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Sample records for microphthalmia persistent hyperplastic

  1. Persistent hyperplastic primary vitreous (PHPV) in two Siberian husky dogs.

    Science.gov (United States)

    Ori, J; Yoshikai, T; Yoshimura, S; Takenaka, S

    1998-02-01

    Three eyes in two Siberian husky dogs were clinically diagnosed as persistent hyperplastic primary vitreous (PHPV) by means of ophthalmoscopy and ultrasonography (USG). Examination of mildly affected PHPV eyes with an ophthalmoscope showed the axial part of the posterior capsule to be opaque. The central lesion of the posterior capsule in severely affected eyes had been opaque with many blood vessels. Echographic changes in mild cases of PHPV were outside of the lens, linearly hyperechoic, parallel to the posterior lens capsule. In a severely affected eyeball, funnel-shaped hyperechoic change was noted in the retrolental space. Two months later, phacoemulsification was performed for diagnostic treatment of PHPV since progressive cataract was observed in this eye.

  2. Changes in the contralateral eye in uncomplicated persistent hyperplastic primary vitreous in adults.

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    Awan, K J; Humayun, M

    1985-02-15

    In two adults (a 62-year-old man and a 71-year-old woman) uncomplicated full-blown unilateral persistent hyperplastic primary vitreous was diagnosed on the basis of characteristic clinical features and ultrasonography. In the contralateral uninvolved eyes, we found open-angle glaucoma, anomalous blood vessels along the entire circumference of the anterior chamber angle, band keratopathy, and heterochromia iridis. The axial length of one involved eye was about 0.85 mm larger than that of the uninvolved eye.

  3. Severe hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous.

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    Shahriari, Mahdi; Bazrafshan, Asghar; Moghadam, Mohamad; Karimi, Mehran

    2016-04-01

    A 6-month-old girl was referred by an ophthalmologist because of postoperative bleeding. She was scheduled for operation because of persistent hyperplastic primary vitreous. Workups were done and prolonged partial thromboplastin time with normal platelet count, normal bleeding time, and prothrombin time were detected. There was negative family history of bleeding tendency in both maternal and paternal family, so at the first step, Factor XI assay was requested which was normal. Then, von Willebrand factor and factor VIII were assayed which was 127% and less than 1%, respectively. Severe factor VIII deficiency was not suspected in a girl unless in siblings of a hemophilic patient who gets married with her carrier cousin. Chromosomal study and genetic testing were requested and mosaic Turner syndrome (45 XO) with ring X (p22, 2q13) along with inversion 22 (hemizygote) was detected. Abdominal and pelvic sonography showed absence of both ovaries with presence of infantile uterus. Maternal genetic study was in favor of carrier of hemophilia (heterozygote inversion 22). To the best of our knowledge, this is the first case of association of Turner syndrome with severe hemophilia A and persistent hyperplastic primary vitreous.

  4. Unilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation.

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    Yusuf, Imran H; Patel, Chetan Kantibhai; Salmon, John F

    2015-01-06

    Persistent hyperplastic primary vitreous (PHPV) is an ocular developmental disorder resulting from incomplete apoptosis of the embryonic hyaloid vasculature. Unilateral PHPV is traditionally associated with a poor prognosis because of the challenges associated with managing progressive anisometropic amblyopia. We report a child with unilateral PHPV who underwent cataract extraction, primary posterior capsulotomy with anterior vitrectomy and intraocular lens implantation followed by combined trabeculectomy/trabeculotomy within the first 8 weeks of life. Intensive optometric and orthoptic input was required for many years to manage the increasing anisometropic amblyopia with final visual acuity of 20/40 unaided in the affected eye and without evidence of glaucomatous optic neuropathy. This case illustrates the excellent visual outcome possible in a child with complex, unilateral PHPV using an intensive management approach comprising: early surgical intervention for congenital cataract and secondary glaucoma, meticulous monitoring of refraction, visual acuity and intraocular pressure and motivated parents who engaged in the management. 2015 BMJ Publishing Group Ltd.

  5. Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous.

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    Sinha, Rajesh; Bali, Shveta Jindal; Kumar, Chandrashekhar; Shekhar, Himanshu; Sharma, Namrata; Titiyal, Jeewan S; Vajpayee, Rasik B

    2013-01-01

    To report the feasibility and outcome of lens aspiration, and Fugo blade-assisted capsulotomy and anterior vitrectomy in eyes with anterior persistent hyperplastic primary vitreous (PHPV). In this case series, 10 eyes of 10 patients with anterior PHPV underwent lens aspiration. The vascularized posterior capsule was cut with a Fugo blade (plasma knife) and removed with a vitrector. A foldable posterior chamber intraocular lens (IOL) was implanted in eight eyes and the outcomes were evaluated. The mean age of patients was 16.8 ± 6.37 months (range: 5 to 28 months). The surgery was completed successfully in all eyes. There were no cases of intraocular hemorrhage intraoperatively. Foldable acrylic IOL was implanted in the bag in 3 eyes and in the sulcus in 5 eyes. Two eyes were microphthalmic and did no undergo IOL implantation (aphakic). None of the eyes had a significant reaction or elevated intraocular pressure postoperatively. The follow-up ranged from 4 to 21 months. All the pseudophakic eyes achieved a best corrected visual acuity of ≥20/200 with 50% (4/8) of these eyes with ≥20/60 vision. Lens aspiration followed by posterior capsulotomy with Fugo blade-assisted plasma ablation is a feasible technique for performing successful lens surgery in cases with florid anterior PHPV.

  6. Results of cataract surgery and plasma ablation posterior capsulotomy in anterior persistent hyperplastic primary vitreous

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    Rajesh Sinha

    2013-01-01

    Full Text Available Purpose: To report the feasibility and outcome of lens aspiration, and Fugo blade-assisted capsulotomy and anterior vitrectomy in eyes with anterior persistent hyperplastic primary vitreous (PHPV. Materials and Methods: In this case series, 10 eyes of 10 patients with anterior PHPV underwent lens aspiration. The vascularized posterior capsule was cut with a Fugo blade (plasma knife and removed with a vitrector. A foldable posterior chamber intraocular lens (IOL was implanted in eight eyes and the outcomes were evaluated. Results: The mean age of patients was 16.8 ± 6.37 months (range: 5 to 28 months. The surgery was completed successfully in all eyes. There were no cases of intraocular hemorrhage intraoperatively. Foldable acrylic IOL was implanted in the bag in 3 eyes and in the sulcus in 5 eyes. Two eyes were microphthalmic and did no undergo IOL implantation (aphakic. None of the eyes had a significant reaction or elevated intraocular pressure postoperatively. The follow-up ranged from 4 to 21 months. All the pseudophakic eyes achieved a best corrected visual acuity of ≥20/200 with 50% (4/8 of these eyes with ≥20/60 vision. Conclusion: Lens aspiration followed by posterior capsulotomy with Fugo blade-assisted plasma ablation is a feasible technique for performing successful lens surgery in cases with florid anterior PHPV.

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

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    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)

  8. Clinical analysis of persistent hyperplastic primary vitreous%永存原始玻璃体增生症的临床分析

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    谭凤玲; 吕勇; 杨琳; 吕建

    2011-01-01

    Objective To investigate visual acuity outcomes and their influencing factors in patients with persistent hyperplastic primary vitreous (PHPV) treated with operation or non-operative treatment. Methods Clinical data of 23 cases (25 eyes) with PHPV in our hospital from January 2007 to December 2009 were analyzed. There were 20 eyes with vitreous or lens resection, and 5 eyes without operation. Clinical significance , visual outcomes and postoperative complications were observed. Results B ultrasound showed mushroom echo from optic disc in 25 eyes; Color ultrasound showed continuous blood flow in streak echo shadow of vitreous body and strengthening from optic disc to lens. In patients with operation,postoperative corrected visual acuity came to effective vision in 14 eyes, of which were 1 eye with microphthalmia and 13 eyes with normal ocular axis(ρ = 0.014) ;There were 3 eyes with retinal detachment,fold and dys-plasia and 11 eyes without these pathological changes(ρ= 0.018). There was 1 eye with chronic hypotension and vitreous hemorrhage in patients with operation. At following up time, best corrected visual acuity of none came to effective in patients without operative treatment. Conclusions Operation can improve visual acuity and prevent complication for PHPV patients. Prognosis is poor for patients without operative treatment. Visual prognosis has relation with microphthalmia,retinal detachment,fold and dysplasia.%目的 探讨永存原始玻璃体增生症(persistent hyperplastic primary vitreous,PHPV)经过手术或非手术治疗的视力预后及影响因素.方法 回顾性分析我院2007年1月至2009年12月23例(25眼)PHPV患者的临床资料,20眼行玻璃体或晶状体切除手术,5眼未手术.术后随访1.0~2.5 a,观察临床特征、视力预后及术后并发症等情况.结果 B超检查示25眼均有从视盘发出的蘑菇状回声;彩超示玻璃体內条索状回声影內有连续血流,由视盘向晶状体后延伸.手术组术后

  9. Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene

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    Mary-Sinclair, Michelle N.; Wang, XiaoFei; Swanson, Douglas J.; Sung, Caroline Y.; Mendonca, Eneida A.; Wroblewski, Kristen; Baumer, Shannon H.; Goldowitz, Dan; Jablonski, Monica M.

