, softband, and implanted conditions. Total Infant-Toddler Meaning Auditory Integration Scale scores in the softband group improved significantly and approached normal levels. The average visual reinforcement audiometry values under the unaided and softband conditions were 76.75 ± 6.05 dB HL and 32.25 ± 6.20 dB HL (P < 0.01), respectively. In the implanted group, the auditory thresholds under the unaided, softband, and implanted conditions were 59.17 ± 3.76 dB HL, 32.5 ± 2.74 dB HL, and 17.5 ± 5.24 dB HL (P < 0.01), respectively. The respective speech discrimination scores were 23.33 ± 14.72%, 77.17 ± 6.46%, and 96.50 ± 2.66% (P < 0.01). Using softband bone-anchored hearing devices is effective for auditory development and hearing improvement in infants with bilateral microtia-atresia. Wearing softband bone-anchored hearing devices before auricle reconstruction and combining bone-anchored hearing device implantation with auricular reconstruction surgery may bethe optimal clinical choice for these patients, and

  1. Chondrogenesis of Human Adipose-Derived Stem Cells by In Vivo Co-graft with Auricular Chondrocytes from Microtia.

    PubMed

    Cai, Zhen; Pan, Bo; Jiang, Haiyue; Zhang, Lixia

    2015-06-01

    To evaluate the efficiency of chondrogenesis of human adipose-derived stem cells (ADSCs) induced by auricular chondrocytes from microtia via subcutaneous co-graft in nude mice. Human ADSCs and auricular chondrocytes were mixed at the ratio of 7:3 and suspended in 0.2 ml of Pluronic F-127 (5.0 × 10(7) cells/ml), and injected into Balb/c nude mice as the experimental group (Exp group). The same quantity of auricular chondrocytes (Ctr.1 group) or ADSCs (Ctr.2 group) in 0.2 ml of Pluronic F-127 was set as positive and negative control groups. The mixture of auricular chondrocytes (1.5 × 10(7) cells/ml) in 0.2 ml of Pluronic F-127 was set as the low concentration of chondrocyte control group (Ctr.3). At 8 weeks after grafting, the newly generated tissue pellets were isolated for morphological examination, haematoxylin and eosin staining, toluidine blue staining and safranin O staining of glycosaminoglycan (GAG), Masson's trichrome staining and immunohistochemical staining of type II collagen, and Verhoeff-iron-hematoxylin staining of elastic fibers. GAG content was determined by Alcian blue colorimetric method, and mRNA expression of type II collagen and aggrecan were examined by real-time PCR. Cartilage-like tissue with a white translucent appearance and good elasticity was generated in the Exp and Ctr.1 groups. The tissue pellets in the Ctr.2 and Ctr.3 groups were much smaller than those in the Ctr.1 group. The mature cartilage lacunas could be observed in the Exp and Ctr.1 groups, while were rarely seen in the Ctr.3 group and not observed in the Ctr.2 group. The expression of cartilage-specific extracellular matrix such as type II collagen, GAG content, aggrecan, and elastic fibers in the Exp group was similar to that in the Ctr.1 group, whereas the expression of these extracellular matrix substances was significantly lower in the Ctr.2 and Ctr.3 groups (both P < 0.01). Auricular chondrocytes from microtia can efficiently promote the chondrogenic differentiation

  2. Correction of lobule-type microtia: I. The first stage of costal cartilage grafting.

    PubMed

    Yotsuyanagi, Takatoshi; Yamashita, Ken; Yamauchi, Makoto; Sugai, Asuka; Kayama, Musashi; Gonda, Ayako; Kita, Arisa

    2014-01-01

    Recently, auriculoplasty with costal cartilage grafting has been successfully used for correcting microtia and creating a clearly refined contour and a natural appearance of the ear. However, several important problems remain unsolved in these techniques. The authors describe an improved technique for harvesting costal cartilage with minimal morbidity and a new procedure for fabricating a cartilage frame that ensures a refined shape and rigid structure of the constructed ear. Costal cartilage is harvested directly with a chisel. This technique enables some of the cartilage at the chest wall to remain intact. The base frame is fabricated by two cartilage blocks partly overlapped on the area of the antihelix. The thickness in the overlapping area emphasizes the contour between the antihelix and the helical crus. To prevent absorption of the cartilage, helical and antihelical parts are created using the outer rigid layer of the harvested cartilage and are covered as much as possible by perichondrium. A total of 137 ears in 121 patients were corrected with the authors' technique and followed up for at least 3 years. Almost all of the patients could walk within 2 days after the operation. The structure and contour of the constructed ear were well maintained. Attention should be given not only to successful outcomes of construction of the ear but also to minimal morbidity for the patients. Our technique made it possible to construct a cosmetically refined ear that could be maintained for a long period and minimize the pain and deformity of the donor's chest.

  3. Traffic-Related Air Pollution and Selected Birth Defects in the San Joaquin Valley of California

    PubMed Central

    Padula, Amy M.; Tager, Ira B.; Carmichael, Suzan L.; Hammond, S. Katharine; Yang, Wei; Lurmann, Frederick W.; Shaw, Gary M.

    2014-01-01

    BACKGROUND Birth defects are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some structural anomalies, although evidence is limited and several anomalies have not been investigated previously. METHODS We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 26 congenital birth defect phenotypes with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997 to 2006 (874 cases and 849 controls). We calculated odds ratios (adjusted for maternal race/ethnicity, education, and vitamin use; aOR) for 11 phenotypes that had at least 40 cases. RESULTS Few odds ratios had confidence intervals that did not include 1.0. Odds of esophageal atresia were increased for the highest versus lowest of traffic density (aOR = 2.8, 95% confidence interval [CI], 1.1–7.4) and PM10 exposure (aOR 4.9; 95% CI, 1.4–17.2). PM10 was associated with a decreased risk of hydrocephaly (aOR= 0.3; 95% CI, 0.1–0.9) and CO with decreased risk of anotia/microtia (aOR = 0.4; 95% CI, 0.2–0.8) and transverse limb deficiency (aOR = 0.4; 95% CI, 0.2–0.9), again reflecting highest versus lowest quartile comparisons. CONCLUSION Most analyses showed no substantive association between air pollution and the selected birth defects with few exceptions of mixed results. PMID:24108522

  4. Traffic-related air pollution and selected birth defects in the San Joaquin Valley of California.

    PubMed

    Padula, Amy M; Tager, Ira B; Carmichael, Suzan L; Hammond, S Katharine; Yang, Wei; Lurmann, Frederick W; Shaw, Gary M

    2013-11-01

    Birth defects are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some structural anomalies, although evidence is limited and several anomalies have not been investigated previously. We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 26 congenital birth defect phenotypes with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997 to 2006 (874 cases and 849 controls). We calculated odds ratios (adjusted for maternal race/ethnicity, education, and vitamin use; aOR) for 11 phenotypes that had at least 40 cases. Few odds ratios had confidence intervals that did not include 1.0. Odds of esophageal atresia were increased for the highest versus lowest of traffic density (aOR = 2.8, 95% confidence interval [CI], 1.1-7.4) and PM10 exposure (aOR 4.9; 95% CI, 1.4-17.2). PM₁₀ was associated with a decreased risk of hydrocephaly (aOR= 0.3; 95% CI, 0.1-0.9) and CO with decreased risk of anotia/microtia (aOR = 0.4; 95% CI, 0.2-0.8) and transverse limb deficiency (aOR = 0.4; 95% CI, 0.2-0.9), again reflecting highest versus lowest quartile comparisons. Most analyses showed no substantive association between air pollution and the selected birth defects with few exceptions of mixed results. Copyright © 2013 Wiley Periodicals, Inc.

  5. High-Fidelity Tissue Engineering of Patient-Specific Auricles for Reconstruction of Pediatric Microtia and Other Auricular Deformities

    PubMed Central

    Reiffel, Alyssa J.; Kafka, Concepcion; Hernandez, Karina A.; Popa, Samantha; Perez, Justin L.; Zhou, Sherry; Pramanik, Satadru; Brown, Bryan N.; Ryu, Won Seuk; Bonassar, Lawrence J.; Spector, Jason A.

    2013-01-01

    Introduction Autologous techniques for the reconstruction of pediatric microtia often result in suboptimal aesthetic outcomes and morbidity at the costal cartilage donor site. We therefore sought to combine digital photogrammetry with CAD/CAM techniques to develop collagen type I hydrogel scaffolds and their respective molds that would precisely mimic the normal anatomy of the patient-specific external ear as well as recapitulate the complex biomechanical properties of native auricular elastic cartilage while avoiding the morbidity of traditional autologous reconstructions. Methods Three-dimensional structures of normal pediatric ears were digitized and converted to virtual solids for mold design. Image-based synthetic reconstructions of these ears were fabricated from collagen type I hydrogels. Half were seeded with bovine auricular chondrocytes. Cellular and acellular constructs were implanted subcutaneously in the dorsa of nude rats and harvested after 1 and 3 months. Results Gross inspection revealed that acellular implants had significantly decreased in size by 1 month. Cellular constructs retained their contour/projection from the animals' dorsa, even after 3 months. Post-harvest weight of cellular constructs was significantly greater than that of acellular constructs after 1 and 3 months. Safranin O-staining revealed that cellular constructs demonstrated evidence of a self-assembled perichondrial layer and copious neocartilage deposition. Verhoeff staining of 1 month cellular constructs revealed de novo elastic cartilage deposition, which was even more extensive and robust after 3 months. The equilibrium modulus and hydraulic permeability of cellular constructs were not significantly different from native bovine auricular cartilage after 3 months. Conclusions We have developed high-fidelity, biocompatible, patient-specific tissue-engineered constructs for auricular reconstruction which largely mimic the native auricle both biomechanically and histologically

  6. Precision of three-dimensional stereo-photogrammetry (3dMD™) in anthropometry of the auricle and its application in microtia reconstruction.

    PubMed

    Chen, Zung-Chung; Albdour, Mohammad Nayef; Lizardo, Jesus Ablaza; Chen, Ying-An; Chen, Philip Kuo-Ting

    2015-05-01

    The advent of three-dimensional stereo-photogrammetry in recent years has vastly helped the craniomaxillofacial field improve in terms of preoperative and intraoperative decision making. With regard to the auricle though, there is paucity of research as to the application of this promising technology. A total of 20 normal adult ears were included in this study. Thirteen anthropometric measurements were taken, twice by two plastic surgeons using direct measurement (DM) and through images captured via 3dMD™. The purpose was to compare the reliability of measurements involving the two instruments. The overall mean absolute differences (MADs) of all ear anthropometries of DM and 3dMD™ were 0.52 mm (range: 0.28-0.72 mm) and 0.27 mm (range: 0.15-0.53 mm), respectively, and the grand mean relative error magnitudes (REMs) were 2.85% (range: 1.01-5.99%) and 1.57% (range: 0.48-3.62%), respectively, across observers. Thus, the precision of all ear anthropometries across observers was high in both methods, but the precision of 3dMD was better than DM irrespective of observers. In addition, the MADs were less than a millimeter across all measurements. The application of three-dimensional technology in microtia surgery for both template production and soft tissue analysis leads to improved planning and satisfactory results with fewer complications. We believe that with further refinement and enhancement, the use of this innovation will pave the way for prefabricated, individualized autologous or biocompatible alloplastic implantable frameworks based on an accurate mirror image of each patient's normal ear in unilateral cases and in bilateral cases, appropriately sized. Copyright © 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  7. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.

    PubMed

    Su, Pen-Hua; Chen, Jia-Yu; Chen, Suh-Jen; Yu, Ju-Shan

    2006-06-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TCOF1 gene, which encodes the nuclear phosphoprotein treacle. Here, we describe a 1-day-old male infant with classical TCS presentation. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. This is the first report of TCOF1 gene mutation in the Taiwanese population.

  8. Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).

    PubMed

    Boles, R G; Teebi, A S; Schwartz, D; Harper, J F

    1994-07-01

    Two daughters of phenotypically normal parents are described with severe proportional dwarfism with microcephaly, peculiar craniofacial anomalies, microtia, absent patellae, joint hyperextensibility, and other anomalies. Intrafamilial variability is minimal. This combination of anomalies has many similarities to the six cases previously described with the Ear, Patellae, Short stature syndrome (Meier-Gorlin syndrome), which is distinguished by the triad of microtia, absent patellae and growth retardation. Autosomal recessive inheritance is strongly suggested by the presence of two pairs of affected siblings and the equal sex ratio.

  9. Facial Paralysis in Patients With Hemifacial Microsomia: Frequency, Distribution, and Association With Other OMENS Abnormalities.

    PubMed

    Li, Qiang; Zhou, Xu; Wang, Yue; Qian, Jin; Zhang, Qingguo

    2018-05-15

    Although facial paralysis is a fundamental feature of hemifacial microsomia, the frequency and distribution of nerve abnormalities in patients with hemifacial microsomia remain unclear. In this study, the authors classified 1125 cases with microtia (including 339 patients with hemifacial microsomia and 786 with isolated microtia) according to Orbital Distortion Mandibular Hypoplasia Ear Anomaly Nerve Involvement Soft Tissue Dependency (OMENS) scheme. Then, the authors performed an independent analysis to describe the distribution feature of nerve abnormalities and reveal the possible relationships between facial paralysis and the other 4 fundamental features in the OMENS system. Results revealed that facial paralysis is present 23.9% of patients with hemifacial microsomia. The frontal-temporal branch is the most vulnerable branch in the total 1125 cases with microtia. The occurrence of facial paralysis is positively correlated with mandibular hypoplasia and soft tissue deficiency both in the total 1125 cases and the hemifacial microsomia patients. Orbital asymmetry is related to facial paralysis only in the total microtia cases, and ear deformity is related to facial paralysis only in hemifacial microsomia patients. No significant association was found between the severity of facial paralysis and any of the other 4 OMENS anomalies. These data suggest that the occurrence of facial paralysis may be associated with other OMENS abnormalities. The presence of serious mandibular hypoplasia or soft tissue deficiency should alert the clinician to a high possibility but not a high severity of facial paralysis.

  10. 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.

  11. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

    PubMed

    Sensi, Alberto; Ceruti, Stefano; Trevisi, Patrizia; Gualandi, Francesca; Busi, Micol; Donati, Ilaria; Neri, Marcella; Ferlini, Alessandra; Martini, Alessandro

    2011-05-01

    We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did not show any of the two newly reported missense variations. We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome. Copyright © 2011 Wiley-Liss, Inc.

  12. Technical innovations in ear reconstruction using a skin expander with autogenous cartilage grafts.

    PubMed

    Dashan, Yu; Haiyue, Jiang; Qinghua, Yang; Bo, Pan; Lin, Lin; Tailing, Wang; Yanmei, Wang; Xiao, Qin; Hongxing, Zhuang

    2008-01-01

    Pioneers such as Tanzer and Brent have established the foundations of microtia reconstruction using an autogenous costal cartilage framework. The framework and its skin coverage are the two limiting factors in ear reconstruction. At the present time autogenous rib cartilage and mastoid skin are still first choice materials for most surgeons. They have the combined advantages of well-matched texture and colour. To reconstruct a symmetrical, accurate, prominent auricle and minimise as much as possible the chest wall deformity caused by rib cartilage harvesting, we set out to improve our techniques for cartilaginous framework definition and to use the remnant ear to enhance the projection of the reconstructed ear. Since 2000, 342 cases (366 ears) were treated using our current techniques. Data pertaining to complications were recorded. Final results were assessed a minimum of 1 year postoperatively. The follow-up period ranged from 1 to 6 years. Most of the patients with microtia were satisfied with the results of their ear reconstruction. In conclusion, our techniques help to reduce the quantity of rib cartilage needed to fabricate ear framework and minimise chest wall deformity. The frameworks are accurate, prominent and stable. Reconstructed ears are similar in colour and appearance to the normal side. Our innovations are practical and reliable for microtia reconstruction using skin expanders in combination with a sculpted autogenous rib cartilage framework.

  13. The role of 3D printing in treating craniomaxillofacial congenital anomalies.

    PubMed

    Lopez, Christopher D; Witek, Lukasz; Torroni, Andrea; Flores, Roberto L; Demissie, David B; Young, Simon; Cronstein, Bruce N; Coelho, Paulo G

    2018-05-20

    Craniomaxillofacial congenital anomalies comprise approximately one third of all congenital birth defects and include deformities such as alveolar clefts, craniosynostosis, and microtia. Current surgical treatments commonly require the use of autogenous graft material which are difficult to shape, limited in supply, associated with donor site morbidity and cannot grow with a maturing skeleton. Our group has demonstrated that 3D printed bio-ceramic scaffolds can generate vascularized bone within large, critical-sized defects (defects too large to heal spontaneously) of the craniomaxillofacial skeleton. Furthermore, these scaffolds are also able to function as a delivery vehicle for a new osteogenic agent with a well-established safety profile. The same 3D printers and imaging software platforms have been leveraged by our team to create sterilizable patient-specific intraoperative models for craniofacial reconstruction. For microtia repair, the current standard of care surgical guide is a two-dimensional drawing taken from the contralateral ear. Our laboratory has used 3D printers and open source software platforms to design personalized microtia surgical models. In this review, we report on the advancements in tissue engineering principles, digital imaging software platforms and 3D printing that have culminated in the application of this technology to repair large bone defects in skeletally immature transitional models and provide in-house manufactured, sterilizable patient-specific models for craniofacial reconstruction. © 2018 Wiley Periodicals, Inc.

  14. The bacteriology of children prior to 1st stage autologous ear reconstruction.

    PubMed

    Eley, Karen A; Gault, David T

    2010-12-01

    In virtually all surgical specialities the use of peri-operative antibiotic prophylaxis to minimise wound site infection is routine practice. Antibiotic selection is targeted towards the pathogens most commonly encountered at the surgical site. The surgical management of microtia is by autologous rib cartilage reconstruction, a process that involves at least two surgical stages. The pits and recesses of the microtia ear are difficult to clean and may shelter unusual pathogens not routinely found as skin commensals, requiring modified prophylaxis. This retrospective review of 37 patients undergoing 1st stage ear reconstruction, examines the pre-operative ear site, nose and throat swabs to determine the common pre-operative bacteria encountered in children prior to ear reconstruction, to aid in appropriate antibiotic selection. Copyright © 2010 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  15. 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

  16. 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 :

  17. 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.

  18. Application of the Vibrant Soundbridge in bilateral congenital atresia in toddlers.

    PubMed

    Frenzel, Henning; Hanke, Frauke; Beltrame, Millo; Wollenberg, Barbara

    2010-08-01

    The Vibrant Soundbridge offers an excellent audiologic rehabilitation for toddlers with microtia and atresia. It provides direct stimulation of the cochlea and straightforward adaption to the given anatomical structures. The 'posterior atresia incision' preserves the physical integrity of the tissue layers around the ear remnant, which is essential for an aesthetic auricular reconstruction. Patients with bilateral aural atresia require immediate auditory stimulation to ensure normal speech development. We present an operative technique that allows safe restoration of hearing before aesthetic reconstruction. A 6-year-old boy presented with bilateral microtia and osseous atresia. A hairline incision was performed through all layers and was followed by a subperiostal preparation towards the atresia plane. The fused malleus-incus-complex was removed and the transducer was crimped to the stapes suprastructure on both sides. Speech performance is nearly normal in both quiet and noise conditions. The surgery did not affect the tissues that are important for the later ear reconstruction.

  19. Use of a plastic eraser for ear reconstruction training.

    PubMed

    Erdogan, Basar; Morioka, Daichi; Hamada, Taishi; Kusano, Taro; Win, Khin Malar

    2018-01-01

    Microtia reconstruction is a challenging procedure, especially in developing nations. The most complex part is learning how to fabricate a framework from costal cartilage. We herein propose a training regimen for ear reconstruction with the use of a plastic eraser. The texture of a plastic eraser made from polyvinyl chloride is similar to that of human costal cartilage. The first step of the training is carving out the sixth through eighth rib cartilages from a block of plastic eraser. The second step is a fabrication of the framework from plastic rib cartilages, referring to a template from the intact auricle. As plastic erasers are inexpensive and universally available, inexperienced surgeons can repeatedly perform this framework training. Following several of these training sessions in developing nations, the co-authors and local surgeons successfully performed their microtia reconstructions in a reasonable operative time. This realistic carving model allows surgeons to gain experience before performing an actual ear reconstruction, even in resource-constrained circumstances.

  20. 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.

  1. CT measured normative cartilage growth in children requiring costochondral grafting.

    PubMed

    Andreoli, Steven M; Mills, Jared C; Kilpatrick, Lauren A; White, David R; Patel, Krishna G

    2013-12-01

    Careful operative timing is required for children undergoing microtia repair using autologous costochondral grafting. This operation is performed as early as age 6 in efforts to treat children before school matriculation while allowing for sufficient rib growth. There remains a paucity of data regarding cartilaginous growth of the ribs and synchondrosis routinely harvested during microtia repair. This study employs CT imaging to generate normative costochondral growth characteristics in children. A population-based study was performed. Tertiary care children's hospital. Chest CTs were reviewed in 360 children ages 3 to 20 years. Measurements included: length of ribs 6, 7, and 8 and the height and width of the synchondrosis between ribs 6 and 7. Growth charts are presented for gender and laterality. At age 6: ribs 6, 7, and 8 measure 5.96 ± 0.69, 7.79 ± 0.84, and 6.33 ± 1.01 cm, respectively. In adulthood the mean length of ribs 6, 7, and 8 are 8.29 ± 1.00, 11.10 ± 1.19, and 8.95 ± 1.99 cm, respectively. The vertical height of the synchondrosis at years 6 and 20 are 2.42 ± 0.39 and 3.59 ± 0.53 cm, respectively. Ribs 6, 7, and 8 as well as the synchondrosis grow in a nearly linear fashion. Cartilaginous growth of ribs 6 to 8 during early childhood is nearly linear. Synchondrosis height approaches adult auricle width at 8 years. Rib size is consistently larger in males and on the left side. These data are useful for the pediatric otolaryngologist and facial plastics and reconstructive surgeon performing microtia surgery.

  2. Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.

    PubMed

    Heike, Carrie L; Wallace, Erin; Speltz, Matthew L; Siebold, Babette; Werler, Martha M; Hing, Anne V; Birgfeld, Craig B; Collett, Brent R; Leroux, Brian G; Luquetti, Daniela V

    2016-11-01

    Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features. Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires. The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21). We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  3. 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.

  4. 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…

  5. Meier-Gorlin syndrome.

    PubMed

    de Munnik, Sonja A; Hoefsloot, Elisabeth H; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine V A M; Brunner, Han G; Jackson, Andrew P; Bongers, Ernie M H F

    2015-09-17

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased. Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.

  6. 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...

  7. 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...

  8. 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...

  9. 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...

  10. 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...

  11. 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.

  12. 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...

  13. 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

  14. Complete occipitalization of the atlas with bilateral external auditory canal atresia.

    PubMed

    Dolenšek, Janez; Cvetko, Erika; Snoj, Žiga; Meznaric, Marija

    2017-09-01

    Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation. It is commonly associated with the dysplasias of the structures derived from the first and second pharyngeal arches including microtia. We present the coexistence of the occipitalization of the atlas and congenital aural atresia, an uncommon combination of the paraxial mesodermal maldevelopment, and defects of cranial neural crest cells. The association is most probably syndromic as minimal diagnostic criteria for the oculoariculovertebral spectrum are fulfilled. From the clinical point of view, it is important to be aware that patients with microtia must obtain also appropriate diagnostic imaging studies of the craniovetebral junction due to eventual concomitant occipitalization of the atlas and frequently associated C1-C2 instability.

  15. Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

    PubMed

    Lamônica, Dionísia A C; Maximino, Luciana P; Feniman, Mariza Ribeiro; Silva, Greyce K; Zanchetta, Sthella; Abramides, Dagma V M; Passos-Bueno, Maria Rita; Rocha, Kátia; Richieri-Costa, Antonio

    2010-09-01

    To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction-amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed. TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures. We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.

  16. 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).

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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...

  3. 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.

  4. 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

  5. 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.

  6. 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.

  7. Surgical management of polyotia.

    PubMed

    Pan, Bo; Qie, Shuyan; Zhao, Yanyong; Tang, Xiaojun; Lin, Lin; Yang, Qinghua; Zhuang, Hongxing; Jiang, Haiyue

    2010-08-01

    Polyotia is an extremely rare type of congenital external ear malformation, which is defined as an accessory ear that is large enough to resemble an additional pinna. The terms 'mirror ear' or 'accessory ear' are sometime used. We present our methods in correcting this malformation and summarise the aetiology. The posterior part of the polyotia may presents with a normal ear, a constricted ear or a microtic ear. Free auricular composite tissue transplantation was used to correct the constricted ear. Ear reconstruction was applied in cases of microtia. The anterior auricle was mainly used to form the tragus. 7 cases polyotia were treated between 2004 and 2008. After free auricular composite tissue transplantation the size of the constricted ear and the contralateral ear was similar. In microtia cases the reconstructed ears were natural looking and had a satisfactory three-dimensional contour. The extra tissue of the anterior ear was excised and the tragus was reconstructed. Through operative intervention tailored to the individual case natural-looking and symmetric ears were acquired. The aetiology of polyotia probably relates to abnormal migration of neural crest cell. Copyright 2009 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  8. 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.

  9. A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.

    PubMed

    Duca, D; Pană, I; Ciovirnache, M; Simionesu, L; Ispas, I; Maxililian, C

    1981-01-01

    We reported an apparently previously undescribed syndrome, designated the coxoauricular syndrome, in a mother and her 3 daughters, all of whom shared in variable manner shortness of stature, minor vertebral and pelvic changes, dislocated hip(s), and microtia with corresponding hearing loss. The oldest daughter had coincidental Ullrich-Turner syndrome with 46, Xdel(X)(q 13) chromosome constitution. Inheritance of the trait in this family is dominant, either autosomal or X-linked, with hemizygote lethality.

  10. 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.

  11. 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...

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. 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...

  18. 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...

  19. 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...

  20. 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...

  1. 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...

  2. 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...

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. First branchial cleft sinus presenting with cholesteatoma and external auditory canal atresia.

    PubMed

    Yalçin, Sinasi; Karlidağ, Turgut; Kaygusuz, Irfan; Demirbağ, Erhan

    2003-07-01

    First branchial cleft abnormalities are rare. They may involve the external auditory canal and middle ear. We describe a 6-year-old girl with congenital external auditory canal atresia, microtia, and cholesteatoma of mastoid and middle ear in addition to the first branchial cleft abnormalities. Clinical features of the patient are briefly described and the embryological relationship between first branchial cleft anomaly and external auditory canal atresia is discussed. The surgical management of these lesions may be performed, both the complete excision of the sinus and reconstructive otologic surgery.

  9. Spectacle fitting with ear, nose and face deformities or abnormalities.

    PubMed

    Eng, Helen; Chiu, Roger Sin Fai

    2002-11-01

    Spectacle frame selection and dispensing remain significant components of optometry. Occasionally, we encounter patients who are unable to wear conventional spectacles due to abnormalities or deformities following injury and/or surgery to their nose, ears or head. In these cases, spectacle frame fitting may be more complex and customized frame adjustments may be required to account for the anatomical variations. A patient with a microtia (hypoplastic pinna) was fitted with a tailored spectacle frame. The details are presented together with a summary of different frames and modifications available for ears, nose and face abnormalities.

  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. 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.

  14. 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.

  15. [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.

  16. 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…

  17. The effects of acupressure on labor pains during child birth: randomized clinical trial.

    PubMed

    Mafetoni, Reginaldo Roque; Shimo, Antonieta Keiko Kakuda

    2016-08-08

    ções, por 20 minutos, e a intensidade da dor avaliada por meio de uma Escala Analógica Visual (EAV). as médias de dor pela EAV não foram diferentes nos três grupos na admissão (p-valor=0,0929), porém foram menores no grupo de acupressão imediatamente após (p-valor=<0,0001) e com 1 h do tratamento (p-valor=0,0001) ao se comparar com placebo e controle. a acupressão no ponto sanyinjiao se mostrou uma medida útil no alívio da dor, não invasiva e um meio de melhorar a qualidade dos cuidados a parturiente. Registro: RBR-9mhs8r. analizar los efectos de la acupresión, en el punto sanyinjiao, sobre el dolor en la fase activa del trabajo de parto, en embarazadas atendidas en maternidad pública. ensayo clínico controlado y aleatorio, simple ciego y de carácter pragmático. Fueron seleccionadas 156 mujeres con edad gestacional ≥ 37 semanas, dilatación cervical ≥ 4 cm y con dos o más contracciones en 10 minutos. Las embarazadas fueron divididas aleatoriamente en tres grupos en un hospital universitario del interior del estado de Sao Paulo, Brasil, para recibir acupresión, placebo o participar como control. La acupresión fue aplicada en el punto sanyinjiao durante las contracciones, por 20 minutos; la intensidad del dolor fue evaluada por medio de una Escala Analógica Visual (EAV). los promedios del dolor por la EAV no fueron diferentes en los tres grupos en la admisión (valor p=0,0929), sin embargo fueron menores en el grupo de acupresión inmediatamente después (valor p=<0,0001) y también después de 1 hora del tratamiento (valor p=0,0001) al compararse con el placebo y control. la acupresión en el punto sanyinjiao se mostró una medida útil en el alivio del dolor, no invasiva y un medio de mejorar la calidad de los cuidados la parturienta. Registro: RBR-9mhs8r.

  18. 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

  19. 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.

  20. [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.

  1. 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

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. 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

  9. 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.

  10. Treatment of unwanted hair in auricular reconstruction.

    PubMed

    Gault, David

    2009-08-01

    In many microtia patients, the hairline is lower than ideal. Despite this, it is essential to position the reconstructed ear in the correct place. Here is a series of tips and tricks to deal with unwanted hair on the skin that covers an autogenous tissue reconstruction. Replacement of the skin with a fascial flap and skin graft remains the mainstay of treatment for a very-low-hairline case. Surgical removal of hair on the helical rim during the release procedure is also described. Laser depilation, surgical electrolysis, and even shaving techniques are also discussed. Copyright Thieme Medical Publishers.

