WorldWideScience

Sample records for microphthalmia persistent hyperplastic

  1. Bilateral persistent hyperplastic primary vitreous

    Directory of Open Access Journals (Sweden)

    Jain Tarun

    2009-01-01

    Full Text Available A case of bilateral persistent hyperplastic primary vitreous (PHPV in a 3-month-old male infant, who had bilateral leukokoria, is presented. The child was referred for imaging with a clinical suspicion of retinoblastoma. Gray-scale ultrasound evaluation revealed an echogenic band in the posterior segment of both globes, extending from the posterior surface of the lens capsule to the optic disc. Doppler examination revealed the presence of arterial flow in the band in both globes. Associated echogenic hemorrhage was also seen, which was confirmed by computed tomography. Most cases of PHPV are sporadic and unilateral, and bilateral PHPV is rare. The imaging features in this case suggest the diagnosis of bilateral PHPV and differentiate it from retinoblastoma. This entity, although infrequent, should be considered in the differential diagnosis while evaluating bilateral leukokoria.

  2. Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

    Science.gov (United States)

    Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

    2016-10-01

    Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

  3. Persistent hyperplastic primary vitreous: imaging evaluation

    International Nuclear Information System (INIS)

    Jacob, Beatriz Mahmud; Teixeira, Kim-Ir-Sen Santos; Figueiredo, Sizenildo da Silva; Nobrega, Bruno Barcelos da

    2003-01-01

    Persistent hyperplastic primary vitreous (PHPV) is a congenital developmental anomaly of the eye that primarily affects premature infants. PHPV results from failure of regression of the embryogenic primary vitreous and hyaloid vasculature, and proliferation of connective tissue. Three types of PHPV may be found: anterior, posterior and a combination of anterior and posterior. The clinical findings include leukocoria (white pupillary reflex) and microphthalmic eye. This anomaly is usually unilateral and unassociated with other systemic findings. The differential diagnosis between PHPV and other ocular diseases may be difficult due to similar features such as leukocoria, detached retina, retinal folds and cataract. Other diseases with similar features include retinoblastoma, isolated congenital cataract, retinopathy of prematurity and pseudo gliomas or leukocorias. Direct visualization of the remnants of the fetal hyaloid vascular system offers the best evidence of PHPV. However, diagnosis using the ophthalmoscope is sometimes impossible because of opaque tissues. In this circumstance an indirect visualization by ultrasound, computed tomography or magnetic resonance imaging may be useful. These imaging methods provide valuable information for the differentiation from other diseases, particularly retinoblastoma. The authors present a review of the literature and an iconographic study of the imaging findings in patients with PHPV. (author)

  4. Persistent hyperplastic primary vitreous – The martini glass sign

    African Journals Online (AJOL)

    2014-06-20

    /radiographics.14.5.7991814. 2. Küker W, Ramaekers V. Persistent hyperplastic primary vitreous: MRI. Neuroradiology. 1999;41(7):520–522. PMID: 10450848. http:// · dx.doi.org/10.1007/s002340050796. 3. Sun MH, Kao LY, ...

  5. Persistent hyperplastic primary vitreous: congenital malformation of the eye.

    Science.gov (United States)

    Shastry, Barkur S

    2009-12-01

    Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.

  6. Computed tomography in the evaluation of patients with persistent hyperplastic primary vitreous (PHPV)

    International Nuclear Information System (INIS)

    Mafee, M.F.; Goldberg, M.F.; Valvassori, G.E.; Capek, V.

    1982-01-01

    The computed tomographic (CT) findings in 5 patients with proven persistent hyperplastic primary vitreous (PHPV) are described. PHPV arises when the embryonic hyaloid vascular system fails to regress normally. Clinically, this condition usually manifests an unilateral or bilateral leukokoria and is one of the more important and frequent conditions mimicking retinoblastoma. The spectrum of CT findings include: (a) soft-tissue replacement (infiltration) of the vitreous body; (b) retrolental soft tissue along the Cloquet canal; (c) absence of abnormal calcification within the orbit; (d) microphthalmus; (e) retrohyaloid layered blood; and (f) hypervascularity in the vitreous humor

  7. Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs.

    Science.gov (United States)

    Grahn, Bruce H; Storey, Eric S; McMillan, Catherine

    2004-01-01

    The objectives of this study were to define the clinical syndrome of retinal dysplasia and persistent primary vitreous in Miniature Schnauzer dogs and determine the etiology. We examined 106 Miniature Schnauzers using a biomicroscope and indirect ophthalmoscope. The anterior and posterior segments of affected dogs were photographed. Four enucleated eyes were examined using routine light microscopy and scanning electron microscopy. A pedigree was constructed and related dogs were test-bred to define the mode of inheritance of this syndrome. Congenital retinal dysplasia was confirmed in 24 of 106 related Miniature Schnauzer dogs. Physical and postmortem examinations revealed that congenital abnormalities were limited to the eyes. Biomicroscopic, indirect ophthalmoscopic, and neuro-ophthalmic examinations confirmed that some of these dogs were blind secondary to bilateral retinal dysplasia and detachment (nonattachment) (n = 13), and the remainder had generalized retinal dysplasia (n = 11). Fifteen of these dogs were also diagnosed with unilateral (n = 9) or bilateral (n = 6) persistent hyperplastic primary vitreous. Nutritional, infectious, or toxic etiologies were not evident on physical, postmortem, light microscopic, or transmitting and scanning electron microscopic examination of four affected Miniature Schnauzers. We examined the pedigree and determined that an autosomal recessive mode of inheritance was most likely. Three test-bred litters including those from affected parents, carrier and affected parents, and carrier parents confirmed this mode of inheritance. This study confirms that retinal dysplasia and persistent hyperplastic primary vitreous is a congenital abnormality that is inherited as an autosomal recessive condition in Miniature Schnauzers.

  8. Persistent hyperplastic primary vitreous: imaging evaluation; Persistencia hiperplastica do vitreo primitivo: avaliacao por metodos de imagem

    Energy Technology Data Exchange (ETDEWEB)

    Jacob, Beatriz Mahmud; Teixeira, Kim-Ir-Sen Santos; Figueiredo, Sizenildo da Silva; Nobrega, Bruno Barcelos da [Universidade Federal de Goias, Goiania (Brazil). Hospital das Clinicas. Dept. de Diagnostico por Imagem]. E-mail: biamjacob@hotmail.com

    2003-06-01

    Persistent hyperplastic primary vitreous (PHPV) is a congenital developmental anomaly of the eye that primarily affects premature infants. PHPV results from failure of regression of the embryogenic primary vitreous and hyaloid vasculature, and proliferation of connective tissue. Three types of PHPV may be found: anterior, posterior and a combination of anterior and posterior. The clinical findings include leukocoria (white pupillary reflex) and microphthalmic eye. This anomaly is usually unilateral and unassociated with other systemic findings. The differential diagnosis between PHPV and other ocular diseases may be difficult due to similar features such as leukocoria, detached retina, retinal folds and cataract. Other diseases with similar features include retinoblastoma, isolated congenital cataract, retinopathy of prematurity and pseudo gliomas or leukocorias. Direct visualization of the remnants of the fetal hyaloid vascular system offers the best evidence of PHPV. However, diagnosis using the ophthalmoscope is sometimes impossible because of opaque tissues. In this circumstance an indirect visualization by ultrasound, computed tomography or magnetic resonance imaging may be useful. These imaging methods provide valuable information for the differentiation from other diseases, particularly retinoblastoma. The authors present a review of the literature and an iconographic study of the imaging findings in patients with PHPV. (author)

  9. Genetics Home Reference: microphthalmia

    Science.gov (United States)

    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...

  10. Facts about Anophthalmia and Microphthalmia

    Science.gov (United States)

    ... Facts About Anophthalmia and Microphthalmia Listen Facts About Anophthalmia and Microphthalmia This information was developed by the ... is the best person to answer specific questions. Anophthalmia and Microphthalmia Defined What are anophthalmia and microphthalmia? ...

  11. Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous.

    Science.gov (United States)

    Erlacher-Reid, Claire; Colitz, Carmen M H; Abrams, Ken; Smith, Ainsley; Tuttle, Allison D

    2011-06-01

    A male yearling harp seal (Phoca groenlandica) stranded and was brought to Mystic Aquarium & Institute for Exploration's Seal Rescue and Rehabilitation Center. The seal presented with a bilateral pendular vertical nystagmus, negative menace response, and a positive palpebral response. Ophthalmological examination by slit lamp biomicroscopy revealed perilimbal corneal edema, excessive iridal surface structures, pupils that appeared to be shaped improperly (dyscoria), and suspected cataracts. Attempts to dilate the pupils with both dark-lighted conditions and repeated dosages of 10% phenylephrine and 1% atropine ophthalmic solution in each eye (OU) were unsuccessful. Ocular ultrasonography findings suggested bilateral cataracts with flattened anterior-posterior (A-P) diameter and possible persistent hyperplastic primary vitreous. It is possible that these structural congenital abnormalities could produce further ocular complications for this seal including uveitis, secondary glaucoma, retinal detachment, and/or vitreal hemorrhage in the future. This case demonstrates the importance of a thorough ophthalmological examination in stranded wild animals, especially if their symptoms appear neurological.

  12. Anophthalmia and microphthalmia.

    Science.gov (United States)

    Verma, Amit S; Fitzpatrick, David R

    2007-11-26

    Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. Anophthalmia/microphthalmia have complex aetiology with chromosomal, monogenic and environmental causes identified. Chromosomal duplications, deletions and translocations are implicated. Of monogenic causes only SOX2 has been identified as a major causative gene. Other linked genes include PAX6, OTX2, CHX10 and RAX. SOX2 and PAX6 mutations may act through causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients. OTX2, CHX10 and RAX have retinal expression and may result in anophthalmia/microphthalmia through failure of retinal differentiation. Environmental factors also play a contributory role. The strongest evidence appears to be with gestational-acquired infections, but may also include maternal vitamin A deficiency, exposure to X-rays, solvent misuse and thalidomide exposure. Diagnosis can be made pre- and post-natally using a combination of clinical features, imaging (ultrasonography and CT/MR scanning) and genetic analysis. Genetic counselling can be challenging due to the extensive range of genes responsible and wide variation in phenotypic expression. Appropriate counselling is indicated if the mode of inheritance can be identified. Differential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye. Patients are often managed within multi-disciplinary teams consisting of ophthalmologists, paediatricians and/or clinical geneticists

  13. Anophthalmia and microphthalmia

    Directory of Open Access Journals (Sweden)

    Verma Amit S

    2007-11-01

    Full Text Available Abstract Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. Anophthalmia/microphthalmia have complex aetiology with chromosomal, monogenic and environmental causes identified. Chromosomal duplications, deletions and translocations are implicated. Of monogenic causes only SOX2 has been identified as a major causative gene. Other linked genes include PAX6, OTX2, CHX10 and RAX. SOX2 and PAX6 mutations may act through causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients. OTX2, CHX10 and RAX have retinal expression and may result in anophthalmia/microphthalmia through failure of retinal differentiation. Environmental factors also play a contributory role. The strongest evidence appears to be with gestational-acquired infections, but may also include maternal vitamin A deficiency, exposure to X-rays, solvent misuse and thalidomide exposure. Diagnosis can be made pre- and post-natally using a combination of clinical features, imaging (ultrasonography and CT/MR scanning and genetic analysis. Genetic counselling can be challenging due to the extensive range of genes responsible and wide variation in phenotypic expression. Appropriate counselling is indicated if the mode of inheritance can be identified. Differential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye. Patients are often managed within multi-disciplinary teams consisting of ophthalmologists, paediatricians

  14. Genetics Home Reference: Lenz microphthalmia syndrome

    Science.gov (United States)

    ... eyeballs that are abnormally small ( microphthalmia ) or absent (anophthalmia), leading to vision loss or blindness. Other eye ... Lenz dysplasia Lenz syndrome MAA MCOPS1 microphthalmia or anophthalmos with associated anomalies microphthalmia, syndromic 1 Related Information ...

  15. [SOX2 defect and anophthalmia and microphthalmia].

    Science.gov (United States)

    Ye, Fu-xiang; Fan, Xian-qun

    2012-11-01

    As a severe congenital developmental disorder, anophthalmia and microphthalmia are usually accompanied with vision impairment and hypoevolutism of the orbit in the affected side. Many genes are involved in anophthalmia and microphthalmia, in which, SOX2 is an important one. The defect of SOX2 causes multiple system disorders, including anophthalmia and microphthalmia. We describe the relationship between the SOX2 defect and anophthalmia/microphthalmia, in order to offer some proposals for the differential diagnosis, treatment and research of anophthalmia and microphthalmia.

  16. Genetics Home Reference: Bosma arhinia microphthalmia syndrome

    Science.gov (United States)

    ... the eyeballs are abnormally small ( microphthalmia ) or absent (anophthalmia), which causes severe vision impairment or blindness. Additional ... The National Craniofacial Association Hormone Health Network Microphthalmia, Anophthalmia and Coloboma Support (UK) National Organization for Rare ...

  17. Prophylactic colectomy for hyperplastic polyposis.

    LENUS (Irish Health Repository)

    Doran, D

    2011-03-01

    Hyperplastic polyposis (HP) is important to recognise as it increases the risk of adenomata which may develop dysplastic change or frank adenocarcinoma. We present the case of a 58-year-old woman with HP.

  18. Genetics Home Reference: microphthalmia with linear skin defects syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Eye Institute: Anophthalmia and Microphthalmia Educational Resources (2 links) Disease InfoSearch: ... Foundation for the Blind Foundation Fighting Blindness Microphthalmia, Anophthalmia and Coloboma Support GeneReviews (1 link) Microphthalmia with ...

  19. The genetics of anophthalmia and microphthalmia.

    Science.gov (United States)

    Bardakjian, Tanya M; Schneider, Adele

    2011-09-01

    To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia. The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition, the complex interplay of these genes during critical embryonic development will be addressed. The recent identification of many eye development genes has changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals. Syndrome identification and the availability of genetic testing underscores the desirability of evaluation by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appropriate management, long-term guidance, and genetic counseling.

  20. Focal skin defect, limb anomalies and microphthalmia.

    NARCIS (Netherlands)

    Jackson, K.E.; Andersson, H.C.

    2004-01-01

    We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and

  1. Inappropriate colonoscopic surveillance of hyperplastic polyps.

    LENUS (Irish Health Repository)

    Keane, R A

    2011-11-15

    Colonoscopic surveillance of hyperplastic polyps alone is controversial and may be inappropriate. The colonoscopy surveillance register at a university teaching hospital was audited to determine the extent of such hyperplastic polyp surveillance. The surveillance endoscopy records were reviewed, those patients with hyperplastic polyps were identified, their clinical records were examined and contact was made with each patient. Of the 483 patients undergoing surveillance for colonic polyps 113 (23%) had hyperplastic polyps alone on last colonoscopy. 104 patients remained after exclusion of those under appropriate surveillance. 87 of the 104 patients (84%) were successfully contacted. 37 patients (8%) were under appropriate colonoscopic surveillance for a significant family history of colorectal carcinoma. 50 (10%) patients with hyperplastic polyps alone and no other clinical indication for colonoscopic surveillance were booked for follow up colonoscopy. This represents not only a budgetary but more importantly a clinical opportunity cost the removal of which could liberate valuable colonoscopy time for more appropriate indications.

  2. Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation

    Directory of Open Access Journals (Sweden)

    Llorente-González S

    2011-12-01

    Full Text Available Sara Llorente-González1, J Peralta-Calvo2, JM Abelairas-Gómez21Ophthalmology Service of Hospital de Torrejón, Madrid, Spain; 2Ophthalmology Service of Hospital Universitario La Paz, Madrid, SpainObjective: To describe the prevalence of congenital anophthalmia and microphthalmia in Hospital Universitario La Paz, and to identify associated risk factors and evaluate cosmetic results in treated and nontreated patients.Methods: A retrospective, descriptive, cross-sectional study of patients treated with orbital expanding techniques (cases and nontreated patients (controls was carried out as a comparative case series study. A total of 36 patients with unilateral or bilateral anophthalmia or microphthalmia as main diagnosis were included; 52 epidemiological and management variables for each patient were analyzed. The study evaluated orbital growth and facial symmetry.Results: The overall cosmetic result in the study’s group of patients was satisfactory: 66.7% showed good or very good orbital growth, and 75% showed good or very good facial symmetry. Controls had better cosmetic outcome but showed more cataracts (P = 0.05, inferior colobomas (P = 0.026, and family history (P = 0.056 than the cases. Controls also showed significantly better orbital growth (P = 0.042 and facial symmetry (P = 0.014 than the cases.Conclusion: This study suggests that the mere presence of a globe (controls still provides better orbitofacial development than the artificial stimulation (cases currently available for patients with congenital anophthalmia and microphthalmia, who receive internal and external orbital rehabilitation.Keywords: cosmetic outcome, orbital rehabilitation, ocular malformation, congenital cataract, persistent fetal vasculature

  3. A Rare Complication of Hyperplastic Gastric Polyp

    Directory of Open Access Journals (Sweden)

    Suresh Kumar Nayudu

    2013-01-01

    Full Text Available Hyperplastic gastric polyps are incidentally diagnosed during upper gastrointestinal endoscopy. They are known to cause gastric outlet obstruction and chronic blood loss leading to iron deficiency anemia. However, hyperplastic gastric polyp presenting as acute severe upper gastrointestinal bleeding is very rare. To the best of our knowledge, there have been two cases of hyperplastic gastric polyps presenting as acute gastrointestinal bleeding in the medical literature. We present a case of a 56-year-old African American woman who was admitted to our hospital with symptomatic anemia and sepsis. The patient developed acute upper gastrointestinal bleeding during her hospital stay. She underwent emergent endoscopy, but bleeding could not be controlled. She underwent emergent laparotomy and wedge resection to control the bleeding. Biopsy of surgical specimen was reported as hyperplastic gastric polyp. We recommend that physicians should be aware of this rare serious complication of hyperplastic gastric polyps as endoscopic polypectomy has diagnostic and therapeutic benefits in preventing future complications including bleeding.

  4. Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001.

    Science.gov (United States)

    Forrester, Mathias B; Merz, Ruth D

    2006-03-01

    Population-based epidemiologic data on anophthalmia and microphthalmia in the United States are limited and have come mainly from only a few states. The intent of this study was to report on the epidemiology of these eye defects. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with anophthalmia and microphthalmia who were delivered during 1986-2001. Anophthalmia and microphthalmia rates per 10,000 births were determined for selected factors, and comparisons were made by calculating the rate ratios and 95% confidence intervals (CIs). Ninety-six cases of anophthalmia and microphthalmia were identified, with a rate of 3.21 per 10,000 live births. The eye defects were isolated in 5 cases (5.2%), and 24 cases (25.0%) had confirmed chromosomal abnormalities. The risk of anophthalmia and microphthalmia varied over time and was significantly higher for live-born infants with low birth weights and gestational ages. The anophthalmia and microphthalmia rates also varied by maternal race/ethnicity, sex, and plurality, although these differences were not statistically significant. Anophthalmia and microphthalmia frequently occurred with other birth defects, and the rate was consistent with that found in the literature. The risk of defects differed significantly with time period, birth weight, and gestational age. The impact of many factors on anophthalmia and microphthalmia in Hawaii was frequently consistent with that reported elsewhere. Copyright 2006 Wiley-Liss, Inc.

  5. Diffuse benign gastric inflammatory hyperplastic polyps presenting ...

    African Journals Online (AJOL)

    Benign gastric inflammatory hyperplasic polyps are benign lesions that rarely occur in young age. We report a case of diffuse benign gastric inflammatory hyperplastic polyps in a 19 year old boy who presented with cough, nausea, and hematamesis. In the presented case symptoms such as nausea and vomiting are non ...

  6. Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

    Science.gov (United States)

    Patel, N; Khan, A O; Alsahli, S; Abdel-Salam, G; Nowilaty, S R; Mansour, A M; Nabil, A; Al-Owain, M; Sogati, S; Salih, M A; Kamal, A M; Alsharif, H; Alsaif, H S; Alzahrani, S S; Abdulwahab, F; Ibrahim, N; Hashem, M; Faquih, T; Shah, Z A; Abouelhoda, M; Monies, D; Dasouki, M; Shaheen, R; Wakil, S M; Aldahmesh, M A; Alkuraya, F S

    2018-06-01

    Microphthalmia is a developmental eye defect that is highly variable in severity and in its potential for systemic association. Despite the discovery of many disease genes in microphthalmia, at least 50% of patients remain undiagnosed genetically. Here, we describe a cohort of 147 patients (93 families) from our highly consanguineous population with various forms of microphthalmia (including the distinct entity of posterior microphthalmos) that were investigated using a next-generation sequencing multi-gene panel (i-panel) as well as whole exome sequencing and molecular karyotyping. A potentially causal mutation was identified in the majority of the cohort with microphthalmia (61%) and posterior microphthalmos (82%). The identified mutations (55 point mutations, 15 of which are novel) spanned 24 known disease genes, some of which have not or only very rarely been linked to microphthalmia (PAX6, SLC18A2, DSC3 and CNKSR1). Our study has also identified interesting candidate variants in 2 genes that have not been linked to human diseases (MYO10 and ZNF219), which we present here as novel candidates for microphthalmia. In addition to revealing novel phenotypic aspects of microphthalmia, this study expands its allelic and locus heterogeneity and highlights the need for expanded testing of patients with this condition. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Nasopharyngeal irradiation treatment of hyperplastic adenoids

    International Nuclear Information System (INIS)

    Pratt, L.W.

    1981-01-01

    Radiotherapy treatment in childhood is an important cause of thyroid cancer. In the 1930 to 1950 era, radium irradiation of the nasopharynx was used to control hyperplastic adenoids. Because of the technical characteristics of this applicator, sufficient radiation was not applied to the thyroid by this technique to stimulate the development of thyroid malignancies. No malignancies have been reported thus far as a result of this treatment

  8. Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

    1983-06-01

    Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

  9. Primitive neuroectodermal tumor of the orbit in a 5-year-old girl with microphthalmia

    DEFF Research Database (Denmark)

    Alyahya, Ghassan Ayish Jabur; Heegaard, Steffen; Fledelius, Hans C.

    2000-01-01

    ophthalmology, primitive neuroectodermal tumor (PNET), Ewing's sarcoma, small round-cell tumors, retinoblastoma, medulloepithelioma, microphthalmia, orbitotomy......ophthalmology, primitive neuroectodermal tumor (PNET), Ewing's sarcoma, small round-cell tumors, retinoblastoma, medulloepithelioma, microphthalmia, orbitotomy...

  10. Associated malformations among infants with anophthalmia and microphthalmia.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2012-03-01

    Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

  11. The epidemiology of anophthalmia and microphthalmia in Sweden.

    Science.gov (United States)

    Källén, Bengt; Tornqvist, Kristina

    2005-01-01

    Infants with a clinical diagnosis of anophthalmia or microphthalmia were identified from four health registers in Sweden, covering different parts of the period 1965-2001. During the observation period, the rate of anophthalmia decreased from the early 1970s from 0.4 to 0.2 per 10,000 births. The registered rate of microphthalmia increased markedly during the observation period to reach a maximum in 1987 of about 1.5 per 10,000. About 10% of the 432 identified children had a chromosome anomaly. There was no geographical variation in prevalence and infants born in urban or rural districts had, if anything, a lower risk than infants born in cities (0.93 and 1.13 per 10,000, respectively). Non-eye malformations were more common at anophthalmia (63%) than at microphthalmia (30%). Sex ratio was normal and no statistically significant variation between sub-groups (anophthalmia, microphthalmia, isolated, associated with non-eye malformations) could be demonstrated. There was a marked risk increase with maternal age but no certain parity effect, no effect of maternal education, but a possible association with subfertility. Maternal smoking in early pregnancy seemed to increase the risk for anophthalmia or microphthalmia in the absence of a coloboma.

  12. Unilateral microphthalmia or anophthalmia in eight pythons (Pythonidae)

    DEFF Research Database (Denmark)

    Da Silva, Mari-Ann Otkjær; Berthelsen, MF; Wang, T

    2015-01-01

    OBJECTIVE: To provide morphological descriptions of microphthalmia or anophthalmia in eight pythons using microcomputerized tomography (μCT), magnetic resonance imaging (MRI), and histopathology. ANIMALS STUDIED: Seven Burmese pythons (Python bivittatus) and one ball python (P. regius) with clini......OBJECTIVE: To provide morphological descriptions of microphthalmia or anophthalmia in eight pythons using microcomputerized tomography (μCT), magnetic resonance imaging (MRI), and histopathology. ANIMALS STUDIED: Seven Burmese pythons (Python bivittatus) and one ball python (P. regius...... macroscopic anomalies. CONCLUSIONS: Eight pythons with unilateral left-sided microphthalmia or anophthalmia had one normal eye and a left orbit with malformed or incompletely developed ocular structures along with remnants of fetal structures. These cases lend further information to a condition that is often...

  13. Proton MR spectroscopy of hyperplastic hematopoietic marrow in aplastic anemia

    Energy Technology Data Exchange (ETDEWEB)

    Amano, Yasuo; Kumazaki, Tatsuo [Nippon Medical School, Tokyo (Japan); Arai, Nobuyuki

    1997-04-01

    The purpose of this study was to compare the findings of magnetic resonance (MR) spectroscopy of hyperplastic hematopoietic marrow with those of normal bone marrow. Twenty-four samples of normal marrow from eight control subjects and 19 samples of hyperplastic marrow in aplastic anemia were examined with a 1.5 T MR unit. The former showed low intensity on opposed-phase T1-weighted images, while the latter showed high intensity on both fast STIR and opposed-phase T1-weighted images. MR spectroscopy quantitatively confirmed that the water; fat ratio was increased and the transverse relaxation time of water was changed in hyperplastic bone marrow, compared with normal bone marrow. In summary, MR imaging is able to detect hematopoietic regions among a wide range of bone marrow of aplastic anemia, while MR spectroscopy allowed us to quantitatively analyze the cell population of hyperplastic hematopoietic marrow in aplastic anemia. (author)

  14. Hyperplastic callus formation in osteogenesis imperfecta. A case report

    International Nuclear Information System (INIS)

    Burchardt, A.J.; Wagner, A.A.; Basse, P.

    1994-01-01

    We report a case of bilateral hyperplastic callus formation as a complication of fracture in a patient with osteogenesis imperfecta. The clinical and radiographic findings and the differential diagnosis are discussed. (orig.)

  15. Hyperplastic callus formation in osteogenesis imperfecta. A case report

    Energy Technology Data Exchange (ETDEWEB)

    Burchardt, A.J. (Depts. of Radiology and Pediatric Orthopedic Surgery, Rigshospitalet, Copenhagen Univ. (Denmark)); Wagner, A.A. (Depts. of Radiology and Pediatric Orthopedic Surgery, Rigshospitalet, Copenhagen Univ. (Denmark)); Basse, P. (Depts. of Radiology and Pediatric Orthopedic Surgery, Rigshospitalet, Copenhagen Univ. (Denmark))

    1994-09-01

    We report a case of bilateral hyperplastic callus formation as a complication of fracture in a patient with osteogenesis imperfecta. The clinical and radiographic findings and the differential diagnosis are discussed. (orig.).

  16. Proton MR spectroscopy of hyperplastic hematopoietic marrow in aplastic anemia

    International Nuclear Information System (INIS)

    Amano, Yasuo; Kumazaki, Tatsuo; Arai, Nobuyuki.

    1997-01-01

    The purpose of this study was to compare the findings of magnetic resonance (MR) spectroscopy of hyperplastic hematopoietic marrow with those of normal bone marrow. Twenty-four samples of normal marrow from eight control subjects and 19 samples of hyperplastic marrow in aplastic anemia were examined with a 1.5 T MR unit. The former showed low intensity on opposed-phase T1-weighted images, while the latter showed high intensity on both fast STIR and opposed-phase T1-weighted images. MR spectroscopy quantitatively confirmed that the water; fat ratio was increased and the transverse relaxation time of water was changed in hyperplastic bone marrow, compared with normal bone marrow. In summary, MR imaging is able to detect hematopoietic regions among a wide range of bone marrow of aplastic anemia, while MR spectroscopy allowed us to quantitatively analyze the cell population of hyperplastic hematopoietic marrow in aplastic anemia. (author)

  17. Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

    DEFF Research Database (Denmark)

    Roos, Laura; Jensen, H.; Grønskov, Karen

    2016-01-01

    Purpose: This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and coloboma among liveborn infants in Denmark, and to estimate the rate of chromosomal abnormalities in this group of patients. Methods: A cohort of patients born in 1995...

  18. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

    Science.gov (United States)

    McVeigh, Terri P; Banka, Siddharth; Reardon, William

    2015-10-01

    Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

  19. A practical guide to the management of anophthalmia and microphthalmia.

    Science.gov (United States)

    Ragge, N K; Subak-Sharpe, I D; Collin, J R O

    2007-10-01

    Congenital anophthalmia and microphthalmia are rare developmental defects of the globe. They often arise in conjunction with other ocular defects such as coloboma and orbital cyst. They may also be part of more generalised syndromes, such as CHARGE syndrome. Anophthalmia, microphthalmia, and coloboma are likely to be caused by disturbances of the morphogenetic pathway that controls eye development, either as a result of primary genetic defect, or external gestational factors, including infection or drugs that can influence the smooth processes of morphogenesis. The ophthalmologist is often the primary carer for children with anophthalmia and microphthalmia, and as such can coordinate the multidisciplinary input needed to offer optimal care for these individuals, including vision and family support services. They are able to assess the vision and maximise the visual potential of the child and they can also ensure that the cosmetic and social impact of anophthalmia or microphthalmia is minimised by starting socket expansion or referring to a specialist oculoplastics and prosthetics unit. A coordinated approach with paediatrics is necessary to manage any associated conditions. Genetic diagnosis and investigations can greatly assist in providing a diagnosis and informed genetic counselling.

  20. Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings

    International Nuclear Information System (INIS)

    Rieker, O.; Kreitner, K.F.; Karbowski, A.

    1998-01-01

    Hyperplastic callus formation is a noteworthy condition in patients with osteogenesis imperfecta because it often mimicks osteosarcoma on radiography. The findings of CT and MRI in hyperplastic callus formation have not been reported. In the presented case, MRI demonstrated contrast enhancement and edema of the surrounding soft tisssue, consistent with benign as well as malignant disease. Computed tomography showed a calcified rim of the lesion which may be a useful feature to rule out osteosarcoma in this condition. (orig.)

  1. Epidemiology of goblet cell and microvesicular hyperplastic polyps.

    Science.gov (United States)

    Qazi, Taha M; O'Brien, Michael J; Farraye, Francis A; Gould, Ryan W; Chen, Clara A; Schroy, Paul C

    2014-12-01

    Serrated polyps compromise both typical hyperplastic polyps as well as sessile serrated adenomas and dysplastic serrated polyps. Hyperplastic polyps exhibit two histological patterns: microvesicular hyperplastic polyps (MVHPs) and goblet cell hyperplastic polyps (GCHPs). MVHPs and GCHPs differ in their molecular signature. MVHPs have been frequently found to have the BRAF(V600E) mutation as well as aberrant methylation. In contrast, GCHPs have been associated with the KRAS mutation (KRAS-mut), which are infrequently seen in dysplastic serrated sessile adenomas. The particular risk factors that are associated with development of the types of hyperplastic polyps have not been previously studied. The purpose of this study is to characterize the associations between particular risk factors and the development of goblet cell or microvesicular hyperplastic polyps. We conducted a cross-sectional analysis of 3,543 asymptomatic, mostly average risk patients 50 and 79 years of age undergoing open-access screening colonoscopy between March 2005 and January 2012. Each patient was given a survey regarding 25 reputed risk factors for colorectal neoplasia and the responses were correlated with findings at colonoscopy. Associations between putative risk factors for colorectal neoplasia and MVHPs and GSHPs were examined using multiple logistic regression. MVHPS and GCHPs were identified in 5.3% and 8.7% of patients, respectively. The results of the statistical analysis indicate that a history of smoking greater than 20 years is associated with an increased risk of MVHPs (P30 kg/m(2) was also associated with the presence of MVHP at colonoscopy (PGCHP at colonoscopy in blacks. The study suggests that the development of the distinct histological types of hyperplastic polyps are associated with distinct modifiable and non-modifiable lifestyle factors.

  2. Markers of potential malignancy in chronic hyperplastic candidiasis.

    Science.gov (United States)

    Darling, Mark R; McCord, Christina; Jackson-Boeters, Linda; Copete, Maria

    2012-08-01

    To examine the presence of markers associated with malignancy, including p53, p21 cyclin-dependent kinase inhibitor 1A, murine double minutes-2, and others, in chronic hyperplastic candidiasis. Immunohistochemical methods were used to examine the expression of p53, murine double minutes-2, p21 cyclin-dependent kinase inhibitor 1A, metallothionein, and proliferating cell nuclear antigen in 42 chronic hyperplastic candidiasis lesions and 11 non-infected control tissues. Terminal deoxynucleotidyl transferase-mediated digoxigenin-dUTP nick-end labeling was used to examine apoptosis, which was correlated with p53 expression. These markers were measured in lesions of chronic hyperplastic candidiasis that did not show any epithelial dysplasia or histological signs of malignancy. p53 scores were higher in chronic hyperplastic candidiasis than in controls (P = 0.0046). Murine double-minutes 2 levels were not elevated. p21 cyclin-dependent kinase inhibitor 1A was increased in parabasal (P candidiasis lesions showed a similar basal/parabasal metallothionein staining pattern to that seen in normal squamous epithelium. Proliferating cell nuclear antigen was increased (P = 0.0007), as was apoptosis (P = 0.0033). Increased p53 in oral chronic hyperplastic candidiasis suggests an increased potential for malignant change in the epithelium, above that of normal tissues. Further functional investigation is required, as well as clinical follow-up studies. © 2012 Blackwell Publishing Asia Pty Ltd.

  3. Radiation therapy of hyperplastic heterotopic ossifications in osteogenesis imperfecta

    International Nuclear Information System (INIS)

    Micke, O.; Wagner, W.; Poetter, R.; Prott, F.J.; Karbowski, A.

    1994-01-01

    Purpose: Osteogenesis imperfecta is a rare hereditary disease of connective tissue with a genetic defect in collagen synthesis. In osteogenesis imperfecta hyperplastic heterotopic ossification can be induced by hyperplastic callus formation caused by trauma or operation. Heterotopic ossifications can be found in numerous benign diseases. The successful use of low dose radiotherapy in the treatment of heterotopic ossifications in well-known from the literature. Patients and Methods: We treated two children (a 13-year old girl and a ten-year old boy) with heterotopic ossifications of the lower extremities in osteogenesis imperfecta type IV (Lobstein) with a low dose irradiation (10x1 Gy, respectively 6x1 Gy) under megavoltage conditions. Results: After radiotherapy the children were painfree and the hyperplastic callus was considerably reduced. The previously immobilized patients could partly be mobilized. Thereby it could be contributed to the rehabilitation of the patients. New hyperplastic callus formation was not observed in the irradiated areas so far. Conclusion: Analogous to the successful radiation of heterotopic ossifications in other benign diseases radiation therapy seems to be a successful treatment of hyperplastic callus formation in osteogenesis imperfecta. Despite the late risks of radiotherapy radiation treatment of benign diseases in children might be indicated. (orig.) [de

  4. Microphthalmia and anophthalmia in Chuuk State, Federated States of Micronesia.

    Science.gov (United States)

    Yomai, A A; Pavlin, B I

    2010-04-01

    Microphthalmia ('small eye') and anophthalmia ('no eye') are rare congenital defects of eye development. Previous studies utilizing a variety of methodologies have estimated their combined incidence at anywhere from 4 to 30 cases per 100,000 live births. In Chuuk, Federated States of Micronesia, there have been 42 cases detected since 1988, yielding an estimated incidence of 140 cases per 100,000. A number of putative genetic and environmental causes have previously been associated with microphthalmia and anophthalmia, including vitamin A deficiency. To date, it is unclear which of these factors may play a role in the alarmingly high rates observed in Chuuk. The Chuuk Division of Public Health has proposed a study to explore these potential causes, which will hopefully shed light on the prevention of these rare but debilitating conditions.

  5. Spectral Domain Optical Coherence Tomography Findings in Posterior Microphthalmia

    Directory of Open Access Journals (Sweden)

    Emine Tınkır Kayıtmazbatır

    2014-05-01

    Full Text Available The retinal spectral domain optical coherence tomography (SD-OCT findings of two posterior microphthalmia cases are presented in this case report. For this purpose, the findings of two siblings aged five and seven years who presented to our clinic with the complain of far-sightedness and high hypermetropia were evaluated. Both cases diagnosed to have posterior microphthalmia demonstrated normal biomicroscopic anterior segment examination and gonioscopy findings and the axial lengths were measured to be shorter than 17mm. The SD-OCT analysis of papillomacular folds detected in fundus examination revealed contribution of only neurosensorial retina. Beneath the retinal fold, we observed bilateral cysts in the intraretinal area in one of the cases and a triangle-shaped hyporeflective space with an apex corresponding to that of the retinal fold in the subretinal area in both cases. SD-OCT is an adjunctive imaging tool for diagnosis and follow-up of degenerative changes in posterior microphthalmia. These changes may be also important for visual prognosis. (Turk J Ophthalmol 2014; 44: 240-2

  6. Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Rieker, O.; Kreitner, K.F. [Klinik fuer Radiologie, Johannes-Gutenberg-Univ. Mainz (Germany); Karbowski, A. [Orthopaedische Abtl., Krankenhaus der Augustinerinnen, Koeln (Germany)

    1998-09-01

    Hyperplastic callus formation is a noteworthy condition in patients with osteogenesis imperfecta because it often mimicks osteosarcoma on radiography. The findings of CT and MRI in hyperplastic callus formation have not been reported. In the presented case, MRI demonstrated contrast enhancement and edema of the surrounding soft tisssue, consistent with benign as well as malignant disease. Computed tomography showed a calcified rim of the lesion which may be a useful feature to rule out osteosarcoma in this condition. (orig.) With 2 figs., 18 refs.

  7. Prosthetic management of congenital anophthalmia-microphthalmia patient

    Directory of Open Access Journals (Sweden)

    Himanshi Aggarwal

    2015-01-01

    Full Text Available Congenital anophthalmia and microphthalmia are rare developmental defects of the globe that cause deficient orbitofacial growth and impaired visual capability. Anophthalmia whether congenital or acquired is not just a question of cosmesis. It has many ramifications such as monocular status, loss of facial esthetics and psychological challenges for a growing child. The management of such a patient requires the coordinated involvement of a multidisciplinary team of health care professionals, including pediatrician, pediatric ophthalmologist, geneticist, genetic counselor, oculoplasty surgeon, and prosthetist. This article focuses on the rehabilitation of an adult female patient with congenital anophthalmia who was successfully treated with progressive expansion therapy with custom conformer followed by custom ocular prosthesis.

  8. [The genetic background for the eye malformations anophthalmia and microphthalmia].

    Science.gov (United States)

    Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep

    2012-03-12

    Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

  9. The genetic architecture of microphthalmia, anophthalmia and coloboma.

    Science.gov (United States)

    Williamson, Kathleen A; FitzPatrick, David R

    2014-08-01

    Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent a continuum of structural developmental eye defects. In severe bilateral cases (anophthalmia or severe microphthalmia) the genetic cause is now identifiable in approximately 80 percent of cases, with de novo heterozygous loss-of-function mutations in SOX2 or OTX2 being the most common. The genetic cause of other forms of MAC, in particular isolated coloboma, remains unknown in the majority of cases. This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1. Recently reported mutation of the SALL2 and YAP1 genes are discussed in brief. Clinical and genetic features were reviewed in a total of 283 unrelated MAC cases or families that were mutation-positive from these 20 genes. Both the relative frequency of mutations in MAC cohort screens and the level of confidence in the assignment of disease-causing status were evaluated for each gene. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  10. Unilateral microphthalmia or anophthalmia in eight pythons (Pythonidae).

    Science.gov (United States)

    Da Silva, Mari-Ann O; Bertelsen, Mads F; Wang, Tobias; Pedersen, Michael; Lauridsen, Henrik; Heegaard, Steffen

    2015-01-01

    To provide morphological descriptions of microphthalmia or anophthalmia in eight pythons using microcomputerized tomography (μCT), magnetic resonance imaging (MRI), and histopathology. Seven Burmese pythons (Python bivittatus) and one ball python (P. regius) with clinically normal right eyes and an abnormal or missing left eye. At the time of euthanasia, four of the eight snakes underwent necropsy. Hereafter, the heads of two Burmese pythons and one ball python were examined using μCT, and another Burmese python was subjected to MRI. Following these procedures, the heads of these four pythons along with the heads of an additional three Burmese pythons were prepared for histology. All eight snakes had left ocular openings seen as dermal invaginations between 0.2 and 2.0 mm in diameter. They also had varying degrees of malformations of the orbital bones and a limited presence of nervous, glandular, and muscle tissue in the posterior orbit. Two individuals had small but identifiable eyes. Furthermore, remnants of the pigmented embryonic framework of the hyaloid vessels were found in the anophthalmic snakes. Necropsies revealed no other macroscopic anomalies. Eight pythons with unilateral left-sided microphthalmia or anophthalmia had one normal eye and a left orbit with malformed or incompletely developed ocular structures along with remnants of fetal structures. These cases lend further information to a condition that is often seen in snakes, but infrequently described. © 2014 American College of Veterinary Ophthalmologists.

  11. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

    Science.gov (United States)

    Fares-Taie, Lucas; Gerber, Sylvie; Chassaing, Nicolas; Clayton-Smith, Jill; Hanein, Sylvain; Silva, Eduardo; Serey, Margaux; Serre, Valérie; Gérard, Xavier; Baumann, Clarisse; Plessis, Ghislaine; Demeer, Bénédicte; Brétillon, Lionel; Bole, Christine; Nitschke, Patrick; Munnich, Arnold; Lyonnet, Stanislas; Calvas, Patrick; Kaplan, Josseline; Ragge, Nicola; Rozet, Jean-Michel

    2013-02-07

    Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia and microphthalmia. Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies. ALDH1A3 is a key enzyme in the formation of a retinoic acid gradient along the dorso-ventral axis during early eye development. Transitory expression of mutant ALDH1A3 open reading frames showed that both missense mutations reduce the accumulation of the enzyme, potentially leading to altered retinoic acid synthesis. Although the role of retinoic acid signaling in eye development is well established, our findings provide genetic evidence of a direct link between retinoic-acid-synthesis dysfunction and early-eye-development anomalies in humans. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  12. Site of iodination in hyperplastic thyroid glands deduced from autoradiographs

    International Nuclear Information System (INIS)

    Wollman, S.H.; Ekholm, R.

    1981-01-01

    We have tried to ascertain the site of iodination in the chronically stimulated, hyperplastic thyroid gland of rats. Rats were fed propylthiouracil in a commercial rat diet for 10 days. Then the diet was changed to a low iodine diet for 5 days. To label the gland, 10 mCi of 125I-iodide was injected into the left heart ventricle. Ten seconds later the animal was perfused through the left ventricle with a fixative solution containing a goitrogen to block further iodination, and stable iodide to help extract uncombined radioiodide. Electron microscopic autoradiographs prepared from the fixed thyroids show strong labeling over the lumen of the follicle and no consistent labeling of any other site or organelle. We conclude that the site of iodination in the chronically stimulated, hyperplastic thyroid is the follicular lumen, i.e. the same as that in the normal gland

  13. Spontaneous infarction of hyperplastic breast tissue: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Eun Young; Nam, Sang Yu; Choi, Hye Young; Hong, Min Ji [Dept. of Radiology, Gil Medical Center, Gachon University School of Medicine and Science, Incheon (Korea, Republic of)

    2015-09-15

    Spontaneous breast infarction is a very rare complication of fibroadenoma of the breast. We present an interesting case of a 33-year-old woman with spontaneous infarction of hyperplastic breast tissue related to pregnancy and lactation. Mammography showed an oval, circumscribed, fat-containing mass with microcalcifications. Ultrasonography revealed an oval, circumscribed mass with echogenic dots. Color Doppler imaging revealed presence of minimal vascularity at the periphery of the mass.

  14. Unusual Presentation of Chronic Hyperplastic Pulpitis: A Case Report

    Science.gov (United States)

    Faryabi, Javad; Adhami, Shahrzad

    2008-01-01

    Chronic hyperplastic pulpitis (pulp polyps) usually occurs in molar teeth of children and young adults and is characterized by an overgrowth of granulomatous tissue into the carious cavity. Here, we report a rare type of pulp polyp in lower third molar of a 27-year-old woman that not only grow into carious cavity but also extruded in very large size that interfered with occluding of the teeth. PMID:24265640

  15. Multiple calcifying hyperplastic dental follicles: A case report

    International Nuclear Information System (INIS)

    Aydin, Ulkem; Baykul, Timucin; Yildirim, Benay; Yildirim, Derya; Bozdemir, Esin; Karaduman, Ayse

    2013-01-01

    This report describes a 31-year-old female patient with six impacted teeth. The crowns of the impacted teeth were surrounded with cyst-like lesions with a mixed internal structure and well-defined cortical borders. Microscopic examination of the specimen obtained from the follicle of the left mandibular third molar tooth revealed loose to moderately dense collagenous connective tissue with abundant calcified material and sparse epithelial islands. A diagnosis of multiple calcifying hyperplastic dental follicles was made.

  16. Multiple calcifying hyperplastic dental follicles: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Aydin, Ulkem [Dept. of Dentomaxillofacial Radiology, Baskent University Faculty of Dentistry, Ankara (Turkey); Baykul, Timucin [Dept. of Oral and Maxillofacial Surgery, Suleyman Demirel University Faculty of Dentistry, Isparta (Turkey); Yildirim, Benay [Dept. of Oral Pathology, Gazi University Faculty of Dentistry, Ankara (Turkey); Yildirim, Derya; Bozdemir, Esin [Dept. of Dentomaxillofacial Radiology, Suleyman Demirel University Faculty of Dentistry, Isparta (Turkey); Karaduman, Ayse [Atlas Dent Dental Health Center, Aydin (Turkey)

    2013-12-15

    This report describes a 31-year-old female patient with six impacted teeth. The crowns of the impacted teeth were surrounded with cyst-like lesions with a mixed internal structure and well-defined cortical borders. Microscopic examination of the specimen obtained from the follicle of the left mandibular third molar tooth revealed loose to moderately dense collagenous connective tissue with abundant calcified material and sparse epithelial islands. A diagnosis of multiple calcifying hyperplastic dental follicles was made.

  17. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

    Science.gov (United States)

    George, Aman; Zand, Dina J; Hufnagel, Robert B; Sharma, Ruchi; Sergeev, Yuri V; Legare, Janet M; Rice, Gregory M; Scott Schwoerer, Jessica A; Rius, Mariana; Tetri, Laura; Gamm, David M; Bharti, Kapil; Brooks, Brian P

    2016-12-01

    Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations. Copyright © 2016. Published by Elsevier Inc.

  18. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

    Science.gov (United States)

    Reis, Linda M; Semina, Elena V

    2015-06-01

    The human eye is a complex organ whose development requires extraordinary coordination of developmental processes. The conservation of ocular developmental steps in vertebrates suggests possible common genetic mechanisms. Genetic diseases involving the eye represent a leading cause of blindness in children and adults. During the last decades, there has been an exponential increase in genetic studies of ocular disorders. In this review, we summarize current success in identification of genes responsible for microphthalmia, anophthalmia, and coloboma (MAC) phenotypes, which are associated with early defects in embryonic eye development. Studies in animal models for the orthologous genes identified overlapping phenotypes for most factors, confirming the conservation of their function in vertebrate development. These animal models allow for further investigation of the mechanisms of MAC, integration of various identified genes into common developmental pathways and finally, provide an avenue for the development and testing of therapeutic interventions. © 2015 Wiley Periodicals, Inc.

  19. Squamous cell hyperplastic foci: precursors of cutaneous papillomas induced in SENCAR mice by a two-stage carcinogenesis regimen.

    Science.gov (United States)

    Binder, R L; Johnson, G R; Gallagher, P M; Stockman, S L; Sundberg, J P; Conti, C J

    1998-10-01

    We have conducted a series of experiments to characterize the lesions that are precursors of cutaneous papillomas in SENCAR mice initiated with 7,12-dimethylbenz(a)anthracene (DMBA) and promoted with 12-O-tetradecanoylphorbol-13-acetate (TPA). The first grossly detectable lesions at sites where papillomas subsequently developed were papules, slightly raised areas of skin ranging in diameter from 0.25 to approximately 1.5 mm. Papules were first detected in DMBA-initiated mice 21 days after the start of dosing with TPA. Of 78 DMBA/TPA-induced papules tracked during 15 weeks of TPA treatments, 68% progressed to papillomas, 9% persisted as papules, and 22% completely regressed. Histological evaluation of serial sections of 69 DMBA/TPA-induced papules revealed that they were focal hyperplastic lesions that we refer to as squamous cell hyperplastic foci (SCHF). These hyperproliferative lesions appeared to progress through two distinct stages. Stage I SCHF were characterized as regular hyperplastic foci involving the interfollicular epidermis and the outer root sheaths of 1 or more hair follicles down to the level of the sebaceous glands. Stage II SCHF were foci of irregular epithelial hyperplasia with increased fibrovascular stroma and involved from 3 to >10 hair follicles. Prominent dilated capillaries and inflammatory cell infiltrates were frequently associated with both stage I and II SCHF. Ha-ras gene codon 61 mutations were detected in 7 of 10 stage I SCHF and 13 of 14 stage II SCHF microdissected from histological sections and 7 of 7 of whole papules by mutation-specific PCR analysis. These data provide molecular evidence that SCHF are foci of initiated cells. Further study of these lesions may contribute to more fully defining the sequence of molecular and cellular changes necessary for tumorigenesis in mouse skin. SCHF may also have utility as early indicators of potential skin tumorigenicity in cancer bioassays.

  20. Antral hyperplastic polyp causing intermittent gastric outlet obstruction: Case report

    Directory of Open Access Journals (Sweden)

    Kurtkaya-Yapicier Ozlem

    2003-06-01

    Full Text Available Abstract Background Hyperplastic polyps are the most common polypoid lesions of the stomach. Rarely, they cause gastric outlet obstruction by prolapsing through the pyloric channel, when they arise in the prepyloric antrum. Case presentation A 62-year-old woman presented with intermittent nausea and vomiting of 4 months duration. Upper gastrointestinal endoscopy revealed a 30 mm prepyloric sessile polyp causing intermittent gastric outlet obstruction. Following submucosal injection of diluted adrenaline solution, the polyp was removed with a snare. Multiple biopsies were taken from the greater curvature of the antrum and the corpus. Rapid urease test for Helicobacter pylori yielded a negative result. Histopathologic examination showed a hyperplastic polyp without any evidence of malignancy. Biopsies of the antrum and the corpus revealed gastritis with neither atrophic changes nor Helicobacter pylori infection. Follow-up endoscopy after a 12-week course of proton pomp inhibitor therapy showed a complete healing without any remnant tissue at the polypectomy site. The patient has been symptom-free during 8 months of follow-up. Conclusions Symptomatic gastric polyps should be removed preferentially when they are detected at the initial diagnostic endoscopy. Polypectomy not only provides tissue to determine the exact histopathologic type of the polyp, but also achieves radical treatment.

  1. Antral hyperplastic polyp: A rare cause of gastric outlet obstruction.

    Science.gov (United States)

    Aydin, Ibrahim; Ozer, Ender; Rakici, Halil; Sehitoglu, Ibrahim; Yucel, Ahmet Fikret; Pergel, Ahmet; Sahin, Dursun Ali

    2014-01-01

    Gastric polyps are usually found incidentally during upper gastrointestinal endoscopic examinations. These polyps are generally benign, with hyperplasia being the most common. While gastric polyps are often asymptomatic, they can cause gastric outlet obstruction. A 64 years-old female patient presented to our polyclinic with a history of approximately 2 months of weakness, occasional early nausea, vomiting after meals and epigastric pain. A polypoid lesion of approximately 25mm in diameter was detected in the antral area of the stomach, which prolapsed through the pylorus into the duodenal bulbus, and subsequently caused gastric outlet obstruction, as revealed by upper gastrointestinal endoscopy of the patient. The polyp was retrieved from the pyloric canal into the stomach with the aid of a tripod, and snare polypectomy was performed. Currently, widespread use of endoscopy has led to an increase in the frequency of detecting hyperplastic polyps. While most gastric polyps are asymptomatic, they can cause iron deficiency anemia, acute pancreatitis and more commonly, gastric outlet obstruction because of their antral location. Although there are no precise principles in the treatment of asymptomatic polyps, polyps >5mm should be removed due to the possibility of malignant transformation. According to the medical evidence, polypectomy is required for gastric hyperplastic polyps because of the risks of complication and malignancy. These cases can be successfully treated endoscopically. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

    NARCIS (Netherlands)

    Boparai, K. S.; Reitsma, J. B.; Lemmens, V.; van Os, T. A. M.; Mathus-Vliegen, E. M. H.; Koornstra, J. J.; Nagengast, F. M.; van Hest, L. P.; Keller, J. J.; Dekker, E.

    2010-01-01

    Introduction Hyperplastic polyposis syndrome (HPS) is characterised by the presence of multiple colorectal hyperplastic polyps and is associated with an increased colorectal cancer (CRC) risk. For first-degree relatives of HPS patients (FDRs) this has not been adequately quantified. Reliable

  3. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome.

    NARCIS (Netherlands)

    Boparai, K.S.; Reitsma, J.B.; Lemmens, V.; Os, T.A. van; Mathus-Vliegen, E.M.H.; Koornstra, J.J.; Nagengast, F.M.; Hest, L.P. van; Keller, J.J.; Dekker, E. den

    2010-01-01

    INTRODUCTION: Hyperplastic polyposis syndrome (HPS) is characterised by the presence of multiple colorectal hyperplastic polyps and is associated with an increased colorectal cancer (CRC) risk. For first-degree relatives of HPS patients (FDRs) this has not been adequately quantified. Reliable

  4. Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome

    NARCIS (Netherlands)

    Boparai, K. S.; Lemmens, V.; van Os, T. A. M.; Mathus-Vliegen, E. M. H.; Koornstra, J. J.; Nagengast, F. M.; van Hest, L. P.; Keller, J. J.; Dekker, E.; Reitsma, J.

    Introduction Hyperplastic polyposis syndrome (HPS) is characterised by the presence of multiple colorectal hyperplastic polyps and is associated with an increased colorectal cancer (CRC) risk. For first-degree relatives of HPS patients (FDRs) this has not been adequately quantified. Reliable

  5. Invasive adenocarcinoma arising from a mixed hyperplastic/adenomatous polyp and synchronous transverse colon cancer.

    Science.gov (United States)

    Chen, Chuang-Wei; Hsiao, Koung-Hong; Yue, Chung-Tai; Wang, Chia-Chi

    2013-08-28

    An admixture of hyperplastic and adenomatous components within the same polyp is unusual. Adenocarcinoma arising from a mixed hyperplastic/adenomatous polyp (MHAP) occurs even more rarely. We report the first case of a 59-year-old male who presented with invasive adenocarcinoma originating from a MHAP at a sigmoid colon and synchronous transverse colon cancer.

  6. Invasive adenocarcinoma arising from a mixed hyperplastic/adenomatous polyp and synchronous transverse colon cancer

    OpenAIRE

    Chen, Chuang-Wei; Hsiao, Koung-Hong; Yue, Chung-Tai; Wang, Chia-Chi

    2013-01-01

    An admixture of hyperplastic and adenomatous components within the same polyp is unusual. Adenocarcinoma arising from a mixed hyperplastic/adenomatous polyp (MHAP) occurs even more rarely. We report the first case of a 59-year-old male who presented with invasive adenocarcinoma originating from a MHAP at a sigmoid colon and synchronous transverse colon cancer.

  7. A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

    Directory of Open Access Journals (Sweden)

    Ryan Chao

    Full Text Available Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one of the deleted genes, TMX3, was expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye. We re-sequenced TMX3 in 162 patients with anophthalmia or microphthalmia, and found two missense substitutions in unrelated patients: c.116G>A, predicting p.Arg39Gln, in a male with unilateral microphthalmia and retinal coloboma, and c.322G>A, predicting p.Asp108Asn, in a female with unilateral microphthalmia and severe micrognathia. We used two antisense morpholinos targeted against the zebrafish TMX3 orthologue, zgc:110025, to examine the effects of reduced gene expression in eye development. We noted that the morphant larvae resulting from both morpholinos had significantly smaller eye sizes and reduced labeling with islet-1 antibody directed against retinal ganglion cells at 2 days post fertilization. Co-injection of human wild type TMX3 mRNA rescued the small eye phenotype obtained with both morpholinos, whereas co-injection of human TMX3(p.Arg39Gln mutant mRNA, analogous to the mutation in the patient with microphthalmia and coloboma, did not rescue the small eye phenotype. Our results show that haploinsufficiency for TMX3 results in a small eye phenotype and represents a novel genetic cause of microphthalmia and coloboma. Future experiments to determine if other thioredoxins are important in eye morphogenesis and to clarify the mechanism of function of TMX3 in eye development are warranted.

  8. Hyperplastic Polyps Are Innocuous Lesions in Hereditary Nonpolyposis Colorectal Cancers

    Directory of Open Access Journals (Sweden)

    D. Speake

    2011-01-01

    Full Text Available Aims. To compare methylation profiles, protein expression, and microsatellite instability (MSI of sporadic, HNPCC, and familial hyperplastic polyps (HPs. Methods. Methylation-specific PCR (MSP and pyrosequencing assessed p16, MGMT, hMLH-1, MINT 1, and MINT 31 methylation. IHC (Immunohistochemistry assessed Ki67, CK20, hMLH-1, hMSH-2, and hMSH-6 protein expression. MSI analysis was performed on those polyps with adequate DNA remaining. Results. 124 HPs were identified 78 sporadic, 21 HNPCC, 25 familial, and the HNPCC group demonstrated no significant differences in overall methylation (P=.186 Chi2. The familial group demonstrated significantly less over all methylation levels (P=.004 Chi2. Conclusions. HPs that occur in HNPCC have no more worrying features at a molecular level than those patients with HPs in a sporadic setting.

  9. [Hyperplastic changes and oral contraceptives in Anglo-Saxon countries].

    Science.gov (United States)

    Markuszewski, C

    1978-09-18

    One of the major problems being researched and studied by the World Health Organization is the incidence of harmful side effects in users of steroid contraceptives. A literature search indicates that Anglo-Saxon countries report alarming hyperplastic changes, particularly in the liver, blood clots, hyperlipidemia leading to high blood pressure, porphyria, atypical leiomyomas and cervical hyperplasia. Currently attention is being focused on the relationship between steroid contraceptives and breast cancer. Fazala and Paffenbarger in their study of 1770 women found such benign changes as fibroadenoma, mastopathia fibrosa cystica and papilloma intraductale. In women who had used oral contraceptives for 2-4 yrs, malignancies were 1.9% to 2.5% more frequent than in non-users; in 6 yrs of use, 11 times greater than in non-users. Estrogens, particularly mestranol has been recognized as being harmful to the liver. Length of usage is a definite factor. Beginning with 1960, relatively frequent occurrences of hepotoma in young women on the pill were noted. Caught at an early stage, peliosis hepatis can be reversed if the patient discontinues the use of contraceptives. In some cases, even after a long interval of 6 months to 10 yrs, the disease continued to develop. Liver cell adenoma in the U. S. occurs 1/500,00 to 1/1,000,000. After 5 to 7 yrs of using oral contraceptives, the chance of developing liver cell adenoma is 5 times greater; after 10 yrs of use, 35 times greater. Hepatomas rupture in 43.4% of cases when the patient had been on a contraceptive, while in only 22.2% in cases of non-users. The literature which the author investigated did not establish a clear proof that the hyperplastic changes discussed were due exclusively to usage of oral contraceptives.

  10. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

    Science.gov (United States)

    Pedace, Lucia; Castori, Marco; Binni, Francesco; Pingi, Alberto; Grammatico, Barbara; Scommegna, Salvatore; Majore, Silvia; Grammatico, Paola

    2009-01-01

    Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions.

  11. Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.

    Science.gov (United States)

    Roos, Laura; Jensen, Hanne; Grønskov, Karen; Holst, René; Tümer, Zeynep

    2016-10-01

    This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and coloboma among liveborn infants in Denmark, and to estimate the rate of chromosomal abnormalities in this group of patients. A cohort of patients born in 1995-2012 with diagnoses of MO/AO or coloboma was identified from the Danish National Patient Registry (DNPR), and their ocular and extra-ocular diagnoses were reviewed. In order to assess the occurrence of chromosomal abnormalities in the cohort, the data were cross-referenced with the Danish Cytogenetic Central Registry (DCCR). We identified 415 patients with MO/AO/coloboma in the DNPR. The total number of live births from 1995-2012 was 1,174,299, and the average birth prevalence of MO/AO/coloboma was 3.6/10,000 live births and of MO/AO was 1.2/10,000 live births. Extra-ocular abnormalities were observed in 32.1% of MO/AO cases and 21.7% of coloboma cases. Chromosome analysis was performed in 36.1% of the cohort, and 14.7% of cases had an abnormal karyotype. In 8.7% of the cohort, a chromosome microarray analysis was performed, and in 44.4% of cases, a possibly pathogenic copy number variation was observed. The birth prevalence of MO/AO/coloboma in Denmark has been steady at 3.6/10,000 live births during the last 17 years. The rate of syndromic cases was lower compared to other studies. A relatively high rate of pathogenic chromosomal aberrations was observed, suggesting an important role for cytogenetic analysis in this group of patients.