    2014-01-01

    Purpose Persistent hyperplastic primary vitreous (PHPV) represents a developmental eye disease known to have diverse manifestations ranging from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. PHPV can be modeled in mice lacking individual genes, but certain features of such models differ from the clinical realm. For example, mice lacking the Arf gene have uniformly severe disease with consistent autosomal recessive disease penetrance. We tested whether the graded somatic loss of Arf in a subset of cells in chimeric mice mimics the range of disease in a non-heritable manner. Methods Wild type ↔ Arf −/− mouse chimeras were generated by morulae fusion, and when the mice were 10 weeks old, fundoscopic, slit-lamp, and histological evaluations were performed. The relative fraction of cells of the Arf −/− lineage was assessed with visual, molecular genetic, and histological analysis. Objective quantification of various aspects of the phenotype was correlated with the genotype. Results Sixteen chimeras were generated and shown to have low, medium, and high contributions of Arf −/− cells to tail DNA, the cornea, and the retinal pigment epithelium (RPE), with excellent correlation between chimerism in the tail DNA and the RPE. Phenotypic differences (coat color and severity of eye disease) were evident, objectively quantified, and found to correlate with the contribution of Arf −/− cells to the RPE and tail-derived DNA, but not the cornea. Conclusions Generating animals composed of different numbers of Arf −/− cells mimicked the range of disease severity observed in patients with PHPV. This establishes the potential for full manifestations of PHPV to be caused by somatic mutations of a single gene during development. PMID:24623965

  10. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

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    Bardakjian, Tanya M; Kwok, Simon; Slavotinek, Anne M; Schneider, Adele S

    2010-12-01

    Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. We present a 13-year-old boy with microphthalmia and multiple anomalies who was evaluated as part of our research into the etiology of microphthalmia. His clinical features included left microphthalmia, persistent hyperplastic primary vitreous and posterior coloboma, right posterior pole coloboma, pectus excavatum, mild hypotonia, mild delays in speech and motor development, and an anxiety disorder with social difficulties. Investigations with a chromosome microarray revealed a de novo deletion of chromosome 16p11.2 of approximately 882 kb in size. Deletions of this region of chromosome 16p11.2 are a newly delineated microdeletion syndrome, but this is the first report of microphthalmia and coloboma associated with monosomy for 16p11.2, and emphasizes the clinical variability that can be present with this deletion. This report contributes to the growing knowledge regarding this microdeletion and suggests that rare copy number changes may be a cause of microphthalmia and other eye anomalies.

  11. Bilateral microphthalmia and aphakia associated with multiple eye abnormalities in a free-living European red deer calf (Cervus elaphus).

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    Mutinelli, Franco; Vercelli, Antonella; Carminato, Antonio; Luchesa, Lucio; Pasolli, Claudio; Cova, Mariapia; Marchioro, Wendy; Melchiotti, Erica; Vascellari, Marta

    2012-04-01

    A free-living European red deer calf (Cervus elaphus) was euthanized due to bilateral microphthalmia. Lens was missing, replaced by proliferating squamous epithelial cells; hyperplastic squamous cells, sebaceous and mucinous glands were observed within the cornea with the characteristics of inclusion cyst. Findings were consistent with congenital microphthalmia/aphakia, with multiple eye abnormalities.

  12. Anophthalmia and microphthalmia

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    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

  13. 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

  14. [SOX2 defect and anophthalmia and microphthalmia].

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    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.

  15. 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.

  16. A case of Lenz microphthalmia syndrome.

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    Ozkinay, F F; Ozkinay, C; Yüksel, H; Yenigun, A; Sapmaz, G; Aksu, O

    1997-07-01

    Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles. The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.

  17. Surgical and prosthetic treatment for microphthalmia syndromes.

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    Wavreille, O; François Fiquet, C; Abdelwahab, O; Laumonier, E; Wolber, A; Guerreschi, P; Pellerin, P

    2013-03-01

    Our aim was to evaluate the long-term outcomes of prosthetic treatment and orbital expansion in the management of microphthalmia syndromes. We did a retrospective single-centre study of all cases of microphthalmia treated between 1989 and 2010. The patients were divided into three groups: isolated microphthalmia, microphthalmia associated with micro-orbitism, and complex microphthalmia syndrome. To evaluate the results a score was computed for each patient by assessing the length of the palpebral fissure, the depth of the conjunctival fornix, and local complications together with an evaluation of the satisfaction of patients and their families. Forty-four children were included (27 boys and 17 girls). Twenty-seven had unilateral microphthalmia (61%) and 17 bilateral microphthalmia (39%). Twelve patients were lost to follow up. The mean duration of follow-up was 12 years (range 4-21). Management involved an ocular conformer in only 31 patients (71%). The treatment was deemed satisfactory in all except 10 children. Surgical treatment with orbital expansion permitted good symmetry of the orbital cavities with a final mean difference of 9% (range 3-17) compared with the initial 16.8% (range 13.6-20.3). The prosthetic treatment gives satisfactory results. Despite limited indications and difficult follow-up, our experience emphasises the value of surgical treatment for severe micro-orbitism.

  18. 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

  19. [Cycloferon in therapy of hyperplastic laryngitis for decrease of the number of relapses].

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    Grigorian, S S; Romantsov, M G; Demchenko, E V; Kovalenko, A L

    2013-01-01

    The article describes the clinical forms of chronic hyperplastic laryngitis, characterized by persistent and recurrent course, a tendency to the formation of oncological pathology, at the expense of hyperplastic changes in the larynx, leading to a malignancy of the inflammatory process. It was demonstrated the bacterization of larynx by Epstein-Barr virus (EBV) and Mycoplasma in imbalance of system of interferon. Clinical recovery, depending on the clinical form of the disease, using cycloferon, was observed in 57.4% of patients. The inclusion in the complex of the medical support of chronic hyperplastic laryngitis inducer of interferon - cycloferon, provided the reduction of the number of relapses.

  20. Appendiceal Hyperplastic Polyp: Case Report

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    Faten Limaiem

    2015-02-01

    Full Text Available Serrated lesions morphologically analogous to those seen in the colorectum are found in the appendix. Appendiceal hyperplastic polyps are very rare, and their true incidence is unknown. A 52-year-old male previously healthy patient with no particular past medical history, presented with a 24-h history of abdominal pain localized to the right lower quadrant. On physical examination, he was tender to palpation in the lower right quadrant. As acute appendicitis was highly suspected, laparoscopic appendectomy was performed. Histological examination of the surgical specimen showed acute inflammation of the appendiceal wall. The crypts were focally elongated but relatively straight with serrations that were visible mainly near the luminal end of the crypts. Columnar cells with or without apical mucous vacuoles alternated with large goblet cells. The crypt bases were not serrated and were lined by regular cells with small nuclei. The muscularis mucosa was intact. The postoperative course was uneventful, and the patient was discharged on postoperative day 1. The final pathological diagnosis was acute appendicitis associated with hyperplastic polyp. Hyperplastic lesions of the appendix are often incidental findings although they can be associated with acute appendicitis. They are significantly associated with adenocarcinoma elsewhere in the large intestine and the finding of mucosal hyperplasia in an appendectomy is an indication for further investigations to exclude colorectal neoplasia. [J Interdiscipl Histopathol 2015; 3(1.000: 36-38

  1. Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.

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    Okumus, N; Zenciroglu, A; Demirel, N; Bas, A Y; Ceylaner, S

    2008-01-01

    Lenz microphthalmia syndrome was first described by Lenz et al. in 1955 (9). The cardinal features of the syndrome are microphthalmia or anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, dental and genitourinary anomalies. Here we present a case of Lenz microphthalmia syndrome that shows the typical characteristics and, additionally, macrophallus, a broad chest with widely spaced nipples, wide gap between first and second toes, which are unusual manifestations in Lenz Microphthalmia Syndrome.

  2. Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation

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    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. Early retinoic acid deprivation in developing zebrafish results in microphthalmia.

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    Le, Hong-Gam T; Dowling, John E; Cameron, D Joshua

    2012-09-01

    Vitamin A deficiency causes impaired vision and blindness in millions of children around the world. Previous studies in zebrafish have demonstrated that retinoic acid (RA), the acid form of vitamin A, plays a vital role in early eye development. The objective of this study was to describe the effects of early RA deficiency by treating zebrafish with diethylaminobenzaldehyde (DEAB), a potent inhibitor of the enzyme retinaldehyde dehydrogenase (RALDH) that converts retinal to RA. Zebrafish embryos were treated for 2 h beginning at 9 h postfertilization. Gross morphology and retinal development were examined at regular intervals for 5 days after treatment. The optokinetic reflex (OKR) test, visual background adaptation (VBA) test, and the electroretinogram (ERG) were performed to assess visual function and behavior. Early treatment of zebrafish embryos with 100 μM DEAB (9 h) resulted in reduced eye size, and this microphthalmia persisted through larval development. Retinal histology revealed that DEAB eyes had significant developmental abnormalities but had relatively normal retinal lamination by 5.5 days postfertilization. However, the fish showed neither an OKR nor a VBA response. Further, the retina did not respond to light as measured by the ERG. We conclude that early deficiency of RA during eye development causes microphthalmia as well as other visual defects, and that timing of the RA deficiency is critical to the developmental outcome.

  4. Microphthalmia with linear skin defects syndrome.

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    García-Rabasco, Ana; De-Unamuno, Blanca; Martínez, Francisco; Febrer-Bosch, Isabel; Alegre-de-Miquel, Víctor

    2013-01-01

    Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.

  5. 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.