  11. 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

  12. 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.

  13. 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

  14. 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.

  15. 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

  16. 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.

  17. 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

  18. 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

  19. 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.

  20. 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.

  1. 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.

  2. [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.

  3. 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

  4. 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

  5. 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

  6. Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

    PubMed Central

    de Munnik, Sonja A; Bicknell, Louise S; Aftimos, Salim; Al-Aama, Jumana Y; van Bever, Yolande; Bober, Michael B; Clayton-Smith, Jill; Edrees, Alaa Y; Feingold, Murray; Fryer, Alan; van Hagen, Johanna M; Hennekam, Raoul C; Jansweijer, Maaike C E; Johnson, Diana; Kant, Sarina G; Opitz, John M; Ramadevi, A Radha; Reardon, Willie; Ross, Alison; Sarda, Pierre; Schrander-Stumpel, Constance T R M; Schoots, Jeroen; Temple, I Karen; Terhal, Paulien A; Toutain, Annick; Wise, Carol A; Wright, Michael; Skidmore, David L; Samuels, Mark E; Hoefsloot, Lies H; Knoers, Nine V A M; Brunner, Han G; Jackson, Andrew P; Bongers, Ernie M H F

    2012-01-01

    Meier–Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype–phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months–47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary hypoplasia (100%) and abnormal genitalia (42% predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1. A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype–phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and breast hypoplasia, though further studies in this patient group are needed. PMID:22333897

  7. Autosomal dominant transmission of a Goldenhar-like syndrome: Description of a family and report of a sporadic case with a de novo 4p16;8q24.11 translocation

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

    Graganm H.N. Jr.; Hixon, H.; Bacino, C.A.

    1994-09-01

    We report vertical transmission of a Goldenhar-like syndrome, including a father and 5 offspring, with male-to-male transmission and variable features that include hearing loss, ear anomalies (microtia, ear tags/pits), branchial cysts, ocular/periocular dermoids, micrognathia and seizures. We also report an individual with an apparently balanced de novo reciprocal translocation with breakpoints at 4p16 and 8q24.11. This individual has unilateral microtia, an epibulbar dermoid cyst, facial asymmetry with a small chin, and seizures. In addition to these features resembling those seen in the family above, she has multiple exostoses, supraventricular tachycardia, hypoglycemia and mild developmental delays. Based on the overlap inmore » physical findings between this family and the individual with the de novo reciprocal translocation, linkage studies on the family were intiated. Preliminary results exclude linkage to HOX 7 at 4p16.1 but not to 8q. The brancho-oto-renal syndrome has previously been localized to 8q11-8q13, but linkage to this region appears unlikely. Although most cases of Goldenhar syndrome appear to be sporadic, there are a few reports of autosomal dominant inheritance (MIM No. 164210). One such family showed vertical transmission of dermoids, ear anomalies, hearing loss, micrognathia and vertebral anomalies, but no branchial cysts. Another family showed sensorineural deafness, preauricular pits, and branchial fistulae, and other families reveal ear anomalies, branchial fistulas, and hearing loss. These latter families appear to lack ocular/periocular dermoids, and appear to be affected by a different disorder (MIM No. 125100). Further clinical delineation of such families, combined with genetic linkage analysis, should help to sort out this heterogeneity.« less

  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. Genetics Home Reference: congenital deafness with labyrinthine aplasia, microtia, and microdontia

    MedlinePlus

    ... Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk ... Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroğlu L, Incesulu A, Yüksel Konuk EB, Hasanefendioğlu ...

  10. 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.

  11. 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.

  12. 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

  13. 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

  14. First branchial cleft fistula associated with external auditory canal stenosis and middle ear cholesteatoma.

    PubMed

    Abdollahi Fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

    2014-10-01

    First branchial cleft anomalies manifest with duplication of the external auditory canal. This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear.

  15. 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.

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. 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...

  2. 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).

  3. 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.

  4. 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...

  5. 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...

  6. 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

  7. 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...

  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. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

    PubMed Central

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Bianca, Sebastiano; Doray, Berenice; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Queisser-Luft, Annette; Scarano, Gioacchino; Tucker, David

    2014-01-01

    Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990–2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder. PMID:24398798

  17. 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

  18. 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).

  19. 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.

  20. 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.

  1. 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.

  2. [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.

  3. 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

  4. First Branchial Cleft Fistula Associated with External Auditory Canal Stenosis and Middle Ear Cholesteatoma

    PubMed Central

    Abdollahi fakhim, Shahin; Naderpoor, Masoud; Mousaviagdas, Mehrnoosh

    2014-01-01

    Introduction: First branchial cleft anomalies manifest with duplication of the external auditory canal. Case Report: This report features a rare case of microtia and congenital middle ear and canal cholesteatoma with first branchial fistula. External auditory canal stenosis was complicated by middle ear and external canal cholesteatoma, but branchial fistula, opening in the zygomatic root and a sinus in the helical root, may explain this feature. A canal wall down mastoidectomy with canaloplasty and wide meatoplasty was performed. The branchial cleft was excised through parotidectomy and facial nerve dissection. Conclusion: It should be considered that canal stenosis in such cases can induce cholesteatoma formation in the auditory canal and middle ear. PMID:25320705

  5. Oculoauriculovertebral spectrum with radial anomaly in child.

    PubMed

    Taksande, Amar; Vilhekar, Krishna

    2013-01-01

    Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. 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.

  15. An Alternative Posterosuperior Auricular Fascia Flap for Ear Elevation During Microtia Reconstruction.

    PubMed

    Li, Yiyuan; Zhang, Ruhong; Zhang, Qun; Xu, Zhicheng; Xu, Feng; Li, Datao

    2017-02-01

    Advances in staged total auricular reconstruction have resulted in improved anterior auricular appearance; however, satisfactory postreconstruction esthetics of the retroauricular fold remain challenging. The postauricular appearance of the reconstructed ear depends largely upon optimizing the covering material. When used as the covering soft tissue for ear elevation, a flap containing primarily the upper portion of the retroauricular fascia has potential advantages over the conventional book cover-type retroauricular fascia flap. We developed a geometrically designed, posterosuperior auricular fascia flap to replace the conventional retroauricular fascia flap for ear elevation. During the second-stage operation, the posterosuperior auricular fascia flap is rotated downward and turned over to wrap around the inner strut and entire posterior auricular surface. Compared to the conventional book cover-type retroauricular fascia flap, the novel posterosuperior auricular fascia flap was easier to harvest and the operative time significantly decreased (110.3 vs. 121.5 min, p < 0.01). The modified flap produced a thin and natural contour of the postauricular surface, as well as reduced the incidence of postauricular hypertrophic scarring (from 24.7 to 13.2%, p = 0.03) and partial skin graft necrosis (from 43.4 to 31.2%, p = 0.01). The geometrically designed posterosuperior auricular fascia flap improves ear elevation. Compared to the conventional book cover-type retroauricular fascia flap, this covering tissue is easier to perform so the surgical time is decreased. It was highly vascularized, well defined, thinner, and yields reliable results. Thus, favorable postauricular surface results can be achieved during auricular reconstruction by using the modified fascia flap. This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

  16. 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

  17. 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

  18. [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.

  19. 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).

  20. [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

  1. 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.

  2. 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

  3. 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.

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. 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

  9. 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

  10. 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

  11. 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.

  12. [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.

  13. 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.

  14. 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

  15. 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).

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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.

  2. 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

  3. 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...

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. [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.

  9. 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.

  10. 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

  11. 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

  12. 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

  13. 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.

  14. [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.

  15. 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

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. 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.

  1. 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

  2. 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...

  3. 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.

  4. 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.

  5. Cartilage engineering using chondrocyte cell sheets and its application in reconstruction of microtia.

    PubMed

    Zhou, Libin; Ding, Ruiying; Li, Baowei; Han, Haolun; Wang, Hongnan; Wang, Gang; Xu, Bingxin; Zhai, Suoqiang; Wu, Wei

    2015-01-01

    The imperfections of scaffold materials have hindered the clinical application of cartilage tissue engineering. The recently developed cell-sheet technique is adopted to engineer tissues without scaffold materials, thus is considered being potentially able to overcome the problems concerning the scaffold imperfections. This study constructed monolayer and bilayer chondrocyte cell sheets and harvested the sheets with cell scraper instead of temperature-responsive culture dishes. The properties of the cultured chondrocyte cell sheets and the feasibility of cartilage engineering using the chondrocyte cell sheets was further investigated via in vitro and in vivo study. Primary extracellular matrix (ECM) formation and type II collagen expression was detected in the cell sheets during in vitro culture. After implanted into nude mice for 8 weeks, mature cartilage discs were harvested. The morphology of newly formed cartilage was similar in the constructs originated from monolayer and bilayer chondrocyte cell sheet. The chondrocytes were located within evenly distributed ovoid lacunae. Robust ECM formation and intense expression of type II collagen was observed surrounding the evenly distributed chondrocytes in the neocartilages. Biochemical analysis showed that the DNA contents of the neocartilages were higher than native human costal cartilage; while the contents of the main component of ECM, glycosaminoglycan and hydroxyproline, were similar to native human costal cartilage. In conclusion, the chondrocyte cell sheet constructed using the simple and low-cost technique is basically the same with the cell sheet cultured and harvested in temperature-responsive culture dishes, and can be used for cartilage tissue engineering.

  6. 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.

  7. [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.

  8. 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...

  9. 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…

  10. 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.

  11. [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.

  12. 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

  13. 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

  14. 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.

  15. [Analysis of psychosocial changes following ear reconstruction with rib cartilage - development of a short test].

    PubMed

    Steffen, A; Meyer Zu Natrup, C; König, I R; Frenzel, H; Rotter, N

    2009-04-01

    The improvement of psychosocial well being in patients with microtia after ear reconstruction with rib cartilage is mainly assessed clinically. There are first prospective studies with established psychological questionnaires showing promising results but these tests are too extensive for everyday-use in clinical routine. Therefore, we examined a self-designed short version for the specific use in the head-neck-region. The clinically established psychological questionnaire "Frankfurter Selbstkonzeptskalen/FSKN" consists of 78 items for self-assessment of performance abilities, self-esteem, and psychosocial attitude. We downsized the FSKN to 13 items that might be relevant for plastic reconstructive surgery in the head-neck-region. The pre- and postoperative development after ear reconstruction with rib cartilage was analyzed retrospectively in 68 patients and prospectively in 21 patients. The preoperative data of the prospective study group were compared with the results of 23 patients with microtia who declined any type of reconstruction after consultation. Especially the results of the psychosocial competence improved after ear reconstruction as well in the retrospective (median values 138,5 to points; p<0,01) as well as in the prospective study group (median values 126 to 141 points; p=0,01). We were able to demonstrate changes in the short version of the FSKN (median values 51,5 to 58,5 points; p<0,01 respectively, 50 to 56 points; p=0,02). Patients who declined ear surgery showed higher values in psychosocial competence (median values 126 to 154 points; p<0,01). Again, the short form displayed this difference clearly (median values 50 to 65 points; p<0,01). The short version of the FSKN has promising potential for the preoperative assessment and the documentation of psychological changes following reconstructive surgery. Further studies are necessary to validate the new instrument to obtain a valuable test for use in clinical routine in plastic surgery in the

  16. Inverted u-shaped purse and rotation flaps: correcting the inferoposterior deformity of reconstructed ears after canaloplasty of the external auditory meatus.

    PubMed

    Ji, Chenyang; Zhang, Jinming; An, Geng; Liang, Weiqiang; Pan, Shujuan; Chen, Yuhong; Wei, Zhe; Zhang, Ganlin

    2012-06-01

    After patients with congenital microtia receive external ear canal plasty, the mastoid area usually has insufficient space for ear reconstruction. Hence, after ear reconstruction, an inferoposterior position deformity of the ear appears to some extent. Using inverted U-shaped purse and rotation flaps can correct this deformity effectively. From May of 2009 to September of 2011, five patients received the described procedures in the authors' department. Inverted U-shaped purse and rotation flaps were used for all the patients. The inverted U-shaped purse flap was used to reduce the area of the canal orifice and to lower the position, and the rotation flap was applied to turn the ear in a more superoposterior position. Two patients also received full-thickness skin grafting to cover the secondary wound. In four patients, V-Y-plasty or Z-plasty was used to adjust the flap transition. For the five patients, the distances between the ear antihelix and canal orifice were shortened, and the areas of the canal orifice were diminished. The retroversion of the auricle was corrected in various degrees, and the angles of the long axis of the auricle and the horizontal line were increased an average of 14.4°. The vertical distance between the top of the helix and the center of the canal orifice was increased an average of 15.2 mm. A slight dog ear deformity in front of the crus of the helix was left after the operation, but it was alleviated in the follow-up period. By using inverted U-shaped purse and rotation flaps, the inferoposterior position deformity of the reconstructed ear after external ear canal plasty in congenital microtia can be resolved effectively. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors http://www.springer.com/00266.

  17. 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.

  18. 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.

  19. 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.

  20. 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).

  1. 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.

  2. 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

  3. 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.

  4. 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…

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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

  12. 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}}.

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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

  3. 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.

  4. 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

  5. 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.

  6. 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

  7. 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.

  8. [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.

  9. 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.

  10. 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.

  11. 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.

  12. 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

  13. 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.

  14. 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

  15. 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

  16. 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.

  17. 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

  18. [The research progress of Treacher Collins syndrome].

    PubMed

    Wang, Pu; Fan, Xinmiao; Fan, Yue

    2016-02-01

    Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vibrant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, diagnosis, genetics, management and auditory rehabilitation.

  19. Complications after Total Porous Implant Ear Reconstruction and Their Management.

    PubMed

    Lewin, Sheryl

    2015-12-01

    Microtia reconstruction using porous polyethylene implants has become an established alternative to autologous costal cartilage techniques. Few surgeons are trained in porous implant ear reconstruction (PIER), leading to a relative lack of understanding of the nuances of this type of surgery. The risks of exposure, infection, and fracture of the implant have further discouraged surgeons from performing PIERs. Meticulous technique and proper management of complications are critical to the success of surgeries involving porous implants (Medpor, Su-Por). There are a limited number of articles in the literature that report the management of complications of porous implant auricular reconstruction. The purpose of this work is to present a comprehensive review of the management of complications with PIER based on over 10 years of experience with this surgical technique. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  20. 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.

  1. 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.

  2. 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.

  3. 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...

  4. 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.

  5. 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).

  6. 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...

  7. 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...

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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…

  15. 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

  16. "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.

  17. 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…

  18. 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...

  19. 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...

  20. 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.

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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.

  6. 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

  7. 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.

  8. 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

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. 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.

  16. Neonatal Ear Molding: Timing and Technique.

    PubMed

    Anstadt, Erin Elizabeth; Johns, Dana Nicole; Kwok, Alvin Chi-Ming; Siddiqi, Faizi; Gociman, Barbu

    2016-03-01

    The incidence of auricular deformities is believed to be ∼11.5 per 10,000 births, excluding children with microtia. Although not life-threatening, auricular deformities can cause undue distress for patients and their families. Although surgical procedures have traditionally been used to reconstruct congenital auricular deformities, ear molding has been gaining acceptance as an efficacious, noninvasive alternative for the treatment of newborns with ear deformations. We present the successful correction of bilateral Stahl's ear deformity in a newborn through a straightforward, nonsurgical method implemented on the first day of life. The aim of this report is to make pediatric practitioners aware of an effective and simple molding technique appropriate for correction of congenital auricular anomalies. In addition, it stresses the importance of very early initiation of ear cartilage molding for achieving the desired outcome. Copyright © 2016 by the American Academy of Pediatrics.

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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

  5. Spatial and temporal constraints on regional-scale groundwater flow in the Pampa del Tamarugal Basin, Atacama Desert, Chile

    NASA Astrophysics Data System (ADS)

    Jayne, Richard S.; Pollyea, Ryan M.; Dodd, Justin P.; Olson, Elizabeth J.; Swanson, Susan K.

    2016-12-01

    Aquifers within the Pampa del Tamarugal Basin (Atacama Desert, northern Chile) are the sole source of water for the coastal city of Iquique and the economically important mining industry. Despite this, the regional groundwater system remains poorly understood. Although it is widely accepted that aquifer recharge originates as precipitation in the Altiplano and Andean Cordillera to the east, there remains debate on whether recharge is driven primarily by near-surface groundwater flow in response to periodic flood events or by basal groundwater flux through deep-seated basin fractures. In addressing this debate, the present study quantifies spatial and temporal variability in regional-scale groundwater flow paths at 20.5°S latitude by combining a two-dimensional model of groundwater and heat flow with field observations and δ18O isotope values in surface water and groundwater. Results suggest that both previously proposed aquifer recharge mechanisms are likely influencing aquifers within the Pampa del Tamarugal Basin; however, each mechanism is operating on different spatial and temporal scales. Storm-driven flood events in the Altiplano readily transmit groundwater to the eastern Pampa del Tamarugal Basin through near-surface groundwater flow on short time scales, e.g., 100-101 years, but these effects are likely isolated to aquifers in the eastern third of the basin. In addition, this study illustrates a physical mechanism for groundwater originating in the eastern highlands to recharge aquifers and salars in the western Pampa del Tamarugal Basin over timescales of 104-105 years.

  6. The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.

    PubMed

    Cenarro, Ana; Etxebarria, Aitor; de Castro-Orós, Isabel; Stef, Marianne; Bea, Ana M; Palacios, Lourdes; Mateo-Gallego, Rocío; Benito-Vicente, Asier; Ostolaza, Helena; Tejedor, Teresa; Martín, César; Civeira, Fernando

    2016-05-01

    The p.Leu167del mutation in the APOE gene has been associated with hyperlipidemia. Our objective was to determine the frequency of p.Leu167del mutation in APOE gene in subjects with autosomal dominant hypercholesterolemia (ADH) in whom LDLR, APOB, and PCSK9 mutations had been excluded and to identify the mechanisms by which this mutant apo E causes hypercholesterolemia. The APOE gene was analyzed in a case-control study. The study was conducted at a University Hospital Lipid Clinic. Two groups (ADH, 288 patients; control, 220 normolipidemic subjects) were included. We performed sequencing of APOE gene and proteomic and cellular experiments. To determine the frequency of the p.Leu167del mutation and the mechanism by which it causes hypercholesterolemia. In the ADH group, nine subjects (3.1%) were carriers of the APOE c.500_502delTCC, p.Leu167del mutation, cosegregating with hypercholesterolemia in studied families. Proteomic quantification of wild-type and mutant apo E in very low-density lipoprotein (VLDL) from carrier subjects revealed that apo E3 is almost a 5-fold increase compared to mutant apo E. Cultured cell studies revealed that VLDL from mutation carriers had a significantly higher uptake by HepG2 and THP-1 cells compared to VLDL from subjects with E3/E3 or E2/E2 genotypes. Transcriptional down-regulation of LDLR was also confirmed. p.Leu167del mutation in APOE gene is the cause of hypercholesterolemia in the 3.1% of our ADH subjects without LDLR, APOB, and PCSK9 mutations. The mechanism by which this mutation is associated to ADH is that VLDL carrying the mutant apo E produces LDLR down-regulation, thereby raising plasma low-density lipoprotein cholesterol levels.

  7. On the first occupational medicine initiatives in Mexico: The Real del Monte miners’ hospital.

    PubMed

    Gómez, José Luis; Rodríguez-Paz, Carlos Agustín

    2018-01-01

    Despite the legislation of Otto von Bismarck (1815-1898) on social security rights formulated in 1883 in Germany where it is stated that it is the duty of the State to promote the welfare of all members of society, particularly the weakest and most needy, using the means available to them, and the proposals of laws against accidents issued on April 30, 1904 in the State of Mexico in 1904, in the Mexico of the Porfirio Díaz era, providing workers with formal medical care was not contemplated, except in the case of some railway companies, hospitals for the care of patients with occupational diseases were not built. One of these exceptions was the Hospital del Mineral del Real del Monte de Pachuca, founded in the late nineteenth century and after the mining company passed to the Americans in 1906, it was agreed that the company acquired the hospital and equated it with the medical and surgical advances of the time for immediate care of injuries, especially of the orthopedic type, which enabled not only the healing of wounds, but also rehabilitation. This hospital is one of the oldest in Mexico with regard to three disciplines: orthopedics, occupational medicine and rehabilitation. It ceased to operate in 1982, and currently it is a museum with a rich collection of documents and instruments related to the aforementioned disciplines. Copyright: © 2018 SecretarÍa de Salud.

  8. X-ray detection of Nova Del 2013 with Swift

    NASA Astrophysics Data System (ADS)

    Castro-Tirado, Alberto J.; Martin-Carrillo, Antonio; Hanlon, Lorraine

    2013-08-01

    Continuous X-ray monitoring by Swift of Nova Del 2013 (see CBET #3628) shows an increase of X-ray emission at the source location compared to previous observations (ATEL #5283, ATEL #5305) during a 3.9 ksec observation at UT 2013-08-22 12:05. With the XRT instrument operating in window timing mode, 744 counts were extracted from a 50 pixel long source region and 324 counts from a similar box for a background region, resulting in a 13-sigma detection with a net count rate of 0.11±0.008 counts/sec.

  9. Evaporación dinámica del cinturón de asteroides original

    NASA Astrophysics Data System (ADS)

    Brunini, A.

    Hemos integrado numéricamente un enjambre de 3000 partículas en la región del cinturón de asteroides, sujetas a las perturbaciones gravitatorias de Júpiter y Saturno. Al cabo de 107 años, se han formado ya todos los gaps de Kirkwood observados en el cinturón actual. El grupo en la resonancia 3/2 es, aunque en menor grado, también visible. Los tiempos de Lyapunov computados para los asteroides sobrevivientes, nos ha permitido encontrar la fracción de ellos que es capaz de sobrevivir por toda la edad del sistema solar, merced a la aplicacion de la relación empírica que vincula dichos tiempos al tiempo en el cual se manifiestan grandes transiciones orbitales. La fracción de supervivientes es de aproximadamente 1/100. El resto de la masa faltante en el cinturón, es atribuible a colisiones catastróficas con cometas en etapas primordiales.

  10. 3. 1939 DROP STRUCTURE IN DEL MAR PARK SURMOUNTED BY ...

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

    3. 1939 DROP STRUCTURE IN DEL MAR PARK SURMOUNTED BY RECENT PEDESTRIAN BRIDGE. - 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

  11. Discovering research value in the Campo del Cielo, Argentina, meteorite craters

    NASA Astrophysics Data System (ADS)

    Cassidy, William A.; Renard, Marc L.

    1996-07-01

    The Campo del Cielo meteorite crater field in Argentina contains at least 20 small meteorite craters, but a recent review of the field data and a remote sensing study suggest that there may be more. The fall occurred ˜4000 years ago into a uniform loessy soil, and the craters are well enough preserved so that some of their parameters of impact can be determined after excavation. The craters were formed by multi-ton fragments of a type IA meteoroid with abundant silicate inclusions. Relative to the horizontal, the angle of infall was ˜9°. Reflecting the low angle of infall, the crater field is elongated with apparent dimensions of 3 × 18.5 km. The largest craters are near the center of this ellipse. This suggests that when the parent meteoroid broke apart, the resulting fragments diverged from the original trajectory in inverse relation to their masses and did not undergo size sorting due to atmospheric deceleration. The major axis of the crater field as we know it extends along N63°E, but the azimuths of infall determined by excavation of Craters 9 and 10 are N83.5°E and N75.5°E, respectively. This suggests that the major axis of the crater field is not yet well determined. The three or four largest craters appear to have been formed by impacts that disrupted the projectiles, scattering fragments around the outsides of the craters and leaving no large masses within them; these are relatively symmetrical in shape. Other craters are elongated features with multi-ton masses preserved within them and no fragmentation products outside. There are two ways in which field research on the Campo del Cielo crater field is found to be useful. (1) Studies exist that have been used to interpret impact craters on planetary surfaces other than the Earth. This occurrence of a swarm of projectiles impacting at known angles and similar velocities into a uniform target material provides an excellent field site at which to test the applicability of those studies. (2) Individual

  12. Desarrollo de un instrumento para medir percepciones sobre el contexto de construccion del conocimiento cientifico de estudiantes universitarios de nuevo ingreso

    NASA Astrophysics Data System (ADS)

    Garcia-Ramirez, Jaime Antonio

    En esta investigacion, se desarrollo un instrumento que permite medir percepciones relacionadas al contexto de constriccion del conocimiento cientifico. Se examinaron instrumentos existentes y se encontro que el VOSTS (Views on science, technology, and society), instrumento desarrollado empiricamente en Canada por Aikenhead, Ryan y Fleming, podia traducirse y validarse en el contexto cultural puertorriqueno. El instrumento es extenso, consta de 113 reactivos, cada uno con una premisa basica relacionada a la tematica ciencia, tecnologia y sociedad y un numero de alternativas relacionadas a la premisa que oscila entre siete y trece. Se delimito su utilizacion a los quince reactivos identificados por los autores como relacionados a la construccion social del conocimiento cientifico. Metodologicamente, se procedio a utilizar el modelo de adaptacion intercultural, que permite que el instrumento desarrollado satisfaga las dimensiones de equivalencia semantica, de contenido, tecnica, de criterio y conceptual, atemperado asi al instrumento original. Se cumplio con este proposito mediante la traduccion de la version original en ingles al espanol y viceversa. Se utilizaron comites para examinar la traduccion y la retro-traduccion del instrumento. Se realizo una prueba piloto con estudiantes universitarios de nuevo ingreso, utilizando el instrumento traducido para asegurar su intelegibilidad. La confiabilidad del instrumento se determino mediante la intervencion de un panel de expertos quienes clasificaron las distintas posiciones dentro de cada reactivo en: realista, con merito e ingenua; se transformaron estas opciones en valores numericos lo que permitio establecer una escala Likert para cada una. Se suministro el instrumento a una muestra de estudiantes universitarios de nuevo ingreso con caracteristicas similares a las de la poblacion puertorriquena en cuanto a ejecucion en las pruebas de aptitud verbal y matematica del College Board. Los resultados de sus contestaciones

  13. Guía para la evaluación del riesgo de los polinizadores

    EPA Pesticide Factsheets

    La Guía para la evaluación del riesgo de los polinizadores de la EPA es parte de una estrategia de la evaluación de los riesgos que presentan los pesticidas para las abejas a fin de mejorar la protección de los polinizadores.

  14. ATMOSPHERIC VOLATILE ORGANIC COMPOUND MEASUREMENTS DURING THE 1996 PASO DEL NORTE OZONE STUDY

    EPA Science Inventory

    Ambient air VOC samples were collected at surface air quality monitoring sites, near sources of interest, and aloft on the US (El Paso) and Mexican (Ciudad Juarez) side of the border during a six-week period of the 1996 Paso del Norte Ozone Study. Samples were collected at five...

  15. Ozone studies in the Paso del Norte region

    NASA Astrophysics Data System (ADS)

    Becerra-Davila, Fernando

    The Paso del Norte region forms the largest contiguous bi-national conglomerate on the US-Mexico border. With a combined population of around 2 million inhabitants, the Paso del Norte region is isolated, more than 500 km away from the nearest urban area of comparable size, thus making it an ideal location for air quality studies of an isolated urban environment. The meteorological conditions leading to a high ozone episode in this region, such as the historical ozone episode of June 2006, are analyzed. It is well known that stagnation and minimal winds, high temperatures, and pressure ridges over the region are conducive to high ozone episodes. In addition, the planetary boundary height is studied to understand its impact on high ozone episodes. Several studies report that ground level ozone non-attainment regulations could be caused not only by local emissions, but also by atmospheric transport. In this work the atmospheric advection of pollutants into the region is analyzed using HYSPLIT backward trajectories. Furthermore, a novel backward trajectory clustering technique is implemented for the summer of 2006. The "ozone weekend effect" (OWE) is a phenomenon by which in some geographical regions ambient ozone concentrations tend to be higher on weekends than on weekdays, despite the lower emissions of ozone precursors during those days. The observed local OWE has never previously been studied in terms of the photolysis rates of four of the main ozone precursors. In this research a novel method that allows the calculation of actinic fluxes, photolysis frequencies and photolysis rates with a high degree of accuracy and reliability has been developed. This method utilizes a combination of the experimental data available for this region in conjunction with a radiative transfer model (TUV model). Three weekend-weekday cases during summers 2006, 2009 and 2010 are studied in this work. In this research, the photolysis impact on the local OWE is studied. The results

  16. [Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer].

    PubMed

    Seemanová, Eva; Hoch, Jirí; Seeman, Pavel

    2011-01-01

    Nijmegen breakage syndrome (NBS) is one of the chromosomal instability syndromes due to DNA repair disorder. The syndrome is autosomal recessive determined, in homozygotes is characterized by many disorders including high predisposition to lymphoreticular malignancy in childhood and adolescence. Laboratory findings represent low level of immunoglobulins, B and T lymphocytes, increased sensitivity to the mutagens, especially hyperradiosensitivity and increased chromosomal instability. Heterozygotes show also elevated radiosensitivity and have an increased cancer risk in adult age. There is no predilection of the malignancy. Colorectal cancer was found often among the relatives of patients with NBS. Majority of the NBS patients are of the Central and Eastern European origin and carry the common founder mutation 657del5 in the NBN gene. The formation of second malignancy both in homozygotes and heterozygotes can be prevented by excluding any radiation. The aim of study is estimation of frequency of 657del5 heterozygotes among patients with colorectal cancer. Within a group of 161 patients with colorectal cancer 5 heterozygotes with 657del5 mutation were registered, e.g. 5-times higher incidence than expected. The elemental prevention in patients with proved positivity of Slavic mutation in NBN gene is to exclude any radiation.