  12. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

    Science.gov (United States)

    Vidya, Nair Gopinathan; Rajkumar, Sankaranarayanan; Vasavada, Abhay R

    2018-06-01

    Mutation in eye developmental genes has been reported to cause anophthalmia and microphthalmia. However, in India, especially in the Western Indian population, such reports are scarce. Hence, the present study aims to investigate mutations in 15 ocular developmental genes in patients with anophthalmia and microphthalmia in the western region of India. Genomic DNA was isolated from the blood of 52 individuals affected with microphthalmia and anophthalmia, and 50 healthy normal controls. Polymerase chain reaction (PCR) was carried out for 15 genes including BMP4, CRYBA4, FOXE3, GDF6, GJA3, GJA8, MITF, OTX2, PAX6, PITX3, RAX, SIX3, SIX6, SOX2, and VSX2 using gene-specific primers spanning the exon-intron boundaries and part of a promoter region. The amplified PCR products were purified and then subjected to Sanger's bi-directional sequencing. Nucleotide variations were examined using a basic local alignment search tool (BLAST). Bi-directional sequencing identified 8 novel and 14 known variations. Out of this, the variations GJA3-c.92T>A; p.Ile31Asn, SOX2-c.542C>A; p.Pro181Gln and SOX2-c.541_542delinsGA; p.Pro181Glu were found to be deleterious by in silico analysis. The GJA3-p.Ile31Asn mutation was identified in a patient with bilateral microphthalmia, microcornea, and membranous cataract. The SOX2-p.Pro181Gln and SOX2-p.Pro181Glu mutations were identified in patients with isolated bilateral microphthalmia and microphthalmia with microcornea, respectively. A novel nondeleterious missense variation was identified in the GJA8 gene in a patient with anophthalmia. These results support the crucial role of GJA3 and SOX2 in eye development and indicate a detailed functional study to understand the molecular mechanisms underlying the disease pathology.

  13. MRI and CT features of hyperplastic callus in osteogenesis imperfecta tarda

    International Nuclear Information System (INIS)

    Dobrocky, I.; Seidl, G.; Grill, F.

    1999-01-01

    We describe the MRI and CT findings of hyperplastic callus formation simulating a tumour of pelvis in patient with osteogenesis imperfecta tarda. Possible differential diagnoses and the impact of different imaging techniques on the correct diagnosis are discussed. (orig.)

  14. Renal progenitor cells contribute to hyperplastic lesions of podocytopathies and crescentic glomerulonephritis.

    NARCIS (Netherlands)

    Smeets, B.; Angelotti, M.L.; Rizzo, P.; Dijkman, H.; Lazzeri, E.; Mooren, F.; Ballerini, L.; Parente, E.; Sagrinati, C.; Mazzinghi, B.; Ronconi, E.; Becherucci, F.; Benigni, A.; Steenbergen, E.; Lasagni, L.; Remuzzi, G.; Wetzels, J.F.M.; Romagnani, P.

    2009-01-01

    Glomerular injury can involve excessive proliferation of glomerular epithelial cells, resulting in crescent formation and obliteration of Bowman's space. The origin of these hyperplastic epithelial cells in different glomerular disorders is controversial. Renal progenitors localized to the inner

  15. Sugar residues content and distribution in atrophic and hyperplastic postmenopausal human endometrium: lectin histochemistry

    OpenAIRE

    Gheri, G.; Gheri Bryk, S.; Taddei, G.; Moncini, D.; Noci, I.

    1996-01-01

    A lectin histochemical study was performed to investigate the glycoconjugate saccharidic moieties of the human postmenopausal endometrium (14 atrophic and 15 hyperplastic). For this purpose a battery of seven horseradish peroxidase-conjugated lectins (PNA, SBA, DBA, WGA, ConA, LTA and UEA I) was used. No differences in lectin binding between atrophic and hyperplastic endometria were observed. This investigation allowed us to provide a basic picture of the oligo...

  16. Analysis of corneal topography in patients with pure microphthalmia in Eastern China.

    Science.gov (United States)

    Hu, Pei-Hong; Gao, Gui-Ping; Yu, Yao; Pei, Chong-Gang; Zhou, Qiong; Huang, Xin; Zhang, Ying; Shao, Yi

    2015-12-01

    To determine the typical corneal changes in pure microphthalmia using a corneal topography system and identify characteristics that may assist in early diagnosis. Patients with pure microphthalmia and healthy control subjects underwent corneal topography analysis (Orbscan IIZ® Corneal Topography System; Bausch and Lomb, Bridgewater, NJ, USA) to determine degree of corneal astigmatism (mean A), simulation of corneal astigmatism (sim A), mean keratometry (mean K), simulated keratometry (sim K), irregularities in the 3 - and 5-mm zone, and mean thickness of nine distinct corneal regions. Patients with pure microphthalmia (n = 12) had significantly higher mean K, sim K, mean A, sim A, 3.0 mm irregularity and 5.0 mm irregularity, and exhibited significantly more false keratoconus than controls (n = 12). There was a significant between-group difference in the morphology of the anterior corneal surface and the central curvature of the cornea. Changes in corneal morphology observed in this study could be useful in borderline situations to confirm the diagnosis of pure microphthalmia. © The Author(s) 2015.

  17. Geographical variation in anophthalmia and microphthalmia in England, 1988-94

    Science.gov (United States)

    Dolk, H; Busby, A; Armstrong, B G; Walls, P H

    1998-01-01

    Objective: To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of clusters. Design: Comparison of pattern of residence at birth of cases of anophthalmia and microphthalmia in England in 1988-94, notified to a special register, with pattern of residence of all births. Three groups studied included all cases, all severe cases, and all severe cases of unknown aetiology. Outcome measures: Prevalence rates of anophthalmia and microphthalmia by region and district, and by ward population density and socioeconomic deprivation index of enumeration district grouped into fifths. Clustering expressed as the tendency for the three nearest neighbours of a case to be more likely to be cases than expected by chance, or for there to be more cases within circles of fixed radius of a case than expected by chance. Results: The overall prevalence of anophthalmia and microphthalmia was 1.0 per 10 000 births. Regional and district variation in prevalence did not reach statistical significance. Prevalence was higher in rural than urban areas: the relative risk in the group of wards of lowest population density compared with the most densely populated group was 1.79 (95% confidence interval 1.15 to 2.81) for all cases and 2.37 (1.38 to 4.08) for severe cases. There was no evidence of a trend in risk with socioeconomic deprivation. There was very little evidence of localised clustering. Conclusions: There is very little evidence to support the presence of strongly localised environmental exposures causing clusters of children to be born with anophthalmia or microphthalmia. The excess risk in rural areas requires further investigation. Key messagesClusters of anophthalmia and microphthalmia in England have been alleged in the media, with hypothesised links to environmental exposure such as pesticidesTo answer concerns about clustering a register has been established of all cases of anophthalmia and

  18. Hyperplastic corneal pannus: an immunohistochemical analysis and review.

    Science.gov (United States)

    Jakobiec, Frederick A; Stacy, Rebecca C; Mendoza, Pia R; Chodosh, James

    2014-01-01

    An exuberant corneal pannus usually develops in adults with a history of surgery or trauma in the anterior central stroma and appears as a glistening, vascularized, moderately elevated, well circumscribed white nodule. We describe a 78-year-old woman with such a pannus, which in the past has typically been referred to as keloidal or hypertrophic. The involved eye had only light perception, and she underwent a penetrating keratoplasty that improved her vision to 20/100. Histopathologic and immunohistochemical evaluations of a the specimen disclosed a reactive spindle cell stromal proliferation of myofibroblasts that were smooth muscle actin positive with a low Ki67 proliferation index. Desmin, caldesmon, and calponin were negative, in keeping with the incomplete myofilamentary differentiation of a myofibroblast. There was a generous admixture of CD68/163-positive histiocytes and dispersed C3/5-positive T-lymphocytes. An absence of CD138- and IgG4-positive plasma cells ruled out an IgG4-related disease. For a lesion to be keloidal, the collagen must have a thick hyaline character, sharp edges, and a sparsity of intervening cells and vessels. A hypertrophic pannus would be composed of large swollen cells not necessarily increased in number. We therefore recommend adoption of the term hyperplastic for lesions like that described here because of the obvious increase in cellularity from proliferating myofibroblasts and the lack of true keloidal collagen. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. T1 value of hyperplastic and hypoplastic bone marrow

    International Nuclear Information System (INIS)

    Asai, Sae; Yoshida, Hideo; Yoshikawa, Hiroki; Yashiro, Naofumi; Iio, Masahiro; Takaku, Fumimaro

    1985-01-01

    Magnetic resonance (MR) images of the bone marrow of 18 patients (11 normal control, 4 aplastic anemia, 2 chronic myelocytic leukemia, 1 polycythemia vera) were discussed. MR imager had 0.15T registive system. Sagittal section of the body was obtained with inversion recovery (TR1,000, 1,600/TI 350, 450/TE 13, 40 msec) and saturation recovery (TR 1,000, 2,000/TE 13,40 msec) sequences. T 1 relaxation time was calculated from those images. T 1 value of the thoracic and lumbar vertebral bone marrow which contains red marrow even in elderly patients was measured. The results were as follows: 1) T 1 values of chronic myelocytic leukemia (CML) and polycythemia vera were longer than that of normal. 2) T 1 values of four aplastic anemia were all shorter than normal. CML and polycythemia vera can be called myeloproliferative disease and their bone marrows are hyperplastic, which may explain elongated T 1 . The bone marrow of aplasticanemia is hypoplastic and shows fatty change which may have decreased T 1 . Our results suggest T 1 value of bone marrow is useful to evaluate hematological disorders. (author)

  20. Zinc in human prostate gland. Normal, hyperplastic and cancerous

    International Nuclear Information System (INIS)

    Zaichick, V.Ye.; Sviridova, T.V.; Zaichick, S.V.

    1997-01-01

    Zinc concentration in a prostate gland is much higher than that in other human tissues. Data about zinc changes for different prostate diseases are limited and greatly contradictory. Zinc content was determined for biopsy and resected materials of transrectal puncture tissues from benign prostate hyperplasia (BPH) and prostate cancer. There were 109 patients (50 BPH and 59 cancer) available for the present study. Control group consisted of 37 intact glands of men died an unexpected death (accident, murder, acute cardiac insufficiency, etc.). All materials studied were divided into two parts. One of them was morphologically examined, while another one was subjected to zinc analysis by INAA. Zinc contents (M ± SE) of normal, benign hyperplastic and cancerous prostate glands were found to be 1018 ± 124, 1142 ± 77, and 146 ± 10 μg/g dry tissue, respectively. It was shown that zinc assessments in the materials of transrectal puncture biopsy of indurated prostate sites can be used as an additional test for differential diagnostics of BPH and cancer. Accuracy, sensitivity and specificity of the test are 98 ± 2%. (author)

  1. A male with unilateral microphthalmia reveals a role for TMX3 in eye development

    DEFF Research Database (Denmark)

    Chao, Ryan; Nevin, Linda; Agarwal, Pooja

    2010-01-01

    Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one...... of the deleted genes, TMX3, was expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye. We re-sequenced TMX3 in 162 patients with anophthalmia or microphthalmia, and found two missense substitutions in unrelated patients: c.116G>A, predicting p.Arg39Gln, in a male...

  2. Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94

    Science.gov (United States)

    Busby, A.; Dolk, H.; Collin, R.; Jones, R; Winter, R.

    1998-01-01

    AIM—To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia.
METHODS—Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for England, 1988-94. The population surveyed was all births in England for this time period (4 570 350 births). Cases included live births, stillbirths, or terminations after prenatal diagnosis of congenital anomaly, with anophthalmia/microphthalmia, with or without other malformations and syndromes. Trisomy 13 was subsequently excluded.
RESULTS—The proportion of cases notified by any one information source was not more than 26% (Office for National Statistics Register 22%, paediatricians 26%, district sources 25%). Sixty nine per cent of cases (51% of severe cases) were notified by only one source. A total of 449 cases were reported, prevalence 1.0 per 10 000 births. The prevalence was stable over time, although the proportion notified by clinicians rose in more recent years. Thirty four per cent of affected babies had mild microphthalmia. Of those with severe anophthalmia/microphthalmia, 51% were bilateral, other eye malformations were present in 72%, non-eye malformations in 65%, and a "known aetiology" was attributed in 22%. Three quarters of those severely affected survived infancy.
CONCLUSIONS—Despite high response rates from the sources of information contacted, the lack of duplication between sources indicates the difficulties of retrospective ascertainment and the need for multiple sources when establishing a register. Anophthalmos/microphthalmos is usually associated with other malformations. Most

  3. Biometry and clinical characteristics of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Barrie, K P; Das, N D; Wolf, E D; Bauer, J E; Andresen, T L

    1983-07-01

    Forty-two Miniature Schnauzer pups and adults with congenital cataracts and microphthalmia were evaluated by serial ophthalmic examinations, slit lamp biomicroscopic photography, and A-scan ultrasonography. The cataracts were evident when the eyelids opened at 2 weeks, affecting predominantly the lens nucleus and posterior cortex. Lenticonus was evident in 19% of the cataractous lenses. Progression of the cataracts was variable and related to involvement of the equatorial and posterior cortices. Lens-induced uveitis developed in some adult dogs with advanced hypermature cataracts. The globe and lens were smaller than normal in the cataractous eyes, as ascertained by A-scan ultrasonography. Age-matched comparisons of clear lens carrier Miniature Schnauzers and normal Beagles with the cataractous Miniature Schnauzers indicated affected globes and cataractous lenses were reduced 10% to 20% in their anteroposterior lengths. The microphthalmia appeared related to the congenital microphakic cataract.

  4. Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

    Science.gov (United States)

    Stark, Zornitza; Storen, Rebecca; Bennetts, Bruce; Savarirayan, Ravi; Jamieson, Robyn V

    2011-07-01

    Isolated hypogonadotropic hypogonadism (IHH) is a genetically heterogeneous condition in which patients frequently require assisted reproduction to achieve fertility. In patients with IHH who are otherwise well, no particular increased risk of congenital anomalies in the resultant offspring has been highlighted. Heterozygous mutations in SOX2 are the commonest single-gene cause of anophthalmia/microphthalmia (A/M) and sometimes result in pituitary abnormalities. We report a family with a novel frameshift mutation in the SOX2 transactivation domain, p.Gly280AlafsX91, resulting in bilateral anophthalmia and subtle endocrinological abnormalities in a male sibling, and unilateral microphthalmia in a female sibling. The mutation is present in their mother who has IHH, but has no eye disorders or other anomalies. She underwent assisted reproduction to achieve fertility. This report has important implications for the evaluation of patients with IHH, particularly in the setting of planned infertility treatment.

  5. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

    Science.gov (United States)

    Schilter, K F; Reis, L M; Schneider, A; Bardakjian, T M; Abdul-Rahman, O; Kozel, B A; Zimmerman, H H; Broeckel, U; Semina, E V

    2013-11-01

    Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases. We performed whole-genome copy number variation analysis in 60 patients affected with isolated or syndromic A/M. Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia. Other variants of interest included regions with a known role in human disease (likely pathogenic) as well as novel rearrangements (uncertain significance). A 2.2-Mb duplication of 3q29 in a patient with non-syndromic anophthalmia and an 877-kb duplication of 11p13 (PAX6) and a 1.4-Mb deletion of 17q11.2 (NF1) in two independent probands with syndromic microphthalmia and other ocular defects were identified; while ocular anomalies have been previously associated with 3q29 duplications, PAX6 duplications, and NF1 mutations in some cases, the ocular phenotypes observed here are more severe than previously reported. Three novel regions of possible interest included a 2q14.2 duplication which cosegregated with microphthalmia/microcornea and congenital cataracts in one family, and 2q21 and 15q26 duplications in two additional cases; each of these regions contains genes that are active during vertebrate ocular development. Overall, this study identified causative copy number mutations and regions with a possible role in ocular disease in 17% of A/M cases. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Digital evaluation of orbital development in chinese children with congenital microphthalmia.

    Science.gov (United States)

    Yang, Guang; Wang, Jing; Chang, Qinglin; Wang, Zhenchang; Geng, Yulei; Li, Dongmei

    2012-09-01

    To evaluate the asymmetry of bilateral orbital development in Chinese children with congenital microphthalmia and to provide a criterion for tailoring treatment timing and therapy. Retrospective cohort study. By combining multisection helical computerized tomography imaging with a computer-aided design system, we measured 38 children between 0 and 6 years of age with congenital microphthalmia and 70 normal children of the same age group. Variables were measured, including orbital volume, depth, width, and height and eyeball volume. Displacement of the orbital rims was calculated by mirroring the unaffected orbit across the midsagittal plane of body. Significant differences were observed between the orbital volume, eyeball volume, orbital width, and orbital height of the affected and unaffected sides of children with congenital microphthalmia (P development is evident primarily in the inferior and lateral rims, correlating mostly with zygomatic and then maxilla and frontal bone. The growth of the affected orbit slows down or even stagnates by 3 years of age. Intervention therapy before 3 years of age was critical. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosarcoma: 4-year follow-up with resolution

    Energy Technology Data Exchange (ETDEWEB)

    Vieira, R.L.V.; Amaral, D.T. [Federal University of Sao Paulo, Department of Radiology, Sao Paulo (Brazil); Jesus-Garcia, Filho R. [Federal University of Sao Paulo, Department of Orthopedic Surgery, Sao Paulo (Brazil); Saraiva, G. [Federal University of Sao Paulo, Department of Endocrinology, Sao Paulo (Brazil); Fernandes, A.R.C. [University of California San Diego, Department of MSK Radiology, San Diego, CA (United States); Resnick, D.

    2006-06-15

    We report a case of hyperplastic callus formation that occurred in both femurs in a patient with type V osteogenesis imperfecta (OI), with 4-year follow-up and resolution. The clinical, histological and imaging aspects of this condition are discussed. Recognition of the hyperplastic callus formation in this particular type of OI is important in order to avoid misdiagnosis. (orig.)

  8. Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosarcoma: 4-year follow-up with resolution

    International Nuclear Information System (INIS)

    Vieira, R.L.V.; Amaral, D.T.; Jesus-Garcia, Filho R.; Saraiva, G.; Fernandes, A.R.C.; Resnick, D.

    2006-01-01

    We report a case of hyperplastic callus formation that occurred in both femurs in a patient with type V osteogenesis imperfecta (OI), with 4-year follow-up and resolution. The clinical, histological and imaging aspects of this condition are discussed. Recognition of the hyperplastic callus formation in this particular type of OI is important in order to avoid misdiagnosis. (orig.)

  9. Increased polyp detection using narrow band imaging compared with high resolution endoscopy in patients with hyperplastic polyposis syndrome

    NARCIS (Netherlands)

    Boparai, K. S.; van den Broek, F. J. C.; van Eeden, S.; Fockens, P.; Dekker, E.

    2011-01-01

    Hyperplastic polyposis syndrome (HPS) is associated with colorectal cancer and is characterized by multiple hyperplastic polyps, sessile serrated adenomas (SSAs) and adenomas. Narrow band imaging (NBI) may improve the detection of polyps in HPS. We aimed to compare polyp miss rates with NBI with

  10. Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study.

    Science.gov (United States)

    Dharmasena, Aruna; Keenan, Tiarnan; Goldacre, Raph; Hall, Nick; Goldacre, Michael J

    2017-06-01

    To study trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformations in England, along with changes in hospital admission rates for these conditions. Using English National Hospital Episode Statistics (1999-2011), the annual rate of hospital admissions related to anophthalmia, microphthalmia and congenital malformations of orbit/lacrimal apparatus was calculated per 100 000 infants. The records were person-linked, which enabled patients' 'first record' rates to be calculated as proxies for incidence. Similar analyses on pre-1999 datasets were also undertaken for microphthalmia. There was no systematic increase or decrease over time in the incidence of these conditions, but there was some fluctuation from year to year. The incidence of congenital anophthalmia ranged from 2.4 (95% CI 1.3 to 4.0) per 100 000 infants in 1999 to 0.4 (0 to 1.3) in 2011. The annual incidence of congenital microphthalmia was 10.8 (8.2 to 13.5) in 1999 and 10.0 (7.6 to 12.4) in 2011. The annual incidence of congenital orbital/lacrimal malformations was 0.5 (0 to 1.1) in 1999 and 0.7 (0 to 1.4) in 2011. Including multiple admissions per person, admission rates for microphthalmia showed a linear increase over time from 1999. The earlier data for microphthalmia indicated an increase in admission rates, but no change in incidence, from 1971 to 2011. The incidence of these conditions has remained stable in England in recent years. Although the incidence of microphthalmia was stable, hospital admission rates for it increased over time reflecting an increase in multiple admissions per affected person. These data may be useful for planning service provision. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  11. Lack of association between the 677 C to T polymorphism and colorectal hyperplastic polyps

    NARCIS (Netherlands)

    Ulrich, C.M.; Kampman, E.; Bigler, J.; Schwartz, S.M.; Chen, C.; Bostick, R.; Fosdick, L.

    2000-01-01

    Colorectal hyperplastic polyps are benign lesions that share many risk factors with colorectal adenomas and cancers. Low folate intakes are associated with an increased risk of colon cancer. The enzyme 5,10-methylene-tetrahydrofolate reductase (MTHFR) may be linked to DNA methylation and nucleotide

  12. MRI and CT features of hyperplastic callus in osteogenesis imperfecta tarda

    Energy Technology Data Exchange (ETDEWEB)

    Dobrocky, I. [Diagnostic Center Meidling, Vienna (Austria); Seidl, G. [Diagnostic Center Meidling, Vienna (Austria)]|[Universitaetsklinik fuer Radiodiagnostik, Vienna (Austria); Grill, F. [Orthopaedisches Spital Wien Speising, Vienna (Austria)

    1999-05-01

    We describe the MRI and CT findings of hyperplastic callus formation simulating a tumour of pelvis in patient with osteogenesis imperfecta tarda. Possible differential diagnoses and the impact of different imaging techniques on the correct diagnosis are discussed. (orig.) With 3 figs., 5 refs.

  13. Metastatic Carcinoma Occurring in a Gastric Hyperplastic Polyp Mimicking Primary Gastric Cancer: The First Reported Case

    Directory of Open Access Journals (Sweden)

    Gabriel M. Groisman

    2014-01-01

    Full Text Available Hyperplastic polyps of the stomach are regarded as benign. However, in rare cases they may contain incipient primary carcinomas. To our knowledge, breast carcinoma metastatic to a gastric hyperplastic polyp has not yet been reported. We describe the case of a 69-year-old woman to whom a gastric polyp was endoscopically excised. The patient had previously undergone a right mastectomy for mixed, invasive ductal and lobular carcinoma 5 years earlier. Histological sections from the gastric lesion showed typical features of hyperplastic polyp with foci of poorly differentiated adenocarcinoma including signet ring cells infiltrating the lamina propria. The histologic findings were consistent with a primary gastric cancer. However, the carcinoma cells were immunopositive for estrogen and progesterone receptors and GATA3 and negative for CDX2, Hep Par 1, and MUC5AC. E-cadherin showed membranous reactivity in some of the carcinoma cells while in others it was negative. Accordingly, metastatic mixed, lobular and ductal breast carcinoma was diagnosed. We conclude that metastatic adenocarcinoma mimicking primary gastric cancer can be rarely encountered in hyperplastic gastric polyps.

  14. Vocal Fold Hyperplastic Lesions: an Evaluation of Surgical Outcome with Videolaryngostroboscopy

    Directory of Open Access Journals (Sweden)

    Melek Kezban Gürbüz

    2013-06-01

    Full Text Available Background: Vocal fold hyperplastic lesions are premalignant lesions that can be treated effectively by removal of the lesions surgically. Aims: The aim of this study was to discuss the success of surgery in patients with vocal fold hyperplastic lesions in terms of preserving vibratory function by comparing the preoperative and postoperative videolaryngostroboscopy findings. Study Design: The medical charts and videolaryngostroboscopic recordings of patients diagnosed with hyperplastic lesions on the vocal folds were reviewed retrospectively. Methods: Twenty seven patients with unilateral lesions who underwent type1 subepithelial cordectomy were enrolled in the study. The videolaryngostroboscopic recordings were evaluated by three raters who were not the operating surgeon and who were blinded to the histology of patients. To evaluate the videolaryngostroboscopic findings, a form, which is a modification of criteria described by Hirano and Bless, was used. Preoperative and 6th month postoperative videolaryngostroboscopic recordings were compared with each other and with recordings of the control group, which included 50 healthy volunteers. Results: All videolaryngostroboscopic findings, except false cord vibration, were significantly improved after surgery. Conclusion: The principle of vocal fold surgery in patients with benign lesions is to preserve the vibratory tissue. This principle also applies to patients with hyperplastic lesions that are premalignant. The hydrodissection technique may be beneficial for this purpose.

  15. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997.

    Science.gov (United States)

    Shaw, Gary M; Carmichael, Suzan L; Yang, Wei; Harris, John A; Finnell, Richard H; Lammer, Edward J

    2005-08-15

    There is a paucity of epidemiologic information about the eye malformations anophthalmia and microphthalmia. Using data from a large population-based registry, we explored prevalences and maternal/infant characteristics associated with anophthalmia and bilateral microphthalmia. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with congenital malformations using multiple source ascertainment. Approximately 2.5 million births (liveborn and stillborn) occurred during the ascertainment period, 1989-1997. Information on maternal and infant/fetal characteristics was obtained from California birth certificate and fetal death files. The prevalence per 10,000 livebirths and stillbirths for anophthalmia was 0.18 and for bilateral microphthalmia was 0.22. These estimates reflect prevalences among births without chromosomal anomalies. Relative risks of anophthalmia were modestly higher among women aged 40 or more (relative risk = 2.0, 95% confidence interval 0.5-8.6). Risks were substantially lower for those mothers with >12 years of education, even after adjusting for other study factors, relative risk = 0.6 (0.2-1.7). The risk of anophthalmia was approximately twofold among multiple births compared to singletons. Similar to results for anophthalmia, decreased risks for bilateral microphthalmia were observed for maternal education of 12 years or more and increased risks observed for multiple births. These data show descriptive epidemiologic features of anophthalmia and bilateral microphthalmia. Copyright 2005 Wiley-Liss, Inc.

  16. Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    NARCIS (Netherlands)

    van Rahden, V.A.; Rau, I.; Fuchs, S.; Kosyna, F.K.; de Almeida, H.L.; Fryssira, H.; Isidor, B.; Jauch, A.; Joubert, M.; Lachmeijer, A.M.A.; Zweier, C.; Moog, U.; Kutsche, K.

    2014-01-01

    Background: Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase

  17. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

    Science.gov (United States)

    Deml, Brett; Reis, Linda M; Lemyre, Emmanuelle; Clark, Robin D; Kariminejad, Ariana; Semina, Elena V

    2016-04-01

    Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively; however, the majority of cases lack a genetic etiology. We analyzed 28 probands affected with A/M spectrum (without mutations in SOX2/FOXE3) by whole-exome sequencing. Analysis of 83 known A/M factors identified pathogenic/likely pathogenic variants in PAX6, OTX2 and NDP in three patients. A novel heterozygous likely pathogenic variant in PAX6, c.767T>C, p.(Val256Ala), was identified in two brothers with bilateral microphthalmia, coloboma, primary aphakia, iris hypoplasia, sclerocornea and congenital glaucoma; the unaffected mother appears to be a mosaic carrier. While A/M has been reported as a rare feature, this is the first report of congenital primary aphakia in association with PAX6 and the identified allele represents the first variant in the PAX6 homeodomain to be associated with A/M. A novel pathogenic variant in OTX2, c.651delC, p.(Thr218Hisfs*76), in a patient with syndromic bilateral anophthalmia and a hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu), in two brothers with isolated bilateral microphthalmia and sclerocornea were also identified. Pathogenic/likely pathogenic variants were not discovered in the 25 remaining A/M cases. This study underscores the utility of whole-exome sequencing for identification of causative mutations in highly variable ocular phenotypes as well as the extreme genetic heterogeneity of A/M conditions.

  18. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.

    Science.gov (United States)

    Skalicky, Simon E; White, Andrew J R; Grigg, John R; Martin, Frank; Smith, Jeremy; Jones, Michael; Donaldson, Craig; Smith, James E H; Flaherty, Maree; Jamieson, Robyn V

    2013-12-01

    Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. This retrospective consecutive case series was conducted at a tertiary referral center. Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology who attended the Westmead Children's Hospital, Sydney, from 1981-2012. Cases were grouped on the basis of the presence or absence of an optic fissure closure defect (OFCD); those with OFCD were further subdivided into microphthalmic and nonmicrophthalmic cases. Anophthalmic cases were considered as a separate group. Associated ocular and systemic abnormalities and inheritance patterns were assessed. Of 141 cases, 61 (43%) were microphthalmic non-OFCD (NOFCD), 34 (24%) microphthalmic OFCD, 32 (23%) nonmicrophthalmic coloboma (OFCD), 9 (6%) anophthalmic, and 5 (4%) were unclassified. Sixty-three (45%) had bilateral disease. Eighty-four patients (60%) had an associated ocular abnormality; of these, cataract (P < .001) and posterior segment anomalies (P < .001) were most common in the NOFCD group. Forty-eight (34%) had an associated systemic abnormality, most commonly neurological, musculoskeletal and facial, urological and genital, or cardiac. Neurological abnormalities were most common in the anophthalmic group (P = .003), while urological abnormalities were particularly seen in the OFCD groups (P = .009). Familial cases were identified in both the OFCD and NOFCD groups, with a likely autosomal dominant inheritance pattern in 9 of 10 families. This series indicated that the OFCD/NOFCD distinction may be useful in guiding evaluation for ocular and systemic associations, as well as the direction and analysis of genetic investigation.

  19. Studies on congenital hereditary cataract and microphthalmia of the miniature schnauzer dog.

    Science.gov (United States)

    Shastry, B S; Reddy, V N

    1994-09-30

    Hereditary cataract in dogs occurs as an autosomal recessive trait. The opacity is primarily in the lens nucleus and posterior cortex. The affected animals also have other ocular abnormalities such as microphthalmia. To understand the genetic basis of this disorder, we have analyzed leukocyte DNA from affected and normal dogs for possible mutations in the homeobox containing gene and myotonic dystrophy locus. The results show that there are no signs of microdeletion, insertion, point mutation and rearrangements in these loci. Although these observations cannot completely rule out the possibility of point mutations, they suggest that the above loci are unlikely to be associated with the disease.

  20. Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma

    Science.gov (United States)

    London, Nikolas J.S.; Kessler, Patricia; Williams, Bryan; Pauer, Gayle J.; Hagstrom, Stephanie A.

    2009-01-01

    Purpose Microphthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component. Rx is a homeobox gene expressed early in the developing retina and is important in retinal cell fate specification as well as stem cell proliferation. We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia for RX mutations. Methods We used standard PCR and automated sequencing techniques to amplify and sequence each of the three RX exons. Patients’ charts were reviewed for clinical information. The pathologic impact of the identified sequence variant was analyzed by computational methods using PolyPhen and PMut algorithms. Results In addition to the polymorphisms we identified a single patient with coloboma having a heterozygous nucleotide change (g.197G>C) in the first exon that results in a missense mutation of arginine to threonine at amino acid position 66 (R66T). In silico analysis predicted R66T to be a deleterious mutation. Conclusions Sequence variations in RX are uncommon in patients with congenital ocular malformations, but may play a role in disease pathogenesis. We observed a missense mutation in RX in a patient with a small, typical chorioretinal coloboma, and postulate that the mutation is responsible for the patient’s phenotype. PMID:19158959

  1. Management of Chronic Hyperplastic Pulpitis in Mandibular Molars of Middle Aged Adults- A Multidisciplinary Approach

    Science.gov (United States)

    Lingeswaran, Somiya; Ari, Geetha; Thyagarajan, Ramakrishnan; Logaranjani, Anitha

    2016-01-01

    The molar tooth of children and young adults is a common site for chronic hyperplastic pulpitis (pulp polyp). It rarely occurs in middle aged adults. This condition is usually characterized by extensive involvement of the pulp, dictating the extraction of involved tooth. Extraction of permanent molars can lead to transient or permanent malocclusion, aesthetic, phonetic and functional problems. Here we report a case of pulp polyp in mandibular first molar of a 33-year-old woman that grew into the carious cavity. The aim of this case report is to describe the diagnosis of a chronic hyperplastic pulpitis involving the permanent molar as well as to describe its management in order to preserve them as a functional unit of the dentition. PMID:26894192

  2. Principles of hyperplasticity an approach to plasticity theory based on thermodynamic principles

    CERN Document Server

    Houlsby, Guy T

    2007-01-01

    A new approach to plasticity theory firmly routed in and compatible with the laws of thermodynamicsProvides a common basis for the formulation and comparison of many existing plasticity modelsIncorporates and introduction to elasticity, plasticity, thermodynamics and their interactionsShows the reader how to formulate constitutive models completely specified by two scalar potential functions from which the incremental responses of any hyperplastic model can be derived.

  3. Renal progenitor cells contribute to hyperplastic lesions of podocytopathies and crescentic glomerulonephritis.

    Science.gov (United States)

    Smeets, Bart; Angelotti, Maria Lucia; Rizzo, Paola; Dijkman, Henry; Lazzeri, Elena; Mooren, Fieke; Ballerini, Lara; Parente, Eliana; Sagrinati, Costanza; Mazzinghi, Benedetta; Ronconi, Elisa; Becherucci, Francesca; Benigni, Ariela; Steenbergen, Eric; Lasagni, Laura; Remuzzi, Giuseppe; Wetzels, Jack; Romagnani, Paola

    2009-12-01

    Glomerular injury can involve excessive proliferation of glomerular epithelial cells, resulting in crescent formation and obliteration of Bowman's space. The origin of these hyperplastic epithelial cells in different glomerular disorders is controversial. Renal progenitors localized to the inner surface of Bowman's capsule can regenerate podocytes, but whether dysregulated proliferation of these progenitors contributes to crescent formation is unknown. In this study, we used confocal microscopy, laser capture microdissection, and real-time quantitative reverse transcriptase-PCR to demonstrate that hypercellular lesions of different podocytopathies and crescentic glomerulonephritis consist of three distinct populations: CD133(+)CD24(+)podocalyxin (PDX)(-)nestin(-) renal progenitors, CD133(+)CD24(+)PDX(+)nestin(+) transitional cells, and CD133(-)CD24(-)PDX(+)nestin(+) differentiated podocytes. In addition, TGF-beta induced CD133(+)CD24(+) progenitors to produce extracellular matrix, and these were the only cells to express the proliferation marker Ki67. Taken together, these results suggest that glomerular hyperplastic lesions derive from the proliferation of renal progenitors at different stages of their differentiation toward mature podocytes, providing an explanation for the pathogenesis of hyperplastic lesions in podocytopathies and crescentic glomerulonephritis.

  4. Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance

    Directory of Open Access Journals (Sweden)

    Jeffery Glen

    2008-05-01

    Full Text Available Abstract Background The transcription factor Pax6 is expressed by many cell types in the developing eye. Eyes do not form in homozygous loss-of-function mouse mutants (Pax6Sey/Sey and are abnormally small in Pax6Sey/+ mutants. Eyes are also abnormally small in PAX77 mice expressing multiple copies of human PAX6 in addition to endogenous Pax6; protein sequences are identical in the two species. The developmental events that lead to microphthalmia in PAX77 mice are not well-characterised, so it is not clear whether over- and under-expression of Pax6/PAX6 cause microphthalmia through similar mechanisms. Here, we examined the consequences of over-expression for the eye and its axonal connections. Results Eyes form in PAX77+/+ embryos but subsequently degenerate. At E12.5, we found no abnormalities in ocular morphology, retinal cell cycle parameters and the incidence of retinal cell death. From E14.5 on, we observed malformations of the optic disc. From E16.5 into postnatal life there is progressively more severe retinal dysplasia and microphthalmia. Analyses of patterns of gene expression indicated that PAX77+/+ retinae produce a normal range of cell types, including retinal ganglion cells (RGCs. At E14.5 and E16.5, quantitative RT-PCR with probes for a range of molecules associated with retinal development showed only one significant change: a slight reduction in levels of mRNA encoding the secreted morphogen Shh at E16.5. At E16.5, tract-tracing with carbocyanine dyes in PAX77+/+ embryos revealed errors in intraretinal navigation by RGC axons, a decrease in the number of RGC axons reaching the thalamus and an increase in the proportion of ipsilateral projections among those RGC axons that do reach the thalamus. A survey of embryos with different Pax6/PAX6 gene dosage (Pax6Sey/+, Pax6+/+, PAX77+ and PAX77+/+ showed that (1 the total number of RGC axons projected by the retina and (2 the proportions that are sorted into the ipsilateral and

  5. [Anophthalmia and microphthalmia requires multidisciplinary care. Many of the children also have other medical problems].

    Science.gov (United States)

    Jugård, Ylva; Odersjö, Marie; Topa, Alexandra; Lindgren, Gun; Andersson Grönlund, Marita

    2015-07-13

    Anophthalmia/microphthalmia (A/M) are rare congenital eye malformations. Early intervention with ocular prosthesis can stimulate orbital growth and prevent facial asymmetry. We reviewed medical records from 18 individuals with A/M (0.8-31 years) treated with ocular prosthesis at Sahlgrenska University Hospital between 2000 and 2012. A majority had other ocular findings. Seven had subnormal visual acuity in the fellow eye, one third were in contact with vision support services and half of the group wore glasses. Eleven individuals had extra-ocular findings such as cardiac defect, hearing impairment and neuropsychiatric disorders, possibly indicating syndromic conditions. We suggest that investigation of A/M children should include ultrasound of the eye, optionally visual evoked potential and magnetic resonance imaging of the CNS. The ophthalmologist should initiate treatment with prosthesis, pediatric assessment, hearing tests and genetic counseling, but should also monitor visual development of the fellow eye.

  6. [Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation].

    Science.gov (United States)

    Sudovskaya, T V; Filatova, I A; Kiseleva, T N; Bobrovskaya, Yu A; Kokoeva, N Sh

    2016-01-01

    To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment. A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays). Basing on the examination we have determined the common types of congenital micro- and anophthalmia in children. We have also developed a stepwise prosthetic treatment aimed at better cosmetic rehabilitation. Indications and contraindications for the use of ocular prostheses in children with congenital micro- and anophthalmia have been identified. The proposed method of stepwise prosthetics is the principal option for conservative rehabilitation of children with congenital micro- or anophthalmia.

  7. Design, construction, and analysis of specific zinc finger nucleases for microphthalmia - associate transcription factor

    Directory of Open Access Journals (Sweden)

    Wenwen Wang

    2012-08-01

    Full Text Available This work studied the design, construction, and cleavage analysis of zinc finger nucleases (ZFNs that could cut the specific sequences within microphthalmia - associate transcription factor (mitfa of zebra fish. The target site and ZFPs were selected and designed with zinc finger tools, while the ZFPs were synthesized using DNAWorks and two-step PCR. The ZFNs were constructed, expressed, purified, and analyzed in vitro. As expected, the designed ZFNs could create a double-stand break (DSB at the target site in vitro. The DNAWorks, two-step PCR, and an optimized process of protein expression were firstly induced in the construction of ZFNs successfully, which was an effective and simplified protocol. These results could be useful for further application of ZFNs - mediated gene targeting.

  8. Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.

    Directory of Open Access Journals (Sweden)

    Kenta Wada

    Full Text Available Microphthalmia is a severe ocular disorder, and this condition is typically caused by mutations in transcription factors that are involved in eye development. Mice carrying mutations in these transcription factors would be useful tools for defining the mechanisms underlying developmental eye disorders. We discovered a new spontaneous recessive microphthalmos mouse mutant in the Japanese wild-derived inbred strain KOR1/Stm. The homozygous mutant mice were histologically characterized as microphthalmic by the absence of crystallin in the lens, a condition referred to as aphakia. By positional cloning, we identified the nonsense mutation c.444C>A outside the genomic region that encodes the homeodomain of the paired-like homeodomain transcription factor 3 gene (Pitx3 as the mutation responsible for the microphthalmia and aphakia. We examined Pitx3 mRNA expression of mutant mice during embryonic stages using RT-PCR and found that the expression levels are higher than in wild-type mice. Pitx3 over-expression in the lens during developmental stages was also confirmed at the protein level in the microphthalmos mutants via immunohistochemical analyses. Although lens fiber differentiation was not observed in the mutants, strong PITX3 protein signals were observed in the lens vesicles of the mutant lens. Thus, we speculated that abnormal PITX3, which lacks the C-terminus (including the OAR domain as a result of the nonsense mutation, is expressed in mutant lenses. We showed that the expression of the downstream genes Foxe3, Prox1, and Mip was altered because of the Pitx3 mutation, with large reductions in the lens vesicles in the mutants. Similar profiles were observed by immunohistochemical analysis of these proteins. The expression profiles of crystallins were also altered in the mutants. Therefore, we speculated that the microphthalmos/aphakia in this mutant is caused by the expression of truncated PITX3, resulting in the abnormal expression of

  9. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

    Directory of Open Access Journals (Sweden)

    Johnston Jennifer J

    2009-12-01

    Full Text Available Abstract Background Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome. Case Presentation The patient was subjected to clinical and molecular evaluation, including array CGH analysis. The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, chordee, ventriculoseptal defect, patent ductus arteriosus, posteriorly rotated ears, hypotonia, growth retardation with delayed bone age, and mental retardation. The patient was found to have an approximately 5.6 Mb deletion of 16q11.2q12.1 by microarray based-comparative genomic hybridization, which includes the SALL1 gene, which causes Townes-Brocks syndrome. Conclusions Deletions of 16q11.2q12.2 have been reported in several individuals, although those prior reports did not note microphthalmia or anophthalmia. This region includes SALL1, which causes Townes-Brocks syndrome. In retrospect, this child has a number of features that can be explained by the SALL1 deletion, although it is not clear if the microphthalmia is a rare feature of Townes-Brocks syndrome or caused by other mechanisms. These data suggest that rare copy number changes may be a cause of syndromic microphthalmia allowing a personalized genomic medicine approach to the care of patients with these aberrations.

  10. Hypervascular hyperplastic nodules appearing in chronic alcoholic liver disease: benign intrahepatic nodules mimicking hepatocellular carcinoma

    International Nuclear Information System (INIS)

    Park, Won Kyu; Chang, Jay Chun; Kim, Jae Woon

    2006-01-01

    Hypervascular hyperplastic nodules in those patients with chronic alcoholic liver disease and who are hepatitis B and C negative have recently been reported on. The purpose of this study was to correlate the radiologic and pathologic findings with the clinical significance of these hypervascular hyperplastic nodules in chronic alcoholic liver disease. The study included eight hypervascular nodules of seven patients with chronic alcoholic liver disease, and these patients abused alcohol for more than 20 years. Eight hypervascular nodules were seen on the arterial phase of dynamic CT scans, but the possibility of HCC was excluded pathologically (n=4) or clinically. The radiologic and pathologic findings, and the changes of these nodules on follow up CT scans were retrospectively analyzed. All nodules showed good enhancement on the arterial phase. The tissue equilibrium phase of the dynamic CT scans showed isodensity in seven patients and low density in one patient. Ultrasound scans revealed hypoechoic findings for three nodules, isoechoic findings for two nodules, hyperechoic findings for one nodules, and two nodules were not detected. Angiograms (n=6) showed late incremental tumor staining, and all the nodules were well seen on the sinusoidal phase. CT during hepatic angiography (n=4) showed well stained tumor. CT during arterial portography (n=4) showed no defect in three nodules and nodular defect in on nodule. The MR images (n=3) showed low signal intensity in two nodules and iso-signal intensity in one nodule on T2WI. Five of six cases for which follow up CT scans were performed showed decrease in size and one was disappeared. Radiologically, it is often difficult to differentiate the hypervascular hyperplastic nodules seen in the chronic alcoholic liver disease from hepatocellular carcinoma, and histological confirmation is needed for excluded hepatocellular carcinoma. However, late tumor staining during the sinusoidal phase without any blood supply by feeding

  11. Hypervascular hyperplastic nodules appearing in chronic alcoholic liver disease: benign intrahepatic nodules mimicking hepatocellular carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Park, Won Kyu; Chang, Jay Chun; Kim, Jae Woon [College of Medicine, Yeungnam University, Daegu (Korea, Republic of)] (and others)

    2006-02-15

    Hypervascular hyperplastic nodules in those patients with chronic alcoholic liver disease and who are hepatitis B and C negative have recently been reported on. The purpose of this study was to correlate the radiologic and pathologic findings with the clinical significance of these hypervascular hyperplastic nodules in chronic alcoholic liver disease. The study included eight hypervascular nodules of seven patients with chronic alcoholic liver disease, and these patients abused alcohol for more than 20 years. Eight hypervascular nodules were seen on the arterial phase of dynamic CT scans, but the possibility of HCC was excluded pathologically (n=4) or clinically. The radiologic and pathologic findings, and the changes of these nodules on follow up CT scans were retrospectively analyzed. All nodules showed good enhancement on the arterial phase. The tissue equilibrium phase of the dynamic CT scans showed isodensity in seven patients and low density in one patient. Ultrasound scans revealed hypoechoic findings for three nodules, isoechoic findings for two nodules, hyperechoic findings for one nodules, and two nodules were not detected. Angiograms (n=6) showed late incremental tumor staining, and all the nodules were well seen on the sinusoidal phase. CT during hepatic angiography (n=4) showed well stained tumor. CT during arterial portography (n=4) showed no defect in three nodules and nodular defect in on nodule. The MR images (n=3) showed low signal intensity in two nodules and iso-signal intensity in one nodule on T2WI. Five of six cases for which follow up CT scans were performed showed decrease in size and one was disappeared. Radiologically, it is often difficult to differentiate the hypervascular hyperplastic nodules seen in the chronic alcoholic liver disease from hepatocellular carcinoma, and histological confirmation is needed for excluded hepatocellular carcinoma. However, late tumor staining during the sinusoidal phase without any blood supply by feeding

  12. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia

    DEFF Research Database (Denmark)

    Roos, L; Fang, M; Dali, C

    2013-01-01

    to the identification of new genes. Very recently, homozygous variations within ALDH1A3 have been associated with autosomal recessive microphthalmia with or without cysts or coloboma, and with variable subphenotypes of developmental delay/autism spectrum disorder in eight families. In a consanguineous family where...... three of the five siblings were affected with microphthalmia/coloboma, we identified a novel homozygous missense mutation in ALDH1A3 using exome sequencing. Of the three affected siblings, one had intellectual disability and one had intellectual disability and autism, while the last one presented...... with normal development. This study contributes further to the description of the clinical spectrum associated with ALDH1A3 mutations, and illustrates the interfamilial clinical variation observed in individuals with ALDH1A3 mutations....

  13. Digital evaluation of orbital development after self-inflating hydrogel expansion in Chinese children with congenital microphthalmia.

    Science.gov (United States)

    Hou, Zhijia; Xian, Junfang; Chang, Qinglin; Wei, Wenbin; Li, Dongmei

    2016-05-01

    Assessment of the growth of bony orbit in children with blind microphthalmia is essential to its management. In this study, variables were measured to evaluate the development of the bony microphthalmic orbits after treatment with self-inflating hydrogel expanders. This is a retrospective study with an interventional case series. Thirteen pediatric patients with congenital unilateral blind microphthalmia who had undergone tissue expansion with hydrogel expanders and computed tomography (CT) scanning before and after operation were included in the study. The orbital volume, depth, width, and height and retardation of the orbital rims before and after treatment were measured and analyzed using the iPlan Cranial Software. The mean age at the time of first implantation was 44 months (range, 3-113 months). Of the 13 patients, eleven received orbital expansion, while two received socket expansion. In the orbital expansion group, the mean microphthalmic/contralateral ratio (MCR) of orbital volume was 79.3% before surgery, which increased to 89.8% 3 years post operation (P development of inferior and lateral rims showed the greatest retardation before treatment; the retardation of these two rims decreased significantly at the final measurement (P = 0.004). It is also noted that the development of the microphthalmic orbits was limited in the two patients who only underwent socket expansion. The affected orbit enlarged in children with congenital blind microphthalmia following treatment with hydrogel expanders; this suggested that microphthalmia-associated orbital asymmetry can be treated with self-inflating hydrogel expanders. Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  14. IMMUNITY AND INFECTION IN WOMEN WITH HYPERPLASTIC STATES OF IMMUNE SYSTEM

    Directory of Open Access Journals (Sweden)

    A. A. Lukach

    2008-01-01

    Full Text Available Abstract. One hundred and ninety-nine patients with hyperplastic processes of reproductive system were examined, and 131 (66.16% of them were found to be infected with Chlamydia or Ureaplasma. The mean age of female patients was 42,7±1,35 years. Different infectious agents (e.g. Chlamydia trachomatis, Ureaplasma urealiticum, Mycoplasma hominis were identified in cervical canal of uterine cervix and surgical specimens (biopsy samples of excised myoma, adenomyosis or endometrial hyperplasia. The infected patients were found to have decreased monocytes and neutrophils in blood counts, lower phagocytic activity of monocytes and neutrophils, and decreased bactericidal activity of leukocytes. Other findings included lower CD20+, CD8+ and rFAS CD 95 lymphocytes. Assessment of cytokine-synthesizing activity of CD3+ lymphocytes showed a decrease in both spontaneous and stimulated response (р < 0,001. A weakest spontaneous and stimulated response was found in CD3+/IL-4+ lymphocytes. Analysis of results obtained shows systemic immune disorders and impaired cytokine-synthesizing activity of CD3+ lymphocytes correlating with infection factors in the women with hyperplastic processes of reproductive system. (Med. Immunol., 2008, vol. 10, N 2-3, pp 223-228.

  15. Sugar residues content and distribution in atrophic and hyperplastic postmenopausal human endometrium: lectin histochemistry.

    Science.gov (United States)

    Gheri, G; Bryk, S G; Taddei, G; Moncini, D; Noci, I

    1996-10-01

    A lectin histochemical study was performed to investigate the glycoconjugate saccharidic moieties of the human postmenopausal endometrium (14 atrophic and 15 hyperplastic). For this purpose a battery of seven horseradish peroxidase-conjugated lectins (PNA, SBA, DBA, WGA, ConA, LTA and UEA I) was used. No differences in lectin binding between atrophic and hyperplastic endometria were observed. This investigation allowed us to provide a basic picture of the oligosaccharidic distribution in postmenopausal endometria. The data on the saccharidic distribution at the postmenopausal endometria showed a large amount of sugar residues at all the investigated sites, i.e. the lining and glandular epithelium, the stroma and the vessels (capillary and large vessels). Furthermore, at the endometrial lining epithelium, at the glands and at the wall of the blood vessels of some postmenopausal women the presence of alpha-L-fucosyl residues which bind via alpha (1-6) linkage to penultimate glucosaminyl residues and/or difucosylated oligosaccharides was demonstrated for the first time.

  16. The assessment of angiogenesis and fibroblastic stromagenesis in hyperplastic and pre-invasive breast lesions

    Directory of Open Access Journals (Sweden)

    Louvrou Niki

    2008-04-01

    Full Text Available Abstract Background To investigate the changes of the neoplastic microenvironment during the different morphological alterations of hyperplastic and pre-invasive breast lesions. Methods 78 in situ ductal carcinomas of all degrees of differentiation, 22 atypical ductal hyperplasias, 25 in situ lobular carcinomas, 18 atypical lobular hyperplasias, 32 ductal epithelial hyperplasias of usual type and 8 flat atypias were immunohistochemically investigated for the expression of vascular endothelial growth factor (VEGF, smooth muscle actin (SMA and CD34, while microvessel density (MVD was counted using the anti-CD31 antibody. Results VEGF expression was strongly correlated with MVD in all hyperplastic and pre-invasive breast lesions (p Conclusion Angiogenesis is observed before any significant fibroblastic stromagenesis in pre-invasive breast lesions. A composite phenotype characterized by VEGF positive epithelial cells and SMA positive/CD34 negative stromal cells, is identified mostly in intermediate and high grade DCIS. These findings might imply for new therapeutic strategies using both anti-angiogenic factors and factors selectively targeting tumor stroma in order to prevent the progression of DCIS to invasive carcinoma.

  17. Microphthalmia-associated transcription factor (MITF – from Waardenburg syndrome genetics to melanoma therapy

    Directory of Open Access Journals (Sweden)

    Ivan Šamija

    2010-11-01

    Full Text Available Microphthalmia-associated transcription factor (MITF was first discovered as protein coded by gene whose mutations are associated with Waardenburg syndrome. Later, MITF was shown to be key transcription factor regulating melanogenesis. Further studies have shown that in addition to regulating melanogenesis MITF also plays central role in regulation of melanocyte development and survival. MITF gene is amplified in a proportion of melanomas and ectopic MITF expression can transform melanocytes so MITF can function as melanoma “lineage survival” oncogene. Different studies have further revealed MITF’s important but complex role in tumorigenesis and progression of melanoma. As expected from its important role in melanocytes and melanoma MITF is intricately regulated on all the levels from transcription to post-translational modifications. Although complex mechanisms of MITF functioning are still being revealed, MITF already has a valuable role in managing melanoma patients. Immunohistochemical analysis of MITF has shown both diagnostic and prognostic value in patients with melanoma. MITF is also a valuable specific marker for detection of circulating melanoma cells by reverse-transcription – polymerase chain reaction. MITF has recently been investigated as a potential target for melanoma therapy.

  18. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

    Science.gov (United States)

    Slavotinek, A M; Garcia, S T; Chandratillake, G; Bardakjian, T; Ullah, E; Wu, D; Umeda, K; Lao, R; Tang, P L-F; Wan, E; Madireddy, L; Lyalina, S; Mendelsohn, B A; Dugan, S; Tirch, J; Tischler, R; Harris, J; Clark, M J; Chervitz, S; Patwardhan, A; West, J M; Ursell, P; de Alba Campomanes, A; Schneider, A; Kwok, P-Y; Baranzini, S; Chen, R O

    2015-11-01

    Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four patients with varied developmental eye defects. In the 28 patients with A/M, we identified de novo mutations in three patients (OTX2, p.(Gln91His), RARB, p.Arg387Cys and GDF6, p.Ala249Glu) and inherited mutations in STRA6 in two patients. In patients with developmental eye defects, a female with cataracts and cardiomyopathy had a de novo COL4A1 mutation, p.(Gly773Arg), expanding the phenotype associated with COL4A1 to include cardiomyopathy. A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p.(Ala507Ser) and c.401-1G>A, and we describe eye defects associated with this gene for the first time. Exome sequencing was efficient for identifying mutations in pathogenic genes for which there is no clinical testing available and for identifying cases that expand phenotypic spectra, such as the PNPT1 and COL4A1-associated disorders described here. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

    Science.gov (United States)

    Chassaing, N; Causse, A; Vigouroux, A; Delahaye, A; Alessandri, J-L; Boespflug-Tanguy, O; Boute-Benejean, O; Dollfus, H; Duban-Bedu, B; Gilbert-Dussardier, B; Giuliano, F; Gonzales, M; Holder-Espinasse, M; Isidor, B; Jacquemont, M-L; Lacombe, D; Martin-Coignard, D; Mathieu-Dramard, M; Odent, S; Picone, O; Pinson, L; Quelin, C; Sigaudy, S; Toutain, A; Thauvin-Robinet, C; Kaplan, Josseline; Calvas, Patrick

    2014-10-01

    Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been reported and different genes have been demonstrated to be causative of syndromic and non-syndromic forms of AM. We screened seven AM genes [GDF6 (growth differentiation factor 6), FOXE3 (forkhead box E3), OTX2 (orthodenticle protein homolog 2), PAX6 (paired box 6), RAX (retina and anterior neural fold homeobox), SOX2 (SRY sex determining region Y-box 2), and VSX2 (visual system homeobox 2 gene)] in a cohort of 150 patients with isolated or syndromic AM. The causative genetic defect was identified in 21% of the patients (32/150). Point mutations were identified by direct sequencing of these genes in 25 patients (13 in SOX2, 4 in RAX, 3 in OTX2, 2 in FOXE3, 1 in VSX2, 1 in PAX6, and 1 in GDF6). In addition eight gene deletions (five SOX2, two OTX2 and one RAX) were identified using a semi-quantitative multiplex polymerase chain reaction (PCR) [quantitative multiplex PCR amplification of short fluorescent fragments (QMPSF)]. The causative genetic defect was identified in 21% of the patients. This result contributes to our knowledge of the molecular basis of AM, and will facilitate accurate genetic counselling. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.

    Science.gov (United States)

    Chassaing, N; Ragge, N; Kariminejad, A; Buffet, A; Ghaderi-Sohi, S; Martinovic, J; Calvas, P

    2013-03-01

    PDAC syndrome [Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia (A/M) and Cardiac Defect] is a condition associated with recessive mutations in the STRA6 gene in some of these patients. Recently, cases with isolated anophthalmia have been associated with STRA6 mutations. To determine the minimal findings associated with STRA6 mutations, we performed mutation analysis of the STRA6 gene in 28 cases with anophthalmia. In 7 of the cases the anophthalmia was isolated, in 14 cases it was associated with one of the major features included in PDAC and 7 had other abnormalities. Mutations were identified in two individuals: one with bilateral anophthalmia and some features included in PDAC, who was a compound heterozygote for a missense mutation and a large intragenic deletion, and the second case with all the major features of PDAC and who had a homozygous splicing mutation. This study suggests that STRA6 mutations are more likely to be identified in individuals with A/M and other abnormalities included in the PDAC spectrum, rather than in isolated A/M cases. © 2012 John Wiley & Sons A/S.

  1. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

    Science.gov (United States)

    Schneider, Adele; Bardakjian, Tanya; Reis, Linda M; Tyler, Rebecca C; Semina, Elena V

    2009-12-01

    SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes include anophthalmia/microphthalmia (A/M), optic nerve hypoplasia, ocular coloboma and other eye anomalies. We screened 51 unrelated individuals with A/M and identified SOX2 mutations in the coding region of the gene in 10 individuals. Seven of the identified mutations are novel alterations, while the remaining three individuals carry the previously reported recurrent 20-nucleotide deletion in SOX2, c.70del20. Among the SOX2-positive cases, seven patients had bilateral A/M and mutations resulting in premature termination of the normal protein sequence (7/38; 18% of all bilateral cases), one patient had bilateral A/M associated with a single amino acid insertion (1/38; 3% of bilateral cases), and the final two patients demonstrated unilateral A/M associated with missense mutations (2/13; 15% of all unilateral cases). These findings and review of previously reported cases suggest a potential genotype/phenotype correlation for SOX2 mutations with missense changes generally leading to less severe ocular defects. In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified SOX2 mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families.

  2. SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

    Science.gov (United States)

    Mauri, Lucia; Franzoni, Alessandra; Scarcello, Manuela; Sala, Stefano; Garavelli, Livia; Modugno, Alessandra; Grammatico, Paola; Patrosso, Maria Cristina; Piozzi, Elena; Del Longo, Alessandra; Gesu, Giovanni P; Manfredini, Emanuela; Primignani, Paola; Damante, Giuseppe; Penco, Silvana

    2015-02-01

    Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and PAX6 genes. In syndromic patients the presence of genome imbalances through array CGH was also investigated. No mutations were found for OTX2 and PAX6 genes. Three causative SOX2 mutations were found in subjects with syndromic A. In a subject with syndromic signs and monolateral M, two de novo 6.26 Mb and 1.37 Mb deletions in 4q13.2q13.3 have been identified. A SOX2 missense (p.Ala161Ser) mutation was found in 1 out of 39 a subject with non-syndromic monolateral M. Alanine at position 161 is conserved along phylogeny and the p.Ala161Ser mutation is estimated pathogenic by in silico analysis. However, this mutation was also present in the unaffected patient's daughter. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  3. Hyper-connectivity and hyper-plasticity in the medial prefrontal cortex in the valproic Acid animal model of autism

    DEFF Research Database (Denmark)

    Rinaldi, Tania; Perrodin, Catherine; Markram, Henry

    2008-01-01

    of synapses. The microcircuit alterations found in the prefrontal cortex are therefore similar to the alterations previously found in the somatosensory cortex. Hyper-connectivity and hyper-plasticity in the prefrontal cortex implies hyper-functionality of one of the highest order processing regions...

  4. Application of parametric ultrasound contrast agent perfusion studies for differentiation of hyperplastic adrenal nodules from adenomas—Initial study

    Energy Technology Data Exchange (ETDEWEB)

    Slapa, Rafal Z., E-mail: rz.slapa@gmail.com [Diagnostic Imaging Department, Medical University of Warsaw, Second Faculty of Medicine with English and Physiotherapy Divisions, Warsaw (Poland); Kasperlik–Zaluska, Anna A. [Endocrinology Department, Center for Postgraduate Medical Education, Bielanski Hospital, Warsaw (Poland); Migda, Bartosz [Diagnostic Imaging Department, Medical University of Warsaw, Second Faculty of Medicine with English and Physiotherapy Divisions, Warsaw (Poland); Otto, Maciej [Department of General, Vascular and Transplant Surgery, Medical University of Warsaw, First Faculty of Medicine, Warsaw (Poland); Jakubowski, Wiesław S. [Diagnostic Imaging Department, Medical University of Warsaw, Second Faculty of Medicine with English and Physiotherapy Divisions, Warsaw (Poland)

    2015-08-15

    Highlights: • Adrenal masses may differ on parametric perfusion ultrasound. • Hyperplastic nodules present distinctive patterns on CEUS in regard to adenomas. • Adrenal lesions perfusion should be further investigated with different modalities. - Abstract: Objectives: To evaluate the possibilities of differentiation of non-malignant adrenal masses with the application of the new technique for the evaluation of enhancement after administration of an ultrasound contrast agent: parametric imaging. Patients and Methods: 34 non-malignant adrenal masses in 29 patients were evaluated in a dynamic examination after the administration of ultrasound contrast agent with parametric imaging. Patterns on parametric imaging of arrival time were evaluated. The final diagnosis was based on CT, MRI, biochemical studies, follow up and/or histopathology examination. Results: The study included: 12 adenomas, 10 hyperplastic nodules, 7 myelolipomas, 3 pheochromocytomas, hemangioma with hemorrhage and cyst. The pattern of peripheral laminar inflow of Sonovue on parametric images of arrival time of was 100% sensitive for hyperplastic nodules and 83% specific in regard to adenomas. Conclusions: Parametric contrast enhanced ultrasound may accurately differentiate hyperplastic adrenal nodules from adenomas and could be complementary to CT or MRI. Incorporation of perfusion studies to CT or MRI could possibly enable one-shop complete characterization of adrenal masses. This could deliver additional information in diagnostics of patients with Conn Syndrome and warrants further studies in this cohort of patients.