  6. A Case with Microphthalmia and Multiple Congenital Anomalies

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    Ayça Sarı

    2013-12-01

    Full Text Available We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital dysplasia, oculofaciocardiodental syndrome, and Lenz microphthalmia syndrome. Our patient’s clinical features also involved microcephaly, cleft palate, developmental delay, digital and urogenital anomalies, cardiac septal defects and hearing loss, which diagnosis is mostly consistent with the Lenz microphthalmia syndrome. Lenz microphthalmia syndrome is a very rare conditions and their expressions are more often in countries with high rates of consanguineous marriages. Hence, recognizing such rare syndromes in patients with multiple congenital anomalies is essential. (Turk J Ophthalmol 2013; 43: 468-70

  7. Mutations in ALDH1A3 cause microphthalmia.

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    Aldahmesh, M A; Khan, A O; Hijazi, H; Alkuraya, F S

    2013-08-01

    Microphthalmia is an important inborn error of eye development that can be associated with multisystem involvement. Anophthalmia is more severe and rarer. Single mutations in an expanding list of genes are known to cause this spectrum of anomaly. In one branch of a multiplex family with microphthalmia and anophthalmia, autozygome analysis excluded all known microphthalmia genes at the time of doing this study. Exome sequencing and autozygome filtration identified a novel homozygous variant in ALDH1A3. Subsequently, we identified another homozygous variant in 2 of the 10 probands with microphthalmia we specifically screened for mutations in ALDH1A3. Interestingly, the other branch of the original family was found to segregate anophthalmia/syndactyly with a novel homozygous SMOC1 variant. Our data support the very recent and independent identification of ALDH1A3 as a disease gene in microphthalmia. Locus heterogeneity should be considered in consanguineous families even for extremely rare phenotypes.

  8. 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.

  9. Hyperplastic conditions of the mandibular condyles

    Energy Technology Data Exchange (ETDEWEB)

    Nah, Kyung Soo [Pusan National University College of Medicine, Busan (Korea, Republic of)

    2003-12-15

    To evaluate the clinical and radiographic features of unilateral hyperplastic mandibular condyles for some useful preliminary diagnostic recommendations. Clinical records, radiographs and histologic diagnoses of 35 cases with asymmetric mandibular condyles due to apparent unilateral condylar hyperplasia were evaluated retrospectively. Among 35 cases, 28 were true hyperplastic conditions of condyles whereas the remaining 7 were unilateral internal derangement occurring on the short side. 17 of the 28 hyperplastic condyles showed a mass or irregular radiographic shadow with histologic diagnosis including osteochondroma and osteoma. Only 5 of these cases showed facial asymmetry. 2 out of ths 17 cases showed hyperplastic round shaped irregular condyles consistent with ankylosis and their histologic diagnoses were osteochondromas. 11 of the 28 cases showed smooth enlargement of condylar head with elongation of the neck causing facial asymmetry, but histologic diagnoses were not available because the surgical operation conserved the condyles. The hyperplastic conditions of the mandibular condyles include not only true hyperplasia, osteochondroma, osteoma, and ankylosis, but also unilateral internal derangement occurring on the short side.

  10. FOXE3 plays a significant role in autosomal recessive microphthalmia.

    Science.gov (United States)

    Reis, Linda M; Tyler, Rebecca C; Schneider, Adele; Bardakjian, Tanya; Stoler, Joan M; Melancon, Serge B; Semina, Elena V

    2010-03-01

    FOXE3 forkhead transcription factor is essential to lens development in vertebrates. The eyes of Foxe3/foxe3-deficient mice and zebrafish fail to develop normally. In humans, autosomal dominant and recessive mutations in FOXE3 have been associated with variable phenotypes including anterior segment anomalies, cataract, and microphthalmia. We undertook sequencing of FOXE3 in 116 probands with a spectrum of ocular defects ranging from anterior segment dysgenesis and cataract to anophthalmia/microphthalmia. Recessive mutations in FOXE3 were found in four of 26 probands affected with bilateral microphthalmia (15% of all bilateral microphthalmia and 100% of consanguineous families with this phenotype). FOXE3-positive microphthalmia was accompanied by aphakia and/or corneal defects; no other associated systemic anomalies were observed in FOXE3-positive families. The previously reported c.720C > A (p.C240X) nonsense mutation was identified in two additional families in our sample and therefore appears to be recurrent, now reported in three independent microphthalmia families of varied ethnic backgrounds. Several missense variants were identified at varying frequencies in patient and control groups with some apparently being race-specific, which underscores the importance of utilizing race/ethnicity-matched control populations in evaluating the relevance of genetic screening results. In conclusion, FOXE3 mutations represent an important cause of nonsyndromic autosomal recessive bilateral microphthalmia.

  11. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

    Science.gov (United States)

    Ng, David; Hadley, Donald W; Tifft, Cynthia J; Biesecker, Leslie G

    2002-07-15

    Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum LOD score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders.

  12. Epithelial cell identity in hyperplastic precursors of breast cancer

    Institute of Scientific and Technical Information of China (English)

    Danila Coradini; Patrizia Boracchi; Saro Oriana; Elia Biganzoli; Federico Ambrogi

    2015-01-01

    Introduction:In the adult human breast, hyperplastic enlarged lobular unit (HELU) and atypical ductal hyperplasia (ADH) are two common abnormalities that frequently coexist with ductal carcinoma in situ (DCIS). For this reason, they have been proposed as the early steps in a biological continuum toward breast cancer. Methods:We investigated in silico the expression of 369 genes experimentally recognized as involved in establishing and maintaining epithelial cell identity and mammary gland remodeling, in HELUs or ADHs with respect to the corresponding patient-matched normal tissue. Results:Despite the common luminal origin, HELUs and ADHs proved to be characterized by distinct gene profiles that overlap for 5 genes only. While HELUs were associated with the overexpression of progesterone receptor (PGR), ADHs were characterized by the overexpression of estrogen receptor 1 (ESR1) coupled with the overexpression of some proliferation-associated genes. Conclusions:This unexpected finding contradicts the notion that in differentiated luminal cells the expression of estrogen receptor (ER) is dissociated from cell proliferation and suggests that the establishing of an ER-dependent signaling is able to sustain cell proliferation in an autocrine manner as an early event in tumor initiation. Although clinical evidence indicates that only a fraction of HELUs and ADHs evolve to invasive cancer, present findings warn that exposure to synthetic progestins, frequently administered as hormone-replacement therapy, and estrogens, when abnormally produced by adipose cells and persistently present in the stroma surrounding the mammary gland, may cause these hyperplastic lesions.

  13. Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

    Science.gov (United States)

    Temtamy, S A; Ismail, S I; Meguid, N A

    2000-01-01

    Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia. In rare cases affected patients exhibit complete absence of eye or blepharoptosis resulting in visual impairment. Additional physical abnormalities are often associated with this disorder, orofacial, digital, skeletal and urogenital abnormalities. Here we present three cases of Lenz microphthalmia with additional manifestations: two brothers of first cousin mating, the elder one has bilateral congenital cataract which is a rare ophthalmological finding in this syndrome and a third case who presented to us because of ambiguous genitalia. She was 12 years old, and reared as a female. Chromosomal analysis showed 46,XY karyotype, and hormonal studies indicated 5-alpha reductase deficiency. This is the first report of the association of 5-alpha reductase deficiency with Lenz microphthalmia syndrome.

  14. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    Science.gov (United States)

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  15. Giant Hyperplastic Polyp in the Stomach

    Directory of Open Access Journals (Sweden)

    Fazilet Uğur DUMAN

    2010-09-01

    Full Text Available Hyperplastic polyps, which account for nearly 75% of all gastric polyps, are generally small (<1 cm, single, sessile, polyps and located in antrum. They are usually asymptomatic. A 77-year-old man was admitted to hospital due to severe fatigue as a consequence of irondeficiency anemia. The upper gastrointestinal endoscopy which was done to discover an etiological factor revealed a papillomatous mass 6 cm in diameter that had a malignant endoscopic appearance. Numerous macroscopic sections were taken since larger gastric polyps (especially those greater than 2 cm in diameter have a greater risk of malignancy development. No dysplasia was detected on histological and immunohistochemical evaluation and it was therefore diagnosed as a giant hyperplastic polyp in the stomach. The large size of the polyp in the presented case led us to emphasize the importance of searching for dysplasia in such cases.

  16. Problems in outpatients with laryngeal hyperplastic lesions.

    Science.gov (United States)

    Goldman, N C

    1997-01-01

    The care of outpatients with epithelial hyperplastic lesions of the larynx presents problems of classification, treatment, continued surveillance and prognosis. One hundred patients who underwent microlaryngoscopy and vocal cord stripping from 1990 through 1995 were studied retrospectively with a follow-up period of 8-156 months. Twenty-eight patients with biopsy proven epithelial hyperplastic lesions were given 21 different pathological diagnoses exclusive of invasive carcinoma following 52 operative microlaryngoscopies. Prognosis was inferred and treatment commenced primarily on the basis of the pathology report. Microlaryngoscopy and stripping with and without the carbon dioxide laser, "watchful waiting," radiation therapy, and partial laryngectomy were all used as treatment modalities. Controversy remains as of choice of treatment. Encouraging the patient to discontinue smoking is an integral part of treatment; however, most patients continue to smoke. Recent changes in the United States health care delivery system present additional problems in surveillance of the patient.

  17. 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...

  18. Exclusive gene mapping of congenital microphthalmia in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    YIN Yanan; LI Hui; YU Ping; ZHOU Qiang; ZHAO Luhang; ZHANG Ya-Ping

    2006-01-01

    Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development.To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia, we performed genescan and linkage analysis in this family. Fourteen microsatellite markers on chromosomes 3, 11, 14 and 15 were selected as genetic markers according to the five previously reported loci associated with microphthalmia (MITF, SOX2, PAX6, MCOP and NN02). The genomic DNA of each member in the pedigree was amplified with 14 pairs of fluorescence labeled primers. Genome screening and genotyping were conducted on ABI377 DNA sequencer and linkage analysis was performed with Linkage software package. All two-point LOD scores of linkage analysis between the suggested disease genes and microsatellite markers were <-2, which indicated that none of the five genes were responsible for microphthalmia in this Chinese family. Microphthalmia in this family may be caused by mutation in a new gene which is essential in eye development.