  17. MICROTIA AND HEARING DEFICITS IN CD-1 MICE FOLLOWING GESTATIONAL EXPOSURE TO ETHANE DIMETHANESULFONATE (EDS)

    EPA Science Inventory

    TARKA1,2, D.K., G.R. KLINEFELTER1,2, D.W. HERR3, and J.M. ROGERS 1,2. 1University of North Carolina, School of Medicine, Curriculum in Toxicology, Chapel Hill, North Carolina; and USEPA, NHEERL, 2Reproductive Toxicology Division and 3Neurotoxicology Division, Research Triangle Pa...

  18. Highly efficient and exact method for parallelization of grid-based algorithms and its implementation in DelPhi

    PubMed Central

    Li, Chuan; Li, Lin; Zhang, Jie; Alexov, Emil

    2012-01-01

    The Gauss-Seidel method is a standard iterative numerical method widely used to solve a system of equations and, in general, is more efficient comparing to other iterative methods, such as the Jacobi method. However, standard implementation of the Gauss-Seidel method restricts its utilization in parallel computing due to its requirement of using updated neighboring values (i.e., in current iteration) as soon as they are available. Here we report an efficient and exact (not requiring assumptions) method to parallelize iterations and to reduce the computational time as a linear/nearly linear function of the number of CPUs. In contrast to other existing solutions, our method does not require any assumptions and is equally applicable for solving linear and nonlinear equations. This approach is implemented in the DelPhi program, which is a finite difference Poisson-Boltzmann equation solver to model electrostatics in molecular biology. This development makes the iterative procedure on obtaining the electrostatic potential distribution in the parallelized DelPhi several folds faster than that in the serial code. Further we demonstrate the advantages of the new parallelized DelPhi by computing the electrostatic potential and the corresponding energies of large supramolecular structures. PMID:22674480

  19. Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study.

    PubMed

    Zhang, Shiyu; Phelan, Catherine M; Zhang, Phil; Rousseau, Francois; Ghadirian, Parviz; Robidoux, Andre; Foulkes, William; Hamel, Nancy; McCready, David; Trudeau, Maureen; Lynch, Henry; Horsman, Douglas; De Matsuda, Maria Lourdes Leon; Aziz, Zeba; Gomes, Magda; Costa, Mauricio Magalhaes; Liede, Alexander; Poll, Aletta; Sun, Ping; Narod, Steven A

    2008-04-01

    A founder allele in the CHEK2 gene (1100delC) has been associated with an elevated risk of breast cancer. This allele is responsible for the majority of CHEK2-associated breast cancers in women from northern European countries; however, within Europe, it seems to be rare in countries that are close to the Mediterranean. The frequency of the 1100delC allele has not been measured in non-White populations. We measured the frequency of the CHEK2 founder allele in 3,882 breast cancer patients and 8,609 controls from various countries. The allele was not seen among Asian patients (from Pakistan or the Philippines) and was present in 1 of 155 cases from Brazil. Among White women, the allele was present in 1.5% of 825 familial cases of breast cancer and in 0.7% of 1,106 patients with nonfamilial breast cancer. The allele was equally frequent in Jewish and non-Jewish patients. We estimate that the CHEK2 1100delC allele is associated with an odds ratio of 2.6 for breast cancer, which corresponds to a lifetime risk of approximately 24% in Ontario.

  20. En cumplimiento con la orden ejecutiva del presidente Trump sobre la Independencia Energética

    EPA Pesticide Factsheets

    Acciones reglamentarias tomadas por la EPA, incluyendo audiencias públicas, para implementar la Orden Ejecutiva sobre la Independencia Energética y la propuesta derogación del Plan de Energía Limpia.

  1. Application of the Angular Overlap Model to Lanthanide Phthalocyanines (Aplicacion Del Modelo de Traslape Angular a Ftalocinaninas de Lantanidos)

    DTIC Science & Technology

    1989-07-15

    metilicos. Esto trae a la teoria del campo ligante el concepto de grupos funcionales. En este trabajo se us6 el enfoque del MTA desarrollado por...susceptibilidades magne’ticas se hizo de acuerdo a la teoria de perturbaciones usando la ecuacio’n de Van Vleckc. Es importante recordar que a pesar de...en el anillo pirrolico la deslocalizacio’n en el grupo imina es peque? a, y el sistema no se altera mucho debido a la donaci6n W. A partir de lus

  2. Impact of the F508del mutation on ovine CFTR, a Cl− channel with enhanced conductance and ATP-dependent gating

    PubMed Central

    Cai, Zhiwei; Palmai-Pallag, Timea; Khuituan, Pissared; Mutolo, Michael J; Boinot, Clément; Liu, Beihui; Scott-Ward, Toby S; Callebaut, Isabelle; Harris, Ann; Sheppard, David N

    2015-01-01

    Cross-species comparative studies are a powerful approach to understanding the epithelial Cl− channel cystic fibrosis transmembrane conductance regulator (CFTR), which is defective in the genetic disease cystic fibrosis (CF). Here, we investigate the single-channel behaviour of ovine CFTR and the impact of the most common CF mutation, F508del-CFTR, using excised inside-out membrane patches from transiently transfected CHO cells. Like human CFTR, ovine CFTR formed a weakly inwardly rectifying Cl− channel regulated by PKA-dependent phosphorylation, inhibited by the open-channel blocker glibenclamide. However, for three reasons, ovine CFTR was noticeably more active than human CFTR. First, single-channel conductance was increased. Second, open probability was augmented because the frequency and duration of channel openings were increased. Third, with enhanced affinity and efficacy, ATP more strongly stimulated ovine CFTR channel gating. Consistent with these data, the CFTR modulator phloxine B failed to potentiate ovine CFTR Cl− currents. Similar to its impact on human CFTR, the F508del mutation caused a temperature-sensitive folding defect, which disrupted ovine CFTR protein processing and reduced membrane stability. However, the F508del mutation had reduced impact on ovine CFTR channel gating in contrast to its marked effects on human CFTR. We conclude that ovine CFTR forms a regulated Cl− channel with enhanced conductance and ATP-dependent channel gating. This phylogenetic analysis of CFTR structure and function demonstrates that subtle changes in structure have pronounced effects on channel function and the consequences of the CF mutation F508del. Key points Malfunction of the cystic fibrosis transmembrane conductance regulator (CFTR), a gated pathway for chloride movement, causes the common life-shortening genetic disease cystic fibrosis (CF). Towards the development of a sheep model of CF, we have investigated the function of sheep CFTR. We found that

  3. The USH2A c.2299delG mutation: dating its common origin in a Southern European population

    PubMed Central

    Aller, Elena; Larrieu, Lise; Jaijo, Teresa; Baux, David; Espinós, Carmen; González-Candelas, Fernando; Nájera, Carmen; Palau, Francesc; Claustres, Mireille; Roux, Anne-Françoise; Millán, José M

    2010-01-01

    Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of an interactome that has an essential role in the development and function of inner ear hair cells and photoreceptors. The gene contains 72 exons spanning over a region of 800 kb. Although numerous mutations have been described, the c.2299delG mutation is the most prevalent in several populations. Its ancestral origin was previously suggested after the identification of a common core haplotype restricted to 250 kb in the 5′ region that encodes the short usherin isoform. By extending the haplotype analysis over the 800 kb region of the USH2A gene with a total of 14 intragenic single nucleotide polymorphisms, we have been able to define 10 different c.2299delG haplotypes, showing high variability but preserving the previously described core haplotype. An exhaustive c.2299delG/control haplotype study suggests that the major source of variability in the USH2A gene is recombination. Furthermore, we have evidenced twice the amount of recombination hotspots located in the 500 kb region that covers the 3′ end of the gene, explaining the higher variability observed in this region when compared with the 250 kb of the 5′ region. Our data confirm the common ancestral origin of the c.2299delG mutation. PMID:20145675

  4. Outbreak of Paratyphoid Fever Among Naval Personnel in Peru (Brote de Fiebre Paratifoidea Entre Personal de la Marina Del Peru.)

    DTIC Science & Technology

    1992-01-01

    son menosde 2Okniquecaiusania nvar comun Cs la tifoidea cldsica producida por S parte de las infecciones hunanas La fiebre Isv’lht la parat-foidea. par...TITLE (Include Secunty Clasifi4tin) Brote de Fiebre Parutifoidea Entre Personal de la Marina del Peru 1.PERSON4AL AUTHORCS) Pazzagllia G; Wgnall FS...CLASSIFIATIO F THIS PAGE All othe~redmtons areobolete. ZINCLASSIITIED Best Avai~lable Copy BROTE Dl FIEBRE PARATIFOIDEA ENTRE PERSONAL DE1 LA MARINA DEL PERU G

  5. How the early voltage clamp studies of José del Castillo inform "modern" neuroscience.

    PubMed

    Zottoli, Steven J

    2012-10-01

    The description of ionic currents that flow across the membrane of the squid giant axon during an action potential sparked an interest in determining whether there were similar currents in vertebrates. The preparation of choice was the node of Ranvier in single myelinated fibers in frog. José del Castillo spent 3 years on the United States mainland from 1956 to 1959. During that time, he collaborated with Jerome Y. Lettvin and John W. Moore. I discuss how these individuals met one another and some of their scientific discoveries using the voltage clamp to study squid giant axons and frog nodes. Much of this work was conducted at the Marine Biological Laboratory in Woods Hole, MA, and I attempt to convey a sense of the unique scientific "melting pot" that existed at the Marine Biological Laboratory and the broader effect that del Castillo had on "modern" neuroscience.

  6. Potential forensic use of a 33 X-InDel panel in the Argentinean population.

    PubMed

    Caputo, Mariela; Amador, M A; Santos, S; Corach, D

    2017-01-01

    Polymorphic genetic markers located on the X chromosome might become a complement in particular forensic identification when the biological kinship are deficient. We analyzed forensic statistical parameters of 33 X-chromosome InDel polymorphisms in a sample of 320 individuals from Argentina. The X-chromosome InDel polymorphism (X-InDel) panel was amplified in a single multiplex PCR reaction. Hardy-Weinberg Equilibrium was determined in the female cohort, whereas the male cohort was used to calculate linkage disequilibrium (LD) tested by an extension of Fisher's exact test, D', and Chi-square values. Regarding LD, 15 markers were organized and grouped into six blocks containing two or three linked loci each, namely block I (MID356-MID357), block II (MID448804-MID3703-MID218), block III (MID3705-MID3706-MID304737), block IV (MID197147-MID3754), block V (MID3664-MID284601-MID103547), and block VI (MID3763-MID3728). The haplotype diversity was higher than 0.99 in all cases. Blocks III and VI showed the highest match probability in the studied population, whereas block II showed the lowest. The accumulated power of discrimination was 99.9999991 % in women and 99.9992925 % in men. The mean exclusion chance in trios and duos were 99.9891736 and 99.6099391 %, respectively. Since 15 markers are associated as haplotypic blocks, for a conservative treatment of the data, statistical evaluation should consider their haplotypic frequencies and the remaining 18 markers can be evaluated as independent loci.

  7. Aspetti deontologici e giuridici della Responsabilità professionale del chirurgo in Italia. Evoluzione storica a partire dal '900.

    PubMed

    Picardi, Nicola

    2018-01-01

    È pleonastico ricordare che ogni individuo raziocinante delle essere responsabile delle sue azioni: deve agire con la coscienza degli scopi che si propone evitando possibili conseguenze negative dei suoi atti. In ambito medico questo tipo di responsabilità è codificata con le norme della "deontologia". Per secoli l'arte terapeutica è stata praticata da individui dotati di una particolare vocazione ed una particolare cultura acquisita da Maestri dell'arte ancor prima che dalla propria esperienza, con nozioni di erboristeria e di elementari conoscenze anatomiche e di fisiologia, circondati da un'aura sacerdotale e da un rispetto derivante dal timore e dall'ammirazione per il coraggio e auspicabilmente dai successi, e facendo riferimento nell'occidente mediterraneo alle regole operative fissate nel Giuramento di Ippocrate, di significato tra il sacro ed il deontologico. Lo sviluppo delle tecniche anestesiologiche a partire dalla seconda metà dell'800 ha determinato l'ampliamento delle iniziative chirurgiche di tipo elettivo, a fianco con gli storici interventi in emergenza per la cura di lesioni traumatiche, ancor prima delle acquisizioni riguardanti le infezioni. Con l'espansione del campo di azione della chirurgia, le possibili complicanze ed i possibili insuccessi hanno fatto da contrappeso ai sentimenti di rispetto e di fiducia nei confronti dei chirurghi, giungendo a far assimilare in tali casi la loro opera quale causa all'origine di danni, provocati rientrando quindi nella categoria dei reati sottoposti alla Legge penale. Così, al termine deontologico di "responsabilità" valido per ogni iniziativa ed ogni professione, per i medici è venuto ad associarsi la qualifica di "professionale", con un significato di presunta colpevolezza. Da una parte le regole deontologiche si sono ampliate, ed hanno coinvolto direttamente il paziente nella fase decisionale delle terapie chirurgiche, formalizzate programmaticamente in moderni codici deontologici ed

  8. High genetic structure and low mitochondrial diversity in bottlenose dolphins of the Archipelago of Bocas del Toro, Panama: A population at risk?

    PubMed Central

    Tezanos-Pinto, Gabriela; Islas-Villanueva, Valentina; Correa-Cárdenas, Camilo A.

    2017-01-01

    The current conservation status of the bottlenose dolphin (Tursiops truncatus) under the IUCN is ‘least concern’. However, in the Caribbean, small and localized populations of the ‘inshore form’ may be at higher risk of extinction than the ‘worldwide distributed form’ due to a combination of factors including small population size, high site fidelity, genetic isolation, and range overlap with human activities. Here, we study the population genetic structure of bottlenose dolphins from the Archipelago of Bocas del Toro in Panama. This is a small population characterized by high site fidelity and is currently heavily-impacted by the local dolphin-watching industry. We collected skin tissue samples from 25 dolphins to study the genetic diversity and structure of this population. We amplified a portion of the mitochondrial Control Region (mtDNA-CR) and nine microsatellite loci. The mtDNA-CR analyses revealed that dolphins in Bocas del Toro belong to the ‘inshore form’, grouped with the Bahamas-Colombia-Cuba-Mexico population unit. They also possess a unique haplotype new for the Caribbean. The microsatellite data indicated that the Bocas del Toro dolphin population is highly structured, likely due to restricted movement patterns. Previous abundance estimates obtained with mark-recapture methods reported a small population of 80 dolphins (95% CI = 72–87), which is similar to the contemporary effective population size estimated in this study (Ne = 73 individuals; CI = 18.0 - ∞; 0.05). The combination of small population size, high degree of genetic isolation, and intense daily interactions with dolphin-watching boats puts the Bocas del Toro dolphin to at high risk of extinction. Despite national guidelines to regulate the dolphin-watching industry in Bocas del Toro and ongoing educational programs for tour operators, only in 2012 seven animals have died due to boat collisions. Our results suggest that the conservation status of bottlenose dolphins in

  9. General anesthetic octanol and related compounds activate wild-type and delF508 cystic fibrosis chloride channels

    PubMed Central

    Marcet, Brice; Becq, Frédéric; Norez, Caroline; Delmas, Patrick; Verrier, Bernard

    2004-01-01

    Cystic fibrosis transmembrane conductance regulator (CFTR) Cl− channel is defective during cystic fibrosis (CF). Activators of the CFTR Cl− channel may be useful for therapy of CF. Here, we demonstrate that a range of general anesthetics like normal-alkanols (n-alkanols) and related compounds can stimulate the Cl− channel activity of wild-type CFTR and delF508-CFTR mutant. The effects of n-alkanols like octanol on CFTR activity were measured by iodide (125I) efflux and patch-clamp techniques on three distinct cellular models: (1) CFTR-expressing Chinese hamster ovary cells, (2) human airway Calu-3 epithelial cells and (3) human airway JME/CF15 epithelial cells which express the delF508-CFTR mutant. Our data show for the first time that n-alkanols activate both wild-type CFTR and delF508-CFTR mutant. Octanol stimulated 125I efflux in a dose-dependent manner in CFTR-expressing cells (wild-type and delF508) but not in cell lines lacking CFTR. 125I efflux and Cl− currents induced by octanol were blocked by glibenclamide but insensitive to 4,4′-diisothiocyanatostilbene-2,2′-disulfonic acid, as expected for a CFTR Cl− current. CFTR activation by octanol was neither due to cell-to-cell uncoupling properties of octanol nor to an intracellular cAMP increase. CFTR activation by octanol requires phosphorylation by protein kinase-A (PKA) since it was prevented by H-89, a PKA inhibitor. n-Alkanols chain length was an important determinant for channel activation, with rank order of potencies: 1-heptanol<1-octanol<2-octanol<1-decanol. Our findings may be of valuable interest for developing novel therapeutic strategies for CF. PMID:14967738

  10. General anesthetic octanol and related compounds activate wild-type and delF508 cystic fibrosis chloride channels.

    PubMed

    Marcet, Brice; Becq, Frédéric; Norez, Caroline; Delmas, Patrick; Verrier, Bernard

    2004-03-01

    1. Cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel is defective during cystic fibrosis (CF). Activators of the CFTR Cl(-) channel may be useful for therapy of CF. Here, we demonstrate that a range of general anesthetics like normal-alkanols (n-alkanols) and related compounds can stimulate the Cl(-) channel activity of wild-type CFTR and delF508-CFTR mutant. 2. The effects of n-alkanols like octanol on CFTR activity were measured by iodide ((125)I) efflux and patch-clamp techniques on three distinct cellular models: (1). CFTR-expressing Chinese hamster ovary cells, (2). human airway Calu-3 epithelial cells and (3). human airway JME/CF15 epithelial cells which express the delF508-CFTR mutant. 3. Our data show for the first time that n-alkanols activate both wild-type CFTR and delF508-CFTR mutant. Octanol stimulated (125)I efflux in a dose-dependent manner in CFTR-expressing cells (wild-type and delF508) but not in cell lines lacking CFTR. (125)I efflux and Cl(-) currents induced by octanol were blocked by glibenclamide but insensitive to 4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid, as expected for a CFTR Cl(-) current. 4. CFTR activation by octanol was neither due to cell-to-cell uncoupling properties of octanol nor to an intracellular cAMP increase. CFTR activation by octanol requires phosphorylation by protein kinase-A (PKA) since it was prevented by H-89, a PKA inhibitor. 5. n-Alkanols chain length was an important determinant for channel activation, with rank order of potencies: 1-heptanol<1-octanol<2-octanol<1-decanol. Our findings may be of valuable interest for developing novel therapeutic strategies for CF.

  11. PREVENCIÓN DEL VIH/SIDA EN LOS CIRCUITOS DE LEVANTE HSH: UNA ASIGNATURA PENDIENTE1

    PubMed Central

    Barreda, Victoria; Carballo-Dieguez, Alex; Marone, Rubén; Balán, Iván; Pando, María Ángeles; Ávila, María Mercedes

    2011-01-01

    Resumen 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. PMID:21874154

  12. INCLUSIÓN DE LA ÉTICA Y BIOÉTICA EN LA FORMACIÓN DE PRE Y POSGRADO DEL CIRUJANO-DENTISTA EN PERÚ

    PubMed Central

    Rupaya, Carmen Rosa García

    2009-01-01

    Se revisan aspectos de la inclusión de la ética y bioética en la formación de pre y posgrado del cirujano-dentista en Perú. Desde el punto de vista de la formación del docente, se analiza la presencia de normatividad ética en la investigación científica que genera la universidad, así como los conocimientos y actitudes vinculados con la ética y bioética en la formación del odontólogo. Se concluye que es un compromiso fomentar un cambio de paradigma, a través de un movimiento masivo que involucre los ámbitos familiar, profesional y académico, con el n de integrar la reflexión ética en nuestro diario proceder. PMID:19946384

  13. Redescripcion de la hembra y descripcion del macho de Pseudomethoca argyrocephala (Hymenoptera Mutillidae)

    Treesearch

    J.A. Genaro; J.A. Torres

    1999-01-01

    La especie Pseudomethoca argyrocephala fue descrita muy brevemente a partir de una hembra colectada en St. John, Islas Vfrgenes (Gerstaecker, 1874). Su presencia, inadvertida por la ausencia de ejemplares en las principales colecciones y la deposicion del holotipo en algun museo de Alemania, posiblemente motivo la omision en una clave para las especies antillanas (...

  14. Los Protectores del Planeta: actividades para niños y recursos educativos sobre reciclaje

    EPA Pesticide Factsheets

    Información sobre el Club Protectores del Planeta que enseña cómo reducir la basura desde el punto de origen, cómo reciclar y conservar los recursos naturales. La información incluye recursos educativos para el salón de clases.

  15. [A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].

    PubMed

    Li, Juan; Ding, Yu; Chang, Guoying; Cheng, Qing; Li, Xin; Wang, Jian; Wang, Xiumin; Shen, Yiping

    2017-02-10

    To identify the genetic cause for a 11-year-old Chinese boy with Meier-Gorlin syndrome (MGS). Chromosomal microarray analysis (CMA) was used to detect potential variations, while whole exome sequencing (WES) was used to identify sequence variants. Sanger sequencing was used to confirm the suspected variants. The boy has featured short stature, microtia, small patella, slender body build, craniofacial anomalies, and small testes with normal gonadotropin. A complete uniparental disomy of chromosome 16 was revealed by CMA. WES has identified a novel homozygous mutation c.67A>G (p.Lys23Glu) in ORC6 gene mapped to chromosome 16. As predicted by Alamut functional software, the mutation may affect the function of structural domain of the ORC6 protein. The patient is probably the first diagnosed MGS case in China, who carried a novel homozygous mutation of the ORC6 gene and uniparental disomy of chromosome 16. The effect of this novel mutation on the growth and development needs to be further investigated.

  16. A new method for correcting type I and type II constricted (cup and lop) ears.

    PubMed

    Xiaogeng, Hu; Hongxing, Zhuang; Qinghua, Yang; Haiyue, Jiang; Yanyong, Zhao

    2006-01-01

    Tanzer suggested the term "constricted ear," denoting a spectrum of deformities limited to the superior third of the ear. Tanzer classified the constricted ear into three types. Type I ears have involvement of the helix, which usually is flattened. Type II ears show involvement of both the helix and the scapha. With type III ears, the auricle is rolled into a nearly tubular form that some authors regard as a form of microtia. The authors' new method for correcting the constricted ear varies in accordance with the diverse degree of deformity. The new method was used to correct constricted ears through a one-stage operation in eight type I cases. For the remaining six type 2 cases, the methods were combined with composite grafting. Most of the patients were satisfied with the final results. Therefore, the authors conclude that their approach is suitable for the treatment of type I and type II constricted ears.

  17. Middle ear abnormalities in Van Maldergem syndrome.

    PubMed

    Verheij, Emmy; Thomeer, Henricus G X M; Pameijer, Frank A; Topsakal, Vedat

    2017-01-01

    Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. The main features of this syndrome comprise intellectual disability, blepharo-naso-facial malformation, and hand anomalies. Almost all nine described patients have been shown to be affected by conductive hearing impairment attributed to microtia, and atresia of the outer ear canal. Here, we present a VMS patient with congenital malformations of the middle ear as the main reason for severe conductive bilateral hearing impairment. To our knowledge, this is the first report to describe middle ear abnormalities in VMS. These malformations were seen on high resolution Computed Tomography scanning and during an exploratory tympanotomy. Due to the severity of the middle ear abnormalities and the risk for facial nerve damage, the patient was not offered an ossicular chain reconstruction but a bone conduction device after this exploratory tympanotomy. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. Multidisciplinary treatment approach in Treacher Collins syndrome.

    PubMed

    Hylton, Joseph B; Leon-Salazar, Vladimir; Anderson, Gary C; De Felippe, Nanci L O

    2012-01-01

    Treacher Collins syndrome (TCS) is a common genetic disorder with high penetrance and phenotypic variability. First and second branchial arches are affected in TCS, resulting in craniofacial and intraoral anomalies such as: severe convex facial profile; mid-face hypoplasia; microtia; eyelid colobomas; mandibular retrognathism; cleft palate; dental hypoplasia; heterotopic teeth; maxillary transverse hypoplasia; anterior open bite; and Angle Class II molar relationship. A high incidence of caries is also a typical finding in TCS patients. Nonetheless, even simple dental restorative procedures can be challenging in this patient population due to other associated medical conditions, such as: congenital heart defects; decreased oropharyngeal airways; hearing loss; and anxiety toward treatment. These patients often require a multidisciplinary treatment approach, including: audiology; speech and language pathology; otorhinolaryngology; general dentistry; orthodontics; oral and maxillofacial surgery; and plastic and reconstructive surgeries to improve facial appearance. This paper's purpose was to present a current understanding of Treacher Collins syndrome etiology, phenotype, and current treatment approaches.

  19. Natural radionuclides in the rocks of the Valle del Cervo Pluton in Piedmont.

    PubMed

    Sesana, Lucia; Fumagalli, Marco; Carnevale, Mauro; Polla, Giancarla; Facchini, Ugo; Colombo, Annita; Tunesi, Annalisa; De Capitani, Luisa; Rusconi, Rosella

    2006-01-01

    Monitoring of the gamma radiation in Valle del Cervo Pluton was performed by determining U and Th contents in the main rock types cropping out over the entire area and pertaining to the granitic complex, syenitic complex and monzonitic complex. In particular, syenitic rocks were largely used as building and ornamental materials (e.g. Sienite della Balma). All the samples are fresh and do not present joints or fractures filled with U minerals. In the crushed samples the activity of uranium varies from 346 to 764 Bq/kg. Concentration of thorium varies from 202 to 478 Bq/kg. For all the analysed rocks uranium activity is higher than thorium one. The lowest value of radioactive concentration is referred to rocks of the granitic complex. The most active rocks are syenites. The data confirm the high activities of Valle del Cervo rock types, strongly connected with high K content of the source magma (geochemical signature); on the contrary, the activity seems to be not related to the location of the samples.

  20. [Detection of Aedes albopictus (Skuse) (Diptera: Culicidae) in the city of Cali, Valle del Cauca, Colombia].

    PubMed

    Cuéllar-Jiménez, María Elena; Velásquez-Escobar, Olga Lucía; González-Obando, Ranulfo; Morales-Reichmann, Carlos Andrés

    2007-06-01

    Aedes albopictus is the second most important dengue virus vector in the Asian southeast after Aedes aegypti. Its entrance into the Americas occurred in 1985, and laboratory studies performed show its potential as a vector in this continent as well. In Colombia, this species has been reported in Leticia (Amazonas) in 1998 and Buenaventura (Valle del Cauca) in 2001. The latest discoveries show that this mosquito continues to advance toward the country's interior. To inform that the presence of A. albopictus is documented in the city of Cali, Valle del Cauca, Colombia. Since 2002, weekly sampling has been performed using larval traps located at seventeen stations. The identification of the A. albopictus species, was carried out in the Unidad de Entomología, Laboratorio de Salud Pública Departamental. These identifications were confirmed in the Entomology Laboratory at Universidad del Valle and the National Institute of Health in Bogotá. From April to June of 2006, larvae of A. albopictus were found in six sampling stations located between northwest and northeast of Cali, one of them in the suburban area of the Yumbo city. The control of A. aegypti and A. albopictus must be integrated into a single program. The surveillance in the cities and nearest departments must be intensified with the objective of limiting the advancement of A. albopictus.

  1. Assessing Glacier Hazards At Ghiacciaio Del Belvedere, Macugnaga, Italian Alps

    NASA Astrophysics Data System (ADS)

    Haeberli, W.; Chiarle, M.; Mortara, G.; Mazza, A.

    The uppermost section of the Valle Anzasca behind and above the community of Macugnaga in the Italian Alps is one of the most spectacular high-mountain land- scapes in Europe, with gigantic rock walls and numerous steep hanging glaciers. Its main glacier, Ghiacciaio del Belvedere at the foot of the huge Monte Rosa east face, is a heavily debris-covered glacier flowing on a thick sediment bed. Problems with floods, avalanches and debris flows from this ice body have been known for extended time periods. Most recently, however, the evolution of this highly dynamic environ- ment has become more dramatic. An outburst of Lago delle Locce, an ice-dammed lake at the confluenec of the tributary Ghiacciaio delle Locce with Ghiacciaio del Belvedere, caused heavy damage in 1979 and necessitated site investigation and con- struction work to be done for flood protection. The intermittent glacier growth ten- dency in the 1970es induced strong bulging of the glacier surface and, in places, caused the glacier tongue to override historical morains and to destroy newly-grown forest stands. A surge-type flow acceleration started in the lower parts of the Monte- Rosa east face during summer 2000, leading to strong crevassing and deformation of Ghiacciaio del Belvedere and extreme bulging of its orographic right margin. High water pressure and accelerated movement lasted into winter 2001/2002: the ice now started overriding the LIA moraine near Rifugio Zamboni of the CAI. In addition but rather independently, a most active detachment zone for rock falls and debris flows developed for several years now in the east face of Monte Rosa, somewhat more to the south of the accelerated glacier movement and at an altitude where relatively warm permafrost must be expected. Besides the scientific interest in these phenomena, the growing hazard potential to the local infrastructure must be considered seriously. Es- pecially potentials for the destabilization of large rock and ice masses in the

  2. Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

    PubMed Central

    Bliznetz, Elena A; Lalayants, Maria R; Markova, Tatiana G; Balanovsky, Oleg P; Balanovska, Elena V; Skhalyakho, Roza A; Pocheshkhova, Elvira A; Nikitina, Natalya V; Voronin, Sergey V; Kudryashova, Elena K; Glotov, Oleg S; Polyakov, Alexander V

    2017-01-01

    Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in Russia, clinical significance and evolutionary origins of a 101 kb deletion, del(GJB2-D13S175), recently identified by us. In multiethnic cohort of 1104 unrelated hearing loss patients with biallelic mutations at the DFNB1 locus, the del(GJB2-D13S175) allele frequency of up to 0.5% (11/2208) was determined and this allele was shown to be predominantly associated with profound sensorineural hearing loss. Additionally, eight previously unpublished GJB2 mutations were described in this study. All patients carrying del(GJB2-D13S175) were of the Ingush ancestry. Among normal hearing individuals, del(GJB2-D13S175) was observed in Russian Republic of Ingushetia with a carrier rate of ~1% (2/241). Analysis of haplotypes associated with the deletion revealed a common founder in the Ingushes, with age of the deletion being ~3000 years old. Since del(GJB2-D13S175) was missed by standard methods of GJB2 analysis, del(GJB2-D13S175) detection has been added to our routine testing strategy for DFNB1 hearing loss. PMID:28405014

  3. A novel biological 'twin-father' temporal paradox of General Relativity in a Gödel universe - Where reproductive biology meets theoretical physics.