  5. Application of parametric ultrasound contrast agent perfusion studies for differentiation of hyperplastic adrenal nodules from adenomas—Initial study

    International Nuclear Information System (INIS)

    Slapa, Rafal Z.; Kasperlik–Zaluska, Anna A.; Migda, Bartosz; Otto, Maciej; Jakubowski, Wiesław S.

    2015-01-01

    Highlights: • Adrenal masses may differ on parametric perfusion ultrasound. • Hyperplastic nodules present distinctive patterns on CEUS in regard to adenomas. • Adrenal lesions perfusion should be further investigated with different modalities. - Abstract: Objectives: To evaluate the possibilities of differentiation of non-malignant adrenal masses with the application of the new technique for the evaluation of enhancement after administration of an ultrasound contrast agent: parametric imaging. Patients and Methods: 34 non-malignant adrenal masses in 29 patients were evaluated in a dynamic examination after the administration of ultrasound contrast agent with parametric imaging. Patterns on parametric imaging of arrival time were evaluated. The final diagnosis was based on CT, MRI, biochemical studies, follow up and/or histopathology examination. Results: The study included: 12 adenomas, 10 hyperplastic nodules, 7 myelolipomas, 3 pheochromocytomas, hemangioma with hemorrhage and cyst. The pattern of peripheral laminar inflow of Sonovue on parametric images of arrival time of was 100% sensitive for hyperplastic nodules and 83% specific in regard to adenomas. Conclusions: Parametric contrast enhanced ultrasound may accurately differentiate hyperplastic adrenal nodules from adenomas and could be complementary to CT or MRI. Incorporation of perfusion studies to CT or MRI could possibly enable one-shop complete characterization of adrenal masses. This could deliver additional information in diagnostics of patients with Conn Syndrome and warrants further studies in this cohort of patients

  6. Activation of calcium-sensing receptor accelerates apoptosis in hyperplastic parathyroid cells

    International Nuclear Information System (INIS)

    Mizobuchi, Masahide; Ogata, Hiroaki; Hatamura, Ikuji; Saji, Fumie; Koiwa, Fumihiko; Kinugasa, Eriko; Koshikawa, Shozo; Akizawa, Tadao

    2007-01-01

    Calcimimetic compounds inhibit not only parathyroid hormone (PTH) synthesis and secretion, but also parathyroid cell proliferation. The aim of this investigation is to examine the effect of the calcimimetic compound NPS R-568 (R-568) on parathyroid cell death in uremic rats. Hyperplastic parathyroid glands were obtained from uremic rats (subtotal nephrectomy and high-phosphorus diet), and incubated in the media only or the media which contained high concentration of R-568 (10 -4 M), or 10% cyclodextrin, for 6 h. R-568 treatment significantly suppressed medium PTH concentration compared with that of the other two groups. R-568 treatment not only increased the number of terminal deoxynucleotidyl transferase-mediated dUTP nick end-labeling assay-positive cells, but also induced the morphologic changes of cell death determined by light or electron microscopy. These results suggest that CaR activation by R-568 accelerates parathyroid cell death, probably through an apoptotic mechanism in uremic rats in vitro

  7. The assessment of angiogenesis and fibroblastic stromagenesis in hyperplastic and pre-invasive breast lesions

    International Nuclear Information System (INIS)

    Pavlakis, Kitty; Messini, Irene; Vrekoussis, Thomas; Yiannou, Petros; Keramopoullos, Dimitrios; Louvrou, Niki; Liakakos, Theodoros; Stathopoulos, Efstathios N

    2008-01-01

    To investigate the changes of the neoplastic microenvironment during the different morphological alterations of hyperplastic and pre-invasive breast lesions. 78 in situ ductal carcinomas of all degrees of differentiation, 22 atypical ductal hyperplasias, 25 in situ lobular carcinomas, 18 atypical lobular hyperplasias, 32 ductal epithelial hyperplasias of usual type and 8 flat atypias were immunohistochemically investigated for the expression of vascular endothelial growth factor (VEGF), smooth muscle actin (SMA) and CD34, while microvessel density (MVD) was counted using the anti-CD31 antibody. VEGF expression was strongly correlated with MVD in all hyperplastic and pre-invasive breast lesions (p < 0.05). Stromagenesis, as characterized by an increase in SMA and a decrease in CD34 positive myofibroblasts was observed mostly around ducts harboring high grade in situ carcinoma and to a lesser extent around moderately differentiated DCIS. In these two groups of in situ carcinomas, a positive correlation between MVD and SMA (p < 0.05) was observed. On the contrary, CD34 was found to be inversely related to MVD (p < 0.05). No statistically significant changes of the stromal fibroblasts were observed in low grade DCIS neither in any of the other lesions under investigation as compared to normal mammary intra- and interlobular stroma. Angiogenesis is observed before any significant fibroblastic stromagenesis in pre-invasive breast lesions. A composite phenotype characterized by VEGF positive epithelial cells and SMA positive/CD34 negative stromal cells, is identified mostly in intermediate and high grade DCIS. These findings might imply for new therapeutic strategies using both anti-angiogenic factors and factors selectively targeting tumor stroma in order to prevent the progression of DCIS to invasive carcinoma

  8. Pumpkin seed extract: Cell growth inhibition of hyperplastic and cancer cells, independent of steroid hormone receptors.

    Science.gov (United States)

    Medjakovic, Svjetlana; Hobiger, Stefanie; Ardjomand-Woelkart, Karin; Bucar, Franz; Jungbauer, Alois

    2016-04-01

    Pumpkin seeds have been known in folk medicine as remedy for kidney, bladder and prostate disorders since centuries. Nevertheless, pumpkin research provides insufficient data to back up traditional beliefs of ethnomedical practice. The bioactivity of a hydro-ethanolic extract of pumpkin seeds from the Styrian pumpkin, Cucurbita pepo L. subsp. pepo var. styriaca, was investigated. As pumpkin seed extracts are standardized to cucurbitin, this compound was also tested. Transactivational activity was evaluated for human androgen receptor, estrogen receptor and progesterone receptor with in vitro yeast assays. Cell viability tests with prostate cancer cells, breast cancer cells, colorectal adenocarcinoma cells and a hyperplastic cell line from benign prostate hyperplasia tissue were performed. As model for non-hyperplastic cells, effects on cell viability were tested with a human dermal fibroblast cell line (HDF-5). No transactivational activity was found for human androgen receptor, estrogen receptor and progesterone receptor, for both, extract and cucurbitin. A cell growth inhibition of ~40-50% was observed for all cell lines, with the exception of HDF-5, which showed with ~20% much lower cell growth inhibition. Given the receptor status of some cell lines, a steroid-hormone receptor independent growth inhibiting effect can be assumed. The cell growth inhibition for fast growing cells together with the cell growth inhibition of prostate-, breast- and colon cancer cells corroborates the ethnomedical use of pumpkin seeds for a treatment of benign prostate hyperplasia. Moreover, due to the lack of androgenic activity, pumpkin seed applications can be regarded as safe for the prostate. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  9. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

    Science.gov (United States)

    Riera, Marina; Wert, Ana; Nieto, Isabel; Pomares, Esther

    2017-11-01

    Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single-gene analyses failed to identify the molecular cause. A total of 47 genes previously associated with nonsyndromic MA were included in our panel. WES was performed in one affected patient from each family using the AmpliSeq TM Exome technology and the Ion Proton TM platform. A novel heterozygous OTX2 missense mutation was identified in a patient showing bilateral anophthalmia who inherited the variant from a parent who was a carrier, but showed no sign of the condition. We also describe a new PAX6 missense variant in an autosomal-dominant pedigree affected by mild bilateral microphthalmia showing high intrafamiliar variability, with germline mosaicism determined to be the most plausible molecular cause of the disease. Finally, a heterozygous missense mutation in RBP4 was found to be responsible in an isolated case of bilateral complex microphthalmia. This study highlights that panel-based WES is a reliable and effective strategy for the genetic diagnosis of MA. Furthermore, using this technique, the mutational spectrum of these diseases was broadened, with novel variants identified in each of the OTX2, PAX6, and RBP4 genes. Moreover, we report new cases of reduced penetrance, mosaicism, and variable phenotypic expressivity associated with MA, further demonstrating the heterogeneity of such disorders. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  10. Microphthalmia-associated transcription factor as the molecular target of cadmium toxicity in human melanocytes

    International Nuclear Information System (INIS)

    Chantarawong, Wipa; Takeda, Kazuhisa; Sangartit, Weerapon; Yoshizawa, Miki; Pradermwong, Kantimanee; Shibahara, Shigeki

    2014-01-01

    Highlights: • In human melanocytes, cadmium decreases the expression of MITF-M and tyrosinase and their mRNAs. • In human melanoma cells, cadmium decreases the expression of MITF-M protein and tyrosinase mRNA. • Expression of MITF-H is less sensitive to cadmium toxicity in melanocyte-linage cells. • Cadmium does not decrease the expression of MITF-H in retinal pigment epithelial cells. • MITF-M is the molecular target of cadmium toxicity in melanocytes. - Abstract: Dietary intake of cadmium is inevitable, causing age-related increase in cadmium accumulation in many organs, including hair, choroid and retinal pigment epithelium (RPE). Cadmium has been implicated in the pathogenesis of hearing loss and macular degeneration. The functions of cochlea and retina are maintained by melanocytes and RPE, respectively, and the differentiation of these pigment cells is regulated by microphthalmia-associated transcription factor (MITF). In the present study, we explored the potential toxicity of cadmium in the cochlea and retina by using cultured human melanocytes and human RPE cell lines. MITF consists of multiple isoforms, including melanocyte-specific MITF-M and widely expressed MITF-H. Levels of MITF-M protein and its mRNA in human epidermal melanocytes and HMV-II melanoma cells were decreased significantly by cadmium. In parallel with the MITF reduction, mRNA levels of tyrosinase, the key enzyme of melanin biosynthesis that is regulated by MITF-M, were also decreased. In RPE cells, however, the levels of total MITF protein, constituting mainly MITF-H, were not decreased by cadmium. We thus identify MITF-M as the molecular target of cadmium toxicity in melanocytes, thereby accounting for the increased risk of disability from melanocyte malfunction, such as hearing and vision loss among people with elevated cadmium exposure

  11. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

    Science.gov (United States)

    Morrison, D; FitzPatrick, D; Hanson, I; Williamson, K; van Heyningen, V; Fleck, B; Jones, I; Chalmers, J; Campbell, H

    2002-01-01

    We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinically examined and detailed pregnancy, medical, and family histories obtained. A simple, rational, and apparently robust classification of the eye phenotype was developed based on the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% in the OFCD subgroup. Significant recurrence risks were found in both unilateral and bilateral disease. In four families, one parent had an OFCD, two of which were new diagnoses in asymptomatic subjects. All recurrences in first degree relatives occurred in the OFCD group with a single first cousin recurrence seen in the non-OFCD group. A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3. No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma. PMID:11826019

  12. Microphthalmia-associated transcription factor as the molecular target of cadmium toxicity in human melanocytes

    Energy Technology Data Exchange (ETDEWEB)

    Chantarawong, Wipa [Department of Molecular Biology and Applied Physiology, Tohoku University School of Medicine, Sendai (Japan); Inter Departmental Multidisciplinary Graduate Program in Bioscience, Faculty of Science, Kasetsart University, Bangkok (Thailand); Takeda, Kazuhisa; Sangartit, Weerapon; Yoshizawa, Miki [Department of Molecular Biology and Applied Physiology, Tohoku University School of Medicine, Sendai (Japan); Pradermwong, Kantimanee [Department of Zoology, Faculty of Science, Kasetsart University, Bangkok (Thailand); Shibahara, Shigeki, E-mail: shibahar@med.tohoku.ac.jp [Department of Molecular Biology and Applied Physiology, Tohoku University School of Medicine, Sendai (Japan)

    2014-11-28

    Highlights: • In human melanocytes, cadmium decreases the expression of MITF-M and tyrosinase and their mRNAs. • In human melanoma cells, cadmium decreases the expression of MITF-M protein and tyrosinase mRNA. • Expression of MITF-H is less sensitive to cadmium toxicity in melanocyte-linage cells. • Cadmium does not decrease the expression of MITF-H in retinal pigment epithelial cells. • MITF-M is the molecular target of cadmium toxicity in melanocytes. - Abstract: Dietary intake of cadmium is inevitable, causing age-related increase in cadmium accumulation in many organs, including hair, choroid and retinal pigment epithelium (RPE). Cadmium has been implicated in the pathogenesis of hearing loss and macular degeneration. The functions of cochlea and retina are maintained by melanocytes and RPE, respectively, and the differentiation of these pigment cells is regulated by microphthalmia-associated transcription factor (MITF). In the present study, we explored the potential toxicity of cadmium in the cochlea and retina by using cultured human melanocytes and human RPE cell lines. MITF consists of multiple isoforms, including melanocyte-specific MITF-M and widely expressed MITF-H. Levels of MITF-M protein and its mRNA in human epidermal melanocytes and HMV-II melanoma cells were decreased significantly by cadmium. In parallel with the MITF reduction, mRNA levels of tyrosinase, the key enzyme of melanin biosynthesis that is regulated by MITF-M, were also decreased. In RPE cells, however, the levels of total MITF protein, constituting mainly MITF-H, were not decreased by cadmium. We thus identify MITF-M as the molecular target of cadmium toxicity in melanocytes, thereby accounting for the increased risk of disability from melanocyte malfunction, such as hearing and vision loss among people with elevated cadmium exposure.

  13. Comparison of global gene expression profiles of microdissected human foetal Leydig cells with their normal and hyperplastic adult equivalents

    DEFF Research Database (Denmark)

    Lottrup, Grete; Belling, Kirstine González-Izarzugaza; Leffers, Henrik

    2017-01-01

    the normally clustered and hyperplastic ALCs.WHAT IS KNOWN ALREADY: LCs are the primary androgen producing cells in males throughout development and appear in chronologically distinct populations; FLCs, neonatal LCs and ALCs. ALCs are responsible for progression through puberty and for maintenance...... of reproductive functions in adulthood. In patients with reproductive problems, such as infertility or testicular cancer, and especially in men with high gonadotrophin levels, LC function is often impaired, and LCs may cluster abnormally into hyperplastic micronodules (defined as clusters of > 15 LCs in a cross...... with reproductive disorders possibly reflect subtle changes in the expression of many genes rather than regulatory changes of single genes or pathways. The study provides new insights into the development and maturation of human LCs by the identification of a number of potential functional markers for FLC and ALC....

  14. Analysis of eye lens-specific genes in congenital hereditary cataracts and microphthalmia of the miniature schnauzer dog.

    Science.gov (United States)

    Zhang, R L; Samuelson, D A; Zhang, Z G; Reddy, V N; Shastry, B S

    1991-08-01

    The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alpha, beta, and gamma crystallins and the membrane protein (MP26), are known to maintain the structure and function of the lens, the authors used complimentary DNA (cDNA) fragments that corresponded to the above genes to search for the mutations at their loci in the affected animals. They found no evidence of the gene deletion and rearrangement in any of the five loci. In addition, the hybridizable sequences of the dog DNA to the specific probes for the human chromosome 4 and 18 loci, which are reported to be involved in the abnormality of the human eye, seem to be unaffected. These data support the notion that the hereditary cataracts and microphthalmia in the dog may be associated with genes other than those reported for several animal systems.

  15. Incidence of reactive hyperplastic lesions in the oral cavity: a 10 year retrospective study in Santa Catarina, Brazil.

    Science.gov (United States)

    Dutra, Kamile Leonardi; Longo, Lunardo; Grando, Liliane Janete; Rivero, Elena Riet Correa

    2018-04-17

    Reactive hyperplastic lesions develop in response to a chronic injury simulating an exuberant tissue repair response. They represent some of the most common oral lesions including inflammatory fibrous hyperplasia, oral pyogenic granuloma, giant cell fibroma, peripheral ossifying fibroma, and peripheral giant cell lesions. The incidence of those lesions was investigated in an oral pathology service, and the clinical characteristics, associated etiological factors, concordance between the clinical and histopathological diagnostic was determined. A total of 2400 patient records were screened from 2006 to 2016. Clinical features were recorded from biopsy reports and patients' files. A total of 534 cases of reactive hyperplastic lesions were retrieved and retrospectively studied, representing 22.25% of all diagnoses. The most frequent lesion was inflammatory fibrous hyperplasia (72.09%), followed by oral pyogenic granuloma (11.79%), giant cell fibroma (7.30%), peripheral ossifying fibroma (5.24%), and peripheral giant cell lesions (3.55%). Females were predominantly affected (74.19%), the gingiva and alveolar ridge were the predominant anatomical site (32.89%), and chronic traumatism was presented as the main etiological factor. The age widely ranges from the 1st decade of life to the 7th. Clinically, the reactive hyperplastic lesions consisted of small lesions (0.5-2cm) and shared a strong likeness in color to the oral mucosa. The concordance between the clinical and histopathological diagnostic was high (82.5%). Reactive hyperplastic lesions had a high incidence among oral pathologies. The understanding of their clinical features helps to achieve a clearer clinical and etiological diagnosis, and the knowledge of factors related to their development. This may contribute to adequate treatment and positive prognosis. Copyright © 2018 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  16. Soft tissue regeneration using leukocyte-platelet rich fibrin after exeresis of hyperplastic gingival lesions: two case reports.

    Science.gov (United States)

    di Lauro, A E; Abbate, D; Dell'Angelo, B; Iannaccone, G A; Scotto, F; Sammartino, G

    2015-11-02

    Leukocyte-platelet rich fibrin belongs to a second generation of platelet concentrates that does not need biochemical blood manipulation. It is used for tissue healing and regeneration in periodontal and oral-maxillofacial surgery. We report two cases of hyperplastic gingival lesions treated by exeresis and application of leukocyte-platelet rich fibrin membranes in order to improve and accelerate tissue healing. Two patients (a 78-year-old Caucasian woman and a 30-year-old Caucasian man) were treated for hyperplastic gingival lesions. They underwent to exeresis of lesions and application of leukocyte-platelet rich fibrin membranes. Tissue healing was clinically evaluated after 1, 3, 7, 14 and 30 postoperative days. No recurrences were observed after 2 years of semi-annual follow up. We obtained rapid and good healing of soft tissues probably due to the elevated content of leukocytes, platelets and growth factors in the leukocyte-platelet rich fibrin. Based on our results we suggest the use of leukocyte-platelet rich fibrin to cover wounds after exeresis of oral neoformations such as hyperplastic gingival lesions.

  17. A comparative study of standard vs. high definition colonoscopy for adenoma and hyperplastic polyp detection with optimized withdrawal technique.

    Science.gov (United States)

    East, J E; Stavrindis, M; Thomas-Gibson, S; Guenther, T; Tekkis, P P; Saunders, B P

    2008-09-15

    Colonoscopy has a known miss rate for polyps and adenomas. High definition (HD) colonoscopes may allow detection of subtle mucosal change, potentially aiding detection of adenomas and hyperplastic polyps. To compare detection rates between HD and standard definition (SD) colonoscopy. Prospective, cohort study with optimized withdrawal technique (withdrawal time >6 min, antispasmodic, position changes, re-examining flexures and folds). One hundred and thirty patients attending for routine colonoscopy were examined with either SD (n = 72) or HD (n = 58) colonoscopes. Groups were well matched. Sixty per cent of patients had at least one adenoma detected with SD vs. 71% with HD, P = 0.20, relative risk (benefit) 1.32 (95% CI 0.85-2.04). Eighty-eight adenomas (mean +/- standard deviation 1.2 +/- 1.4) were detected using SD vs. 93 (1.6 +/- 1.5) with HD, P = 0.12; however more nonflat, diminutive (9 mm) hyperplastic polyps was 7% (0.09 +/- 0.36). High definition did not lead to a significant increase in adenoma or hyperplastic polyp detection, but may help where comprehensive lesion detection is paramount. High detection rates appear possible with either SD or HD, when using an optimized withdrawal technique.

  18. Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.

    Science.gov (United States)

    Payabvash, Seyedmehdi; Anderson, Jill S; Nascene, David R

    2015-12-01

    We report a case of a 7-week-old boy with bilateral leukocoria and asymmetric microphthalmia who was found to have Norrie disease. Symmetrically hyperdense globes with no evidence of calcification were seen on CT scan. The MRI showed bilateral retinal hemorrhages resulting in conical vitreous chambers-narrow at the optic disc and widened toward the lens-characteristic of persistent fetal vasculature. Genetic evaluation revealed a previously undescribed mutation in the Norrie disease protein gene. © The Author(s) 2015.

  19. Kekambuhan gingivitis hiperplasi setelah gingivektomi (Recurrent of hyperplastic gingivitis after gingivectomy

    Directory of Open Access Journals (Sweden)

    Iwan Ruhadi

    2005-09-01

    Full Text Available The inflammatory enlargement is clinically called hyperthropic gingivitis or gingival hyperplasia and generally related to local or systemic factors. They could be edematous or fibrous. The former is treated by scaling, but the latter that could not be treated by scaling only has to be removed by gingivectomy. There are some cases of gingivectomy resulting in recurrences. The writer wanted to find out the cause of the recurrences. The types of research were clinical and laboratories observational studies. The criteria of sample were: male or female patient who came to periodontal clinic of Faculty of Dentistry Airlangga University. They were diagnosed gingivitis hyperplasia; had no systemic diseases; did not wear the orthodontic appliances, prosthesis, and crown and bridge; do not smoke. The indicated teeth to be observed were the labial side of maxillary front teeth. The teeth had score hyperplastic index (HI = 2 at the 2nd weeks after scaling. There were 7 samples taken selectively. The results of the studies were based on the comparison of 1 hyperplasia index (HI; 2 the number and percentage of monosite and leucocytes from white blood impedance coutl (WIC and white blood optical coutl (WOC; 3 plaque Index; and 4 gingival index. The result of gingivectomy was reevaluated on the 30th, 45th, 60th, 90th day. The research concluded that the number of monosite was normal, but the dental plaque still accumulated and eventually caused the recurrences of the inflammation.

  20. EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis

    International Nuclear Information System (INIS)

    Kokko, Antti; Tomlinson, Ian PM; Vahteristo, Pia; Aaltonen, Lauri A; Laiho, Päivi; Lehtonen, Rainer; Korja, Sanna; Carvajal-Carmona, Luis G; Järvinen, Heikki; Mecklin, Jukka-Pekka; Eng, Charis; Schleutker, Johanna

    2006-01-01

    Ephrin receptor B2 (EPHB2) has recently been proposed as a novel tumor suppressor gene in colorectal cancer (CRC). Inactivation of the gene has been shown to correlate with progression of colorectal tumorigenesis, and somatic mutations have been reported in both colorectal and prostate tumors. Here we have analyzed the EPHB2 gene for germline alterations in 101 individuals either with 1) CRC and a personal or family history of prostate cancer (PC), or 2) intestinal hyperplastic polyposis (HPP), a condition associated with malignant degeneration such as serrated adenoma and CRC. Four previously unknown missense alterations were observed, which may be associated with the disease phenotype. Two of the changes, I361V and R568W, were identified in Finnish CRC patients, but not in over 300 Finnish familial CRC or PC patients or more than 200 population-matched healthy controls. The third change, D861N, was observed in a UK HPP patient, but not in additional 40 UK HPP patients or in 200 UK healthy controls. The fourth change R80H, originally identified in a Finnish CRC patient, was also found in 1/106 familial CRC patients and in 9/281 healthy controls and is likely to be a neutral polymorphism. We detected novel germline EPHB2 alterations in patients with colorectal tumors. The results suggest a limited role for these EPHB2 variants in colon tumor predisposition. Further studies including functional analyses are needed to confirm this

  1. T1 value of hyperplastic and hypoplastic bone marrow. Preliminary report

    Energy Technology Data Exchange (ETDEWEB)

    Asai, Sae; Yoshida, Hideo; Yoshikawa, Hiroki; Yashiro, Naofumi; Iio, Masahiro; Takaku, Fumimaro

    1985-03-01

    Magnetic resonance (MR) images of the bone marrow of 18 patients (11 normal control, 4 aplastic anemia, 2 chronic myelocytic leukemia, 1 polycythemia vera) were discussed. MR imager had 0.15T registive system. Sagittal section of the body was obtained with inversion recovery (TR1,000, 1,600/TI 350, 450/TE 13, 40 msec) and saturation recovery (TR 1,000, 2,000/TE 13,40 msec) sequences. T1 relaxation time was calculated from those images. T1 value of the thoracic and lumbar vertebral bone marrow which contains red marrow even in elderly patients was measured. T1 values of chronic myelocytic leukemia (CML) and polycythemia vera were longer than that of normal. T1 values of four aplastic anemia were all shorter than normal. CML and polycythemia vera can be called myeloproliferative disease and their bone marrows are hyperplastic, which may explain elongated T1. The bone marrow of aplasticanemia is hypoplastic and shows fatty change which may have decreased T1. Our results suggest T1 value of bone marrow is useful to evaluate hematological disorders. (author).

  2. Bacterial persistence

    Indian Academy of Sciences (India)

    PRAKASH KUMAR

    Drug indifference versus persistence. Studies on the mode of ... is a special case of drug indifference, restricted to a small ... to his model (outlined in detail in Lewis 2008), treatment .... belong to the heat and cold shock response family; many.

  3. [Persistent diarrhea

    Science.gov (United States)

    Andrade, J A; Moreira, C; Fagundes Neto, U

    2000-07-01

    INTRODUCTION: Persistent diarrhea has high impact on infantile morbidity and mortality rates in developing countries. Several studies have shown that 3 to 20% of acute diarrheal episodes in children under 5 years of age become persistent. DEFINITION: Persistent diarrhea is defined as an episode that lasts more than 14 days. ETIOLOGY: The most important agents isolated in persistent diarrhea are: Enteropathogenic E. coli (EPEC), Salmonella, Enteroaggregative E. coli (EAEC), Klebisiella and Cryptosporidium. CLINICAL ASPECTS: In general, the clinical characteristics of patients with persistent diarrhea do not change with the pathogenic agent. Persistent diarrhea seems to represent the final result of a several insults a infant suffers that predisposes to a more severe episode of diarrhea due to a combination of host factors and high rates of enviromental contamination. Therefore, efforts should be made to promptly treat all episodes of diarrhea with apropriate follow-up. THERAPY: The aim of the treatment is to restore hydroelectrolytic deficits and to replace losses until the diarrheal ceases. It is possible in the majority of the cases, using oral rehydration therapy and erly an appropriate type of diet. PREVENTION: It is imperative that management strategies also focus on preventive aspects. The most effective diarrheal prevention strategy in young infants worldwide is promotion of exclusive breast feeding.

  4. Reoperation for persistent or recurrent secondary hyperparathyroidism.

    Science.gov (United States)

    Abruzzo, Alida; Gioviale, Maria Concetta; Damiano, Giuseppe; Palumbo, Vincenzo Davide; Buscemi, Salvatore; Lo Monte, Giulia; Gulotta, Leonardo; Buscemi, Giuseppe; Lo Monte, Attilio Ignazio

    2017-10-23

    Secondary hyperparathyroidism is a common acquired disorder seen in chronic renal failure. Its pathophysiology is mainly due to hyperphosphatemia and vitamin D deficiency and resistance. When medical treatment fails, subtotal and total parathyroidectomy with autotransplantation are the standard procedures, although both are associated with high recurrence rates. 4 patients experienced persistence and 9 relapse. The first 4 were subjected to reoperation after 6 months for the persistence of symptoms due to the finding of a supernumerary adenomatous gland while the remaining patients at the reoperation showed in 5 cases 2 more glands in over thymic position, and 4 an hyperplasia of the residual glandular tissue. A classic cervicotomy was sufficient to remove the residual parathyroid in patients with persistent hyperparathyroidism. For cases of recurrent hyperparathyroidism it was enough a medial approach and sometimes lateral for the complete excision of the hyperplastic tissue. The advent of the intraoperative technique of parathyroid hormone dosage allowed a better performance of the surgical technique for the last 3 patients undergoing reoperation. After reoperation all patients had immediate regression of clinical symptoms with normalization of serum calcium and PTH levels. On the basis of these considerations, diagnostic imaging has a not negligible role because during the first intervention helps to have an idea of the possible location of the glands and thus to avoid the risk of recurrence and relapse due to ectopic or supernumerary tissue.

  5. «Implantation window» disturbance in patients with hyperplastic processes of endometrium

    Directory of Open Access Journals (Sweden)

    O. I. Parnytska

    2013-12-01

    Full Text Available Introduction There is an increasing interest in the role of hyperplastic processes of endometrium in the “implantation window” disturbance and unsuccessful implantation rate. The endometrium represents a barrier to implantation except under appropriate and defined hormonal conditions. There is no doubt that endometrium has an important role for embryo implantation at early stages of development. Successful implantation requires a functionally normal embryo at the blastocyst stage and receptive endometrium, while the communication between them is also vital. Endometrium shows dynamic and cyclic morphological changes throughout the follicular phase and in the secretory phase. The progesterone-driven differentiative changes in the endometrial epithelium lead to the ‘opening’ of the “window of receptivity” for blastocyst implantation. Morphologically, progesterone-dependent apical cellular protrusions known as pinopods (uterodomes become visible by scanning electron microscopy on 20th–21st days of human menstrual cycle and then are lost. Materials and methods A total of 180 endometrial specimens from women with simple hyperplasia (I gr., endometrial polyps (II gr. and asynchronous endometrium (III gr. have been examined by scanning electron microscopy. Biopsies were obtained from fundus of the uterus and processed for light and scanning electron microscopy. Tissues for light microscopy were fixed in 1,25% glutardialdehyde, embedded in paraffin, sectioned and stained with hematoxylin and eosin. Results In I group with simple hyperplasia the ratio of glands and stroma is now increased. Most or all of the endometrial glands are more or less cystically dilated and lined by pseudostratified, highly proliferating epithelium with enlarged, elongated, nuclei in scanty, basophilic cytoplasm. Mitoses are frequent in the epithelium. II group shows endometrial polyps with proliferation of stromal cells incorporating a non-neoplastic glandular

  6. High-Dose-Rate Endobronchial Brachytherapy for Recurrent Airway Obstruction From Hyperplastic Granulation Tissue

    International Nuclear Information System (INIS)

    Tendulkar, Rahul D.; Fleming, Peter A.; Reddy, Chandana A.; Gildea, Thomas R.; Machuzak, Michael; Mehta, Atul C.

    2008-01-01

    Purpose: Benign endobronchial granulation tissue causes airway obstruction in up to 20% of patients after lung transplantation or stent placement. High-dose-rate endobronchial brachytherapy (HDR-EB) has been successful in some cases refractory to standard bronchoscopic interventions. Methods and Materials: Between September 2004 and May 2005, 8 patients with refractory benign airway obstruction were treated with HDR-EB, using one to two fractions of Ir-192 prescribed to 7.1 Gy at a radius of 1 cm. Charts were retrospectively reviewed to evaluate subjective clinical response, forced expiratory volume in 1 second (FEV 1 ), and frequency of therapeutic bronchoscopies over 6-month periods before and after HDR-EB. Results: The median follow-up was 14.6 months, and median survival was 10.5 months. The mean number of bronchoscopic interventions improved from 3.1 procedures in the 6-month pretreatment period to 1.8 after HDR-EB. Mean FEV 1 improved from 36% predicted to 46% predicted. Six patients had a good-to-excellent subjective early response, but only one maintained this response beyond 6 months, and this was the only patient treated with HDR-EB within 24 h from the most recent bronchoscopic intervention. Five patients have expired from causes related to their chronic pulmonary disease, including one from hemoptysis resulting from a bronchoarterial fistula. Conclusion: High-dose-rate-EB may be an effective treatment for select patients with refractory hyperplastic granulation tissue causing recurrent airway stenosis. Performing HDR-EB within 24-48 h after excision of obstructive granulation tissue could further improve outcomes. Careful patient selection is important to maximize therapeutic benefit and minimize toxicity. The optimal patient population, dose, and timing of HDR-EB should be investigated prospectively

  7. Prevalence of Candida spp. in Healthy Oral Mucosa Surfaces with Higher Incidence of Chronic Hyperplastic Candidosis.

    Science.gov (United States)

    Arruda, Claúdia; Artico, Gabriela; Freitas, Roseli; Filho, Antônio; Migliari, Dante

    2016-08-01

    Predisposing factors in chronic hyperplastic candidosis (CHC) have been poorly recognized. This study aimed at assessing the prevalence of Candida spp. in areas of the oral mucosa showing greater prevalent rate of CHC, such as the retrocomissural area, the lateral borders of the tongue, and the hard-palate mucosa in four groups of individuals presenting predisposing factors as follows: Smoking habits (group I); patients with low salivary flow rate (SFR) (hyposalivation - group II); patients with loss of vertical dimension of occlusion (LVDO -group III); and control subjects (group IV). A total of 44 individuals (age 4090 years, mean: 55.8 years) were divided into four groups: Group I (11 smokers); group II (10 hyposalivation patients); group III (10 LVDO patients); and group IV (control, 13 healthy subjects). All individuals were tested for Candida-pseudohyphae form by direct examination and for Candida spp. culture growth in samples obtained from the retrocomissural, tongue's lateral border, and hard-soft palatal mucosa. Direct examination showed a statistically significant prevalence rate for pseudohyphae (p < 0.05) on the retrocomissural and on tongue's lateral borders of individuals with LVDO. A statistically significant (p < 0.05) culture growth for Candida spp. was found on the retrocomissural areas of those with hyposalivation and with LVDO, and on the palate mucosa and on the tongue's lateral borders in the smokers and in the individuals with LVDO when compared with those of the control group. While direct examination is effective for detecting pseudohyphae, LVDO and tobacco smoking seem to be factors of relevance to the development of CHC. Since CHC has been linked to a high rate of malignant transformation, this study analyzes some clinical (and exogenous) factors that may contribute to the development of CHC and addresses some preventive measures to reduce its incidence.

  8. FRA-1 protein overexpression is a feature of hyperplastic and neoplastic breast disorders

    International Nuclear Information System (INIS)

    Chiappetta, Gennaro; Pierantoni, Giovanna Maria; Fusco, Alfredo; Ferraro, Angelo; Botti, Gerardo; Monaco, Mario; Pasquinelli, Rosa; Vuttariello, Emilia; Arnaldi, Liliane; Di Bonito, Maurizio; D'Aiuto, Giuseppe

    2007-01-01

    Fos-related antigen 1 (FRA-1) is an immediate early gene encoding a member of AP-1 family of transcription factors involved in cell proliferation, differentiation, apoptosis, and other biological processes. fra-1 gene overexpression has an important role in the process of cellular transformation, and our previous studies suggest FRA-1 protein detection as a useful tool for the diagnosis of thyroid neoplasias. Here we investigate the expression of the FRA-1 protein in benign and malignant breast tissues by immunohistochemistry, Western blot, RT-PCR and qPCR analysis, to evaluate its possible help in the diagnosis and prognosis of breast neoplastic diseases. We investigate the expression of the FRA-1 protein in 70 breast carcinomas and 30 benign breast diseases by immunohistochemistry, Western blot, RT-PCR and qPCR analysis. FRA-1 protein was present in all of the carcinoma samples with an intense staining in the nucleus. Positive staining was also found in most of fibroadenomas, but in this case the staining was present both in the nucleus and cytoplasm, and the number of positive cells was lower than in carcinomas. Similar results were obtained from the analysis of breast hyperplasias, with no differences in FRA-1 expression level between typical and atypical breast lesions; however the FRA-1 protein localization is mainly nuclear in the atypical hyperplasias. In situ breast carcinomas showed a pattern of FRA-1 protein expression very similar to that observed in atypical hyperplasias. Conversely, no FRA-1 protein was detectable in 6 normal breast tissue samples used as controls. RT-PCR and qPCR analysis confirmed these results. Similar results were obtained analysing FRA-1 expression in fine needle aspiration biopsy (FNAB) samples. The data shown here suggest that FRA-1 expression, including its intracellular localization, may be considered a useful marker for hyperplastic and neoplastic proliferative breast disorders

  9. Persistent angina

    DEFF Research Database (Denmark)

    Jespersen, L.; Abildstrom, S. Z.; Hvelplund, Anders

    2013-01-01

    To evaluate persistent angina in stable angina pectoris with no obstructive coronary artery disease (CAD) compared to obstructive CAD and its relation to long-term anxiety, depression, quality of life (QOL), and physical functioning. We invited 357 patients (men = 191; women = 166; response rate 83......-obstructive CAD or normal coronary arteries than in patients with obstructive CAD. Persistent angina symptoms were associated with long-term anxiety, depression, impaired physical functioning, and QOL irrespective of the degree of CAD. Contrary to common perception, excluding obstructive CAD in stable angina does...... %) with no prior cardiovascular disease who had a first-time coronary angiography (CAG) in 2008-2009 due to suspected stable angina to participate in a questionnaire survey in 2011 with the Seattle Angina Questionnaire and the Hospital Anxiety and Depression Scale as key elements. Long-term persistent angina (i...

  10. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

    Science.gov (United States)

    Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L; Schorderet, Daniel F

    2014-08-01

    Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations in ALDH1A3 occurred in six families. Based on this series, we estimate that mutations in ALDH1A3 represent a major cause of A/M in consanguineous families, and may be responsible for approximately 10% of the cases. Screening of this gene should be performed in a first line of investigation, together with SOX2. © 2014 WILEY PERIODICALS, INC.

  11. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

    Science.gov (United States)

    Deml, B; Reis, L M; Maheshwari, M; Griffis, C; Bick, D; Semina, E V

    2014-11-01

    Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogenous disorder with numerous causative genes identified; however, about half the cases lack a molecular diagnosis. We undertook whole exome sequencing in an A/M family with two affected siblings, two unaffected siblings, and unaffected parents; the ocular phenotype was isolated with only mild developmental delay/learning difficulties reported and a normal brain magnetic resonance imaging (MRI) in the proband at 16 months. No pathogenic mutations were identified in 71 known A/M genes. Further analysis identified a shared heterozygous mutation in COL4A1, c.2317G>A, p.(Gly773Arg) that was not seen in the unaffected parents and siblings. Analysis of 24 unrelated A/M exomes identified a novel c.2122G>A, p.(Gly708Arg) mutation in an additional patient with unilateral microphthalmia, bilateral microcornea and Peters anomaly; the mutation was absent in the unaffected mother and the unaffected father was not available. Mutations in COL4A1 have been linked to a spectrum of human disorders; the most consistent feature is cerebrovascular disease with variable ocular anomalies, kidney and muscle defects. This study expands the spectrum of COL4A1 phenotypes and indicates screening in patients with A/M regardless of MRI findings or presumed inheritance pattern. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. Habit persistence

    DEFF Research Database (Denmark)

    Vinther Møller, Stig

    2009-01-01

    This paper uses an iterated GMM approach to estimate and test the consumption based habit persistence model of Campbell and Cochrane (1999) on the US stock market. The empirical evidence shows that the model is able to explain the size premium, but fails to explain the value premium. Further...

  13. Radiation therapy of hyperplastic heterotopic ossifications in osteogenesis imperfecta; Two case reports. Strahlentherapie hyperplastischer heterotoper Ossifikationen bei Osteogenesis imperfecta; Zwei Falldarstellungen

    Energy Technology Data Exchange (ETDEWEB)

    Micke, O. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Strahlentherapie - Radioonkologie); Wagner, W. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Strahlentherapie - Radioonkologie); Poetter, R. (Allgemeines Krankenhaus der Stadt Wien, Vienna (Austria). Universitaetsklinik fuer Strahlentherapie und Strahlenbiologie); Prott, F.J. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Strahlentherapie - Radioonkologie); Karbowski, A. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Allgemeine Orthopaedie)

    1994-06-01

    Purpose: Osteogenesis imperfecta is a rare hereditary disease of connective tissue with a genetic defect in collagen synthesis. In osteogenesis imperfecta hyperplastic heterotopic ossification can be induced by hyperplastic callus formation caused by trauma or operation. Heterotopic ossifications can be found in numerous benign diseases. The successful use of low dose radiotherapy in the treatment of heterotopic ossifications in well-known from the literature. Patients and Methods: We treated two children (a 13-year old girl and a ten-year old boy) with heterotopic ossifications of the lower extremities in osteogenesis imperfecta type IV (Lobstein) with a low dose irradiation (10x1 Gy, respectively 6x1 Gy) under megavoltage conditions. Results: After radiotherapy the children were painfree and the hyperplastic callus was considerably reduced. The previously immobilized patients could partly be mobilized. Thereby it could be contributed to the rehabilitation of the patients. New hyperplastic callus formation was not observed in the irradiated areas so far. Conclusion: Analogous to the successful radiation of heterotopic ossifications in other benign diseases radiation therapy seems to be a successful treatment of hyperplastic callus formation in osteogenesis imperfecta. Despite the late risks of radiotherapy radiation treatment of benign diseases in children might be indicated. (orig.)

  14. Hyperplastic Processes of the Thyroid Gland in Type 2 Diabetic Patients Who Suffered from the Chornobyl Disaster

    Directory of Open Access Journals (Sweden)

    I.M. Muraviova

    2016-02-01

    Full Text Available To study the clinical correlations between diabetes mellitus (DM type 2 and hyperplastic processes of the thyroid gland (TG, we conducted a survey of the participants of Chernobyl accident consequences elimination — 125 men aged 61.95 ± 0.66 years and 24 women aged 62.13 ± 1.34 years (group I, evacuees — 6 men aged 56.00 ± 6.45 years and 18 women aged 58.56 ± 2.07 years (group II, residents of contaminated territories — 32 men aged 59.69 ± 2.13 years and 67 women aged 58.39 ± 1.23 years (group III. The control group consisted of Kyiv residents — 18 men aged 59.00 ± 2.45 years and 34 women aged 57.88 ± 2.61 years diagnosed with DM type 2 and pathology of the TG. Results. The incidence of hyperplastic processes of the TG in patients with DM type 2, who suffered from the disaster, was higher among women (79.2 % than among men — 45.6 % (χ2 = 9.078; p = 0.003, similarly to the group control — 55.9 and 16.7 %, respectively (χ2 = 7.415; p = 0.007, it was significantly higher among male victims of the accident than in the control group (χ2 = 5.41; p = 0.02. We had established a strong direct correlation between the level of thyroid stimulating hormone (TSH and body mass index (BMI (r = 0.799; p = 0.031, glycated hemoglobin (r = 0.999; p = 0.027 among men in the control group. During multivariate analysis, we have found the probable model of the duration of DM type 2 and development of hyperplastic processes in the TG (F = 6.6947; p = 0.00022 and its absence for other indicators, namely: BMI (F = 1.7351; p = 0.15969, TSH (F = 0.29968; p = 0.82559, the C-peptide (F = 0.09665; p = 0.96160 and glycated hemoglobin (F = 0.17955; p = 0.90996. Conclusions. In patients with DM type 2, who suffered from the Chornobyl disaster, the incidence of hyperplastic processes in the TG statistically significantly exceeds the rate in unirradiated individuals and depends on the gender, duration of the underlying disease and its decompensation.

  15. Features of integrated ultrasound research of the orbit in the evaluation of the forecast results of prosthetics in subatrophy and microphthalmia

    Directory of Open Access Journals (Sweden)

    E. N. Verigo

    2014-07-01

    Full Text Available A comprehensive echographic study of the orbit using an immersion environment, including high-gray-scale scanning, echo densitometry, volumetric ultrasound scan and color Doppler mapping in 19 patients with post-traumatic subatrophy and 7 patients with congenital microphthalmia. Found that low rates of eye prosthesis in anophthalmia in the late periods is due to insufficient volume of the musculoskeletal stump; if in the orbit exist a reduced in size eye (anteroposterior axis of 10.0 mm or more, the using of prosthesis does not develop deformation of the facial skeleton; the visualization of bloodstream in the great vessels at 2nd — 3rd stages ofsubatrophy and microphthalmia testifies the preservation of blood supply of the structures of the eye and orbit, presence of trophic.

  16. Features of integrated ultrasound research of the orbit in the evaluation of the forecast results of prosthetics in subatrophy and microphthalmia

    Directory of Open Access Journals (Sweden)

    E. N. Verigo

    2012-01-01

    Full Text Available A comprehensive echographic study of the orbit using an immersion environment, including high-gray-scale scanning, echo densitometry, volumetric ultrasound scan and color Doppler mapping in 19 patients with post-traumatic subatrophy and 7 patients with congenital microphthalmia. Found that low rates of eye prosthesis in anophthalmia in the late periods is due to insufficient volume of the musculoskeletal stump; if in the orbit exist a reduced in size eye (anteroposterior axis of 10.0 mm or more, the using of prosthesis does not develop deformation of the facial skeleton; the visualization of bloodstream in the great vessels at 2nd — 3rd stages ofsubatrophy and microphthalmia testifies the preservation of blood supply of the structures of the eye and orbit, presence of trophic.

  17. Langerhans cell homeostasis and activation is altered in hyperplastic human papillomavirus type 16 E7 expressing epidermis.

    Directory of Open Access Journals (Sweden)

    Nor Malia Abd Warif

    Full Text Available It has previously been shown that expression of human papillomavirus type 16 (HPV E7 in epidermis causes hyperplasia and chronic inflammation, characteristics of pre-malignant lesions. Importantly, E7-expressing epidermis is strongly immune suppressed and is not rejected when transplanted onto immune competent mice. Professional antigen presenting cells are considered essential for initiation of the adaptive immune response that results in graft rejection. Langerhans cells (LC are the only antigen presenting cells located in normal epidermis and altered phenotype and function of these cells may contribute to the immune suppressive microenvironment. Here, we show that LC are atypically activated as a direct result of E7 expression in the epidermis, and independent of the presence of lymphocytes. The number of LC was significantly increased and the LC are functionally impaired, both in migration and in antigen uptake. However when the LC were extracted from K14E7 skin and matured in vitro they were functionally competent to present and cross-present antigen, and to activate T cells. The ability of the LC to present and cross-present antigen following maturation supports retention of full functional capacity when removed from the hyperplastic skin microenvironment. As such, opportunities are afforded for the development of therapies to restore normal LC function in hyperplastic skin.

  18. Persistent Modelling

    DEFF Research Database (Denmark)

    2012-01-01

    The relationship between representation and the represented is examined here through the notion of persistent modelling. This notion is not novel to the activity of architectural design if it is considered as describing a continued active and iterative engagement with design concerns – an evident....... It also provides critical insight into the use of contemporary modelling tools and methods, together with an examination of the implications their use has within the territories of architectural design, realisation and experience....... on this subject, this book makes essential reading for anyone considering new ways of thinking about architecture. In drawing upon both historical and contemporary perspectives this book provides evidence of the ways in which relations between representation and the represented continue to be reconsidered...

  19. Persistent Modelling

    DEFF Research Database (Denmark)

    The relationship between representation and the represented is examined here through the notion of persistent modelling. This notion is not novel to the activity of architectural design if it is considered as describing a continued active and iterative engagement with design concerns – an evident....... It also provides critical insight into the use of contemporary modelling tools and methods, together with an examination of the implications their use has within the territories of architectural design, realisation and experience....... on this subject, this book makes essential reading for anyone considering new ways of thinking about architecture. In drawing upon both historical and contemporary perspectives this book provides evidence of the ways in which relations between representation and the represented continue to be reconsidered...

  20. Autoradiographic investigation of proliferative processes of the gastric mucosa of patients suffering from chronic atrophic gastritis, hyperplastic mucous polypi or ulcus ventriculi

    International Nuclear Information System (INIS)

    Steenbeck, L.; Guetz, H.J.; Wildner, G.P.

    1982-01-01

    A series of pathological changes of the gastric mucosa such as ulcers hyperplastic polypi and intestinal metaplasias are accompanied with an increased 3 H-thymidine incorporation into the mucosa. This disorder of the regulation of DNA synthesis is important as to the diagnosis of stomach cancer, but it is unsuitable as screening test in early recognition

  1. Induction of Severe Chronic Hyperplastic Candidiasis in Rat by Opportunistic Infection of C. albicans through Combination of Diabetes and Intermittent Prednisolone Administration.

    Science.gov (United States)

    Terayama, Yui; Matsuura, Tetsuro; Ozaki, Kiyokazu

    2017-08-01

    Chronic hyperplastic candidiasis progresses from squamous cell hyperplasia to squamous cell carcinoma (SCC); however, the oncogenic mechanism remains unclear. In the present study, we attempted to induce opportunistic Candida albicans infection and establish chronic hyperplastic candidiasis in rats by combining diabetic condition and prednisolone administration, followed by analysis of the inflammatory cells involved in the disease progression. Female Wistar Bunn/Kobori (WBN/Kob) rats were divided into 3 groups: alloxan-induced diabetic rats (A group) along with diabetic (AP group) and nondiabetic (P group) rats intermittently treated with prednisolone. Animals were euthanized at 42 weeks of age. Squamous cell hyperplasia following C. albicans infection in the forestomach was observed in almost all AP and A group rats. The lesions in the AP group were significantly more severe than those in the A group. In addition, SCC was detected in 1 AP group animal. Cluster of differentiation (CD)4-positive T cell and CD68-positive macrophage infiltration in the AP group was significantly stronger than that in the A group. These findings suggest that the combination of diabetes and intermittent prednisolone administration could induce chronic hyperplastic candidiasis without direct C. albicans inoculation and that CD4-positive T cells and CD68-positive macrophages may be highly involved in the pathogenesis of these hyperplastic lesions.

  2. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.

    Science.gov (United States)

    Casey, Jillian; Kawaguchi, Riki; Morrissey, Maria; Sun, Hui; McGettigan, Paul; Nielsen, Jens E; Conroy, Judith; Regan, Regina; Kenny, Elaine; Cormican, Paul; Morris, Derek W; Tormey, Peter; Chróinín, Muireann Ní; Kennedy, Breandan N; Lynch, SallyAnn; Green, Andrew; Ennis, Sean

    2011-12-01

    Microphthalmia, anophthalmia, and coloboma (MAC) are structural congenital eye malformations that cause a significant proportion of childhood visual impairments. Several disease genes have been identified but do not account for all MAC cases, suggesting that additional risk loci exist. We used single nucleotide polymorphism (SNP) homozygosity mapping (HM) and targeted next-generation sequencing to identify the causative mutation for autosomal recessive isolated colobomatous microanophthalmia (MCOPCB) in a consanguineous Irish Traveller family. We identified a double-nucleotide polymorphism (g.1157G>A and g.1156G>A; p.G304K) in STRA6 that was homozygous in all of the MCOPCB patients. The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9). STRA6 encodes a transmembrane receptor involved in vitamin A uptake, a process essential to eye development and growth. We have shown that the G304K mutant STRA6 protein is mislocalized and has severely reduced vitamin A uptake activity. Furthermore, we reproduced the MCOPCB phenotype in a zebrafish disease model by inhibiting retinoic acid (RA) synthesis, suggesting that diminished RA levels account for the eye malformations in STRA6 p.G304K patients. The current study demonstrates that STRA6 mutations can cause isolated eye malformations in addition to the congenital anomalies observed in MWS. © 2011 Wiley Periodicals, Inc.

  3. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

    Science.gov (United States)

    Gerth-Kahlert, Christina; Williamson, Kathleen; Ansari, Morad; Rainger, Jacqueline K; Hingst, Volker; Zimmermann, Theodor; Tech, Stefani; Guthoff, Rudolf F; van Heyningen, Veronica; FitzPatrick, David R

    2013-01-01

    Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations – anophthalmia and/or severe microphthalmia – seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2, OTX2, PAX6 (paired domain), STRA6, BMP4, SMOC1, FOXE3, and RAX, and genome-wide array-based copy number assessment. Fifteen (29.4%) of the 51 probands had likely causative mutations affecting SOX2 (9/51), OTX2 (5/51), and STRA6 (1/51). Of the cases with bilateral anophthalmia, 9/12 (75%) were found to be mutation positive. Three of these mutations were large genomic deletions encompassing SOX2 (one case) or OTX2 (two cases). Familial inheritance of three intragenic, plausibly pathogenic, and heterozygous mutations was observed. An unaffected carrier parent of an affected child with an identified OTX2 mutation confirmed the previously reported nonpenetrance for this disorder. Two families with SOX2 mutations demonstrated a parent and child both with significant but highly variable eye malformations. Heterozygous loss-of-function mutations in SOX2 and OTX2 are the most common genetic pathology associated with severe eye malformations and bi-allelic loss-of-function in STRA6 is confirmed as an emerging cause of nonsyndromal eye malformations. PMID:24498598

  4. Melanogenesis-Inducing Effect of Cirsimaritin through Increases in Microphthalmia-Associated Transcription Factor and Tyrosinase Expression

    Directory of Open Access Journals (Sweden)

    Hyo Jung Kim

    2015-04-01

    Full Text Available The melanin-inducing properties of cirsimaritin were investigated in murine B16F10 cells. Cirsimaritin is an active flavone with methoxy groups, which is isolated from the branches of Lithocarpus dealbatus. Tyrosinase activity and melanin content in murine B16F10 melanoma cells were increased by cirsimaritin in a dose-dependent manner. Western blot analysis revealed that tyrosinase, tyrosinase-related protein (TRP 1, TRP2 protein levels were enhanced after treatment with cirsimaritin for 48 h. Cirsimaritin also upregulated the expression of microphthalmia-associated transcription factor (MITF after 24 h of treatment. Furthermore, cirsimaritin induced phosphorylation of cyclic adenosine monophosphate (cAMP response element-binding protein (CREB in a dose-dependent manner after treatment for 15 min. The cirsimaritin-mediated increase of tyrosinase activity was significantly attenuated by H89, a cAMP-dependent protein kinase A inhibitor. These findings indicate that cirsimaritin stimulates melanogenesis in B16F10 cells by activation of CREB as well as upregulation of MITF and tyrosinase expression, which was activated by cAMP signaling. Finally, the melanogenic effect of cirsimaritin was confirmed in human epidermal melanocytes. These results support the putative application of cirsimaritin in ultraviolet photoprotection and hair coloration treatments.

  5. Expression of microphthalmia transcription factor, S100 protein, and HMB-45 in malignant melanoma and pigmented nevi.

    Science.gov (United States)

    Xia, Jianxin; Wang, Yanlong; Li, Fuqiu; Wang, Jinfeng; Mu, Yan; Mei, Xianglin; Li, Xue; Zhu, Wenjing; Jin, Xianhua; Yu, Kai

    2016-09-01

    Malignant melanoma (MM) is a type of malignant tumor, which originates from neural crest melanocytes. MM progresses rapidly and results in a high mortality rate. The present study aims to investigate the expression of microphthalmia transcription factor (MITF), the S100 protein, and HMB-45 in MM and pigmented nevi. A total of 32 MM samples (including three skin metastasis, three lymph node metastasis and two spindle cell MM samples), two Spitz nevus samples, four pigmented nevus samples and two blue nevus samples were collected. The expression levels of S100 protein, HMB-45, and MITF were observed via immunostaining. The S100 protein exhibited high positive rates in MM and pigment disorders (96.7 and 100%, respectively), but with low specificity. The S100 protein was also expressed in fibroblasts, myoepithelial cells, histocytes and Langerhans cells in normal skin samples. HMB-45 had high specificity. Its positive expression was only confined to MM cells and junctional nevus cells. Furthermore, HMB-45 was not expressed in melanocytes in the normal tissue samples around the tumor or in the benign intradermal nevus cells. MITF exhibited high specificity and high sensitivity. It was expressed in the nuclei of melanocytes, MM cells and nevus cells. It was observed to be strongly expressed in metastatic MM and spindle cell MMs. Thus, MITF may present as a specific immunomarker for the diagnosis and differential diagnosis of MM.

  6. Vital Pulp Therapy of a Mature Molar with Concurrent Hyperplastic Pulpitis, Internal Root Resorption and Periradicular Periodontitis: A Case Report.

    Science.gov (United States)

    Asgary, Saeed; Kemal Çalışkan, Mehmet

    2015-01-01

    Vital pulp therapy (VPT) of permanent mature teeth is continuously ascertaining to be a more reliable endodontic treatment. The purpose of this case report was to describe successful VPT of a mature mandibular left first molar with concurrent hyperplastic pulpitis, internal root resorption and periradicular periodontitis in a 35-year-old male patient. After complete caries removal and access cavity preparation, the dental pulp was removed from the coronal third of the roots. To protect the remaining pulp, calcium-enriched mixture (CEM) cement was placed and adapted into the cavities; the tooth was then restored with amalgam. Six months after VPT, radiographic examination showed evidence of periradicular healing. Clinically, the tooth was functional without signs and symptoms of infection/inflammation. The successful outcome of this case suggests that diseased dental pulp (i.e. irreversible pulpitis) has the potential to heal after pulp protection with CEM biocement.

  7. Vital Pulp Therapy of a Mature Molar with Concurrent Hyperplastic Pulpitis, Internal Root Resorption and Periradicular Periodontitis: A Case Report

    Science.gov (United States)

    Asgary, Saeed; Kemal Çalışkan, Mehmet

    2015-01-01

    Vital pulp therapy (VPT) of permanent mature teeth is continuously ascertaining to be a more reliable endodontic treatment. The purpose of this case report was to describe successful VPT of a mature mandibular left first molar with concurrent hyperplastic pulpitis, internal root resorption and periradicular periodontitis in a 35-year-old male patient. After complete caries removal and access cavity preparation, the dental pulp was removed from the coronal third of the roots. To protect the remaining pulp, calcium-enriched mixture (CEM) cement was placed and adapted into the cavities; the tooth was then restored with amalgam. Six months after VPT, radiographic examination showed evidence of periradicular healing. Clinically, the tooth was functional without signs and symptoms of infection/inflammation. The successful outcome of this case suggests that diseased dental pulp (i.e. irreversible pulpitis) has the potential to heal after pulp protection with CEM biocement. PMID:26523145

  8. Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years

    Energy Technology Data Exchange (ETDEWEB)

    Cheung, Moira S.; Azouz, E.M.; Glorieux, Francis H. [Shriners Hospital for Children and McGill University, Genetics Unit, Montreal, Quebec (Canada); Rauch, Frank [Shriners Hospital for Children and McGill University, Genetics Unit, Montreal, Quebec (Canada); Shriners Hospital for Children, Genetics Unit, Montreal, Quebec (Canada)

    2008-05-15

    Hyperplastic callus (HPC) formation is a prominent feature of osteogenesis imperfecta (OI) type V; however, little is known about its long-term outcome. In this case report we describe the occurrence, appearance and course of a femoral HPC in a patient with OI type V during 10 years of follow-up. Radiographs of HPC in this child were compared and contrasted with HPC formation in the femur of his father and paternal grandfather, who also were affected with OI type V. This case report makes it clear that HPC can lead to significant morbidity, not only in the acute phase but also long term as a result of residual alteration in bone architecture. (orig.)

  9. Hyperplastic callus formation in osteogenesis imperfecta type V: follow-up of three generations over ten years

    International Nuclear Information System (INIS)

    Cheung, Moira S.; Azouz, E.M.; Glorieux, Francis H.; Rauch, Frank

    2008-01-01

    Hyperplastic callus (HPC) formation is a prominent feature of osteogenesis imperfecta (OI) type V; however, little is known about its long-term outcome. In this case report we describe the occurrence, appearance and course of a femoral HPC in a patient with OI type V during 10 years of follow-up. Radiographs of HPC in this child were compared and contrasted with HPC formation in the femur of his father and paternal grandfather, who also were affected with OI type V. This case report makes it clear that HPC can lead to significant morbidity, not only in the acute phase but also long term as a result of residual alteration in bone architecture. (orig.)