  19. SHORT REPORT SHO SHO Persistent hyperplastic primary vitreous ...

    African Journals Online (AJOL)

    SA JOURNAL OF RADIOLOGY • December 2006. SHO. 24 ... radiologist to reach the proper conclusions with resultant benefits in .... Pairs digital-quality MR, CT, and ... brents@hmpg.co.za rology for Psychiatrists, 6th edition. To Ord. Health.

  20. Lenz microphthalmia syndrome with dental anomalies: a case report.

    Science.gov (United States)

    Ersin, Nazan Kocatas; Tugsel, Zuhal; Gökce, Bülent; Ozpinar, Birgül; Eronat, Nesrin

    2003-01-01

    This report describes the dental management and 7-year follow-up of a 14-year-old boy who showed the typical characteristics of Lenz microphthalmia syndrome, a rare genetic disorder characterized by multiple abnormalities. The main features of the syndrome are microphthalmia, developmental retardation, ear abnormalities, microcephaly, skeletal, digital and urogenital anomalies. The dental anomalies include micrognathia, hypodontia, agenesis of permanent teeth, conic-shaped incisors, and taurodontic molars. The purpose of the report was to document specific oral manifestations and dental anomalies and their management associated with a previously reported case.

  1. Persistence

    Science.gov (United States)

    Moore, John W.

    1998-11-01

    Eudora Welty, the famous writer, was once asked what should be done by society or government to encourage young writers. Her response, which surprised the questioner, and me when I heard it, was "Nothing". Welty contended that a person who was really a writer would be persistent enough to overcome whatever obstacles were in the way, needing no interference or support from others.

  2. Acute Gastric Bleeding Due to Giant Hyperplastic Polyp

    Directory of Open Access Journals (Sweden)

    Bulent Aksel

    2013-04-01

    Full Text Available Hyperplastic gastric polyps account for the majority of benign gastric polyps. The vast majority of these lesions are small, asymptomatic and found incidentally on radiologic or endoscopic examination. Giant hyperplastic gastric polyps are uncommon and most of them are asymptomatic. We report a case of a 66-year-old woman who admitted because of acute gastric bleeding. The gastrin levels were within normal ranges. Esophagogastroduodenoscopy showed 12 cm pedunculated and multiple lobulated hyperplastic polyps arising from antrum with signs of diffuse oozing. The patient is treated by subtotal gastrectomy with Roux-Y gastrojejunostomy. Histological examination showed the presence of ulcers and regeneration findings with the contemporary occurrence of hyperplastic polyp. Giant hyperplastic gastric polyp should be kept in mind in the differential diagnosis of acute upper gastrointestinal bleeding.

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

    DEFF Research Database (Denmark)

    Roos, Laura; Jensen, Hanne; 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...

  4. 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.

  5. Clinical features and hyperplastic patterns of parathyroid glands in hemodialysis patients with advanced secondary hyperparathyroidism refractory to maxacalcitol treatment and required parathyroidectomy.

    Science.gov (United States)

    Tominaga, Yoshihiro; Matsuoka, Susumu; Sato, Tetsuhiko; Uno, Nobuyuki; Goto, Norihiko; Katayama, Akio; Haba, Toshihito

    2007-08-01

    We have previously suggested that when parathyroid glands progress to nodular hyperplasia, secondary hyperparathyroidism (2HPT) may be refractory to medical treatments, including treatment with Maxacalcitol (OCT). In the present study we evaluated the clinical features and hyperplastic patterns of parathyroid glands in patients who underwent parathyroidectomy (PTx) after being withdrawn from OCT. One hundred and eighty-seven advanced 2HPT patients who had been withdrawn from OCT and required PTx were enrolled. At the start of OCT treatment, the patients had a mean age of 55.3 years and had been receiving hemodialysis (HD) for a mean period of 149 months. At the start of OCT treatment and at PTx, the mean intact PTH (i-PTH) levels were 772.8 +/- 446.0 and 855.5 +/- 420.5 pg/mL, respectively. The main reasons for withdrawal of OCT treatment were persistently high PTH (n = 148), hypercalcemia (n = 79), hyperphosphatemia (n = 65), and progressive symptoms (n = 60). We classified the parathyroid glands by hyperplastic pattern into four categories: diffuse hyperplastic gland (D), early nodularity in diffuse hyperplastic gland (EN), nodular hyperplastic gland (N), and single nodular gland (SN). The mean total excised gland weight was 2592.6 mg. Out of a total of 706 glands, 118 were classified as D, 66 as EN, 436 as N, and 86 as SN. All patients had at least one nodular hyperplastic gland or single nodular gland. The mean number of nodular hyperplastic glands and/or single nodular glands was 2.9. All hemodialysis patients with advanced OCT-refractory 2HPT who underwent PTx had at least one nodular hyperplastic gland or single nodular gland.

  6. 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)

  7. 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.).

  8. 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.

  9. Lipoma of the Colon with Overlying Hyperplastic Epithelium

    Directory of Open Access Journals (Sweden)

    Jasim M Radhi

    1997-01-01

    Full Text Available Lipomas of the colon are submucosal nonepithelial tumours covered by intact or eroded mucosa. A large colonic lipoma present in close proximity to an area of diverticulitis is presented. The lining mucosa in this case exhibited hyperplastic changes, reminiscent of those seen in hyperplastic polyps. The significance of such mucosal changes are highlighted because adenomatous or even carcinomatous transformation, though rare, remains possible.

  10. Quantitative pathology of laryngeal epithelial hyperplastic lesions.

    Science.gov (United States)

    Cör, A; Gale, N; Kambic, V

    1997-01-01

    We studied 40 laryngeal biopsies samples in order to ascertain the reliability of light microscopical criteria for subdividing laryngeal epithelial hyperplastic lesions (EHL) and carcinoma in situ as well as to determine the relationship between proliferative activity of their epithelial cells and the histological grade. The biopsies were divided into four groups in accordance with the Kambic-Lenart classification: simple, abnormal and atypical hyperplasia and carcinoma in situ. 10 cases in each group were included. The morphometrical analysis was carried out by a semiautomatic image analysis system. The proliferative activity was determined by the high percentage of cell nuclear antigen (PCNA) and Ki-67 positive epithelial cells and with counting nucleolar organizer regions (Ag-NORs) per nucleus. Our results suggest that measuring the nuclear area of the basal cells. augmented with basaloid cells and carcinomatous cells, is the most useful morphometrical method of differentiating three types of laryngeal EHL and carcinoma in situ, while the proliferative activity progressively increased with the degree of epithelial hyperplasia. Morphometrical methods and proliferative activity should be regarded as useful in conjunction with the traditional histopathological methods allowing more of objective grading of EHL.

  11. 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

  12. The discovery of the microphthalmia locus and its gene, Mitf.

    Science.gov (United States)

    Arnheiter, Heinz

    2010-12-01

    The history of the discovery of the microphthalmia locus and its gene, now called Mitf, is a testament to the triumph of serendipity. Although the first microphthalmia mutation was discovered among the descendants of a mouse that was irradiated for the purpose of mutagenesis, the mutation most likely was not radiation induced but occurred spontaneously in one of the parents of a later breeding. Although Mitf might eventually have been identified by other molecular genetic techniques, it was first cloned from a chance transgene insertion at the microphthalmia locus. And although Mitf was found to encode a member of a well-known transcription factor family, its analysis might still be in its infancy had Mitf not turned out to be of crucial importance for the physiology and pathology of many distinct organs, including eye, ear, immune system, bone, and skin, and in particular for melanoma. In fact, near seven decades of Mitf research have led to many insights about development, function, degeneration, and malignancies of a number of specific cell types, and it is hoped that these insights will one day lead to therapies benefitting those afflicted with diseases originating in these cell types.

  13. Reactive Hyperplastic Lesions of the Oral Cavity

    Directory of Open Access Journals (Sweden)

    Hamideh Kadeh

    2015-03-01

    Full Text Available Introduction: Peripheral reactive lesions of soft tissue are common oral lesions that dentists face during routine examinations. Diagnosis and development of a treatment plan is difficult if dentists are not aware of the prevalence and clinical symptoms of these lesions. The frequency of these lesions differs across various populations. The aim of this study was to determine the frequency and distribution of oral reactive lesions over a period of 7 years (2006–2012.   Materials and Methods: In this retrospective study, available records from the archives of the Department of Pathology, Dental School and the two main hospitals in southeast of Iran (Zahedan over a period of 7 years (2006–2012 were reviewed. Information relating to the type of reactive lesion, age, gender and location was extracted and recorded on data forms. Data were analyzed using SPSS statistical software (V.18 using the chi-square and Fisher’s exact test.   Results: Of 451 oral lesions, 91 cases (20.2% were reactive hyperplastic lesions. The most common lesions were pyogenic granuloma and irritation fibroma, respectively. These lesions were more frequent in women (60% than men (40%. The most common locations of involvement were the gingiva and alveolar mucosa of the mandible, and lesions were more common in the 21–40-year age group. The relationship between age group and reactive lesions was statistically significant (P=0.01.   Conclusion:  The major findings in this study are broadly similar to the results of previous studies, with differences observed in some cases. However, knowledge of the frequency and distribution of these lesions is beneficial when establishing a diagnosis and treatment plan in clinical practice.