    PubMed

    Ashrafian, Hutan

    2018-03-01

    Several temporal paradoxes exist in physics. These include General Relativity's grandfather and ontological paradoxes and Special Relativity's Langevin-Einstein twin-paradox. General relativity paradoxes can exist due to a Gödel universe that follows Gödel's closed timelike curves solution to Einstein's field equations. A novel biological temporal paradox of General Relativity is proposed based on reproductive biology's phenomenon of heteropaternal fecundation. Herein, dizygotic twins from two different fathers are the result of concomitant fertilization during one menstrual cycle. In this case an Oedipus-like individual exposed to a Gödel closed timelike curve would sire a child during his maternal fertilization cycle. As a consequence of heteropaternal superfecundation, he would father his own dizygotic twin and would therefore generate a new class of autofraternal superfecundation, and by doing so creating a 'twin-father' temporal paradox. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Diet of the Del Norte Salamander (Plethodon elongatus): Differences by age, gender, and season.

    Treesearch

    Clara A. Wheeler; Nancy E. Karraker; Hartwell H. Welsh; Lisa M. Ollivier

    2007-01-01

    Terrestrial salamanders are integral components of forest ecosystems and the examination of their feeding habits may provide useful information regarding various ecosystem processes. We studied the diet of the Del Norte Salamander (Plethodon elongatus) and assessed diet differences between age classes, genders, and seasons. The stomachs of 309...

  5. Shed Some Light on the Subject: Teaching Ramon del Valle-Inclan's "Luces de bohemia"

    ERIC Educational Resources Information Center

    Parker, Jason Thomas

    2011-01-01

    This essay seeks to provide parallel and interchangeable approaches to teaching Ramon del Valle-Inclan's challenging play "Luces de bohemia". A greater understanding of the cultural and mental frameworks of the early twentieth-century Spanish spectator will permit students to penetrate the dense intertextuality that characterizes Valle's…

  6. CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.

    PubMed

    Yang, Yuan; Zhang, Fan; Wang, Yang; Liu, Sheng-Chun

    2012-01-01

    Links between the CHEK2 1100delC heterozygote and breast cancer risk have been extensively explored. However, both positive and negative associations with this variant have been reported in individual studies. For a detailed assessment of the CHEK2 1100delC heterozygote and breast cancer risk, relevant studies published as recently as May 2012 were identified using PUBMED and EMBASE and selected using a priori defined criteria. The strength of the relationship between the CHEK2 1100delC variant and breast cancer risks was assessed by odds ratios (ORs) under the fixed effects model. A total of 29,154 cases and 37,064 controls from 25 case-control studies were identified in this meta-analysis. The CHEK2 1100delC heterozygote was more frequently detected in cases than in controls (1.34% versus 0.44%). A significant association was found between CHEK2 1100delC heterozygote and breast cancer risk (OR=2.75, 95% CI: [2.25, 3.36]). The ORs and CIs were 2.33 (95% CI: [1.79, 3.05]), 3.72 (95% CI: [2.61, 5.31]) and 2.78 (95% CI: [2.28, 3.39]) respectively in unselected, family, early-onset breast cancer subgroups. The CHEK2 1100delC variant could be a potential factor for increased breast cancer risk in Caucasians. However, more consideration is needed in order to apply it to allele screening or other clinical work.

  7. Towards a systematic construction of realistic D-brane models on a del Pezzo singularity

    NASA Astrophysics Data System (ADS)

    Dolan, Matthew J.; Krippendorf, Sven; Quevedo, Fernando

    2011-10-01

    A systematic approach is followed in order to identify realistic D-brane models at toric del Pezzo singularities. Requiring quark and lepton spectrum and Yukawas from D3 branes and massless hypercharge, we are led to Pati-Salam extensions of the Standard Model. Hierarchies of masses, flavour mixings and control of couplings select higher order del Pezzo singularities, minimising the Higgs sector prefers toric del Pezzos with dP 3 providing the most successful compromise. Then a supersymmetric local string model is presented with the following properties at low energies: (i) the MSSM spectrum plus a local B - L gauge field or additional Higgs fields depending on the breaking pattern, (ii) a realistic hierarchy of quark and lepton masses and (iii) realistic flavour mixing between quark and lepton families with computable CKM and PMNS matrices, and CP violation consistent with observations. In this construction, kinetic terms are diagonal and under calculational control suppressing standard FCNC contributions. Proton decay operators of dimension 4, 5, 6 are suppressed, and gauge couplings can unify depending on the breaking scales from string scales at energies in the range 1012-1016 GeV, consistent with TeV soft-masses from moduli mediated supersymmetry breaking. The GUT scale model corresponds to D3 branes at dP 3 with two copies of the Pati-Salam gauge symmetry SU(4) × SU(2) R × SU(2) L . D-brane instantons generate a non-vanishing μ-term. Right handed sneutrinos can break the B - L symmetry and induce a see-saw mechanism of neutrino masses and R-parity violating operators with observable low-energy implications.

  8. Matrine in association with FD-2 stimulates F508del-cystic fibrosis transmembrane conductance regulator activity in the presence of corrector VX809

    PubMed Central

    Marengo, Barbara; Speciale, Andrea; Senatore, Lisa; Garibaldi, Silvano; Musumeci, Francesca; Nieddu, Erika; Pollarolo, Benedetta; Pronzato, Maria Adelaide; Schenone, Silvia; Mazzei, Mauro; Domenicotti, Cinzia

    2017-01-01

    Cystic fibrosis is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the predominant mutation is termed Phe508del (F508del). Therapy for F508del-CFTR patients is based on the use of Orkambi®, a combination of VX809 and VX770. However, though Orkambi leads to an improvement in the lung function of patients, a progressive reduction in its efficacy has been observed. In order to overcome this effect, the aim of the present study was to investigate the role of matrine and the in-house compound FD-2 in increasing the action of VX809 and VX770. Fischer rat thyroid cells overexpressing F508del-CFTR were treated with matrine, VX809 (corrector) and/or with a number of potentiators (VX770, FD-1 and FD-2). The results demonstrated that matrine was able to stimulate CFTR activity and, in association with FD-2, increased the functionality of the channel in the presence of VX809. Based on these results, it may be hypothesized that FD-2 may be a novel and more effective potentiator compared with VX770. PMID:29039559

  9. Early neogene history of the central American arc from Bocas del Toro, western Panama

    USGS Publications Warehouse

    Coates, Anthony G.; Aubry, Marie-Pierre; Berggren, William A.; Collins, Laurel S.; Kunk, Michael J.

    2003-01-01

    A newly discovered sequence of lower to middle Miocene rocks from the eastern Bocas del Toro archipelago, western Panama, reveals the timing and environment of the earliest stages in the rise of the Isthmus of Panama in this region. Two new formations, the Punta Alegre Formation (lower Miocene, Aquitanian to Burdigalian) and the Valiente Formation (middle Miocene, Langhian to Serravallian), are here named and formally described. The Punta Alegre Formation contains a diagnostic microfauna of benthic and planktic foraminifera and calcareous nannofossils that indicate deposition in a 2000-m-deep pre-isthmian neotropical ocean from as old as 21.5–18.3 Ma. Its lithology varies from silty mudstone to muddy foraminiferal ooze with rare thin microturbidite layers near the top. The Valiente Formation, which ranges in age from 16.4 to ca. 12.0 Ma, lies with slight angular unconformity on the Punta Alegre Formation and consists of five lithofacies: (1) columnar basalt and flow breccia, (2) pyroclastic deposits, (3) coarse-grained volcaniclastic deposits, (4) coral-reef limestone with diverse large coral colonies, and (5) marine debris-flow deposits and microturbidites. These lithofacies are interpreted to indicate that after ca. 16 Ma a volcanic arc developed in the region of Bocas del Toro and that by ca. 12 Ma an extensively emergent archipelago of volcanic islands had formed. 39Ar/40Ar dating of basalt flows associated with the fossiliferous sedimentary rocks in the upper part of the Valiente Formation strongly confirms the ages derived from planktic foraminifera and nannofossils. Paleobathymetric analysis of the two new formations in the Valiente Peninsula and Popa Island, in the Bocas del Toro archipelago, shows a general shallowing from lower- through upper-bathyal to upper-neritic and emergent laharic and fluviatile deposits from ca. 19 to 12 Ma. The overlying nonconformable Bocas del Toro Group contains a lower transgressive sequence ranging from basal nearshore

  10. Determinacion del error sistematico del momentum de muones producidos por interacciones neutrino-nucleon en el detector MINER$$\

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

    Diaz Bautista, Gonzalo A.

    El Modelo Estandar describe todas las partculas observadas en el naturaleza hasta el momento as como las caractersticas que gobiernan a las interacciones fundamentales entre ellas. En especial es posible identicar a las interacciones electromagnetica y debil, las cuales bajo determinadas condiciones de temperatura y energa pueden ser descritas a traves de una sola teora que engloba a ambas. A esta teora se le denomina electrodebil y tiene como nalidad caracterizar las propiedades de la interaccion maniesta a partir de la mezcla de las interacciones electromagnetica y debil, la que tambien lleva como nombre interaccion electrodebil. Particularmente, los neutrinos sonmore » de especial interes ya que, por un lado, interactuan por medio de la interaccion debil muy raramente en comparacion con otras partculas y, por el otro, no son acertadamente descritos por el Modelo Estandar. Por medio de observaciones experimentales que demostraban que los neutrinos cambian de sabor al propagarse, fenomeno llamado oscilaciones de neutrinos, se pudo llegar a la conclusion de que la implicancia de este fenomeno da como consecuencia que los neutrinos efectivamente s tienen masa, algo que entra en contradiccion con la descripcion inicial del Modelo Estandar, el cual los describe como partculas sin masa. Es de esta manera que las oscilaciones de neutrinos han sido y siguen siendo en la actualidad objeto de interes en la Fsica de Altas Energas tanto teorica como experimental. A n de poder realizar mediciones precisas de oscilaciones de neutrinos, los experimentos encargados de estas mediciones deben tratar de reducir sus incertidumbres en lo posible. Una de estas proviene de la caracterizacion de las secciones de choque de los neutrinos cuando interactuan con la materia, particularmente los nucleones al interior de los nucleos atomicos. El experimento MINERA esta orientado, entre otras cosas, a hacer una correcta caracterizacion de secciones de choque neutrino-nucleon por medio del

  11. Velocidades radiales Coravel y fotometría UBV de gigantes rojas del cúmulo abierto Melotte71

    NASA Astrophysics Data System (ADS)

    Mermilliod, J. C.; Clariá, J. J.; Andersen, J.; Mayor, M.

    Se presentan velocidades radiales determinadas con el espectrovelocímetro CORAVEL y fotometría UBV de 24 gigantes rojas del cúmulo abierto de edad-intermedia Melotte71. Las observaciones realizadas en La Silla y Cerro Tololo permiten confirmar la pertenencia al cúmulo de 16 estrellas, de las cuales 8 constituyen nuevas binarias espectroscópicas cuyos períodos oscilan entre 74 y 1627 días. La velocidad radial media es +57.17 ± 0.47 km/s. El mejor ajuste con una isócrona teórica se obtiene para log t (edad) = 9.00 y Z = 0.008, no obstante existir algunas discrepancias respecto de la ubicación predicha y observada del ``clump".

  12. A Failed Utopia in Marcela Del Río's "Proceso a Faubritten"

    ERIC Educational Resources Information Center

    Manickam, Samuel

    2014-01-01

    In Marcela del Río's science fiction novel "Proceso a Faubritten," utopia comes in the form of eternal life for all of humanity, thanks to Dr. Alexander Faubritten's "Bomba L." This polyphonic work includes diaries by Faubritten and his Mexican lover, María Corona. In my analysis of these two diaries, I will show how…

  13. Seismically-induced soft-sediment deformation structures associated with the Magallanes-Fagnano Fault System (Isla Grande de Tierra del Fuego, Argentina)

    NASA Astrophysics Data System (ADS)

    Onorato, M. Romina; Perucca, Laura; Coronato, Andrea; Rabassa, Jorge; López, Ramiro

    2016-10-01

    In this paper, evidence of paleoearthquake-induced soft-sediment deformation structures associated with the Magallanes-Fagnano Fault System in the Isla Grande de Tierra del Fuego, southern Argentina, has been identified. Well-preserved soft-sediment deformation structures were found in a Holocene sequence of the Udaeta pond. These structures were analyzed in terms of their geometrical characteristics, deformation mechanism, driving force system and possible trigger agent. They were also grouped in different morphological types: sand dykes, convolute lamination, load structures and faulted soft-sediment deformation features. Udaeta, a small pond in Argentina Tierra del Fuego, is considered a Quaternary pull-apart basin related to the Magallanes-Fagnano Fault System. The recognition of these seismically-induced features is an essential tool for paleoseismic studies. Since the three main urban centers in the Tierra del Fuego province of Argentina (Ushuaia, Río Grande and Tolhuin) have undergone an explosive growth in recent years, the results of this study will hopefully contribute to future analyses of the seismic risk of the region.

  14. Μicro-Raman spectroscopy for the characterization of rock-art pigments from Abrigo del Águila (Badajoz - Spain)

    NASA Astrophysics Data System (ADS)

    Rosina, P.; Gomes, H.; Collado, H.; Nicoli, M.; Volpe, L.; Vaccaro, C.

    2018-06-01

    Micro-Raman spectroscopic technique allowed the characterization of organic and inorganic pigments of different colours sampled from a rock-art shelter named Abrigo del Aguila, located in the district of Badajoz, Cabeza del Buey (Extremadura - Spain). Micro-Raman analyses has been coupled with SEM observation and elemental analyses (EDS). The white and the black colours, used for non-representative figures, have been identified respectively as anatase and amorphous carbon, while two different type of red pigment has been found on figurative representations. The darker one, sampled, from a sun-figure, comprises an indeterminate organic compound beside of hematite. The second one, sampled from an anthropomorphic figure, is of a brilliant red and only hematite has been recognized in it.

  15. [The abdominal typhus outbreak in Civitella del Tronto (Teramo, Italy) during the first half of 1817].

    PubMed

    Capasso, Lorenzo; Vecchiet, Jacopo; D'Anastasio, Ruggero

    2012-01-01

    The authors describe the characteristics of the large outbreak of typhoid fever in Civitella del Tronto (Italy) in the year 1817. As reported in the "Rapporti Periodici sulla Salute Pubblica" ("Public Health Reports") periodically written by general practitioners, from March to June 1817 the morbidity rate was over 1% and both genders were equally affected. The most affected age group was the 30 to 40 year-old. Only 13% of the cases involved children aged 0 to 10 years. Epidemiological data suggest that the disease was not very infectious: it affected a slight number of individuals and only marginally infected the inhabitants of the areas around the main town of Civitella del Tronto. Public Health authorities of the Kingdom of Naples were likely able to efficiently control the sanitary conditions of the territories bordering the state.

  16. Illuminating water and life: Emilio Del Giudice.

    PubMed

    Ho, Mae-Wan

    2015-01-01

    The quantum electrodynamics theory of water put forward by Del Giudice and colleagues provides a useful foundation for a new science of water for life. The interaction of light with liquid water generates quantum coherent domains in which the water molecules oscillate between the ground state and an excited state close to the ionizing potential of water. This produces a plasma of almost free electrons favoring redox reactions, the basis of energy metabolism in living organisms. Coherent domains stabilized by surfaces, such as membranes and macromolecules, provide the excited interfacial water that enables photosynthesis to take place, on which most of life on Earth depends. Excited water is the source of superconducting protons for rapid intercommunication within the body. Coherent domains can also trap electromagnetic frequencies from the environment to orchestrate and activate specific biochemical reactions through resonance, a mechanism for the most precise regulation of gene function.

  17. The basement of the Punta del Este Terrane (Uruguay): an African Mesoproterozoic fragment at the eastern border of the South American Río de La Plata craton

    NASA Astrophysics Data System (ADS)

    Basei, Miguel A. S.; Peel, Elena; Sánchez Bettucci, Leda; Preciozzi, Fernando; Nutman, Allen P.

    2011-04-01

    The Punta del Este Terrane (eastern Uruguay) lies in a complex Neoproterozoic (Brasiliano/Pan-African) orogenic zone considered to contain a suture between South American terranes to the west of Major Gercino-Sierra Ballena Suture Zone and eastern African affinities terranes. Zircon cores from Punta del Este Terrane basement orthogneisses have U-Pb ages of ca. 1,000 Ma, which indicate an lineage with the Namaqua Belt in Southwestern Africa. U-Pb zircon ages also provide the following information on the Punta del Este terrane: the orthogneisses containing the ca. 1,000 Ma inheritance formed at ca. 750 Ma; in contrast to the related terranes now in Africa, reworking of the Punta del Este Terrane during Brasiliano/Pan-African orogenesis was very intense, reaching granulite facies at ca. 640 Ma. The termination of the Brasiliano/Pan-African orogeny is marked by formation of acid volcanic and volcanoclastic rocks at ca. 570 Ma (Sierra de Aguirre Formation), formation of late sedimentary basins (San Carlos Formation) and then intrusion at ca. 535 Ma of post-tectonic granitoids (Santa Teresa and José Ignacio batholiths). The Punta del Este Terrane and unrelated western terranes represented by the Dom Feliciano Belt and the Río de La Plata Craton were in their present positions by ca. 535 Ma.

  18. Astronomía para ciegos y amblíopes. Proyecto de construcción de un planetario especial en la ciudad de Mar del Plata

    NASA Astrophysics Data System (ADS)

    Musso, S.

    ?`Qué es la Astronomía para Ciegos?. El trabajo es una adaptación en base a la escala de magnitudes de Hipparco que cambia el concepto de luz por una adaptación sonora, donde las estrellas de magnitud 6 se escuchan en 10 dB, más o menos lo que consideramos el umbral de la audición humana. Quienes no escuchan muy bien no pueden escuchar las magnitudes 6, de la misma manera que muchos de nosotros, que no poseemos una visión perfecta, no podemos observar esas mismas estrellas en el cielo (más allá de la polución). A los astros de magnitud 5 vamos a relacionarlos a un sonido en 20 dB. Y así sucesivamente. También los colores estarán representados en una convención de graves a agudos y lo mismo algunas características del cielo. Por ejemplo, la Vía Láctea se mostrará como un ``ruido", como bien nos lo hicieron ver nuestros futuros destinatarios. En Mar del Plata nos encontramos ya trabajando en un proyecto que tiene como objetivo final la construcción del Primer Planetario Acústico del Mundo, una herramienta para la enseñanza de la astronomía, un espacio para la lucha contra la discriminación del discapacitado y una posibilidad de ``ver el cielo de un modo diferente".

  19. Risk association between the NF-κB1 -94ins/delATTG promoter polymorphism and inflammatory bowel diseases: a meta-analysis.

    PubMed

    Liang, Meilan; Xu, Xinyu; Gong, Yaoyao; Tang, Yurong; Lin, Lin

    2012-09-01

    Extensive investigation of the NF-κB1 -94ins/delATTG promoter polymorphism for risk association with ulcerative colitis (UC) and Crohn's disease (CD) risk has yielded conflicting results. The objective of this meta-analysis was to evaluate the risk association between the NF-κB1 -94ins/delATTG promoter polymorphism and UC and CD. All eligible case-control studies of the association of NF-κB1 -94ins/delATTG promoter polymorphism with UC and CD were identified in the Pubmed and Embase databases. From these data, odds ratios (OR) with 95 % confidence intervals (CI) were calculated. Meta-analysis was performed for alleles (D vs. W) and genotypes (DD + WD vs. WW, DD vs. WW + WD, DD vs. WW, WD vs. WW) in a fixed/random effects model. Nine case-control studies that included 4,447 cases (2,631 UC and 1,816 CD) and 2,195 controls were identified. Results indicated increased risk association of D allele carriers with UC (D vs. W: OR = 1.08, 95 % CI = 1.01-1.17, P = 0.03; DD vs. WW + WD: OR = 1.16, 95 % CI = 1.01-1.32, P = 0.04 and DD vs. WW: OR = 1.20, 95 % CI = 1.03-1.39, P = 0.02). No risk association was identified with CD. This meta-analysis indicated that the NF-κB1 -94ins/delATTG promoter polymorphism is a risk factor for UC but not CD.

  20. Deglacial palaeoclimate at Puerto del Hambre, subantarctic Patagonia, Chile

    NASA Astrophysics Data System (ADS)

    Heusser, Calvin J.; Heusser, Linda E.; Lowell, Thomas V.; Moreira M., Andrés; Moreira M., Simón

    2000-02-01

    The primary objective of this study is to further substantiate multistep climatic forcing of late-glacial vegetation in southern South America. A secondary objective is to establish the age of deglaciation in Estrecho de Magallanes-Bahía Inútil. Pollen assemblages at 2-cm intervals in a core of the mire at Puerto del Hambre (53°3621S, 70°5553W) provide the basis for reconstructing the vegetation and a detailed account of palaeoclimate in subantarctic Patagonia. Chronology over the 262-cm length of core is regulated by 20 AMS radiocarbon dates between 14 455 and 10 089 14C yr BP. Of 13 pollen assemblage zones, the earliest representing the Oldest Dryas chronozone (14 455-13 000 14C yr BP) records impoverished steppe with decreasing frequencies and loss of southern beech (Nothofagus). Successive 100-yr-long episodes of grass/herbs and of heath (Empetrum/Ericaceae) before 14 000 14C yr BP infer deglacial successional communities under a climate of increased continentality prior to the establishment of grass-dominated steppe. The Bølling-Allerød (13 000-11 000 14C yr BP) is characterised by mesic grassland under moderating climate that with abrupt change to heath dominance after 12 000 14C yr BP was warmer and not as humid. At the time of the Younger Dryas (11 000-10 000 14C yr BP), grass steppe expanded with a return of colder, more humid climate. Later, with gradual warming, communities were invaded by southern beech. The Puerto del Hambre record parallels multistep, deglacial palaeoclimatic sequences reported elsewhere in the Southern Andes and at Taylor Dome in Antarctica. Deglaciation of Estrecho de Magallanes-Bahía Inútil is dated close to 14 455 14C yr BP, invalidating earlier dates of between 15 800 and 16 590 14C yr BP.

  1. Bretschneider and del Nido solutions: Are they safe for coronary artery bypass grafting? If so, how should we use them?

    PubMed

    Siddiqi, Shirin; Blackstone, Eugene H; Bakaeen, Faisal G

    2018-05-01

    A variety of cardioplegic solutions are being used widely today to arrest the heart during coronary artery bypass grafting (CABG) and other cardiac operations. To minimize interruptions during the surgery for intermittent dosing of the cardioplegia and to facilitate less invasive cardiac procedures, single-shot solutions, including Bretschneider and del Nido solutions, have been introduced. This review examines the evidence regarding the safety and efficacy of Bretschneider and del Nido cardioplegia during CABG. The findings support their use in routine low-risk CABG, but finds insufficient evidence to support their safety in high-risk surgeries. © 2018 Wiley Periodicals, Inc.

  2. Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.

    PubMed

    Näslund-Koch, Charlotte; Nordestgaard, Børge G; Bojesen, Stig E

    2016-04-10

    CHEK2 is a cell cycle checkpoint regulator, and the CHEK2*1100delC germline mutation leads to loss of function and increased breast cancer risk. It seems plausible that this mutation could also predispose to other cancers. Therefore, we tested the hypothesis that CHEK2*1100delC heterozygosity is associated with increased risk for other cancers in addition to breast cancer in the general population. We examined 86,975 individuals from the Copenhagen General Population Study, recruited from 2003 through 2010. The participants completed a questionnaire on health and lifestyle, were examined physically, had blood drawn for DNA extraction, were tested for presence of CHEK2*1100delC using Taqman assays and sequencing, and were linked over 1943 through 2011 to the Danish Cancer Registry. Incidences and risks of individual cancer types, including breast cancer, were calculated using Kaplan-Meier estimates, Fine and Gray competing-risks regressions, and stratified analyses with interaction tests. Among 86,975 individuals, 670 (0.8%) were CHEK2*1100delC heterozygous, 2,442 developed breast cancer, and 6,635 developed other cancers. The age- and sex-adjusted hazard ratio for CHEK2*1100delC heterozygotes compared with noncarriers was 2.08 (95% CI, 1.51 to 2.85) for breast cancer and 1.45 (95% CI, 1.15 to 1.82) for other cancers. When stratifying for sex, the age-adjusted hazard ratios for other cancers were 1.54 (95% CI, 1.08 to 2.18) for women and 1.37 (95% CI, 1.01 to 1.85) for men (sex difference: P = .63). For CHEK2*1100delC heterozygotes compared with noncarriers, the age- and sex-adjusted hazard ratios were 5.76 (95% CI, 2.12 to 15.6) for stomach cancer, 3.61 (95% CI, 1.33 to 9.79) for kidney cancer, 3.45 (95% CI, 1.09 to 10.9) for sarcoma, and 1.60 (95% CI, 1.00 to 2.56) for prostate cancer. CHEK2*1100delC heterozygosity is associated with 15% to 82% increased risk for at least some cancers in addition to breast cancer. This information may be useful in clinical

  3. 33 CFR 334.110 - Delaware Bay off Cape Henlopen, Del.; naval restricted area.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ....110 Delaware Bay off Cape Henlopen, Del.; naval restricted area. (a) The area. Beginning at a point on...′11″; thence to latitude 38°49′16″, longitude 74°59′35″; thence to a point on the shore at latitude 38°46′09″; thence northwesterly and southwesterly along the shore at Cape Henlopen to the point of...

  4. [The Accademia dei Lincei (1603-1630) and the Accademia del Cimento (1657-1667].

    PubMed

    Mazzolini, Renato G

    2008-01-01

    The development of scientific academies during the 17th century in the old Italian States is illustrated on the basis of two examples: that of the Accademia dei Lincei with seat in Rome and that of the Accademia del Cimento with seat in the Grand Duchy of Tuscany. After a short survey of their activities follow some reflections on the causes of their ending.

  5. After 23 years the yellow symbiotic star LT Del is again in outburst

    NASA Astrophysics Data System (ADS)

    Munari, U.; Ochner, P.; Dallaporta, S.; Belligoli, R.

    2017-05-01

    The ANS Collaboration photometric and spectroscopic monitoring of symbiotic stars has detected LT Del (= Hen 2-467 = PK 063-12.1 = StHa 179) in outburst. This is the first recorded outburst since the last one of 1994-1995, which was discovered by Passuello et al. (1994, IAUC 6065) and described by Arkhipova et al. (1995a, ALett 21, 339; 1995b, ALett 21, 391).

  6. The alteration of T790M between 19 del and L858R in NSCLC in the course of EGFR-TKIs therapy: a literature-based pooled analysis.

    PubMed

    Liang, Hengrui; Pan, Zhenkui; Wang, Wei; Guo, Chengye; Chen, Difei; Zhang, Jianrong; Zhang, Yiyin; Tang, Shiyan; He, Jianxing; Liang, Wenhua

    2018-04-01

    Treatment-naive epidermal growth factor receptor (EGFR) T790M mutation is more inclined to coexist with L858R than with 19 del in non-small cell lung cancer (NSCLC) patients. However, EGFR-tyrosine kinase inhibitors (EGFR-TKIs) might alter this status. We sought to compare the prevalence of T790M upon acquired resistance to EGFR-TKIs between 19 del and L858R by assembling all existing data. Electronic databases were comprehensively searched for eligible studies. The primary endpoint was the odds ratio (OR) of T790M mutation in NSCLC co-existing with L858R mutation and 19 del upon resistance to first-generation EGFR-TKIs. A random effects model was used. Stratified analysis was performed based on study type (retrospective and prospective), race (Asians and Caucasians) and sample type (tissue and plasma). A total of 25 studies involving 1,770 patients were included. The overall T790M existent rate was 45.25%. Post-resistance T790M was more frequent in 19 del than in L858R mutated patients (53% vs. 36%; OR 1.87; P<0.001). All outcomes of subgroup and overall analyses were similar. In contrast, we re-analyzed the previous meta-analysis, finding that the pooled rate of pretreatment T790M was 14% and 22% in 19 del and L858R respectively (OR 0.59; P<0.001). The increase of T790M rate was 2.79-fold in 19 del and only 0.63-fold in L858R in the course of EGFR-TKIs therapy. Opposite to the situation of de novo T790M, it was observed that T790M was more frequent in exon 19 deletion than in L858R among patients with acquired resistance to EGFR-TKIs. The difference in T790M alteration between 19 del and L858R encourages development of detection or treatment strategies for the specific resistance mechanism.