  10. Molecular features of colorectal hyperplastic polyps and sessile serrated adenoma/polyps from Korea.

    Science.gov (United States)

    Kim, Kyoung-Mee; Lee, Eui Jin; Ha, Sangyun; Kang, So Young; Jang, Kee-Taek; Park, Cheol Keun; Kim, Jin Yong; Kim, Young Ho; Chang, Dong Kyung; Odze, Robert Daniel

    2011-09-01

    Abundant recent data suggest that sessile serrated adenoma/polyp (SSA/P) is an early precursor lesion in the serrated pathway of carcinogenesis. It is believed that SSA/Ps develop cancer by an SSA/P-dysplasia-carcinoma sequence. Hyperplastic polyps (HPs) share some histologic and molecular characteristics with SSA/P, but it is unclear whether SSA/Ps are derived from HPs or whether they develop by a different pathogenetic pathway. Previous studies have shown that serrated polyps from Korean patients show different prevalence rates of certain molecular abnormalities compared with similar lesions from American patients, and this suggests that lifestyle and dietary factors may influence the serrated neoplasia pathway. The purpose of this study was to evaluate the molecular features of HPs and SSA/Ps, the latter both with and without dysplasia, from Korean patients and to compare the findings with similar lesions from American patients. One hundred and eleven serrated polyps, consisting of 45 HPs (30 microvesicular, 11 goblet cell, 4 mucin depleted) and 56 SSA/Ps (36 with dysplasia, 20 without dysplasia), were retrieved from the pathology files of a large medical center in Korea and 38 SSA/P from American patients were evaluated for BRAF and KRAS mutations, microsatellite instability, and hypermethylation of O6-methylguanine-DNA methyltransferase (MGMT), hMLH1, adenomatous polyposis coli (APC), p16, methylated in tumor-1 (MINT-1), MINT2, and MINT31. Methylation of hMLH1 was performed using 2 different sets of primers. Twenty-three conventional adenomas from Korean patients were included as controls. The data were compared between polyp subtypes and between polyps in the right versus the left colon. With regard to HP, KRAS mutations were present in 31.1% of polyps and BRAF mutations in 46.7% of polyps. KRAS mutations were significantly more common in goblet cell HP and BRAF in microvesicular HP (MVHP). Methylation of MGMT, hMLH1, APC, p16, MINT1, MINT2, and MINT31 were

  11. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signaling pathway and causes Lenz microphthalmia syndrome

    Science.gov (United States)

    Esmailpour, Taraneh; Riazifar, Hamidreza; Liu, Linan; Donkervoort, Sandra; Huang, Vincent H; Madaan, Shreshtha; Shoucri, Bassem M; Busch, Anke; Wu, Jie; Towbin, Alexander; Chadwick, Robert B; Sequeira, Adolfo; Vawter, Marquis P; Sun, Guoli; Johnston, Jennifer J; Biesecker, Leslie G; Kawaguchi, Riki; Sun, Hui; Kimonis, Virginia; Huang, Taosheng

    2014-01-01

    Introduction Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth. Intellectual disability and seizure disorders are seen in about 60% of affected males. To date, no gene has been identified for LMS in the microphthalmia syndrome 1 locus (MCOPS1). In this study, we aim to find the disease-causing gene for this condition. Methods and results Using exome sequencing in a family with three affected brothers, we identified a mutation in the intron 7 splice donor site (c.471+2T→A) of the N-acetyltransferase NAA10 gene. NAA10 has been previously shown to be mutated in patients with Ogden syndrome, which is clinically distinct from LMS. Linkage studies for this family mapped the disease locus to Xq27-Xq28, which was consistent with the locus of NAA10. The mutation co-segregated with the phenotype and cDNA analysis showed aberrant transcripts. Patient fibroblasts lacked expression of full length NAA10 protein and displayed cell proliferation defects. Expression array studies showed significant dysregulation of genes associated with genetic forms of anophthalmia such as BMP4, STRA6, and downstream targets of BCOR and the canonical WNT pathway. In particular, STRA6 is a retinol binding protein receptor that mediates cellular uptake of retinol/vitamin A and plays a major role in regulating the retinoic acid signalling pathway. A retinol uptake assay showed that retinol uptake was decreased in patient cells. Conclusions We conclude that the NAA10 mutation is the cause of LMS in this family, likely through the dysregulation of the retinoic acid signalling pathway. PMID:24431331

  12. Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

    Directory of Open Access Journals (Sweden)

    Lopez Jimenez Nelson

    2011-12-01

    Full Text Available Abstract Background Anophthalmia/microphthalmia (A/M is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M. Methods We used a pooled sequencing design, together with custom single nucleotide polymorphism (SNP calling software. We verified predicted sequence alterations using Sanger sequencing. Results We verified three mutations - c.542delC in SOX2, resulting in p.Pro181Argfs*22, p.Glu105X in OTX2 and p.Cys240X in FOXE3. We found several novel sequence alterations and SNPs that were likely to be non-pathogenic - p.Glu42Lys in CRYBA4, p.Val201Met in FOXE3 and p.Asp291Asn in VSX2. Our analysis methodology gave one false positive result comprising a mutation in PAX6 (c.1268A > T, predicting p.X423LeuextX*15 that was not verified by Sanger sequencing. We also failed to detect one 20 base pair (bp deletion and one 3 bp duplication in SOX2. Conclusions Our results demonstrated the power of next-generation sequencing with pooled sample groups for the rapid screening of candidate genes for A/M as we were correctly able to identify disease-causing mutations. However, next-generation sequencing was less useful for small, intragenic deletions and duplications. We did not find mutations in 10/15 patients and conclude that there is a need for further gene discovery in A/M.

  13. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

    Science.gov (United States)

    Jimenez, Nelson Lopez; Flannick, Jason; Yahyavi, Mani; Li, Jiang; Bardakjian, Tanya; Tonkin, Leath; Schneider, Adele; Sherr, Elliott H; Slavotinek, Anne M

    2011-12-28

    Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M. We used a pooled sequencing design, together with custom single nucleotide polymorphism (SNP) calling software. We verified predicted sequence alterations using Sanger sequencing. We verified three mutations - c.542delC in SOX2, resulting in p.Pro181Argfs*22, p.Glu105X in OTX2 and p.Cys240X in FOXE3. We found several novel sequence alterations and SNPs that were likely to be non-pathogenic - p.Glu42Lys in CRYBA4, p.Val201Met in FOXE3 and p.Asp291Asn in VSX2. Our analysis methodology gave one false positive result comprising a mutation in PAX6 (c.1268A > T, predicting p.X423LeuextX*15) that was not verified by Sanger sequencing. We also failed to detect one 20 base pair (bp) deletion and one 3 bp duplication in SOX2. Our results demonstrated the power of next-generation sequencing with pooled sample groups for the rapid screening of candidate genes for A/M as we were correctly able to identify disease-causing mutations. However, next-generation sequencing was less useful for small, intragenic deletions and duplications. We did not find mutations in 10/15 patients and conclude that there is a need for further gene discovery in A/M.

  14. Estrogen and progesterone receptors have distinct roles in the establishment of the hyperplastic phenotype in PR-A transgenic mice

    Energy Technology Data Exchange (ETDEWEB)

    Simian, Marina; Bissell, Mina J.; Barcellos-Hoff, Mary Helen; Shyamala, Gopalan

    2009-05-11

    Expression of the A and B forms of progesterone receptor (PR) in an appropriate ratio is critical for mammary development. Mammary glands of PR-A transgenic mice, carrying an additional A form of PR as a transgene, exhibit morphological features associated with the development of mammary tumors. Our objective was to determine the roles of estrogen (E) and progesterone (P) in the genesis of mammary hyperplasias/preneoplasias in PR-A transgenics. We subjected PR-A mice to hormonal treatments and analyzed mammary glands for the presence of hyperplasias and used BrdU incorporation to measure proliferation. Quantitative image analysis was carried out to compare levels of latency-associated peptide and transforming growth factor beta 1 (TGF{beta}1) between PR-A and PR-B transgenics. Basement membrane disruption was examined by immunofluorescence and proteolytic activity by zymography. The hyperplastic phenotype of PR-A transgenics is inhibited by ovariectomy, and is reversed by treatment with E + P. Studies using the antiestrogen ICI 182,780 or antiprogestins RU486 or ZK 98,299 show that the increase in proliferation requires signaling through E/estrogen receptor alpha but is not sufficient to give rise to hyperplasias, whereas signaling through P/PR has little impact on proliferation but is essential for the manifestation of hyperplasias. Increased proliferation is correlated with decreased TGF{beta}1 activation in the PR-A transgenics. Analysis of basement membrane integrity showed loss of laminin-5, collagen III and collagen IV in mammary glands of PR-A mice, which is restored by ovariectomy. Examination of matrix metalloproteases (MMPs) showed that total levels of MMP-2 correlate with the steady-state levels of PR, and that areas of laminin-5 loss coincide with those of activation of MMP-2 in PR-A transgenics. Activation of MMP-2 is dependent on treatment with E and P in ovariectomized wild-type mice, but is achieved only by treatment with P in PR-A mice. These data

  15. Efficacy and safety of ultrasound-guided radiofrequency ablation of hyperplastic parathyroid gland for secondary hyperparathyroidism associated with chronic kidney disease.

    Science.gov (United States)

    Peng, Chengzhong; Zhang, Zhengxian; Liu, Jibin; Chen, Hongyu; Tu, Xiao; Hu, Rihong; Ni, Jun; Weng, Ning; Pang, Haisu; Xue, Zhengmei

    2017-03-01

    The purpose of this study was to determine if ultrasound-guided radiofrequency ablation (RFA) of hyperplastic parathyroid glands could be used to treat secondary hyperparathyroidism (HPT) in patients with chronic kidney disease. RFA of the hyperplastic parathyroid glands was performed in 34 patients with secondary HPT. Intact parathyroid hormone (iPTH), calcium, and phosphorus were measured. The outcome was based on the ablation extent (ie, 4, 3, and 1-2 glands). The iPTH, calcium, and phosphorus levels decreased in all groups after RFA. One year after ablation, these parameters remained significantly lower in the 4-gland ablation group compared with the 3-gland and 1 to 2-gland groups. The same tendency was observed for the symptom score. The iPTH levels of secondary HPT is feasible in selected patients. © 2016 Wiley Periodicals, Inc. Head Neck 39: 564-571, 2017. © 2016 Wiley Periodicals, Inc.

  16. Cyclooxygenase-2 overexpression is common in serrated and non-serrated colorectal adenoma, but uncommon in hyperplastic polyp and sessile serrated polyp/adenoma

    Directory of Open Access Journals (Sweden)

    Kirkner Gregory J

    2008-01-01

    Full Text Available Abstract Background Cyclooxygenase-2 (COX-2, PTGS2 plays an important role in colorectal carcinogenesis. COX-2 overexpression in colorectal cancer is inversely associated with microsatellite instability (MSI and the CpG island methylator phenotype (CIMP. Evidence suggests that MSI/CIMP+ colorectal cancer may arise through the serrated tumorigenic pathway through various forms of serrated neoplasias. Therefore, we hypothesized that COX-2 may play a less important role in the serrated pathway. Methods By immunohistochemistry, we assessed COX-2 expression in 24 hyperplastic polyps, 7 sessile serrated polyp/adenomas (SSA, 5 mixed polyps with SSA and adenoma, 27 traditional serrated adenomas, 515 non-serrated adenomas (tubular adenoma, tubulovillous adenoma and villous adenoma, 33 adenomas with intramucosal carcinomas, 96 adenocarcinomas with serration (corkscrew gland and 111 adenocarcinomas without serration. Results Strong (2+ COX-2 overexpression was more common in non-serrated adenomas (28% = 143/515 than in hyperplastic polyps (4.2% = 1/24, p = 0.008 and serrated polyps (7 SSAs and 5 mixed polyps (0% = 0/12, p = 0.04. Furthermore, any (1+/2+ COX-2 overexpression was more frequent in non-serrated adenomas (60% = 307/515 than in hyperplastic polyps (13% = 3/24, p Conclusion COX-2 overexpression is infrequent in hyperplastic polyp, SSA and mixed polyp with SSA and adenoma, compared to non-serrated and serrated adenoma. COX-2 overexpression becomes more frequent as tumors progress to higher grade neoplasias. Our observations suggest that COX-2 may play a less significant role in the serrated pathway of tumorigenesis; however, COX-2 may still play a role in later stage of the serrated pathway.

  17. Anophthalmia and serious microphthalmia: a summary of the problems associated with antenatal diagnosis and therapeutic refunding in Sub-Saharan Africa

    Directory of Open Access Journals (Sweden)

    Diomande IA

    2015-11-01

    Full Text Available Ibrahim Abib Diomande,1 Abdoulaye Toure,2 Konan Virgile Koffi,1 Gossé François Diomande,1 Windinmanégdé Pierre Djiguimde,3 Nouraly Habib,4 Ahgbatouhabéba Ahnoux-Zabsonre3 1Ophthalmology Department, Center Hospital University of Bouaké, University Alassane Ouattara, 2Radiology Department, Center Hospital University of Yopougon, University Félix Houphouët Boigny, Côte d'Ivoire; 3Ophthalmology Department, Center Hospital University Yalgado Ouédraogo, Ouagadougou, Burkina Faso; 4Radiology Department, Center Hospital University of Mahavoky Atsimo, Mahajanga, MadagascarAbstract: Anophthalmia and serious microphthalmia are conditions characterized by the complete lack of the primary optic vesicle or the presence of the rudimentary eye-like structure. These are rare prenatal conditions, yet diagnoses remain a challenge in Black African areas, raising a major concerns surrounding care after birth. This paper reports a case of anophthalmia and serious microphthalmia, the diagnosis of which was not possible despite many ultrasounds undergone by the mother during pregnancy.Keywords: pediatric, malformation, antenatal diagnosis, treatment, Africa

  18. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

    Science.gov (United States)

    Yahyavi, Mani; Abouzeid, Hana; Gawdat, Ghada; de Preux, Anne-Sophie; Xiao, Tong; Bardakjian, Tanya; Schneider, Adele; Choi, Alex; Jorgenson, Eric; Baier, Herwig; El Sada, Mohamad; Schorderet, Daniel F; Slavotinek, Anne M

    2013-08-15

    The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems.

  19. The efficacy of low and high dose (99m)Tc-MIBI protocols for intraoperative identification of hyperplastic parathyroid glands in secondary hyperparathyroidism.

    Science.gov (United States)

    Gencoglu, Esra Arzu; Aktas, Ayse

    2014-01-01

    The aim of this study was to compare the efficacy of low- and high-dose (99m)Tc-MIBI protocols for intraoperative identification of hyperplastic parathyroid glands via gamma probe in secondary hyperparathyroidism. This retrospective study was conducted using a prospective database of 59 patients who had undergone radioguided subtotal parathyroidectomy between 2004-2012. The patients were studied in 2 groups. Group 1 (n=31) received 37 MBq (99m)Tc-MIBI intravenously in the surgical room approximately 10 min before the beginning of the intervention and surgery was performed under gamma probe guidance. Group 2 (n=28) received 555 MBq (99m)Tc- MIBI intravenously 2h before surgery, which was also performed under gamma probe guidance. Intraoperative gamma probe findings, laboratory findings, and histopathological findings were evaluated together. Using acceptance of the histopathological findings as gold standard, sensitivity and specificity of intraoperative gamma probe for identifying hyperplastic parathyroid glands was 98% and 100%, respectively, in both groups. In the light of these findings, it is concluded that the low-dose (99m)Tc-MIBI protocol might be preferable for intraoperative identification of hyperplastic parathyroid glands in secondary hyperparathyroidism patients because it was observed to be as effective as the high-dose (99m)Tc-MIBI protocol. Furthermore, the low-dose protocol does not have the disadvantages that are associated with the high-dose protocol. Copyright © 2014 Elsevier España, S.L. and SEMNIM. All rights reserved.

  20. Hyper-connectivity and hyper-plasticity in the medial prefrontal cortex in the valproic acid animal model of autism

    Directory of Open Access Journals (Sweden)

    Tania Rinaldi

    2008-10-01

    Full Text Available The prefrontal cortex has been extensively implicated in autism to explain deficits in executive and other higher-order functions related to cognition, language, sociability and emotion. The possible changes at the level of the neuronal microcircuit are however not known. We studied microcircuit alterations in the prefrontal cortex in the valproic acid rat model of autism and found that the layer 5 pyramidal neurons are connected to significantly more neighbouring neurons than in controls. These excitatory connections are more plastic displaying enhanced long-term potentiation of the strength of synapses. The microcircuit alterations found in the prefrontal cortex are therefore similar to the alterations previously found in the somatosensory cortex. Hyper-connectivity and hyper-plasticity in the prefrontal cortex implies hyper-functionality of one of the highest order processing regions in the brain, and stands in contrast to the hypo-functionality that is normally proposed in this region to explain some of the autistic symptoms. We propose that a number of deficits in autism such as sociability, attention, multi-tasking and repetitive behaviours, should be re-interpreted in the light of a hyper-functional prefrontal cortex.

  1. Stromal laminin chain distribution in normal, hyperplastic and malignant oral mucosa: relation to myofibroblast occurrence and vessel formation.

    Science.gov (United States)

    Franz, Marcus; Wolheim, Anke; Richter, Petra; Umbreit, Claudia; Dahse, Regine; Driemel, Oliver; Hyckel, Peter; Virtanen, Ismo; Kosmehl, Hartwig; Berndt, Alexander

    2010-04-01

    The contribution of stromal laminin chain expression to malignant potential, tumour stroma reorganization and vessel formation in oral squamous cell carcinoma (OSCC) is not fully understood. Therefore, the expression of the laminin chains alpha2, alpha3, alpha4, alpha5 and gamma2 in the stromal compartment/vascular structures in OSCC was analysed. Frozen tissue of OSCC (9x G1, 24x G2, 8x G3) and normal (2x)/hyperplastic (11x) oral mucosa was subjected to laminin chain and alpha-smooth muscle actin (ASMA) immunohistochemistry. Results were correlated to tumour grade. The relation of laminin chain positive vessels to total vessel number was assessed by immunofluorescence double labelling with CD31. Stromal laminin alpha2 chain significantly decreases and alpha3, alpha4, alpha5 and gamma2 chains and also ASMA significantly increase with rising grade. The amount of stromal alpha3, alpha4 and gamma2 chains significantly increased with rising ASMA positivity. There is a significant decrease in alpha3 chain positive vessels with neoplastic transformation. Mediated by myofibroblasts, OSCC development is associated with a stromal up-regulation of laminin isoforms possibly contributing to a migration promoting microenvironment. A vascular basement membrane reorganization concerning alpha3 and gamma2 chain laminins during tumour angioneogenesis is suggested.

  2. Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

    Science.gov (United States)

    Semerci, C Nur; Kalay, Ersan; Yıldırım, Cem; Dinçer, Tuba; Olmez, Akgün; Toraman, Bayram; Koçyiğit, Ali; Bulgu, Yunus; Okur, Volkan; Satıroğlu-Tufan, Lale; Akarsu, Nurten A

    2014-06-01

    This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotide polymorphism genotyping and homozygosity mapping were used to identify the localisation of the genetic defect in question. Coding region of the ALDH1A3 gene was screened via direct sequencing. cDNA samples were generated from primary fibroblast cell cultures for expression analysis. Reverse transcriptase PCR (RT-PCR) analysis was performed using direct sequencing of the obtained fragments. The causative genetic defect was mapped to chromosome 15q26.3. A homozygous G>A substitution (c.666G>A) at the last nucleotide of exon 6 in the ALDH1A3 gene was identified in the first family. Further cDNA sequencing of ALDH1A3 showed that the c.666G>A mutation caused skipping of exon 6, which predicted in-frame loss of 43 amino acids (p.Trp180_Glu222del). A novel missense c.1398C>A mutation in exon 12 of ALDH1A3 that causes the substitution of a conserved asparagine by lysine at amino acid position 466 (p.Asn466Lys) was observed in the second family. No extraocular findings-except for nevus flammeus in one affected individual and a variant of Dandy-Walker malformation in another affected individual-were observed. Autistic-like behaviour and mental retardation were observed in three cases. In conclusion, novel ALDH1A3 mutations identified in the present study confirm the pivotal role of ALDH1A3 in human eye development. Autistic features, previously reported as an associated finding, were considered to be the result of social deprivation and inadequate parenting during early infancy in the presented families. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  3. Expression of cysLT1 and cysLT2 Receptor in Chronic Hyperplastic Eosinophilic Sinusitis

    International Nuclear Information System (INIS)

    Ouyang, Yuhui; Kamijo, Atsushi; Murata, Shin-ichi; Okamoto, Atsushi; Endo, Shuichiro; Katoh, Ryohei; Masuyama, Keisuke

    2009-01-01

    Elevated production of cysteinyl leukotrienes (cysLTs) from sinus tissues and abundant sinus eosinophils are characteristic features of chronic hyperplastic eosinophilic sinusitis (CHS). CysLTs exert their action through G-protein-coupled receptors named cysLTs receptor type I (cysLT1R) and type II (cysLT2R). These expressions of cysLT receptors in the sinus mucosa have yet to be clarified and the relationship between eosinophilia and the expression of these receptors remains obscure. We compared the expressions of cysLT1R and cysLT2R in the sinus mucosa in patients with CHS, non-eosinophilic chronic sinusitis (NECS), and control sinus tissues; and analyzed the correlation between the expression of CysLTRs and the presence of sinus eosinophils by immunohistochemistry and real-time PCR. A significantly higher percentage of eosinophils expressing cysLT2R protein was observed in patients with CHS compared with NECS and controls. In addition, cysLT2R mRNA expression in CHS was significantly higher than in NECS and controls. Furthermore, a positive correlation was observed between cysLT2R mRNA expression and the number of infiltrated eosinophils. In contrast, the cysLT1R mRNA expression did not differ significantly among these groups. The effect of cysLTs on sinus eosinophils may be mediated through the cysLT2R in patients with CHS. These results may suggest the therapeutic benefit of cysLT2R antagonists in CHS

  4. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

    Science.gov (United States)

    Kondo, Yukiko; Koshimizu, Eriko; Megarbane, Andre; Hamanoue, Haruka; Okada, Ippei; Nishiyama, Kiyomi; Kodera, Hirofumi; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Doi, Hiroshi; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi

    2013-07-01

    Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative gene for MLA. However, there are several MLA families without SMOC1 abnormality, suggesting locus heterogeneity in MLA. We aimed to identify a pathogenic mutation in one Lebanese family having an MLA-like condition without SMOC1 mutation by whole-exome sequencing (WES) combined with homozygosity mapping. A c.683C>T (p.Thr228Met) in FNBP4 was found as a primary candidate, drawing the attention that FNBP4 and SMOC1 may potentially modulate BMP signaling. Copyright © 2013 Wiley Periodicals, Inc.

  5. Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.

    Science.gov (United States)

    Said, Mariem Ben; Chouchène, Ebtissem; Salem, Salma Ben; Daoud, Kods; Largueche, Leila; Bouassida, Walid; Benzina, Zeineb; Ayadi, Hammadi; Söderkvist, Peter; Matri, Leila; Hmani-Aifa, Mounira

    2013-10-10

    Congenital microphthalmia (CMIC) is a common developmental ocular disorder characterized by a small, and sometimes malformed, eye. Posterior microphthalmia (PM) and nanophthalmia are two rare subtypes of isolated CMIC characterized by extreme hyperopia due to short axial length and elevated lens/eye volume ratio. While nanophthalmia is associated with a reduced size in both anterior and posterior segments, PM involves a normal-size anterior chamber but a small posterior segment. Several genes encoding transcription and non-transcription regulators have been identified in different forms of CMIC. MFRP gene mutations have, for instance, been associated with nanophthalmia, and mutations in the recently identified PRSS56 gene have been linked to PM. So far, these two forms of CMIC have been associated with 9 mutations in PRSS56. Of particular interest, a c.1059_1066insC mutation has recently been reported in four Tunisian families with isolated PM and one Tunisian family with nanophthalmia. Here, we performed a genome-wide scan using a high density single nucleotide polymorphism (SNP) array 50 K in a large consanguineous Tunisian family (PM7) affected with PM and identified the same causative disease mutation. A total of 24 polymorphic markers spanning the PRSS56 gene in 6 families originating from different regions of Tunisia were analyzed to investigate the origin of the c.1059_1066insC mutation and to determine whether it arose in a common ancestor. A highly significant disease-associated haplotype, spanning across the 146 kb of the 2q37.1 chromosome, was conserved in those families, suggesting that c.1059_1066insC arose from a common founder. The age of the mutation in this haplotype was estimated to be around 1,850 years. The identification of such 'founder effects' may greatly simplify diagnostic genetic screening and lead to better prognostic counseling. © 2013 Elsevier B.V. All rights reserved.

  6. Persistent Aerial Tracking

    KAUST Repository

    Mueller, Matthias

    2016-01-01

    persistent, robust and autonomous object tracking system for unmanned aerial vehicles (UAVs) called Persistent Aerial Tracking (PAT). A computer vision and control strategy is applied to a diverse set of moving objects (e.g. humans, animals, cars, boats, etc

  7. Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2

    DEFF Research Database (Denmark)

    Liljegren, Annelie; Barker, Gail; Elliott, Faye

    2008-01-01

    PURPOSE: To determine the prevalence of adenomatous and hyperplastic polyps in a large cohort of individuals with a germline mutation in a mismatch repair (MMR) gene, the major genetic determinant of hereditary nonpolyposis colorectal cancer (HNPCC). These prevalences have been estimated previously...... in smaller studies, and the results have been found to be variable. PATIENTS AND METHODS: Colorectal Adenoma/Carcinoma Prevention Programme 2 trial is a chemoprevention trial in people classified as having HNPCC. The 695 patients with a proven germline MMR mutation and documented screening history before...

  8. Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome.

    Directory of Open Access Journals (Sweden)

    Musa Drini

    2011-02-01

    Full Text Available Hyperplastic Polyposis Syndrome (HPS is a condition associated with multiple serrated polyps, and an increased risk of colorectal cancer (CRC. At least half of CRCs arising in HPS show a CpG island methylator phenotype (CIMP, potentially linked to aberrant DNA methyltransferase (DNMT activity. CIMP is associated with methylation of tumor suppressor genes including regulators of DNA mismatch repair (such as MLH1, MGMT, and negative regulators of Wnt signaling (such as WIF1. In this study, we investigated the potential for interaction of genetic and epigenetic variation in DNMT genes, in the aetiology of HPS.We utilized high resolution melting (HRM analysis to screen 45 cases with HPS for novel sequence variants in DNMT1, DNMT3A, DNMT3B, and DNMT3L. 21 polyps from 13 patients were screened for BRAF and KRAS mutations, with assessment of promoter methylation in the DNMT1, DNMT3A, DNMT3B, DNMT3L MLH1, MGMT, and WIF1 gene promoters.No pathologic germline mutations were observed in any DNA-methyltransferase gene. However, the T allele of rs62106244 (intron 10 of DNMT1 gene was over-represented in cases with HPS (p<0.01 compared with population controls. The DNMT1, DNMT3A and DNMT3B promoters were unmethylated in all instances. Interestingly, the DNMT3L promoter showed low levels of methylation in polyps and normal colonic mucosa relative to matched disease free cells with methylation level negatively correlated to expression level in normal colonic tissue. DNMT3L promoter hypomethylation was more often found in polyps harbouring KRAS mutations (p = 0.0053. BRAF mutations were common (11 out of 21 polyps, whilst KRAS mutations were identified in 4 of 21 polyps.Genetic or epigenetic alterations in DNMT genes do not appear to be associated with HPS, but further investigation of genetic variation at rs62106244 is justified given the high frequency of the minor allele in this case series.

  9. Treatment Outcomes of Full Pulpotomy as an Alternative to Tooth Extraction in Molars with Hyperplastic/Irreversible Pulpitis: A Case Report

    Science.gov (United States)

    Asgary, Saeed; Verma, Prashant; Nosrat, Ali

    2017-01-01

    Root canal therapy (RCT) is a common and successful treatment for irreversible pulpitis due to carious pulp exposure in mature permanent teeth. However, it is often an expensive procedure, may require multiple appointments, and requires a high level of training and clinical skill, specifically in molars. Uninsured patients, low-income patients, and patients with limited access to specialist care often elect for extraction of restorable teeth with irreversible pulpitis. There is a need for an alternative affordable treatment option to preserve their teeth and maintain chewing function. A case of pulpotomy using calcium-enriched mixture (CEM) cement in two maxillary molars (#14 and 15) in a healthy 36-year-old patient is presented. Both teeth were diagnosed with symptomatic hyperplastic/irreversible pulpitis. Patient did not have dental insurance, was unable to afford RCT, and refused to extract the teeth. CEM pulpotomy and amalgam build-ups were done as an alternative to extraction. At 2-year recall, both teeth were functional with no signs/symptoms of inflammation/infection. Periapical radiographs and 3D images showed normal PDL around all roots. Pulpotomy with CEM biomaterial might be a viable alternative to tooth extraction for mature permanent teeth with hyperplastic/irreversible pulpitis, and can result in long-term tooth retention and improved oral health. PMID:28512498

  10. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

    Directory of Open Access Journals (Sweden)

    Wang Xiaoqin

    2007-12-01

    Full Text Available Abstract Background Cleidocranial dysplasia (CCD is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results The family carries a c.T407C (p.L136P mutation in the DNA- and CBFβ-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis.

  11. Gingival Anaplastic Large-Cell Lymphoma Mimicking Hyperplastic Benignancy as the First Clinical Manifestation of AIDS: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Rafaela Elvira Rozza-de-Menezes

    2013-01-01

    Full Text Available This paper presents an unusual case of gingival ALCL, which mimicked a benign hyperplastic lesion that occurred in a 57-year-old white man representing the first clinical manifestation of acquired immunodeficiency syndrome (AIDS. The patient was referred to the Dental Clinic of PUCPR complaining of a lobulated nodule on the gingiva of his upper central incisors. The presence of advanced chronic periodontitis and dental plaque raised suspicion for a benignancy. An excisional biopsy was performed, and large pleomorphic cells with an abundant cytoplasm, sometimes containing prominent nucleoli and “Hallmark” cells, were observed through hematoxylin and eosin staining. The tumor cells showed strong CD30 expression, EMA, Ki-67, and LCA, and negative stain for p80NPM/ALK, CKAE1/AE3, CD20, CD3, CD56, and CD15. The final diagnosis was ALCL (ALK-negative. Further laboratory tests revealed positivity for human immunodeficiency virus (HIV. The patient was submitted to chemotherapy, but four months after diagnosis, the patient died due to pneumonia and respiratory failure. Oral anaplastic large-cell lymphoma (ALCL is a rare disorder. Only 5 cases involving the gingiva have been reported, and to our knowledge, this is the first case reported of the ALCL, which mimicked a hyperplastic benignancy as the first clinical manifestation of AIDS.

  12. KRONİK HİPERPLASTÎK PULPİTİS (PULPA POLİPİ) - Bir Olgu Nedeni İle CHRONIC HYPERPLASTIC PULPITIS (PULP POLYP) -A Case Report-

    OpenAIRE

    Ulukapı, Işın; Stich, Herrmann

    2012-01-01

    ÖZETKronik hipcrpiasük pulpitis (pulpa polipi) kronikBu çalışmada bir pulpa polipi plgusu histolojik olarak incelenmiştir.Anahtar sözcükler: Kronik pulpa hastalıkları, kronik hiperplastik pulpitis, pulpa polipi.ABTRACTChronic hyperplastic pulpitis (pulp polyp) is a quite uncommon form of chronic pulp disease. It occurs almost exclusively in children and young adults and involves teeth with large open carious lesions. The hyperplastic tissue is basically granulation tissue and inflammatory cel...

  13. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia

    Science.gov (United States)

    Zhou, Jie; Kherani, Femida; Bardakjian, Tanya M.; Katowitz, James; Hughes, Nkecha; Schimmenti, Lisa A.; Schneider, Adele

    2008-01-01

    Purpose Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia. In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10. Methods Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening of 34 affected individuals (two sets of siblings), five unaffected family members, and 80 healthy controls. Patient samples containing heteroduplexes were selected for sequence analysis. Base pair changes in SOX2 and CHX10 were confirmed by sequencing bidirectionally in patient samples. Results Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort. Mutation c.310 G>T (p. Glu104X), found in one patient, was in the region encoding the high mobility group (HMG) DNA-binding domain and resulted in a change from glutamic acid to a stop codon. The second mutation, noted in two affected siblings, was a single nucleotide deletion c.549delC (p. Pro184ArgfsX19) in the region encoding the activation domain, resulting in a frameshift and premature termination of the coding sequence. The shortened protein products may result in the loss of function. In addition, a novel nucleotide substitution c.*557G>A was identified in the 3′-untranslated region in one patient. The relationship between the nucleotide change and the protein function is indeterminate. A known single nucleotide polymorphism (c. *469 C>A, SNP rs11915160) was also detected in 2 of the 34 patients. Screening of CHX10 identified two synonymous sequence variants, c.471 C>T (p.Ser157Ser, rs35435463) and c.579 G>A (p. Gln193Gln, novel SNP), and one non-synonymous sequence variant, c.871 G>A (p. Asp291Asn, novel SNP). The non-synonymous polymorphism was also present in healthy controls, suggesting non-causality. Conclusions These results support the role of SOX2 in ocular

  14. SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

    Science.gov (United States)

    Mustafa, Noor; Vetro, Annalisa; Notarangelo, Lucia Dora; de Jonge, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, Sabrina Rita; Morbini, Patrizia; Zuffardi, Orsetta

    2017-01-01

    Abstract SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin–Siris syndrome (CSS) patients and in almost all small‐cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain‐of‐function or dominant‐negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole‐exome sequencing to study a 15‐year‐old patient with mild CSS who concomitantly developed SCCOHT at age 13 years. Interestingly, our patient also showed congenital microphthalmia, which has never previously been reported in CSS patients. We detected a de novo germline heterozygous nonsense mutation in exon 19 of SMARCA4 (c.2935C > T;p.Arg979*), and a somatic frameshift mutation in exon 6 (c.1236_1236delC;p.Gln413Argfs*88), causing complete loss of SMARCA4 immunostaining in the tumour. The immunohistochemical findings are supported by the observation that the c.2935C > T mutant transcript was detected by reverse transcription polymerase chain reaction at a much lower level than the wild‐type allele in whole blood and the lymphoblastoid cell line of the proband, confirming nonsense‐mediated mRNA decay. Accordingly, immunoblotting demonstrated that there was approximately half the amount of SMARCA4 protein in the proband's cells as in controls. This study suggests that SMARCA4 constitutional mutations associated with CSS are not necessarily non‐truncating, and that haploinsufficiency may explain milder CSS phenotypes, as previously reported for haploinsufficient ARID1B. In addition, our case supports the dual role of chromatin remodellers in developmental disorders and cancer, as well as the involvement of SMARCA4 in microphthalmia, confirming previous findings in mouse models and the DECIPHER database. Finally, we speculate that mild CSS might be under‐recognized in a proportion of SCCOHT patients harbouring SMARCA4 mutations

  15. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

    Science.gov (United States)

    Errichiello, Edoardo; Mustafa, Noor; Vetro, Annalisa; Notarangelo, Lucia Dora; de Jonge, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, Sabrina Rita; Morbini, Patrizia; Zuffardi, Orsetta

    2017-09-01

    SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and in almost all small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated with CSS, whereas inactivating mutations, leading to loss of SMARCA4 expression, have been exclusively found in SCCOHT. We applied whole-exome sequencing to study a 15-year-old patient with mild CSS who concomitantly developed SCCOHT at age 13 years. Interestingly, our patient also showed congenital microphthalmia, which has never previously been reported in CSS patients. We detected a de novo germline heterozygous nonsense mutation in exon 19 of SMARCA4 (c.2935C > T;p.Arg979*), and a somatic frameshift mutation in exon 6 (c.1236_1236delC;p.Gln413Argfs*88), causing complete loss of SMARCA4 immunostaining in the tumour. The immunohistochemical findings are supported by the observation that the c.2935C > T mutant transcript was detected by reverse transcription polymerase chain reaction at a much lower level than the wild-type allele in whole blood and the lymphoblastoid cell line of the proband, confirming nonsense-mediated mRNA decay. Accordingly, immunoblotting demonstrated that there was approximately half the amount of SMARCA4 protein in the proband's cells as in controls. This study suggests that SMARCA4 constitutional mutations associated with CSS are not necessarily non-truncating, and that haploinsufficiency may explain milder CSS phenotypes, as previously reported for haploinsufficient ARID1B. In addition, our case supports the dual role of chromatin remodellers in developmental disorders and cancer, as well as the involvement of SMARCA4 in microphthalmia, confirming previous findings in mouse models and the DECIPHER database. Finally, we speculate that mild CSS might be under-recognized in a proportion of SCCOHT patients harbouring SMARCA4 mutations. © 2017 The Authors. The

  16. Demographics of antibiotic persistence

    DEFF Research Database (Denmark)

    Kollerova, Silvia; Jouvet, Lionel; Steiner, Ulrich

    Persister cells, cells that can survive antibiotic exposure but lack heritable antibiotic resistance, are assumed to play a crucial role for the evolution of antibiotic resistance. Persistence is a stage associated with reduced metabolic activity. Most previous studies have been done on batch...... even play a more prominent role for the evolution of resistance and failures of medical treatment by antibiotics as currently assumed....

  17. A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

    Science.gov (United States)

    Mory, Adi; Ruiz, Francesc X; Dagan, Efrat; Yakovtseva, Evgenia A; Kurolap, Alina; Parés, Xavier; Farrés, Jaume; Gershoni-Baruch, Ruth

    2014-03-01

    Nine affected individuals with isolated anophthalmia/microphthalmia from a large Muslim-inbred kindred were investigated. Assuming autosomal-recessive mode of inheritance, whole-genome linkage analysis, on DNA samples from four affected individuals, was undertaken. Homozygosity mapping techniques were employed and a 1.5-Mbp region, homozygous in all affected individuals, was delineated. The region contained nine genes, one of which, aldehyde dehydrogenase 1 (ALDH1A3), was a clear candidate. This gene seems to encode a key enzyme in the formation of a retinoic-acid gradient along the dorsoventral axis during an early eye development and the development of the olfactory system. Sanger sequence analysis revealed a missense mutation, causing a substitution of valine (Val) to methionine (Met) at position 71. Analyzing the p.Val71Met missense mutation using standard open access software (MutationTaster online, PolyPhen, SIFT/PROVEAN) predicts this variant to be damaging. Enzymatic activity, studied in vitro, showed no changes between the mutated and the wild-type ALDH1A3 protein.

  18. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

    Science.gov (United States)

    Gonzalez-Rodriguez, J; Pelcastre, E L; Tovilla-Canales, J L; Garcia-Ortiz, J E; Amato-Almanza, M; Villanueva-Mendoza, C; Espinosa-Mattar, Z; Zenteno, J C

    2010-08-01

    Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC. SOX2 and OTX2 are the two most commonly mutated genes in monogenic MAC. However, as more numerous samples of MAC subjects would be analysed, a better estimation of the actual involvement of specific MAC-genes could be made. Here, a comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects. PCR amplification and direct automated DNA sequencing of all five genes in 50 unrelated subjects. Eight mutations (16% prevalence) were recognised, including four GDF6 mutations (one novel), two novel RAX mutations, one novel OTX2 mutation and one SOX2 mutation. Anophthalmia and nanophthalmia, not previously associated with GDF6 mutations, were observed in two subjects carrying defects in this gene, expanding the spectrum of GDF6-linked ocular anomalies. Our study underscores the importance of genotyping large groups of patients from distinct ethnic origins for improving the estimation of the global involvement of particular MAC-causing genes.

  19. Development of an HTS-Compatible Assay for Discovery of Melanoma-Related Microphthalmia Transcription Factor Disruptors Using AlphaScreen Technology.

    Science.gov (United States)

    Wang, Jing; Fang, Pengfei; Chase, Peter; Tshori, Sagi; Razin, Ehud; Spicer, Timothy P; Scampavia, Louis; Hodder, Peter; Guo, Min

    2017-01-01

    Microphthalmia transcription factor (MITF) is a master transcription factor expressed in melanocytes, essential for melanocyte survival, differentiation, and pigment formation, and is a key oncogenic factor in melanoma initiation, migration, and treatment resistance. Although identified as an important therapeutic target for melanoma, clinical inhibitors directly targeting the MITF protein are not available. Based on the functional state of MITF, we have designed an MITF dimerization-based AlphaScreen (MIDAS) assay that sensitively and specifically mirrors the dimerization of MITF in vitro. This assay is further exploited for identification of the MITF dimer disruptor for high-throughput screening. A pilot screen against a library of 1280 pharmacologically active compounds indicates that the MIDAS assay performance exhibits exceptional results with a Z' factor of 0.81 and a signal-to-background (S/B) ratio of 3.92 while identifying initial hit compounds that yield an ability to disrupt MITF-DNA interaction. The results presented demonstrate that the MIDAS assay is ready to screen large chemical libraries in order to discover novel modulators of MITF for potential melanoma treatment.

  20. Hair Dyes Resorcinol and Lawsone Reduce Production of Melanin in Melanoma Cells by Tyrosinase Activity Inhibition and Decreasing Tyrosinase and Microphthalmia-Associated Transcription Factor (MITF Expression

    Directory of Open Access Journals (Sweden)

    Shu-Mei Lee

    2015-01-01

    Full Text Available Hair coloring products are one of the most important cosmetics for modern people; there are three major types of hair dyes, including the temporary, semi-permanent and permanent hair dyes. The selected hair dyes (such as ammonium persulfate, sodium persulfate, resorcinol and lawsone are the important components for hair coloring products. Therefore, we analyzed the effects of these compounds on melanogenesis in B16-F10 melanoma cells. The results proved that hair dyes resorcinol and lawsone can reduce the production of melanin. The results also confirmed that resorcinol and lawsone inhibit mushroom and cellular tyrosinase activities in vitro. Resorcinol and lawsone can also downregulate the protein levels of tyrosinase and microphthalmia-associated transcription factor (MITF in B16-F10 cells. Thus, we suggest that frequent use of hair dyes may have the risk of reducing natural melanin production in hair follicles. Moreover, resorcinol and lawsone may also be used as hypopigmenting agents to food, agricultural and cosmetic industry in the future.

  1. Persistent myalgia following whiplash.

    Science.gov (United States)

    Dommerholt, Jan

    2005-10-01

    Persistent myalgia following whiplash is commonly considered the result of poor psychosocial status, illness behavior, or failing coping skills. However, there is much evidence that persistent myalgia may be due to neurophysiologic mechanisms involving peripheral and central sensitization. Myofascial trigger points may play a crucial role in maintaining sensitization. Recent research suggests that the chemical environment of myofascial trigger points is an important factor. Several consequences are reviewed when central pain mechanisms and myofascial trigger points are included in the differential diagnosis and in the management of patients with persistent pain following whiplash.

  2. Prospective study of the 532 nm laser (KTP) versus diode laser 980 nm in the resection of hyperplastic lesions of the oral cavity

    Science.gov (United States)

    Bargiela-Pérez, Patricia; González-Merchán, Jorge; Díaz-Sánchez, Rosa; Serrera-Figallo, Maria-Angeles; Volland, Gerd; Joergens, Martin; Gutiérrez-Pérez, Jose-Luis

    2018-01-01

    Background The aim of this study is to evaluate the resection of hyperplastic lesions on the buccal mucosa comparing the 532nm laser (KTP), versus diode 980nm laser, considering pain, scarring, inflammation and drug consumption that occurred postoperatively with each lasers. Material and Methods A prospective study of consecutive series of 20 patients in two groups that presents hyperplastic lesions on the buccal mucosa. The choice of the KTP laser or diode 980nm laser for the surgery was made randomly. The power used was 1.5W in both groups in a continuous wave mode with a 320 μm optical fiber. Parameters of pain, scarring, inflammation and consumption of drugs were recorded by a Numerical Rating Scale and evaluated postoperatively. These recordings were made the day of the surgery, 24 hours after, 14 and 28 days after. Results Pain and inflammation was light - moderate. The consumption of paracetamol was somewhat higher in the diode 980nm laser versus the KTP laser after 24 hours, although data was not statistically significant; significant differences were found after 28 days in regards to pain (p = 0.023) and inflammation (p = 0.023), but always in the absence parameter so we find no pain in both lasers. Scarring in the two types of laser showed no differences along the visits, with not detected scar retractable. Conclusions Although there is a slight histological difference regarding the KTP laser in the oral soft tissues for clinical use, both wavelengths are very suitable for excision of oral fibroma. Key words:Laser surgery, Laser therapy, oral surgery, soft tissue, 980 nm diode laser, 532 nm KTP laser. PMID:29274158

  3. Introduction: Persistent Modelling

    DEFF Research Database (Denmark)

    Ayres, Phil

    2012-01-01

    This introduction to 'Persistent Modelling – an extended role for architectural representation' identifies how the book probes the relationship between representation and the represented, in an architectural context. It discusses how the book presents an examination and discussion of historical......, familiar contemporary and, perhaps, not so familiar emerging manifestations of this relation. What persists from this probing, fully intact, is that representation and the represented remain inextricably related in our contemporary and emerging practices. What comes into focus is that the nature...

  4. MONITORING OF CASES WITH A CHRONIC PERSISTENT INFECTION WITH HELICOBACTER PYLORI

    Directory of Open Access Journals (Sweden)

    Miglena Stamboliyska

    2014-09-01

    Full Text Available Introduction: The patients with persistent forms of Helicobacter pylori (HP infection are refractory to eradication treatment. They receive unsuccessful therapies, experience frequent recurrences and re-infections. One of the main reasons for the development of persistent forms is an inadequate and insufficient treatment. The persistent forms of HP infection create conditions for the maintenance of activity and for the progression of the induced chronic gastritis. In this aspect these cases will be at a higher risk for the development of gastric cancer. The aim of this study is: to monitor and analyze the cases with persistent HP infection and to establish an approach for their management. Clinical material and methods: The study includes 12 patients (8 female and 4 male at a middle age of 63,7, with a persistent HP infection, who have been observed for a period of five years. Two methods for the detection of HP infection are used – one invasive and one non-invasive. Upper endoscopy with morphological examination was performed. Results: In 9/12 patients HP was unsuccessfully treated for three times, in 2 patients – four times, and in 1 patient – five times. In all patients the initial treatment consisted of a standard triple therapy (STT. In 5 of them STT was conducted twice, with the same regimen for a period of seven days. Two patients received three courses of STT. In four patients an antibiotic resistance was established by means of a cultured assessment. In three cases an HP resistance to Clarithromycine and Metronidazole was demonstrated. Significant gastro-duodenal pathology with atrophic gastritis, intestinal metaplasia, and hyperplastic polyposis was found in all patients. The persistent clinical symptoms had 9 patients. Conclusion: We believe that a devised and proposed step strategy which covers early detection of infection, reliable diagnosis, adequate and successful treatment, and dispensary monitoring, contributes to the

  5. Persistent and recurrent hyperparathyroidism.

    Science.gov (United States)

    Guerin, Carole; Paladino, Nunzia Cinzia; Lowery, Aoife; Castinetti, Fréderic; Taieb, David; Sebag, Fréderic

    2017-06-01

    Despite remarkable progress in imaging modalities and surgical management, persistence or recurrence of primary hyperparathyroidism (PHPT) still occurs in 2.5-5% of cases of PHPT. The aim of this review is to expose the management of persistent and recurrent hyperparathyroidism. A literature search was performed on MEDLINE using the search terms "recurrent" or "persistent" and "hyperparathyroidism" within the past 10 years. We also searched the reference lists of articles identified by this search strategy and selected those we judged relevant. Before considering reoperation, the surgeon must confirm the diagnosis of PHPT. Then, the patient must be evaluated with new imaging modalities. A single adenoma is found in 68% of cases, multiglandular disease in 28%, and parathyroid carcinoma in 3%. Others causes (<1%) include parathyromatosis and graft recurrence. The surgeon must balance the benefits against the risks of a reoperation (permanent hypocalcemia and recurrent laryngeal nerve palsy). If surgery is necessary, a focused approach can be considered in cases of significant imaging foci, but in the case of multiglandular disease, a bilateral neck exploration could be necessary. Patients with multiple endocrine neoplasia syndromes are at high risk of recurrence and should be managed regarding their hereditary pathology. The cure rate of persistent-PHPT or recurrent-PHPT in expert centers is estimated from 93 to 97%. After confirming the diagnosis of PHPT, patients with persistent-PHPT and recurrent-PHPT should be managed in an expert center with all dedicated competencies.

  6. Persistent luminescence nanothermometers

    Science.gov (United States)

    Martín Rodríguez, Emma; López-Peña, Gabriel; Montes, Eduardo; Lifante, Ginés; García Solé, José; Jaque, Daniel; Diaz-Torres, Luis Armando; Salas, Pedro

    2017-08-01

    Persistent phosphorescence nanoparticles emitting in the red and near-infrared spectral regions are strongly demanded as contrast nanoprobes for autofluorescence free bioimaging and biosensing. In this work, we have developed Sr4Al14O25:Eu2+, Cr3+, Nd3+ nanopowders that produce persistent red phosphorescence peaking at 694 nm generated by Cr3+ ions. This emission displays temperature sensitivity in the physiological temperature range (20-60 °C), which makes these nanoparticles potentially useful as fluorescence (contactless) nanothermometers operating without requiring optical excitation. Nd3+ ions, which act as shallow electron traps for the red Cr3+ persistent emission, also display infrared emission bands, extending the fluorescence imaging capability to the second biological window. This unique combination of properties makes these nanoparticles multifunctional luminescent probes with great potential applications in nanomedicine.

  7. Persistent genital arousal disorder

    DEFF Research Database (Denmark)

    Eibye, Simone; Jensen, Hans Mørch

    2014-01-01

    We report a case of a woman suffering from persistent genital arousal disorder (PGAD) after paroxetine cessation. She was admitted to a psychiatric department and diagnosed with agitated depression. Physical investigation showed no gynaecological or neurological explanation; however, a pelvic MRI...

  8. Persistent organic pollutants

    NARCIS (Netherlands)

    Dungen, van den M.W.

    2016-01-01

    Wild caught fish, especially marine fish, can contain high levels of persistent organic pollutants (POPs). In the Netherlands, especially eel from the main rivers have high POP levels. This led to a ban in 2011 on eel fishing due to health concerns. Many of the marine POPs have been related to

  9. Contributions to Persistence Theory

    Directory of Open Access Journals (Sweden)

    Du Dong

    2014-12-01

    Full Text Available Persistence theory discussed in this paper is an application of algebraic topology (Morse Theory [29] to Data Analysis, precisely to qualitative understanding of point cloud data, or PCD for short. PCD can be geometrized as a filtration of simplicial complexes (Vietoris-Rips complex [25] [36] and the homology changes of these complexes provide qualitative information about the data. Bar codes describe the changes in homology with coefficients in a fixed field. When the coefficient field is ℤ2, the calculation of bar codes is done by ELZ algorithm (named after H. Edelsbrunner, D. Letscher, and A. Zomorodian [20]. When the coefficient field is ℝ, we propose an algorithm based on the Hodge decomposition [17]. With Dan Burghelea and Tamal K. Dey we developed a persistence theory which involves level sets discussed in Section 4. We introduce and discuss new computable invariants, the “relevant level persistence numbers” and the “positive and negative bar codes”, and explain how they are related to the bar codes for level persistence. We provide enhancements and modifications of ELZ algorithm to calculate such invariants and illustrate them by examples.

  10. Is corruption really persistent?

    NARCIS (Netherlands)

    Seldadyo, H.; de Haan, J.

    Theoretical and empirical research on corruption generally concludes that corruption is persistent. However, using International Country Risk Guide data for the period 1984-2008 for 101 countries, we find strong evidence that corruption changes over time. In the present study, corruption levels of

  11. 201Tl-99mTc subtraction scintigraphy as a preoperative localization procedure for persistent primary and secondary hyperparathyroidism

    International Nuclear Information System (INIS)

    Geipel, D.; Mischke, W.; Deckart, H.; Weiss, M.L.

    1989-01-01

    5 patients with a persistent hyperparathyroidism underwent thallium-technetium subtraction scintigraphy prior to reoperation. In all cases the fidings obtained by scintigraphy were confirmed by operation. Based on the preoperative localization of parathyroid adenomas and hyperplastic parathyroid bodies, respectively, their extirpation could be performed in short time. This new nuclear medicine localization procedure for identifying hyperparathyroidism has proved to be useful both in the cervical region and the mediastinum. Thus, as a sensitive method with a non-invasive character this procedure should be applied to reoperations before any other localization method. The indication for performing thallium-technetium subtraction scintigraphy as well as its evaluation have to be carried out in close collaboration between surgeons and nuclear medicine specialists. (author)

  12. Monoclonal antibodies reactive with common tumor antigens on UV-induced tumors also react with hyperplastic UV-irradiated skin

    International Nuclear Information System (INIS)

    Spellman, C.W.; Beauchamp, D.A.

    1986-01-01

    Most murine skin tumors induced by ultraviolet light (UVB, 280-340 nm) can be successfully transplanted only into syngeneic hosts that have received subcarcinogenic doses of UVB. The tumor susceptible state is long-lived and mediated by T suppressor cells that control effector responses against common antigens on UV-induced tumors. Because antigen specific suppression arises prior to the appearance of a tumor, questions arise about the source of the original antigen. They have previously reported transplantation studies indicating that UV-irradiated skin is antigenically cross-reactive with UV-induced tumors. They now report on flow cytometry analyses showing that a series of MoAb reactive with common antigens expressed by UV-induced tumors are also reactive on cells from UV-irradiated skin. Various antigens appear at different times in the UV irradiation scheme, and some persist while others are transient. They speculate that the common antigens detected may be the ones to which functional suppression is directed. If true, these results suggest that successful tumors need not escape host defenses to emerge. Rather, tumors may arise and grow progressively if they express antigens that cross-react with specificities to which the host has previously mounted a suppressive response

  13. Sequence analysis of the Ras-MAPK pathway genes SOS1, EGFR & GRB2 in silver foxes (Vulpes vulpes): candidate genes for hereditary hyperplastic gingivitis.

    Science.gov (United States)

    Clark, Jo-Anna B J; Tully, Sara J; Dawn Marshall, H

    2014-12-01

    Hereditary hyperplastic gingivitis (HHG) is an autosomal recessive disease that presents with progressive gingival proliferation in farmed silver foxes. Hereditary gingival fibromatosis (HGF) is an analogous condition in humans that is genetically heterogeneous with several known autosomal dominant loci. For one locus the causative mutation is in the Son of sevenless homologue 1 (SOS1) gene. For the remaining loci, the molecular mechanisms are unknown but Ras pathway involvement is suspected. Here we compare sequences for the SOS1 gene, and two adjacent genes in the Ras pathway, growth receptor bound protein 2 (GRB2) and epidermal growth factor receptor (EGFR), between HHG-affected and unaffected foxes. We conclude that the known HGF causative mutation does not cause HHG in foxes, nor do the coding regions or intron-exon boundaries of these three genes contain any candidate mutations for fox gum disease. Patterns of molecular evolution among foxes and other mammals reflect high conservation and strong functional constraints for SOS1 and GRB2 but reveal a lineage-specific pattern of variability in EGFR consistent with mutational rate differences, relaxed functional constraints, and possibly positive selection.

  14. Persistent Hiccups Following Stapedectomy

    Directory of Open Access Journals (Sweden)

    Aidonis I

    2010-10-01

    Full Text Available Objective: We report a case of a 37 year-old man who developed persistent hiccups after elective stapedectomy. Method and Results: The diagnostic approach is discussed as well as the non-pharmacologic and pharmacologic treatments and overall management. The aim is to stress that there is a variety of potential factors that can induce hiccups perioperatively and in cases like this a step by step approach must be taken. Conclusion: Persistent hiccups are very rare following stapedectomy, control of them is crucial for the successful outcome. The trigger may be more than one factors and the good response to treatment may be due to dealing successfully with more than one thing.

  15. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete

    2016-01-01

    Persistent facial pains, especially temporomandibular disorders (TMD), are common conditions. As dentists are responsible for the treatment of most of these disorders, up-to date knowledge on the latest advances in the field is essential for successful diagnosis and management. The review covers...... TMD, and different neuropathic or putative neuropathic facial pains such as persistent idiopathic facial pain and atypical odontalgia, trigeminal neuralgia and painful posttraumatic trigeminal neuropathy. The article presents an overview of TMD pain as a biopsychosocial condition, its prevalence......, clinical features, consequences, central and peripheral mechanisms, diagnostic criteria (DC/TMD), and principles of management. For each of the neuropathic facial pain entities, the definitions, prevalence, clinical features, and diagnostics are described. The current understanding of the pathophysiology...

  16. Persistent Model #2

    DEFF Research Database (Denmark)

    2013-01-01

    Tensegrity structures and Inflatable membranes can be considered analogous. They can both be described as pressure based systems in which a coherent envelope is tensioned through compressive force in order to achieve a state of self-equilibrium. Persistent Model #2 is a full-scale speculative pro...... Modelling and a sustained critical investigation of the roles digital tools can play in extending the ways in which we think, design, realise and experience architecture....

  17. Intergenerational Top Income Persistence

    DEFF Research Database (Denmark)

    Munk, Martin D.; Bonke, Jens; Hussain, M. Azhar

    2016-01-01

    In this paper, we investigate intergenerational top earnings and top income mobility in Denmark. Access to administrative registers allowed us to look at very small fractions of the population. We find that intergenerational mobility is lower in the top when including capital income in the income...... measure— for the rich top 0.1% fathers and sons the elasticity is 0.466. Compared with Sweden, however, the intergenerational top income persistence is about half the size in Denmark....

  18. Numeric invariants from multidimensional persistence

    Energy Technology Data Exchange (ETDEWEB)

    Skryzalin, Jacek [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Carlsson, Gunnar [Stanford Univ., Stanford, CA (United States)

    2017-05-19

    In this paper, we analyze the space of multidimensional persistence modules from the perspectives of algebraic geometry. We first build a moduli space of a certain subclass of easily analyzed multidimensional persistence modules, which we construct specifically to capture much of the information which can be gained by using multidimensional persistence over one-dimensional persistence. We argue that the global sections of this space provide interesting numeric invariants when evaluated against our subclass of multidimensional persistence modules. Lastly, we extend these global sections to the space of all multidimensional persistence modules and discuss how the resulting numeric invariants might be used to study data.

  19. Inflation persistence and flexible prices

    OpenAIRE

    Robert Dittmar; William T. Gavin; Finn E. Kydland

    2004-01-01

    If the central bank follows an interest rate rule, then inflation is likely to be persistence, even when prices are fully flexible. Any shock, whether persistent or not, may lead to inflation persistence. In equilibrium, the dynamics of inflation are determined by the evolution of the spread between the real interest rate and the central bank’s target. Inflation persistence in U.S. data can be characterized by a vector autocorrelation function relating inflation and deviations of output from ...

  20. Reflections on Student Persistence

    Directory of Open Access Journals (Sweden)

    Vincent Tinto

    2017-07-01

    Full Text Available The Feature for this issue Reflections on Student Persistence has been prepared by Professor Vincent Tinto, Distinguished University Professor Emeritus at Syracuse University, United States of America (USA and a longtime friend and supporter of STARS. Vincent explores the case for motivation to be considered as a significant aspect of the tertiary student psyche by drawing on theoretical frameworks, research and practical experiences related to the issue. He synthesises this extensive, detailed, rich but often somewhat impenetrable data into a trilogy of clear and credible key dimensions of the motivation construct student self efficacy, sense of belonging and perceived value of the curriculum. This interpretation of the literature is a personal but informed reflection and is a timely piece which highlights the breadth and profundity of the presentations at this year's conference in Adelaide, Australia where students in all their diversity are central to our focus on enhancing the student experience. In this opening article, Vincent refers directly to the STARS papers selected for this Conference issue of the Journal which also address the importance of student persistence, self-efficacy and building the sense of belonging within their own institutional communities (Fernandes, Ford, Rayner & Pretorius; Kahu, Nelson, & Picton; McFarlane, Spes-Skrbis & Taib; Naylor; Smallhorn. Echoing his position on social justice and his advocacy for underserved students, Vincent reminds us that educational equity gaps still exist, and he encourages us to see the issue of persistence through the eyes of the students to support their perseverance and completion and thereby help reduce educational disadvantage.

  1. Persistent marine debris

    International Nuclear Information System (INIS)

    Levy, E.M.

    1992-01-01

    In this paper the distribution of persistent marine debris, adrift on world oceans and stranded on beaches globally, is reviewed and related to the known inputs and transport by the major surface currents. Since naturally occurring processes eventually degrade petroleum in the environment, international measures to reduce the inputs have been largely successful in alleviating oil pollution on a global, if not on a local, scale. Many plastics, however, are so resistant to natural degradation that merely controlling inputs will be insufficient, and more drastic and costly measures will be needed to cope with the emerging global problem posed by these materials

  2. Persistent postsurgical pain

    DEFF Research Database (Denmark)

    Werner, Mads Utke; Bischoff, Joakim Mutahi

    2014-01-01

    The prevalences of severe persistent postsurgical pain (PPP) following breast cancer surgery (BCS), groin hernia repair (GHR), and lung cancer surgery (LCS) are 13, 2, and 4-12 %, respectively. Estimates indicate that 80,000 patients each year in the U.S.A. are affected by severe pain...... duration of surgery, repeat surgery, more invasive surgical techniques, and intraoperative nerve lesion have been associated with PPP. One of the most consistent predictive factors for PPP is high intensity acute postsurgical pain, but also psychological factors including anxiety, catastrophizing trait...

  3. Term Structure Persistence

    OpenAIRE

    Abbritti, M. (Mirko); Gil-Alana, L.A. (Luis A.); Lovcha, Y. (Yuliya); Moreno, A. (Antonio)

    2012-01-01

    Stationary I(0) models employed in yield curve analysis typically imply an unrealistically low degree of volatility in long-run short-rate expectations due to fast mean reversion. In this paper we propose a novel multivariate affine term structure model with a two-fold source of persistence in the yield curve: Long-memory and short-memory. Our model, based on an I(d) specification, nests the I(0) and I(1) models as special cases and the I(0) model is decisively rejected by the data. Our model...

  4. Persistence of Salmonid Redds

    Science.gov (United States)

    Buffington, J. M.; Buxton, T.; Fremier, A. K.; Hassan, M. A.; Yager, E.

    2013-12-01

    The construction of redds by spawning salmonids modifies fluvial processes in ways that are beneficial to egg and embryo survival. Redd topography induces hyporheic flow that oxygenates embryos incubating within the streambed and creates form drag that reduces bed mobility and scour of salmonid eggs. Winnowing of fine material during redd construction also coarsens the streambed, increasing bed porosity and hyporheic flow and reducing bed mobility. In addition to the biological benefits, redds may influence channel morphology by altering channel hydraulics and bed load transport rates depending on the size and extent of redds relative to the size of the channel. A key question is how long do the physical and biological effects of redds last? Field observations indicate that in some basins redds are ephemeral, with redd topography rapidly erased by subsequent floods, while in other basins, redds can persist for years. We hypothesize that redd persistence is a function of basin hydrology, sediment supply, and characteristics of the spawning fish. Hydrology controls the frequency and magnitude of bed mobilizing flows following spawning, while bed load supply (volume and caliber) controls the degree of textural fining and consequent bed mobility after spawning, as well as the potential for burial of redd features. The effectiveness of flows in terms of their magnitude and duration depend on hydroclimate (i.e., snowmelt, rainfall, or transitional hydrographs), while bed load supply depends on basin geology, land use, and natural disturbance regimes (e.g., wildfire). Location within the stream network may also influence redd persistence. In particular, lakes effectively trap sediment and regulate downstream flow, which may promote long-lived redds in stream reaches below lakes. These geomorphic controls are modulated by biological factors: fish species (size of fish controls size of redds and magnitude of streambed coarsening); life history (timing of spawning and

  5. Persistence extends reciprocity.

    Science.gov (United States)

    Kurokawa, Shun

    2017-04-01

    One key potential explanation for the evolution of cooperation is conditional cooperation. This allows cooperation to evolve for cooperators who switch their behavior on the basis of information about the opponent's behavior or reputation. However, information about the opponent's behavior or reputation is sometimes unavailable, and previous studies have assumed that a player cooperates with some default probability when no information about the opponent's previous behavior or reputation is available. This default probability has been interpreted as the player's "optimism". Here, we make use of the fact that even if a player cannot observe the opponent's previous behavior or reputation, he may still condition his future behavior based on his own past behavior and in such a case, he can behave persistently. In this paper, we especially consider the case where information about the opponent's "behavior" is sometimes absent and the iterated prisoner's dilemma game between the same two individuals is played. Here, we examine the evolution of strategies that can refer to the own behavior in the previous round. Using evolutionarily stable strategy (ESS) analysis and analyzing replicator dynamics, we find that conditioning his future behavior based on his own past behavior is beneficial for the evolution. Persistence facilitates the evolution of cooperation. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Persistence of airline accidents.