  14. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

    Science.gov (United States)

    Choi, Alex; Lao, Richard; Ling-Fung Tang, Paul; Wan, Eunice; Mayer, Wasima; Bardakjian, Tanya; Shaw, Gary M; Kwok, Pui-Yan; Schneider, Adele; Slavotinek, Anne

    2015-03-01

    We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sclerocornea, microphthalmia, hypotonia and developmental delays. Sanger sequencing verified two Peroxidasin (PXDN) mutations in both sibs--a maternally inherited, nonsense mutation, c.1021C>T predicting p.(Arg341*), and a paternally inherited, 23-basepair deletion causing a frameshift and premature protein truncation, c.2375_2397del23, predicting p.(Leu792Hisfs*67). We re-examined exome data from 20 other patients with structural eye defects and identified two additional PXDN mutations in a sporadic male with bilateral microphthalmia, cataracts and anterior segment dysgenesis--a maternally inherited, frameshift mutation, c.1192delT, predicting p.(Tyr398Thrfs*40) and a paternally inherited, missense substitution that was predicted to be deleterious, c.947 A>C, predicting p.(Gln316Pro). Mutations in PXDN were previously reported in three families with congenital cataracts, microcornea, sclerocornea and developmental glaucoma. The gene is expressed in corneal epithelium and is secreted into the extracellular matrix. Defective peroxidasin has been shown to impair sulfilimine bond formation in collagen IV, a constituent of the basement membrane, implying that the eye defects result because of loss of basement membrane integrity in the developing eye. Our finding of a broader phenotype than previously appreciated for PXDN mutations is typical for exome-sequencing studies, which have proven to be highly effective for mutation detection in patients with atypical presentations. We conclude that PXDN sequencing should be considered in microphthalmia with anterior segment dysgenesis.

  15. Congenital systematized basaloid follicular hamartoma with microphthalmia and hemimegalencephaly.

    Science.gov (United States)

    Boccaletti, Valeria; Accorsi, Patrizia; Pinelli, Lorenzo; Ungari, Marco; Giordano, Lucio; Neri, Iria; De Panfilis, Giuseppe

    2011-01-01

    The lines of Blaschko are a cutaneous pattern of mosaicism present in a variety of skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are sometimes associated. Here, we describe a 5-year-old boy with basaloid follicular hamartoma affecting the left side of the body in linear multiple bands, following Blaschko lines. Lesions were predominantly hypopigmented macules and streaks, but among these, we could observe brownish atrophic patches and brown papules. Furthermore, ipsilateral hemimegaloencephaly and microphthalmia were present. These findings suggest a neurocutaneous condition recently described by Happle and Tinschert. Its nosologic classification will be discussed. © 2010 Wiley Periodicals, Inc.

  16. 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.

  17. 永存原始玻璃体增生症的临床表现及晶状体后纤维血管膜的病理学特征%Clinical manifestations and pathological characteristics of retrolental membranes secondary to persistent hyperplastic primary vitreous

    Institute of Scientific and Technical Information of China (English)

    张岩; 林锦镛

    2016-01-01

    Background Persistent hyperplastic primary vitreous (PHPV) is a congenital eye disease of children,because its clinical manifestations are nonspecific,it is easy to be misdiagnosed as congenital cataract and the prognosis is poor.There has been more researches on PHPV clinical characteristics than its histopathological feature and immunochemistry.Objective This study was to investigate the clinical characteristics of PHPV and the pathological characteristics of retrolental membranes secondary to PHPV.Methods The clinical data of 6 PHPV eyes from 6 patients during May 2005 to December 2014 were retrospectively analyzed.All the PHPV eyes received a combinating procedure of cataract extraction and anterior vitrectomy.The retrolental membranes were collected during surgery for the histopathological examination by hematoxylin & eosin staining and periodic acid-Schiff (PAS)staining.Immunochemistry was used to detect the expression of Vimentin,smooth muscle actin (SMA),S-100,glial fibrillary acidic protein (GFAP),neuron specific enolase (NSE),epithelial membrane antigen (EMA),CD34 and proliferating cell nuclear antigen (PCNA) in the retrolental membranes.Results Monocular PHPV was found in 6 cases since born,with the main clinical manifestation of similar to congenital cataract.The ocular axial was shorter in 5 PHPV eyes than that of the contralateral eye by A-sonography,and 1 eye accompanied by eye nystagmus,strabismus and small cornea.The retrolental membranes were seen during the surgery in all cases,and the white band through the vitreous in 2 eyes.Pathological examination showed that the retrolental membrane was mainly composed of loose or myxoid connective tissue fibers,the capillaries and small veins.PAS positive tissue,residual transparent artery and differentiated adipocytes were exhibited in some specimens.Immunohistochemistry indicated that spindle-shape cells in the retrolental membranes presented the characteristics of mesenchymal cells,and some cells

  18. 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

    2013-02-01

    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.

  19. 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.

  20. Endoscopic banding ligation can effectively resect hyperplastic Polyps of stomach

    Institute of Scientific and Technical Information of China (English)

    Ching-Chu Lo; Wen-Chi Chen; E-Ming Wang; Kwok-Hung Lai; Ping-I Hsu; Gin-Ho Lo; Hui-Hwa Tseng; Hui-Chun Chen; Ping-Ning Hsu; Chiun-Ku Lin; Hoi-Hung Chan; Wei-Lun Tsai

    2003-01-01

    AIM: Bleeding and perforation are the major and serious complications associated with endoscopic polypectomy. To develop a safe and effective method to resect hyperplastic polyps of the stomach, we employed rubber bands to strangulate hyperplastic polyps and to determine the possibility of inducing avascular necrosis in these lesions.METHODS: Forty-seven patients with 72 hyperplastic polyps were treated with endoscopic banding ligation (EBL). On 14 days after endoscopic ligation, follow-up endoscopies were performed to assess the outcomes of the strangulated polyps.RESULTS: After being strangulated by the rubber bands,all of the polyps immediately became congested (100 %),and then developed cyanotic changes (100 %) approximately 4 minutes later. On follow-up endoscopy 2 weeks later, all the polyps except one had dropped off. The only one residual polyp shrank with a rubber band in its base, and it also dropped off spontaneously during subsequent follow-up.No complications occurred during or following the ligation procedures.CONCLUSION: Gastric polyps develop avascular necrosis following ligation by rubber bands. Employing suction equipment, EBL can easily capture sessile polyps. It is an easy, safe and effective method to eradicate hyperplastic polyps of the stomach.

  1. Are gastric hyperplastic polyps an additional manifestation in celiac disease?

    Science.gov (United States)

    Dore, Maria Pina; Pes, Giovanni Mario; Rocchi, Chiara; Loria, Maria Francesca; Soro, Sara; Bassotti, Gabrio

    2017-01-01

    Abstract Gastric polyps are frequently reported in patients undergoing upper endoscopic procedures. In this retrospective study, the association between hyperplastic polyps and celiac disease in Northern Sardinia was estimated. Age, gender, body mass index, and medications taken in the 2 preceding months, including proton-pump inhibitors (PPIs), H2 receptor blockers (anti-H2), Helicobacter pylori status, endoscopic findings, and histology from charts of patients undergoing esophago-gastro-duodenoscopy were reviewed. Polyps were classified as hyperplastic, fundic gland, inflammatory, and adenomatous. 3.7% (423/11379) patients had celiac disease. Prevalence of gastric polyps was 4.2% (3.8% among celiac vs 4.2% nonceliac patients). Inflammatory polyp was the most common histotype (55.8% and 56.2%) followed by fundic gland polyps (31.4% and 43.7%), hyperplastic (8.7% and 0%), and adenomas, in celiac and nonceliac patients, respectively. Fundic gland polyps were more common in PPI users (odds ratio: 4.06) than in nonusers (2.65, P = 0.001) among celiac and nonceliac patients. Age older than 50, female gender, esophago-gastro-duodenoscopy year, and PPI use were associated with the presence of polyps, whereas active H pylori infection was not. Gastric polyps were common in Sardinian patients undergoing esophago-gastro-duodenoscopy. However, the previously reported association between hyperplastic polyps and celiac disease was not confirmed in our study. PMID:28151870

  2. Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6.

    Science.gov (United States)

    Becerra-Solano, Luis E; Chacón, Liliana; Morales-Mata, Dinorah; Zenteno, Juan C; Ramírez-Dueñas, Maria L; García-Ortiz, Jose E

    2016-01-01

    The association of anophthalmia, arrhinia, and hypogonadism constitutes the major clinical features for Bosma arrhinia microphthalmia syndrome. However, there is variability in the presentation of this disease; arrhinia is the most constant clinical feature, which is then combined with a spectrum of anophthalmia/microphthalmia and/or hypogonadism. This rare entity is not associated with any specific genes, but the genes that are related to arrhinia and anophthalmia have been studied in an attempt to explain this phenomenon. We analyzed the PAX6 gene in a Bosma arrhinia microphthalmia syndrome patient but found no variation or mutation that could constitute or establish a causal association in our patient.

  3. 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.

  4. Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.

    Science.gov (United States)

    Almeida, Hiram Larangeira de; Rossi, Gabriela; Abreu, Luciana Boff de; Bergamaschi, Cristina; Silva, Alessandra Banaszeski da; Kutsche, Kerstin

    2014-01-01

    The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified. Dermatoscopic examination showed erythematous linear areas with telangectasias and absence of sebaceous glands, which appear as brilliant white dots. Vellus hairs were also absent in the red areas. Dermatoscopy could help to establish the diagnosis of MLS/MIDAS syndrome by confirming the aplastic nature of the lesions.

  5. 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.

  6. 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.

  7. Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.

    Science.gov (United States)

    Xiao, Xueshan; Li, Shiqiang; Zhang, Qingjiong

    2012-06-01

    Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before. Here we report a Chinese family with these phenotypes and a novel PAX6 mutation. Microphthalmia, late-onset keratitis, iris coloboma, and nystagmus were present in the proband. His son had microphthalmia, aniridia, foveal hypoplasia, and nystagmus. A novel c.649C>T (p.Arg217X) mutation in PAX6 was detected in the proband and his affected son. This study expands the phenotypic spectrum of PAX6 mutation and enriched our knowledge of the genetic cause for microphthalmia and late-onset keratitis.