  7. RELACIÓN MÉDICO PACIENTE: DERECHOS DEL ADULTO MAYOR

    PubMed Central

    Barrantes-Monge, Melba; Rodríguez, Eduardo; Lama, Alexis

    2009-01-01

    Existen prejuicios en relación con la vejez, incluso entre los profesionales que se dedican a la gerontología. Uno común y peligroso es considerar que los viejos son todos enfermos o discapacitados. La relación médico-paciente es la piedra angular de la práctica y ética médicas. Para alcanzar el respeto por los adultos mayores es necesaria una medicina prudente, basada en una práctica en la cual la reflexión ética y clínica pueda contribuir. Esto último es posible si se hacen valer los derechos del adulto mayor, en particular como paciente para la toma de decisiones. PMID:20379380

  8. Ground-water exploration in the Bosque del Apache Grant, Socorro County, New Mexico

    USGS Publications Warehouse

    Cooper, James B.

    1968-01-01

    Test drilling along the Rio Grande in the Bosque del Apache Grant in Socorro County, New Mexico has shown that the area is hydrologically complex and that the quality of the ground water varies from saline to fresh within short distances both laterally and vertically. Nearly all of the riverside land in the Grant is occupied by the migratory waterfowl refuge of the Bosque del Apache National Wildlife Refuge. Potable and near-potable water is obtained from 12 wells in this area that tap sand and gravel, and the wells are capable of yielding 1,000 gallons per minute or more. Stallion Range Center, a military installation on the White Sands Missile Range, about 15 miles east of =he waterfowl refuge, needs about 100,000 gallons per day of potable water. Potable water in large quantities is not known to be available at a location closer to the Center than the refuge area. The Fish and Wildlife Service, which operates the waterfowl refuge, gave permission to White Sands Missile Range to test drill and to develop a supply well in certain areas along the Rio Grande outside the managed lands of the refuge. The U.S. Geological Survey was then asked by White Sands Missile Range to choose locations for test drilling and to monitor drilling and testing of the wells. Between 1963 and 1967 test wells were drilled and a suitable location for a supply well as found. The well would be about 250 feet deep and would tap a body of potable water that is about 100 feet in thickness and is thought to underlie an area of at least 5 square miles. This report contains diagrammatic sections that show the lateral and vertical relation of waters of different quality along the Rio Grande in a part of the Bosque del Apache Grant. Basic data are given in tables; they include records of 7 test wells and 12 high-yield supply wells, and 52 chemical analyses of ground water from the wells.

  9. Comparison of therapeutic effects of EGFR-tyrosine kinase inhibitors on 19Del and L858R mutations in advanced lung adenocarcinoma and effect on cellular immune function.

    PubMed

    Zhou, Juan; Ben, Suqin

    2018-02-01

    We compared the therapeutic effect of EGFR-tyrosine kinase inhibitors (TKIs) on 19Del and L858R mutations in advanced lung adenocarcinoma on cellular immune function and explored the factors influencing the curative effect and prognosis. Clinical efficacy in the selected 71 patients with lung adenocarcinoma, including 52 patients with 19Del and L858R mutations and 19 wild type patients treated with EGFR-TKIs was retrospectively analyzed. The response rate (RR), disease control rate (DCR), progression-free survival (PFS), overall survival (OS), and cellular immune function were analyzed. The RR, DCR, PFS, and OS of the 19Del group were higher than those of the L858R group; however, there were no statistically significant differences between the groups. χ 2 test results revealed that gender, smoking, and EGFR mutations were associated with DCR. Log-rank analytical results showed that EGFR mutation type was correlated to PFS and OS. Multivariate analysis implied that disease control and mutation type of EGFR were independent prognostic factors of OS. Following TKI treatment, the number of CD3+, CD4+, and NK cells and the CD4+/CD8+ratio increased in both mutation groups; however the results were not statistically significant. There was also no significant difference in the upregulation of immunological function observed, with 46.43% in the 19Del mutation and 45.83% in the L858R mutation group. EGFR 19Del and L858R mutations are good biomarkers for predicting the clinical response of EGFR-TKIs. 19Del mutations may have a better clinical outcome. © 2017 The Authors. Thoracic Cancer published by China Lung Oncology Group and John Wiley & Sons Australia, Ltd.

  10. A new species of Rhadinella (Serpentes: Colubridae) from the Sierra Madre del Sur of Guerrero, Mexico.

    PubMed

    Campillo, Gustavo; Dávila-Galavíz, Luis Fernando; Flores-Villela, Oscar; Campbell, Jonathan A

    2016-04-12

    We describe a new species of Rhadinella from the Sierra Madre del Sur of Guerrero, Mexico, a region where the genus was previously unknown. This diminutive species is a member of a group of snakes previously allocated in the Rhadinaea godmani group, and more recently transferred to the genus Rhadinella. These snakes may have conspicuous dark longitudinal striping on a pale brown to orange background or may have dark brown to blackish dorsal ground coloration, which mostly or completely obfuscates a pattern of longitudinal striping. The new species is mostly dark with barely discernible slightly paler or darker striping (depending on how striping is interpreted). The closest relative of the new species, on the basis of morphological similarities and biogeography, appears to be Rhadinella donaji which occurs to the east in the Sierra Madre del Sur of Oaxaca about 275 km from the type-locality of the new species.

  11. Probing Conformational Rescue Induced by a Chemical Corrector of F508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutant*

    PubMed Central

    Yu, Wilson; Chiaw, Patrick Kim; Bear, Christine E.

    2011-01-01

    Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that cause loss of function of the CFTR channel on the apical surface of epithelial cells. The major CF-causing mutation, F508del-CFTR, is misfolded, retained in the endoplasmic reticulum, and degraded. Small molecule corrector compounds have been identified using high throughput screens, which partially rescue the trafficking defect of F508del-CFTR, allowing a fraction of the mutant protein to escape endoplasmic reticulum retention and traffic to the plasma membrane, where it exhibits partial function as a cAMP-regulated chloride channel. A subset of such corrector compounds binds directly to the mutant protein, prompting the hypothesis that they rescue the biosynthetic defect by inducing improved protein conformation. We tested this hypothesis directly by evaluating the consequences of a corrector compound on the conformation of each nucleotide binding domain (NBD) in the context of the full-length mutant protein in limited proteolytic digest studies. Interestingly, we found that VRT-325 was capable of partially restoring compactness in NBD1. However, VRT-325 had no detectable effect on the conformation of the second half of the molecule. In comparison, ablation of the di-arginine sequence, R553XR555 (F508del-KXK-CFTR), modified protease susceptibility of NBD1, NBD2, and the full-length protein. Singly, each intervention led to a partial correction of the processing defect. Together, these interventions restored processing of F508del-CFTR to near wild type. Importantly, however, a defect in NBD1 conformation persisted, as did a defect in channel activation after the combined interventions. Importantly, this defect in channel activation can be fully corrected by the addition of the potentiator, VX-770. PMID:21602569

  12. Assessment of spatial variability of major-ion concentrations and del oxygen-18 values in surface snow, Upper Fremont Glacier, Wyoming, USA

    USGS Publications Warehouse

    Naftz, D.L.; Schuster, P.F.; Reddy, M.M.

    1994-01-01

    One hundred samples were collected from the surface of the Upper Fremont Glacier at equally spaced intervals defined by an 8100m2 snow grid to asesss the significance of lateral variability in major-ion concentrations and del oxygen-18 values. Comparison of the observed variability of each chemical constituent to the variability expected by measurement error indicated substantial lateral variability with the surface-snow layer. Results of the nested ANOVA indicate most of the variance for every constituent is in the values grouped at the two smaller geographic scales (between 506m2 and within 506m2 sections). The variance data from the snow grid were used to develop equations to evaluate the significance of both positive and negative concentration/value peaks of nitrate and del oxygen-18 with depth, in a 160m ice core. Values of del oxygen-18 in the section from 110-150m below the surface consistently vary outside the expected limits and possibly represents cooler temperatures during the Little Ice Age from about 1810 to 1725 A.D. -from Authors

  13. Petrogenesis of fertile mantle peridotites from the Monte del Estado massif (southwest Puerto Rico): a preserved section of Proto-Caribbean oceanic lithospheric mantle?

    NASA Astrophysics Data System (ADS)

    Marchesi, Claudio; Jolly, Wayne T.; Lewis, John F.; Garrido, Carlos J.; Proenza, Joaquín. A.; Lidiak, Edward G.

    2010-05-01

    The Monte del Estado massif is the largest and northernmost serpentinized peridotite belt in southwest Puerto Rico. It is mainly composed of spinel lherzolite and minor harzburgite with variable clinopyroxene modal abundances. Mineral and whole rock major and trace element compositions of peridotites coincide with those of fertile abyssal peridotites from mid ocean ridges. Peridotites lost 2-14 wt% of relative MgO and variable amounts of CaO by serpentinization and seafloor weathering. HREE contents in whole rock indicate that the Monte del Estado peridotites are residues after low to moderate degrees (2-15%) of fractional partial melting in the spinel stability field. However, very low LREE/HREE and MREE/HREE in clinopyroxene cannot be explained by melting models of a spinel lherzolite source and support that the Monte del Estado peridotites experienced initial low fractional melting degrees (~ 4%) in the garnet stability field. The relative enrichment of LREE in whole rock is not due to secondary processes but probably reflects the capture of percolating melt fractions along grain boundaries or as microinclusions in minerals, or the presence of exotic micro-phases in the mineral assemblage. We propose that the Monte del Estado peridotite belt represents a section of ancient Proto-Caribbean (Atlantic) lithospheric mantle originated by seafloor spreading between North and South America in the Late Jurassic-Early Cretaceous. This portion of oceanic lithospheric mantle was subsequently trapped in the forearc region of the Greater Antilles paleo-island arc generated by the northward subduction of the Caribbean plate beneath the Proto-Caribbean ocean. Finally, the Monte del Estado peridotites belt was emplaced in the Early Cretaceous probably as result of the change in subduction polarity of the Greater Antilles paleo-island arc without having been significantly modified by subduction processes.

  14. Access to Information in Both CitaDel and FirstSearch: A Comparative Study of Dissertation Coverage.

    ERIC Educational Resources Information Center

    Perry, Stephen; Salisbury, Lutishoor

    1995-01-01

    Presents a comparative analysis of electronic access to theses and dissertations through CitaDel and FirstSearch. Highlights include the effectiveness and ease of use in providing enduser access; strengths and weaknesses of searching capabilities; coverage; pricing; and examples of direct retrieval comparison. (LRW)

  15. [Relation of MBL ExonI 54 and NFκB1-94ins/del ATTG Polymorphism with Fever during Neutropenia in Patients with Acute Leukaemia after Chemotherapy].

    PubMed

    Xu, Wen-Ning; Jiang, Zu-Jun; Li, Yong-Hua; Xiao, Hao-Wen; Gao, Yang; Pang, Yan; Ouyang, Lin; Liu, Zeng-Hui; Zhang, Le-Qing; Wang, Yang; Xiao, Yang

    2015-10-01

    To explore the correlation between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia (AL) (except M3) after first chemotherapy in Chinese Han population. Blood samples obtained from 76 fever patients with AL during neutropenia episodes were detected to analyse single nucleotide polymorphism (SNP) in the MBL ExonI 54 and NFκB1-94ins/del ATTG gene, and analyse the correlation between above-mentioned 2 polymorphisms and fever during neutropenia of AL patients after chemotherapy. In 76 patients, no correlation were found between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia after chemotherapy (P > 0.05). No significant relation were found in sex, age, underlying disease, disease status or degrees of neutropenia in febrile neutropenia between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism (P > 0.05). However, patients with MBL ExonI 54 mutation presented longer febrile duration with a median of 5 days compared to 3 days of patients with wildtype MBL ExonI 54 genotype (P < 0.05). There is no clear correlation between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia after chemotherapy. However, the patients with MBL ExonI 54 mutation have been observed to present a longer febrile duration.

  16. Increased efficacy of VX-809 in different cellular systems results from an early stabilization effect of F508del-CFTR.

    PubMed

    Farinha, Carlos M; Sousa, Marisa; Canato, Sara; Schmidt, André; Uliyakina, Inna; Amaral, Margarida D

    2015-08-01

    Cystic fibrosis (CF), the most common recessive autosomal disease among Caucasians, is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. The most common mutation, F508del, leads to CFTR impaired plasma membrane trafficking. Therapies modulating CFTR basic defect are emerging, such as VX-809, a corrector of F508del-CFTR traffic which just succeeded in a Phase III clinical trial. We recently showed that VX-809 is additive to two other correctors (VRT-325 and compound 4a). Here, we aimed to determine whether the differential rescuing by these compounds results from cell-specific factors or rather from distinct effects at the early biogenesis and/or processing. The rescuing efficiencies of the above three correctors were first compared in different cellular models (primary respiratory cells, cystic fibrosis bronchial epithelial and baby hamster kidney [BHK] cell lines) by functional approaches: micro-Ussing chamber and iodide efflux. Next, biochemical methods (metabolic labeling, pulse-chase and immunoprecipitation) were used to determine their impact on CFTR biogenesis / processing. Functional analyses revealed that VX-809 has the greatest rescuing efficacy and that the relative efficiencies of the three compounds are essentially maintained in all three cellular models tested. Nevertheless, biochemical data show that VX-809 significantly stabilizes F508del-CFTR immature form, an effect that is not observed for C3 nor C4. VX-809 and C3 also significantly increase accumulation of immature CFTR. Our data suggest that VX-809 increases the stability of F508del-CFTR immature form at an early phase of its biogenesis, thus explaining its increased efficacy when inducing its rescue.

  17. Increased efficacy of VX-809 in different cellular systems results from an early stabilization effect of F508del-CFTR

    PubMed Central

    Farinha, Carlos M; Sousa, Marisa; Canato, Sara; Schmidt, André; Uliyakina, Inna; Amaral, Margarida D

    2015-01-01

    Cystic fibrosis (CF), the most common recessive autosomal disease among Caucasians, is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. The most common mutation, F508del, leads to CFTR impaired plasma membrane trafficking. Therapies modulating CFTR basic defect are emerging, such as VX-809, a corrector of F508del-CFTR traffic which just succeeded in a Phase III clinical trial. We recently showed that VX-809 is additive to two other correctors (VRT-325 and compound 4a). Here, we aimed to determine whether the differential rescuing by these compounds results from cell-specific factors or rather from distinct effects at the early biogenesis and/or processing. The rescuing efficiencies of the above three correctors were first compared in different cellular models (primary respiratory cells, cystic fibrosis bronchial epithelial and baby hamster kidney [BHK] cell lines) by functional approaches: micro-Ussing chamber and iodide efflux. Next, biochemical methods (metabolic labeling, pulse-chase and immunoprecipitation) were used to determine their impact on CFTR biogenesis / processing. Functional analyses revealed that VX-809 has the greatest rescuing efficacy and that the relative efficiencies of the three compounds are essentially maintained in all three cellular models tested. Nevertheless, biochemical data show that VX-809 significantly stabilizes F508del-CFTR immature form, an effect that is not observed for C3 nor C4. VX-809 and C3 also significantly increase accumulation of immature CFTR. Our data suggest that VX-809 increases the stability of F508del-CFTR immature form at an early phase of its biogenesis, thus explaining its increased efficacy when inducing its rescue. PMID:26171232

  18. Methodology to develop endemic channels and notification trends for dengue in Valle del Cauca, Colombia, 2009-2013.

    PubMed

    Hernández, Mauricio; Arboleda, Diana; Arce, Stephania; Benavides, Allan; Tejada, Paola Andrea; Ramírez, Sindy Vanessa; Cubides, Ángela

    2015-12-07

    Dengue is the fastest spreading disease in the world and a permanent threat to global public health. It is a viral illness for which approximately 2.5 million people are at high risk of infection. Given the severity of the disease at national and global levels, new predictive methodologies need to be generated to facilitate decision-making in public health.  To characterize cases of dengue reported from 2009 to 2013 in Valle del Cauca department, Colombia, and to establish a methodology to develop endemic channels that can be applied to this event.  This was a retrospective descriptive study. Notification forms were used as a secondary database to characterize dengue cases from 2009 to 2013. Two endemic channels were developed, one using running means and the other through exponential smoothing.  Dengue in the department of Valle del Cauca showed a positive tendency, indicating that the number of cases had increased in the last five years. An important variation was observed that could be explained by a three-year cycle beginning in the first epidemiological period of the year.  The development of the dengue endemic channel for Valle del Cauca illustrates the importance of applying these monitoring methodologies to events of public health interest. As can be seen from the results, there were some years in which the number of cases was very low and others in which the epidemic reached very high levels.

  19. Volcanic hazard maps of the Nevado del Ruiz volcano, Colombia

    NASA Astrophysics Data System (ADS)

    Parra, Eduardo; Cepeda, Hector

    1990-07-01

    Although the potential hazards associated with an eruption of Nevado del Ruiz volcano were known to civil authorities before the catastrophic eruption there in November 1985, their low perception of risk and the long quiescent period since the last eruption (140 years), caused them to wait for stronger activity before developing an eruption alert system. Unfortunately, the eruption occurred suddenly after a period of relative quiet, and as a result more than 25,000 people were killed. Although it was accurate and reasonably comprehensive, the hazard map that existed before the eruption was poorly understood by the authorities and even less so by the general population, because the scientific terminology and probabilistic approach to natural hazards were unfamiliar to many of them. This confusion was shared by the communication media, which at critical times placed undue emphasis on the possibility of lava flows rather than on the more imminent threat from mudflows, in keeping with the popular but often inaccurate perception of volcanic eruptions. This work presents an updated hazard map of Nevado del Ruiz that combines information on various hazardous phenomena with their relative probability of occurrence in order to depict numerical "hazard levels" that are easily comprehensible to nonspecialists and therefore less susceptible to misinterpretation. The scale of relative risk is arbitrary, ranging from five to one, and is intended to provide an intuitive indication of danger to people, property and crops. The map is meant to facilitate emergency preparedness and management by political and civil authorities, to educate the public concerning volcanic hazards and to assist in land-use planning decisions.

  20. Hawking radiation and propagation of massive charged scalar field on a three-dimensional Gödel black hole

    NASA Astrophysics Data System (ADS)

    González, P. A.; Övgün, Ali; Saavedra, Joel; Vásquez, Yerko

    2018-06-01

    In this paper we consider the three-dimensional Gödel black hole as a background and we study the vector particle tunneling from this background in order to obtain the Hawking temperature. Then, we study the propagation of a massive charged scalar field and we find the quasinormal modes analytically, which turns out be unstable as a consequence of the existence of closed time-like curves. Also, we consider the flux at the horizon and at infinity, and we compute the reflection and transmission coefficients as well as the absorption cross section. Mainly, we show that massive charged scalar waves can be superradiantly amplified by the three-dimensional Gödel black hole and that the coefficients have an oscillatory behavior. Moreover, the absorption cross section is null at the high frequency limit and for certain values of the frequency.

  1. Use of saltcedar vegetation by landbirds migrating through the Bosque Del Apache National Wildlife Refuge

    Treesearch

    Jeffrey F. Kelly; Deborah M. Finch

    1999-01-01

    We compared diversity, abundance and energetic condition of migrant landbirds captured in four different vegetation types in the Bosque del Apache National Wildlife Refuge. We found lower species diversity among migrants caught in exotic saltcedar vegetation than in native willow or cottonwood. In general, Migrants were most abundant in agricultural edge and least...

  2. Dropouts, Stopouts, Optouts at Del Mar College: Spring 1991. Report of a Joint Research Project.

    ERIC Educational Resources Information Center

    Luckie, Jo Ann I.; Bonham, L. Adrianne

    A research project investigated 2,313 persons who attended Del Mar College (Texas) during fall 1990 but did not enroll for spring 1991. Four sets of data were collected: (1) limited demographic information on the total student body; (2) demographic information drawn from school records to describe all nonreturnees; (3) demographic information…

  3. Argentine gas system underway for Gas del Estado

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

    Bosch, H.

    Gas del Estado's giant 1074-mile Centro-Oeste pipeline project - designed to ultimately transport over 350 million CF/day of natural gas from the Neuquen basin to the Campo Duran-Buenos Aires pipeline system - is now underway. The COGASCO consortium of Dutch and Argentine companies awarded the construction project will also operate and maintain the system for 15 years after its completion. In addition to the 30-in. pipelines, the agreement calls for a major compressor station at the gas field, three intermediate compressor stations, a gas-treatment plant, liquids-recovery facilities, and the metering, control, communications, and maintenance equipment for the system. Fabricated inmore » Holland, the internally and externally coated pipe will be double-jointed to 80-ft lengths after shipment to Argentina; welders will use conventional manual-arc techniques to weld the pipeline in the field.« less

  4. Origen y evolución de la estructura del Universo

    NASA Astrophysics Data System (ADS)

    García Lambas, D.

    Se presenta una revisión de diversos tópicos vinculados a la evolución de estructuras en el Universo y se discuten los escenarios más aceptados para la comprensión de las irregularidades primigenias y de su evolución temporal. Se analizan evidencias observacionales de la naturaleza jerárquica en los mecanismos de formación de sistemas, tales como las indicaciones provenientes de las correlaciones espaciales y de velocidades, la naturaleza del Universo a alto redshift, y la habilidad de los modelos jerárquicos en predecir diversas propiedades dinámicas, fotométricas y químicas de las galaxias.

  5. DelPhi webserver: Comprehensive suite for electrostatic calculations of biological macromolecules and their complexes

    NASA Astrophysics Data System (ADS)

    Witham, Shawn; Boylen, Brett; Owesen, Barr; Rocchia, Walter; Alexov, Emil

    2011-03-01

    Electrostatic forces and energies are two of the major components that contribute to the stability, function and interaction of biological macromolecules. The calculations of the electrostatic potential distribution in such systems, which are comprised of irregularly shaped objects immersed in a water phase, is not a trivial task. In addition, an accurate model requires any missing hydrogen atoms of the corresponding structural files (Protein Data Bank, or, PDB files) to be generated in silico and, if necessary, missing atoms or residues to be predicted as well. Here we report a comprehensive suite, an academic DelPhi webserver, which allows the users to upload their structural file, calculate the components of the electrostatic energy, generate the corresponding potential (and/or concentration/dielectric constant) distribution map, and choose the appropriate force field. The webserver utilizes modern technology to take user input and construct an algorithm that suits the users specific needs. The webserver uses Clemson University's Palmetto Supercomputer Cluster to handle the DelPhi calculations, which can range anywhere from small and short computation times, to extensive and computationally demanding runtimes. The work was supported by a grant from NIGMS, NIH, grant number 1R01GM093937-01.

  6. A High-Resolution InDel (Insertion–Deletion) Markers-Anchored Consensus Genetic Map Identifies Major QTLs Governing Pod Number and Seed Yield in Chickpea

    PubMed Central

    Srivastava, Rishi; Singh, Mohar; Bajaj, Deepak; Parida, Swarup K.

    2016-01-01

    Development and large-scale genotyping of user-friendly informative genome/gene-derived InDel markers in natural and mapping populations is vital for accelerating genomics-assisted breeding applications of chickpea with minimal resource expenses. The present investigation employed a high-throughput whole genome next-generation resequencing strategy in low and high pod number parental accessions and homozygous individuals constituting the bulks from each of two inter-specific mapping populations [(Pusa 1103 × ILWC 46) and (Pusa 256 × ILWC 46)] to develop non-erroneous InDel markers at a genome-wide scale. Comparing these high-quality genomic sequences, 82,360 InDel markers with reference to kabuli genome and 13,891 InDel markers exhibiting differentiation between low and high pod number parental accessions and bulks of aforementioned mapping populations were developed. These informative markers were structurally and functionally annotated in diverse coding and non-coding sequence components of genome/genes of kabuli chickpea. The functional significance of regulatory and coding (frameshift and large-effect mutations) InDel markers for establishing marker-trait linkages through association/genetic mapping was apparent. The markers detected a greater amplification (97%) and intra-specific polymorphic potential (58–87%) among a diverse panel of cultivated desi, kabuli, and wild accessions even by using a simpler cost-efficient agarose gel-based assay implicating their utility in large-scale genetic analysis especially in domesticated chickpea with narrow genetic base. Two high-density inter-specific genetic linkage maps generated using aforesaid mapping populations were integrated to construct a consensus 1479 InDel markers-anchored high-resolution (inter-marker distance: 0.66 cM) genetic map for efficient molecular mapping of major QTLs governing pod number and seed yield per plant in chickpea. Utilizing these high-density genetic maps as anchors, three major

  7. Magnetostratigraphy of Venta del Moro: evidence for an Afro-Iberian land-bridge during the pre-evaporitic Messinian

    NASA Astrophysics Data System (ADS)

    Gibert, L.; Scott, G. R.; Montoya, P.; Ruíz Sánchez, F.; Morales, J.

    2012-12-01

    The fossil site of Venta del Moro, Spain, has Western Europe's most complete vertebrate fauna for the latest Miocene. Its uniquely cosmopolitan assemblage is evidence of faunal dispersals from Africa and Asia towards Europe during the latest Miocene glaciation. Venta del Moro has 48 species of mammals including the oldest European camel (Paracamelus aguirrei) and the first appearance datum (FAD) in Europe for the murid Paraethomys meini. It is the type locality for 6 mammal species and has the type fauna of the local Ventian mammal age (within the Neogene mammal zone MN13). A preliminary paleomagnetic report suggested an age of 5.8Ma for this site. Here we describe an expanded magnetostratigraphic study placing this fauna at 6.21Ma, 3.5m above the basal boundary of magnetozone C3An.1n. We use the Astronomical Tuned Neogene Time Scale (ATNTS) to recalibrate the age of the North African site of Afoud-1 where European mammals have been discovered and the Iberian site Librilla (SIF61), which shares with Venta del Moro the genus Paracamelus and Paraethomys. Our results show a contemporaneous presence of European mammals in North Africa (Afoud-1, 6.21Ma) and of African immigrants in Iberia (Venta del Moro 6.21Ma and Librilla 6.19Ma). Latest Miocene tectonics generate the closure of the Betic marine corridor at 6.3Ma and the progressive restriction of the Rifian seaway until its total closure at 6Ma, triggering the onset of Messinian Salinity Crisis (MSC) at 5.96Ma. Our results suggest that at least an ephemeral land corridor existed between these two continents 250Ka before the onset of the MSC. This corridor occurred after the intensification of the latest Miocene glaciation at 6.26Ma that increased the restriction in Mediterranean sea water circulation and developed during an obliquity-induced glacio-eustatic sea level fall between 6.22-6.18Ma. This pre-evaporitic corridor acted as a filter bridge that allowed a limited exchange of immigrants, serving as a prelude of a

  8. Urban Impact of Dissolved Metals in the Paso del Norte Segment of the Rio Grande

    ERIC Educational Resources Information Center

    Freiwan, Sumayeh Ahmad

    2013-01-01

    The Paso del Norte segment of the Rio Grande experiences two seasons per year; the (wet) irrigation season and the (dry) non-irrigation season. The goal of this study was to improve the understanding of occurrence and contribution of dissolved metals in this region during the non-irrigation season. The objectives of this study were to (1) evaluate…

  9. Public Participation and Natural Habitat Preservation Along Arcade Creek, Del Paso Regional Park, Sacramento, California

    Treesearch

    Timothy J. Vendlinski; Steven N. Talley

    1989-01-01

    Thirty-six hectares (90 acres) of riparian forest, high terrace oak woodland-savanna, and upland vernal pools were preserved along Arcade Creek in Sacramento, California as a result of citizen involvement in a city-sponsored master plan process for Del Paso Regional Park. Citizens formed an organization and called for a comprehensive Environmental Impact Report to...

  10. Modelo analítico del efecto de PRS sobre satélites GPS

    NASA Astrophysics Data System (ADS)

    Meza, A.; Brunini, C.; Usandivaras, J. C.

    El sistema GPS (Global Position System) es, hoy en día, la herramienta de navegación y posicionamiento más potente y lo será sin duda en la próxima década. Gran parte de su valiosa utilidad se debe a la alta precisión que permite lograr y ésta, a su vez, depende, entre otras causas, de la precisión con que se conocen las órbitas de los satélites. La presión de radiación solar (PRS) fija el límite de la precisión con que pueden calcularse en la actualidad las efemérides satelitarias. El objetivo de este trabajo es proponer una mejor resolución de este fenómeno. El modelo analítico aquí presentado, se basa en el análisis del comportamiento de los residuos de un ajuste por mínimos cuadrados en el que se utiliza el modelo de PRS propuesto por Beutler. El mismo consiste en un modelo determinista del fenómeno con dos parámetros libres. Los resultados obtenidos ponen de manifiesto que, aún después de aplicar dichos parámetros, prevalecen en los residuos efectos semidiurnos en las componentes radial,tangencial y normal. Estos resultados obtenidos se comparan con los de un trabajo desarrollado por el Instituto de Berne (Beutler et al., 1994), en el que se utilizaron como pseudo-observaciones las órbitas precisas del IGS (CODE). El intervalo de integración escogido por este centro fueron las semanas 680 y 681. En resumen se tienen arcos de 14 días para todos los satélites, donde las efemérides precisas de los mismos para los 14 días fueron utilizados como pseudo-observaciones. El modelo de fuerza que empleó dicho centro fue básicamente el tradicional en lo que respecta al modelo de las fuerzas gravitacionales, y para la PRS utilizo el modelo standard de Beutler. Los parámetros de este modelo junto con las 6 condiciones iniciales (posición y velocidad) fueron ajustados por el método general de mínimos cuadrados. Los residuos en la componente radial, tangencial y normal, para los satélites con un buen comportamiento, presentan una

  11. Physiological profile of fighters influences training organisation in combat sports: response to Del Vecchio, Hirata, and Franchini (2011).

    PubMed

    Paillard, Thierry

    2011-12-01

    The article by Del Vecchio, et al. (2011) provides relevant information to trainers about the effort-pause ratio during mixed martial arts matches. Taking into account the physiological profiles of fighters would increase interest in these findings.