    Science.gov (United States)

    Barros, Carlos Pestana; Faria, Joao Ricardo; Gil-Alana, Luis Alberiko

    2010-10-01

    This paper expands on air travel accident research by examining the relationship between air travel accidents and airline traffic or volume in the period from 1927-2006. The theoretical model is based on a representative airline company that aims to maximise its profits, and it utilises a fractional integration approach in order to determine whether there is a persistent pattern over time with respect to air accidents and air traffic. Furthermore, the paper analyses how airline accidents are related to traffic using a fractional cointegration approach. It finds that airline accidents are persistent and that a (non-stationary) fractional cointegration relationship exists between total airline accidents and airline passengers, airline miles and airline revenues, with shocks that affect the long-run equilibrium disappearing in the very long term. Moreover, this relation is negative, which might be due to the fact that air travel is becoming safer and there is greater competition in the airline industry. Policy implications are derived for countering accident events, based on competition and regulation. © 2010 The Author(s). Journal compilation © Overseas Development Institute, 2010.

  7. Development of gastric cancer in nonatrophic stomach with highly active inflammation identified by serum levels of pepsinogen and Helicobacter pylori antibody together with endoscopic rugal hyperplastic gastritis.

    Science.gov (United States)

    Watanabe, Mika; Kato, Jun; Inoue, Izumi; Yoshimura, Noriko; Yoshida, Takeichi; Mukoubayashi, Chizu; Deguchi, Hisanobu; Enomoto, Shotaro; Ueda, Kazuki; Maekita, Takao; Iguchi, Mikitaka; Tamai, Hideyuki; Utsunomiya, Hirotoshi; Yamamichi, Nobutake; Fujishiro, Mitsuhiro; Iwane, Masataka; Tekeshita, Tatsuya; Mohara, Osamu; Ushijima, Toshikazu; Ichinose, Masao

    2012-12-01

    This study aimed to elucidate groups at high risk of developing cancer among patients with serologically identified Helicobacter pylori infection and nonatrophic stomach. Annual endoscopy was performed for a mean of 5.4 years in 496 asymptomatic middle-aged men who were H. pylori antibody-positive and pepsinogen (PG) test-negative. Subjects were stratified according to the activity of H. pylori-associated gastritis measured by serum levels of PG and H. pylori antibody, and/or by endoscopic findings of rugal hyperplastic gastritis (RHG), and cancer development was investigated. During the study period, seven cases of cancer developed in the cohort (incidence rate, 261/100,000 person-years), with 85.7% developing in the group showing a PGI/II ratio ≤ 3.0, reflecting active inflammation-based high PGII levels. Cancer incidence was significantly higher in this group (750/100,000 person-years) than in groups with less active gastritis. Furthermore, cancer incidence for this group was significantly higher in the subgroup with high H. pylori antibody titers than in the low-titer subgroup. Meanwhile, endoscopic findings revealed that 11.7% of subjects showed RHG reflecting localized highly active inflammation, and cancer risk was significantly higher in patients with RHG than in patients without. Combining the two serum tests and endoscopic examination for RHG allowed identification of subjects with more active gastritis and higher cancer risk. No cancer development was observed in these high-risk subjects after H. pylori eradication. Subjects with highly active gastritis identified by the two serological tests and endoscopic RHG constitute a group at high risk of cancer development with H. pylori-infected nonatrophic stomach. Copyright © 2012 UICC.

  8. Caliber-Persistent Artery

    Directory of Open Access Journals (Sweden)

    Sabrina Araújo Pinho Costa

    2015-01-01

    Full Text Available Caliber-persistent artery (CPLA of the lip is a common vascular anomaly in which a main arterial branch extends to the surface of the mucous tissue with no reduction in its diameter. It usually manifests as pulsatile papule, is easily misdiagnosed, and is observed more frequently among older people, suggesting that its development may involve a degenerative process associated with aging; CPLA is also characterized by the loss of tone of the adjacent supporting connective tissue. Although the diagnosis is clinical, high-resolution Doppler ultrasound is a useful noninvasive tool for evaluating the lesion. This report describes the case of a 58-year-old male patient who complained of a lesion of the lower lip with bleeding and recurrent ulceration. The patient was successfully treated in our hospital after a diagnosis of CPLA and is currently undergoing a clinical outpatient follow-up with no complaints.

  9. An annoying persistent cough

    Directory of Open Access Journals (Sweden)

    Francesco Cipollini

    2007-03-01

    Full Text Available Chronic cough is a stressful condition and can lead to extensive investigations. We report a case of a 48-year-old woman who had suffered from persistent chronic cough for more than 3 months. She had been treated with cough suppressant. However, her cough was not alleviated by these treatments, and the patient was referred to our hospital. She did not exhibit typical gastroesophageal reflux disease (GERD symptoms heartburn and regurgitation. Esophagoscopy did not disclose reflux esophagitis. The patient was treated with a proton-pump inhibitor, which markedly alleviated her cough. Chronic cough due to GERD was diagnosed. Although the diagnosis of chronic cough due to GERD is not easy when traditionally symptoms are not present, our case report underscores the importance of this association to the differential diagnosis of chronic cough. In these cases a relatively simple test as high dose proton pump-inhibitors trial may be useful to confirm GERD related cough.

  10. New daily persistent headache

    Directory of Open Access Journals (Sweden)

    Alok Tyagi

    2012-01-01

    Full Text Available New daily persistent headache (NDPH is a chronic headache developing in a person who does not have a past history of headaches. The headache begins acutely and reaches its peak within 3 days. It is important to exclude secondary causes, particularly headaches due to alterations in cerebrospinal fluid (CSF pressure and volume. A significant proportion of NDPH sufferers may have intractable headaches that are refractory to treatment. The condition is best viewed as a syndrome rather than a diagnosis. The headache can mimic chronic migraine and chronic tension-type headache, and it is also important to exclude secondary causes, particularly headaches due to alterations in CSF pressure and volume. A large proportion of NDPH sufferers have migrainous features to their headache and should be managed with treatments used for treating migraine. A small group of NDPH sufferers may have intractable headaches that are refractory to treatment.

  11. Persistent idiopathic facial pain

    DEFF Research Database (Denmark)

    Maarbjerg, Stine; Wolfram, Frauke; Heinskou, Tone Bruvik

    2017-01-01

    Introduction: Persistent idiopathic facial pain (PIFP) is a poorly understood chronic orofacial pain disorder and a differential diagnosis to trigeminal neuralgia. To address the lack of systematic studies in PIFP we here report clinical characteristics and neuroimaging findings in PIFP. Methods...... pain 7 (13%), hypoesthesia 23 (48%), depression 16 (30%) and other chronic pain conditions 17 (32%) and a low prevalence of stabbing pain 21 (40%), touch-evoked pain 14 (26%) and remission periods 10 (19%). The odds ratio between neurovascular contact and the painful side was 1.4 (95% Cl 0.4–4.4, p = 0.......565) and the odds ratio between neurovascular contact with displacement of the trigeminal nerve and the painful side was 0.2 (95% Cl 0.0–2.1, p = 0.195). Conclusion: PIFP is separated from trigeminal neuralgia both with respect to the clinical characteristics and neuroimaging findings, as NVC was not associated...

  12. Persistent Aerial Tracking

    KAUST Repository

    Mueller, Matthias

    2016-04-13

    In this thesis, we propose a new aerial video dataset and benchmark for low altitude UAV target tracking, as well as, a photo-realistic UAV simulator that can be coupled with tracking methods. Our benchmark provides the rst evaluation of many state of-the-art and popular trackers on 123 new and fully annotated HD video sequences captured from a low-altitude aerial perspective. Among the compared trackers, we determine which ones are the most suitable for UAV tracking both in terms of tracking accuracy and run-time. We also present a simulator that can be used to evaluate tracking algorithms in real-time scenarios before they are deployed on a UAV "in the field", as well as, generate synthetic but photo-realistic tracking datasets with free ground truth annotations to easily extend existing real-world datasets. Both the benchmark and simulator will be made publicly available to the vision community to further research in the area of object tracking from UAVs. Additionally, we propose a persistent, robust and autonomous object tracking system for unmanned aerial vehicles (UAVs) called Persistent Aerial Tracking (PAT). A computer vision and control strategy is applied to a diverse set of moving objects (e.g. humans, animals, cars, boats, etc.) integrating multiple UAVs with a stabilized RGB camera. A novel strategy is employed to successfully track objects over a long period, by \\'handing over the camera\\' from one UAV to another. We integrate the complete system into an off-the-shelf UAV, and obtain promising results showing the robustness of our solution in real-world aerial scenarios.

  13. Silencing of reversion-inducing cysteine-rich protein with Kazal motifs stimulates hyperplastic phenotypes through activation of epidermal growth factor receptor and hypoxia-inducible factor-2α.

    Directory of Open Access Journals (Sweden)

    You Mie Lee

    Full Text Available Reversion-inducing cysteine-rich protein with Kazal motifs (RECK, a tumor suppressor is down-regulated by the oncogenic signals and hypoxia, but the biological function of RECK in early tumorigenic hyperplastic phenotypes is largely unknown. Knockdown of RECK by small interfering RNA (siRECK or hypoxia significantly promoted cell proliferation in various normal epithelial cells. Hypoxia as well as knockdown of RECK by siRNA increased the cell cycle progression, the levels of cyclin D1 and c-Myc, and the phosphorylation of Rb protein (p-pRb, but decreased the expression of p21(cip1, p27(kip1, and p16(ink4A. HIF-2α was upregulated by knockdown of RECK, indicating HIF-2α is a downstream target of RECK. As knockdown of RECK induced the activation of epidermal growth factor receptor (EGFR and treatment of an EGFR kinase inhibitor, gefitinib, suppressed HIF-2α expression induced by the silencing of RECK, we can suggest that the RECK silenicng-EGFR-HIF-2α axis might be a key molecular mechanism to induce hyperplastic phenotype of epithelial cells. It was also found that shRNA of RECK induced larger and more numerous colonies than control cells in an anchorage-independent colony formation assay. Using a xenograft assay, epithelial cells with stably transfected with shRNA of RECK formed a solid mass earlier and larger than those with control cells in nude mice. In conclusion, the suppression of RECK may promote the development of early tumorigenic hyperplastic characteristics in hypoxic stress.

  14. Persistent homology of complex networks

    International Nuclear Information System (INIS)

    Horak, Danijela; Maletić, Slobodan; Rajković, Milan

    2009-01-01

    Long-lived topological features are distinguished from short-lived ones (considered as topological noise) in simplicial complexes constructed from complex networks. A new topological invariant, persistent homology, is determined and presented as a parameterized version of a Betti number. Complex networks with distinct degree distributions exhibit distinct persistent topological features. Persistent topological attributes, shown to be related to the robust quality of networks, also reflect the deficiency in certain connectivity properties of networks. Random networks, networks with exponential connectivity distribution and scale-free networks were considered for homological persistency analysis

  15. Rarity and persistence.

    Science.gov (United States)

    Vermeij, Geerat J; Grosberg, Richard K

    2018-01-01

    Rarity is a population characteristic that is usually associated with a high risk of extinction. We argue here, however, that chronically rare species (those with low population densities over many generations across their entire ranges) may have individual-level traits that make populations more resistant to extinction. The major obstacle to persistence at low density is successful fertilisation (union between egg and sperm), and chronically rare species are more likely to survive when (1) fertilisation occurs inside or close to an adult, (2) mate choice involves long-distance signals, (3) adults or their surrogate gamete dispersers are highly mobile, or (4) the two sexes are combined in a single individual. In contrast, external fertilisation and wind- or water-driven passive dispersal of gametes, or sluggish or sedentary adult life habits in the absence of gamete vectors, appear to be incompatible with sustained rarity. We suggest that the documented increase in frequency of these traits among marine genera over geological time could explain observed secular decreases in rates of background extinction. Unanswered questions remain about how common chronic rarity actually is, which traits are consistently associated with chronic rarity, and how chronically rare species are distributed among taxa, and among the world's ecosystems and regions. © 2017 John Wiley & Sons Ltd/CNRS.

  16. EPITHELIAL HYPERPLASTIC LARYNGEAL LESIONS: AN OVERVIEW OF RESEARCH WORK IN SLOVENIA AND FURTHER PROSPECTS DEDICATED TO THE MEMORY OF PROFESSOR VINKO KAMBIČ

    Directory of Open Access Journals (Sweden)

    Nina Gale

    2002-12-01

    Full Text Available The article, dedicated to the memory of Professor Vinko Kambič, provides a review of research work on epithelial hyperplastic laryngeal lesions (EHLL in Slovenia. It is largely thanks to Professor Kambič, who recognized the importance of these challenging problems in laryngology more than three decades ago and studied them systematically throughout his long professional career. His views on etiology, histomorphologic classification with terminological problems and modalities of treatment of EHLL, have been published worldwide, internationally accepted and supported by the European Society of Pathology.Among his greatest achievements, an original histologic grading system of EHLL, the Kambič-Lenart classification, has to be highlighted. The classification, which was further supplemented by the members of the Working group on EHLL of the European Society of Pathology in 1997 and renamed the Ljubljana classification, was devised to cater to specific laryngeal issues. This grading system has been found to be more precise for daily diagnostic work than other classifications and provides data closely correlated to the biological behaviour of the lesions. The results confirm that the central focus of the Ljubljana classification is atypical (or risky epithelium. For practical purposes, the Ljubljana classification has been based solely on pathohistological criteria of traditional light microscopy. However, for diagnostically difficult cases and when the biological behaviour of recurrent precancerous lesions is to be assessed, additional sophisticated techniques can be of help. Professor Kambič’s team of collaborators owes him a debt of sincere thanks for his long years of teaching, watchful guidance of scientific work, and sincere friendship. With the deepest sense of appreciation for what Professor Kambič did for the development, progress and international recognition of the entire research work of EHLL in Slovenia, we will certainly continue

  17. The persistence of depression score

    NARCIS (Netherlands)

    Spijker, J.; de Graaf, R.; Ormel, J.; Nolen, W. A.; Grobbee, D. E.; Burger, H.

    2006-01-01

    Objective: To construct a score that allows prediction of major depressive episode (MDE) persistence in individuals with MDE using determinants of persistence identified in previous research. Method: Data were derived from 250 subjects from the general population with new MDE according to DSM-III-R.

  18. Persistence, resistance, resonance

    Science.gov (United States)

    Tsadka, Maayan

    form of musical consumption and experience. The three pieces draw lines connecting different aspects of persistence, resistance, and resonance.

  19. Role of Nox2 and p22phox in Persistent Postoperative Hypertension in Aldosterone-Producing Adenoma Patients after Adrenalectomy

    Directory of Open Access Journals (Sweden)

    Xiaojing Geng

    2016-01-01

    Full Text Available Adrenal aldosterone-producing adenoma (APA, producing the salt-retaining hormone aldosterone, commonly causes secondary hypertension, which often persists after unilateral adrenalectomy. Although persistent hypertension was correlated with residual hormone aldosterone, the in vivo mechanism remains unclear. NADPH oxidase is the critical cause of aldosterone synthesis in vitro. Nox2 and p22phox comprise the NADPH oxidase catalytic core, serving to initiate a reactive oxygen species (ROS cascade that may participate in the pathology. mRNAs of seven NADPH oxidase isoforms in APA were evaluated by RT-PCR and Q-PCR and their proteins by immunohistochemistry and Western blotting. NADPH oxidase activity was also detected. Nox2 and p22phox were especially abundant in APA. Particularly higher Nox2 and p22phox gene and protein levels were seen in APA than controls. Significant correlations between Nox2 mRNA and aldosterone synthase (CYP11B2 mRNA (R=0.66, P<0.01 and Nox2 protein and baseline plasma aldosterone concentration (PAC (R=0.503, P<0.01 were detected in APA; however, none were found between p22phox mRNA, CYP11B2 mRNA, p22phox protein, and baseline PAC. Importantly, we found that Nox2 localized specifically in hyperplastic zona glomerulosa cells. In conclusion, our results highlight that Nox2 and p22phox may be directly involved in pathological aldosterone production and zona glomerulosa cell proliferation after APA resection.

  20. Teriparatide Induced Delayed Persistent Hypercalcemia

    Directory of Open Access Journals (Sweden)

    Nirosshan Thiruchelvam

    2014-01-01

    Full Text Available Teriparatide, a recombinant PTH, is an anabolic treatment for osteoporosis that increases bone density. Transient hypercalcemia is a reported side effect of teriparatide that is seen few hours following administration of teriparatide and resolves usually within 16 hours of drug administration. Persistent hypercalcemia, although not observed in clinical trials, is rarely reported. The current case describes a rare complication of teriparatide induced delayed persistent hypercalcemia.

  1. Persistence in the Cryptocurrency Market

    OpenAIRE

    Caporale, Guglielmo Maria; Gil-Alaña, Luis A.; Plastun, Alex

    2017-01-01

    This paper examines persistence in the cryptocurrency market. Two different long-memory methods (R/S analysis and fractional integration) are used to analyse it in the case of the four main cryptocurrencies (BitCoin, LiteCoin, Ripple, Dash) over the sample period 2013-2017. The findings indicate that this market exhibits persistence (there is a positive correlation between its past and future values), and that its degree changes over time. Such predictability represents evidence of market ine...

  2. Missed diagnosis-persistent delirium

    Directory of Open Access Journals (Sweden)

    Aseem Mehra

    2014-01-01

    Full Text Available Delirium is in general considered as an acute short lasting reversible neuropsychiatric syndrome. However, there is some evidence to suggest that in a small proportion of cases delirium may be a chronic or persistent condition. However, making this diagnosis requires clinical suspicion and ruling other differential diagnosis. In this report, we present a case of a 55-year-old man who had cognitive symptoms, psychotic symptoms and depressive symptoms along with persistent hypokalemia and glucose intolerance. He was seen by 3 psychiatrists with these symptoms and was initially diagnosed as having depressive disorder and later diagnosis of bipolar affective disorder (current episode mania, and psychosis were considered by the third psychiatrist. However, despite the presence of persistent neurocognitive deficits, evening worsening of symptoms, hypokalemia and glucose intolerance diagnosis of delirium was not suspected.

  3. Energy Savings Lifetimes and Persistence

    Energy Technology Data Exchange (ETDEWEB)

    Hoffman, Ian M. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Schiller, Steven R. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Todd, Annika [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Billingsley, Megan A. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Goldman, Charles A. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Schwartz, Lisa C. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)

    2016-02-01

    This technical brief explains the concepts of energy savings lifetimes and savings persistence and discusses how program administrators use these factors to calculate savings for efficiency measures, programs and portfolios. Savings lifetime is the length of time that one or more energy efficiency measures or activities save energy, and savings persistence is the change in savings throughout the functional life of a given efficiency measure or activity. Savings lifetimes are essential for assessing the lifecycle benefits and cost effectiveness of efficiency activities and for forecasting loads in resource planning. The brief also provides estimates of savings lifetimes derived from a national collection of costs and savings for electric efficiency programs and portfolios.

  4. Persistence Mechanisms of Conjugative Plasmids

    DEFF Research Database (Denmark)

    Bahl, Martin Iain; Hansen, Lars H.; Sørensen, Søren Johannes

    2009-01-01

    Are plasmids selfish parasitic DNA molecules or an integrated part of the bacterial genome? This chapter reviews the current understanding of the persistence mechanisms of conjugative plasmids harbored by bacterial cells and populations. The diversity and intricacy of mechanisms affecting the suc...

  5. On persistently positively expansive maps

    Directory of Open Access Journals (Sweden)

    Alexander Arbieto

    2010-06-01

    Full Text Available In this paper, we prove that any C¹-persistently positively expansive map is expanding. This improves a result due to Sakai (Sakai 2004.Neste artigo, mostramos que todo mapa C¹-persistentemente positivamente expansivo e expansor. Isto melhora um resultado devido a Sakai (Sakai 2004.

  6. Persistence

    DEFF Research Database (Denmark)

    Hansen, Kis Boisen

    2012-01-01

    The note shows an example of an architure for buildin g stand-alone program, where the programming language is object oriented and the databas system is a relational database system. Together with the notes is an example program.......The note shows an example of an architure for buildin g stand-alone program, where the programming language is object oriented and the databas system is a relational database system. Together with the notes is an example program....

  7. Search along persistent random walks

    International Nuclear Information System (INIS)

    Friedrich, Benjamin M

    2008-01-01

    Optimal search strategies and their implementations in biological systems are a subject of active research. Here we study a search problem which is motivated by the hunt of sperm cells for the egg. We ask for the probability for an active swimmer to find a target under the condition that the swimmer starts at a certain distance from the target. We find that success probability is maximal for a certain level of fluctuations characterized by the persistence length of the swimming path of the swimmer. We derive a scaling law for the optimal persistence length as a function of the initial target distance and search time by mapping the search on a polymer physics problem

  8. Is Farm Management Skill Persistent?

    OpenAIRE

    Li, Xin; Paulson, Nicholas

    2014-01-01

    Farm management skills can affect farm managers' performance. In this article, farm management performance is analyzed based on yearly Illinois Farm Business Farm Management (FBFM) panel data across 6,760 farms from 1996 through 2011. Two out-of-sample measures of skill are used to analyze the ability of farm managers that consistently perform well over yearly and longer time horizons. Persistence tests show management skills are consistent and predictable. Results also suggest that the most ...

  9. Persistent Authentication in Smart Environments

    DEFF Research Database (Denmark)

    Hansen, Mads Syska; Kirschmeyer, Martin; Jensen, Christian D.

    2008-01-01

    present a proof-of-concept implementation of the proposed mechanism, which employs camera based tracking with a single stationary 3D camera that uses the "time of flight" principle. A preliminary evaluation of the proposed mechanism indicates that persistent authentication is technically possible...... with the proposed hardware. The proposed model is sufficiently general to allow the addition of more cameras or supplemental tracking technologies, which will improve the robustness and scalability of the proposed mechanism....

  10. Long memory and changing persistence

    DEFF Research Database (Denmark)

    Kruse, Robinson; Sibbertsen, Philipp

    We study the empirical behaviour of semi-parametric log-periodogram estimation for long memory models when the true process exhibits a change in persistence. Simulation results confirm theoretical arguments which suggest that evidence for long memory is likely to be found. A recently proposed test...... by Sibbertsen and Kruse (2009) is shown to exhibit noticeable power to discriminate between long memory and a structural change in autoregressive parameters....

  11. How persistent is civilization growth?

    OpenAIRE

    Garrett, Timothy J.

    2011-01-01

    In a recent study (Garrett, 2011), I described theoretical arguments and empirical evidence showing how civilization evolution might be considered from a purely physical basis. One implication is that civilization exhibits the property of persistence in its growth. Here, this argument is elaborated further, and specific near-term forecasts are provided for key economic variables and anthropogenic CO2 emission rates at global scales. Absent some external shock, civilization wealth, energy cons...

  12. Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia.

    Science.gov (United States)

    Wong, Jasmine C Y; Alon, Noa; Mckerlie, Colin; Huang, Jun R; Meyn, M Stephen; Buchwald, Manuel

    2003-08-15

    Fanconi Anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents. Recent studies suggest that FA proteins share a common pathway with BRCA proteins. To study the in vivo role of the FA group A gene (Fanca), gene-targeting techniques were used to generate Fanca(tm1Hsc) mice in which Fanca exons 1-6 were replaced by a beta-galactosidase reporter construct. Fanca(tm1.1Hsc) mice were generated by Cre-mediated removal of the neomycin cassette in Fanca(tm1Hsc) mice. Fanca(tm1.1Hsc) homozygotes display FA-like phenotypes including growth retardation, microphthalmia and craniofacial malformations that are not found in other Fanca mouse models, and the genetic background affects manifestation of certain phenotypes. Both male and female mice homozygous for Fanca mutation exhibit hypogonadism, and homozygous females demonstrate premature reproductive senescence and an increased incidence of ovarian cysts. We showed that fertility defects in Fanca(tm1.1Hsc) homozygotes might be related to a diminished population of primordial germ cells (PGCs) during migration into the gonadal ridges. We also found a high level of Fanca expression in pachytene spermatocytes. Fanca(tm1Hsc) homozygous males exhibited an elevated frequency of mispaired meiotic chromosomes and increased apoptosis in germ cells, implicating a role for Fanca in meiotic recombination. However, the localization of Rad51, Brca1, Fancd2 and Mlh1 appeared normal on Fanca(tm1Hsc) homozygous meiotic chromosomes. Taken together, our results suggest that the FA pathway plays a role in the maintenance of reproductive germ cells and in meiotic recombination.

  13. The role of metabolism in bacterial persistence

    Directory of Open Access Journals (Sweden)

    Stephanie M. Amato

    2014-03-01

    Full Text Available Bacterial persisters are phenotypic variants with extraordinary tolerances toward antibiotics. Persister survival has been attributed to inhibition of essential cell functions during antibiotic stress, followed by reversal of the process and resumption of growth upon removal of the antibiotic. Metabolism plays a critical role in this process, since it participates in the entry, maintenance, and exit from the persister phenotype. Here, we review the experimental evidence that demonstrates the importance of metabolism to persistence, highlight the successes and potential for targeting metabolism in the search for anti-persister therapies, and discuss the current methods and challenges to understand persister physiology.

  14. MOOCs and Persistence: Definitions and Predictors

    Science.gov (United States)

    Evans, Brent J.; Baker, Rachel B.

    2016-01-01

    The chapter argues for redefining the term "persistence" as it relates to MOOCs and considers how different measures produce different results in the research; it closes with a review of research on persistence in MOOCs.

  15. Persistence and drug tolerance in pathogenic yeast

    DEFF Research Database (Denmark)

    Bojsen, Rasmus Kenneth; Regenberg, Birgitte; Folkesson, Sven Anders

    2017-01-01

    In this review, we briefly summarize the current understanding of how fungal pathogens can persist antifungal treatment without heritable resistance mutations by forming tolerant persister cells. Fungal infections tolerant to antifungal treatment have become a major medical problem. One mechanism...

  16. Physical trust-based persistent authentication

    DEFF Research Database (Denmark)

    Fujita, Masahiro; Jensen, Christian D.; Arimura, Shiori

    2015-01-01

    propose a new type of persistent authentication, called Persistent Authentication Based On physical Trust (PABOT). PABOT uses a context of “physical trust relationship” that is built by visual contact between users, and thus can offer a persistent authentication mechanism with better usability and higher...

  17. Distributed Persistent Identifiers System Design

    Directory of Open Access Journals (Sweden)

    Pavel Golodoniuc

    2017-06-01

    Full Text Available The need to identify both digital and physical objects is ubiquitous in our society. Past and present persistent identifier (PID systems, of which there is a great variety in terms of technical and social implementation, have evolved with the advent of the Internet, which has allowed for globally unique and globally resolvable identifiers. PID systems have, by in large, catered for identifier uniqueness, integrity, and persistence, regardless of the identifier’s application domain. Trustworthiness of these systems has been measured by the criteria first defined by Bütikofer (2009 and further elaborated by Golodoniuc 'et al'. (2016 and Car 'et al'. (2017. Since many PID systems have been largely conceived and developed by a single organisation they faced challenges for widespread adoption and, most importantly, the ability to survive change of technology. We believe that a cause of PID systems that were once successful fading away is the centralisation of support infrastructure – both organisational and computing and data storage systems. In this paper, we propose a PID system design that implements the pillars of a trustworthy system – ensuring identifiers’ independence of any particular technology or organisation, implementation of core PID system functions, separation from data delivery, and enabling the system to adapt for future change. We propose decentralisation at all levels — persistent identifiers and information objects registration, resolution, and data delivery — using Distributed Hash Tables and traditional peer-to-peer networks with information replication and caching mechanisms, thus eliminating the need for a central PID data store. This will increase overall system fault tolerance thus ensuring its trustworthiness. We also discuss important aspects of the distributed system’s governance, such as the notion of the authoritative source and data integrity

  18. Observations on human smooth muscle cell cultures from hyperplastic lesions of prosthetic bypass grafts: Production of a platelet-derived growth factor-like mitogen and expression of a gene for a platelet-derived growth factor receptor--a preliminary study

    International Nuclear Information System (INIS)

    Birinyi, L.K.; Warner, S.J.; Salomon, R.N.; Callow, A.D.; Libby, P.

    1989-01-01

    Prosthetic bypass grafts placed to the distal lower extremity often fail because of an occlusive tissue response in the perianastomotic region. The origin of the cells that comprise this occlusive lesion and the causes of the cellular proliferation are not known. To increase our understanding of this process we cultured cells from hyperplastic lesions obtained from patients at the time of reexploration for lower extremity graft failure, and we studied their identity and growth factor production in tissue culture. These cultures contain cells that express muscle-specific actin isoforms, shown by immunohistochemical staining, consistent with vascular smooth muscle origin. These cultures also released material that stimulated smooth muscle cell growth. A portion of this activity was similar to platelet-derived growth factor, since preincubation with antibody-to-human platelet-derived growth factor partially blocked the mitogenic effect of medium conditioned by human anastomotic hyperplastic cells. These conditioned media also contained material that competed with platelet-derived growth factor for its receptor, as measured in a radioreceptor assay. Northern blot analysis showed that these cells contain messenger RNA that encodes the A chain but not the B chain of platelet-derived growth factor. In addition, these cells contain messenger RNA that encodes a platelet-derived growth factor receptor. We conclude that cultured smooth muscle cells from human anastomotic hyperplastic lesions express genes for platelet-derived growth factor A chain and a platelet-derived growth factor receptor and secrete biologically active molecules similar to platelet-derived growth factor

  19. New-found fundamentals of bacterial persistence.

    Science.gov (United States)

    Kint, Cyrielle I; Verstraeten, Natalie; Fauvart, Maarten; Michiels, Jan

    2012-12-01

    Persister cells display tolerance to high doses of bactericidal antibiotics and typically comprise a small fraction of a bacterial population. Recently, evidence was provided for a causal link between therapy failure and the presence of persister cells in chronic infections, underscoring the need for research on bacterial persistence. A series of recent breakthroughs have shed light on the multiplicity of persister genes, the contribution of gene expression noise to persister formation, the importance of active responses to antibiotic tolerance and heterogeneity among persister cells. Moreover, the development of in vivo model systems has highlighted the clinical relevance of persistence. This review discusses these recent advances and how this knowledge fundamentally changes the way in which we will perceive the problem of antibiotic tolerance in years to come. Copyright © 2012 Elsevier Ltd. All rights reserved.

  20. Persistent cough in an adolescent.

    Science.gov (United States)

    Stein, M T; Harper, G; Chen, J

    1999-12-01

    Jessica, a 14-year-old girl with a history of asthma, went to her pediatrician's office because of a persistent cough. She had been coughing for at least 3 months with occasional cough-free periods of less than a few days. The cough was nonproductive and was not accompanied by fever, rhinorrhea, or facial or chest pain. Jessica and her mother observed that the cough increased with exercise and typically was not present during sleep. She has used two metered-dose inhalers--albuterol and cromolyn--without any change in the cough pattern. For the past 5 years, Jessica has had mild asthma responsive to albuterol. She enjoys running on the cross-country team, soccer, and dancing. She is an average student and denies any change in academic performance. She has never been hospitalized or had an emergency department visit for asthma or pneumonia. There has been no recent travel or exposure to a person with a chronic productive cough, tobacco smoke, or a live-in pet. Jessica lives with her mother and younger sister in a 10-year-old, carpeted apartment without any evidence of mold or recent renovation. In the process of taking the history, the pediatrician noticed that Jessica coughed intermittently, with two or three coughs during each episode. At times, the cough was harsh; at other times, it was a quiet cough, as if she were clearing her throat. She was cooperative, without overt anxiety or respiratory distress. After a complete physical examination with normal findings, the pediatrician interviewed Jessica and her mother alone. Jessica's parents had been divorced for the past 6 years. She lived with her mother but visited her father, and his new family with two young children, every weekend. She spoke about this arrangement comfortably and said that she loved her father and mother but didn't like the tension she experienced at her father's home. "I don't like adults arguing when kids are around." When asked why she thought the cough persisted so long, she commented in a

  1. Persistent homology and string vacua

    Energy Technology Data Exchange (ETDEWEB)

    Cirafici, Michele [Center for Mathematical Analysis, Geometry and Dynamical Systems,Instituto Superior Técnico, Universidade de Lisboa,Av. Rovisco Pais, 1049-001 Lisboa (Portugal); Institut des Hautes Études Scientifiques,Le Bois-Marie, 35 route de Chartres, F-91440 Bures-sur-Yvette (France)

    2016-03-08

    We use methods from topological data analysis to study the topological features of certain distributions of string vacua. Topological data analysis is a multi-scale approach used to analyze the topological features of a dataset by identifying which homological characteristics persist over a long range of scales. We apply these techniques in several contexts. We analyze N=2 vacua by focusing on certain distributions of Calabi-Yau varieties and Landau-Ginzburg models. We then turn to flux compactifications and discuss how we can use topological data analysis to extract physical information. Finally we apply these techniques to certain phenomenologically realistic heterotic models. We discuss the possibility of characterizing string vacua using the topological properties of their distributions.

  2. Coping with persistent environmental problems

    DEFF Research Database (Denmark)

    Varjopuro, Riku; Andrulewicz, Eugeniusz; Brandt, Urs Steiner

    2014-01-01

    to a decision to taking action and several years further for actual implementation. Ecosystem responses to measures illustrate that feedback can keep the ecosystem in a certain state and cause a delay in ecosystem response. These delays can operate on decadal scales. Our aim in this paper...... involved in the implementation are keys to improve understanding of the systemic delays. The improved understanding is necessary for the adaptive management of a persistent environmental problem. In addition to the state of the environment, the monitoring and analysis should be targeted also......; (2) implementation delay: the time from the launch of a policy to the actual implementation; (3) ecosystem delay: the time difference between the implementation and an actual measurable effects. A policy process is one characterized by delays. It may take years from problem identification...

  3. Persistence of antimuscarinic drug use

    DEFF Research Database (Denmark)

    Brostrøm, Søren; Hallas, Jesper

    2009-01-01

    PURPOSE: Evidence suggests antimuscarinic drugs for the overactive-bladder syndrome only confer modest improvements in quality of life. We wanted to describe the persistence of therapy, including an extended analysis beyond the 1-year follow-up employed in other studies. METHODS: All prescriptions...... for drugs in ATC category G04BD were retrieved for the period 1999-2006 from a regional database with complete capture of all reimbursed prescriptions. Kaplan-Meyer curves were generated for duration of treatment for each substance and analyzed for determinants of termination. RESULTS: With the exception...... of trospium chloride, all drugs had continuation rates of less than 50% at 6 months, less than 25% at 1 year, and less than 10% at 2 years and longer. Trospium chloride, however, exhibited continuation rates of 46% at 6 months, 36% at 1 year, 22% at 2 years, and 16% at 3 years. CONCLUSIONS: In a setting...

  4. Dematerialization: Variety, caution, and persistence.

    Science.gov (United States)

    Ausubel, Jesse H; Waggoner, Paul E

    2008-09-02

    Dematerialization, represented by declining consumption per GDP of energy or of goods, offers some hope for rising environmental quality with development. The declining proportion of income spent on staples as affluence grows, which income elasticity <1.0 measures, makes dematerialization widespread. Further, as learning improves efficiency of resource use, the intensity of environmental impact per production of staples often declines. We observe that combinations of low income elasticity for staples and of learning by producers cause a variety of dematerializations and declining intensities of impact, from energy use and carbon emission to food consumption and fertilizer use, globally and in countries ranging from the United States and France to China, India, Brazil, and Indonesia. Because dematerialization and intensity of impact are ratios of parameters that may be variously defined and are sometimes difficult to estimate, their fluctuations must be interpreted cautiously. Nevertheless, substantial declining intensity of impact, and especially, dematerialization persisted between 1980 and 2006.

  5. Persistence of stapedial artery: a case report

    International Nuclear Information System (INIS)

    Carvalho, Bruna Vilaca de; Gaiotti, Juliana Oggioni; Diniz, Renata Lopes Furletti Caldeira; Ribeiro, Marcelo Almeida; Motta, Emilia Guerra Pinto Coelho; Moreira, Wanderval

    2013-01-01

    Persistent stapedial artery is a rare congenital anomaly that occurs by a failure in the involution of such artery. Most patients with persistent stapedial artery are asymptomatic. The imaging diagnosis is made principally by means of multidetector computed tomography. In the present case, persistent stapedial artery was an incidental computed tomography finding. The authors discuss the embryogenesis, computed tomography findings and the importance of an early diagnosis of such anomaly. (author)

  6. Dualities in persistent (co)homology

    International Nuclear Information System (INIS)

    De Silva, Vin; Morozov, Dmitriy; Vejdemo-Johansson, Mikael

    2011-01-01

    We consider sequences of absolute and relative homology and cohomology groups that arise naturally for a filtered cell complex. We establish algebraic relationships between their persistence modules, and show that they contain equivalent information. We explain how one can use the existing algorithm for persistent homology to process any of the four modules, and relate it to a recently introduced persistent cohomology algorithm. We present experimental evidence for the practical efficiency of the latter algorithm

  7. Drought Persistence Errors in Global Climate Models

    Science.gov (United States)

    Moon, H.; Gudmundsson, L.; Seneviratne, S. I.

    2018-04-01

    The persistence of drought events largely determines the severity of socioeconomic and ecological impacts, but the capability of current global climate models (GCMs) to simulate such events is subject to large uncertainties. In this study, the representation of drought persistence in GCMs is assessed by comparing state-of-the-art GCM model simulations to observation-based data sets. For doing so, we consider dry-to-dry transition probabilities at monthly and annual scales as estimates for drought persistence, where a dry status is defined as negative precipitation anomaly. Though there is a substantial spread in the drought persistence bias, most of the simulations show systematic underestimation of drought persistence at global scale. Subsequently, we analyzed to which degree (i) inaccurate observations, (ii) differences among models, (iii) internal climate variability, and (iv) uncertainty of the employed statistical methods contribute to the spread in drought persistence errors using an analysis of variance approach. The results show that at monthly scale, model uncertainty and observational uncertainty dominate, while the contribution from internal variability is small in most cases. At annual scale, the spread of the drought persistence error is dominated by the statistical estimation error of drought persistence, indicating that the partitioning of the error is impaired by the limited number of considered time steps. These findings reveal systematic errors in the representation of drought persistence in current GCMs and suggest directions for further model improvement.

  8. Translating Romans: some persistent headaches

    Directory of Open Access Journals (Sweden)

    A.B. du Toit

    2010-07-01

    Full Text Available Translating Romans: some persistent headaches Gone are the days when it was axiomatic that expertise in biblical languages automatically qualified one as a Bible translator. In 1949, Ronald Knox, who for nine years conscientiously struggled with translating the Bible for his generation, published a booklet under the title The trials of a translator. At that stage Bible translation as the subject of scientific study was still in its infancy. Since then, research into the intricacies of communicating the biblical message in an authentic but understandable manner, has made significant progress (cf. Roberts, 2009. However, the frustrations of Bible translators, first of all to really understand what the biblical authors wanted to convey to their original addressees, and then to commu-nicate that message to their own targeted readers in a meaningful way, have not disappeared. In fact, the challenge to meet the vary-ing requirements of the multiple kinds of translation that are present-ly in vogue, has only increased.

  9. Energy savings: persuasion and persistence

    Energy Technology Data Exchange (ETDEWEB)

    Eijadi, David; McDougall, Tom; Leaf, Kris; Douglas, Jim; Steinbock, Jason; Reimer, Paul [The Weidt Group, Minnetonka, MN (United States); Gauthier, Julia [Xcel Energy, Minneapolis, MN (United States); Wild, Doug; Richards McDaniel, Stephanie [BWBR Architects, Inc., Saint Paul, MN (United States)

    2005-07-01

    In this study, the architects, sponsoring utility and energy simulation specialist joined together to investigate the persistence of energy savings in three completed projects: a college library; a municipal transportation facility; and a hospital. The primary question being 'How well did the design decisions made with the help of simulation analysis translate into building operations over several years?' Design simulation and metered performance data are compared for specific energy-saving strategies. The paper provides a brief overview of the basis of selection of the three projects, the energy design assistance methods employed and the decisions made, along with their savings expectations. For each case, design characteristics, modelling assumptions, selected strategies and actual metered performance are outlined. We find evidence of appropriate levels of energy conservation, but they are not the absolute values predicted. In each case, the discrepancies between modelling assumptions and final construction or operating procedures are identified, examined and rectified. The paper illustrates that while owners are saving energy, they are not always getting the full savings potential for what they install. The paper concludes with a re-examination of the overall process. It evaluates the potential for additional savings of individual technologies and related larger utility incentives to design teams and building owners.

  10. Intravoxel incoherent motion diffusion-weighted magnetic resonance imaging of focal vertebral bone marrow lesions: initial experience of the differentiation of nodular hyperplastic hematopoietic bone marrow from malignant lesions

    Energy Technology Data Exchange (ETDEWEB)

    Park, Sunghoon; Kwack, Kyu-Sung; Kim, Jae Ho [Ajou University School of Medicine, Division of Musculoskeletal Radiology, Department of Radiology, Suwon, Gyeonggi-do (Korea, Republic of); Ajou University Medical Center, Musculoskeletal Imaging Laboratory, Suwon (Korea, Republic of); Chung, Nam-Su [Ajou University School of Medicine, Department of Orthopaedic Surgery, Suwon (Korea, Republic of); Hwang, Jinwoo [Philips Healthcare, Department of Clinical Science, Seoul (Korea, Republic of); Lee, Hyun Young [Ajou University Medical Center, Regional Clinical Trial Center, Suwon (Korea, Republic of); Yonsei University College of Medicine, Department of Biostatistics, Seoul (Korea, Republic of)

    2017-05-15

    To evaluate the ability of intravoxel incoherent motion (IVIM) diffusion-weighted magnetic resonance imaging (MRI) parameters to differentiate nodular hyperplastic hematopoietic bone marrow (HHBM) from malignant vertebral bone marrow lesions (VBMLs). A total of 33 patients with 58 VBMLs, including 9 nodular HHBM lesions, 39 bone metastases, and 10 myelomas, were retrospectively assessed. All diagnoses were confirmed either pathologically or via image assessment. IVIM diffusion-weighted MRI with 11 b values (from 0 to 800 s/mm{sup 2}) were obtained using a 3.0-T MR imager. The apparent diffusion coefficient (ADC), pure diffusion coefficient (D), perfusion fraction (f), and pseudodiffusion coefficient (D*) were calculated. ADC and IVIM parameters were compared using the Mann-Whitney U test. Receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic performances of ADC, D, f, and D* in terms of VBML characterization. The diagnostic performance of morphological MR sequences was also assessed for comparison. The ADC and D values of nodular HHBM were significantly lower than those of malignant VBML (both p values < 0.001), whereas the f value was significantly higher (p < 0.001). However, there were no significant differences in D* between the two groups (p = 0.688). On ROC analysis, the area under the curve (AUC) for D was 1.000, which was significantly larger than that for ADC (AUC = 0.902). Intravoxel incoherent motion diffusion-weighted MRI can be used to differentiate between nodular HHBM and malignant VBML. The D value was significantly lower for nodular HHBM, and afforded a better diagnostic performance than the ADC, f, and D* values in terms of such differentiation. (orig.)

  11. Mastering NServiceBus and persistence

    CERN Document Server

    Helton, Rich

    2014-01-01

    This book is intended for developers, designers, and architects alike who wish to build C# NServiceBus enterprise architectures and learn how ESB persists data and messages to help them attain their goals. No prior knowledge of persistence in NServiceBus is required.

  12. Is bacterial persistence a social trait?

    Directory of Open Access Journals (Sweden)

    Andy Gardner

    Full Text Available The ability of bacteria to evolve resistance to antibiotics has been much reported in recent years. It is less well-known that within populations of bacteria there are cells which are resistant due to a non-inherited phenotypic switch to a slow-growing state. Although such 'persister' cells are receiving increasing attention, the evolutionary forces involved have been relatively ignored. Persistence has a direct benefit to cells because it allows survival during catastrophes-a form of bet-hedging. However, persistence can also provide an indirect benefit to other individuals, because the reduced growth rate can reduce competition for limiting resources. This raises the possibility that persistence is a social trait, which can be influenced by kin selection. We develop a theoretical model to investigate the social consequences of persistence. We predict that selection for persistence is increased when: (a cells are related (e.g. a single, clonal lineage; and (b resources are scarce. Our model allows us to predict how the level of persistence should vary with time, across populations, in response to intervention strategies and the level of competition. More generally, our results clarify the links between persistence and other bet-hedging or social behaviours.

  13. The Persistence of Mutual Fund Performance.

    OpenAIRE

    Grinblatt, Mark; Titman, Sheridan

    1992-01-01

    This paper analyzes how mutual fund performance relates to past performance. These tests are based on a multiple portfolio benchmark that was formed on the basis of securities characteristics. The authors find evidence that differences in performance between funds persist over time and that this persistence is consistent with the ability of fund managers to earn abnormal returns. Copyright 1992 by American Finance Association.

  14. Modelling asymmetric persistence over the business cycle

    NARCIS (Netherlands)

    Ph.H.B.F. Franses (Philip Hans); R. Paap (Richard)

    1998-01-01

    textabstractWe address the issue of time varying persistence of shocks to macroeconomic time series variables by proposing a new and parsimonious time series model. Our model assumes that this time varying persistence depends on a linear combination of lagged explanatory variables, where this

  15. A model for persistency of egg production

    NARCIS (Netherlands)

    Grossman, M.; Gossman, T.N.; Koops, W.J.

    2000-01-01

    The objectives of our study were to propose a new definition for persistency of egg production and to develop a mathematical model to describe the egg production curve, one that includes a new measure for persistency, based on the proposed definition, for use as a selection criterion to improve

  16. Lymphogranuloma venereum causing a persistent genital ulcer.

    Science.gov (United States)

    Marcotte, Terrence; Lee, Yer; Pandori, Mark; Jain, Vivek; Cohen, Stephanie Elise

    2014-04-01

    Lymphogranuloma venereum (LGV) is a sexually transmitted cause of inguinal lymphadenopathy and proctocolitis. We report a patient with a persistent genital ulcer due to LGV (serovar L2b), an unusual presentation among US men who have sex with men. Lymphogranuloma venereum should be considered when evaluating persistent genital ulcers, and LGV-specific testing should be sought.

  17. Persistent Identifiers as Boundary Objects

    Science.gov (United States)

    Parsons, M. A.; Fox, P. A.

    2017-12-01

    In 1989, Leigh Star and Jim Griesemer defined the seminal concept of `boundary objects'. These `objects' are what Latour calls `immutable mobiles' that enable communication and collaboration across difference by helping meaning to be understood in different contexts. As Star notes, they are a sort of arrangement that allow different groups to work together without (a priori) consensus. Part of the idea is to recognize and allow for the `interpretive flexibility' that is central to much of the `constructivist' approach in the sociology of science. Persistent Identifiers (PIDs) can clearly act as boundary objects, but people do not usually assume that they enable interpretive flexibility. After all, they are meant to be unambiguous, machine-interpretable identifiers of defined artifacts. In this paper, we argue that PIDs can fill at least two roles: 1) That of the standardized form, where there is strong agreement on what is being represented and how and 2) that of the idealized type, a more conceptual concept that allows many different representations. We further argue that these seemingly abstract conceptions actually help us implement PIDs more effectively to link data, publications, various other artifacts, and especially people. Considering PIDs as boundary objects can help us address issues such as what level of granularity is necessary for PIDs, what metadata should be directly associated with PIDs, and what purpose is the PID serving (reference, provenance, credit, etc.). In short, sociological theory can improve data sharing standards and their implementation in a way that enables broad interdisciplinary data sharing and reuse. We will illustrate this with several specific examples of Earth science data.

  18. Stochastic convergence of persistence landscapes and silhouettes

    Directory of Open Access Journals (Sweden)

    Frédéric Chazal

    2015-03-01

    Full Text Available Persistent homology is a widely used tool in Topological Data Analysis that encodes multi-scale topological information as a multiset of points in the plane called a persistence diagram. It is difficult to apply statistical theory directly to a random sample of diagrams. Instead, we summarize persistent homology with a persistence landscape, introduced by Bubenik, which converts a diagram into a well-behaved real-valued function. We investigate the statistical properties of landscapes, such as weak convergence of the average landscapes and convergence of the bootstrap. In addition, we introduce an alternate functional summary of persistent homology, which we call the silhouette, and derive an analogous statistical theory.

  19. On persistence interfaces for scientific data stores

    International Nuclear Information System (INIS)

    Malon, D.M.; May, E.N.

    1996-01-01

    A common dilemma among builders of large scientific data stores is whether to use a lightweight object persistence manager or a genuine object-oriented database. There are often good reasons to consider each of these strategies; a few are described in this paper. Too often, however, electing to use a lightweight approach has meant programming to an interface that is entirely different than that expected by commercial object-oriented databases. With the emergence of object database standards, it is possible to provide an interface to persistence managers that does not needlessly inhibit coexistence with (and, perhaps, eventual migration to) object-oriented databases. This paper describes an implementation of a substantial subset of the ODMG-93[1]C++ specification that allows clients to use many of today's lightweight object persistence managers through an interface that conforms to the ODMG standard. We also describe a minimal interface that persistence software should support in order to provide persistence services for ODMG implementations

  20. Persistence Characteristics of Australian Rainfall Anomalies

    Science.gov (United States)

    Simmonds, Ian; Hope, Pandora

    1997-05-01

    Using 79 years (1913-1991) of Australian monthly precipitation data we examined the nature of the persistence of rainfall anomalies. Analyses were performed for four climate regions covering the country, as well as for the entire Australian continent. We show that rainfall over these regions has high temporal variability and that annual rainfall amounts over all five sectors vary in phase and are, with the exception of the north-west region, significantly correlated with the Southern Oscillation Index (SOI). These relationships were particularly strong during the spring season.It is demonstrated that Australian rainfall exhibits statistically significant persistence on monthly, seasonal, and (to a limited extent) annual time-scales, up to lags of 3 months and one season and 1 year. The persistence showed strong seasonal dependence, with each of the five regions showing memory out to 4 or 5 months from winter and spring. Many aspects of climate in the Australasian region are known to have undergone considerable changes about 1950. We show this to be true for persistence also; its characteristics identified for the entire record were present during the 1951--1980 period, but virtually disappeared in the previous 30-year period.Much of the seasonal distribution of rainfall persistence on monthly time-scales, particularly in the east, is due to the influence of the SOI. However, most of the persistence identified in winter and spring in the north-west is independent of the ENSO phenomenon.Rainfall anomalies following extreme dry and wet months, seasons and years (lowest and highest two deciles) persisted more than would be expected by chance. For monthly extreme events this was more marked in the winter semester for the wet events, except in the south-east region. In general, less persistence was found for the extreme seasons. Although the persistence of dry years was less than would have been expected by chance, the wet years appear to display persistence.

  1. Laboratory diagnosis of persistent human chlamydial infection

    Directory of Open Access Journals (Sweden)

    Mirja ePuolakkainen

    2013-12-01

    Full Text Available Diagnostic assays for persistent chlamydial infection are much needed to conduct high-quality, large-scale studies investigating the persistent state in vivo, its disease associations and the response to therapy. Yet in most studies the distinction between acute and persistent infection is based on the interpretation of the data obtained by the assays developed to diagnose acute infections or on complex assays available for research only and/or difficult to establish for clinical use. Novel biomarkers for detection of persistent chlamydial infection are urgently needed. Chlamydial whole genome proteome arrays are now available and they can identify chlamydial antigens that are differentially expressed between acute infection and persistent infection. Utilizing these data will lead to the development of novel diagnostic assays. Carefully selected specimens from well-studied patient populations are clearly needed in the process of translating the proteomic data into assays useful for clinical practice. Before such antigens are identified and validated assays become available, we face a challenge of deciding whether the persistent infection truly induced appearance of the proposed marker or do we just base our diagnosis of persistent infection on the presence of the suggested markers. Consequently, we must bear this in mind when interpreting the available data.

  2. Persistent insomnia is associated with mortality risk.

    Science.gov (United States)

    Parthasarathy, Sairam; Vasquez, Monica M; Halonen, Marilyn; Bootzin, Richard; Quan, Stuart F; Martinez, Fernando D; Guerra, Stefano

    2015-03-01

    Insomnia has been associated with mortality risk, but whether this association is different in subjects with persistent vs intermittent insomnia is unclear. Additionally, the role of systemic inflammation in such an association is unknown. We used data from a community-based cohort to determine whether persistent or intermittent insomnia, defined based on persistence of symptoms over a 6-year period, was associated with death during the following 20 years of follow-up. We also determined whether changes in serum C-reactive protein (CRP) levels measured over 2 decades between study initiation and insomnia determination were different for the persistent, intermittent, and never insomnia groups. The results were adjusted for confounders such as age, sex, body mass index, smoking, physical activity, alcohol, and sedatives. Of the 1409 adult participants, 249 (18%) had intermittent and 128 (9%) had persistent insomnia. During a 20-year follow-up period, 318 participants died (118 due to cardiopulmonary disease). In adjusted Cox proportional-hazards models, participants with persistent insomnia (adjusted hazards ratio [HR] 1.58; 95% confidence interval [CI], 1.02-2.45) but not intermittent insomnia (HR 1.22; 95% CI, 0.86-1.74) were more likely to die than participants without insomnia. Serum CRP levels were higher and increased at a steeper rate in subjects with persistent insomnia as compared with intermittent (P = .04) or never (P = .004) insomnia. Although CRP levels were themselves associated with increased mortality (adjusted HR 1.36; 95% CI, 1.01-1.82; P = .04), adjustment for CRP levels did not notably change the association between persistent insomnia and mortality. In a population-based cohort, persistent, and not intermittent, insomnia was associated with increased risk for all-cause and cardiopulmonary mortality and was associated with a steeper increase in inflammation. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Performance Persistence of Equity Funds in Hungary

    Directory of Open Access Journals (Sweden)

    Dariusz Filip

    2011-03-01

    Full Text Available This study examines the phenomenon of performance persistence of equity funds in Hungary in two time perspectives: 1-year and 6-month perspectives. The empirical results confirm the occurrence of performance dependence in consecutive periods. There is also a strong evidence of short-term persistence in the total horizon of the study (from the beginning of 2000 to the end of 2009, and in several sub-periods. The 1-year persistence was also found in the tested sample and, in general, depended on the measure applied. Furthermore, I observed performance reversal, which can be partly explained by trend changes in the financial markets. The persistence of equity funds performance in Hungary is shaped by market factors rather than the diversity of managerial characteristics.

  4. Near-total pancreatectomy for persistent hyperinsulinemic ...

    African Journals Online (AJOL)

    of persistent hypoglycemia in infancy with consequences ... (PHHI) is the most common cause of recurrent and per- sistent hypoglycemia in infancy and childhood. Causes .... a high rate of pancreatic surgery in the neonatal-onset group.

  5. The persistent stereotype: children's images of scientists

    Science.gov (United States)

    Emens McAdam, Janice

    1990-03-01

    Through their reading children learn to regard scientists as eccentrics. It is shown that this stereotype has persisted for over thirty years and affects many adult attitudes. Some methods of breaking the author-reader cycle are suggested.

  6. Persisting nutritional neuropathy amongst former war prisoners.

    OpenAIRE

    Gill, G V; Bell, D R

    1982-01-01

    Of 898 former Far East prisoners of war, assessed between 1968 and 1981, 49 (5.5%) had evidence of persisting symptomatic neurological disease dating back to their periods of malnutrition in captivity. The commonest syndromes were peripheral neuropathy (often of "burning foot" type), optic atrophy, and sensori-neural deafness. Though nutritional neuropathies disappeared soon after release in most ex-Far East prisoners of war, in some they have persisted up to 36 years since exposure to the nu...

  7. Long - Memory Persistence in African Stock Markets

    Directory of Open Access Journals (Sweden)

    Emmanuel Numapau Gyamfi

    2016-05-01

    Full Text Available Emerging stock markets are said to become efficient with time. This study seeks to investigate this assertion by analyzing long - memory persistence in 8 African stock markets covering the period from 28 August 2000 to 28 August 2015. The Hurst exponent is used as our efficiency measure which is evaluated by the Detrended Fluctuation Analysis (DFA. Our findings show strong evidence of long - memory persistence in the markets studied therefore violating the weak - form Efficient Market Hypothesis (EMH.

  8. Persistent Mullerian Duct Syndrome with Transverse Testicular ...

    African Journals Online (AJOL)

    Eastham JA, McEvoy K, Sullivan R, Chandrasoma P. A case of simultaneous bilateral nonseminomatous testicular tumors in persistent müllerian duct syndrome. J Urol 1992;148:407-8. 8. Shinmura Y, Yokoi T, Tsutsui Y. A case of clear cell adenocarcinoma of the müllerian duct in persistent müllerian duct syndrome: The first ...

  9. Hyperthyroidism as a cause of persistent vomiting.

    Science.gov (United States)

    Hoogendoorn, E H; Cools, B M

    2004-09-01

    A 32-year-old woman presented with persistent vomiting, epigastric pain and weight loss. A sinus tachycardia was the clue to the diagnosis of hyperthyroidism due to Graves' disease. On treatment with propylthiouracil and a beta-blocking agent, her symptoms resolved within one day, even though her free thyroxine level was still high. Hyperthyroidism is an uncommon, but previously reported cause of persistent vomiting.

  10. Hyperthyroidism as a cause of persistent vomiting.

    OpenAIRE

    Hoogendoorn, E.H.; Cools, B.M.

    2004-01-01

    A 32-year-old woman presented with persistent vomiting, epigastric pain and weight loss. A sinus tachycardia was the clue to the diagnosis of hyperthyroidism due to Graves' disease. On treatment with propylthiouracil and a beta-blocking agent, her symptoms resolved within one day, even though her free thyroxine level was still high. Hyperthyroidism is an uncommon, but previously reported cause of persistent vomiting.

  11. Ameloblastic fibroma versus hyperplastic follicular cyst

    OpenAIRE

    Azúa-Romeo, J.; Saura Fillat, E.; Usón Bouthelier, T.; Tovar Lázaro, M.; Azúa Blanco, J.

    2004-01-01

    Resumen: El fibroma ameloblástico (FA) es un tumor odontogénico mixto, compuesto por tejido mesenquimal y epitelio odontogénico, representando el 2% de los tumores odontogénicos, mientras que el quiste dentígero o folicular (QF), el segundo quiste odontogénico en frecuencia, está compuesto exclusivamente por tejido conjuntivo laxo (mesénquima), si bien, el saco fibroso puede contener restos de epitelio odontogénico incluidos, dando lugar a una imagen histológica muy similar. La importancia de...

  12. Herbicide Persistence in Seawater Simulation Experiments.

    Directory of Open Access Journals (Sweden)

    Philip Mercurio

    Full Text Available Herbicides are detected year-round in marine waters, including those of the World Heritage listed Great Barrier Reef (GBR. The few previous studies that have investigated herbicide persistence in seawater generally reported half-lives in the order of months, and several studies were too short to detect significant degradation. Here we investigated the persistence of eight herbicides commonly detected in the GBR or its catchments in standard OECD simulation flask experiments, but with the aim to mimic natural conditions similar to those found on the GBR (i.e., relatively low herbicide concentrations, typical temperatures, light and microbial communities. Very little degradation was recorded over the standard 60 d period (Experiment 1 so a second experiment was extended to 365 d. Half-lives of PSII herbicides ametryn, atrazine, diuron, hexazinone and tebuthiuron were consistently greater than a year, indicating high persistence. The detection of atrazine and diuron metabolites and longer persistence in mercuric chloride-treated seawater confirmed that biodegradation contributed to the breakdown of herbicides. The shortest half-life recorded was 88 d for growth-regulating herbicide 2,4-D at 31°C in the dark, while the fatty acid-inhibitor metolachlor exhibited a minimum half-life of 281 d. The presence of moderate light and elevated temperatures affected the persistence of most of the herbicides; however, the scale and direction of the differences were not predictable and were likely due to changes in microbial community composition. The persistence estimates here represent some of the first appropriate data for application in risk assessments for herbicide exposure in tropical marine systems. The long persistence of herbicides identified in the present study helps explain detection of herbicides in nearshore waters of the GBR year round. Little degradation of these herbicides would be expected during the wet season with runoff and associated

  13. Herbicide Persistence in Seawater Simulation Experiments

    Science.gov (United States)

    Mercurio, Philip; Mueller, Jochen F.; Eaglesham, Geoff; Flores, Florita; Negri, Andrew P.