  8. 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.

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

    Science.gov (United States)

    Chao, Ryan; Nevin, Linda; Agarwal, Pooja; Riemer, Jan; Bai, Xiaoyang; Delaney, Allen; Akana, Matthew; JimenezLopez, Nelson; Bardakjian, Tanya; Schneider, Adele; Chassaing, Nicolas; Schorderet, Daniel F; FitzPatrick, David; Kwok, Pui-yan; Ellgaard, Lars; Gould, Douglas B; Zhang, Yan; Malicki, Jarema; Baier, Herwig; Slavotinek, Anne

    2010-05-11

    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.

  10. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

    Science.gov (United States)

    Ng, David; Thakker, Nalin; Corcoran, Connie M; Donnai, Dian; Perveen, Rahat; Schneider, Adele; Hadley, Donald W; Tifft, Cynthia; Zhang, Liqun; Wilkie, Andrew O M; van der Smagt, Jasper J; Gorlin, Robert J; Burgess, Shawn M; Bardwell, Vivian J; Black, Graeme C M; Biesecker, Leslie G

    2004-04-01

    Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and other anomalies. Two loci associated with this syndrome, MAA (microphthalmia with associated anomalies) and MAA2, are situated respectively at Xq27-q28 (refs. 1,2) and Xp11.4-p21.2 (ref. 3). We identified a substitution, nt 254C-->T; P85L, in BCOR (encoding BCL-6-interacting corepressor, BCOR) in affected males from the family with Lenz syndrome previously used to identify the MAA2 locus. Oculofaciocardiodental syndrome (OFCD; OMIM 300166) is inherited in an X-linked dominant pattern with presumed male lethality and comprises microphthalmia, congenital cataracts, radiculomegaly, and cardiac and digital abnormalities. Given their phenotypic overlap, we proposed that OFCD and MAA2-associated Lenz microphthalmia were allelic, and we found different frameshift, deletion and nonsense mutations in BCOR in seven families affected with OFCD. Like wild-type BCOR, BCOR P85L and an OFCD-mutant form of BCOR can interact with BCL-6 and efficiently repress transcription. This indicates that these syndromes are likely to result from defects in alternative functions of BCOR, such as interactions with transcriptional partners other than BCL-6. We cloned the zebrafish (Danio rerio) ortholog of BCOR and found that knock-down of this ortholog caused developmental perturbations of the eye, skeleton and central nervous system consistent with the human syndromes, confirming that BCOR is a key transcriptional regulator during early embryogenesis.

  11. An unusual expression of hyperplastic gastropathy (Menetrier type) in twins.

    Science.gov (United States)

    Ibarrola, Carolina; Rodriguez-Pinilla, Maria; Valiño, Cristina; Gomez-Casado, Eduardo; Garcia de la Torre, Juan Pablo; Rodriguez-Cuellar, E; Abad, Alfredo; Colina, Francisco

    2003-04-01

    Menetrier's disease is an uncommon condition of unknown aetiology. We describe two cases of male identical twins with haematemesis aged 29 and 35 years that exhibited a similar and particular form of this hyperplastic gastropathy. Their stomachs showed confluent polypoid mucosal projections affecting mainly the gastric fundus and the antrum. To the best of our knowledge, only four previous cases have been reported in a familial setting, and this is the first documented example of an occurrence in twins. These two cases suggest the possibility of a genetic predisposition for this condition.

  12. 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

    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...

  13. Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

    Science.gov (United States)

    Zahrani, Fatema; Aldahmesh, Mohammed A; Alshammari, Muneera J; Al-Hazzaa, Selwa A F; Alkuraya, Fowzan S

    2013-03-01

    Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a minority of cases. We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. In a simplex case with a similar phenotype, we identified compound heterozygosity for the same mutation and another missense mutation [c.152T>A; p.Leu51Gln]. Little is known about C12orf57 but we show that it is expressed in several mouse tissues, including the eye and brain. Our data strongly implicate mutations in C12orf57 in the pathogenesis of a clinically distinct autosomal-recessive syndromic form of colobomatous microphthalmia.

  14. Hyperplasticity effect under magnetic pulse straightening of dual phase steel

    Science.gov (United States)

    Falaleev, AP; Meshkov, VV; Shymchenko, A.

    2016-10-01

    An investigation of the behaviour of dual phase steel parts during straightening operations, by means of magnetic pulse treatment, is presented. The mechanical analysis of magnetic-pulse treatment for the straightening of thin-walled sheet metal parts produced from dual phase steel was performed, taking into account the effect of hyperplasticity under the influence of the magnetic field. Taking account of the causes of the hyperplasticity and thus the increase of material plasticity, it has been shown that the magnetic impulse gravity can be adjusted by controlling the operation modes. The dependence of the generated magnetic impulse gravity force on the electrical current strength inducted in this part was explored and used for analysis of the magnetic pulse straightening of dual phase steel part. Experimental results were obtained for thin-walled sheet metal part produced from dual phase steel DP 780. The results are used to demonstrate the material deformation under the influence of magnetic impulse gravity force considering the increase of material plasticity. The dependence of relative material deformation on the generated magnetic impulse gravity as well as on the current strength induced in this material was obtained and analyzed

  15. 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.

  16. 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.

  17. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

    Science.gov (United States)

    Horn, Denise; Chyrek, Magdalena; Kleier, Saskia; Lüttgen, Sabine; Bolz, Hanno; Hinkel, Georg-Klaus; Korenke, Georg Christoph; Riess, Angelika; Schell-Apacik, Can; Tinschert, Sigrid; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Kutsche, Kerstin

    2005-05-01

    Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant condition with male lethality characterized by microphthalmia, congenital cataracts, facial dysmorphic features, congenital heart defects, and dental anomalies. Mutations in BCOR (BCL6 co-repressor) located in Xp11.4 have been described to cause OFCD syndrome. Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising microphthalmia/anophthalmia, mental retardation, malformed ears, digital, skeletal, and urogenital anomalies (synonym: microphthalmia with associated anomalies (MAA)). One locus for MAA has been mapped to Xq27-q28. Nonetheless, linkage and subsequent mutation analysis revealed a single missense mutation (p.P85L) in BCOR in a large family with presumed Lenz microphthalmia syndrome (MAA2). We describe novel mutations in BCOR in three patients with OFCD syndrome, two small deletions (c.2488_2489delAG and c.3286delG) and a submicroscopic deletion of about 60 kb encompassing at least BCOR exons 2-15. No BCOR mutation was detected in eight patients with Lenz microphthalmia syndrome. Our data confirm that BCOR is the causative gene for OFCD syndrome; however, the failure to identify any mutation in patients with Lenz microphthalmia syndrome together with the oligosymptomatic phenotype in the reported MAA2 patients suggest that BCOR is not the major gene for this syndrome.

  18. Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14.

    Science.gov (United States)

    Li, Hui; Wang, Jia-Xin; Wang, Cheng-Ye; Yu, Ping; Zhou, Qiang; Chen, Yong-Gang; Zhao, Lu-Hang; Zhang, Ya-Ping

    2008-01-01

    Microphthalmia is a clinically and genetically heterogeneous disorder of eye development. The genetic basis of nonsyndromic microphthalmia is not yet fully understood. Previous studies indicated that disease pedigrees from different genetic backgrounds could be attributed to completely different gene loci. To investigate the etiology in a large autosomal-dominant inherited simple microphthalmia (nanophthalmia) pedigree, which is the first genetically analyzed Chinese microphthalmia pedigree, we performed a whole-genome scan using 382 micro-satellite DNA markers after the exclusion of reported candidates associated with microphthalmia. Strong evidence indicated that microphthalmia in this family was mapped to an unreported new locus on chromosome 2q. A significantly positive two-point LOD score was obtained with a maximum 3.290 at a recombination fraction of 0.00 for marker D2S2265. Subsequent haplotype analysis and recombination data further confined the disease-causing gene to a 15-cM interval between D2S1890 and D2S347 on 2q11-14. Our results further underlined the degree of heterogeneity in microphthalmia from Chinese background and localized a novel gene which regulates eye embryogenesis.

  19. 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.

  20. [Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer].