  12. Early evolution of the extraordinary Nova Delphini 2013 (V339 Del)

    NASA Astrophysics Data System (ADS)

    Skopal, A.; Drechsel, H.; Tarasova, T.; Kato, T.; Fujii, M.; Teyssier, F.; Garde, O.; Guarro, J.; Edlin, J.; Buil, C.; Antao, D.; Terry, J.-N.; Lemoult, T.; Charbonnel, S.; Bohlsen, T.; Favaro, A.; Graham, K.

    2014-09-01

    Aims: We determine the temporal evolution of the luminosity (LWD), radius (RWD) and effective temperature (Teff) of the white dwarf (WD) pseudophotosphere of V339 Del from its discovery to around day 40. Another main objective was studying the ionization structure of the ejecta. Methods: These aims were achieved by modelling the optical/near-IR spectral energy distribution (SED) using low-resolution spectroscopy (3500-9200 Å), UBVRCIC and JHKLM photometry. Important insights in the physical conditions of the ejecta were gained from an analysis of the evolution of the Hα and Raman-scattered 6825 Å O vi line using medium-resolution spectroscopy (R ~ 10 000). Results: During the fireball stage (Aug. 14.8-19.9, 2013), Teff was in the range of 6000-12 000 K, RWD was expanding non-uniformly in time from ~66 to ~300 (d/ 3 kpc) R⊙, and LWD was super-Eddington, but not constant. Its maximum of ~9 × 1038 (d/ 3 kpc)2 erg s-1 occurred around Aug. 16.0, at the maximum of Teff, half a day before the visual maximum. After the fireball stage, a large emission measure of 1.0-2.0 × 1062 (d/ 3 kpc)2 cm-3 constrained the lower limit of LWD to be well above the super-Eddington value. The mass of the ionized region was a few × 10-4 M⊙, and the mass-loss rate was decreasing from ~5.7 (Aug. 22) to ~0.71 × 10-4 M⊙ yr-1 (Sept. 20). The evolution of the Hα line and mainly the transient emergence of the Raman-scattered O vi 1032 Å line suggested a biconical ionization structure of the ejecta with a disk-like H i region persisting around the WD until its total ionization, around day 40. On Sept. 20 (day 35), the model SED indicated a dust emission component in the spectrum. The dust was located beyond the H i zone, where it was shielded from the hard, ≳105 K, radiation of the burning WD at that time. Conclusions: Our extensive spectroscopic observations of the classical nova V339 Del allowed us to map its evolution from the very early phase after its explosion. It is evident

  13. Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation.

    PubMed

    Magdalena, N; Pilonetto, D V; Bitencourt, M A; Pereira, N F; Ribeiro, R C; Jeng, M; Pasquini, R

    2005-05-01

    Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA) in Brazilian FA patients. We present the results obtained after screening 80 non-consanguineous FA patients referred from all regions of Brazil with a clinical diagnosis of FA supported by cellular hypersensitivity to diepoxybutane. We were able to detect the 3788-3790del allele in 24 of the 80 (30%) FA patients studied. Thirteen of the 80 (16.25%) were homozygotes and 11 of the 80 (13.75%) were compound heterozygotes, thus confirming the high frequency of the FANCA 3788-3790del mutation in Brazilian FA patients. The identification of patients with specific mutations in the FA genes may lead to a better clinical description of this condition, also providing data for genotype-phenotype correlations, to a better understanding of the interaction of this specific mutation with other mutations in compound heterozygote patients, and ultimately to the right choices of treatment for each patient with improvement of the prognosis on future studies.

  14. The 14 bp Del/Ins HLA-G polymorphism is related with high blood pressure in acute coronary syndrome and type 2 diabetes mellitus.

    PubMed

    García-González, Ilian Janet; Valle, Yeminia; Rivas, Fernando; Figuera-Villanueva, Luis Eduardo; Muñoz-Valle, José Francisco; Flores-Salinas, Hector Enrique; Gutiérrez-Amavizca, Bianca Ethel; Dávalos-Rodríguez, Nory Omayra; Padilla-Gutiérrez, Jorge Ramón

    2014-01-01

    Immunologic and inflammatory processes are involved in the pathogenesis of acute coronary syndrome (ACS) and type 2 diabetes mellitus (DM2). Human leukocyte antigen-G (HLA-G) is a negative regulator of the immune response. This study evaluates the 14 bp Del/Ins HLA-G polymorphism in ACS and DM2. Three hundred and seventy individuals from Western Mexico were recruited and categorized into three groups: ACS (86), DM2 without coronary complications (70), and healthy subjects (214). Genotyping of the 14 bp Del/Ins HLA-G polymorphism was performed by PCR and Native-PAGE. The most common risk factors were hypertension and overweight in ACS and DM2, respectively. The genetic distribution of the 14 bp Del/Ins HLA-G polymorphism showed no significant differences between groups (P ≥ 0.23). Nonetheless, the Ins/Ins genotype was associated with high blood pressure (HBP) in the DM2 group (OR(c) = 1.65, P = 0.02). The genetic recessive model showed similar findings (OR(c) = 3.03, P = 0.04). No association was found in ACS, with a P of 0.05; nevertheless, the prevalence of Ins/Ins carriers was quite similar to that found in the DM2-HBP group. The 14 bp Del/Ins HLA-G polymorphism was not a susceptibility factor for ACS or DM2; however, the Ins/Ins genotype might have contributed to the development of HBP in the studied groups.

  15. The 14 bp Del/Ins HLA-G Polymorphism Is Related with High Blood Pressure in Acute Coronary Syndrome and Type 2 Diabetes Mellitus

    PubMed Central

    García-González, Ilian Janet; Valle, Yeminia; Rivas, Fernando; Figuera-Villanueva, Luis Eduardo; Muñoz-Valle, José Francisco; Flores-Salinas, Hector Enrique; Gutiérrez-Amavizca, Bianca Ethel; Dávalos-Rodríguez, Nory Omayra; Padilla-Gutiérrez, Jorge Ramón

    2014-01-01

    Immunologic and inflammatory processes are involved in the pathogenesis of acute coronary syndrome (ACS) and type 2 diabetes mellitus (DM2). Human leukocyte antigen-G (HLA-G) is a negative regulator of the immune response. This study evaluates the 14 bp Del/Ins HLA-G polymorphism in ACS and DM2. Three hundred and seventy individuals from Western Mexico were recruited and categorized into three groups: ACS (86), DM2 without coronary complications (70), and healthy subjects (214). Genotyping of the 14 bp Del/Ins HLA-G polymorphism was performed by PCR and Native-PAGE. The most common risk factors were hypertension and overweight in ACS and DM2, respectively. The genetic distribution of the 14 bp Del/Ins HLA-G polymorphism showed no significant differences between groups (P ≥ 0.23). Nonetheless, the Ins/Ins genotype was associated with high blood pressure (HBP) in the DM2 group (ORc = 1.65, P = 0.02). The genetic recessive model showed similar findings (ORc = 3.03, P = 0.04). No association was found in ACS, with a P of 0.05; nevertheless, the prevalence of Ins/Ins carriers was quite similar to that found in the DM2-HBP group. The 14 bp Del/Ins HLA-G polymorphism was not a susceptibility factor for ACS or DM2; however, the Ins/Ins genotype might have contributed to the development of HBP in the studied groups. PMID:24689061

  16. The shallow-water fish assemblage of Isla del Coco National Park, Costa Rica: Structure and patterns in an isolated, predator-dominated ecosystem

    USGS Publications Warehouse

    Friedlander, Alan M.; Zgliczynski, Brian J.; Ballesteros, Enric; Aburto-Oropeza, Octavio; Bolaños, Allan; Sala, Enric

    2012-01-01

    Fishes at Isla del Coco National Park, Costa Rica, were surveyed as part of a larger scientific expedition to the area in September 2009. The average total biomass of nearshore fishes was 7.8 tonnes per ha, among the largest observed in the tropics, with apex predators such as sharks, jacks, and groupers accounting for nearly 40% of the total biomass. The abundance of reef and pelagic sharks, particularly large aggregations of threatened species such as the scalloped hammerhead shark (up to 42 hammerheads ha-1) and large schools of jacks and snappers show the capacity for high biomass in unfished ecosystems in the Eastern Tropical Pacific. However, the abundance of hammerhead and reef whitetip sharks appears to have been declining since the late 1990s, and likely causes may include increasing fishing pressure on sharks in the region and illegal fishing inside the Park. One Galapagos shark tagged on September 20, 2009 in the Isla del Coco National Park moved 255km southeast towards Malpelo Island in Colombia, when it stopped transmitting. These results contribute to the evidence that sharks conduct large-scale movements between marine protected areas (Isla del Coco, Malpelo, Galápagos) in the Eastern tropical Pacific and emphasize the need for regional-scale management. More than half of the species and 90% of the individuals observed were endemic to the tropical eastern Pacific. These high biomass and endemicity values highlight the uniqueness of the fish assemblage at Isla del Coco and its importance as a global biodiversity hotspot.

  17. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

    PubMed

    Wainwright, Claire E; Elborn, J Stuart; Ramsey, Bonnie W; Marigowda, Gautham; Huang, Xiaohong; Cipolli, Marco; Colombo, Carla; Davies, Jane C; De Boeck, Kris; Flume, Patrick A; Konstan, Michael W; McColley, Susanna A; McCoy, Karen; McKone, Edward F; Munck, Anne; Ratjen, Felix; Rowe, Steven M; Waltz, David; Boyle, Michael P

    2015-07-16

    Cystic fibrosis is a life-limiting disease that is caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is the most common CFTR mutation. We conducted two phase 3, randomized, double-blind, placebo-controlled studies that were designed to assess the effects of lumacaftor (VX-809), a CFTR corrector, in combination with ivacaftor (VX-770), a CFTR potentiator, in patients 12 years of age or older who had cystic fibrosis and were homozygous for the Phe508del CFTR mutation. In both studies, patients were randomly assigned to receive either lumacaftor (600 mg once daily or 400 mg every 12 hours) in combination with ivacaftor (250 mg every 12 hours) or matched placebo for 24 weeks. The primary end point was the absolute change from baseline in the percentage of predicted forced expiratory volume in 1 second (FEV1) at week 24. A total of 1108 patients underwent randomization and received study drug. The mean baseline FEV1 was 61% of the predicted value. In both studies, there were significant improvements in the primary end point in both lumacaftor-ivacaftor dose groups; the difference between active treatment and placebo with respect to the mean absolute improvement in the percentage of predicted FEV1 ranged from 2.6 to 4.0 percentage points (P<0.001), which corresponded to a mean relative treatment difference of 4.3 to 6.7% (P<0.001). Pooled analyses showed that the rate of pulmonary exacerbations was 30 to 39% lower in the lumacaftor-ivacaftor groups than in the placebo group; the rate of events leading to hospitalization or the use of intravenous antibiotics was lower in the lumacaftor-ivacaftor groups as well. The incidence of adverse events was generally similar in the lumacaftor-ivacaftor and placebo groups. The rate of discontinuation due to an adverse event was 4.2% among patients who received lumacaftor-ivacaftor versus 1.6% among those who received placebo. These data show that lumacaftor in

  18. The Geologic and Geochemical Setting of Lago Fagnano, Tierra del Fuego, Argentina

    NASA Astrophysics Data System (ADS)

    Tingle, D.; Odle, K.; Knettel, P.; Redding, S.; Perry, E.; Ellins, K.; Ormiston, C.; Dovzak, N.; Anderson, S.

    2005-12-01

    Lago Fagnano, Tierra del Fuego, Argentina is the largest and southernmost ice-free lake on Earth. The isolated lake is unique because the geographic and geologic context provides information relating to the westerly wind patterns, interaction of multiple water sources (hot springs, glacial meltwater, precipitation, groundwater), and tectonic dynamics along a major transform fault. In March, 2005, four students and three teachers from Boerne High School, south-central Texas joined scientists from the United States, Argentina and Switzerland engaged in a geophysical survey of this lake. Lago Fagnano potentially contains within its sediments an undisturbed record of the geotectonic and global climate variability of past 20,000 years. The science team imaged the lake floor with a boat specially equipped to collect both high resolution data (high frequency), imaging the upper 10-15 meters of the sediment, and long range data (low frequency), penetrating 100 or more meters into the sediment. The group conducted field research of existing tectonic features at the eastern end of Tierra del Fuego, an activity directly tied to the research objectives of the science team. They also collected water and soil samples to assess chemical and isotopic trends in the Lago Fagnano region. The research performed can help to characterize the modern geochemical setting of the lake. Analyses of dissolved oxygen, NH4+, PO42-, pH (water) and N, P, and pH (soils) demonstrate a link between low nutrient levels and low biodiversity (which was confirmed by observation) in Tierra del Fuego. Water and soil data are incorporated into a database to facilitate comparisons to North American samples collected and analyzed during the Boerne High School summer field courses. Twenty-three ^18O and ^D analyses yielded a south-north isotopic trend across the Lago Fagnano region. ^18O and ^D transition from -11.92 to -3.53% and -87.81 to -40.26%, respectively, moving south to the Beagle Channel. These

  19. Anticipating and training for the worst-case metabolic scenario: a comment on Del Vecchio, Hirata, and Franchini (2011).

    PubMed

    Amtmann, John

    2012-02-01

    Del Vecchio, Hirata, and Franchini (2011) studied the effort: pause ratio of mixed martial arts by analyzing 26 bouts in two separate mixed martial arts events in Sao Paulo, Brazil. They referenced research identifying effort:pause ratios from other combat sports ranging from 10:1 (Brazilian Jiu Jitsu), 2:1 (judo and wrestling), and 1:3/1:4 (taekwondo). The authors identified an effort:pause ratio ranging from 1:2 to 1:4 in the bouts they analyzed, and suggested and described training programs that resemble this ratio. It is important for coaches to anticipate the most challenging metabolic mixed martial arts scenario and to create training programs that mimic that profile. Del Vecchio and associates' research is an important first step in gathering information which can help enhance training programs for injury prevention and performance enhancement.

  20. El Mejoramiento de la Efectividad del Personal de las Diferentes Unidades del Ejrcito de Guatemala Involucradas en la Integracin de Contingentes Desplegados en Diferentes Misiones de Paz de la Organizacin de las Naciones Unidas (Improving the Effectiveness of Guatemalan Army Units that Provide Soldiers to Units Deployed in United Nations Peace Missions)

    DTIC Science & Technology

    2017-06-09

    del Ejército de EE.UU. Colegio de Comando y Estado Mayor en el cumplimiento parcial de los requisitos para el grado de MAESTRÍA EN CIENCIAS Y...Rev. 8-98) Prescribed by ANSI Std. Z39.18 iii MAESTRÍA EN CIENCIAS Y ARTES MILITARES PAGINA DE APROBACIÓN DE LA TESIS Name of Candidate: Major... Ciencias Militares. A mi honorable comité de tesis, Doctor Edwin Roldán, Coronel Francisco Rivera Pérez del Ejército de Guatemala y al Mayor Rafael

  1. 75 FR 44720 - Safety Zone; Live-Fire Gun Exercise, M/V Del Monte, James River, VA

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-29

    ...-AA00 Safety Zone; Live-Fire Gun Exercise, M/V Del Monte, James River, VA AGENCY: Coast Guard, DHS... mariners from the hazards associated with live fire and explosive training events. DATES: This rule is... Hampton Roads was notified that the U.S. Navy will conduct a live fire and explosive training event...

  2. Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6.

    PubMed

    Balasov, Maxim; Akhmetova, Katarina; Chesnokov, Igor

    2015-11-01

    Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, primordial dwarfism, small ears, and skeletal abnormalities. Patients with MGS often carry mutations in the genes encoding the components of the pre-replicative complex such as Origin Recognition Complex (ORC) subunits Orc1, Orc4, Orc6, and helicase loaders Cdt1 and Cdc6. Orc6 is an important component of ORC and has functions in both DNA replication and cytokinesis. Mutation in conserved C-terminal motif of Orc6 associated with MGS impedes the interaction of Orc6 with core ORC. In order to study the effects of MGS mutation in an animal model system we introduced MGS mutation in Orc6 and established Drosophila model of MGS. Mutant flies die at third instar larval stage with abnormal chromosomes and DNA replication defects. The lethality can be rescued by elevated expression of mutant Orc6 protein. Rescued MGS flies are unable to fly and display multiple planar cell polarity defects. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  3. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome.

    PubMed

    Rosa, Francisco; Coutinho, Miguel Bebiano; Ferreira, João Pinto; Sousa, Cecilia Almeida

    2016-01-01

    The aim of this study was to assess the main ear malformations, hearing loss and auditory rehabilitation in children with Treacher Collins syndrome. We performed a retrospective study of 9 children with Treacher Collins syndrome treated in a central hospital between January 2003 and January 2013. This study showed a high incidence of malformations of the outer and middle ear, such as microtia, atresia or stenosis of the external auditory canal, hypoplastic middle ear cavity, dysmorphic or missing ossicular chain. Most patients had bilateral hearing loss of moderate or high degree. In the individuals studied, there was functional improvement in patients with bone-anchored hearing aids in relation to conventional hearing aids by bone conduction. Treacher Collins syndrome is characterized by bilateral malformations of the outer and middle ear. Hearing rehabilitation in these children is of utmost importance, and bone-anchored hearing aids is the method of choice. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  4. The active quiescence of HR Del (Nova Del 1967). The ex-nova HR Del

    NASA Astrophysics Data System (ADS)

    Selvelli, P.; Friedjung, M.

    2003-04-01

    This new UV study of the ex-nova HR Del is based on all of the data obtained with the International Ultraviolet Explorer (IUE) satellite, and includes the important series of spectra taken in 1988 and 1992 that have not been analyzed so far. This has allowed us to make a detailed study of both the long-timescale and the short-timescale UV variations, after the return of the nova, around 1981-1982, to the pre-outburst optical magnitude. After the correction for the reddening (EB-V=0.16), adopting a distance d =850 pc we have derived a mean UV luminosity close to LUV ~ 56 Lsun, the highest value among classical novae in ``quiescence". Also the ``average" optical absolute magnitude (Mv=+2.30) is indicative of a bright object. The UV continuum luminosity, the HeII 1640 Å emission line luminosity, and the optical absolute magnitude all give a mass accretion rate dot {M} very close to 1.4x 10-7 Msun yr-1, if one assumes that the luminosity of the old nova is due to a non-irradiated accretion disk. The UV continuum has declined by a factor less than 1.2 over the 13 years of the IUE observations, while the UV emission lines have faded by larger factors. The continuum distribution is well fitted with either a black body of 33 900 K, or a power-law Flambda ~ lambda -2.20. A comparison with the grid of models of Wade & Hubeny (\\cite{Wade}) indicates a low M1 value and a relatively high dot {M} but the best fittings to the continuum and the line spectrum come from different models. We show that the ``quiescent" optical magnitude at mv ~ 12 comes from the hot component and not from the companion star. Since most IUE observations correspond to the ``quiescent" magnitude at mv ~ 12, the same as in the pre-eruption stage, we infer that the pre-nova, for at least 70 years prior to eruption, was also very bright at near the same LUV, Mv, dot {M}, and T values as derived in the present study for the ex-nova. The wind components in the P Cyg profiles of the CIV 1550 Å and NV 1240

  5. Combinación de Valores de Longitud del Día (LOD) según ventanas de frecuencia

    NASA Astrophysics Data System (ADS)

    Fernández, L. I.; Arias, E. F.; Gambis, D.

    El concepto de solución combinada se sustenta en el hecho de que las diferentes series temporales de datos derivadas a partir de distintas técnicas de la Geodesia Espacial son muy disimiles entre si. Las principales diferencias, fácilmente detectables, entre las distintas series son: diferente intervalo de muestreo, extensión temporal y calidad. Los datos cubren un período reciente de 27 meses (julio 96-oct. 98). Se utilizaron estimaciones de la longitud del día (LOD) originadas en 10 centros operativos del IERS (International Earth Rotation Service) a partir de las técnicas GPS (Global Positioning System) y SLR (Satellite Laser Ranging). La serie temporal combinada así obtenida se comparó con la solución EOP (Parámetros de la Orientación Terrestre) combinada multi-técnica derivada por el IERS (C04). El comportamiento del ruido en LOD para todas las técnicas mostró ser dependiente de la frecuencia (Vondrak, 1998). Por esto, las series dato se dividieron en ventanas de frecuencia, luego de haberles removido bies y tendencias. Luego, se asignaron diferentes factores de peso a cada ventana discriminando por técnicas. Finalmente estas soluciones parcialmente combinadas se mezclaron para obtener la solución combinada final. Sabemos que la mejor solución combinada tendrá una precisión menor que la precisión de las series temporales de datos que la originaron. Aun así, la importancia de una serie combinada confiable de EOP, esto es, de una precisión aceptable y libre de sistematismos evidentes, radica en la necesidad de una base de datos EOP de referencia para el estudio de fenómenos geofísicos que motivan variaciones en la rotación terrestre.

  6. Sensitivity to systemic therapy for metastatic breast cancer in CHEK2 1100delC mutation carriers.

    PubMed

    Kriege, Mieke; Jager, Agnes; Hollestelle, Antoinette; Berns, Els M J J; Blom, Jannet; Meijer-van Gelder, Marion E; Sieuwerts, Anieta M; van den Ouweland, Ans; Collée, J Margriet; Kroep, Judith R; Martens, John W M; Hooning, Maartje J; Seynaeve, Caroline

    2015-10-01

    The role of CHEK2 in DNA repair by homologous recombination suggests that CHEK2-associated breast cancer (BC) patients might be more sensitive to chemotherapy inducing double-strand DNA breaks, but results hereon are lacking. We compared the sensitivity to first-line chemotherapy and endocrine therapy between CHEK2 1100delC and non-CHEK2 metastatic breast cancer (MBC) patients. Sixty-two CHEK2 1100delC MBC patients were selected from three cohorts genotyped for CHEK2 1100delC (one non-BRCA1/2 cohort and two sporadic cohorts). Controls were 62 non-CHEK2 MBC patients, matched for age at and year of primary BC diagnosis, and year of metastatic disease. Objective response rate (complete and partial response) to, and progression-free survival (PFS) and overall survival (OS) after start of first-line chemotherapy and endocrine therapy were compared between CHEK2 and non-CHEK2 patients. Median age at BC diagnosis was 46 and 51 years at MBC diagnosis. First-line chemotherapy consisted of anthracycline-based chemotherapy (n = 73), taxanes (n = 16), CMF(-like) chemotherapy (n = 33) and taxane/anthracycline regimens (n = 2). CHEK2 and non-CHEK2 patients had a comparable objective response rate (44 vs. 52 %). Also, PFS and OS after start of chemotherapy were comparable between both patient groups (hazard ratio 0.91; 95 % confidence interval 0.63-1.30 and 1.03; 95 % CI 0.71-1.49, respectively). Thirty-six CHEK2 and 32 non-CHEK2 patients received first-line endocrine therapy (mainly tamoxifen) for MBC. No significant differences were observed in objective response rate to, and PFS and OS after start of endocrine therapy. No differential efficacy of chemotherapy and endocrine therapy given for MBC was observed in CHEK2 versus non-CHEK2 patients.

  7. Role of the microbial population on the flavor of the soft-bodied cheese Torta del Casar.

    PubMed

    Ordiales, Elena; Martín, Alberto; Benito, María José; Hernández, Alejandro; Ruiz-Moyano, Santiago; Córdoba, María de Guía

    2013-09-01

    The purpose of this work was to investigate the influence of the spontaneous microbial population on the flavor of Torta del Casar cheese. A total of 16 batches of cheeses with different microbial qualities were used. Their physicochemical and microbial characteristics were evaluated during ripening and then related with the volatile compounds, taste, and flavor properties of the finished cheeses. Acids were the most abundant volatile compounds, followed by alcohols and carbonyls. The amount of acetic acid and several alcohols were linked to cheeses with higher counts of lactic acid bacteria (LAB), whereas Enterobacteriaceae counts were associated with semivolatile fatty acids. The gram-positive catalase-positive cocci counts were correlated with esters and methyl ketones. Although the role of the LAB in the flavor development of Torta del Casar is the most relevant, other microbial groups are necessary to impart the flavor of the cheese and to minimize the possible off-flavor derived from excessive concentrations of LAB metabolites, such as acetic acid. Copyright © 2013 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  8. Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family.

    PubMed

    Koc, A; Pronk, J C; Alikasifoglu, M; Joenje, H; Altay, C

    1999-01-01

    Four Fanconi anaemia group A (FAA) patients within two related consanguineous families are presented: the propositus (male, 13 years, transplanted at age 10), and his three cousins (one male, 8 years, and two female newborns). Assignment of the patients to FAA was based on the functional complementation analysis by somatic cell hybridization and confirmed by mutation screening showing a homozygous deletion of exon 43 (4267-4404del) in the FAA gene to be present in all four patients. The newborn patients had been diagnosed prenatally by DNA analysis. In spite of identical molecular pathology and close familial relationship the clinical phenotypes of the four patients were not concordant. Discordant symptoms included birthweight, pigmentation abnormalities, skeletal, renal and genital abnormalities, whereas microcephaly and possibly the haematological course were concordant. Differences in environmental conditions and/or genetic make-up along with chance effects during development may explain discordant phenotypes despite identical molecular pathology in these patients. However, our results do not rule out the possibility that the exon 43del mutation may have prognostic value for the haematological course of the disease.

  9. Aceptabilidad del diagnóstico rápido casero para HIV entre hombres gay y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires

    PubMed Central

    Balán, Iván C.; Carballo-Diéguez, Alex; Marone, Rubén O.; Pando, María A.; Barreda, Victoria; Ávila, María M.

    2011-01-01

    Resumen El uso del diagnóstico rápido para HIV en Argentina, así como otros países de Latinoamérica, ha sido limitado hasta el momento. Este trabajo reporta los resultados provenientes de un estudio cualitativo realizado entre hombres gays y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires, Argentina. El objetivo principal del mismo fue conocer las ventajas y desventajas que los hombres G&HSH perciben en relación al diagnóstico rápido casero para HIV. Se realizaron ocho grupos focales con 73 participantes en los cuales se discutió acerca de las ventajas y desventajas del uso de los diagnósticos rápidos. Las respuestas fueron codificadas utilizando un programa para análisis de datos cualitativos (NVivo) y analizadas temáticamente. Los participantes describieron numerosas ventajas sobre el uso del diagnóstico rápido casero, aunque algunos reportaron importantes preocupaciones dentro de las cuales se destaca la posibilidad de impulsos suicidas si alguien recibe un resultado positivo estando solo. En términos generales se observó una gran aceptabilidad para el uso del diagnóstico rápido si el mismo es realizado por personal de salud en lugares acondicionados para este fin. PMID:25284951

  10. Aceptabilidad del diagnóstico rápido casero para HIV entre hombres gay y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires.

    PubMed

    Balán, Iván C; Carballo-Diéguez, Alex; Marone, Rubén O; Pando, María A; Barreda, Victoria; Avila, María M

    2011-03-01

    El uso del diagnóstico rápido para HIV en Argentina, así como otros países de Latinoamérica, ha sido limitado hasta el momento. Este trabajo reporta los resultados provenientes de un estudio cualitativo realizado entre hombres gays y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires, Argentina. El objetivo principal del mismo fue conocer las ventajas y desventajas que los hombres G&HSH perciben en relación al diagnóstico rápido casero para HIV. Se realizaron ocho grupos focales con 73 participantes en los cuales se discutió acerca de las ventajas y desventajas del uso de los diagnósticos rápidos. Las respuestas fueron codificadas utilizando un programa para análisis de datos cualitativos (NVivo) y analizadas temáticamente. Los participantes describieron numerosas ventajas sobre el uso del diagnóstico rápido casero, aunque algunos reportaron importantes preocupaciones dentro de las cuales se destaca la posibilidad de impulsos suicidas si alguien recibe un resultado positivo estando solo. En términos generales se observó una gran aceptabilidad para el uso del diagnóstico rápido si el mismo es realizado por personal de salud en lugares acondicionados para este fin.

  11. Distribución del continuo ultravioleta e infrarrojo en estrellas Be

    NASA Astrophysics Data System (ADS)

    Cruzado, A.; Ringuelet, A.; di Rocco, H.

    Estamos interesados en interpretar los excesos de flujo infrarrojo y/o ultravioleta observados en estrellas Be con respecto al de estrellas B normales, así como su posible correlación. Una envoltura rodeando la estrella distingue una estrella Be de una B normal; para explicar las observaciones es necesario entonces tener en cuenta todos los posibles procesos físicos que en ella tienen lugar. Adoptando un modelo atmosférico específico, hemos estudiado el proceso de recombinación dielectrónica de metales como MgII y FeII, teniendo en cuenta la posible influencia de la opacidad del medio en el flujo emitido.

  12. The Pioneer Anomaly and a Rotating Gödel Universe

    NASA Astrophysics Data System (ADS)

    Wilson, Thomas

    The Pioneer Anomaly represents an intriguing problem for fundamental physics whose scope still seems to baffle the best of explanations. It involves one of the most precise fine-scale acceleration measurements possible in the space age as the Pioneer 10/11 spacecraft reached distances of 20-70 AU from the Sun. An anomalous acceleration directed back toward the Sun of ˜8x10-10 m/s2 was discovered. The problem will be summarized and an up-to-date overview of possible explanations for this surprising result will be given. It may even be possible that our cosmic environment such as expansion dynamics and/or dark energy could be influencing the behavior of planets and spacecrafts within our local solar system. Then a new possibility, that of a rotating G¨del Universe, will be introduced and examined. o

  13. Anatomic and Radiologic Study of Renal Avascular Plane (Brödel's Line) and Its Potential Relevance on Percutaneous and Surgical Approaches to the Kidney.