    2015-01-01

    Herbicides are detected year-round in marine waters, including those of the World Heritage listed Great Barrier Reef (GBR). The few previous studies that have investigated herbicide persistence in seawater generally reported half-lives in the order of months, and several studies were too short to detect significant degradation. Here we investigated the persistence of eight herbicides commonly detected in the GBR or its catchments in standard OECD simulation flask experiments, but with the aim to mimic natural conditions similar to those found on the GBR (i.e., relatively low herbicide concentrations, typical temperatures, light and microbial communities). Very little degradation was recorded over the standard 60 d period (Experiment 1) so a second experiment was extended to 365 d. Half-lives of PSII herbicides ametryn, atrazine, diuron, hexazinone and tebuthiuron were consistently greater than a year, indicating high persistence. The detection of atrazine and diuron metabolites and longer persistence in mercuric chloride-treated seawater confirmed that biodegradation contributed to the breakdown of herbicides. The shortest half-life recorded was 88 d for growth-regulating herbicide 2,4-D at 31°C in the dark, while the fatty acid-inhibitor metolachlor exhibited a minimum half-life of 281 d. The presence of moderate light and elevated temperatures affected the persistence of most of the herbicides; however, the scale and direction of the differences were not predictable and were likely due to changes in microbial community composition. The persistence estimates here represent some of the first appropriate data for application in risk assessments for herbicide exposure in tropical marine systems. The long persistence of herbicides identified in the present study helps explain detection of herbicides in nearshore waters of the GBR year round. Little degradation of these herbicides would be expected during the wet season with runoff and associated flood plumes

  14. Generating Dynamic Persistence in the Time Domain

    Science.gov (United States)

    Guerrero, A.; Smith, L. A.; Smith, L. A.; Kaplan, D. T.

    2001-12-01

    Many dynamical systems present long-range correlations. Physically, these systems vary from biological to economical, including geological or urban systems. Important geophysical candidates for this type of behaviour include weather (or climate) and earthquake sequences. Persistence is characterised by slowly decaying correlation function; that, in theory, never dies out. The Persistence exponent reflects the degree of memory in the system and much effort has been expended creating and analysing methods that successfully estimate this parameter and model data that exhibits persistence. The most widely used methods for generating long correlated time series are not dynamical systems in the time domain, but instead are derived from a given spectral density. Little attention has been drawn to modelling persistence in the time domain. The time domain approach has the advantage that an observation at certain time can be calculated using previous observations which is particularly suitable when investigating the predictability of a long memory process. We will describe two of these methods in the time domain. One is a traditional approach using fractional ARIMA (autoregressive and moving average) models; the second uses a novel approach to extending a given series using random Fourier basis functions. The statistical quality of the two methods is compared, and they are contrasted with weather data which shows, reportedly, persistence. The suitability of this approach both for estimating predictability and for making predictions is discussed.

  15. Persistent agents in Axelrod's social dynamics model

    Science.gov (United States)

    Reia, Sandro M.; Neves, Ubiraci P. C.

    2016-01-01

    Axelrod's model of social dynamics has been studied under the effect of external media. Here we study the formation of cultural domains in the model by introducing persistent agents. These are agents whose cultural traits are not allowed to change but may be spread through local neighborhood. In the absence of persistent agents, the system is known to present a transition from a monocultural to a multicultural regime at some critical Q (number of traits). Our results reveal a dependence of critical Q on the occupation probability p of persistent agents and we obtain the phase diagram of the model in the (p,Q) -plane. The critical locus is explained by the competition of two opposite forces named here barrier and bonding effects. Such forces are verified to be caused by non-persistent agents which adhere (adherent agents) to the set of traits of persistent ones. The adherence (concentration of adherent agents) as a function of p is found to decay for constant Q. Furthermore, adherence as a function of Q is found to decay as a power law with constant p.

  16. The Economy of Persistence: Mario the Tailor

    Directory of Open Access Journals (Sweden)

    Prudence Black

    2016-03-01

    Full Text Available Mario Conte has had a tailor shop in King Street, Newtown since the mid 1960s. Taking an interview with Mario as its point of departure, this article describes the persistence of a skilled worker whose practices and techniques remain the same in a world that has long changed. While inattentive to what rules might be used to decorate a shop window, Mario continues to make and sew in the way that he learnt in post-war Italy. Mario’s persistence could be described as all the skills and other elements that need to be in place to keep him working, in particular the tradition of tailoring techniques he has remained true to over the last fifty years. The hand stitching of his tailoring is like a metronome of that persistence.

  17. Understanding mild persistent asthma in children

    DEFF Research Database (Denmark)

    Bisgaard, Hans; Szefler, Stanley J

    2005-01-01

    Limitations in asthma prevalence studies and difficulties in diagnosing pediatric asthma lead to uncertainty over the full extent of mild persistent asthma in children and adolescents. Although recent surveys have reported that the majority of pediatric patients with asthma in the United States...... and Europe have symptoms consistent with mild disease, these surveys have limitations in design. Thus, the true prevalence of mild asthma remains unknown. It is unclear whether children with mild persistent asthma progress to more severe asthma, but the risk of severe asthma exacerbations seems...... to be unrelated to the symptom severity. Clinical studies restricted to pediatric patients with mild asthma are limited, but available data do suggest substantial morbidity of mild persistent asthma in this population and support inhaled corticosteroid intervention. There is a need for further investigation...

  18. International perspectives on retention and persistence

    Directory of Open Access Journals (Sweden)

    Gary Burkholder

    2014-06-01

    Full Text Available Access to higher education globally is increasing dramatically; attainment of tertiary degrees is a high priority, as educational attainment is associated with increased personal incomes as well as growth of the middle class in developing countries. The purpose of this essay is to briefly examine retention and persistence issues from a global perspective, review some retention strategies that have been employed at schools outside the United States, and to identify several key factors that related to retention and persistence globally, including access, infrastructure, financial consideration, and readiness for tertiary education.  There exists an opportunity to utilize knowledge gained in the evolution of the higher education system in the United States to help address the problems associated with retention and persistence.   DOI: 10.18870/hlrc.v4i2.208

  19. Persistent toxic substances: sources, fates and effects.

    Science.gov (United States)

    Wong, Ming H; Armour, Margaret-Ann; Naidu, Ravi; Man, Ming

    2012-01-01

    Persistent toxic substances (PTS) include the Stockholm persistent organic pollutants, like dichlorodiphenyltrichloroethane, polychlorinated biphenyls, dioxin/furan, etc., and organometallic compounds, like organomercury, organotin, and organolead, which all share the same characteristics of being persistent, toxic, bioaccumulative, and able to travel long distances through different media. The adverse health effects of some of the emerging chemicals like pentabromodiphenyl ether, bisphenol A, and di(2-ethylhexyl)phthalate, which are widely used in daily appliances (e.g., TVs, computers, mobile phones, plastic baby bottles), have become a public health concern due to more evidence now available showing their adverse effects like disturbance of the endocrine system and cancer. This article is an attempt to review the current status of PTS in our environment, citing case studies in China and North America, and whether our existing drinking water treatment and wastewater treatment processes are adequate in removing them from water. Some management issues of these emerging chemicals of concern are also discussed.

  20. Modeling Real Exchange Rate Persistence in Chile

    Directory of Open Access Journals (Sweden)

    Leonardo Salazar

    2017-07-01

    Full Text Available The long and persistent swings in the real exchange rate have for a long time puzzled economists. Recent models built on imperfect knowledge economics seem to provide a theoretical explanation for this persistence. Empirical results, based on a cointegrated vector autoregressive (CVAR model, provide evidence of error-increasing behavior in prices and interest rates, which is consistent with the persistence observed in the data. The movements in the real exchange rate are compensated by movements in the interest rate spread, which restores the equilibrium in the product market when the real exchange rate moves away from its long-run benchmark value. Fluctuations in the copper price also explain the deviations of the real exchange rate from its long-run equilibrium value.

  1. The origins of lactase persistence in Europe.

    Directory of Open Access Journals (Sweden)

    Yuval Itan

    2009-08-01

    Full Text Available Lactase persistence (LP is common among people of European ancestry, but with the exception of some African, Middle Eastern and southern Asian groups, is rare or absent elsewhere in the world. Lactase gene haplotype conservation around a polymorphism strongly associated with LP in Europeans (-13,910 C/T indicates that the derived allele is recent in origin and has been subject to strong positive selection. Furthermore, ancient DNA work has shown that the--13,910*T (derived allele was very rare or absent in early Neolithic central Europeans. It is unlikely that LP would provide a selective advantage without a supply of fresh milk, and this has lead to a gene-culture coevolutionary model where lactase persistence is only favoured in cultures practicing dairying, and dairying is more favoured in lactase persistent populations. We have developed a flexible demic computer simulation model to explore the spread of lactase persistence, dairying, other subsistence practices and unlinked genetic markers in Europe and western Asia's geographic space. Using data on--13,910*T allele frequency and farming arrival dates across Europe, and approximate Bayesian computation to estimate parameters of interest, we infer that the--13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly in association with the dissemination of the Neolithic Linearbandkeramik culture over Central Europe. Furthermore, our results suggest that natural selection favouring a lactase persistence allele was not higher in northern latitudes through an increased requirement for dietary vitamin D. Our results provide a coherent and spatially explicit picture of the coevolution of lactase persistence and dairying in Europe.

  2. The origins of lactase persistence in Europe.

    Science.gov (United States)

    Itan, Yuval; Powell, Adam; Beaumont, Mark A; Burger, Joachim; Thomas, Mark G

    2009-08-01

    Lactase persistence (LP) is common among people of European ancestry, but with the exception of some African, Middle Eastern and southern Asian groups, is rare or absent elsewhere in the world. Lactase gene haplotype conservation around a polymorphism strongly associated with LP in Europeans (-13,910 C/T) indicates that the derived allele is recent in origin and has been subject to strong positive selection. Furthermore, ancient DNA work has shown that the--13,910*T (derived) allele was very rare or absent in early Neolithic central Europeans. It is unlikely that LP would provide a selective advantage without a supply of fresh milk, and this has lead to a gene-culture coevolutionary model where lactase persistence is only favoured in cultures practicing dairying, and dairying is more favoured in lactase persistent populations. We have developed a flexible demic computer simulation model to explore the spread of lactase persistence, dairying, other subsistence practices and unlinked genetic markers in Europe and western Asia's geographic space. Using data on--13,910*T allele frequency and farming arrival dates across Europe, and approximate Bayesian computation to estimate parameters of interest, we infer that the--13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly in association with the dissemination of the Neolithic Linearbandkeramik culture over Central Europe. Furthermore, our results suggest that natural selection favouring a lactase persistence allele was not higher in northern latitudes through an increased requirement for dietary vitamin D. Our results provide a coherent and spatially explicit picture of the coevolution of lactase persistence and dairying in Europe.

  3. Persisting nutritional neuropathy amongst former war prisoners.

    Science.gov (United States)

    Gill, G V; Bell, D R

    1982-01-01

    Of 898 former Far East prisoners of war, assessed between 1968 and 1981, 49 (5.5%) had evidence of persisting symptomatic neurological disease dating back to their periods of malnutrition in captivity. The commonest syndromes were peripheral neuropathy (often of "burning foot" type), optic atrophy, and sensori-neural deafness. Though nutritional neuropathies disappeared soon after release in most ex-Far East prisoners of war, in some they have persisted up to 36 years since exposure to the nutritional insult. PMID:6292369

  4. PERSISTENCY ANALYSIS OF PARTICIPANTS OF PENSION PLANS

    OpenAIRE

    ROBERTA DE SOUZA CHUN

    2007-01-01

    O tema central deste trabalho é apresentar modelos de persistência. As probabilidades de persistência na carteira de um produto de determinada empresa de seguros e previdência serão estudadas de forma agregada, de tal forma que se torna possível a elaboração de outros estudos, como por exemplo, de análise de lucratividade, mesmo com poucos dados, o que inviabiliza a elaboração de tábuas de múltiplos decrementos. Serão avaliadas as possíveis causas de saí...

  5. Amnestically Induced Persistence in Random Walks

    Science.gov (United States)

    Cressoni, J. C.; da Silva, Marco Antonio Alves; Viswanathan, G. M.

    2007-02-01

    We study how the Hurst exponent α depends on the fraction f of the total time t remembered by non-Markovian random walkers that recall only the distant past. We find that otherwise nonpersistent random walkers switch to persistent behavior when inflicted with significant memory loss. Such memory losses induce the probability density function of the walker’s position to undergo a transition from Gaussian to non-Gaussian. We interpret these findings of persistence in terms of a breakdown of self-regulation mechanisms and discuss their possible relevance to some of the burdensome behavioral and psychological symptoms of Alzheimer’s disease and other dementias.

  6. The Persistence of Long Work Hours

    OpenAIRE

    Robert Drago; David Black; Mark Wooden

    2005-01-01

    Previous research hypothesizes that long working hours are related to consumerism, the ideal worker norm, high levels of human capital, and a high cost-of-job-loss. The authors test these hypotheses using panel data on working hours for an Australian sample of full-time employed workers. Analyses include a static cross-sectional model and a persistence model for long hours over time. The results suggest that long hours (50 or more hours in a usual week) are often persistent, and provide stron...

  7. Using Benchmarking To Strengthen the Assessment of Persistence.

    Science.gov (United States)

    McLachlan, Michael S; Zou, Hongyan; Gouin, Todd

    2017-01-03

    Chemical persistence is a key property for assessing chemical risk and chemical hazard. Current methods for evaluating persistence are based on laboratory tests. The relationship between the laboratory based estimates and persistence in the environment is often unclear, in which case the current methods for evaluating persistence can be questioned. Chemical benchmarking opens new possibilities to measure persistence in the field. In this paper we explore how the benchmarking approach can be applied in both the laboratory and the field to deepen our understanding of chemical persistence in the environment and create a firmer scientific basis for laboratory to field extrapolation of persistence test results.

  8. The Enigmatic Persistence of Anorexia Nervosa

    Science.gov (United States)

    Walsh, B. Timothy

    2014-01-01

    Objective In this review, based on recent advances in cognitive neuroscience, the author presents a formulation in which the marked persistence of anorexia nervosa can be usefully understood as a well-ingrained maladaptive habit. Method The author reviewed the relevant literature on the development and course of anorexia nervosa and interpreted critical features in light of developments in cognitive neuroscience. Results Anorexia nervosa is a well characterized disorder with remarkable persistence both across history and among affected individuals. Food restriction, the salient behavioral feature of the disorder, often begins innocently but gradually takes on a life of its own. Over time, it becomes highly entrenched and resistant to change through either psychological or pharmacological treatment. Cognitive neuroscience has described two related but distinct processes that underlie the acquisition of new patterns of behavior, namely, action-outcome and stimulus-response learning. It is likely that both processes are engaged in the development of anorexia nervosa and that stimulus-response learning (that is, habit formation) is critical to the persistence of the dieting behavior. Conclusions The formulation of the dieting behavior characteristic of anorexia nervosa as a well-entrenched habit provides a basis for understanding the striking persistence of this disorder. This model helps explain the resistance of anorexia nervosa to interventions that have established efficacy in related disorders and implies that addressing the dieting behavior is critical, especially early in the course of the illness, before it has become ingrained. PMID:23429750

  9. Nitrogen uptake dynamics of a persistent cyanobacterium ...

    African Journals Online (AJOL)

    Worldwide, persistent cyanobacterial blooms are becoming more frequent and are often associated with effects of global climate change. In June 2009, a widespread bloom of the unicellular cyanobacterium, Cyanothece sp., appeared in North Lake and False Bay of Lake St Lucia – a large (360 km2) estuarine lake system ...

  10. Persistent Functional Languages: Toward Functional Relational Databases

    NARCIS (Netherlands)

    Wevers, L.

    2014-01-01

    Functional languages provide new approaches to concurrency control, based on techniques such as lazy evaluation and memoization. We have designed and implemented a persistent functional language based on these ideas, which we plan to use for the implementation of a relational database system. With

  11. Persistent pain after mastectomy with reconstruction.

    LENUS (Irish Health Repository)

    Hickey, Oonagh T

    2011-09-01

    To determine the prevalence of persistent postsurgical pain (PPSP) and its influence on functional status, and to examine associations between PPSP and single nucleotide polymorphisms of the catechol-O-methyltransferase (COMT) gene and the guanosine triphosphate cyclohydrolase 1 (GCH1) gene following mastectomy and reconstruction.

  12. Persistent ovarian masses and pregnancy outcomes.

    Science.gov (United States)

    Goh, William A; Rincon, Monica; Bohrer, Justin; Tolosa, Jorge E; Sohaey, Roya; Riaño, Rene; Davis, James; Zalud, Ivica

    2013-07-01

    To determine if persistent ovarian masses in pregnancy are associated with increased adverse outcomes. This is a retrospective cohort of 126 pregnant women with a persistent ovarian mass measuring 5 cm or greater who delivered at two university hospitals between 2001 and 2009. Maternal outcomes included gestational age (GA) at diagnosis, delivery and surgery as well as miscarriage, preterm birth (PTB), ovarian torsion and hospital admission for pain. Neonatal outcomes included birth weight, respiratory distress syndrome (RDS), intra-ventricular hemorrhage (IVH), death and sepsis. A total of 1225 ovarian masses were identified (4.9%) in 24,868 patients. A persistent ovarian mass was found in 0.7%. Average GA at diagnosis was 17.8 weeks. Miscarriage rate was 3.3%. Average GA at delivery was 37.9 weeks. Of the patients, 8.5% had ovarian torsion, 10.3% had admission for pain and 9.3% had PTBs. The mean cesarean delivery rate was 46.3%. The average neonatal weight was 3273 g. There was one neonatal death in this cohort. The rate of RDS was 2.8%, IVH 0.9% and neonatal sepsis 1.9%. The most common surgical pathologic diagnosis was dermoids (37.6%). No overt malignancies were seen. A persistent ovarian mass in pregnancy does not confer an increased risk of adverse pregnancy outcomes.

  13. Persistence of Change: Fume Hood Campaign Lessons

    Science.gov (United States)

    Feder, Elah; Robinson, Jennifer; Wakefield, Sarah

    2012-01-01

    Purpose: Sustainability initiatives typically operate for a limited time period, but it is often unclear whether they have lasting effects. The purpose of this paper is to examine a laboratory fume hood campaign, in order to identify factors that might contribute or detract from long-term change persistence. Design/methodology/approach: The…

  14. Treatment of persistent pain from torture

    DEFF Research Database (Denmark)

    Williams, Amanda C de C; Amris, Kirstine

    2017-01-01

    the nature of persistent pain means that pain is largely overlooked and untreated in torture survivors. We carried out a systematic review on treatments for pain from torture, but found few studies and little use of current understanding and evidence. We discuss this in the context of treating pain...

  15. Reserve design to maximize species persistence

    Science.gov (United States)

    Robert G. Haight; Laurel E. Travis

    2008-01-01

    We develop a reserve design strategy to maximize the probability of species persistence predicted by a stochastic, individual-based, metapopulation model. Because the population model does not fit exact optimization procedures, our strategy involves deriving promising solutions from theory, obtaining promising solutions from a simulation optimization heuristic, and...

  16. Retrospective review of neonates with persistent pulmonary ...

    African Journals Online (AJOL)

    Persistent pulmonary hypertension of the newborn (PPHN) is a clinical condition characterised by severe respiratory failure and hypoxaemia.[1] Its incidence is estimated at around 2 per 1 000 live births worldwide and it is associated with a high morbidity and mortality.[2,3] Despite the progress in treating PPHN, it remains a.

  17. A Neonate with persistent hypoglycemia and seizures.

    African Journals Online (AJOL)

    MBY

    disorder was diagnosed and managed with limited success as the episodes hydroglycemic seizures persisted. ... the presence of hyperinsulinemia as the cause of the hypoglycemic dependent seizures. Case Presentation. A three day old girl was admitted to the neonatal .... the Prader-Willi syndrome, has been reported.

  18. Persistent Pain and Sensory Abnormalities after Abdominoplasty

    DEFF Research Database (Denmark)

    Presman, Benjamin; Finnerup, Kenneth; Andresen, Sven Robert

    2015-01-01

    and characteristics of persistent pain after abdominoplasty, which is one of the most frequent cosmetic surgical procedures. METHODS: In September 2014, a link to a web-based questionnaire was mailed to 217 patients who had undergone abdominoplasty between 2006 and 2014 at the Department of Plastic Surgery, Aalborg...

  19. The Myth of Persistence of Vision Revisited.

    Science.gov (United States)

    Anderson, Joseph; Anderson, Barbara

    1993-01-01

    Argues that "persistence of vision" myth (the succession of still images perceived as continuous motion) has a place in the history of film scholarship but can no longer be given currency in film theory. Suggests replacement of the concept of the passive viewer implied by the myth by an enlightened understanding of how viewers actually…

  20. Forecasting autoregressive time series under changing persistence

    DEFF Research Database (Denmark)

    Kruse, Robinson

    Changing persistence in time series models means that a structural change from nonstationarity to stationarity or vice versa occurs over time. Such a change has important implications for forecasting, as negligence may lead to inaccurate model predictions. This paper derives generally applicable...

  1. Persistence Modeling for Assessing Marketing Strategy Performance

    NARCIS (Netherlands)

    M.G. Dekimpe (Marnik); D.M. Hanssens (Dominique)

    2003-01-01

    textabstractThe question of long-run market response lies at the heart of any marketing strategy that tries to create a sustainable competitive advantage for the firm or brand. A key challenge, however, is that only short-run results of marketing actions are readily observable. Persistence modeling

  2. Persistent trophoblast disease following partial molar pregnancy.

    NARCIS (Netherlands)

    Wielsma, S.; Kerkmeijer, L.G.W.; Bekkers, R.L.M.; Pyman, J.; Tan, J.; Quinn, M.

    2006-01-01

    OBJECTIVE: Human chorionic gonadotrophin (hCG) follow-up data were analysed retrospectively in all patients registered in the Hydatidiform Mole Registry at the Royal Women's Hospital, Melbourne from January 1992 to January 2001 to determine the risk of persistent trophoblast disease following

  3. Intermediates, Catalysts, Persistence, and Boundary Steady States

    DEFF Research Database (Denmark)

    Marcondes de Freitas, Michael; Feliu, Elisenda; Wiuf, Carsten

    2017-01-01

    networks without breaking known necessary or sufficient conditions for persistence, by iteratively removing socalled intermediates and catalysts from the network. The procedures are easy to apply and, in many cases, lead to highly simplified network structures, such as monomolecular networks. For specific...

  4. Diversity of Lactase Persistence Alleles in Ethiopia

    DEFF Research Database (Denmark)

    Jones, BL; Raga, TO; Liebert, Anke

    2013-01-01

    The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (−13910∗T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene ...

  5. Hyperthyroidism as a cause of persistent vomiting.

    NARCIS (Netherlands)

    Hoogendoorn, E.H.; Cools, B.M.

    2004-01-01

    A 32-year-old woman presented with persistent vomiting, epigastric pain and weight loss. A sinus tachycardia was the clue to the diagnosis of hyperthyroidism due to Graves' disease. On treatment with propylthiouracil and a beta-blocking agent, her symptoms resolved within one day, even though her

  6. Ethnic Differences in Persistence with COPD Medications

    DEFF Research Database (Denmark)

    Hu, Yusun; Cantarero-Arévalo, Lourdes; Frølich, Anne

    2017-01-01

    BACKGROUND: Long-acting bronchodilators (LABDs) are recommended as a first-line maintenance therapy in patients with moderate or severe chronic obstructive pulmonary disease (COPD). The aim of the study was to explore potential ethnic differences in persistence with LABD in COPD patients. METHODS...

  7. Novel protocol for persister cells isolation.

    Directory of Open Access Journals (Sweden)

    Silvia J Cañas-Duarte

    Full Text Available Bacterial persistence, where a fraction of a population presents a transient resistance to bactericidal substances, has great medical importance due to its relation with the appearance of antibiotic resistances and untreatable bacterial chronic infections. The mechanisms behind this phenomenon remain largely unknown in spite of recent advances, in great part because of the difficulty in isolating the very small fraction of the population that is in this state at any given time. Current protocols for persister isolation have resulted in possible biases because of the induction of this state by the protocol itself. Here we present a novel protocol that allows rapid isolation of persister cells both from exponential and stationary phase. Moreover, it is capable of differentiating between type I and type II persister cells, which should allow the field to move beyond its current state of studying only one type. While this protocol prompts a revision of many of the current results, it should greatly facilitate further advances in the field.

  8. Persistence of Value-Driven Attentional Capture

    Science.gov (United States)

    Anderson, Brian A.; Yantis, Steven

    2013-01-01

    Stimuli that have previously been associated with the delivery of reward involuntarily capture attention when presented as unrewarded and task-irrelevant distractors in a subsequent visual search task. It is unknown how long such effects of reward learning on attention persist. One possibility is that value-driven attentional biases are plastic…

  9. Retrospective review of neonates with persistent pulmonary ...

    African Journals Online (AJOL)

    Background. Persistent pulmonary hypertension of the newborn (PPHN) is a clinical syndrome characterised by high pulmonary pressures, low systemic pressures and severe hypoxaemia due to circulation transition failure after birth. Objective. To determine the incidence of and describe the risk factors, infant ...

  10. Judgment of facial expressions and depression persistence

    NARCIS (Netherlands)

    Hale, WW

    1998-01-01

    In research it has been demonstrated that cognitive and interpersonal processes play significant roles in depression development and persistence. The judgment of emotions displayed in facial expressions by depressed patients allows for a better understanding of these processes. In this study, 48

  11. Persistence of environmental DNA in freshwater ecosystems.

    Directory of Open Access Journals (Sweden)

    Tony Dejean

    Full Text Available The precise knowledge of species distribution is a key step in conservation biology. However, species detection can be extremely difficult in many environments, specific life stages and in populations at very low density. The aim of this study was to improve the knowledge on DNA persistence in water in order to confirm the presence of the focus species in freshwater ecosystems. Aquatic vertebrates (fish: Siberian sturgeon and amphibian: Bullfrog tadpoles were used as target species. In control conditions (tanks and in the field (ponds, the DNA detectability decreases with time after the removal of the species source of DNA. DNA was detectable for less than one month in both conditions. The density of individuals also influences the dynamics of DNA detectability in water samples. The dynamics of detectability reflects the persistence of DNA fragments in freshwater ecosystems. The short time persistence of detectable amounts of DNA opens perspectives in conservation biology, by allowing access to the presence or absence of species e.g. rare, secretive, potentially invasive, or at low density. This knowledge of DNA persistence will greatly influence planning of biodiversity inventories and biosecurity surveys.

  12. Persistence of Mycoplasma genitalium following azithromycin therapy.

    Directory of Open Access Journals (Sweden)

    Catriona S Bradshaw

    Full Text Available BACKGROUND: To determine clinical outcomes and cure rates for M.genitalium genital infection in men and women following azithromycin 1 g. METHODOLOGY: Patients attending Melbourne Sexual Health Centre between March 2005 and November 2007 with urethritis/epididymitis, cervicitis/pelvic inflammatory disease and sexual contacts of M.genitalium were tested for M.genitalium by polymerase chain reaction (PCR. M.genitalium-infection was treated with 1 g of azithromycin and a test-of-cure (toc was performed one month post-azithromycin. Response to azithromycin, and response to moxifloxacin (400 mg daily for 10 days in individuals with persistent infection post-azithromycin, was determined. PRINCIPAL FINDINGS: Of 1538 males and 313 females tested, 161 males (11% and 30 females (10% were infected with M.genitalium. A toc was available on 131 (69% infected individuals (median = 36 days [range 12-373]. Of 120 individuals prescribed azithromycin only pre-toc, M.genitalium was eradicated in 101 (84%, 95% confidence intervals [CI]: 77-90% and persisted in 19 (16%, 95% CI: 10-23%. Eleven individuals with persistent infection (9%, 95% CI: 5-15% had no risk of reinfection from untreated-partners, while eight (7%, 95% CI: 3-12% may have been at risk of reinfection from doxycycline-treated or untreated-partners. Moxifloxacin was effective in eradicating persistent infection in all cases not responding to azithromycin. Patients with persistent-M.genitalium were more likely to experience persistent symptoms (91%, compared to patients in whom M.genitalium was eradicated (17%, p<0.0001. CONCLUSION: Use of azithromycin 1 g in M.genitalium-infected patients was associated with unacceptable rates of persistent infection, which was eradicated with moxifloxacin. These findings highlight the importance of follow-up in M.genitalium-infected patients prescribed azithromycin, and the need to monitor for the development of resistance. Research to determine optimal first and

  13. Multiscale Persistent Functions for Biomolecular Structure Characterization

    Energy Technology Data Exchange (ETDEWEB)

    Xia, Kelin [Nanyang Technological University (Singapore). Division of Mathematical Sciences, School of Physical, Mathematical Sciences and School of Biological Sciences; Li, Zhiming [Central China Normal University, Wuhan (China). Key Laboratory of Quark and Lepton Physics (MOE) and Institute of Particle Physics; Mu, Lin [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States). Computer Science and Mathematics Division

    2017-11-02

    Here in this paper, we introduce multiscale persistent functions for biomolecular structure characterization. The essential idea is to combine our multiscale rigidity functions (MRFs) with persistent homology analysis, so as to construct a series of multiscale persistent functions, particularly multiscale persistent entropies, for structure characterization. To clarify the fundamental idea of our method, the multiscale persistent entropy (MPE) model is discussed in great detail. Mathematically, unlike the previous persistent entropy (Chintakunta et al. in Pattern Recognit 48(2):391–401, 2015; Merelli et al. in Entropy 17(10):6872–6892, 2015; Rucco et al. in: Proceedings of ECCS 2014, Springer, pp 117–128, 2016), a special resolution parameter is incorporated into our model. Various scales can be achieved by tuning its value. Physically, our MPE can be used in conformational entropy evaluation. More specifically, it is found that our method incorporates in it a natural classification scheme. This is achieved through a density filtration of an MRF built from angular distributions. To further validate our model, a systematical comparison with the traditional entropy evaluation model is done. Additionally, it is found that our model is able to preserve the intrinsic topological features of biomolecular data much better than traditional approaches, particularly for resolutions in the intermediate range. Moreover, by comparing with traditional entropies from various grid sizes, bond angle-based methods and a persistent homology-based support vector machine method (Cang et al. in Mol Based Math Biol 3:140–162, 2015), we find that our MPE method gives the best results in terms of average true positive rate in a classic protein structure classification test. More interestingly, all-alpha and all-beta protein classes can be clearly separated from each other with zero error only in our model. Finally, a special protein structure index (PSI) is proposed, for the first

  14. Persistence of undergraduate women in STEM fields

    Science.gov (United States)

    Pedone, Maggie Helene

    The underrepresentation of women in science, technology, engineering, and mathematics (STEM) is a complex problem that continues to persist at the postsecondary level, particularly in computer science and engineering fields. This dissertation explored the pre-college and college level factors that influenced undergraduate women's persistence in STEM. This study also examined and compared the characteristics of undergraduate women who entered STEM fields and non-STEM fields in 2003-2004. The nationally representative Beginning Postsecondary Students Longitudinal Study (BPS:04/09) data set was used for analysis. BPS:04/09 study respondents were surveyed three times (NPSAS:04, BPS:04/06, BPS:04/09) over a six-year period, which enabled me to explore factors related to long-term persistence. Astin's Input-Environment-Output (I-E-O) model was used as the framework to examine student inputs and college environmental factors that predict female student persistence (output) in STEM. Chi-square tests revealed significant differences between undergraduate women who entered STEM and non-STEM fields in 2003-2004. Differences in student demographics, prior academic achievement, high school course-taking patterns, and student involvement in college such as participation in study groups and school clubs were found. Notably, inferential statistics showed that a significantly higher proportion of female minority students entered STEM fields than non-STEM fields. These findings challenge the myth that underrepresented female minorities are less inclined to enter STEM fields. Logistic regression analyses revealed thirteen significant predictors of persistence for undergraduate women in STEM. Findings showed that undergraduate women who were younger, more academically prepared, and academically and socially involved in college (e.g., lived on campus, interacted with faculty, participated in study groups, fine arts activities, and school sports) were more likely to persist in STEM

  15. Persistence drives gene clustering in bacterial genomes

    Directory of Open Access Journals (Sweden)

    Rocha Eduardo PC

    2008-01-01

    Full Text Available Abstract Background Gene clustering plays an important role in the organization of the bacterial chromosome and several mechanisms have been proposed to explain its extent. However, the controversies raised about the validity of each of these mechanisms remind us that the cause of this gene organization remains an open question. Models proposed to explain clustering did not take into account the function of the gene products nor the likely presence or absence of a given gene in a genome. However, genomes harbor two very different categories of genes: those genes present in a majority of organisms – persistent genes – and those present in very few organisms – rare genes. Results We show that two classes of genes are significantly clustered in bacterial genomes: the highly persistent and the rare genes. The clustering of rare genes is readily explained by the selfish operon theory. Yet, genes persistently present in bacterial genomes are also clustered and we try to understand why. We propose a model accounting specifically for such clustering, and show that indispensability in a genome with frequent gene deletion and insertion leads to the transient clustering of these genes. The model describes how clusters are created via the gene flux that continuously introduces new genes while deleting others. We then test if known selective processes, such as co-transcription, physical interaction or functional neighborhood, account for the stabilization of these clusters. Conclusion We show that the strong selective pressure acting on the function of persistent genes, in a permanent state of flux of genes in bacterial genomes, maintaining their size fairly constant, that drives persistent genes clustering. A further selective stabilization process might contribute to maintaining the clustering.

  16. Rotenone persistence model for montane streams

    Science.gov (United States)

    Brown, Peter J.; Zale, Alexander V.

    2012-01-01

    The efficient and effective use of rotenone is hindered by its unknown persistence in streams. Environmental conditions degrade rotenone, but current label instructions suggest fortifying the chemical along a stream based on linear distance or travel time rather than environmental conditions. Our objective was to develop models that use measurements of environmental conditions to predict rotenone persistence in streams. Detailed measurements of ultraviolet radiation, water temperature, dissolved oxygen, total dissolved solids (TDS), conductivity, pH, oxidation–reduction potential (ORP), substrate composition, amount of organic matter, channel slope, and travel time were made along stream segments located between rotenone treatment stations and cages containing bioassay fish in six streams. The amount of fine organic matter, biofilm, sand, gravel, cobble, rubble, small boulders, slope, pH, TDS, ORP, light reaching the stream, energy dissipated, discharge, and cumulative travel time were each significantly correlated with fish death. By using logistic regression, measurements of environmental conditions were paired with the responses of bioassay fish to develop a model that predicted the persistence of rotenone toxicity in streams. This model was validated with data from two additional stream treatment reaches. Rotenone persistence was predicted by a model that used travel time, rubble, and ORP. When this model predicts a probability of less than 0.95, those who apply rotenone can expect incomplete eradication and should plan on fortifying rotenone concentrations. The significance of travel time has been previously identified and is currently used to predict rotenone persistence. However, rubble substrate, which may be associated with the degradation of rotenone by adsorption and volatilization in turbulent environments, was not previously considered.

  17. Extending and implementing the Persistent ID pillars

    Science.gov (United States)

    Car, Nicholas; Golodoniuc, Pavel; Klump, Jens

    2017-04-01

    The recent double decade anniversary of scholarly persistent identifier use has triggered journal special editions such as "20 Years of Persistent Identifiers". For such a publication, it is apt to consider the longevity of some persistent identifier (PID) mechanisms (Digital Object Identifiers) and the partial disappearance of others (Life Sciences IDs). We have previously postulated a set of "PID Pillars" [1] which are design principles aimed at ensuring PIDs can survive technology and social change and thus persist for the long term that we have drawn from our observations of PIDs at work over many years. The principles: describe how to ensure identifiers' system and organisation independence; codify the delivery of essential PID system functions; mandate a separation of PID functions from data delivery mechanisms; and require generation of policies detailing how change is handled. In this presentation, first we extend on our previous work of introducing the pillars by refining their descriptions, giving specific suggestions for each and presenting some work that addresses them. Second, we propose a baseline data model for persistent identifiers that, if used, would assist the separation of PID metadata and PID system functioning. This would allow PID system function specifics to change over time (e.g. resolver services or even resolution protocols) and yet preserve the PIDs themselves. Third, we detail our existing PID system — the PID Service [2] — that partially implements the pillars and describe both its successes and shortcomings. Finally, we describe our planned next-generation system that will aim to use the baseline data model and fully implement the pillars.

  18. How to decode Unemployment Persistence: An econometric framework for identifying and comparing the sources of persistence

    DEFF Research Database (Denmark)

    Møller, Niels Framroze

    2016-01-01

    Most econometric analyses of persistence focus on the existence of non-stationary unemployment but not the origin of this. The present research contains a multivariate econometric framework for identifying and comparing different sources of unemployment persistence (e.g. hysteresis versus a slowly...... moving equilibrium rate). A small example, considering historical data (1988-2006) for the UK, demonstrates how the method can be applied in practice. Although this primarily serves as an illustration, the evidence clearly suggests that persistence was due to a slowly moving equilibrium (driven...

  19. Persistence of interest in science, technology, engineering and mathematics: An analysis of persisting and non-persisting students

    Science.gov (United States)

    White, Jeffry L.

    While there has been an increase in enrollment, interest in science, technology, engineering, and mathematics (STEM) has been declining on college campuses since 1967. Higher enrollment does not transfer to an increase in the number of minorities in the STEM fields. The majority-minority enrollment ratio is nearly 2:1 but the gap widens to 4:1 when it comes to graduation. In fact, underrepresented minorities (URM) earned only 12% of the STEM degrees awarded in 1998. When the higher attrition and lower graduation rates of URM are scrutinized, upwards of 60% changed majors or dropped out of STEM. Further investigation reveals the most frequently cited reasons for departure were loss of initial interest, developed a greater interest in another field, or were turned off by the STEM disciplines. A primarily exploratory study was conducted into the conditions necessary for academic interest in the STEM fields to persist. A model based on student engagement (Astin, 1977) and interest operations (Prenzel, 1988a) theories was used with a random sample of URM at universities participating in the Ohio Science and Engineering Alliance. Survey research was employed to investigate interest development and the effect of student retention programs and activities on such interest. The latter part of the study could not be fully examined when 95% reported not utilizing retention services. For the section on interest, an online survey using a 5-point Likert scale was validated using principal components analysis. A binominal logistic regression was used to predict membership in one of two possible groups: persisters and students at-risk for not persisting. The major conclusions are: (1) While 3 variables (feelings, learning and difficulty) were statistically significant only one, feelings was substantively significant. (2) Persistence increased 80.9% for each 1-unit increase in feelings and 9.9% for learning. (3) Persistence decreased 19.8% for each one-unit increase in difficulty

  20. Emotional persistence in online chatting communities

    Science.gov (United States)

    Garas, Antonios; Garcia, David; Skowron, Marcin; Schweitzer, Frank

    2012-05-01

    How do users behave in online chatrooms, where they instantaneously read and write posts? We analyzed about 2.5 million posts covering various topics in Internet relay channels, and found that user activity patterns follow known power-law and stretched exponential distributions, indicating that online chat activity is not different from other forms of communication. Analysing the emotional expressions (positive, negative, neutral) of users, we revealed a remarkable persistence both for individual users and channels. I.e. despite their anonymity, users tend to follow social norms in repeated interactions in online chats, which results in a specific emotional ``tone'' of the channels. We provide an agent-based model of emotional interaction, which recovers qualitatively both the activity patterns in chatrooms and the emotional persistence of users and channels. While our assumptions about agent's emotional expressions are rooted in psychology, the model allows to test different hypothesis regarding their emotional impact in online communication.

  1. Persistent hyperlactacidaemia: about a clinical case.

    Science.gov (United States)

    Oliveira, Ana Rita Saraiva; Valente, Rosalina; Ramos, José; Ventura, Lurdes

    2013-05-22

    Lactate is the endogenous end product of the anaerobic glycolysis, whose production is favoured in situations of hypoperfusion or mitochondrial dysfunction. Leigh syndrome is a rare, progressive encephalomyopathy that represents a spectrum of mitochondrial genetic diseases phenotypically distinct, but with neuroradiological and pathological uniform presentation. We present the case of a 7-month-old infant, with a history of prematurity, psychomotor retardation and epilepsy, admitted to the paediatric intensive care unit (PICU) due to cardio-respiratory arrest because of respiratory infection. Hyperlactacidaemia was detected and was persistent. The study of redox potential was normal but MRI with spectroscopy identified bilateral and symmetrical lesions involving thalamic and basal ganglia, with small lactate peaks at T2 flair, findings that were suggestive of Leigh syndrome. Subsequent enzymatic study identified lack of pyruvate dehydrogenase. Persistent hyperlactacidaemia, in the appropriate clinical context, should lead to the screening of mitochondrial diseases.

  2. Persistent pulmonary hypertension of the newborn.

    Science.gov (United States)

    Nair, P M C; Bataclan, Maria Flordeliz A

    2004-06-01

    This article attempts to define a complicated, yet not rare disease of the neonate, which presents with extreme hypoxemia due to increased pulmonary vascular resistance, resulting in diversion of the pulmonary venous blood through persistent fetal channels, namely ductus arteriosus and foramen ovale. Pathophysiology, diagnostic approach and the various modalities of management are analyzed. Persistent pulmonary hypertension of the newborn is multi-factorial, which is reflected in the management as well. These babies are extremely labile to hypoxia and should be stabilized with minimum handling. One hundred percent oxygen and ventilation are the mainstay of treatment. The role of hyperventilation, alkalinization, various non-specific vasodilators such as tolazoline, magnesium sulphate, selective vasodilators such as inhaled nitric oxide, adenosine and the role of high frequency oscillatory ventilation and extra corporeal membrane oxygenation are discussed. With the newer modalities of management, the outlook has improved with mortality of less than 20% and fewer long-term deficits.

  3. Patients with persistent medically unexplained physical symptoms

    DEFF Research Database (Denmark)

    A, Aamland; Malterud, Kirsti; Werner, E.

    2014-01-01

    for all variables and split analysis on gender and age. RESULTS: The GPs registered 526 patients among their total of 17 688 consultations, giving a consultation prevalence of persistent MUPS of 3%. The mean age of patients was 46 years, and 399 (76%) were women. The most frequent group of symptoms...... was musculoskeletal problems, followed by asthenia/fatigue. There was no significant gender difference in symptom pattern. Almost half of the patients were currently working (45%), significantly more men. The major GP management strategy was supportive counseling. CONCLUSION: A consultation prevalence rate of 3......% implies that patients with persistent MUPS are common in general practice. Our study disclosed heterogeneity among the patients such as differences in employment status, which emphasizes the importance of personalized focus rather than unsubstantiated stereotyping of "MUPS patients" as a group....

  4. Persistent Identifiers for Dutch cultural heritage institutions

    Science.gov (United States)

    Ras, Marcel; Kruithof, Gijsbert

    2016-04-01

    Over the past years, more and more collections belonging to archives, libraries, media, museums, and knowledge institutes are being digitised and made available online. These are exciting times for ALM institutions. They are realising that, in the information society, their collections are goldmines. Unfortunately most heritage institutions in the Netherlands do not yet meet the basic preconditions for long-term availability of their collections. The digital objects often have no long lasting fixed reference yet. URL's and web addresses change. Some digital objects that were referenced in Europeana and other portals can no longer be found. References in scientific articles have a very short life span, which is damaging for scholarly research. In 2015, the Dutch Digital Heritage Network (NDE) has started a two-year work program to co-ordinate existing initiatives in order to improve the (long-term) accessibility of the Dutch digital heritage for a wide range of users, anytime, anyplace. The Digital Heritage Network is a partnership established on the initiative of the Ministry of Education, Culture and Science. The members of the NDE are large, national institutions that strive to professionally preserve and manage digital data, e.g. the National Library, The Netherlands Institute for Sound and Vision, the Netherlands Cultural Heritage Agency, the Royal Netherlands Academy of Arts and Sciences, the National Archive of the Netherlands and the DEN Foundation, and a growing number of associations and individuals both within and outside the heritage sector. By means of three work programmes the goals of the Network should be accomplished and improve the visibility, the usability and the sustainability of digital heritage. Each programme contains of a set of projects. Within the sustainability program a project on creating a model for persistent identifiers is taking place. The main goals of the project are (1) raise awareness among cultural heritage institutions on the

  5. Persistent Aerial Tracking system for UAVs

    KAUST Repository

    Mueller, Matthias

    2016-12-19

    In this paper, we propose a persistent, robust and autonomous object tracking system for unmanned aerial vehicles (UAVs) called Persistent Aerial Tracking (PAT). A computer vision and control strategy is applied to a diverse set of moving objects (e.g. humans, animals, cars, boats, etc.) integrating multiple UAVs with a stabilized RGB camera. A novel strategy is employed to successfully track objects over a long period, by ‘handing over the camera’ from one UAV to another. We evaluate several state-of-the-art trackers on the VIVID aerial video dataset and additional sequences that are specifically tailored to low altitude UAV target tracking. Based on the evaluation, we select the leading tracker and improve upon it by optimizing for both speed and performance, integrate the complete system into an off-the-shelf UAV, and obtain promising results showing the robustness of our solution in real-world aerial scenarios.

  6. Persistent Aerial Tracking system for UAVs

    KAUST Repository

    Mueller, Matthias; Sharma, Gopal; Smith, Neil; Ghanem, Bernard

    2016-01-01

    In this paper, we propose a persistent, robust and autonomous object tracking system for unmanned aerial vehicles (UAVs) called Persistent Aerial Tracking (PAT). A computer vision and control strategy is applied to a diverse set of moving objects (e.g. humans, animals, cars, boats, etc.) integrating multiple UAVs with a stabilized RGB camera. A novel strategy is employed to successfully track objects over a long period, by ‘handing over the camera’ from one UAV to another. We evaluate several state-of-the-art trackers on the VIVID aerial video dataset and additional sequences that are specifically tailored to low altitude UAV target tracking. Based on the evaluation, we select the leading tracker and improve upon it by optimizing for both speed and performance, integrate the complete system into an off-the-shelf UAV, and obtain promising results showing the robustness of our solution in real-world aerial scenarios.

  7. Geometry Helps to Compare Persistence Diagrams

    Energy Technology Data Exchange (ETDEWEB)

    Kerber, Michael; Morozov, Dmitriy; Nigmetov, Arnur

    2015-11-16

    Exploiting geometric structure to improve the asymptotic complexity of discrete assignment problems is a well-studied subject. In contrast, the practical advantages of using geometry for such problems have not been explored. We implement geometric variants of the Hopcroft--Karp algorithm for bottleneck matching (based on previous work by Efrat el al.), and of the auction algorithm by Bertsekas for Wasserstein distance computation. Both implementations use k-d trees to replace a linear scan with a geometric proximity query. Our interest in this problem stems from the desire to compute distances between persistence diagrams, a problem that comes up frequently in topological data analysis. We show that our geometric matching algorithms lead to a substantial performance gain, both in running time and in memory consumption, over their purely combinatorial counterparts. Moreover, our implementation significantly outperforms the only other implementation available for comparing persistence diagrams.

  8. Imaging approach to persistent neonatal jaundice

    International Nuclear Information System (INIS)

    Kirks, D.; Coleman, R.E.; Filston, H.C.; Rosenberg, E.R.; Merten, D.F.

    1984-01-01

    Fifteen patients with persistent neonatal jaundice were evaluated by sonography and radionuclide scintigraphy. The sonographic features of both neonatal hepatitis and biliary atresia are nonspecific. Hepatobiliary scintigraphy after phenobarbital pretreatment in patients with neonatal hepatitis demonstrates normal hepatic extraction and delayed tracer excretion into the gastrointestinal tract. If there is neonatal hepatitis with severe hepatocellular damage, the hepatic extraction of tracer activity is decreased and excretion may be delayed or absent. Patients under 3 months of age with biliary atresia have normal hepatic extraction of tracer with no excretion into the gastrointestinal tract. Sonography in patients with a choledochal cyst shows a cystic mass in the porta hepatis with associated bile-duct dilatation. Hepatobiliary scintigraphy confirms that the choledochal cyst communicates with the biliary system. Initial sonography demonstrates hepatobiliary anatomy; subsequent phenobarbital-enhanced radionuclide scintigraphy determines hepatobiliary function. An expedient diagnostic approach is recommended for the evaluation of persistent neonatal jaundice

  9. Persistent hepatitis virus infection and immune homeostasis

    OpenAIRE

    ZHOU Yun

    2014-01-01

    Homeostasis between the host and viruses is naturally maintained. On the one hand, the immune system activates the immune response to kill or eliminate viruses; on the other hand, the immune system controls the immune response to maintain immune homeostasis. The cause of persistent infections with hepatitis viruses such as HBV and HCV is that viral molecules damage the immune system of the host and their variants escape immune clearance. Long-term coexistence of the host and viruses is the pr...

  10. The persistence of marketing effects on sales

    OpenAIRE

    Dekimpe, Marnik; Hanssens, DM

    1993-01-01

    Are marketing efforts able to affect long-term trends in sales or other performance measures? Answering this question is essential for the creation of marketing strategies that deliver a sustainable competitive advantage. This paper introduces persistence modeling to derive long-term marketing effectiveness from time-series observations on sales and marketing expenditures. First, we use unit-root tests to determine whether sales are stable or evolving (trending) over time. If they are evolvin...

  11. Mobility-induced persistent chimera states

    Science.gov (United States)

    Petrungaro, Gabriela; Uriu, Koichiro; Morelli, Luis G.

    2017-12-01

    We study the dynamics of mobile, locally coupled identical oscillators in the presence of coupling delays. We find different kinds of chimera states in which coherent in-phase and antiphase domains coexist with incoherent domains. These chimera states are dynamic and can persist for long times for intermediate mobility values. We discuss the mechanisms leading to the formation of these chimera states in different mobility regimes. This finding could be relevant for natural and technological systems composed of mobile communicating agents.

  12. Understanding and Responding to Persistently High Unemployment

    Science.gov (United States)

    2012-02-01

    Persistent Effects of Job Displacement: The Importance of Multiple Job Losses,” Journal of Labor Economics , vol. 15, no. 1, part 1 (January 1997), pp...Capital: Evidence from Displaced Workers,” Journal of Labor Economics , vol. 13, no. 4 (October 1995), pp. 653–677.one-third had trouble meeting...Effects of Worker Displacement,” Journal of Labor Economics , vol. 26, no. 3 (July 2008), pp. 455–483. completed its most recent economic forecast), that

  13. Actinomyces associated with persistent vaginal granulation tissue.

    OpenAIRE

    Wai, Clifford Y; Nihira, Mikio A; Drewes, Peter G; Chang, Joe S; Siddiqui, Momin T; Hemsell, David L

    2005-01-01

    BACKGROUND: We report a case of symptomatic actinomycosis associated with vaginal suture erosion and granulation tissue refractory to conservative management, in an outpatient setting. CASE: Three months after total vaginal hysterectomy and uterosacral ligament vaginal vault suspension, a woman complained of painless, intermittent vaginal discharge and spotting. Despite cauterization of granulation tissue, vaginal spotting persisted for another month. On re-examination, braided polyester sutu...

  14. Persistent postsurgical pain: risk factors and prevention

    DEFF Research Database (Denmark)

    Kehlet, Henrik; Jensen, Troels Staehelin; Woolf, Clifford J.

    2006-01-01

    therapy for postoperative pain should be investigated, since the intensity of acute postoperative pain correlates with the risk of developing a persistent pain state. Finally, the role of genetic factors should be studied, since only a proportion of patients with intraoperative nerve damage develop...... chronic pain. Based on information about the molecular mechanisms that affect changes to the peripheral and central nervous system in neuropathic pain, several opportunities exist for multimodal pharmacological intervention. Here, we outline strategies for identification of patients at risk...

  15. Information persistence using XML database technology

    Science.gov (United States)

    Clark, Thomas A.; Lipa, Brian E. G.; Macera, Anthony R.; Staskevich, Gennady R.

    2005-05-01

    The Joint Battlespace Infosphere (JBI) Information Management (IM) services provide information exchange and persistence capabilities that support tailored, dynamic, and timely access to required information, enabling near real-time planning, control, and execution for DoD decision making. JBI IM services will be built on a substrate of network centric core enterprise services and when transitioned, will establish an interoperable information space that aggregates, integrates, fuses, and intelligently disseminates relevant information to support effective warfighter business processes. This virtual information space provides individual users with information tailored to their specific functional responsibilities and provides a highly tailored repository of, or access to, information that is designed to support a specific Community of Interest (COI), geographic area or mission. Critical to effective operation of JBI IM services is the implementation of repositories, where data, represented as information, is represented and persisted for quick and easy retrieval. This paper will address information representation, persistence and retrieval using existing database technologies to manage structured data in Extensible Markup Language (XML) format as well as unstructured data in an IM services-oriented environment. Three basic categories of database technologies will be compared and contrasted: Relational, XML-Enabled, and Native XML. These technologies have diverse properties such as maturity, performance, query language specifications, indexing, and retrieval methods. We will describe our application of these evolving technologies within the context of a JBI Reference Implementation (RI) by providing some hopefully insightful anecdotes and lessons learned along the way. This paper will also outline future directions, promising technologies and emerging COTS products that can offer more powerful information management representations, better persistence mechanisms and

  16. Anomaly equations and the persistent mass condition

    International Nuclear Information System (INIS)

    Cohen, E.; Frishman, Y.

    1982-01-01

    Vector SU(Nsub(c)) gauge theories with nsub(f) flavors in the fundamental representation are considered. We prove that if the persistent mass condition is assumed, the two anomaly equations are identical and flavor independent for nsub(f) >= 3. Integer solutions exist only for nsub(f) = 2. The necessity of a separate discussion for 2 <= nsub(f) <= Nsub(c) is explained. (orig.)

  17. [Persistent duodenal septum in an adult].

    Science.gov (United States)

    Helwing, E; Echtermeyer, V; Otten, G

    1977-02-01

    A case of duodenal obstruction by a congenital duodenal web in a 34-year-old woman is presented. A mucosal diaphragm obstructed the duodenum. It showed an excentric opening of 0.8 cm diameter, but the dilated diaphragm caused a total stop during the last months. Despite a typical history, exact X-ray, and endoscopic examination, the correct preoperative diagnosis was not found, because nobody thought it possible, that a mucosal diapharm of the duodenum could persist for 34 years.

  18. Endorectal magnetic resonance imaging in persistent hemospermia

    International Nuclear Information System (INIS)

    Prando, Adilson

    2008-01-01

    Objective: To present the spectrum of abnormalities found at endorectal magnetic resonance imaging (E-MRI), in patients with persistent hemospermia. Materials and methods: A review of E-MRI findings observed in 86 patients with persistent hemospermia was performed and results compared with those reported in the literature. Follow-up was possible in 37 of 86 (43%) patients with hemospermia. Results: E-MRI showed abnormal findings in 52 of 86 (60%) patients with hemospermia. These findings were: a) hemorrhagic seminal vesicle and ejaculatory duct, isolated (n = 11 or 21%) or associated with complicated midline prostatic cyst (n = 10 or 19.0%); b) hemorrhagic chronic seminal vesiculitis, isolated (n = 14 or 27%) or associated with calculi within dilated ejaculatory ducts (n = 2 or 4 %); c) hemorrhagic seminal vesicle associated with calculi within dilated ejaculatory duct (n = 4 or 7.7%) or within seminal vesicle (n = 4 or 7.7%); d) non-complicated midline prostatic cyst (n = 6 or 11.5%); and e) prostate cancer (n = 1 or 2%). Successful treatment was more frequent in patients with chronic inflammatory and/or obstructive abnormalities. Conclusion: E-MRI should be considered the modality of choice, for the evaluation of patients with persistent hemospermia. (author)

  19. Endorectal magnetic resonance imaging in persistent hemospermia

    Energy Technology Data Exchange (ETDEWEB)

    Prando, Adilson [Vera Cruz Hospital, Campinas, SP (Brazil). Dept. of Radiology and Diagnostic Imaging

    2008-03-15

    Objective: To present the spectrum of abnormalities found at endorectal magnetic resonance imaging (E-MRI), in patients with persistent hemospermia. Materials and methods: A review of E-MRI findings observed in 86 patients with persistent hemospermia was performed and results compared with those reported in the literature. Follow-up was possible in 37 of 86 (43%) patients with hemospermia. Results: E-MRI showed abnormal findings in 52 of 86 (60%) patients with hemospermia. These findings were: a) hemorrhagic seminal vesicle and ejaculatory duct, isolated (n = 11 or 21%) or associated with complicated midline prostatic cyst (n = 10 or 19.0%); b) hemorrhagic chronic seminal vesiculitis, isolated (n = 14 or 27%) or associated with calculi within dilated ejaculatory ducts (n = 2 or 4 %); c) hemorrhagic seminal vesicle associated with calculi within dilated ejaculatory duct (n = 4 or 7.7%) or within seminal vesicle (n = 4 or 7.7%); d) non-complicated midline prostatic cyst (n = 6 or 11.5%); and e) prostate cancer (n = 1 or 2%). Successful treatment was more frequent in patients with chronic inflammatory and/or obstructive abnormalities. Conclusion: E-MRI should be considered the modality of choice, for the evaluation of patients with persistent hemospermia. (author)

  20. Lactase Non-persistence and Lactose Intolerance.

    Science.gov (United States)

    Bayless, Theodore M; Brown, Elizabeth; Paige, David M

    2017-05-01

    To evaluate the clinical and nutritional significance of genetically determined lactase non-persistence and potential lactose and milk intolerance in 65-70% of the world's adult population. Milk consumption is decreasing in the USA and is the lowest in countries with a high prevalence of lactase non-persistence. The dairy industry and Minnesota investigators have made efforts to minimize the influence of lactose intolerance on milk consumption. Some lactose intolerant individuals, without co-existent irritable bowel syndrome, are able to consume a glass of milk with a meal with no or minor symptoms. The high frequency of lactase persistence in offspring of Northern European countries and in some nomadic African tribes is due to mutations in the promoter of the lactase gene in association with survival advantage of milk drinking. Educational and commercial efforts to improve calcium and Vitamin D intake have focused on urging consumption of tolerable amounts of milk with a meal, use of lowered lactose-content foods including hard cheeses, yogurt, and lactose-hydrolyzed milk products.

  1. Persistent physical symptoms as perceptual dysregulation

    DEFF Research Database (Denmark)

    Henningsen, Peter; Gündel, Harald; Kop, Willem J

    2018-01-01

    OBJECTIVE: The mechanisms underlying the perception and experience of persistent physical symptoms are not well understood, and in the models, the specific relevance of peripheral input versus central processing, or of neurobiological versus psychosocial factors in general, is not clear.In this a......OBJECTIVE: The mechanisms underlying the perception and experience of persistent physical symptoms are not well understood, and in the models, the specific relevance of peripheral input versus central processing, or of neurobiological versus psychosocial factors in general, is not clear.......In this article, we propose a model for this clinical phenomenon that is designed to be coherent with an underlying, relatively new model of the normal brain functions involved in the experience of bodily signals. METHODS: Based on a review of recent literature we describe central elements of this model and its...... of predictions and sensory input. Two possibilities exist: adaptation of the generative model underlying the predictions or alteration of the sensory input via autonomic nervous activation (in the case of interoception). Following this model, persistent physical symptoms can be described as "failures...

  2. Persistent producer-scrounger relationships in bats.

    Science.gov (United States)

    Harten, Lee; Matalon, Yasmin; Galli, Naama; Navon, Hagit; Dor, Roi; Yovel, Yossi

    2018-02-01

    Social foraging theory suggests that group-living animals gain from persistent social bonds, which lead to increased tolerance in competitive foraging and information sharing. Bats are among the most social mammals, often living in colonies of tens to thousands of individuals for dozens of years, yet little is known about their social foraging dynamics. We observed three captive bat colonies for over a year, quantifying >13,000 social foraging interactions. We found that individuals consistently used one of two foraging strategies, either producing (collecting) food themselves or scrounging it directly from the mouth of other individuals. Individual foraging types were consistent over at least 16 months except during the lactation period when females shifted toward producing. Scroungers intentionally selected whom to interact with when socially foraging, thus generating persistent nonrandom social relationships with two to three specific producers. These persistent producer-scrounger relationships seem to reduce aggression over time. Finally, scrounging was highly correlated with vigilance, and we hypothesize that vigilant-prone individuals turn to scrounging in the wild to mitigate the risk of landing on a potentially unsafe fruit tree. We find the bat colony to be a rich and dynamic social system, which can serve as a model to study the role that social foraging plays in the evolution of mammalian sociality. Our results highlight the importance of considering individual tendencies when exploring social behavior patterns of group-living animals. These tendencies further emphasize the necessity of studying social networks over time.

  3. Overview of persistent pain in older adults.

    Science.gov (United States)

    Molton, Ivan R; Terrill, Alexandra L

    2014-01-01

    With the shifting age demographics of the U.S. population, more psychologists will be asked to provide clinical services to older adults. Given the high prevalence of persistent pain in aging, in many cases this will mean providing empirically supported interventions for pain and the interference it creates. The purpose of this review is to provide a broad overview of the scope and impact of persistent pain in older people and to discuss mechanisms by which persistent geriatric pain can lead to suffering and disability. We consider the unique context of pain in older adulthood and review differences between older and younger people in terms of pain perception, the social network, beliefs about pain, pain-related coping, and adherence to pain medication. Finally, we discuss special issues affecting pain management in older adults, including dementia, polypharmacy, and barriers to accessing adequate pain care. This review also highlights a need for greater provider training in pain management to meet the needs of a changing U.S. population. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  4. Sputum Neutrophilia in Severe Persistent Asthmatics

    International Nuclear Information System (INIS)

    Naseem, A.; Zaidi, S. B. H.; Liaqat, J.; Iftikhar, R.