    Science.gov (United States)

    Navarro, Matilde; González, Sara; Iglesias, Silvia; Capellá, Gabriel; Rodríguez-Moranta, Francisco; Blanco, Ignacio

    2013-07-21

    Hyperplastic polyposis syndrome (HPS) is an uncommon disorder characterized by hyperplastic polyps (HP) occasionally associated with serrated adenomas (SA) or mixed polyps (MP) and defined by clinical criteria (OMS/Cleveland). HPS is heterogeneous regarding the number and size of polyps, and it is associated with colorectal cáncer (CRC) and a family history. Its genetic basis is unknow. We describe individuals with HPS criteria from a series of families assessed in our Unit of Genetic Advice for colonic polyposis. Our objective is to identify the clinical characteristics of this syndrome. Retrospective study of 197 families with colonic polyposis (1998-2011), identifying patients with HPS criteria. To know the number of polyps, we took into account polypectomies and/or the histologic study of surgical samples. Polyps were classified into adenomas, serrated lesiones (HP and SA) and MP. Genetic studies revealed: microsatellite instability (MSI), MUTYH gene variants (p.Tyr165Cys, p.Gly382Asp and p.Glu396GlyfsX43) and APC gene. Eighteen individuals, with a median age of 51.1 years, had criteria of HPS (11M/7F). Number of HP varied between 14 and 100 coexisting with classical adenomas, SA and MP in 14 individuals (77.8%). Localization of polyps: ascending and descending colon in 13 individuals (72.2%) and only descending colon in 5 (27.8%). A CRC was detected in 10/18 (55.6%) patients, and 3 of them had a double CRC, a family history in 3 patients (16.7%) and a history of HPS in one. IMS was not detected in 8 CRC nor in 3 adenomas studied; we detected 2/13 heterozygous mutations in the MUTYH gene (p.Gly382Asp) and one variant with an unknown biological significance in the APC gene (p.Ser926Pro). The phenotypic variability of HPS difficults its identification, hence it is important to adhere to the clinical criteria established for its classification as well as to establish screening guidelines for CRC on the basis of its high incidence. Copyright © 2012 Elsevier Espa

  1. INSL-3 is expressed in human hyperplastic and neoplastic thyrocytes.

    Science.gov (United States)

    Hombach-Klonisch, Sabine; Hoang-Vu, Cuong; Kehlen, Astrid; Hinze, Raoul; Holzhausen, Hans-Jürgen; Weber, Ekkehard; Fischer, Bernd; Dralle, Henning; Klonisch, Thomas

    2003-05-01

    The insulin-like hormone INSL-3, also named relaxin-like factor (RLF) or Leydig-derived insulin-like peptide (LEY-IL), is expressed in various reproductive tissues and is regarded a marker of differentiation in human testicular Leydig cells. Recently, we have identified differential expression of human INSL-3 in neoplastic Leydig cells and mammary epithelial cells suggesting an involvement of INSL-3 in tumor biology. Here we have investigated the expression of INSL-3 in human thyroid carcinoma cell lines and in the human thyroid gland which has been shown to express transcripts for the G protein coupled INSL-3 receptor LGR8. When we determined the expression of INSL-3 in eight human thyroid carcinoma cell lines, a novel INSL-3 splice variant containing a 95 bp out-of-frame insertion at the beginning of exon II of the INSL-3 gene was discovered. Treatment of the human anaplastic thyroid carcinoma cell line 8505C with diethylstilbestrol (DES) caused a significant dose-dependent transcriptional down-regulation of INSL-3 and a marked up-regulation of LGR8. Employing in situ hybridization to detect INSL-3 transcripts and specific rabbit antisera against the INSL-3 proteins, both INSL-3 isoforms were detected in patients with Graves' disease (n=10), follicular carcinomas (FTC; n=12), papillary carcinomas (PTC; n=9) and undifferentiated anaplastic carcinomas (UTC; n=15). By contrast, thyrocytes of all 15 benign goiter tissues studied were devoid of both INSL-3 isoforms, mRNA and protein. Our data indicate that INSL-3 hormone is up-regulated in hyperplastic and neoplastic human thyrocytes suggesting that the INSL-3 isoforms may serve as additional markers for hyperplastic and neoplastic human thyrocytes. In the anaplastic thyroid carcinoma cell line 8505C, the regulation of both INSL-3 and LGR8 by estrogen may be the first indication of a novel hormonally responsive, auto-/paracrine INSL-3 LGR8 ligand receptor system active in human thyroid carcinoma cells.

  2. Is surveillance colonoscopy necessary for patients with sporadic gastric hyperplastic polyps?

    Directory of Open Access Journals (Sweden)

    Hailong Cao

    Full Text Available Gastric polyps, such as adenomas and hyperplastic polyps, can be found in various colonic polyposis syndromes. Unlike in sporadic gastric adenomas, in which the increased risk of colorectal neoplasia has been well characterized, information in sporadic gastric hyperplastic polyps was limited.To evaluate the association of sporadic gastric hyperplastic polyps with synchronous colorectal neoplasia in a large cohort.Patients with sporadic gastric hyperplastic polyps who underwent colonoscopy simultaneously or within six months were consecutively enrolled. Each patient was compared with two randomly selected age and sex matched controls without gastric polyps who also underwent colonoscopy in the same period. Data of patients' demographics and characteristics of the gastrointestinal polyps were documented.A total of 261 cases in 118,576 patients who underwent esophagogastroduodenoscopy were diagnosed as sporadic gastric hyperplastic polyps, and 192 of 261 (73.6% patients underwent colonoscopy. Colorectal neoplasias were identified in 46 (24.0% of 192 cases and in 40 (10.4% of 384 controls (P<0.001. The mean size and distribution of colorectal neoplasias were not significantly different between the two groups. There was a significantly higher rate of colorectal adenoma (odds ratio [OR] 3.2, 95% confidence interval [CI] 1.9-5.3 in the gastric hyperplastic polyps group than in the control group, while the prevalence of colorectal cancer was similar in the two groups. Logistic regression analysis also suggested that the presence of gastric hyperplastic polyps (OR 2.5, 95% CI 1.5-4.0 was an independent risk factor for colorectal neoplasias.The risk of colorectal adenoma increases in patients with sporadic gastric hyperplastic polyps, and surveillance colonoscopy for these patients should be considered.

  3. Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene.

    Science.gov (United States)

    Becker, Doreen; Tetens, Jens; Brunner, Adrian; Bürstel, Daniela; Ganter, Martin; Kijas, James; Drögemüller, Cord

    2010-01-13

    Microphthalmia in sheep is an autosomal recessive inherited congenital anomaly found within the Texel breed. It is characterized by extremely small or absent eyes and affected lambs are absolutely blind. For the first time, we use a genome-wide ovine SNP array for positional cloning of a Mendelian trait in sheep. Genotyping 23 cases and 23 controls using Illumina's OvineSNP50 BeadChip allowed us to localize the causative mutation for microphthalmia to a 2.4 Mb interval on sheep chromosome 22 by association and homozygosity mapping. The PITX3 gene is located within this interval and encodes a homeodomain-containing transcription factor involved in vertebrate lens formation. An abnormal development of the lens vesicle was shown to be the primary event in ovine microphthalmia. Therefore, we considered PITX3 a positional and functional candidate gene. An ovine BAC clone was sequenced, and after full-length cDNA cloning the PITX3 gene was annotated. Here we show that the ovine microphthalmia phenotype is perfectly associated with a missense mutation (c.338G>C, p.R113P) in the evolutionary conserved homeodomain of PITX3. Selection against this candidate causative mutation can now be used to eliminate microphthalmia from Texel sheep in production systems. Furthermore, the identification of a naturally occurring PITX3 mutation offers the opportunity to use the Texel as a genetically characterized large animal model for human microphthalmia.

  4. Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3 gene.

    Directory of Open Access Journals (Sweden)

    Doreen Becker

    Full Text Available Microphthalmia in sheep is an autosomal recessive inherited congenital anomaly found within the Texel breed. It is characterized by extremely small or absent eyes and affected lambs are absolutely blind. For the first time, we use a genome-wide ovine SNP array for positional cloning of a Mendelian trait in sheep. Genotyping 23 cases and 23 controls using Illumina's OvineSNP50 BeadChip allowed us to localize the causative mutation for microphthalmia to a 2.4 Mb interval on sheep chromosome 22 by association and homozygosity mapping. The PITX3 gene is located within this interval and encodes a homeodomain-containing transcription factor involved in vertebrate lens formation. An abnormal development of the lens vesicle was shown to be the primary event in ovine microphthalmia. Therefore, we considered PITX3 a positional and functional candidate gene. An ovine BAC clone was sequenced, and after full-length cDNA cloning the PITX3 gene was annotated. Here we show that the ovine microphthalmia phenotype is perfectly associated with a missense mutation (c.338G>C, p.R113P in the evolutionary conserved homeodomain of PITX3. Selection against this candidate causative mutation can now be used to eliminate microphthalmia from Texel sheep in production systems. Furthermore, the identification of a naturally occurring PITX3 mutation offers the opportunity to use the Texel as a genetically characterized large animal model for human microphthalmia.

  5. Oral pyogenic granuloma: one reactive hyperplastic lesion of the gingiva

    Directory of Open Access Journals (Sweden)

    Suryakanta Narendra

    2015-12-01

    Full Text Available The term pyogenic granuloma refers to a disorder of the skin, oral mucosa and the gingiva, that usually presents as a solitary polypoid capillary hemangioma like growth often resulting from local irritation and trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. Different terminologies are used for this lesion by different investigators like, benign vascular tumor of pregnancy, granuloma pediculatum benignum, granuloma pyogenicum, Crocker and hartzells disease. This lesion even if looks like a tumor, is non neoplastic in nature and present itself in various clinical and histological forms. Lack of association of pyogenic etiopathogenesis does not justify the use of terminology of pyogenic granuloma. In this article we are presenting a case series of pyogenic granuloma in different locations giving an insight into their myriad of etiologies and presenting the review of literature for its inclusion as one classified hyperplastic lesion of oral cavity. [Int J Res Med Sci 2015; 3(12.000: 3863-3868

  6. Hyperplastic-like colon polyps that preceded microsatellite-unstable adenocarcinomas.

    Science.gov (United States)

    Goldstein, Neal S; Bhanot, Punam; Odish, Eva; Hunter, Susan

    2003-06-01

    We compared hyperplastic-like polyps that preceded microsatellite-unstable adenocarcinomas to incidental hyperplastic polyps to identify distinguishing morphologic criteria. The study group included 106 hyperplastic-like, nonadenomatous, serrated polyps, most from the ascending colon in 91 patients; the control group included 106 rectosigmoid hyperplastic polyps from 106 patients in whom adenocarcinoma did not develop. Study group polyps had an expanded crypt proliferative zone, a serrated architectural outline that became apparent in the basilar crypt regions, basilar crypt dilation, inverted crypts, and a predominance of dysmaturational crypts (crypts with minimal cell maturation). In contrast, control group polyps had a proliferative zone confined to the basal crypt region, serrated architecture that became apparent in the superficial crypt region, rare to no basilar crypt dilation, and rare or no dysmaturational crypts. Hyperplastic-like polyps that preceded microsatellite-unstable adenocarcinomas had a distinctive constellation of morphologic features related to altered and decreased cell function and control that resulted in dysmaturational crypts. Dysmaturation constitutes a range of morphologic alterations, some of which overlap with incidental-type innocuous hyperplastic polyps. The morphologic features described herein provide initial guidelines to identify this potentially important subset of premalignant serrated-like polyps.