    PubMed

    Macchi, Veronica; Picardi, Edgardo; Inferrera, Antonino; Porzionato, Andrea; Crestani, Alessandro; Novara, Giacomo; De Caro, Raffaele; Ficarra, Vincenzo

    2018-02-01

    The aim of the present anatomic and radiologic study was to evaluate the location, extension, and characteristics of the Brödel's plane and eventually define its different patterns. We evaluated 15 human normal kidneys sampled from unembalmed cadavers without clinical history or anatomical evidence of renal diseases. Kidneys with the surrounding perirenal fat tissue were removed en bloc with the abdominal segment of the aorta. The renal artery was injected with acrylic and radiopaque resins. A CT examination of the injected kidneys was performed. After the imaging acquisition, the specimens were treated with sodium hydroxide for removal of the parenchyma to obtain the vascular casts. All the CT images were elaborated using dedicated three-dimensional (3D) software with the aim to improve the possibility to identify the Brödel's plane. The avascular plane was identified directly on the vascular casts and confirmed on the corresponding 3D images. The avascular plane was located in all cases medially to the lateral convex border of the kidneys. The recorded mean distance was 2.04 cm (range 1.8-2.4 cm). Three patterns of distribution of the Brödel's line were identified. In five (33.3%) cases the avascular plane was extended from the apical to the inferior segment of the kidneys (type 1); in six (40%) from the superior to the inferior segment (type 2); and in four (26.7%) from the apical to the middle segment (type 3). Fourth and fifth order vessels crossing the Brödel's line were detected in all the analyzed cases. The renal avascular plane showed a different extension allowing us to cluster three different patterns. Preoperative identification of the Brödel's line patterns could help surgeons to minimize hemorrhagic complications during percutaneous and surgical procedures requiring an incision of the renal parenchyma such as traditional or robot-assisted nephrolithotomy or partial nephrectomy for endophytic renal tumors. Radiologic studies validated that

  14. Neurofibromatosis 1 prevalence in children aged 9-11 years, Pinar del Río Province, Cuba.

    PubMed

    Orraca, Miladys; Morejón, Griselda; Cabrera, Niurka; Menéndez, Reinaldo; Orraca, Odalys

    2014-01-01

    INTRODUCTION Neurofibromatosis 1 is one of the most common heritable genetic disorders in humans. It is characterized by formation of neurofibromas, with marked variability in expression. Half the cases are due to autosomal dominant inheritance; the rest arise from de novo mutations. Prevalence varies by population, and prevalence in Cuba is unknown. OBJECTIVE Determine the prevalence of neurofibromatosis 1 in a population of Cuban children aged 9-11 years old in Pinar del Río Province, Cuba. METHODS A descriptive cross-sectional study was carried out in Pinar del Río Province in 2004, in which 19,392 children were assessed for neurofibromatosis 1. The study was conducted in two phases: the first, a survey of the entire population aged 9-11 years by genetic counselors in the province's schools; the second, assessment by clinical geneticists of children who met criteria for referral to the Provincial Medical Genetics Center. Neurofibromatosis 1 cases and first-degree relatives were examined to identify the origin of the mutation (de novo or inherited). Neurofibromatosis 1 prevalence was calculated, as well as history of a first-degree relative with the disease and frequency of several principal clinical signs-café au lait spots, freckles in places unexposed to sunlight, presence of neurofibromas, Lisch nodules and characteristic bone lesions. RESULTS Of the eligible population, 99.3% was screened (10,034 boys and 9358 girls). Active case finding resulted in referral of 200 children to medical geneticists and the disease was confirmed in 17, for a prevalence of one case per 1141 children aged 9-11 years old. Café au lait spots were the most frequent sign (100%), followed by freckles in areas unexposed to sunlight (82.4%) and characteristic bone lesions (41.2%). Only 4 of the 17 cases were previously being treated for the disease. CONCLUSIONS Neurofibromatosis 1 has high prevalence in the group studied in Pinar del Rio Province and most cases are not detected in

  15. Analysis of uniparental lineages in two villages of Santiago Del Estero, Argentina, seat of Pueblos de Indios in colonial times.

    PubMed

    Pauro, Maia; García, Angelina; Nores, Rodrigo; Demarchi, Darío A

    2013-10-01

    Based on the analysis of the mitochondrial control region and seven biallelic markers of the Y chromosome, we investigated the genetic composition of two rural populations of southern Santiago del Estero, Argentina, that were seats in colonial times of pueblos de indios, a colonial practice that consisted of concentrating the indigenous populations in organized and accessible settlements, to facilitate Christianizing and policing. We found the Native American Y chromosome haplogroup Q1a3a in only 11% (3 of 27) of the males. Haplogroup R, common in European populations, is the most frequent haplogroup in Santiago del Estero (55%). In contrast, the persistence of Native American maternal lineages is extremely high (95%). This finding is most likely due to the low incidence in that region of the 20th century European wave of migration and to the existence of pueblos de indios from 1612 to the first decades of the 19th century. In contrast to archeological records that suggest Santiago del Estero late pre-Hispanic groups were strongly influenced by the Andean world, we did not find genetic evidence in support of significant gene fl ow. On the other hand, these populations share many mitochondrial DNA hypervariable region I (HVRI) haplotypes with other populations from the Sierras Pampeanas (particularly with Córdoba) and the Gran Chaco regions. Copyright © 2014 Wayne State University Press, Detroit, Michigan 48201-1309.

  16. Spatially controlled Fe and Si isotope variations: an alternative view on the formation of the Torres del Paine pluton

    NASA Astrophysics Data System (ADS)

    Gajos, Norbert A.; Lundstrom, Craig C.; Taylor, Alexander H.

    2016-11-01

    We present new Fe and Si isotope ratio data for the Torres del Paine igneous complex in southern Chile. The multi-composition pluton consists of an approximately 1 km vertical exposure of homogenous granite overlying a contemporaneous 250-m-thick mafic gabbro suite. This first-of-its-kind spatially dependent Fe and Si isotope investigation of a convergent margin-related pluton aims to understand the nature of granite and silicic igneous rock formation. Results collected by MC-ICP-MS show a trend of increasing δ56Fe and δ30Si with increasing silica content as well as a systematic increase in δ56Fe away from the mafic base of the pluton. The marginal Torres del Paine granites have heavier Fe isotope signatures (δ56Fe = +0.25 ± 0.02 2se) compared to granites found in the interior pluton (δ56Fe = +0.17 ± 0.02 2se). Cerro Toro country rock values are isotopically light in both Fe and Si isotopic systems (δ56Fe = +0.05 ± 0.02 ‰; δ30Si = -0.38 ± 0.07 ‰). The variations in the Fe and Si isotopic data cannot be accounted for by local assimilation of the wall rocks, in situ fractional crystallization, late-stage fluid exsolution or some combination of these processes. Instead, we conclude that thermal diffusion or source magma variation is the most likely process producing Fe isotope ratio variations in the Torres del Paine pluton.

  17. Development of an instrumentation plan for the Ohio SPS test pavement (DEL-23-17.48) : final report, October 1994.

    DOT National Transportation Integrated Search

    1994-07-01

    A Specific Pavement Studies (SPS) program, formulated under the Strategic Highway Research Program (SHRP), consists of nine experiments, four of which will be included in this DEL-23 project. Since the basic instrumentation plan proposed by SHRP was ...

  18. Development of an instrumentation plan for the Ohio SPS test pavement (DEL-23-17.48) : executive summary, July 1994.

    DOT National Transportation Integrated Search

    1994-07-01

    A Specific Pavement Studies (SPS) program, formulated under the Strategic Highway Research Program (SHRP), consists of nine experiments, four of which will be included in this DEL-23 project. Since the basic instrumentation plan proposed by SHRP was ...

  19. Pathogenicity of Phytophthora austrocedrae on Austrocedrus chilensis and its relation with mal del ciprés in Patagonia

    Treesearch

    A. G. Greslebin; E. M. Hansen

    2010-01-01

    Field observations, isolations and pathogenicity tests were performed on Austrocedrus chilensis (Cupressaceae) trees to determine the pathogenicity of Phytophthora austrocedrae and its role in the aetiology of the cypress disease mal del ciprés (MDC) in Argentina. It was found that P. austrocedrae...

  20. Concepciones Alternativas de "Fotosintesis" en estudiantes Universitarios del curso basico de Biologia y posibles correcciones con el Modelo Educativo MODEF

    NASA Astrophysics Data System (ADS)

    De Jesus Roman, Sandra

    Concepciones Alternativas de Fotosíntesis en estudiantes Universitariosdel curso básico de Biología y posibles correcciones con el Modelo Educativo MODEF El modelo educativo para la enseñanza de Fotosíntesis (MODEF) se implantó para trabajar el problema de las concepciones alternativas (CA) en un curso de Biología General. Se evaluaron los resultados en cuanto al logro del aprendizaje significativo. La pregunta central de la investigación fue: ¿Cómo aporta el modelo educativo en la didáctica y comprensión del tema de fotosíntesis? Se efectuó una investigación acción con una fase cuantitativa y una cualitativa. Para la fase cuantitativa se elaboró una prueba para determinar las concepciones alternativas, se validó y se sometió a los estudiantes que participaron en el estudio antes y después de ofrecer la unidad de metabolismo celular. Los participantes eran estudiantes de primer año de la Universidad de Puerto Rico en Bayamón (UPRB). Se llevó a cabo un análisis de consistencia interna de la prueba mediante el método Alfa de Cronbach. Se analizaron las contestaciones a cada pregunta mediante la prueba de Ji cuadrado de contingencia, se efectuó la prueba de t y el coeficiente r de Pearson. La fase cualitativa incluyó la observación participativa de la investigadora- profesora, las reflexiones de los estudiantes y la información de las entrevistas semi-estructuradas que se realizaron a tres estudiantes del curso. El análisis se llevó a cabo mediante el Modelo de Wolcott. Se trabajaron diez CA de las cuales siete fueron corregidas mediante el Modelo MODEF. Las actividades más importantes para el proceso de aprendizaje incluyeron el trabajo de investigación o búsqueda de información para hacer una presentación digital, la elaboración de tablas, los mapas de conceptos, el uso de visuales o videos y las analogías para explicar conceptos o procesos. En conclusión: se recomienda el uso del Modelo MODEF para la discusión del tema de

  1. Descriptions and records of Cladiopsocidae and Dolabellopsocidae (Insecta: Psocodea: 'Psocoptera') from Valle del Cauca and National Natural Park Gorgona, Colombia.

    PubMed

    Calderón-Martínez, Nadia R; González-Obando, Ranulfo; Aldrete, Alfonso N García

    2014-11-28

    The results of a survey on the species diversity of the families Cladiopsocidae and Dolabellopsocidae (Psocodea: 'Psocoptera': Psocomorpha: Epipsocetae) in Valle del Cauca and in the National Natural Park (NNP) Gorgona, Colombia, are presented. The specimens studied were collected in the context of two scientific projects, in which 12 species in the two families were identified, five in Cladiopsocidae and seven in Dolabellopsocidae. In the first family, Cladiopsocus presented a new record in the country and four new species; in the latter, two genera were identified, Dolabellopsocus, with three new species and two new records, and Isthmopsocus, with two new species. This study presents the description of the nine new species from Valle del Cauca and NNP Gorgona, the new records for Colombia and identification keys to the neotropical species of both families.

  2. CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population.

    PubMed

    Bayram, Süleyman; Topaktaş, Mehmet; Akkız, Hikmet; Bekar, Aynur; Akgöllü, Ersin

    2012-10-01

    The cell cycle checkpoint kinase 2 (CHEK2) protein participates in the DNA damage response in many cell types. Germline mutations in CHEK2 (1100delC, IVS2+1G>A and I157T) have been impaired serine/threonine kinase activity and associated with a range of cancer types. This hospital-based case-control study aimed to investigate whether CHEK2 1100delC, IVS2+1G>A and I157T mutations play an important role in the development of colorectal cancer (CRC) in Turkish population. A total of 210 CRC cases and 446 cancer-free controls were genotyped for CHEK2 mutations by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific-polymerase chain reaction (AS-PCR) methods. We did not find the CHEK2 1100delC, IVS2+1G>A and I157T mutations in any of the Turkish subjects. Our result demonstrate for the first time that CHEK2 1100delC, IVS2+1G>A and I157T mutations have not been agenetic susceptibility factor for CRC in the Turkish population. Overall, our data suggest that genotyping of CHEK2 mutations in clinical settings in the Turkish population should not be recommended. However, independent studies are need to validate our findings in a larger series, as well as in patients of different ethnic origins. Copyright © 2012 Elsevier Ltd. All rights reserved.

  3. Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

    PubMed Central

    2013-01-01

    Background Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome. In many cases, the mutant protein retains function if it can be trafficked to its proper cellular location. We have identified structurally diverse correctors that restore the trafficking and function of the most common mutation causing cystic fibrosis, F508del-CFTR. Most of these correctors do not act directly as ligands of CFTR, but indirectly on other pathways to promote folding and correction. We hypothesize that these proteostasis regulators may also correct other protein trafficking diseases. Methods To test our hypothesis, we used stable cell lines or transient transfection to express 2 well-studied trafficking disease mutations in each of 3 different proteins: the arginine-vasopressin receptor 2 (AVPR2, also known as V2R), the human ether-a-go-go-related gene (KCNH2, also known as hERG), and finally the sulfonylurea receptor 1 (ABCC8, also known as SUR1). We treated cells expressing these mutant proteins with 9 structurally diverse F508del-CFTR correctors that function through different cellular mechanisms and assessed whether correction occurred via immunoblotting and functional assays. Results were deemed significantly different from controls by a one-way ANOVA (p < 0.05). Results Here we show that F508del-CFTR correctors RDR1, KM60 and KM57 also correct some mutant alleles of other protein trafficking diseases. We also show that one corrector, the cardiac glycoside ouabain, was found to alter the glycosylation of all mutant alleles tested. Conclusions Correctors of F508del-CFTR trafficking might have broader applications to other protein trafficking diseases. PMID:23316740

  4. EJERCICIO Y LA DETECCION DEL MAL AGUDO DE MONTAÑA GRAVE

    PubMed Central

    Garófoli, Adrián; Montoya, Paola; Elías, Carlos; Benzo, Roberto

    2012-01-01

    El Mal Agudo de Montaña (MAM) es un conjunto de síntomas inespecíficos padecidos por sujetos que ascienden rápidamente desde baja a alta altura sin adecuada aclimatación. Usualmente es autolimitado, pero las formas graves (edema pulmonar y cerebral) pueden causar la muerte. La hipoxemia exagerada en reposo está relacionada con el desarrollo de MAM pero su valor predictivo es limitado. Dado que el ejercicio en altura se acompaña de mayor hipoxemia y síntomas, postulamos el valor predictivo de un simple test de ejercicio para pronosticar MAM grave. Se estudió el valor predictivo de la saturación de oxígeno en reposo y ejercicio submáximo a 2 700m y 4 300m en 63 sujetos que ascendían al cerro Aconcagua (6 962m). Se consideró desaturación de oxígeno con ejercicio a una disminución >=5% respecto al reposo. Se utilizó la escala de Lake-Louise para establecer la presencia de MAM grave. 6 sujetos presentaron MAM grave (9.5%) y requirieron evacuación. La saturación de oxígeno en reposo a 2 700m no fue significativa para clasificar sujetos que luego desarrollaron MAM grave. Por el contrario, la asociación de desaturación durante el ejercicio a 2 700m más la saturación inapropiada en reposo a 4 300m fue significativa para clasificar a los sujetos que desarrollaron MAM grave con un valor predictivo positivo de 80% y un valor predictivo negativo del 97%. Nuestros resultados son relevantes para el montañismo y sugieren la adición de un simple test de ejercicio en la predicción del MAM grave. PMID:20228017

  5. Comprension de los conceptos de los enlaces ionico y covalente en estudiantes universitarios del primer curso de quimica general

    NASA Astrophysics Data System (ADS)

    Ballesteros Benavides, Maria Elvira

    Para este trabajo utilizamos el estudio de casos cualitativo que se llevo a cabo en una universidad privada de Puerto Rico. Empleamos como unidad de analisis el concepto de enlace quimico, ionico y covalente. Los participantes fueron los estudiantes de la seccion nocturna del curso de Quimica General I. La investigacion se desarrollo por medio de dos entrevistas de persona a persona, observaciones de las expresiones no verbales y la hoja de identificacion de conceptos. Para la triangulacion tomamos en consideracion las preconcepciones erroneas, las concepciones alternativas y el mapa de conceptos de cada participante. Preparamos un mapa de conceptos para el enlace quimico validado por un comite de expertos. Tambien, elaboramos los mapas de conceptos de los participantes que sirvieron para varios propositos: conocer la estructura conceptual, expresar los logros, hacer comparaciones e identificar la presencia de concepciones alternativas. Entre los hallazgos encontramos que todos los participantes poseen conocimiento previo de los enlaces quimicos ionico y covalente y dentro de ese conocimiento existen preconcepciones erroneas mas numerosas para el enlace ionico. Al principio del semestre el 50% de los participantes demostraron tener "carencia fuerte de conceptos" tanto para el enlace ionico como para el covalente. Al finalizar el semestre encontramos en el 40% de los participantes concepciones alternativas tanto para el enlace ionico como para el covalente y el 90% no lograron distinguir un enlace del otro. Nuestras conclusiones fueron que los participantes sin distincion del aprovechamiento academico demostraron tener la tendencia de "carencia fuerte de conceptos" tanto para el enlace ionico como para el covalente, presentaron dificultad al integrar los conceptos de los enlaces quimicos ionico y covalente que se pusieron de manifiesto al dar los ejemplos. Las preconcepciones erroneas contribuyen en el desarrollo de las concepciones alternativas. Ademas, los

  6. RASTREO DEL CANCER COLORRECTAL CONOCIMIENTO Y ACTITUD DE LA POBLACION

    PubMed Central

    CASAL, ENRIQUE R.; VELAZQUEZ, ELIZABETH N.; MEJIA, RAUL M.; CUNEO, ALDO; PEREZ-STABLE, ELISEO J.

    2014-01-01

    Resumen El rastreo de cáncer colorrectal (CCR) cuenta con fuertes evidencias en su favor. Datos preliminares indican que a pesar de ello no se lleva a cabo con la frecuencia adecuada. Se intenta aquí determinar, dentro de un Sistema de Salud que cuenta con los recursos necesarios, los elementos que facilitan o generan barreras para concretar esta práctica preventiva, cuántos individuos lo ponen en práctica y qué predice esta conducta. Se realizó una encuesta telefónica a los afiliados de una Obra Social de empleados de la Universidad de Buenos Aires, de los que 132 completaron el cuestionario (tasa de respuesta 70%). Los elementos considerados facilitadores del rastreo obtuvieron respuestas afirmativas en el 64 a 97%, mientras que los que definían barreras un 11 a 27%. En este último grupo, una categoría diferenciada la constituía el miedo a los efectos adversos: 39%, y el sentimiento de vergüenza relacionado con los procedimientos: 30%. Un 33% de los encuestados tenían hecho un método de rastreo, mayoritariamente de sangre oculta (27), sigmoideoscopía (11) y colonoscopía (20). Una mayoría afirmó que “se haría el procedimiento si el médico se lo recomendara” (95%), o “no se lo haría excepto que su médico se lo aconseje” (87%). Contestar afirmativamente que “los médicos hacen lo mejor para los pacientes” se asoció con haberse hecho un método de rastreo de CCR, OR 1.55 (IC 95%: 1.02-2.37) p: 0.04. El grupo de individuos estudiado parece bien predispuesto para el rastreo del CCR, la recomendación médica sería aquí un determinante prominente para ponerlo en práctica. PMID:19414294

  7. Storm surges and coastal impacts at Mar del Plata, Argentina

    NASA Astrophysics Data System (ADS)

    Fiore, Mónica M. E.; D'Onofrio, Enrique E.; Pousa, Jorge L.; Schnack, Enrique J.; Bértola, Germán R.

    2009-07-01

    Positive storm surges (PSS) lasting for several days can raise the water level producing significant differences between the observed level and the astronomical tide. These storm events can be more severe if they coincide with a high tide or if they bracket several tidal cycles, particularly in the case of the highest astronomical tide. Besides, the abnormal sea-level elevation near the coast can cause the highest waves generated to attack the upper beach. This combination of factors can produce severe erosion, threatening sectors located along the coastline. These effects would be more serious if the storm surge height and duration increase as a result of a climatic change. The Mar del Plata (Argentina) coastline and adjacent areas are exposed to such effects. A statistical characterization of PSS based on their intensity, duration and frequency, including a surge event classification, was performed utilizing tide-gauge records over the period 1956-2005. A storm erosion potential index (SEPI) was calculated from observed levels based on hourly water level measurements. The index was related to beach profile responses to storm events. Also, a return period for extreme SEPI values was calculated. Results show an increase in the average number of positive storm surge events per decade. Considering all the events, the last decade (1996-2005) exhibits an average 7% increase compared to each one of the previous decades. A similar behavior was found for the decadal average of the heights of maximum annual positive storm surges. In this case the average height of the last two decades exceeds that of the previous decades by approximately 8 cm. The decadal average of maximum annual duration of these meteorological events shows an increase of 2 h in the last three decades. A possible explanation of the changes in frequency, height and duration of positive storm surges at Mar del Plata would seem to lie in the relative mean sea-level rise.

  8. Adaptación al español y validación de criterio de una escala para la tamización de problemas emocionales y del comportamiento en la primera infancia.

    PubMed

    Cano, Luz Helena; Acosta, María Natalia; Pulido, Adriana

    2018-05-01

    Introducción. La detección temprana del riesgo de problemas emocionales y del comportamiento en niños puede contribuir al desarrollo de estrategias que promuevan la salud mental desde la primera infancia. En Colombia no existe una herramienta validada para dicha detección.Objetivos. Seleccionar, adaptar y establecer la validez de criterio de una escala de tamización de problemas emocionales y del comportamiento en niños menores de seis años.Materiales y métodos. A partir de una revisión de la literatura y un consenso de expertos, se seleccionó la herramienta Early Childhood Screening Assessment (ECSA). Posteriormente, se llevó a cabo su adaptación lingüística y se determinó la validez de criterio mediante una curva de características de recibidor-operador (Receiver Operating Characteristic, ROC), y se la comparó con el cuestionario Child Behavior Checklist (CBCL 1,5-5). En el estudio participaron 206 cuidadores de niños entre el año y medio y los seis años de edad de la ciudad de Tunja y el municipio de Sopó.Resultados. La puntuación del ECSA presentó una buena correlación con la puntuación t total del CBCL 1,5-5 (ro de Spearman=0,75; p<0,01). La escala ECSA tuvo una sensibilidad de 86 % y una especificidad de 82 % al establecer un punto de corte de 24 para la población estudiada.Conclusión. En este primer estudio de adaptación y validación de la versión en español de la escala ECSA, se detectaron buenos valores de sensibilidad y especificidad para la tamización de problemas emocionales y del comportamiento en la primera infancia.

  9. Design of a residential microgrid in Lagos del Cacique, Bucaramanga, Colombia

    NASA Astrophysics Data System (ADS)

    Bellon, D.; González Estrada, O. A.; Martínez, A.

    2017-12-01

    In this paper is presented a model that analyses the options to provide energy to an interconnected house in Lagos del Cacique, Bucaramanga, Colombia. Three power supplies were considered: photovoltaic, 1 kW wind turbine, and a 2.6kW gasoline generator, as well as a battery for energy storage. The variables considered for the sensitivity analysis correspond to the price of gasoline and the variation in loads. The simulation results suggest an optimal configuration of microgrids in generator-photovoltaic panel-battery. Sensitivity variables were specified in order to evaluate the effect of uncertainty. The simulation was done through the Homer software and the results of the combinations of sources are suggestions of the same.

  10. Observation and analysis of pellet material del B drift on MAST

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

    Garzotti, L.; Baylor, Larry R; Kochi, F.

    2010-01-01

    Pellet material deposited in a tokamak plasma experiences a drift towards the low field side of the torus induced by the magnetic field gradient. Plasma fuelling in ITER relies on the beneficial effect of this drift to increase the pellet deposition depth and fuelling efficiency. It is therefore important to analyse this phenomenon in present machines to improve the understanding of the del B induced drift and the accuracy of the predictions for ITER. This paper presents a detailed analysis of pellet material drift in MAST pellet injection experiments based on the unique diagnostic capabilities available on this machine andmore » compares the observations with predictions of state-of-the-art ablation and deposition codes.« less

  11. Structural evolution of the Sarandí del Yí Shear Zone, Uruguay: kinematics, deformation conditions and tectonic significance

    NASA Astrophysics Data System (ADS)

    Oriolo, S.; Oyhantçabal, P.; Heidelbach, F.; Wemmer, K.; Siegesmund, S.

    2015-10-01

    The Sarandí del Yí Shear Zone is a crustal-scale shear zone that separates the Piedra Alta Terrane from the Nico Pérez Terrane and the Dom Feliciano Belt in southern Uruguay. It represents the eastern margin of the Río de la Plata Craton and, consequently, one of the main structural features of the Precambrian basement of Western Gondwana. This shear zone first underwent dextral shearing under upper to middle amphibolite facies conditions, giving rise to the reactivation of pre-existing crustal fabrics in the easternmost Piedra Alta Terrane. Afterwards, pure-shear-dominated sinistral shearing with contemporaneous magmatism took place under lower amphibolite to upper greenschist facies conditions. The mylonites resulting from this event were then locally reactivated by a cataclastic deformation. This evolution points to strain localization under progressively retrograde conditions with time, indicating that the Sarandí del Yí Shear Zone represents an example of a thinning shear zone related to the collisional to post-collisional evolution of the Dom Feliciano Belt that occurred between the Meso- to Neoproterozoic (>600 Ma) and late Ediacaran-lower Cambrian times.

  12. The c.64_80del SMIM1 allele is segregating in the Hutterite population.

    PubMed

    Coghlan, Gail; Zelinski, Teresa

    2016-04-01

    The high-incidence red blood cell (RBC) antigen Vel is coded by SMIM1 (small-membrane molecule 1 gene), where a homozygous 17 base pair deletion underlies the majority of Vel- phenotypes. Because anti-Vel has been reported to cause severe hemolytic transfusion reactions and periodically hemolytic disease of the newborn and fetus, identification of individuals negative for Vel is clinically important. RBCs from the members of a large three-generation Hutterite family were serologically determined to be Vel+(w) . Genomic DNA from these family members was polymerase chain reaction amplified and analyzed for SMIM1 polymorphisms by either Sanger sequencing or restriction fragment length polymorphisms. SMIM1 genotyping was also conducted on DNA from an additional 104 Hutterites. All family members whose RBCs weakly expressed the Vel antigen were found to be heterozygous for the c.64_80del mutation in SMIM1. Of the 104 additional Hutterite samples, four were found to be heterozygous for the same SMIM1 mutation. After emigrating to the United States and Canada, the Hutterite population has expanded dramatically. Alleles that initially entered the population have been maintained within the population. The c.64_80del null allele of SMIM1 is one such allele, thus having implications for transfusion medicine and child or maternal health. © 2015 AABB.

  13. Small molecule correctors of F508del-CFTR discovered by structure-based virtual screening

    NASA Astrophysics Data System (ADS)

    Kalid, Ori; Mense, Martin; Fischman, Sharon; Shitrit, Alina; Bihler, Hermann; Ben-Zeev, Efrat; Schutz, Nili; Pedemonte, Nicoletta; Thomas, Philip J.; Bridges, Robert J.; Wetmore, Diana R.; Marantz, Yael; Senderowitz, Hanoch

    2010-12-01

    Folding correctors of F508del-CFTR were discovered by in silico structure-based screening utilizing homology models of CFTR. The intracellular segment of CFTR was modeled and three cavities were identified at inter-domain interfaces: (1) Interface between the two Nucleotide Binding Domains (NBDs); (2) Interface between NBD1 and Intracellular Loop (ICL) 4, in the region of the F508 deletion; (3) multi-domain interface between NBD1:2:ICL1:2:4. We hypothesized that compounds binding at these interfaces may improve the stability of the protein, potentially affecting the folding yield or surface stability. In silico structure-based screening was performed at the putative binding-sites and a total of 496 candidate compounds from all three sites were tested in functional assays. A total of 15 compounds, representing diverse chemotypes, were identified as F508del folding correctors. This corresponds to a 3% hit rate, tenfold higher than hit rates obtained in corresponding high-throughput screening campaigns. The same binding sites also yielded potentiators and, most notably, compounds with a dual corrector-potentiator activity (dual-acting). Compounds harboring both activity types may prove to be better leads for the development of CF therapeutics than either pure correctors or pure potentiators. To the best of our knowledge this is the first report of structure-based discovery of CFTR modulators.

  14. Receiver Function Analyses of Uturuncu Volcano, Bolivia and Lastarria/Cordon Del Azufre Volcanoes, Chile

    NASA Astrophysics Data System (ADS)

    Mcfarlin, H. L.; Christensen, D. H.; Thompson, G.; McNutt, S. R.; Ryan, J. C.; Ward, K. M.; Zandt, G.; West, M. E.

    2014-12-01

    Uturuncu Volcano and a zone between Lastarria and Cordon del Azufre Volcanoes (also calledLazufre), have seen much attention lately because of significant and rapid inflation of one to twocentimeters per year over large areas. Uturuncu is located near the Bolivian-Chilean border, andLazufre is located near the Chilean-Argentine border. The PLUTONS Project deployed 28broadband seismic stations around Uturuncu Volcano, from April 2009 to Octobor 2012, and alsodeployed 9 stations around Lastarria and Cordon del Azufre volcanoes, from November, 2011 toApril 2013. Teleseismic receiver functions were generated using the time-domain iterativedeconvolution algorithm of Ligorria and Ammon (1999) for each volcanic area. These receiverfunctions were used to better constrain the depths of magma bodies under Uturuncu and Lazufre,as well as the ultra low velocity layer within the Altiplano-Puna Magma Body (APMB). Thelow velocity zone under Uturuncu is shown to have a top around 10 km depth b.s.l and isgenerally around 20 km thick with regional variations. Tomographic inversion shows a well resolved,near vertical, high Vp/Vs anomaly directly beneath Uturuncu that correlates well with adisruption in the receiver function results; which is inferred to be a magmatic intrusion causing alocal thickening of the APMB. Preliminary results at Lazufre show the top of a low velocityzone around 5-10 km b.s.l with a thickness of 15-30 km.