    2014-01-01

    Objective: To determine the frequency of sputum neutrophilia in patients with severe persistent bronchial asthma. Study Design: A cross-sectional study. Place and Duration of Study: Department of Medicine, Military Hospital, Rawalpindi, from November 2009 to November 2010. Methodology: Cases of severe persistent bronchial asthma, aged between 12 and 40 years, were included. Sputum samples were collected by induction with hypertonic saline (4.5%). All samples were centrifuged and differential neutrophil count was calculated. Data was analyzed using SPSS 11. Results: Out of 195 patients, there were 129 (66.2%) males and 66 (33.8%) females. The mean age was 27.01 A +- 6.92 years. Mean sputum neutrophilic count was 126.47 A +- 16.52 x 106/ml and the mean neutrophilic percentage was 63.187 A +- 8.3363. Sputum neutrophilia was present in 84 patients (43.1%), out of whom, 56 were males and 28 females. In patients with sputum neutrophilia, mean neutrophilic count was 142.40 A +- 8.49 x 106/ml and the mean neutrophilic percentage was 71.2024 A +- 4.2441%. Conclusion: Sputum neutrophilia is a frequent finding in cases with severe persistent bronchial asthma. Presence of sputum neutrophilia in such cases can lessen the inappropriate use of corticosteroids with their associated long-term side effects. (author)

  5. University Experiences and Women Engineering Student Persistence

    Science.gov (United States)

    Ayers, LoAnn Debra Gienger

    Riverside University (a pseudonym), like many universities, has not significantly increased the number of women who graduate with bachelor's degrees in engineering. The purpose of the study is to understand how the university experiences of women students influence the decision to persist in an undergraduate engineering degree and to understand the role of self-perception in how the students perceive experiences as supporting or hindering their persistence in the major. Archival data, documents and artifacts, observations, individual interviews, and a focus group with women engineering students provide insights into students' perceived barriers and supports of student success. Analysis of the data results in two major themes. First, students' self-confidence and self-efficacy influence how women assimilate university experiences as either supportive or diminishing of academic success. Second, university policies and practices shape the campus environment within which student experiences are formed and influence a student's level of institutional, academic, and social integration. The results of the study indicate opportunities for university leadership to enhance strategies that positively shape students' institutional, academic and social integration as precursors toward increasing the number of women students who successfully complete undergraduate engineering degrees at Riverside University. Future research is indicated to better understand how gender and gender identity intersects with other demographic factors, such as socio-economic status, immigration status, and life stage (e.g., traditional versus non-traditional students), to support or deter the persistence of engineering students to degree completion.

  6. Adolescents' experience of complex persistent pain.

    Science.gov (United States)

    Sørensen, Kari; Christiansen, Bjørg

    2017-04-01

    Persistent (chronic) pain is a common phenomenon in adolescents. When young people are referred to a pain clinic, they usually have amplified pain signals, with pain syndromes of unconfirmed ethology, such as fibromyalgia and complex regional pain syndrome (CRPS). Pain is complex and seems to be related to a combination of illness, injury, psychological distress, and environmental factors. These young people are found to have higher levels of distress, anxiety, sleep disturbance, and lower mood than their peers and may be in danger of entering adulthood with mental and physical problems. In order to understand the complexity of persistent pain in adolescents, there seems to be a need for further qualitative research into their lived experiences. The aim of this study was to explore adolescents' experiences of complex persistent pain and its impact on everyday life. The study has an exploratory design with individual in-depth interviews with six youths aged 12-19, recruited from a pain clinic at a main referral hospital in Norway. A narrative approach allowed the informants to give voice to their experiences concerning complex persistent pain. A hermeneutic analysis was used, where the research question was the basis for a reflective interpretation. Three main themes were identified: (1) a life with pain and unpleasant bodily expressions; (2) an altered emotional wellbeing; and (3) the struggle to keep up with everyday life. The pain was experienced as extremely strong, emerging from a minor injury or without any obvious causation, and not always being recognised by healthcare providers. The pain intensity increased as the suffering got worse, and the sensation was hard to describe with words. Parts of their body could change in appearance, and some described having pain-attacks or fainting. The feeling of anxiety was strongly connected to the pain. Despair and uncertainty contributed to physical disability, major sleep problems, school absence, and withdrawal from

  7. Trustworthy persistent identifier systems of the future

    Science.gov (United States)

    Golodoniuc, Pavel; Klump, Jens; Car, Nicholas

    2016-04-01

    Over the last two decades, persistent identifier (PID) systems have seen some significant changes in their governance policies, system capabilities, and technology. The development of most systems was driven by two main application areas, namely archives and libraries. Guidelines and criteria for trustworthy PID systems have been clearly devised (Bütikofer, 2009) and many PID system implementations for the identification of static digital objects have been built (e.g., PURL). However systems delivering persistent identifiers for dynamic datasets are not yet mature. There has been a rapid proliferation of different PID systems caused by the specific technical or organisational requirements of various communities that could not be met by existing systems such as DOI, ISBN, and EAN. Many of these different systems were limited by their inability to provide native means of persistent identifier resolution. This has prompted a decoupling of PID-associated data from the resolution service and this is where the Handle system has played a significant role. The Handle allowed to build a distributed system of independently managed resolver services. A trustworthy PID system must be designed to outlive the objects it provides persistent identifiers for, which may cease to exist or otherwise be deprecated, and the technology used to implement it, which will certainly need to change with time. We propose that such a system should rest on four pillars of agreements - (i) definitions, (ii) policies, (iii) services, and (iv) data services, to ensure longevity. While we believe all four pillars are equally important, we intentionally leave regulating aspects of issuing of identifiers and their registration out of the scope of this paper and focus on the agreements that have to be established between PID resolver services and the data sources indicated by the persistent identifiers. We propose an approach to development of PID systems that combines the use of (a) the Handle system

  8. Lidocaine Patch (5%) in Treatment of Persistent Inguinal Postherniorrhaphy Pain

    DEFF Research Database (Denmark)

    Bischoff, Joakim M; Petersen, Marian; Uçeyler, Nurcan

    2013-01-01

    Evidence-based pharmacological treatment options for patients with persistent inguinal postherniorrhaphy pain are lacking.......Evidence-based pharmacological treatment options for patients with persistent inguinal postherniorrhaphy pain are lacking....

  9. Factors associated with persistent airflow limitation in severe asthma

    NARCIS (Netherlands)

    ten Brinke, A.; Zwinderman, A. H.; Sterk, P. J.; Rabe, K. F.; Bel, E. H.

    2001-01-01

    Persistent airflow limitation can develop in nonsmoking patients with asthma. However, the prevalence and risk factors for airways obstruction with incomplete reversibility in asthma are unknown. We assessed the prevalence of persistent airflow limitation (defined as postbronchodilator FEV(1) or

  10. A minimally invasive option for the treatment of persistent ...

    African Journals Online (AJOL)

    . Hospital, King Saud ... We present two patients with persistent esophageal leak after compli- .... easy, and quite effective in the management of persistent ... 6 Rakocz M, Mazar A, Varon D, Spierer S, Blinder D, Martinowitz U. Dental extractions ...

  11. Variable Persister Gene Interactions with (pppGpp for Persister Formation in Escherichia coli

    Directory of Open Access Journals (Sweden)

    Shuang Liu

    2017-09-01

    Full Text Available Persisters comprise a group of phenotypically heterogeneous metabolically quiescent bacteria with multidrug tolerance and contribute to the recalcitrance of chronic infections. Although recent work has shown that toxin-antitoxin (TA system HipAB depends on stringent response effector (pppGppin persister formation, whether other persister pathways are also dependent on stringent response has not been explored. Here we examined the relationship of (pppGpp with 15 common persister genes (dnaK, clpB, rpoS, pspF, tnaA, sucB, ssrA, smpB, recA, umuD, uvrA, hipA, mqsR, relE, dinJ using Escherichia coli as a model. By comparing the persister levels of wild type with their single gene knockout and double knockout mutants with relA, we divided their interactions into five types, namely A “dependent” (dnaK, recA, B “positive reinforcement” (rpoS, pspF, ssrA, recA, C “antagonistic” (clpB, sucB, umuD, uvrA, hipA, mqsR, relE, dinJ, D “epistasis” (clpB, rpoS, tnaA, ssrA, smpB, hipA, and E “irrelevant” (dnaK, clpB, rpoS, tnaA, sucB, smpB, umuD, uvrA, hipA, mqsR, relE, dinJ. We found that the persister gene interactions are intimately dependent on bacterial culture age, cell concentrations (diluted versus undiluted culture, and drug classifications, where the same gene may belong to different groups with varying antibiotics, culture age or cell concentrations. Together, this study represents the first attempt to systematically characterize the intricate relationships among the different mechanisms of persistence and as such provide new insights into the complexity of the persistence phenomenon at the level of persister gene network interactions.

  12. Prediction of antibody persistency from antibody titres to natalizumab

    DEFF Research Database (Denmark)

    Jensen, Poul Erik H; Koch-Henriksen, Nils; Sellebjerg, Finn

    2012-01-01

    In a subgroup of patients with multiple sclerosis natalizumab therapy causes generation of anti-natalizumab antibodies that may be transient or persistent. It is recommended to discontinue natalizumab therapy in persistently antibody-positive patients.......In a subgroup of patients with multiple sclerosis natalizumab therapy causes generation of anti-natalizumab antibodies that may be transient or persistent. It is recommended to discontinue natalizumab therapy in persistently antibody-positive patients....

  13. BEAM-BASED MEASUREMENTS OF PERSISTENT CURRENT DECAY IN RHIC

    International Nuclear Information System (INIS)

    FISCHER, W.; JAIN, A.; TEPIKIAN, S.

    2001-01-01

    The two RHIC rings are equipped with superconducting dipole magnets. At injection, induced persistent currents in these magnets lead to a sextupole component. As the persistent currents decay with time, the horizontal and vertical chromaticities change. From magnet measurements of persistent current decays, chromaticity changes in the machine are estimated and compared with chromaticity measurements

  14. Persistent Structural Priming from Language Comprehension to Language Production

    Science.gov (United States)

    Bock, Kathryn; Dell, Gary S.; Chang, Franklin; Onishi, Kristine H.

    2007-01-01

    To examine the relationship between syntactic processes in language comprehension and language production, we compared structural persistence from sentence primes that speakers heard to persistence from primes that speakers produced. [Bock, J. K., & Griffin, Z. M. (2000). The persistence of structural priming: transient activation or implicit…

  15. Bacterial persistence: some new insights into an old phenomenon

    Indian Academy of Sciences (India)

    PRAKASH KUMAR

    the involvement of the alarmone (p) ppGpp in the generation of persisters. However, the precise mechanisms are ... Bigger noticed that treatment of cultures of Staphylococcus aureus with high concentrations of ...... Li Y and Zhang Y 2007 pho U is a persister switch involved in persister formation and tolerance to multiple ...

  16. Volatility persistence in crude oil markets

    International Nuclear Information System (INIS)

    Charles, Amélie; Darné, Olivier

    2014-01-01

    Financial market participants and policy-makers can benefit from a better understanding of how shocks can affect volatility over time. This study assesses the impact of structural changes and outliers on volatility persistence of three crude oil markets – Brent, West Texas Intermediate (WTI) and Organization of Petroleum Exporting Countries (OPEC) – between January 2, 1985 and June 17, 2011. We identify outliers using a new semi-parametric test based on conditional heteroscedasticity models. These large shocks can be associated with particular event patterns, such as the invasion of Kuwait by Iraq, the Operation Desert Storm, the Operation Desert Fox, and the Global Financial Crisis as well as OPEC announcements on production reduction or US announcements on crude inventories. We show that outliers can bias (i) the estimates of the parameters of the equation governing volatility dynamics; (ii) the regularity and non-negativity conditions of GARCH-type models (GARCH, IGARCH, FIGARCH and HYGARCH); and (iii) the detection of structural breaks in volatility, and thus the estimation of the persistence of the volatility. Therefore, taking into account the outliers on the volatility modelling process may improve the understanding of volatility in crude oil markets. - Highlights: • We study the impact of outliers on volatility persistence of crude oil markets. • We identify outliers and patches of outliers due to specific events. • We show that outliers can bias (i) the estimates of the parameters of GARCH models, (ii) the regularity and non-negativity conditions of GARCH-type models, (iii) the detection of structural breaks in volatility of crude oil markets

  17. MR imaging of persistent primitive trigeminal artery

    International Nuclear Information System (INIS)

    Ashikaga, Ryuichiro; Araki, Yutaka; Ono, Yukihiko; Ishida, Osamu; Mabuchi, Nobuhisa.

    1997-01-01

    The persistent trigeminal artery is the most common anomaly of the primitive carotid-vertebrobasilar anastomoses. We reviewed MR images and MR angiographies of 11 patients with primitive trigeminal artery. In 8 of the 11 cases, PTA were identified with conventional long TR spin-echo images. In 8 of 11 cases, a hypoplastic basilar trunk associated with PTA was seen on both MR images and MR angiographies. In 7 of 11 cases, a hypoplasia or agenesis of the ipsilateral posterior communicating artery was seen on MR angiographies. (author)

  18. Calculation of persistent currents in superconducting magnets

    Directory of Open Access Journals (Sweden)

    C. Völlinger

    2000-12-01

    Full Text Available This paper describes a semianalytical hysteresis model for hard superconductors. The model is based on the critical state model considering the dependency of the critical current density on the varying local field in the superconducting filaments. By combining this hysteresis model with numerical field computation methods, it is possible to calculate the persistent current multipole errors in the magnet taking local saturation effects in the magnetic iron parts into consideration. As an application of the method, the use of soft magnetic iron sheets (coil protection sheets mounted between the coils and the collars for partial compensation of the multipole errors during the ramping of the magnets is investigated.

  19. Trust and persistence for Internet resources

    Directory of Open Access Journals (Sweden)

    Maurizio Lunghi

    2013-01-01

    Full Text Available Internet has changed our way of working, communicating, living, producing and accessing information, everything available on an open and flexible infrastructure accessible to all the users mainly free of cost. However in some cases, it’s not only important to find information but also having information about its authenticity, integrity, provenance and relations with other pieces of information. Systems for certification using URN technology like the persistent identifiers for digital objects, for authors and for bodies can extremely help in order to refine the quality of information retrievable from Internet and to increase largely its usability and potential development.

  20. Persistently increased intestinal fraction of alkaline phosphatase

    DEFF Research Database (Denmark)

    Nathan, E; Baatrup, G; Berg, H

    1984-01-01

    Persistent elevation of the intestinal fraction of the alkaline phosphatase (API) as an isolated finding has to our knowledge not been reported previously. It was found in a boy followed during a period of 5.5 years. The only symptom was transient periodic fatigue observed at home, but not apparent...... during hospitalization. His blood type was O, RH+, Le (a-, b+) and he was a secretor of H-substance, which may be associated with rising API activity after fat-loading. In this case API was unchanged after fat-loading. Neither intestinal nor liver diseases were found, and no other cause for the elevated...

  1. Distributed design approach in persistent identifiers systems

    Science.gov (United States)

    Golodoniuc, Pavel; Car, Nicholas; Klump, Jens

    2017-04-01

    The need to identify both digital and physical objects is ubiquitous in our society. Past and present persistent identifier (PID) systems, of which there is a great variety in terms of technical and social implementations, have evolved with the advent of the Internet, which has allowed for globally unique and globally resolvable identifiers. PID systems have catered for identifier uniqueness, integrity, persistence, and trustworthiness, regardless of the identifier's application domain, the scope of which has expanded significantly in the past two decades. Since many PID systems have been largely conceived and developed by small communities, or even a single organisation, they have faced challenges in gaining widespread adoption and, most importantly, the ability to survive change of technology. This has left a legacy of identifiers that still exist and are being used but which have lost their resolution service. We believe that one of the causes of once successful PID systems fading is their reliance on a centralised technical infrastructure or a governing authority. Golodoniuc et al. (2016) proposed an approach to the development of PID systems that combines the use of (a) the Handle system, as a distributed system for the registration and first-degree resolution of persistent identifiers, and (b) the PID Service (Golodoniuc et al., 2015), to enable fine-grained resolution to different information object representations. The proposed approach solved the problem of guaranteed first-degree resolution of identifiers, but left fine-grained resolution and information delivery under the control of a single authoritative source, posing risk to the long-term availability of information resources. Herein, we develop these approaches further and explore the potential of large-scale decentralisation at all levels: (i) persistent identifiers and information resources registration; (ii) identifier resolution; and (iii) data delivery. To achieve large-scale decentralisation

  2. Persistence of innovation in unstable environments

    DEFF Research Database (Denmark)

    Suarez, Diana Valeria

    2014-01-01

    of the environment impact on the type of profitable innovations, and past innovations might not be suitable for the new environment. As a result, firm's innovative behavior might change, which means that the firm's set of decisions about engaging in the seek for innovations or not and, if so, the set of investments...... during 1998-2006, which coincides with a period of macroeconomic instability. Results suggest that persistence has to be analyzed in terms of a dynamic firm's innovative behavior - regardless of its results - and how it allows the firm to accumulate competences and resources, which increases the odds...... of successfully responding to changes in the environment and continuing to innovate....

  3. Grails Persistence with GORM and GSQL

    CERN Document Server

    Fischer, Robert

    2009-01-01

    Unique to the popular Grails web framework is its architecture. While other frameworks are built from the ground up, Grails leverages existing and proven technologies that already have advanced functionality built in. One of the key technologies in this architecture is Hibernate, on top of which Grails builds its GORM (Grails Object Relational Mapping) model layer. This provides Grails a persistence solution. Published with the developer in mind, firstPress technical briefs explore emerging technologies that have the potential to be critical for tomorrow's industry. Apress keeps developers one

  4. Neonatal thyrotoxicosis presenting as persistent pulmonary hypertension

    Science.gov (United States)

    Obeid, Rawad; Kalra, Vaneet Kumar; Arora, Prem; Quist, Felix; Moltz, Kathleen C; Chouthai, Nitin Shashikant

    2012-01-01

    Neonatal hyperthyroidism is a rare condition caused either by transplacental passage of thyroid-stimulating immunoglobulins from a mother with Graves’ disease or by activating mutations of the thyrotropin receptors and α-subunit of G-protein. The clinical features may vary. We report a case of neonatal thyrotoxicosis in an infant born to a mother with Graves’ disease, who presented with cardiorespiratory failure and persistent pulmonary hypertension (PPHN). PPHN resolved with specific antithyroid treatment and extracorporeal membrane oxygenation was not required. PMID:22669869

  5. Gravity in one dimension - Persistence of correlation

    International Nuclear Information System (INIS)

    Miller, B.N.; Reidl, C.J. Jr.

    1990-01-01

    Central questions are concerning the thermalization time-scale in a one-dimensional, self-gravitating system are addressed in the present consideration of the persistent correlation between the positions and velocities of the mass-sheets. An algorithm developed for testing thermalization in the one-dimensional gravitating system was applied to the logistic map as a control; the parameter value associated with global chaos yields complete agreement with theoretical prediction. The implications of these results for gravitational interaction in higher dimension should be considered. 26 refs

  6. Explaining evolution via constrained persistent perfect phylogeny

    Science.gov (United States)

    2014-01-01

    Background The perfect phylogeny is an often used model in phylogenetics since it provides an efficient basic procedure for representing the evolution of genomic binary characters in several frameworks, such as for example in haplotype inference. The model, which is conceptually the simplest, is based on the infinite sites assumption, that is no character can mutate more than once in the whole tree. A main open problem regarding the model is finding generalizations that retain the computational tractability of the original model but are more flexible in modeling biological data when the infinite site assumption is violated because of e.g. back mutations. A special case of back mutations that has been considered in the study of the evolution of protein domains (where a domain is acquired and then lost) is persistency, that is the fact that a character is allowed to return back to the ancestral state. In this model characters can be gained and lost at most once. In this paper we consider the computational problem of explaining binary data by the Persistent Perfect Phylogeny model (referred as PPP) and for this purpose we investigate the problem of reconstructing an evolution where some constraints are imposed on the paths of the tree. Results We define a natural generalization of the PPP problem obtained by requiring that for some pairs (character, species), neither the species nor any of its ancestors can have the character. In other words, some characters cannot be persistent for some species. This new problem is called Constrained PPP (CPPP). Based on a graph formulation of the CPPP problem, we are able to provide a polynomial time solution for the CPPP problem for matrices whose conflict graph has no edges. Using this result, we develop a parameterized algorithm for solving the CPPP problem where the parameter is the number of characters. Conclusions A preliminary experimental analysis shows that the constrained persistent perfect phylogeny model allows to

  7. Gate-controlled switching between persistent and inverse persistent spin helix states

    International Nuclear Information System (INIS)

    Yoshizumi, K.; Sasaki, A.; Kohda, M.; Nitta, J.

    2016-01-01

    We demonstrate gate-controlled switching between persistent spin helix (PSH) state and inverse PSH state, which are detected by quantum interference effect on magneto-conductance. These special symmetric spin states showing weak localization effect give rise to a long spin coherence when the strength of Rashba spin-orbit interaction (SOI) is close to that of Dresselhaus SOI. Furthermore, in the middle of two persistent spin helix states, where the Rashba SOI can be negligible, the bulk Dresselhaus SOI parameter in a modulation doped InGaAs/InAlAs quantum well is determined.

  8. Gate-controlled switching between persistent and inverse persistent spin helix states

    Energy Technology Data Exchange (ETDEWEB)

    Yoshizumi, K.; Sasaki, A.; Kohda, M.; Nitta, J. [Department of Materials Science, Tohoku University, Sendai 980-8579 (Japan)

    2016-03-28

    We demonstrate gate-controlled switching between persistent spin helix (PSH) state and inverse PSH state, which are detected by quantum interference effect on magneto-conductance. These special symmetric spin states showing weak localization effect give rise to a long spin coherence when the strength of Rashba spin-orbit interaction (SOI) is close to that of Dresselhaus SOI. Furthermore, in the middle of two persistent spin helix states, where the Rashba SOI can be negligible, the bulk Dresselhaus SOI parameter in a modulation doped InGaAs/InAlAs quantum well is determined.

  9. PERSISTENT ORGANIC POLLUTANS (POPS DAN KONVENSI STOCKHOLM

    Directory of Open Access Journals (Sweden)

    Lina Warlina

    2010-07-01

    Full Text Available Persistent organic pollutants (POPs are toxic chemicals that adversely affect human health and the environment around the world. Because they can be transported by wind and water, most POPs generated in one country can affect people and wildlife far from where they are used and released. They persist for long periods of time in the environment and can accumulate and pass from one species to the next through the food chain. To address this global concern, many countries in the world joined forces with 90 other countries and the European Community to sign a groundbreaking United Nations treaty in Stockholm, Sweden, in May 2001, known as the Stockholm Convention. One of important agreement is all countries agreed to reduce or eliminate the production, use, and/or release of 12 key POPs. The Convention specifies a scientific review process that could lead to the addition of other POPs chemicals of global concern. POPs include a range of substances that include intentionally produced chemicals currently or once used in agriculture, disease control, manufacturing, or industrial processes. Also it can be produced by unintentionally produced chemicals, such as dioxins, that result from some industrial processes and from combustion (for example, municipal and medical waste incineration and backyard burning of trash.

  10. Persistent viral infections and immune aging.

    Science.gov (United States)

    Brunner, Stefan; Herndler-Brandstetter, Dietmar; Weinberger, Birgit; Grubeck-Loebenstein, Beatrix

    2011-07-01

    Immunosenescence comprises a set of dynamic changes occurring to both, the innate as well as the adaptive immune system that accompany human aging and result in complex manifestations of still poorly defined deficiencies in the elderly population. One of the most prominent alterations during aging is the continuous involution of the thymus gland which is almost complete by the age of 50. Consequently, the output of naïve T cells is greatly diminished in elderly individuals which puts pressure on homeostatic forces to maintain a steady T cell pool for most of adulthood. In a great proportion of the human population, this fragile balance is challenged by persistent viral infections, especially Cytomegalovirus (CMV), that oblige certain T cell clones to monoclonally expand repeatedly over a lifetime which then occupy space within the T cell pool. Eventually, these inflated memory T cell clones become exhausted and their extensive accumulation accelerates the age-dependent decline of the diversity of the T cell pool. As a consequence, infectious diseases are more frequent and severe in elderly persons and immunological protection following vaccination is reduced. This review therefore aims to shed light on how various types of persistent viral infections, especially CMV, influence the aging of the immune system and highlight potential measures to prevent the age-related decline in immune function. Copyright © 2010 Elsevier B.V. All rights reserved.

  11. Cosmic radiation exposure and persistent cognitive dysfunction

    Science.gov (United States)

    Parihar, Vipan K.; Allen, Barrett D.; Caressi, Chongshan; Kwok, Stephanie; Chu, Esther; Tran, Katherine K.; Chmielewski, Nicole N.; Giedzinski, Erich; Acharya, Munjal M.; Britten, Richard A.; Baulch, Janet E.; Limoli, Charles L.

    2016-01-01

    The Mars mission will result in an inevitable exposure to cosmic radiation that has been shown to cause cognitive impairments in rodent models, and possibly in astronauts engaged in deep space travel. Of particular concern is the potential for cosmic radiation exposure to compromise critical decision making during normal operations or under emergency conditions in deep space. Rodents exposed to cosmic radiation exhibit persistent hippocampal and cortical based performance decrements using six independent behavioral tasks administered between separate cohorts 12 and 24 weeks after irradiation. Radiation-induced impairments in spatial, episodic and recognition memory were temporally coincident with deficits in executive function and reduced rates of fear extinction and elevated anxiety. Irradiation caused significant reductions in dendritic complexity, spine density and altered spine morphology along medial prefrontal cortical neurons known to mediate neurotransmission interrogated by our behavioral tasks. Cosmic radiation also disrupted synaptic integrity and increased neuroinflammation that persisted more than 6 months after exposure. Behavioral deficits for individual animals correlated significantly with reduced spine density and increased synaptic puncta, providing quantitative measures of risk for developing cognitive impairment. Our data provide additional evidence that deep space travel poses a real and unique threat to the integrity of neural circuits in the brain. PMID:27721383

  12. PERSISTENCE MAPPING USING EUV SOLAR IMAGER DATA

    Energy Technology Data Exchange (ETDEWEB)

    Thompson, B. J. [NASA Goddard Space Flight Center, Code 671, Greenbelt, MD 20771 (United States); Young, C. A., E-mail: barbara.j.thompson@nasa.gov [NASA Goddard Space Flight Center, Code 670, Greenbelt, MD 20771 (United States)

    2016-07-01

    We describe a simple image processing technique that is useful for the visualization and depiction of gradually evolving or intermittent structures in solar physics extreme-ultraviolet imagery. The technique is an application of image segmentation, which we call “Persistence Mapping,” to isolate extreme values in a data set, and is particularly useful for the problem of capturing phenomena that are evolving in both space and time. While integration or “time-lapse” imaging uses the full sample (of size N ), Persistence Mapping rejects ( N − 1)/ N of the data set and identifies the most relevant 1/ N values using the following rule: if a pixel reaches an extreme value, it retains that value until that value is exceeded. The simplest examples isolate minima and maxima, but any quantile or statistic can be used. This paper demonstrates how the technique has been used to extract the dynamics in long-term evolution of comet tails, erupting material, and EUV dimming regions.

  13. Microbial Biofilms: Persisters, Tolerance and Dosing

    Science.gov (United States)

    Cogan, N. G.

    2005-03-01

    Almost all moist surfaces are colonized by microbial biofilms. Biofilms are implicated in cross-contamination of food products, biofouling, medical implants and various human infections such as dental cavities, ulcerative colitis and chronic respiratory infections. Much of current research is focused on the recalcitrance of biofilms to typical antibiotic and antimicrobial treatments. Although the polymer component of biofilms impedes the penetration of antimicrobials through reaction-diffusion limitation, this does not explain the observed tolerance, it merely delays the action of the agent. Heterogeneities in growth-rate also slow the eradication of the bacteria since most antimicrobials are far less effective for non-growing, or slowly growing bacteria. This also does not fully describe biofilm tolerance, since heterogeneities arr primairly a result of nutrient consumption. In this investigation, we describe the formation of `persister' cells which neither grow nor die in the presence of antibiotics. We propose that the cells are of a different phenotype than typical bacterial cells and the expression of the phenotype is regulated by the growth rate and the antibiotic concentration. We describe several experiments which describe the dynamics of persister cells and which motivate a dosing protocol that calls for periodic dosing of the population. We then introduce a mathematical model, which describes the effect of such a dosing regiment and indicates that the relative dose/withdrawal times are important in determining the effectiveness of such a treatment. A reduced model is introduced and the similar behavior is demonstrated analytically.

  14. Persistence of Women in Online Degree-Completion Programs

    Directory of Open Access Journals (Sweden)

    Terry Müller

    2008-06-01

    Full Text Available Although online courses at postsecondary institutions promise adults access, flexibility, and convenience, many barriers to online learning remain. This article presents findings from a qualitative case study, which explored the phenomenon of undergraduate and graduate women learners’ persistence in online degree-completion programs at a college in the Northeast of the United States. Research questions asked why women learners persisted or failed to persist, and how factors supporting or hindering persistence influenced learners. Interviews with a purposeful sample of 20 participants revealed the complexity of variables affecting learners’ persistence to graduation. Findings suggested that multiple responsibilities, insufficient interaction with faculty, technology, and coursework ranked highest as barriers to women’s persistence. Strong motivation to complete degrees, engagement in the learning community, and appreciation for the convenience of an online degree-completion option facilitated persistence.

  15. Swimming and Persons with Mild Persistant Asthma

    Directory of Open Access Journals (Sweden)

    Mirjana Arandelovic

    2007-01-01

    Full Text Available The aim of our study was to analyze the effect of recreational swimming on lung function and bronchial hyperresponsiveness (BHR in patients with mild persistent asthma. This study included 65 patients with mild persistent asthma, who were divided into two groups: experimental group A (n = 45 and control group B (n = 20. Patients from both groups were treated with low doses of inhaled corticosteroids (ICS and short-acting β2 agonists salbutamol as needed. Our program for patients in group A was combined asthma education with swimming (twice a week on a 1-h basis for the following 6 months. At the end of the study, in Group A, we found a statistically significant increase of lung function parameters FEV1 (forced expiratory volume in 1 sec (3.55 vs. 3.65 (p < 0.01, FVC (forced vital capacity (4.27 vs. 4.37 (p < 0.05, PEF (peak expiratory flow (7.08 vs. 7.46 (p < 0.01, and statistically significant decrease of BHR (PD20 0.58 vs. 2.01 (p < 0.001. In Group B, there was a statistically significant improvement of FEV1 3.29 vs. 3.33 (p < 0.05 and although FVC, FEV1/FVC, and PEF were improved, it was not significant. When Groups A and B were compared at the end of the study, there was a statistically significant difference of FVC (4.01 vs. 4.37, FEV1 (3.33 vs. 3.55, PEF (6.79 vs.7.46, and variability (p <0.001, and statistically significantly decreased BHR in Group A (2.01 vs. 1.75 (p < 0.001. Engagement of patients with mild persistent asthma in recreational swimming in nonchlorinated pools, combined with regular medical treatment and education, leads to better improvement of their parameters of lung function and also to more significant decrease of their airway hyperresponsiveness compared to patients treated with traditional medicine

  16. Persistent Identifiers, Discoverability and Open Science (Communication)

    Science.gov (United States)

    Murphy, Fiona; Lehnert, Kerstin; Hanson, Brooks

    2016-04-01

    Early in 2016, the American Geophysical Union announced it was incorporating ORCIDs into its submission workflows. This was accompanied by a strong statement supporting the use of other persistent identifiers - such as IGSNs, and the CrossRef open registry 'funding data'. This was partly in response to funders' desire to track and manage their outputs. However the more compelling argument, and the reason why the AGU has also signed up to the Center for Open Science's Transparency and Openness Promotion (TOP) Guidelines (http://cos.io/top), is that ultimately science and scientists will be the richer for these initiatives due to increased opportunities for interoperability, reproduceability and accreditation. The AGU has appealed to the wider community to engage with these initiatives, recognising that - unlike the introduction of Digital Object Identifiers (DOIs) for articles by CrossRef - full, enriched use of persistent identifiers throughout the scientific process requires buy-in from a range of scholarly communications stakeholders. At the same time, across the general research landscape, initiatives such as Project CRediT (contributor roles taxonomy), Publons (reviewer acknowledgements) and the forthcoming CrossRef DOI Event Tracker are contributing to our understanding and accreditation of contributions and impact. More specifically for earth science and scientists, the cross-functional Coalition for Publishing Data in the Earth and Space Sciences (COPDESS) was formed in October 2014 and is working to 'provide an organizational framework for Earth and space science publishers and data facilities to jointly implement and promote common policies and procedures for the publication and citation of data across Earth Science journals'. Clearly, the judicious integration of standards, registries and persistent identifiers such as ORCIDs and International Geo Sample Numbers (IGSNs) to the research and research output processes is key to the success of this venture

  17. Stability under persistent perturbation by white noise

    International Nuclear Information System (INIS)

    Kalyakin, L

    2014-01-01

    Deterministic dynamical system which has an asymptotical stable equilibrium is considered under persistent perturbation by white noise. It is well known that if the perturbation does not vanish in the equilibrium position then there is not Lyapunov's stability. The trajectories of the perturbed system diverge from the equilibrium to arbitrarily large distances with probability 1 in finite time. New concept of stability on a large time interval is discussed. The length of interval agrees the reciprocal quantity of the perturbation parameter. The measure of stability is the expectation of the square distance from the trajectory till the equilibrium position. The method of parabolic equation is applied to both estimate the expectation and prove such stability. The main breakthrough is the barrier function derived for the parabolic equation. The barrier is constructed by using the Lyapunov function of the unperturbed system

  18. Persistent Organic Pollutants and Type 2 Diabetes

    DEFF Research Database (Denmark)

    Wu, Hongyu; Bertrand, Kimberly A; Choi, Anna L

    2013-01-01

    and summarize existing evidence in a meta-analysis. METHODS: Plasma polychlorinated biphenyls (PCBs), dichlorodiphenyltrichloroethane (DDT), dichlorodiphenyldichloroethylene (DDE), and hexachlorobenzene (HCB) concentrations were measured in 1,095 women who were free of diabetes at blood draw in 1989......BACKGROUND: Prospective data regarding persistent organic pollutants (POPs) and risk of type 2 diabetes (T2D) are limited, and the results for individual POPs are not entirely consistent across studies. OBJECTIVES: To prospectively examine plasma POP concentrations in relation to incident T2D......-1990 and participated in two case-control studies in the Nurses' Health Study. We identified 48 incident T2D cases through June 30, 2008. We conducted a literature search in MEDLINE and EMBASE through December 2011 to identify prospective studies on POPs in relation to diabetes. We used a fixed-effects model...

  19. Cognitive implications of facilitating echoic persistence.

    Science.gov (United States)

    Baldwin, Carryl L

    2007-06-01

    Seventeen participants performed a tone-pattern-matching task at different presentation levels while concurrently engaged in a simulated-driving task. Presentation levels of 60, 65, and 70 dBC (SPL) were combined factorially with tone-matching delays of 2, 3, and 4 sec. Intensity had no effect on performance in single-task conditions and short-delay conditions. However, when the participants were engaged concurrently in the driving task, a significant interaction between presentation level and delay was observed. In the longest delay condition, the participants performed the tone-pattern-matching task more efficiently (more quickly and without additional errors) as presentation intensity increased. These findings demonstrate the interaction between sensory and cognitive processes and point to a direct-intensity relationship where intensity affects the persistence of echoic memory. Implications for facilitating auditory processing and improving auditory interfaces in complex systems (i.e., transportation environments), particularly for older and hearing-impaired listeners, are discussed.

  20. Persistent organic pollutants in the Muda area

    International Nuclear Information System (INIS)

    Zuriati Zakaria; Md Pauzi Abdullah; Laily Din

    2002-01-01

    A screening for the presence of Persistent Organic Pollutants (POP) in Malaysia was undertaken by the Universiti Kebangsaan Malaysia as part of the Department of Environment's assessment process to study the extent of bioaccumulation or the transboundary effect of POPs in the country. Water, sediment and fish samples were tested for the presence of nine compounds which were aldrin, dieldrin, chlordane, DDT, hexachlordane, hexachlorobenzene, mirex, toxaphene and heptachlor. The Muda area was one of the areas investigated where samplings were conducted at Sungai Tajar, Sungai Tala and Sungai Fadang. Analyses of the samples showed that residues of DDT, aldrin, dieldrin, endrin and BHC were present in the sediment.The water samples also showed the presence of aldrin and dieldrin. (Author)

  1. Remote Biometrics for Robust Persistent Authentication

    DEFF Research Database (Denmark)

    Ingwar, Mads Ingerslew; Jensen, Christian D.

    2014-01-01

    This paper examines the problem of providing a robust non-invasive authentication service for mobile users in a smart environment. We base our work on the persistent authentication model (PAISE), which relies on available sensors to track principals from the location where they authenticate, e.......g., through a smart card based access control system, to the location where the authentication is required by a location-based service. The PAISE model is extended with remote biometrics to prevent the decay of authentication confidence when authenticated users encounter and interact with other users...... in the environment. The result is a calm approach to authentication, where mobile users are transparently authenticated towards the system, which allows the provision of location-based services. The output of the remote biometrics are fused using error-rate-based fusion to solve a common problem that occurs in score...

  2. Persistence of malathion residues in stored wheat

    International Nuclear Information System (INIS)

    Farghaly, M.; Zayed, S.M.A.D.

    1990-01-01

    The persistence of succinate- 14 C-malathion in stored wheat was investigated under local conditions during a storage period of 32 weeks. The insecticide penetrated readily into the seed and up to 16% of the applied dose was found to be bound after 32 weeks in storage. Total terminal residues declined to 9.3 and 21.0 mg/kg from initially applied doses of 12.2 and 24.4 mg/kg respectively. A small percentage of malaoxon was detected only during the early weeks after treatment (3-5%). Malathion was the major constituent of the extractable residues. In addition, seven degradation products were detected and identified. (author). 6 refs, 2 figs, 2 tabs

  3. Persisting effect of community approaches to resuscitation

    DEFF Research Database (Denmark)

    Nielsen, Anne Møller; Isbye, Dan Lou; Lippert, Freddy Knudsen

    2014-01-01

    BACKGROUND: On the Danish island of Bornholm an intervention was carried out during 2008-2010 aiming at increasing out-of-hospital cardiac arrest (OHCA) survival. The intervention included mass media focus on resuscitation and widespread educational activities. The aim of this study was to compare....... There was no significant change in all-rhythm 30-day survival for non-EMS witnessed OHCAs with presumed cardiac aetiology (6.7% [95% CI 3-13] in the follow-up period; vs. 4.6% [95% CI 1-12], p=0.76). CONCLUSION: In a 3-year follow-up period after an intervention engaging laypersons in resuscitation through mass education...... in BLS combined with a media focus on resuscitation, we observed a persistent significant increase in the bystander BLS rate for all OHCAs with presumed cardiac aetiology. There was no significant difference in 30-day survival....

  4. Predictive risk factors for persistent postherniotomy pain

    DEFF Research Database (Denmark)

    Aasvang, Eske K; Gmaehle, Eliza; Hansen, Jeanette B

    2010-01-01

    BACKGROUND: Persistent postherniotomy pain (PPP) affects everyday activities in 5-10% of patients. Identification of predisposing factors may help to identify the risk groups and guide anesthetic or surgical procedures in reducing risk for PPP. METHODS: A prospective study was conducted in 464...... patients undergoing open or laparoscopic transabdominal preperitoneal elective groin hernia repair. Primary outcome was identification of risk factors for substantial pain-related functional impairment at 6 months postoperatively assessed by the validated Activity Assessment Scale (AAS). Data on potential...... risk factors for PPP were collected preoperatively (pain from the groin hernia, preoperative AAS score, pain from other body regions, and psychometric assessment). Pain scores were collected on days 7 and 30 postoperatively. Sensory functions including pain response to tonic heat stimulation were...

  5. Determinants of persistent asthma in young adults

    DEFF Research Database (Denmark)

    Traulsen, Lisbet Krogh; Halling, Anders; Bælum, Jesper

    2018-01-01

    Objective: The aim of the study was to evaluate determinants for the prognosis of asthma in a population-based cohort of young adults. Design: The study was a nine-year clinical follow up of 239 asthmatic subjects from an enriched population-based sample of 1,191 young adults, aged 20-44 years, who...... participated in an interviewer-administered questionnaire and clinical examination at baseline in 2003-2006. From the interview, an asthma score was generated as the simple sum of affirmative answers to five main asthma-like symptoms in order to analyse symptoms of asthma as a continuum. The clinical...... examination comprised spirometry, bronchial challenge or bronchodilation, and skin prick test. Results: Among the 239 individuals with asthma at baseline 164 (69%) had persistent asthma at follow up, while 68 (28%) achieved remission of asthma and seven (3%) were diagnosed with COPD solely. Determinants...

  6. China's water pollution by persistent organic pollutants

    International Nuclear Information System (INIS)

    Bao Lianjun; Maruya, Keith A.; Snyder, Shane A.; Zeng, Eddy Y.

    2012-01-01

    Available data were reviewed to assess the status of contamination by persistent organic pollutants (POPs), including organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs), polychlorinated dibenzo-p-dioxins and polychlorinated dibenzofurans (PCDD/Fs), perfluorooctane sulfonate (PFOS) and perfluorooctanoate (PFOA), in drinking water sources and coastal waters of China. The levels of POPs in China's waters were generally at the high end of the global range. A comparison of China's regulatory limits indicated that PCBs in rivers and coastal water may pose potential human health risk. Occurrence of DDTs in some rivers of China may also pose health risk to humans using the regulatory limits of DDTs recommended by the European Union. Future monitoring of POPs in China's waters should be directed towards analytes of concern (e.g. PCBs and PCDD/Fs) and to fill data gaps for analytes (e.g. PBDEs, PCDD/Fs, and chlordane) and in watersheds/regions (e.g. West China) where data are scarce. - Highlights: ► Levels of POPs in China's aquatic systems were generally at the high end of the global range. ► New inputs of DDTs, likely related to the use of dicofol and anti-fouling paints, were found. ► Occurrence of PCBs and DDTs in some water bodies pay pose potential human health risk. ► Long-term monitoring of POPs in China's waters is needed to fill data gaps. - Occurrence, potential sources and ecological and human health risk of persistent organic pollutants in China's waters are reviewed.

  7. Inflation persistence in African countries: Does inflation targeting matter?

    OpenAIRE

    Phiri, Andrew

    2016-01-01

    This study investigates inflation persistence in annual CPI inflation collected between 1994 and 2014 for 46 African countries. We group these countries into panels according to whether they are inflation targeters or not and conduct estimations for pre and post inflation targeting periods. Interestingly enough, we find that inflation persistence was much higher for inflation targeters in periods before adopting their inflation targeting regimes and inflation persistence dropped by 40 percent...

  8. The modality effect and echoic persistence.

    Science.gov (United States)

    Watkins, O C; Watkins, M J

    1980-09-01

    a 20-sec silent copying task interpolated before free recall reduced visual recency more than auditory recency, and so enhanced the modality effect. This suggests that, contrary to prevailing opinion, the modality effect in delayed recall is not the result of a memory that is modality-independent. In Experiment 6 a modality effect found with serial recall after an unfilled interval of 18 sec was unaffected by visual distractor task, but almost eliminated by an auditory distractor task, given just prior to recall. It thus seems that the modality effect in delayed recall is the result of information persisting in echoic form until recall. It is concluded that echoic information can persist for many seconds and is used directly at the time of recall.

  9. Degassing Processes at Persistently Active Explosive Volcanoes

    Science.gov (United States)

    Smekens, Jean-Francois

    Among volcanic gases, sulfur dioxide (SO2) is by far the most commonly measured. More than a monitoring proxy for volcanic degassing, SO 2 has the potential to alter climate patterns. Persistently active explosive volcanoes are characterized by short explosive bursts, which often occur at periodic intervals numerous times per day, spanning years to decades. SO 2 emissions at those volcanoes are poorly constrained, in large part because the current satellite monitoring techniques are unable to detect or quantify plumes of low concentration in the troposphere. Eruption plumes also often show high concentrations of ash and/or aerosols, which further inhibit the detection methods. In this work I focus on quantifying volcanic gas emissions at persistently active explosive volcanoes and their variations over short timescales (minutes to hours), in order to document their contribution to natural SO2 flux as well as investigate the physical processes that control their behavior. In order to make these measurements, I first develop and assemble a UV ground-based instrument, and validate it against an independently measured source of SO2 at a coal-burning power plant in Arizona. I establish a measurement protocol and demonstrate that the instrument measures SO 2 fluxes with Indonesia), a volcano that has been producing cycles of repeated explosions with periods of minutes to hours for the past several decades. Semeru produces an average of 21-71 tons of SO2 per day, amounting to a yearly output of 8-26 Mt. Using the Semeru data, along with a 1-D transient numerical model of magma ascent, I test the validity of a model in which a viscous plug at the top of the conduit produces cycles of eruption and gas release. I find that it can be a valid hypothesis to explain the observed patterns of degassing at Semeru. Periodic behavior in such a system occurs for a very narrow range of conditions, for which the mass balance between magma flux and open-system gas escape repeatedly

  10. HIV Persistence in Adipose Tissue Reservoirs.

    Science.gov (United States)

    Couturier, Jacob; Lewis, Dorothy E

    2018-02-01

    The purpose of this review is to examine the evidence describing adipose tissue as a reservoir for HIV-1 and how this often expansive anatomic compartment contributes to HIV persistence. Memory CD4 T cells and macrophages, the major host cells for HIV, accumulate in adipose tissue during HIV/SIV infection of humans and rhesus macaques. Whereas HIV and SIV proviral DNA is detectable in CD4 T cells of multiple fat depots in virtually all infected humans and monkeys examined, viral RNA is less frequently detected, and infected macrophages may be less prevalent in adipose tissue. However, based on viral outgrowth assays, adipose-resident CD4 T cells are latently infected with virus that is replication-competent and infectious. Additionally, adipocytes interact with CD4 T cells and macrophages to promote immune cell activation and inflammation which may be supportive for HIV persistence. Antiviral effector cells, such as CD8 T cells and NK/NKT cells, are abundant in adipose tissue during HIV/SIV infection and typically exceed CD4 T cells, whereas B cells are largely absent from adipose tissue of humans and monkeys. Additionally, CD8 T cells in adipose tissue of HIV patients are activated and have a late differentiated phenotype, with unique TCR clonotypes of less diversity relative to blood CD8 T cells. With respect to the distribution of antiretroviral drugs in adipose tissue, data is limited, but there may be class-specific penetration of fat depots. The trafficking of infected immune cells within adipose tissues is a common event during HIV/SIV infection of humans and monkeys, but the virus may be mostly transcriptionally dormant. Viral replication may occur less in adipose tissue compared to other major reservoirs, such as lymphoid tissue, but replication competence and infectiousness of adipose latent virus are comparable to other tissues. Due to the ubiquitous nature of adipose tissue, inflammatory interactions among adipocytes and CD4 T cells and macrophages, and

  11. Quantification of image persistence in a digital angiography system

    International Nuclear Information System (INIS)

    Okkalides, D.P.; Raptou, P.D.

    1993-01-01

    Image persistence, as a characteristic of video imaging systems affecting the quality of fast moving fluoroscopic images, is shown to vary considerably. A simple quantitative method for measuring image persistence in a digital angiography system is presented, together with a series of image intensifier exposure-response curves. For the Saticon tube, used with the Siemens 3VA Digitron, it was found that persistence increased for low exposure rates and may increase to 31% at a 120 ms interval. In addition, a sharp increase in image persistence, from 8.3% to 33%, was observed within 18 months from installation of the system. (author)

  12. SCORPION II persistent surveillance system update

    Science.gov (United States)

    Coster, Michael; Chambers, Jon

    2010-04-01

    This paper updates the improvements and benefits demonstrated in the next generation Northrop Grumman SCORPION II family of persistent surveillance and target recognition systems produced by the Xetron Campus in Cincinnati, Ohio. SCORPION II reduces the size, weight, and cost of all SCORPION components in a flexible, field programmable system that is easier to conceal and enables integration of over fifty different Unattended Ground Sensor (UGS) and camera types from a variety of manufacturers, with a modular approach to supporting multiple Line of Sight (LOS) and Beyond Line of Sight (BLOS) communications interfaces. Since 1998 Northrop Grumman has been integrating best in class sensors with its proven universal modular Gateway to provide encrypted data exfiltration to Common Operational Picture (COP) systems and remote sensor command and control. In addition to feeding COP systems, SCORPION and SCORPION II data can be directly processed using a common sensor status graphical user interface (GUI) that allows for viewing and analysis of images and sensor data from up to seven hundred SCORPION system gateways on single or multiple displays. This GUI enables a large amount of sensor data and imagery to be used for actionable intelligence as well as remote sensor command and control by a minimum number of analysts.

  13. Persistent Scatterer Interferometry using Sentinel-1 Data

    Science.gov (United States)

    Monserrat, Oriol; Crosetto, Michele; Devanthery, Nuria; Cuevas-Gonzalez, Maria; Qihuan, Huang; Barra, Anna; Crippa, Bruno

    2016-04-01

    This work will be focused on the deformation measurement and monitoring using SAR imagery from the C-band Sentinel-1, a space mission funded by the European Union and carried out by the European Space Agency (ESA) within the Copernicus Programme. The work will firstly address the data processing and analysis procedure implemented by the authors. This includes both Persistent Scatterer Interferometry (PSI) tools to analyse large stacks of SAR images (say, typically more than 20 images), and Differential SAR Interferometry (DInSAR) tools to analyse short SAR image stacks. The work will discuss the characteristics of the main products derived by using Sentinel-1 DInSAR and PSI: deformation maps, deformation velocity maps, deformation time series, residual topographic error, etc. The analysis will be carried out over different types of land use area, e.g. urban, peri-urban and rural areas. The deformation monitoring based on Sentinel-1 data will be compared with the monitoring based on data from pre-existing missions, e.g. C-band ERS and Envisat, X-band TerraSAR-X and CosmoSkyMed, etc. The comparison will concern different study areas, mainly located in Italy and Spain.

  14. Persistence of Antarctic polar stratospheric clouds

    Science.gov (United States)

    Mccormick, M. Patrick; Trepte, C. R.

    1988-01-01

    The persistence of Polar Stratospheric Clouds (PSCs) observed by the Stratospheric Aerosol Measurement (SAM) 2 satellite sensor over a 9-year period is compared and contrasted. Histograms of the SAM 2 1.0 micron extinction ratio data (aerosol extinction normalized by the molecular extinction) at an altitude of 18 km in the Antarctic have been generated for three 10-day periods in the month of September. Statistics for eight different years (1979 to 1982 and 1984 to 1987) are shown in separate panels for each figure. Since the SAM 2 system is a solar occultation experiment, observations are limited to the edge of the polar night and no measurements are made deep within the vortex where temperatures could be colder. For this reason, use is made of the NMC global gridded fields and the known temperature-extinction relationship to infer additional information on the occurrence and areal coverage of PSCs. Calculations of the daily areal coverage of the 195 K isotherm will be presented for this same period of data. This contour level lies in the range of the predicted temperature for onset of the Type 1 particle enhancement mode at 50 mb (Poole and McCormick, 1988b) and should indicate approximately when formation of the binary HNO3-H2O particles begins.

  15. Making web annotations persistent over time

    Energy Technology Data Exchange (ETDEWEB)

    Sanderson, Robert [Los Alamos National Laboratory; Van De Sompel, Herbert [Los Alamos National Laboratory

    2010-01-01

    As Digital Libraries (DL) become more aligned with the web architecture, their functional components need to be fundamentally rethought in terms of URIs and HTTP. Annotation, a core scholarly activity enabled by many DL solutions, exhibits a clearly unacceptable characteristic when existing models are applied to the web: due to the representations of web resources changing over time, an annotation made about a web resource today may no longer be relevant to the representation that is served from that same resource tomorrow. We assume the existence of archived versions of resources, and combine the temporal features of the emerging Open Annotation data model with the capability offered by the Memento framework that allows seamless navigation from the URI of a resource to archived versions of that resource, and arrive at a solution that provides guarantees regarding the persistence of web annotations over time. More specifically, we provide theoretical solutions and proof-of-concept experimental evaluations for two problems: reconstructing an existing annotation so that the correct archived version is displayed for all resources involved in the annotation, and retrieving all annotations that involve a given archived version of a web resource.

  16. Problems persist for French refining sector

    International Nuclear Information System (INIS)

    Beck, R.J.

    1992-01-01

    This paper reports that France's refiners face a continuing shortfall of middle distillate capacity and a persistent surplus of heavy fuel oil. That's the main conclusion of the official Hydrocarbon Directorate's report on how France's refining sector performed in 1991. Imports up---The directorate noted that although net production of refined products in French refineries rose to 1.534 million b/d in 1991 from 1.48 million b/d in 1990, products imports jumped 9.7% to 602,000 b/d in the period. The glut of heavy fuel oil eased to some extent last year because French nuclear power capacity, heavily dependent on ample water supplies, was crimped by drought. That spawned fuel switching. The most note worthy increase in imports was for motor diesel, climbing to 176,000 b/d from 148,000 b/d in 1990. Tax credits are spurring French consumption of that fuel. For the first time, consumption of motor diesel in 1991 outstripped that of gasoline at 374,000 b/d and 356,000 b/d respectively

  17. China's water pollution by persistent organic pollutants.

    Science.gov (United States)

    Bao, Lian-Jun; Maruya, Keith A; Snyder, Shane A; Zeng, Eddy Y

    2012-04-01

    Available data were reviewed to assess the status of contamination by persistent organic pollutants (POPs), including organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs), polychlorinated dibenzo-p-dioxins and polychlorinated dibenzofurans (PCDD/Fs), perfluorooctane sulfonate (PFOS) and perfluorooctanoate (PFOA), in drinking water sources and coastal waters of China. The levels of POPs in China's waters were generally at the high end of the global range. A comparison of China's regulatory limits indicated that PCBs in rivers and coastal water may pose potential human health risk. Occurrence of DDTs in some rivers of China may also pose health risk to humans using the regulatory limits of DDTs recommended by the European Union. Future monitoring of POPs in China's waters should be directed towards analytes of concern (e.g. PCBs and PCDD/Fs) and to fill data gaps for analytes (e.g. PBDEs, PCDD/Fs, and chlordane) and in watersheds/regions (e.g. West China) where data are scarce. Copyright © 2011 Elsevier Ltd. All rights reserved.

  18. Persistent consequences of atypical early number concepts

    Directory of Open Access Journals (Sweden)

    Michèle M. M. Mazzocco

    2013-09-01

    Full Text Available How does symbolic number knowledge performance help identify young children at risk for poor mathematics achievement outcomes? In research and practice, classification of mathematics learning disability (MLD, or dyscalculia is typically based on composite scores from broad measures of mathematics achievement. These scores do predict later math achievement levels, but do not specify the nature of math difficulties likely to emerge among students at greatest risk for long-term mathematics failure. Here we report that gaps in 2nd and 3rd graders’ number knowledge predict specific types of errors made on math assessments at Grade 8. Specifically, we show that early whole number misconceptions predict slower and less accurate performance, and atypical computational errors, on Grade 8 arithmetic tests. We demonstrate that basic number misconceptions can be detected by idiosyncratic responses to number knowledge items, and that when such misconceptions are evident during primary school they persist throughout the school age years, with variable manifestation throughout development. We conclude that including specific qualitative assessments of symbolic number knowledge in primary school may provide greater specificity of the types of difficulties likely to emerge among students at risk for poor mathematics outcomes.

  19. Persistence of social signatures in human communication.

    Science.gov (United States)

    Saramäki, Jari; Leicht, E A; López, Eduardo; Roberts, Sam G B; Reed-Tsochas, Felix; Dunbar, Robin I M

    2014-01-21

    The social network maintained by a focal individual, or ego, is intrinsically dynamic and typically exhibits some turnover in membership over time as personal circumstances change. However, the consequences of such changes on the distribution of an ego's network ties are not well understood. Here we use a unique 18-mo dataset that combines mobile phone calls and survey data to track changes in the ego networks and communication patterns of students making the transition from school to university or work. Our analysis reveals that individuals display a distinctive and robust social signature, captured by how interactions are distributed across different alters. Notably, for a given ego, these social signatures tend to persist over time, despite considerable turnover in the identity of alters in the ego network. Thus, as new network members are added, some old network members either are replaced or receive fewer calls, preserving the overall distribution of calls across network members. This is likely to reflect the consequences of finite resources such as the time available for communication, the cognitive and emotional effort required to sustain close relationships, and the ability to make emotional investments.

  20. [Persistence of social representation regarding breast cancer].

    Science.gov (United States)

    Giraldo-Mora, Clara V

    2009-08-01

    Understanding the social representation of breast cancer and how it has influenced breast cancer prevention and self-care practice in a group of women from the city of Medellin. This was a qualitative study using 19 semi-structured interviews with adult females who had not had breast cancer, using maximum variation criterion as sampling technique. The analysis was orientated by grounded theory. Some women physiologically represented breast cancer while others represented it by its social and psychological effects. They identified its causes with personal and emotional problems and certain daily habits such as inadequate food ("a bodily payback for the abuses which we subject ourselves to"). The word "breast cancer" was associated with inevitable death, terror, suffering, incurability, devastation, powerlessness and pain. This cancer has strong social representation due to its severe implications for females, their attractiveness and self-image. The persistence of breast cancer's negative image is associated with "the life-style myth" (1) for which people tend to blame the patient. Our biological reductionism hides environmental, social and political factors. We are obsessed by the dangers and their control (2) and powerful images are added to these messages such as those in which "one out of nine women will develop breast cancer" to foster self-responsibility (2). However, the ghost of cancer in developing societies in which many people are still trapped is magnified and has also yet to be overcome.

  1. Persistence of Orientia tsutsugamushi in humans.

    Science.gov (United States)

    Chung, Moon-Hyun; Lee, Jin-Soo; Baek, Ji-hyeon; Kim, Mijeong; Kang, Jae-Seung

    2012-03-01

    We investigated the persistence of viable Orientia tsutsugamushi in patients who had recovered from scrub typhus. Blood specimens were available from six patients with scrub typhus who were at 1 to 18 months after the onset of the illness. The EDTA-treated blood specimens were inoculated into ECV304 cells, and cultures were maintained for 7 months. Sequencing of the 56-kDa type-specific antigen gene of O. tsutsugamushi was performed to ascertain the homology of isolates. O. tsutsugamushi was isolated from all six patients, and nucleotide sequences of isolates serially collected from each patient were identical in all five patients in whom nucleotide sequences were compared. One patient relapsed 2 days after completion of antibiotic therapy; two patients complained of weakness for 1 to 2.5 months after the illness; one patient underwent coronary angioplasty 6 months later; and one patient suffered from a transient ischemic attack 8 months later. This finding suggests that O. tsutsugamushi causes chronic latent infection, which may be associated with certain clinical illnesses, preceded by scrub typhus. Antibiotic therapy abates the symptoms of scrub typhus, but does not eradicate O. tsutsugamushi from the human body.

  2. Persistent Autobiographical Amnesia: A Case Report

    Directory of Open Access Journals (Sweden)

    C. Repetto

    2007-01-01

    Full Text Available We describe a 47-year-old man who referred to the Emergency Department for sudden global amnesia and left mild motor impairment in the setting of increased arterial blood pressure. The acute episode resolved within 24 hours. Despite general recovery and the apparent transitory nature of the event, a persistent selective impairment in recollecting events from some specific topics of his personal life became apparent. Complete neuropsychological tests one week after the acute onset and 2 months later demonstrated a clear retrograde memory deficit contrasting with the preservation of anterograde memory and learning abilities. One year later, the autobiographic memory deficit was unmodified, except for what had been re-learnt. Brain MRI was normal while H20 brain PET scans demonstrated hypometabolism in the right globus pallidus and putamen after 2 weeks from onset, which was no longer present one year later. The absence of a clear pathomechanism underlying focal amnesia lead us to consider this case as an example of functional retrograde amnesia.

  3. Persistent topological features of dynamical systems

    Energy Technology Data Exchange (ETDEWEB)

    Maletić, Slobodan, E-mail: slobodan@hitsz.edu.cn [Shenzhen Graduate School, Harbin Institute of Technology, Shenzhen (China); Institute of Nuclear Sciences Vinča, University of Belgrade, Belgrade (Serbia); Zhao, Yi, E-mail: zhao.yi@hitsz.edu.cn [Shenzhen Graduate School, Harbin Institute of Technology, Shenzhen (China); Rajković, Milan, E-mail: milanr@vinca.rs [Institute of Nuclear Sciences Vinča, University of Belgrade, Belgrade (Serbia)

    2016-05-15

    Inspired by an early work of Muldoon et al., Physica D 65, 1–16 (1993), we present a general method for constructing simplicial complex from observed time series of dynamical systems based on the delay coordinate reconstruction procedure. The obtained simplicial complex preserves all pertinent topological features of the reconstructed phase space, and it may be analyzed from topological, combinatorial, and algebraic aspects. In focus of this study is the computation of homology of the invariant set of some well known dynamical systems that display chaotic behavior. Persistent homology of simplicial complex and its relationship with the embedding dimensions are examined by studying the lifetime of topological features and topological noise. The consistency of topological properties for different dynamic regimes and embedding dimensions is examined. The obtained results shed new light on the topological properties of the reconstructed phase space and open up new possibilities for application of advanced topological methods. The method presented here may be used as a generic method for constructing simplicial complex from a scalar time series that has a number of advantages compared to the mapping of the same time series to a complex network.

  4. Persistence in the WFC3 IR Detector: Intrinsic Variability

    Science.gov (United States)

    Long, Knox S.; Baggett, Sylvia M.