  15. [History of Instituto Nacional de Salud Ocupacional del Peru].

    PubMed

    Cossio-Brazzan, Juan M

    2012-06-01

    In Peru, the industry's development has made economic improvements but at the same time, it has had a major impact on the health of the workers; for that reason, it was necessary to generate control mechanisms. So, in 1940 it was created the Departmento de Higiene Industrial, which in 1956 was changed to Instituto de Salud Ocupacional, but it was deactivated in 1994. However, in 2001 it reappeared into the Ministerio de Salud organizational structure with the name of Instituto de Salud Ocupacional "Alberto Hurtado Abadía". Actually, it is the Centro Nacional de Salud Ocupacional y Protección del Ambiente para la Salud (CENSOPAS), organ of the Instituto Nacional de Salud which continues working in synergy with other institutions and sectors, making research to protect the health of exposed persons (workers and community) to contamination and risks associated with economic activities.

  16. 77 FR 68146 - Notice of Intent To Prepare an Environmental Impact Statement for the Paseo del Morro National...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-15

    ... parallel to the Santa Maria Magdalena Cemetery, the second segment parallel to the community of La Perla... San Juan, protect the historic walls of El Morro, encourage educational tourism within the area. The... involved the community in information gathering for developing a shared vision for the Paseo del Morro...

  17. 33 CFR 207.100 - Inland waterway from Delaware River to Chesapeake Bay, Del. and Md. (Chesapeake and Delaware...

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... River to Chesapeake Bay, Del. and Md., between Reedy Point, Delaware River, and Old Town Point Wharf.... Traffic lights are located at Reedy Point and Old Town Point Wharf. These traffic lights are described in..., jetties, piers, fences, buildings, trees, telephone lines, lighting structures, or any other property of...

  18. Efficacy Outcome Measures for Clinical Trials of USH2A caused by the Common c.2299delG Mutation.

    PubMed

    Calzetti, Giacomo; Levy, Richard A; Cideciyan, Artur V; Garafalo, Alexandra V; Roman, Alejandro J; Sumaroka, Alexander; Charng, Jason; Heon, Elise; Jacobson, Samuel G

    2018-06-25

    To determine the change in vision and retinal structure in patients with the common c.2299delG mutation in the USH2A gene in anticipation of clinical trials of therapy. Retrospective observational case series. Eighteen patients, homozygotes or compound heterozygotes with the c.2299delG mutation in USH2A, were studied with visual acuity, kinetic perimetry, dark- and light-adapted two-color static perimetry, optical coherence tomography (OCT) and autofluorescence (AF) imaging. Serial data were available for at least half of the patients depending on the parameter analyzed. The kinetics of disease progression in this specific molecular form of USH2A differed between the measured parameters. Visual acuity could remain normal for decades. Kinetic and light-adapted static perimetry across the entire visual field had similar rates of decline that were slower than those of rod-based perimetry. Horizontal OCT scans through the macula showed that IS/OS line width had a similar rate of constriction as co-localized AF imaging and cone-based light-adapted sensitivity extent. The rate of constriction of rod-based sensitivity extent across this same region was twice as rapid as that of cones. In patients with the c.2299delG mutation in USH2A, rod photoreceptors are the cells that express disease early and more aggressively than cones. Rod-based vision measurements in central or extracentral-peripheral retinal regions warrant monitoring in order to complete a clinical trial in a timely manner. Copyright © 2018. Published by Elsevier Inc.

  19. The Decline of Austrocedrus Forests in Patagonia (Mal del Ciprés): Another Phytophthora-Caused Forest Disease

    Treesearch

    Alina Greslebin; Everett Hansen

    2009-01-01

    Austrocedrus chilensis, an indigenous Cupressaceae of the Patagonian Andes forests, is suffering a disease that has been called "Mal del Ciprés" (MDC). This disease was first reported more than 50 years ago but, in spite of many studies, its causes remained unclear until recently. The disease begins in the root system, the distribution...

  20. High-Content Surface and Total Expression siRNA Kinase Library Screen with VX-809 Treatment Reveals Kinase Targets that Enhance F508del-CFTR Rescue.

    PubMed

    Perkins, Lydia A; Fisher, Gregory W; Naganbabu, Matharishwan; Schmidt, Brigitte F; Mun, Frederick; Bruchez, Marcel P

    2018-03-05

    The most promising F508del-CFTR corrector, VX-809, has been unsuccessful as an effective, stand-alone treatment for CF patients, but the rescue effect in combination with other drugs may confer an acceptable level of therapeutic benefit. Targeting cellular factors that modify trafficking may act to enhance the cell surface density of F508-CFTR with VX-809 correction. Our goal is to identify druggable kinases that enhance F508del-CFTR rescue and stabilization at the cell surface beyond that achievable with the VX-809 corrector alone. To achieve this goal, we implemented a new high-throughput screening paradigm that quickly and quantitatively measures surface density and total protein in the same cells. This allowed for rapid screening for increased surface targeting and proteostatic regulation. The assay utilizes fluorogen-activating-protein (FAP) technology with cell excluded and cell permeant fluorogenic dyes in a quick, wash-free fluorescent plate reader format on live cells to first measure F508del-CFTR expressed on the surface and then the total amount of F508del-CFTR protein present. To screen for kinase targets, we used Dharmacon's ON-TARGET plus SMARTpool siRNA Kinase library (715 target kinases) with and without 10 μM VX-809 treatment in triplicate at 37 °C. We identified several targets that had a significant interaction with VX-809 treatment in enhancing surface density with siRNA knockdown. Select small-molecule inhibitors of the kinase targets demonstrated augmented surface expression with VX-809 treatment.

  1. Benthodytes violeta, a new species of a deep-sea holothuroid (Elasipodida: Psychropotidae) from Mar del Plata Canyon (south-western Atlantic Ocean).

    PubMed

    Martinez, Mariano I; Solís-Marín, Francisco A; Penchaszadeh, Pablo E

    2014-01-30

    A new species of elasipodid holothuroid, Benthodytes violeta sp. nov., is described from the Mar del Plata Canyon off Buenos Aires Province (around 38ºS-54ºW). It was taken at four locations at depths ranging from 1500 to 1950 m. This new species has a violet gelatinous body of up to 200 mm in length, with eight pairs of dorsal appendages, lateral festooned edges and four rows of tube feet ventrally. Body wall ossicles comprise rods and crosses with three or four arms and a central bipartite apophysis borne on the primary cross; tentacles and gonad deposits comprise rods and crosses with three and four arms. This is the first report of a holothuroid from the Mar del Plata Canyon area.

  2. Strategic Planning for Institutions of Higher Education: A Content Analysis for the Universidad Tecnica del Estado Planning System.

    ERIC Educational Resources Information Center

    Karadima, Oscar

    Ten-year development plans of each of the eight campuses of the Universidad de Santiago de Chile, formerly called Universidad Tecnica del Estado, are evaluated, using content analysis. In addition to narrative descriptions, diagrams illustrate the features of each plan, which covers the period 1983-1993. Topics covered by the plans were grouped…

  3. 3 CFR 8946 - Proclamation 8946 of March 25, 2013. Establishment of the Río Grande del Norte National Monument

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... have seasonally passed through the Río Grande del Norte, gathering resources and finding spiritual... covering the mountain's northern slopes, the diversity of both ecosystems and species allows for, and has..., and American avocets. Several species of bats make their home in the gorge, which also provides...

  4. [Proposal for early detection of ethanol consumption in students of the Universidad Autónoma del Estado de Morelos].

    PubMed

    García-Jiménez, Sara; Erazo-Mijares, Miguel; Toledano-Jaimes, Cairo D; Monroy-Noyola, Antonio; Bilbao-Marcos, Fernando; Sánchez-Alemán, Miguel A; Déciga-Campos, Myrna

    2016-01-01

    The present study determined through analytic techniques the quantification of some biomarkers that have been useful to detect early ethanol consumption in a college population. A group of 117 students of recent entry to the Universidad Autónoma del Estado de Morelos was analyzed. The enzyme determination of aspartate aminotransferase, alanine aminotransferase, and gamma glutamyltransferase as metabolic markers of ethanol, as well as the carbohydrate-deficient transferrin (CDT) detected by high chromatographic liquid (up to 1.8% of CDT), allowed us to identify that 6% of the college population presented a potential risk of alcohol consumption. The use of the biochemical-analytical method overall with the psychological drug and a risk factor instrument established by the Universidad Autónoma del Estado de Morelos permit us to identify students whose substance abuse consumption puts their terminal efficiency at risk as well as their academic level. The timely detection on admission to college can monitor and support a student consumer's substance abuse.

  5. Sintacs Aquifer Vulnerability in the Definition of the Natural Protected Area Los Chorros Del Varal, Los Reyes, Michoacan, Mexico

    NASA Astrophysics Data System (ADS)

    Silva, J.; Ramiro, R.; Estrada, F.; Ochoa, S.

    2006-12-01

    In Michoacan State, Mexico, the use of aquifer vulnerability assessment is been incorporated in the regional policies of aquifer protection. A hydrogeological evaluation and aquifer vulnerability assessment using the SINTACS method was done in the natural protected area, NPA, Los Chorros del Varal in Michoacan State, Central Mexico. This place is a discharge area. An spectacular spring is feeding a stream. The predominant rocks are volcanic. By means of the SINTACS method a contamination risk zoning was obtained. The research permitted the expansion of the protection area of Los Chorros del Varal: a surrounding area to avoid anthropogenic impacts. This NPA is the preferential recharge area of the regional aquifer. This aquifer is the main water supply source for more than 200,000 inhabitants. A high to medium vulnerability was calculated. These vulnerable parts must be protected impeding risky projects such as dumps or industries producing wastewaters. Low values were obtained in clayey environments and also in volcanic rocks with scarce fracturing.

  6. Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia.

    PubMed

    Vavrova, Eva; Kantorova, Barbara; Vonkova, Barbara; Kabathova, Jitka; Skuhrova-Francova, Hana; Diviskova, Eva; Letocha, Ondrej; Kotaskova, Jana; Brychtova, Yvona; Doubek, Michael; Mayer, Jiri; Pospisilova, Sarka

    2017-09-01

    The hotspot c.7541_7542delCT NOTCH1 mutation has been proven to have a negative clinical impact in chronic lymphocytic leukemia (CLL). However, an optimal method for its detection has not yet been specified. The aim of our study was to examine the presence of the NOTCH1 mutation in CLL using three commonly used molecular methods. Sanger sequencing, fragment analysis and allele-specific PCR were compared in the detection of the c.7541_7542delCT NOTCH1 mutation in 201 CLL patients. In 7 patients with inconclusive mutational analysis results, the presence of the NOTCH1 mutation was also confirmed using ultra-deep next generation sequencing. The NOTCH1 mutation was detected in 15% (30/201) of examined patients. Only fragment analysis was able to identify all 30 NOTCH1-mutated patients. Sanger sequencing and allele-specific PCR showed a lower detection efficiency, determining 93% (28/30) and 80% (24/30) of the present NOTCH1 mutations, respectively. Considering these three most commonly used methodologies for c.7541_7542delCT NOTCH1 mutation screening in CLL, we defined fragment analysis as the most suitable approach for detecting the hotspot NOTCH1 mutation. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Renewable energy load assessment for Boquillas Del Carmen Coahuila, Mexico

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

    Foster, R.

    1995-08-01

    This report outlines the estimates that were made in 1992 of the potential load requirements for Boquillas del Carmen, a small Mexican village on the northern border of the state of Coahuila, Mexico near Big Bend National Park in southern Texas. The study was made to help determine the possibility that village might be electrified by solar or wind energy. Various estimates of are given of the potential load based on estimates ranging from basic use of lights, radio, television, and small household appliances to microwave ovens, refrigerators, and direct evaporative coolers. The low-energy consumption case was estimated to bemore » at 23.0 kWh/month per residence per month, and the high-energy consumption case (with cooling) was 140.7 kWh/month per residence. On average, the typical residence is occupied by five individuals.« less

  8. Unusual holocene alluvial record from Rio Del Osos, Jemez Mountains, New Mexico: Paleoclimatic and archaeologic significance

    Treesearch

    Stephen A. Hall; Richard D. Periman

    2007-01-01

    The lower Rio del Oso valley is characterized by a single Holocene terrace that is formed by 3 to 5 m of largely overbank fine quartz sand dated by 22 radiocarbon dates between 4610 and 640 14C yrs BP making this one of the best dated sequences in the region. The alluvium contains seven cumulic A horizon paleosols, 5 to 62 cm thick, a remarkable feature seldom seen in...

  9. Identifying bipolar knapping in the Mesolithic site of Font del Ros (northeast Iberia)

    PubMed Central

    Roda Gilabert, Xavier; Mora, Rafael; Martínez-Moreno, Jorge

    2015-01-01

    Despite recent advances in the identification of bipolar knapping, its role in many sites is not well known. We propose to assess the significance of this technique in the context of changes that occur in the Mesolithic. A lithic assemblage was recovered from unit SG at Font del Ros (Catalunya, Spain) in which pitted stones, cores and products arising from bipolar reduction (flakes, fragments and splintered pieces) were identified. This study indicates that the bipolar technique is fundamental in the settlement. These results are key to defining the organization of Holocene hunter-gatherer subsistence in northeast Iberia. PMID:26483532

  10. Matuyama-age lithic tools from the Sima del Elefante site, Atapuerca (northern Spain).

    PubMed

    Parés, Josep M; Pérez-González, Alfredo; Rosas, Antonio; Benito, A; Bermúdez de Castro, J M; Carbonell, E; Huguet, R

    2006-02-01

    Paleomagnetic results obtained from the sedimentary fill at the Sima del Elefante site in Atapuerca, Spain, reveal a geomagnetic reversal, interpreted as the Matuyama-Brunhes boundary (0.78 Ma). The uppermost lithostratigraphic units (E17 through E19), which contain Mode II and III archaeological assemblages, display normal polarity magnetization, whereas the six lowermost units (E9 through E16) yield negative latitudinal virtual geomagnetic pole positions. Units E9 through E13, all of which display reverse magnetic polarity, contain Mode I (Oldowan) lithic tools, testifying to the presence of humans in the early Pleistocene (0.78-1.77 Ma).

  11. Clinical characteristics and outcomes according to age in lenalidomide-treated patients with RBC transfusion-dependent lower-risk MDS and del(5q).

    PubMed

    Fenaux, Pierre; Giagounidis, Aristoteles; Selleslag, Dominik; Beyne-Rauzy, Odile; Mittelman, Moshe; Muus, Petra; Nimer, Stephen D; Hellström-Lindberg, Eva; Powell, Bayard L; Guerci-Bresler, Agnes; Sekeres, Mikkael A; Deeg, H Joachim; Del Cañizo, Consuelo; Greenberg, Peter L; Shammo, Jamile M; Skikne, Barry; Yu, Xujie; List, Alan F

    2017-06-26

    Particularly since the advent of lenalidomide, lower-risk myelodysplastic syndromes (MDS) patients with del(5q) have been the focus of many studies; however, the impact of age on disease characteristics and response to lenalidomide has not been analyzed. We assessed the effect of age on clinical characteristics and outcomes in 286 lenalidomide-treated MDS patients with del(5q) from two multicenter trials. A total of 33.9, 34.3, and 31.8% patients were aged <65 years, ≥65 to <75 years, and ≥75 years, respectively. Age <65 years was associated with less favorable International Prognostic Scoring System (IPSS) risk and additional cytopenias at baseline versus older age groups, significantly lower cytogenetic response rates (p = 0.022 vs. ≥65 to <75 years; p = 0.047 vs. ≥75 years), and higher rates of acute myeloid leukemia (AML) progression (Gray's test, p = 0.013). Lenalidomide was equally well tolerated across age groups, producing consistently high rates of red blood cell transfusion independence ≥26 weeks. Baseline disease characteristics and AML progression appear to be more severe in younger lower-risk MDS patients with del(5q), whereas older age does not seem to compromise the response to lenalidomide. ClinicalTrials.gov NCT00065156 and NCT00179621.

  12. Analysis of a RECQL splicing mutation, c.1667_1667+3delAGTA, in breast cancer patients and controls from Central Europe.

    PubMed

    Bogdanova, Natalia; Pfeifer, Katja; Schürmann, Peter; Antonenkova, Natalia; Siggelkow, Wulf; Christiansen, Hans; Hillemanns, Peter; Park-Simon, Tjoung-Won; Dörk, Thilo

    2017-04-01

    RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer susceptibility gene. The most common RECQL mutation, the 4 bp-deletion c.1667_1667+3delAGTA, was five-fold enriched in Polish breast cancer patients, but the exact magnitude of the risk is uncertain. We investigated two hospital-based breast cancer case-control series from Belarus and Germany, respectively, comprising a total of 2596 breast cancer patients and 2132 healthy females. The mutation was found in 9 cases and 6 controls, with an adjusted Odds Ratio 1.23 (95% CI 0.44-3.47; p = 0.69) in the combined analysis. Among the cases, heterozygosity for c.1667_1667+3delAGTA was linked with estrogen-receptor positive breast cancer. There was no significant difference in age at diagnosis between carriers and non-carriers, and only one of the carriers reported a first-degree family history. Meta-analysis with the initial study from Poland suggests an about two-fold increase in risk for this mutation (OR 2.51; 95% CI 1.13-5.57, p = 0.02). Altogether, the data indicate that RECQL* c.1667_1667+3delAGTA is not a high-risk mutation for breast cancer though it could represent a moderate-risk breast cancer susceptibility allele. Further studies will be required to determine the clinical significance of testing for this RECQL mutation.

  13. Assessing groundwater recharge in an Andean closed basin using isotopic characterization and a rainfall-runoff model: Salar del Huasco basin, Chile

    NASA Astrophysics Data System (ADS)

    Uribe, Javier; Muñoz, José F.; Gironás, Jorge; Oyarzún, Ricardo; Aguirre, Evelyn; Aravena, Ramón

    2015-11-01

    Closed basins are catchments whose drainage networks converge to lakes, salt flats or alluvial plains. Salt flats in the closed basins in arid northern Chile are extremely important ecological niches. The Salar del Huasco, one of these salt flats located in the high plateau (Altiplano), is a Ramsar site located in a national park and is composed of a wetland ecosystem rich in biodiversity. The proper management of the groundwater, which is essential for the wetland function, requires accurate estimates of recharge in the Salar del Huasco basin. This study quantifies the spatio-temporal distribution of the recharge, through combined use of isotopic characterization of the different components of the water cycle and a rainfall-runoff model. The use of both methodologies aids the understanding of hydrological behavior of the basin and enabled estimation of a long-term average recharge of 22 mm/yr (i.e., 15 % of the annual rainfall). Recharge has a high spatial variability, controlled by the geological and hydrometeorological characteristics of the basin, and a high interannual variability, with values ranging from 18 to 26 mm/yr. The isotopic approach allowed not only the definition of the conceptual model used in the hydrological model, but also eliminated the possibility of a hydrogeological connection between the aquifer of the Salar del Huasco basin and the aquifer that feeds the springs of the nearby town of Pica. This potential connection has been an issue of great interest to agriculture and tourism activities in the region.

  14. Single nucleotide variants and InDels identified from whole-genome re-sequencing of Guzerat, Gyr, Girolando and Holstein cattle breeds.

    PubMed

    Stafuzza, Nedenia Bonvino; Zerlotini, Adhemar; Lobo, Francisco Pereira; Yamagishi, Michel Eduardo Beleza; Chud, Tatiane Cristina Seleguim; Caetano, Alexandre Rodrigues; Munari, Danísio Prado; Garrick, Dorian J; Machado, Marco Antonio; Martins, Marta Fonseca; Carvalho, Maria Raquel; Cole, John Bruce; Barbosa da Silva, Marcos Vinicius Gualberto

    2017-01-01

    Whole-genome re-sequencing, alignment and annotation analyses were undertaken for 12 sires representing four important cattle breeds in Brazil: Guzerat (multi-purpose), Gyr, Girolando and Holstein (dairy production). A total of approximately 4.3 billion reads from an Illumina HiSeq 2000 sequencer generated for each animal 10.7 to 16.4-fold genome coverage. A total of 27,441,279 single nucleotide variations (SNVs) and 3,828,041 insertions/deletions (InDels) were detected in the samples, of which 2,557,670 SNVs and 883,219 InDels were novel. The submission of these genetic variants to the dbSNP database significantly increased the number of known variants, particularly for the indicine genome. The concordance rate between genotypes obtained using the Bovine HD BeadChip array and the same variants identified by sequencing was about 99.05%. The annotation of variants identified numerous non-synonymous SNVs and frameshift InDels which could affect phenotypic variation. Functional enrichment analysis was performed and revealed that variants in the olfactory transduction pathway was over represented in all four cattle breeds, while the ECM-receptor interaction pathway was over represented in Girolando and Guzerat breeds, the ABC transporters pathway was over represented only in Holstein breed, and the metabolic pathways was over represented only in Gyr breed. The genetic variants discovered here provide a rich resource to help identify potential genomic markers and their associated molecular mechanisms that impact economically important traits for Gyr, Girolando, Guzerat and Holstein breeding programs.

  15. Single nucleotide variants and InDels identified from whole-genome re-sequencing of Guzerat, Gyr, Girolando and Holstein cattle breeds

    PubMed Central

    Lobo, Francisco Pereira; Yamagishi, Michel Eduardo Beleza; Chud, Tatiane Cristina Seleguim; Caetano, Alexandre Rodrigues; Munari, Danísio Prado; Garrick, Dorian J.; Machado, Marco Antonio; Martins, Marta Fonseca; Carvalho, Maria Raquel; Cole, John Bruce; Barbosa da Silva, Marcos Vinicius Gualberto

    2017-01-01

    Whole-genome re-sequencing, alignment and annotation analyses were undertaken for 12 sires representing four important cattle breeds in Brazil: Guzerat (multi-purpose), Gyr, Girolando and Holstein (dairy production). A total of approximately 4.3 billion reads from an Illumina HiSeq 2000 sequencer generated for each animal 10.7 to 16.4-fold genome coverage. A total of 27,441,279 single nucleotide variations (SNVs) and 3,828,041 insertions/deletions (InDels) were detected in the samples, of which 2,557,670 SNVs and 883,219 InDels were novel. The submission of these genetic variants to the dbSNP database significantly increased the number of known variants, particularly for the indicine genome. The concordance rate between genotypes obtained using the Bovine HD BeadChip array and the same variants identified by sequencing was about 99.05%. The annotation of variants identified numerous non-synonymous SNVs and frameshift InDels which could affect phenotypic variation. Functional enrichment analysis was performed and revealed that variants in the olfactory transduction pathway was over represented in all four cattle breeds, while the ECM-receptor interaction pathway was over represented in Girolando and Guzerat breeds, the ABC transporters pathway was over represented only in Holstein breed, and the metabolic pathways was over represented only in Gyr breed. The genetic variants discovered here provide a rich resource to help identify potential genomic markers and their associated molecular mechanisms that impact economically important traits for Gyr, Girolando, Guzerat and Holstein breeding programs. PMID:28323836

  16. Incentivos para atraer y retener personal de salud de zonas rurales del Perú: un estudio cualitativo

    PubMed Central

    Huicho, Luis; Canseco, Francisco Díez; Lema, Claudia; Miranda, J. Jaime; Lescano, Andrés G.

    2014-01-01

    El objetivo fue identificar incentivos de atracción y retención en zonas rurales y distantes de Ayacucho, Perú. Fueron realizadas entrevistas en profundidad con 80 médicos, enfermeras, obstetras y técnicos (20 por grupo) de las zonas más pobres y con 11 funcionarios. No existen políticas sistemáticas de atracción y retención de personal de salud en Ayacucho. Los principales incentivos, en orden de importancia, fueron mejoras salariales, oportunidades de formación y capacitación, estabilidad laboral y nombramiento, mejoras en infraestructura y equipos, e incremento del personal. Se mencionaron también mejoras en la vivienda y alimentación, mayor cercanía con la familia y reconocimiento por el sistema de salud. Existen coincidencias y singularidades entre los distintos grupos sobre los incentivos clave para estimular el trabajo rural, que deben considerarse al diseñar políticas públicas. Las iniciativas del Estado deben comprender procesos rigurosos de monitoreo y evaluación, para asegurar que las mismas tengan el impacto deseado. PMID:22488318

  17. Dating the last Neanderthals in Central Iberia - New evidence from Abrigo del Molino, Segovia, Spain

    NASA Astrophysics Data System (ADS)

    Kehl, Martin; Álvarez-Alonso, David; de Andrés-Herrero, María; Díez-Herrero, Andrés; Klasen, Nicole; Rojo-Hernández, Julio; Weniger, Gerd-Christian

    2017-04-01

    The timing of Neanderthal disappearance in the Iberian Peninsula is a hotly debated subject in Palaeolithic archaeology. Several studies suggested a late survival in South and Central Iberia until about 32,000 year ago (ka), but were probably subject to significant age underestimation due to contamination of dating samples and/or lack of stratigraphic integrity. More recently, Late Neanderthal presence was dated to no later than 38 ka. In Central Iberia, few archaeological sites contain Mousterian levels attesting occupation by Neanderthals. The newly discovered rock shelter of Abrigo del Molino contains chronologically well-constraint Mousterian levels, which, according to radiocarbon dating on bone, place the latest Neanderthal occupation to around 42-44 ka and within Greenland interstadial 11. Accumulation of these levels took place after deposition of fluvial and slope sediments, dated to around 46 ± 3.5 ka using luminescence techniques, and probably correlating with Greenland stadial 13 including Heinrich event 5. Micromorphological evidence of banded sediment fabrics suggests frost dynamics pointing to cold climate conditions during that time in Central Spain. Abrigo del Molino thus provides a detailed and chronologically well-constrained record on Late Neanderthal presence and morphodynamic change in Central Iberia during times of millennial-scale climate changes. The site gives further evidence for an early rather than late disappearance of Neanderthals in Iberia.

  18. Análisis de costo de la enfermedad, del tratamiento, las complicaciones e intervenciones de la hipercolesterolemia en México en 2016.

    PubMed

    Baeza-Cruz, German; Peniche-Otero, Gustavo; Alva-Esqueda, Mónica E; Naranjo-Muedano, Mariana; Soria-Suárez, Noé; Morales-Flores, Héctor J

    2018-04-20

    Describir los costos y el impacto económico de la atención de pacientes diagnosticados con hipercolesterolemia en México en el año 2016. METODOLOGíA: Se desarrolla una evaluación económica del tipo análisis de costo de la enfermedad donde se cuantifican los recursos médicos utilizados para el tratamiento de la hipercolesterolemia así como para sus complicaciones. Los costos de los recursos médicos utilizados son obtenidos de los costos unitarios por nivel de atención del Instituto Mexicano del Seguro Social (IMSS) así como de las licitaciones publicadas en el portal de compras del IMSS. El uso de recursos se obtiene mediante un panel de expertos y para el porcentaje de presencia de las complicaciones se efectúa una revisión de literatura. Los costos médicos directos son estimados multiplicando la frecuencia de uso por el costo unitario, agrupándolos y obteniendo así los costos individuales de cada recurso médico. Los casos de hipercolesterolemia en prevención secundaria con enfermedad coronaria y enfermedad cardiovascular representan un mayor costo promedio anual ($111,835.19, D.E. $84,276.37), seguido de la hipercolesterolemia en prevención secundaria con enfermedad coronaria sin enfermedad cardiovascular ($56,352.13, D.E. $29,004.04), los cuales no incluyen los costos generados por las complicaciones. El resto de los grupos de hipercolesterolemia representan una carga económica menor. La carga económica de la hipercolesterolemia representa en promedio por caso al año $258,761.37, esto traducido a los aproximadamente 445,075 de casos diagnosticados y tratados al año representaría un impacto económico en el sistema de salud de más de ciento quince mil millones ($115,168,331,355.11). Copyright © 2018. Published by Elsevier Inc.

  19. Study of the Wall Paintings of the Cenador Del Leon in the Real Alcazar of Seville

    NASA Astrophysics Data System (ADS)

    Robador, Maria Dolores; Mancera, Inmaculada; Perez-Maqueda, Rafael; Albardonedo, Antonio

    2017-10-01

    The paintings on the walls of the Cenador del Leon located in the gardens of the Real Alcazar in Seville next to the Pabellon de Carlos V in the Jardin Ingles area have been studied. The components of the wall paintings cross-sections, which were prepared using small samples taken from the walls of Cenador del Leon, were characterized using infrared spectroscopy (FTIR), X-ray diffraction (XRD) and scanning electron microscopy (SEM) with energy dispersive X-ray (EDX) analysis. The cross-sections of the collected samples indicated that the paint layer is well adhered to the preparation layer without any discontinuity, and only one carbonation layer exists at the top of the sequence of layers. These data suggest that the paint was applied on a fresco surface, and therefore, the adopted technique was fresco. Based on the different elements detected by EDX analysis of the cross-sections, the detected pigments included iron oxides accompanied by clay minerals (or earths) in the red pink, golden yellow and yellow colours, blue smelt for the blue colour and basic copper chloride (atacamite) for the green colour. In one sample, the particles were composed of Ba and S from barium sulphate and Ti and O from rutile titanium oxide due to a modern pigment.

  20. A fox at Torres del Paine National Park in Chile during NASA's AirSAR 2004 campaign

    NASA Image and Video Library

    2004-03-11

    A fox at Torres del Paine National Park in 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.