    2018-03-01

    When the WFC3 IR detector is exposed to a bright source or sources, the sources can appear as afterimages in subsequent exposures, a phenomenon known as persistence. This can affect the science obtained with the IR channel. We have been involved in an effort to predict the brightness of the afterimages so that users can (at a minimum) flag the affected pixels and remove them from their analysis or (even better) subtract the afterimages from their science images to salvage the data. The ability of any model to remove afterimages depends on the degree to which persistence is the same for identical sets of exposures. We investigate possible time variability of persistence in the WFC3 detector using sets of (almost) identical visits comprised of single exposures of Omega Cen followed by a series of darks in which persistence is measured. We analyze 8 data sets, each consisting of two or three identical visits, with stimulus exposures between 49 and 1199 s, and find clear evidence of variability in several of the datasets in darks taken within 1000 s of the stimulus exposure. In most of the datasets, the difference in persistence for saturated pixels in the stimulus exposure is a power law decay; the visit with higher persistence has a higher power law amplitude. There was nothing unusual about the observing conditions preceding and during each of these visits that can explain the discrepancy in persistence levels. Variation in persistence implies that: (1) Unless and until the source of the variability is understood, any persistence model for the WFC3 array will be limited in its ability to predict persistence in a single observation, and, (2) as a consequence, users should always carefully inspect the results of any attempt to subtract persistence from WFC3 IR data based on a model prediction.

  5. The persistence to slaughter age of scars resulting from damage ...

    African Journals Online (AJOL)

    Cut wounds were persistent to slaughter as were scratch marks, with only a small percentage of scratch wounds incurred at a young age not persisting to slaughter age. Mean scar size at slaughter became smaller with an increase in age at which the wounds were inflicted, except at 13 months of age where it was assumed ...

  6. Persistent Mullerian Duct Syndrome (PMDS With Large Intraabdominal Seminoma

    Directory of Open Access Journals (Sweden)

    Della Harigovind

    2017-07-01

    Full Text Available Persistent Mullerian Duct Syndrome, a form of male pseudohermaphroditism is characterized by the presence of the Mullerian duct derivatives in an otherwise phenotypically as well as genotypically normal male. We report a case of large intra abdominal seminoma in a male patient with cryptorchidism, along with persistence of Mullerian duct derivatives (uterus.

  7. Persistent Breech Presentation in a Bicornuate Uterus: A Case Report

    African Journals Online (AJOL)

    We report a case of persistent breech presentation in a primigravida with bicornuate uterus that was initially diagnosed by early ultrasound scan. Persistent breech presentation later in the pregnancy necessitated an elective caesarean section at term. The diagnosis was confirmed intraoperatively by exteriorizing the uterus.

  8. Persistent fluctuations in stride intervals under fractal auditory stimulation

    NARCIS (Netherlands)

    Marmelat, V.C.M.; Torre, K.; Beek, P.J.; Daffertshofer, A.

    2014-01-01

    Stride sequences of healthy gait are characterized by persistent long-range correlations, which become anti-persistent in the presence of an isochronous metronome. The latter phenomenon is of particular interest because auditory cueing is generally considered to reduce stride variability and may

  9. Persistence of, and interrelation between, horizontal and vertical technology alliances

    NARCIS (Netherlands)

    Belderbos, R.; Gilsing, V.A.; Lokshin, B.

    2012-01-01

    The authors explore to what extent there is persistence in, and interrelation between, alliance strategies with different partner types (customers, suppliers, competitors). In a panel data set of innovation-active firms in the Netherlands from 1996 to 2004, the authors find persistence in alliance

  10. Persistent puhnonary hypertension ofthe neonate in a developing ...

    African Journals Online (AJOL)

    'PFC syndrome (persistence ofthe feral circulation). Circulation 1969; 40: Ill. 2. Fox WW, Duara S. Persistent pulmonary hypertension in the neonate: diagnosis and management. J Pediatr 1983; 103: 505-. 508. 3. Dworetz AR, Moya FR, Sabo B, Gladstone I, Gross 1. Survival of infants with persisteot pulmonary hypertension ...

  11. Why They Stay: Women Persisting in US Engineering Careers

    Science.gov (United States)

    Buse, Kathleen; Bilimoria, Diana; Perelli, Sheri

    2013-01-01

    Purpose: Women remain dramatically underrepresented in the engineering profession and far fewer women than men persist in the field. This study aims to identify individual and contextual factors that distinguish women who persist in engineering careers in the US. Design/methodology/approach: Qualitative research was conducted based on…

  12. Persistence and vulnerability: retaining biodiversity in the landscape ...

    Indian Academy of Sciences (India)

    Unknown

    An objective of biodiversity conservation activities is to minimize the exposure of biodiversity features to threatening processes and to ensure, as far as possible, that biodiversity persists in the landscape. We discuss how issues of vulnerability and persistence can and should be addressed at all stages of the conservation.

  13. No Exit: Predicting Student Persistence. AIR 1990 Annual Forum Paper.

    Science.gov (United States)

    Beil, Cheryl; Shope, Janet H.

    A longitudinal study was conducted to determine the factors influencing college student persistence in remaining in school. Persistence was examined at two points: after the first year and 4 years after enrollment. The study was conducted at an urban university using the American College Testing's Entering Student Survey and Student Opinion…

  14. Low Socioeconomic Status Men Persisting in College: A Phenomenological Study

    Science.gov (United States)

    Crichton, Dusten D.

    2017-01-01

    The purpose of this phenomenological study was to explore and to tell the stories of low socioeconomic status (SES) men in college who persisted beyond the halfway point of college at a Midwestern metropolitan university. Prior research suggested men from low socioeconomic status backgrounds matriculated and persisted in college at the lowest…

  15. Sequencing of Escherichia coli that cause persistent and transient Mastitis

    Science.gov (United States)

    The genomes of two strains of Escherichia coli that cause bovine mastitis were sequenced. These strains are known to be associated with persistent and transient mastitis: strain ECA-B causes a transient infection, and ECC-M leads to a persistent infection....

  16. Prevalence of Persistent Proteinuria using Urine Protein/Creatinine ...

    African Journals Online (AJOL)

    Age and social class did not contribute significantly to having persistent proteinuria. Conclusion: The prevalence of persistent proteinuria in these asymptomatic children using UPC ratio was almost similar to the repeat urinalysis done after two weeks. It is hereby recommended that where UPC ratio is not available a positive ...

  17. Persistent pain and sensory disturbances after treatment for breast cancer

    DEFF Research Database (Denmark)

    Mejdahl, Mathias Kvist; Andersen, Kenneth Geving; Gärtner, Rune

    2013-01-01

    To examine the development of persistent pain after treatment for breast cancer and to examine risk factors associated with continuing pain.......To examine the development of persistent pain after treatment for breast cancer and to examine risk factors associated with continuing pain....

  18. Spatial patterns of drought persistence in East China

    Science.gov (United States)

    Meng, L.; Ford, T.

    2017-12-01

    East China has experienced a number of severe droughts in recent decades. Understanding the characteristics of droughts and their persistence will provide operational guidelines for water resource management and agricultural production. This study uses a logistic regression model to measure the probability of drought occurrence in the current season given the previous season's Standardized Precipitation Index (SPI) and Southern Oscillation Index (SOI) as well as drought persistence. Results reveal large spatial and seasonal variations in the relationship between the previous season's SPI and the drought occurrence probability in a given season. The drought persistence averaged over the entire study area for all the four seasons is approximately 34% with large variations from season to season and from region to region. The East and Northeast regions have the largest summer drought persistence ( 40%) and lowest fall drought persistence ( 28%). The spatial pattern in winter and spring drought persistence is dissimilar with stronger winter and weaker spring drought persistence in the Southwest and Northeast relative to other regions. Logistic regression analysis indicates a stronger negative relationship in summer-to-fall (or between fall drought occurrence and summer SPI) than other inter-season relationships. This study demonstrates that the impact of previous season SPI and SOI on current season drought varies substantially from region to region and from season to season. This study also shows stronger drought persistence in summer than in other seasons. In other words, the probability of fall drought occurrence is closely related to summer moisture conditions in the East China.

  19. Supporting Academic Persistence in Low-Skilled Adult Learners

    Science.gov (United States)

    O'Neill, Susan; Thomson, Margareta Maria

    2013-01-01

    The current literature review explores the factors that contribute to academic persistence for adult learners. The aim of the study is to identify current research-based strategies aimed at supporting learner persistence, particularly for low-skilled adults. Elements of three theoretical frameworks, namely, expectancy-value theory (EVT), goal…

  20. Changes in persistence, spurious regressions and the Fisher hypothesis

    DEFF Research Database (Denmark)

    Kruse, Robinson; Ventosa-Santaulària, Daniel; Noriega, Antonio E.

    Declining inflation persistence has been documented in numerous studies. When such series are analyzed in a regression framework in conjunction with other persistent time series, spurious regressions are likely to occur. We propose to use the coefficient of determination R2 as a test statistic to...

  1. Low-Grade Persistent Hyperparathyroidism After Pediatric Renal Transplant.

    Science.gov (United States)

    Gulleroglu, Kaan; Baskin, Esra; Moray, Gokhan; Haberal, Mehmet

    2016-06-01

    Hyperparathyroidism, a frequent complication of chronic kidney disease, persists after renal transplant. Our aims were to examine the status of parathyroid hormone levels and to determine the clinical and biochemical risk factors of persistent hyperparathyroidism after transplant. Our study included 44 pediatric renal transplant recipients with stable graft function. Median follow-up after transplant was 17.5 months (range, 12-126 mo). Patients did not receive routine vitamin D or calcium supplements after transplant, and none had undergone previous parathyroidectomy. Bone mineral densitometry of the lumbar spine was measured. Fifteen patients (34%) had parathyroid hormone levels greater than 70 pg/mL (normal range, 10-70 pg/mL). Duration of dialysis before transplant was longer in patients with persistent hyperparathyroidism. Mean serum bicarbonate levels were significantly lower in patients with persistent hyperparathyroidism than in patients without persistent hyperparathyroidism after transplant. A significant negative correlation was noted between parathyroid hormone level and serum bicarbonate level. Another significant negative correlation was shown between parathyroid hormone level and z score. We found that persistent hyperparathyroidism is related to longer dialysis duration, lower serum bicarbonate level, and lower z score. Pretransplant dialysis duration is an important predictor of persistent hyperparathyroidism. Early identification of factors that contribute to persistent hyperparathyroidism after transplant could lead to treatment strategies to minimize or prevent its detrimental effects on bone health and growth in pediatric transplant recipients.

  2. Persistent infection caused by Hobi-like pestivirus.

    Science.gov (United States)

    Decaro, Nicola; Losurdo, Michele; Lucente, Maria Stella; Sciarretta, Rossana; Mari, Viviana; Larocca, Vittorio; Elia, Gabriella; Cavaliere, Nicola; Martella, Vito; Fasanella, Antonio; Buonavoglia, Canio

    2013-04-01

    A calf persistently infected by Hobi-like pestivirus was monitored for about 6 months, displaying clinical signs typical of bovine viral diarrhea virus persistent infection and shedding the virus through all body secretions, with maximal titers detected in urine. This report provides new insights into the pathogenesis of the emerging pestivirus.

  3. Increased serum concentrations of persistent organic pollutants among prediabetic individuals

    DEFF Research Database (Denmark)

    Færch, Kristine Villum; Højlund, Kurt; Vind, Birgitte Falbe

    2012-01-01

    There is a need for a better understanding of the potential role of persistent organic pollutants (POPs) in the pathogenesis of type 2 diabetes.......There is a need for a better understanding of the potential role of persistent organic pollutants (POPs) in the pathogenesis of type 2 diabetes....

  4. Enantioselective Biotransformation of Chiral Persistent Organic Pollutants.

    Science.gov (United States)

    Zhang, Ying; Ye, Jing; Liu, Min

    2017-01-01

    Enantiomers of chiral compounds commonly undergo enantioselective transformation in most biologically mediated processes. As chiral persistent organic pollutants (POPs) are extensively distributed in the environment, differences between enantiomers in biotransformation should be carefully considered to obtain exact enrichment and specific health risks. This review provides an overview of in vivo biotransformation of chiral POPs currently indicated in the Stockholm Convention and their chiral metabolites. Peer-reviewed journal articles focused on the research question were thoroughly searched. A set of inclusion and exclusion criteria were developed to identify relevant studies. We mainly compared the results from different animal models under controlled laboratory conditions to show the difference between enantiomers in terms of distinct transformation potential. Interactions with enzymes involved in enantioselective biotransformation, especially cytochrome P450 (CYP), were discussed. Further research areas regarding this issue were proposed. Limited evidence for a few POPs has been found in 30 studies. Enantioselective biotransformation of α-hexachlorocyclohexane (α-HCH), chlordane, dichlorodiphenyltrichloroethane (DDT), heptachlor, hexabromocyclododecane (HBCD), polychlorinated biphenyls (PCBs), and toxaphene, has been investigated using laboratory mammal, fish, bird, and worm models. Tissue and excreta distributions, as well as bioaccumulation and elimination kinetics after administration of racemate and pure enantiomers, have been analyzed in these studies. Changes in enantiomeric fractions have been considered as an indicator of enantioselective biotransformation of chiral POPs in most studies. Results of different laboratory animal models revealed that chiral POP biotransformation is seriously affected by chirality. Pronounced results of species-, tissue-, gender-, and individual-dependent differences are observed in in vivo biotransformation of chiral POPs

  5. East European energy. Romania's energy needs persist

    International Nuclear Information System (INIS)

    Smith, Elliott C.; Denman, Sara B.; Kutnick, Bruce; Schultz, John R.; Foley Hinnen, Patricia; Bylsma, Peter J.

    1992-08-01

    Romania's economic growth and development have been hampered by declining domestic energy production and disrupted fuel imports, creating an energy shortage. Consequently, homes and businesses lack sufficient light and heat, and industrial output has fallen. In order to ensure sufficient energy supplies in the future, Romania is taking steps to decentralize its state-owned energy industries, modernize its outdated facilities and equipment, diversify its fuel sources, and eliminate its inefficient production practices. To accomplish these objectives, Romania needs substantial foreign trade and investment, according to Romanian officials. However, despite government efforts to reform the energy sector and improve the business climate, impediments to U.S. trade with and investment in Romania persist. These barriers include lack of a comprehensive energy strategy, underdeveloped legal and business infrastructures, uncertain economic and political conditions, and the absence of U.S. most-favored-nation trade status. Recent efforts by the Romanian and U.S. governments to overcome the barriers to most-favored-nation status have led to progress in this area. U.S. government and international agencies have initiated a variety of efforts to assist Romania's energy sector. For example, the Agency for International Development (AID) funded an Emergency Energy Program; the U.S. Trade and Development Program is evaluating requests to fund several feasibility studies in the power generation sector; and the Department of Commerce offers energy-related information exchanges and trade missions to Romania. International organizations such as the World Bank and the European Investment Bank have also granted loans for energy sector development projects in Romania

  6. Persistent organic pollutants and male reproductive health

    Directory of Open Access Journals (Sweden)

    Anne Vested

    2014-02-01

    Full Text Available Environmental contaminants such as persistent organic pollutants (POPs are man-made bioaccumulative compounds with long half-lives that are found throughout the world as a result of heavy use in a variety of consumer products during the twentieth century. Wildlife and animal studies have long suggested adverse effects of exposure to these compounds on human reproductive health, which, according to the endocrine disrupter hypothesis, are ascribed to the compounds' potential to interfere with endocrine signaling, especially when exposure occurs during certain phases of fetal and childhood development. An extensive number of epidemiological studies have addressed the possible effects of exposure to POPs on male reproductive health, but the results are conflicting. Thus far, most studies have focused on investigating exposure and the different reproductive health outcomes during adulthood. Some studies have addressed the potential harmful effects of fetal exposure with respect to malformations at birth and/or reproductive development, whereas only a few studies have been able to evaluate whether intrauterine exposure to POPs has long-term consequences for male reproductive health with measurable effects on semen quality markers and reproductive hormone levels in adulthood. Humans are not exposed to a single compound at a time, but rather, to a variety of different substances with potential divergent hormonal effects. Hence, how to best analyze epidemiological data on combined exposures remains a significant challenge. This review on POPs will focus on current knowledge regarding the potential effects of exposure to POPs during fetal and childhood life and during adulthood on male reproductive health, including a critical revision of the endocrine disruption hypothesis, a comment on pubertal development as part of reproductive development and a comment on how to account for combined exposures in epidemiological research.

  7. Persisting effect of community approaches to resuscitation.

    Science.gov (United States)

    Nielsen, Anne Møller; Isbye, Dan Lou; Lippert, Freddy Knudsen; Rasmussen, Lars Simon

    2014-11-01

    On the Danish island of Bornholm an intervention was carried out during 2008-2010 aiming at increasing out-of-hospital cardiac arrest (OHCA) survival. The intervention included mass media focus on resuscitation and widespread educational activities. The aim of this study was to compare the bystander BLS rate and survival after OHCA on Bornholm in a 3-year follow-up period after the intervention took place. Data on OHCA on Bornholm were collected from September 28th, 2010 to September 27th, 2013 and compared to data from the intervention period, September 28th, 2008 to September 27th, 2010. The bystander BLS rate for non-EMS witnessed OHCAs with presumed cardiac aetiology was significantly higher in the follow-up period (70% [95% CI 61-77] vs. 47% [95% CI 37-57], p=0.001). AEDs were deployed in 22 (18%) cases in the follow-up period and a shock was provided in 13 cases. There was no significant change in all-rhythm 30-day survival for non-EMS witnessed OHCAs with presumed cardiac aetiology (6.7% [95% CI 3-13] in the follow-up period; vs. 4.6% [95% CI 1-12], p=0.76). In a 3-year follow-up period after an intervention engaging laypersons in resuscitation through mass education in BLS combined with a media focus on resuscitation, we observed a persistent significant increase in the bystander BLS rate for all OHCAs with presumed cardiac aetiology. There was no significant difference in 30-day survival. Copyright © 2014 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

  8. Persistent pulmonary hypertension of the newborn

    Science.gov (United States)

    Teng, Ru-Jeng; Wu, Tzong-Jin

    2013-01-01

    Persistent pulmonary hypertension of the newborn (PPHN) is a severe pulmonary disorder which occurs one in every 500 live births. About 10–50% of the victims will die of the problem and 7–20% of the survivors develop long term impairments such as hearing deficit, chronic lung disease, and intracranial bleed. Most of the adult survivors show evidence of augmented pulmonary vasoreactivity suggesting a phenotypical change. Several animal models have been used to study the pathophysiology and help to develop new therapeutic modality for PPHN. The etiology of PPHN can be classified into three groups: [A] abnormally constricted pulmonary vasculature due to parenchymal diseases; [B] hypoplastic pulmonary vasculature; [C] normal parenchyma with remodeled pulmonary vasculature. Impaired vasorelaxation of pulmonary artery and reduced blood vessel density in lungs are two characteristic findings in PPHN. Medical treatment includes sedation, oxygen, mechanical ventilation, vasorelaxants (inhaled nitric oxide, inhaled or intravenous prostacyclin, intravenous prostaglandin E1, magnesium sulfate), and inotropic agents. Phosphodiesterase inhibitor has recently been studied as another therapeutic agent for PPHN. Endothelin-1 (ET-1) inhibitor has been studied in animal and a case of premature infant with PPHN successfully treated with ET-I inhibitor has been reported in the literature. Surfactant has been reported as an adjunct treatment for PPHN as a complication of meconium aspiration syndrome. Even with the introduction of several new therapeutic modalities there has no significant change in survival rate. Extracorporeal membrane oxygenator is used when medical treatment fails and patient is considered to have a recoverable cause of PPHN. PMID:23537863

  9. Treatment of acral persistent papular mucinosis with electrocoagulation.

    Science.gov (United States)

    André Jorge, Flávia; Mimura Cortez, Tatiana; Guadalini Mendes, Fabiana; Esther Alencar Marques, Mariângela; Amante Miot, Hélio

    2011-01-01

    Acral persistent papular mucinosis is a rare localized form of lichen myxedematosus with few case reports and no documented therapeutic options. To report full resolution of acral persistent papular mucinosis after electrocoagulation. Case report of a 51-year-old white female diagnosed with an acral persistent papular mucinosis. The clinical and histopathologic features, treatment provided, and response to treatment are detailed. Acral persistent papular mucinosis presented as multiple asymptomatic normochromic papules on the wrists. Treatment with topical and intralesional steroids was unsatisfactory. Gentle electrocoagulation led to complete resolution of the lesions and negligible scarring. The favorable results remained for 6 months of follow-up, and no new lesions have emerged. Our case of acral persistent papular mucinosis was successfully treated with electrocoagulation and long-lasting, excellent cosmetic results.

  10. Statistical Inference for Porous Materials using Persistent Homology.

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Chul [Univ. of Georgia, Athens, GA (United States); Heath, Jason E. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Mitchell, Scott A. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2017-12-01

    We propose a porous materials analysis pipeline using persistent homology. We rst compute persistent homology of binarized 3D images of sampled material subvolumes. For each image we compute sets of homology intervals, which are represented as summary graphics called persistence diagrams. We convert persistence diagrams into image vectors in order to analyze the similarity of the homology of the material images using the mature tools for image analysis. Each image is treated as a vector and we compute its principal components to extract features. We t a statistical model using the loadings of principal components to estimate material porosity, permeability, anisotropy, and tortuosity. We also propose an adaptive version of the structural similarity index (SSIM), a similarity metric for images, as a measure to determine the statistical representative elementary volumes (sREV) for persistence homology. Thus we provide a capability for making a statistical inference of the uid ow and transport properties of porous materials based on their geometry and connectivity.

  11. Tool-effect: Controls on Landscape Persistence

    Science.gov (United States)

    Willenbring, J. K.; Brocard, G. Y.; Salles, T.; Harrison, E. J.

    2017-12-01

    The ability of rivers to cut through rock and to remove former land surfaces sets the pace of landscape response to mountain uplift. Because of associations between tectonism, river incision, erosion, carbon burial and silicate weathering, high rates of rock uplift are thought to initiate a cascade of processes that are linked to sequestration of CO2 over geologic timescales. However, even in some cases of landscapes experiencing rapid uplift, some portions of landscapes remain unchanged or `relict' for long periods and the fluxes of chemical weathering and physical erosion do not reflect the new tectonic regime-sometimes for millions of years following uplift. These relict portions of the landscape are often composed of subdued topography with thick soils. River incision is achieved by various processes, but one of the main contributors is bedrock abrasion by bedload. Here, we show how the presence of flat, relict landscapes in headwaters can lead to reduced incision rates and low erosion fluxes. We use a known pulse of uplift in Puerto Rico and track the river response to the uplift over time to illustrate a how landscapes in hot, humid climates can persist for millions of years even after rapid mountain uplift. We run experiments on simplified topography using numerical landscape evolution models. Typically, numerical landscape evolution models apply a standard stream power law model, whereby river incision is proportional to basal shear stress or unit stream power, and is not affected by gravel flux. We implement a formulation of the tool and cover effect model, and then we added a reinforcing effect of weathering on this process, by implementing a gravel production function. This function simulates the effect of the residence time of rocks in soil, which is expected to affect the grain-size distribution of the particles in the soil, with lower erosion rates, and longer residence time further decreasing the proportion of gravel delivered to the streams. We find

  12. Persistent or not persistent? Polychlorinated biphenyls are readily depurated by grizzly bears (Ursus arctos horribilis).

    Science.gov (United States)

    Christensen, Jennie R; Letcher, Robert J; Ross, Peter S

    2009-10-01

    Major pharmacokinetic processes influencing polychlorinated biphenyl (PCB) accumulation in mammals include uptake, biotransformation, respiration, and excretion. We characterized some of the factors underlying PCB accumulation/loss by evaluating PCB concentrations and patterns in pre- and posthibernation grizzly bears (Ursus arctos horribilis) and their prey. The PCB congeners with vicinal meta- and para-chlorine unsubstituted hydrogen positions consistently showed loss both before and during hibernation, supporting the idea of a dominant role for biotransformation. Retention of all other studied congeners relative to that of PCB 194 varied widely (from bears do not eat or excrete. We estimate that grizzly bears retain less than 10% of total PCBs taken up from their diet. Our results suggest that for grizzly bears, depuration of PCBs via biotransformation is important (explaining approximately 40% of loss), but that nonbiotransformation processes, such as excretion, may be more important (explaining approximately 60% of loss). These findings, together with the approximately 91% loss of the persistent PCB 153 congener relative to PCB 194 in grizzly bears, raise important questions about how one defines persistence of PCBs in wildlife and may have bearing on the interpretation of food-web biomagnification studies.

  13. Body fat and dairy product intake in lactase persistent and non-persistent children and adolescents.

    Science.gov (United States)

    Almon, Ricardo; Patterson, Emma; Nilsson, Torbjörn K; Engfeldt, Peter; Sjöström, Michael

    2010-06-16

    Lactase non-persistent (LNP) individuals may be lactose intolerant and therefore on a more restricted diet concerning milk and milk products compared to lactase persistent (LP) individuals. This may have an impact on body fat mass. This study examines if LP and LNP children and adolescents, defined by genotyping for the LCT-13910 C > T polymorphism, differ from each other with regard to milk and milk product intake, and measures of body fat mass. Children (n=298, mean age 9.6 years) and adolescents (n=386, mean age 15.6 years), belonging to the Swedish part of the European Youth Heart Study, were genotyped for the LCT-13910 C > T polymorphism. Dietary intakes of reduced and full-fat dairy varieties were determined. LNP (CC genotype) subjects consumed less milk, soured milk and yoghurt compared to LP (CT/TT genotype) subjects (pproducts than LP children and adolescents (p=0.009 for children and p=0.001 for adolescents). We conclude that LP is linked to an overall higher milk and dairy intake, but is not linked to higher body fat mass in children and adolescents.

  14. Inefficiency persistence and heterogeneity in Colombian electricity utilities

    International Nuclear Information System (INIS)

    Galán, Jorge E.; Pollitt, Michael G.

    2014-01-01

    The electricity reform in Colombia has exhibited gains in terms of reliability but its effects on firm efficiency and service quality have not been clear. Previous studies evaluating the performance of distribution companies after the reform have not found evidence of improvements, although large differences in efficiency have been found among firms. This suggests high inefficiency persistence and heterogeneity in the Colombian distribution sector. In this paper, we propose an extension of dynamic stochastic frontier models that accounts for unobserved heterogeneity in the inefficiency persistence and in the technology. The model incorporates total expenses, service quality and energy losses in an efficiency analysis of Colombian distributors over fifteen years after the reform. We identify the presence of high inefficiency persistence in the sector, and important differences between firms. In particular, rural companies and firms with small customers present low persistence and evidence the largest gains in efficiency during the period. However, increases in efficiency are only manifested during thelast five years when the main improvements in service quality and energy losses are presented. Overall, inefficiency persistence, customer density and consumption density are found to be important criteria to be considered for regulatory purposes. - Highlights: • We evaluate efficiency of Colombian electricity distributors after the reform. • We use a stochastic frontier model with dynamic effects and heterogeneity. • We find high inefficiency persistence but important differences among firms. • High persistent and low efficient firms should draw the attention of the regulator. • Recent regulation in quality has increased not only efficiency but also tariffs

  15. On the causes of persistent apical periodontitis: a review.

    Science.gov (United States)

    Nair, P N R

    2006-04-01

    Apical periodontitis is a chronic inflammatory disorder of periradicular tissues caused by aetiological agents of endodontic origin. Persistent apical periodontitis occurs when root canal treatment of apical periodontitis has not adequately eliminated intraradicular infection. Problems that lead to persistent apical periodontitis include: inadequate aseptic control, poor access cavity design, missed canals, inadequate instrumentation, debridement and leaking temporary or permanent restorations. Even when the most stringent procedures are followed, apical periodontitis may still persist as asymptomatic radiolucencies, because of the complexity of the root canal system formed by the main and accessory canals, their ramifications and anastomoses where residual infection can persist. Further, there are extraradicular factors -- located within the inflamed periapical tissue -- that can interfere with post-treatment healing of apical periodontitis. The causes of apical periodontitis persisting after root canal treatment have not been well characterized. During the 1990s, a series of investigations have shown that there are six biological factors that lead to asymptomatic radiolucencies persisting after root canal treatment. These are: (i) intraradicular infection persisting in the complex apical root canal system; (ii) extraradicular infection, generally in the form of periapical actinomycosis; (iii) extruded root canal filling or other exogenous materials that cause a foreign body reaction; (iv) accumulation of endogenous cholesterol crystals that irritate periapical tissues; (v) true cystic lesions, and (vi) scar tissue healing of the lesion. This article provides a comprehensive overview of the causative factors of non-resolving periapical lesions that are seen as asymptomatic radiolucencies post-treatment.

  16. Transient, but not persistent, adult food insecurity influences toddler development.

    Science.gov (United States)

    Hernandez, Daphne C; Jacknowitz, Alison

    2009-08-01

    In this study, we examined characteristics associated with experiencing persistent and transitional adult food insecurity and how persistent and transitional adult food insecurity influences toddler cognitive and motor development, along with toddler's weight and health status. Using the first 2 waves of the Early Childhood Longitudinal Study-Birth Cohort, 4 mutually exclusive variables capturing persistent and transitional adult food insecurity were created to capture those adults that experience adult food insecurity in the following: both waves, in 1 wave (at 9 or 24 mo after birth), and never experience food insecurity. We used logistic regression models to estimate characteristics associated with the likelihood of experiencing persistent and transitional adult food insecurity. Ordinary least squares regression models were used to estimate how persistent and transitional adult food insecurity influences toddler development. Similar factors influenced one's likelihood of experiencing adult transitional and persistent food insecurity; individuals who experienced any food insecurity were more economically disadvantaged. Thus, outreach efforts do not need to vary by duration of food insecurity. Whereas negative effects of food insecurity on school-aged children are found in the literature, it appears toddlers are buffered from the effects of persistent adult food insecurity. Our findings suggest that toddlers residing with a temporarily food-insecure adult compared with a never food-insecure adult experienced immediate, but small, negative effects on their development. Hence, outreach and assistance may lessen immediate impacts of food insecurity on toddler development.

  17. Non-persistent pesticides removal in constructed wetlands

    Science.gov (United States)

    Tu, Yue; Jiang, Lei; Li, Haixiang

    2018-03-01

    The heavy use of non-persistent pesticides, resulting in the accumulation of environment and destroy the aquatic environment. This paper presents the research status of using CWs to treat non-persistent pesticides in water. The removal mechanisms are mainly physical deposition, chemical hydrolysis and plant absorption. Analysis of the factors that affect the removal effect are mainly the nature of pesticides, HRT, plants. Some scholars have proposed that secondary products of non-persistent pesticides may be more harmful to the environment, However, the relevant reports are scarce.

  18. Persistent current through a semiconductor quantum dot with Gaussian confinement

    International Nuclear Information System (INIS)

    Boyacioglu, Bahadir; Chatterjee, Ashok

    2012-01-01

    The persistent diamagnetic current in a GaAs quantum dot with Gaussian confinement is calculated. It is shown that except at very low temperature or at high temperature, the persistent current increases with decreasing temperature. It is also shown that as a function of the dot size, the diamagnetic current exhibits a maximum at a certain confinement length. It is furthermore shown that for a shallow potential, the persistent current shows an interesting maximum structure as a function of the depth of the potential. At low temperature, the peak structure is pretty sharp but becomes broader and broader with increasing temperature.

  19. Entropy measurements in paroxysmal and persistent atrial fibrillation

    International Nuclear Information System (INIS)

    Cervigón, R; Moreno, J; Pérez-Villacastín, J; Reilly, R B; Millet, J; Castells, F

    2010-01-01

    Recent studies on atrial fibrillation (AF) have identified different activation patterns in paroxysmal and persistent AF. In this study, bipolar intra-atrial registers from 28 patients (14 paroxysmal AF and 14 persistent AF) were analyzed in order to find out regional differences in the organization in both types of arrhythmias. The organization of atrial electrical activity was assessed in terms of nonlinear parameters, such as entropy measurements. Results showed differences between the atrial chambers with a higher disorganization in the left atrium in paroxysmal AF patients and a more homogenous behavior along the atria in persistent AF patients

  20. Near-Infrared Quantum Cutting Long Persistent Luminescence

    OpenAIRE

    Zou, Zehua; Feng, Lin; Cao, Cheng; Zhang, Jiachi; Wang, Yuhua

    2016-01-01

    By combining the unique features of the quantum cutting luminescence and long persistent luminescence, we design a new concept called ?near-infrared quantum cutting long persistent luminescence (NQPL)?, which makes it possible for us to obtain highly efficient (>100%) near-infrared long persistent luminescence in theory. Guided by the NQPL concept, we fabricate the first NQPL phosphor Ca2Ga2GeO7:Pr3+,Yb3+. It reveals that both the two-step energy transfer of model (I) and the one-step energy ...

  1. Real exchange rate persistence and the excess return puzzle

    DEFF Research Database (Denmark)

    Juselius, Katarina; Assenmacher, Katrin

    2017-01-01

    The PPP puzzle refers to the wide swings of nominal exchange rates around their long-run equilibrium values whereas the excess return puzzle represents the persistent deviation of the domestic-foreign interest rate differential from the expected change in the nominal exchange rate. Using the I(2......) cointegrated VAR model, much of the excess return puzzle disappears when an uncertainty premium in the foreign exchange market, proxied by the persistent PPP gap, is introduced. Self-reinforcing feedback mechanisms seem to cause the persistence in the Swiss-US parity conditions. These results support imperfect...

  2. Electronic States and Persistent Currents in Nanowire Quantum Ring

    Science.gov (United States)

    Kokurin, I. A.

    2018-04-01

    The new model of a quantum ring (QR) defined inside a nanowire (NW) is proposed. The one-particle Hamiltonian for electron in [111]-oriented NW QR is constructed taking into account both Rashba and Dresselhaus spin-orbit coupling (SOC). The energy levels as a function of magnetic field are found using the exact numerical diagonalization. The persistent currents (both charge and spin) are calculated. The specificity of SOC and arising anticrossings in energy spectrum lead to unusual features in persistent current behavior. The variation of magnetic field or carrier concentration by means of gate can lead to pure spin persistent current with the charge current being zero.

  3. The Persistence of Profits in Azerbaijan's Banking System

    Directory of Open Access Journals (Sweden)

    K. Batu TUNAY

    2015-06-01

    Full Text Available In this research, the persistence of profits in Azerbaijan's banking sector in the short-run and the long-run is investigated. Although there are a lot of researches done in the case of different countries, enough study has been implemented for the case of Azerbaijan despite of its high speed economic growth. This research analysis continuity of profits by using system panel data method. Obtained results indicate that profits demonstrate no persistence or a little persistence. In this context, existence of competitive powers in the sector can be stated.

  4. Persistent Skin Reactions and Aluminium Hypersensitivity Induced by Childhood Vaccines

    DEFF Research Database (Denmark)

    Salik, Elaha; Løvik, Ida; Andersen, Klaus E

    2016-01-01

    There is increasing awareness of reactions to vaccination that include persistent skin reactions. We present here a retrospective investigation of long-lasting skin reactions and aluminium hypersensitivity in children, based on medical records and questionnaires sent to the parents. In the 10-year...... period 2003 to 2013 we identified 47 children with persistent skin reactions caused by childhood vaccinations. Most patients had a typical presentation of persisting pruritic subcutaneous nodules. Five children had a complex diagnostic process involving paediatricians, orthopaedics and plastic surgeons...... treated with potent topical corticosteroids and disappeared slowly. Although we advised families to continue vaccination of their children, one-third of parents omitted or postponed further vaccinations....

  5. Persistent hyperthyroidism and de novo Graves' ophthalmopathy after total thyroidectomy.

    Science.gov (United States)

    Tay, Wei Lin; Loh, Wann Jia; Lee, Lianne Ai Ling; Chng, Chiaw Ling

    2017-01-01

    We report a patient with Graves' disease who remained persistently hyperthyroid after a total thyroidectomy and also developed de novo Graves' ophthalmopathy 5 months after surgery. She was subsequently found to have a mature cystic teratoma containing struma ovarii after undergoing a total hysterectomy and salpingo-oophorectomy for an incidental ovarian lesion. It is important to investigate for other causes of primary hyperthyroidism when thyrotoxicosis persists after total thyroidectomy.TSH receptor antibody may persist after total thyroidectomy and may potentially contribute to the development of de novo Graves' ophthalmopathy.

  6. Body fat and dairy product intake in lactase persistent and non-persistent children and adolescents

    Directory of Open Access Journals (Sweden)

    Ricardo Almon

    2010-06-01

    Full Text Available Background : Lactase non-persistent (LNP individuals may be lactose intolerant and therefore on a more restricted diet concerning milk and milk products compared to lactase persistent (LP individuals. This may have an impact on body fat mass. Objective : This study examines if LP and LNP children and adolescents, defined by genotyping for the LCT-13910 C > T polymorphism, differ from each other with regard to milk and milk product intake, and measures of body fat mass. Design : Children (n=298, mean age 9.6 years and adolescents (n=386, mean age 15.6 years, belonging to the Swedish part of the European Youth Heart Study, were genotyped for the LCT-13910 C > T polymorphism. Dietary intakes of reduced and full-fat dairy varieties were determined. Results : LNP (CC genotype subjects consumed less milk, soured milk and yoghurt compared to LP (CT/TT genotype subjects (p<0.001. Subsequent partitioning for age group attenuated this observation (p=0.002 for children and p=0.023 in adolescents. Six subjects were reported by parents to be ‘lactose intolerant’, none of whom were LNP. LNP children and adolescents consumed significantly less reduced fat milk and milk products than LP children and adolescents (p=0.009 for children and p = 0.001 for adolescents. Conclusions : We conclude that LP is linked to an overall higher milk and dairy intake, but is not linked to higher body fat mass in children and adolescents.

  7. Persistency of atmospheric diffusion conditions in Angra dos Reis - Brazil

    International Nuclear Information System (INIS)

    Nicolli, D.

    1981-12-01

    Based on a 2 year observation period, the diffusion conditions at the Almirante Alvaro Alberto N.P.P. site, in Angra dos Reis, are analized with respect to persistency as a function of the wind direction, the Pasquill stability class and the time of the day. The Pasquill stability class relates to the bulk vertical temperature gradient measured between 2m and 50m in the atmosphere; the wind direction is measured at 50m height. The persistency is defined in this report as the probability that the wind direction will remain longer than a given time in a sector without change in the diffusion category by more than a certain stage. During the day the persistency is mostly affected by the sea breeze with predominance of the unstable and neutral categories. At night the stable categories dominate. The alternating sea and land breezes disturb daily the trade wind field resulting in low persistency of the diffusion conditions. (Author) [pt

  8. Speciation and Persistence of Dimethoate in the Aquatic Environment

    African Journals Online (AJOL)

    Speciation and Persistence of Dimethoate in the Aquatic Environment: Characterization in Terms of a Rate Model that Takes Into Account Hydrolysis, Photolysis, Microbial Degradation and Adsorption of the Pesticide by Colloidal and Sediment Particles.

  9. Persistent Acacia savannas replace Mediterranean sclerophyllous forests in South America

    NARCIS (Netherlands)

    Wouw, van de P.; Echeverria, C.; Rey-Benayas, J.M.; Holmgren, M.

    2011-01-01

    Mediterranean ecosystems are global hotspots of biodiversity threaten by human disturbances. Growing evidence indicates that regeneration of Mediterranean forests can be halted under certain circumstances and that successional stages can become notoriously persistent. The Mediterranean

  10. On spurious anti-persistence in the US stock indices

    International Nuclear Information System (INIS)

    Kristoufek, Ladislav

    2010-01-01

    We reexamine the results of Serletis and Rosenberg [Serletis A, Rosenberg A. Mean reversion in the US stock market. Chaos, Solitons and Fractals 2009;40:2007-2015.] who claim that the returns of the most important US stock indices (DJI, NASDAQ, NYSE and S and P500) are strongly anti-persistent and thus mean reverting. We apply various methods to detect long-range dependence - detrending moving average, detrended fluctuation analysis, generalized Hurst exponent approach, classical rescaled range analysis and modified rescaled range analysis. We show that there are no signs of anti-persistence in any of the indices. Moreover, we discuss that the authors did not find any anti-persistence but rather showed returns of the said assets do not follow the scaling power law around their moving average with varying window length. Anti-persistence is thus spurious and due to wrong application of detrending moving average method.

  11. Adapt or disperse: understanding species persistence in a changing world.

    NARCIS (Netherlands)

    Berg, M.P.; Kiers, E.T.; Driessen, G.J.J.; van der Heijden, M.G.A.; Kooi, B.W.; Kuenen, F.J.A.; Liefting, M.; Verhoef, H.A.; Ellers, J.

    2010-01-01

    The majority of studies on environmental change focus on the response of single species and neglect fundamental biotic interactions, such as mutualism, competition, predation, and parasitism, which complicate patterns of species persistence. Under global warming, disruption of community interactions

  12. Persistence of Initial Conditions in Continental Scale Air Quality Simulations

    Data.gov (United States)

    U.S. Environmental Protection Agency — This dataset contains the data used in Figures 1 – 6 and Table 2 of the technical note "Persistence of Initial Conditions in Continental Scale Air Quality...

  13. DSaaS: A cloud service for persistent data structures

    CSIR Research Space (South Africa)

    Le Roux, PB

    2016-04-01

    Full Text Available 2CSIR/SU Centre for Artificial Intelligence Research pierrebleroux@gmail.com, kroon@sun.ac.za, whkbester@cs.sun.ac.za Keywords: DaaS, SaaS, Cloud Computing, Persistent Data Structure, Version...

  14. The persistence of gender inequality in Zimbabwe: factors that ...

    African Journals Online (AJOL)

    The persistence of gender inequality in Zimbabwe: factors that impede the ... Specifically, we sought to identify the factors perceived by women school heads to be causes ... all other roles; and lack of support from the home and the workplace.

  15. Stochastic Resonance of Accretion Disk and the Persistent Low ...

    Indian Academy of Sciences (India)

    luminosity and power spectral density (PSD) for an oscillating disk. Then ... interpretation of the persistent low-frequency quasi-periodic oscillations ... response of the system is enhanced by the noise due to the cooperative effect of noise.

  16. Persistent villi hypoperfusion explains intramucosal acidosis in sheep endotoxemia

    NARCIS (Netherlands)

    Dubin, Arnaldo; Edul, Vanina Siham Kanoore; Pozo, Mario Omar; Murias, Gastón; Canullán, Carlos Manuel; Martins, Enrique Francisco; Ferrara, Gonzalo; Canales, Héctor Saul; Laporte, Mercedes; Estenssoro, Elisa; Ince, Can

    2008-01-01

    OBJECTIVE: To test the hypothesis that persistent villi hypoperfusion explains intramucosal acidosis after endotoxemic shock resuscitation. DESIGN: Controlled experimental study. SETTING: University-based research laboratory. SUBJECTS: A total of 14 anesthetized, mechanically ventilated sheep.

  17. Persistence of attention deficit/hyperactivity disorder into adulthood ...

    African Journals Online (AJOL)

    Persistence of attention deficit/hyperactivity disorder into adulthood: A study conducted on parents of children diagnosed with attention deficit/hyperactivity disorder. ... 10, No 1 (2007) >. Log in or Register to get access to full text downloads.

  18. Correlation of Persistence, Initiative and Career Anchors Categories of Students

    Directory of Open Access Journals (Sweden)

    I A Novikova

    2008-03-01

    Full Text Available The article is devoted to the analysis of the results of comparative empirical study of persistence, initiative and Career Anchors categories of the students on the basis of the systemic-functional approach.

  19. Persistent Skin Reactions and Aluminium Hypersensitivity Induced by Childhood Vaccines.

    Science.gov (United States)

    Salik, Elaha; Løvik, Ida; Andersen, Klaus E; Bygum, Anette

    2016-11-02

    There is increasing awareness of reactions to vaccination that include persistent skin reactions. We present here a retrospective investigation of long-lasting skin reactions and aluminium hypersensitivity in children, based on medical records and questionnaires sent to the parents. In the 10-year period 2003 to 2013 we identified 47 children with persistent skin reactions caused by childhood vaccinations. Most patients had a typical presentation of persisting pruritic subcutaneous nodules. Five children had a complex diagnostic process involving paediatricians, orthopaedics and plastic surgeons. Two patients had skin biopsies performed from their skin lesions, and 2 patients had the nodules surgically removed. Forty-two children had a patch-test performed with 2% aluminium chloride hexahydrate in petrolatum and 39 of them (92%) had a positive reaction. The persistent skin reactions were treated with potent topical corticosteroids and disappeared slowly. Although we advised families to continue vaccination of their children, one-third of parents omitted or postponed further vaccinations.

  20. Cosmic censorship, persistent curvature and asymptotic causal pathology

    International Nuclear Information System (INIS)

    Newman, R.P.A.C.

    1984-01-01

    The paper examines cosmic censorship in general relativity theory. Conformally flat space-times; persistent curvature; weakly asymptotically simple and empty asymptotes; censorship conditions; and the censorship theorem; are all discussed. (U.K.)

  1. Regional Persistent Organic Pollutants' Environmental Impact Assessment and Control Model

    Directory of Open Access Journals (Sweden)

    Jurgis Staniskis

    2008-10-01

    Full Text Available The sources of formation, environmental distribution and fate of persistent organic pollutants (POPs are increasingly seen as topics to be addressed and solved at the global scale. Therefore, there are already two international agreements concerning persistent organic pollutants: the Protocol of 1998 to the 1979 Convention on the Long-Range Transboundary Air Pollution on Persistent Organic Pollutants (Aarhus Protocol; and the Stockholm Convention on Persistent Organic Pollutants. For the assessment of environmental pollution of POPs, for the risk assessment, for the evaluation of new pollutants as potential candidates to be included in the POPs list of the Stokholmo or/and Aarhus Protocol, a set of different models are developed or under development. Multimedia models help describe and understand environmental processes leading to global contamination through POPs and actual risk to the environment and human health. However, there is a lack of the tools based on a systematic and integrated approach to POPs management difficulties in the region.

  2. Lactase persistence genotypes and malaria susceptibility in Fulani of Mali

    Directory of Open Access Journals (Sweden)

    Dolo Amagana

    2011-01-01

    Full Text Available Abstract Background Fulani are a widely spread African ethnic group characterized by lower susceptibility to Plasmodium falciparum, clinical malaria morbidity and higher rate of lactase persistence compared to sympatric tribes. Lactase non-persistence, often called lactose intolerance, is the normal condition where lactase activity in the intestinal wall declines after weaning. Lactase persistence, common in Europe, and in certain African people with traditions of raising cattle, is caused by polymorphisms in the enhancer region approximately 14 kb upstream of the lactase gene. Methods To evaluate the relationship between malaria and lactase persistence genotypes, a 400 bp region surrounding the main European C/T-13910 polymorphism upstream of the lactase gene was sequenced. DNA samples used in the study originated from 162 Fulani and 79 Dogon individuals from Mali. Results Among 79 Dogon only one heterozygote of the lactase enhancer polymorphism was detected, whereas all others were homozygous for the ancestral C allele. Among the Fulani, the main European polymorphism at locus C/T-13910 was by far the most common polymorphism, with an allele frequency of 37%. Three other single-nucleotide polymorphisms were found with allele frequencies of 3.7%, 1.9% and 0.6% each. The novel DNA polymorphism T/C-13906 was seen in six heterozygous Fulani. Among the Fulani with lactase non-persistence CC genotypes at the C/T-13910 locus, 24% had malaria parasites detectable by microscopy compared to 18% for lactase persistent genotypes (P = 0.29. Pooling the lactase enhancer polymorphisms to a common presumptive genotype gave 28% microscopy positives for non-persistent and 17% for others (P = 0.11. Conclusions Plasmodium falciparum parasitaemia in asymptomatic Fulani is more common in individuals with lactase non-persistence genotypes, but this difference is not statistically significant. The potential immunoprotective properties of dietary cow milk as a reason

  3. Determination and Correction of Persistent Biases in Quantum Annealers

    Science.gov (United States)

    2016-08-25

    for all of the qubits. Narrowing of the bias distribution. To show the correctability of the persistent biases , we ran the experiment described above...this is a promising application for bias correction . Importantly, while the J biases determined here are in general smaller than the h biases , numerical...1Scientific RepoRts | 6:18628 | DOI: 10.1038/srep18628 www.nature.com/scientificreports Determination and correction of persistent biases in quantum

  4. The long persistence of regional entrepreneurship culture: Germany 1925 - 2005

    OpenAIRE

    Fritsch, Michael; Wyrwich, Michael

    2012-01-01

    We investigate the persistence of levels of self-employment and new business formation in different time periods and under different framework conditions. The analysis shows that high levels of regional self-employment and new business formation tend to be persistent for periods as long as 80 years and that such an entrepreneurial culture can even survive abrupt and drastic changes in the politic-economic environment. We thus conclude that regional entrepreneurship cultures do exist and that ...

  5. Persistence of Overseeded Cool-Season Grasses in Bermudagrass Turf

    OpenAIRE

    Thomas Serensits; Matthew Cutulle; Jeffrey F. Derr

    2011-01-01

    Cool-season grass species are commonly overseeded into bermudagrass turf for winter color. When the overseeded grass persists beyond the spring; however, it becomes a weed. The ability of perennial ryegrass, Italian (annual) ryegrass, intermediate ryegrass, and hybrid bluegrass to persist in bermudagrass one year after seeding was determined. Perennial ryegrass, intermediate ryegrass, and Italian ryegrass produced acceptable ground cover in the spring after fall seeding. Hybrid bluegrass di...

  6. Career Persistence Model for Female Engineers in the Indonesian Context

    OpenAIRE

    Lies Dahlia; Lenny Sunaryo

    2017-01-01

    Extant studies about female engineers have suggested their career persistency in the engineering career is influenced by the workplace, which is characterized by male dominated culture making them feel marginalized. In Indonesia, similar studies for reference are limited. This paper is based on an exploratory quantitative study using a questionnaire developed based on the Career Persistence Model. This paper is based on an empirical exploratory quantitative study by adopting Buse’s et al. Car...

  7. The existence and persistence of household financial hardship

    OpenAIRE

    Brown, S.; Ghosh, P.; Taylor, K.

    2012-01-01

    We investigate the existence and persistence of financial hardship at the household level using data from the British Household Panel Survey. Our modelling strategy makes three important contributions to the existing literature on household finances. Firstly, we model nine different types of household financial problems within a joint framework, allowing for correlation in the random effects across the nine equations. Secondly, we develop a dynamic framework in order to model the persistence ...

  8. Postflood persistence and recolonization of endangered tidewater goby populations

    Science.gov (United States)

    Lafferty, Kevin D.; Swift, Camm C.; Ambrose, Richard F.

    1999-01-01

    Before-and-after surveys at several southern California sites indicated that populations of endangered tidewater goby Eucyclogobius newberryi persisted through heavy flooding in 1995. This was contrary to our expectations that flooding might have led to extirpation in some smaller wetlands. There was also no significant change in tidewater goby density before and after the flooding. Several apparent recolonization events coincided with the flood, suggesting that flooding may be important for the long-term persistence of the species.

  9. Does Investors' Sophistication Affect Persistence and Pricing of Discretionary Accruals?

    OpenAIRE

    Lanfeng Kao

    2007-01-01

    This paper examines whether the sophistication of market investors influences management's strategy on discretionary accounting choice, and thus changes the persistence of discretionary accruals. The results show that the persistence of discretionary accruals for firms face with naive investors is lower than that for firms face with sophisticated investors. The results also demonstrate that sophisticated investors indeed incorporate the implications of current earnings components into future ...

  10. The Design and Implementation of Persistence in the Annex System

    Science.gov (United States)

    2009-08-01

    MONADS [Rosenberg 1990], Grasshopper [Dearle, di Bona et al. 1993], the Walnut kernel [Castro 1996], the L3 microkernel [Liedtke 1993] and its...successor L4 [Skoglund, Ceelen & Liedtke 2000], KeyKOS [Hardy 1985] and Charm [Dearle & Hulse 2000]. There is a great difference in design between these...persistence are Annex and the L4 micro-kernel [Skoglund, Ceelen & Liedtke 2000]. In either case, to implement some form of persistence a system must have a

  11. Great Expectations: The Persistent Effect of Institutions on Culture

    OpenAIRE

    Litina, Anastasia

    2014-01-01

    This research exploits the event of immigration to establish that institutions have a persistent effect on culture. It is argued that immigrants coming from corrupt countries, tend to overtrust the institutions at the host country. This inflated trust of immigrants is documented as the Great Expectations effect. This result is interesting and intriguing for several reasons. First, it highlights the persistent effect of institutions (at the origin coun- try) on the cultural attitudes of immigr...

  12. Effects of interferon on cultured cells persistently infected with viruses

    Energy Technology Data Exchange (ETDEWEB)

    Crespi, M

    1986-01-01

    The role of interferon (IFN) in viral persistence at the cellular level was investigated. Two types of persistent infections were chosen. The first type was cell lines which contained hepatitis B virus (HBV) DNA (PLC/PRF/5 and Hep 3B cells) uninfected control hepatoma cells, (Mahlavu, HA22T and Hep G2 cells) or simian virus 40 (SV40) DNA (C2, C6, C11 cells) and control uninfected (CV-1 cells). In the second type of infection Vero cells persistently infected with SSPE or Sendai virus were used. The aim of this work was to determine what effect IFN had in these infections in terms of its antiviral and antiproliferative effects; which of the two major IFN-induced pathways, E enzyme or protein kinase were induced; whether there were any differences in sensitivity to IFN between the DNA and RNA virus persistent infections. The anti-viral effect of IFN was examined by its ability to inhibit Sindbis virus replication using a radioimmunoassay system. The antiproliferative effect of IFN was determined by cell counting and /sup 3/H-thymidine incorporation. The activation of the ribonuclease F, determined by the inhibition of /sup 3/H-leucine incorporation after introduction of 2-5 actin into the cells, was variable, being activated in all cell lines with the exception of the PLC/PRF/5, Hep 3B and Hep G2 cells. Major differences between the two DNA persistent infections and the two RNA persistent infections were found. No correlation was found between the presence of HBV or SV40 persistent infections and the sensitivity of the cell lines to IFN. Both the SSPE and Sendai virus persistent infections were resistant to the antiviral and antiproliferative effect of IFN.

  13. Professional Role Confidence and Gendered Persistence in Engineering

    OpenAIRE

    Cech, Erin; Rubineau, Brian; Seron, Caroll; Silbey, Susan S.

    2011-01-01

    Social psychological research on gendered persistence in science, technology, engineering, and mathematics (STEM) professions is dominated by two explanations: women leave because they perceive their family plans to be at odds with demands of STEM careers, and women leave due to low self-assessment of their skills in STEM’s intellectual tasks, net of their performance. This study uses original panel data to examine behavioral and intentional persistence among students who enter an engineering...

  14. Two cases of neonatal adrenal hemorrhage presenting with persistent jaundice.

    Science.gov (United States)

    Ruffini, E; De Petris, L; Zorzi, G; Paoletti, P; Mambelli, G; Carlucci, A

    2013-01-01

    The adrenal hemorrhage is a relatively rare event in newborns but must be considered in the presence of a persistent unexplained jaundice, especially in presence of predisposing factors. Serial ultrasonography is the modality of choice for initial diagnosis and follow-up of neonatal adrenal hemorrhage. We report two cases of neonatal adrenal hemorrhage presenting with persistent jaundice. The causes of the neonatal adrenal hemorrhages were a difficult vaginal delivery in macrosomic infant and a neonatal infection.

  15. Neonatal intestinal volvulus due to a persistent right vitelline artery.

    Science.gov (United States)

    Loh, Amos H P; Prasad, Sai T R; Chew, Sung-Hock; Jacobsen, Anette S

    2007-04-01

    We report a case of neonatal intestinal volvulus around a persistent right vitelline artery, presenting as an aberrant parieto-mesenteric band on exploratory laparotomy. To our knowledge, this is the first case report in the English literature of a persistent right vitelline artery causing axial intestinal volvulus in a neonate. A review of the literature and the embryopathogenesis is discussed, as well as the importance of emergent diagnoses of such lesions.

  16. Persister formation in Staphylococcus aureus is associated with ATP depletion

    Energy Technology Data Exchange (ETDEWEB)

    Conlon, Brian P.; Rowe, Sarah E.; Gandt, Autumn Brown; Nuxoll, Austin S.; Donegan, Niles P.; Zalis, Eliza A.; Clair, Geremy; Adkins, Joshua N.; Cheung, Ambrose L.; Lewis, Kim

    2016-04-18

    Persisters are dormant phenotypic variants of bacterial cells that are tolerant to killing by antibiotics1. Persisters are associated with chronic bacterial infection and antibiotic treatment failure. In Escherichia coli, toxin/antitoxin (TA) modules are responsible for persister formation. The mechanism of persister formation in Gram positive bacteria is unknown. Staphylococcus aureus is a major human pathogen, responsible for a variety of chronic and relapsing infections such as osteomyelitis, endocarditis and infections of implanted devices. Deleting TA modules in S. aureus did not affect the level of persisters. Here we show that S. aureus persisters are produced due to a stochastic entrance to stationary phase accompanied by a drop in intracellular ATP. Cells expressing stationary state markers are present throughout the growth phase, increasing in frequency with cell density. Cell sorting revealed that expression of stationary markers was associated with a 100-1000 fold increased likelihood of survival to antibiotic challenge. We find that the antibiotic tolerance of these cells is due to a drop in intracellular ATP. The ATP level of the cell is predictive of bactericidal antibiotic efficacy and explains bacterial tolerance to antibiotic treatment.

  17. Brain differences between persistent and remitted attention deficit hyperactivity disorder.

    Science.gov (United States)

    Mattfeld, Aaron T; Gabrieli, John D E; Biederman, Joseph; Spencer, Thomas; Brown, Ariel; Kotte, Amelia; Kagan, Elana; Whitfield-Gabrieli, Susan

    2014-09-01

    Previous resting state studies examining the brain basis of attention deficit hyperactivity disorder have not distinguished between patients who persist versus those who remit from the diagnosis as adults. To characterize the neurobiological differences and similarities of persistence and remittance, we performed resting state functional magnetic resonance imaging in individuals who had been longitudinally and uniformly characterized as having or not having attention deficit hyperactivity disorder in childhood and again in adulthood (16 years after baseline assessment). Intrinsic functional brain organization was measured in patients who had a persistent diagnosis in childhood and adulthood (n = 13), in patients who met diagnosis in childhood but not in adulthood (n = 22), and in control participants who never had attention deficit hyperactivity disorder (n = 17). A positive functional correlation between posterior cingulate and medial prefrontal cortices, major components of the default-mode network, was reduced only in patients whose diagnosis persisted into adulthood. A negative functional correlation between medial and dorsolateral prefrontal cortices was reduced in both persistent and remitted patients. The neurobiological dissociation between the persistence and remittance of attention deficit hyperactivity disorder may provide a framework for the relation between the clinical diagnosis, which indicates the need for treatment, and additional deficits that are common, such as executive dysfunctions. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. THE ROLE OF PERSISTENCE IN STUDENTS’ SELF-REALIZATION

    Directory of Open Access Journals (Sweden)

    Sergey I. Kudinov

    2017-12-01

    Full Text Available The paper analyzes the results of an empirical research obtained with the help of a sample of students. The research of persistence was carried out within the framework of the dispositional concept of personality traits and individuality by A. I. Krupnov. The techniques developed by A. I. Krupnov as well as the author’s test of persistence were used in the study. After allocating the levels of persistence, the features of self-realization were analyzed in each group of the respondents. The specificity of self-realization was revealed in the context of the author’s polysystemic concept, the author’s multidimensional questionnaire on personality’s self-realization (MQPSR was used as a diagnostic tool. The empirical study revealed statistically significant differences in the specifics of self-realization of the students with different levels of persistence manifestation. The respondents with a high level of persistence realize themselves more successfully in different spheres of life due to the obvious active behaviour, optimistic attitude, high motivation, creative methods and techniques of self-expression, internal self-regulation and constructive behavior. The students with low persistence lack successful self-realization because of passivity, pessimism, external locus of self-control, a high level of barriers and standard simple schemes of self-expression.

  19. Presynaptic learning and memory with a persistent firing neuron and a habituating synapse: a model of short term persistent habituation.

    Science.gov (United States)

    Ramanathan, Kiruthika; Ning, Ning; Dhanasekar, Dhiviya; Li, Guoqi; Shi, Luping; Vadakkepat, Prahlad

    2012-08-01

    Our paper explores the interaction of persistent firing axonal and presynaptic processes in the generation of short term memory for habituation. We first propose a model of a sensory neuron whose axon is able to switch between passive conduction and persistent firing states, thereby triggering short term retention to the stimulus. Then we propose a model of a habituating synapse and explore all nine of the behavioral characteristics of short term habituation in a two neuron circuit. We couple the persistent firing neuron to the habituation synapse and investigate the behavior of short term retention of habituating response. Simulations show that, depending on the amount of synaptic resources, persistent firing either results in continued habituation or maintains the response, both leading to longer recovery times. The effectiveness of the model as an element in a bio-inspired memory system is discussed.

  20. Role of microphthalmia transcription factor (Mitf) in melanoma differentiation

    International Nuclear Information System (INIS)

    Lekmine, Fatima; Chang, C.K.; Sethakorn, Nan; Das Gupta, Tapas K.; Salti, George I.

    2007-01-01

    We transfected the melanocyte-specific Mitf-M isoform into the aggressive melanoma UISO-Mel-6 cell lines. Our data show that Mitf decreases cell proliferation and results in cells which grow in clusters. By analyzing the expression of the markers of differentiation, we demonstrate that Mitf favored increased expression of tyrosinase and tyrosinase-related protein-1. In addition, Mitf induces Bcl-2 expression following transfection of UISO-Mel-6 cells. We also showed that Mitf gene affects cell-cycle distribution by resting cells preferentially in G2/G1 phase, and inducing the expression of p21 and p27. Moreover, we performed in vivo studies using subcutaneous injection of UISO-Mel-6 and UISO-Mel-6-Mitf in Balb/c nude mice. Our data show that Mitf inhibits tumor growth and decreases Ki67 expression. Tumors induced by UISO-Mel-6 cells were ulcerated and resulted in metastases to liver. None of the mice injected with UISO-Mel-6 Mitf+ cells harbored liver metastases. Our results suggest that Mitf is involved in melanoma differentiation and leads to a less aggressive phenotype