  7. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

    Science.gov (United States)

    Tassabehji, M; Newton, V E; Read, A P

    1994-11-01

    Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene.

  8. Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.

    Science.gov (United States)

    Zhu, Xin; Dai, Fu-Rong; Wang, Jian; Zhang, Yu; Tan, Zhi-Ping; Zhang, Yi

    2015-10-15

    Lenz microphthalmia syndrome and oculo-facio-cardio-dental syndrome (OFCD) are allelic X-linked syndromes and similarly characterized by ocular, distinctive facial morphology, cardiac, dental malformations and intellectual disability. We report a seven-month-old boy with congenital glaucoma, complex cardiac defect, dextrocardia and cerebral white matter hypoplasia suggestive of Lenz microphthalmia/OFCD syndrome. Molecular testing revealed a novel missense mutation (c.G1619A; p.R540Q) in BCOR. This boy might be the third male patient with a BCOR mutation based on literature search. Previously, Xenopus studies showed that BCOR is required for vertebrate laterality determination. Our finding provides additional support that the manifestations of defective lateral patterning and dextrocardia are associated with Lenz microphthalamia/OFCD syndrome.

  9. Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

    OpenAIRE

    2012-01-01

    Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS), which encodes a crucial player of the mitochondrial respiratory chain (MRC). Unlike other mitochondrial diseases, MLS is characterized by a well-recognizable neurodevelopmental phenotype. Interestingly, not all clinically diagnosed MLS cases have mutations in HCCS, thus suggesting genetic heterogeneity for this disorder. Among the possi...

  10. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

    Science.gov (United States)

    Srour, Myriam; Chitayat, David; Caron, Véronique; Chassaing, Nicolas; Bitoun, Pierre; Patry, Lysanne; Cordier, Marie-Pierre; Capo-Chichi, José-Mario; Francannet, Christine; Calvas, Patrick; Ragge, Nicola; Dobrzeniecka, Sylvia; Hamdan, Fadi F; Rouleau, Guy A; Tremblay, André; Michaud, Jacques L

    2013-10-01

    Anophthalmia and/or microphthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac defects are the main features of PDAC syndrome. Recessive mutations in STRA6, encoding a membrane receptor for the retinol-binding protein, have been identified in some cases with PDAC syndrome, although many cases have remained unexplained. Using whole-exome sequencing, we found that two PDAC-syndrome-affected siblings, but not their unaffected sibling, were compound heterozygous for nonsense (c.355C>T [p.Arg119(∗)]) and frameshift (c.1201_1202insCT [p.Ile403Serfs(∗)15]) mutations in retinoic acid receptor beta (RARB). Transfection studies showed that p.Arg119(∗) and p.Ile403Serfs(∗)15 altered RARB had no transcriptional activity in response to ligands, confirming that the mutations induced a loss of function. We then sequenced RARB in 15 subjects with anophthalmia and/or microphthalmia and at least one other feature of PDAC syndrome. Surprisingly, three unrelated subjects with microphthalmia and diaphragmatic hernia showed de novo missense mutations affecting the same codon; two of the subjects had the c.1159C>T (Arg387Cys) mutation, whereas the other one carried the c.1159C>A (p.Arg387Ser) mutation. We found that compared to the wild-type receptor, p.Arg387Ser and p.Arg387Cys altered RARB induced a 2- to 3-fold increase in transcriptional activity in response to retinoic acid ligands, suggesting a gain-of-function mechanism. Our study thus suggests that both recessive and dominant mutations in RARB cause anophthalmia and/or microphthalmia and diaphragmatic hernia, providing further evidence of the crucial role of the retinoic acid pathway during eye development and organogenesis.

  11. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

    Science.gov (United States)

    Hilton, Emma; Johnston, Jennifer; Whalen, Sandra; Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Nishio, Juntaro; Kohara, Hiroshi; Hirano, Yoshiko; Mizuno, Seiji; Torii, Chiharu; Kosaki, Kenjiro; Manouvrier, Sylvie; Boute, Odile; Perveen, Rahat; Law, Caroline; Moore, Anthony; Fitzpatrick, David; Lemke, Johannes; Fellmann, Florence; Debray, François-Guillaume; Dastot-Le-Moal, Florence; Gerard, Marion; Martin, Josiane; Bitoun, Pierre; Goossens, Michel; Verloes, Alain; Schinzel, Albert; Bartholdi, Deborah; Bardakjian, Tanya; Hay, Beverly; Jenny, Kim; Johnston, Kathreen; Lyons, Michael; Belmont, John W; Biesecker, Leslie G; Giurgea, Irina; Black, Graeme

    2009-10-01

    Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects.

  12. Reinterpretation of histology of proximal colon polyps called hyperplastic in 2001

    Institute of Scientific and Technical Information of China (English)

    Omer Khalid; Sofyan Radaideh; Oscar W Cummings; Michael J O'Brien; John R Goldblum; Douglas K Rex

    2009-01-01

    AIM: To evaluate how proximal colon polyps interpreted as hyperplastic polyps in 2001 would be interpreted by expert pathologists in 2007. METHODS: Forty consecutive proximal colon polyps ≥ 5 mm in size, removed in 2001, and originally interpreted as hyperplastic polyps by general pathologists at Indiana University, were reviewed in 2007 by 3 GI pathologists. RESULTS: The gastrointestinal (GI) pathologists interpreted 85%, 43% and 30% of the polyps as sessile serrated polyps (sessile serrated adenomas). The overall Kappa was 0.16. When diagnoses were compared in pairs, Kappa values were 0.38 and 0.25 (fair agreement) and 0.14 (slight agreement). CONCLUSION: Many polyps interpreted as hyperplastic in 2001 were considered sessile serrated lesions by GI pathologists in 2007, but there is substantial inter-observer variation amongst GI pathologists.

  13. Extrathyroidal Implantation of Thyroid Hyperplastic/neoplastic Cells after Endoscopic Thyroid Surgery

    Institute of Scientific and Technical Information of China (English)

    Cao Xi; Xie-qun Xu; Tao Hong; Bing-lu Li; Wei Liu

    2014-01-01

    Objective To report a case of the implantation of thyroid hyperplastic or neoplastic tissue after endoscopic thyroidectomy and discuss this complication in aspects of prevalence, pathogenesis, protection, and therapies. Methods A systematic search of literature from the PubMed database was conducted for identifying eligible studies on implantation of thyroid hyperplastic or neoplastic cells after endoscopic thyroid surgery. Results Overall, 5 reported cases on patients suffering from endoscopic thyroid surgery with implantation of thyroid hyperplastic or neoplastic cells were included in the systematic review. Conclusions Unskilled surgeons, rough intraoperative surgical treatment, scarification or rupture of tumor, contamination of instruments, chimney effect, aerosolization of tumor cells may be associated with the implantation after endoscopic thyroidectomy. To minimize the risk of such complication, we should be more meticulous and strict the endoscopic surgery indications.

  14. A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1

    NARCIS (Netherlands)

    Hmani-Aifa, Mounira; Ben Salem, Salma; Benzina, Zeineb; Bouassida, Walid; Messaoud, Riadh; Turki, Khalil; Khairallah, Moncef; Rebai, Ahmed; Fakhfekh, Faiza; Soderkvist, Peter; Ayadi, Hammadi

    2009-01-01

    Posterior microphthalmia (PM) is a relatively rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in high hyperopia and retinal folding. It is an uncommon subtype of microphthalmia that has been mostly reported to coexist with several other ophthalmi

  15. Development and prevention of morphologic and ultrastructural changes in uremia-induced hyperplastic parathyroid gland.

    Science.gov (United States)

    Shiizaki, Kazuhiro; Hatamura, Ikuji; Mato, Masao; Nakazawa, Eiko; Saji, Fumie; Onishi, Akira; Ogura, Manabu; Watanabe, Yuko; Kusano, Eiji

    2011-10-01

    The detailed ultrastructural changes of uremia-induced hyperplastic parathyroid gland and the effects of current medical treatments for secondary hyperparathyroidism were investigated. Marked enlargement of parathyroid cell with accumulation of mitochondria and lipids and a significant increase in the thickness of the pericapillary area with increased fibrosis and appearance of fibroblast like cells were noted in the hyperplastic gland caused by uremia and phosphate retention. These ultrastructural changes and biochemical findings indicating hyperparathyroidism were significantly suppressed by all of the treatment using phosphate restriction, calcitriol, and cinacalcet. The characteristic ultrastructural changes, including the morphologic evidence of nodule formation, were indicated.

  16. Polipose hiperplásica: relato de caso Hyperplastic polyposis: case report

    Directory of Open Access Journals (Sweden)

    Fabiano de Oliveira Poswar

    2010-09-01

    Full Text Available A polipose hiperplásica é uma condição rara, caracterizada pela presença de pólipos hiperplásicos múltiplos no cólon. Relata-se o caso de um paciente de 29 anos que apresentou polipose hiperplásica associada a pólipos mistos.Hyperplastic polyposis is a rare condition, characterized by the presence of multiple hiperplastic polyps in the colon. It is reported a case of a 29-year-old patient who presented hyperplastic polyposis associated with mixed polyps.

  17. Gastric inverted hyperplastic polyp: A rare cause of iron deficiency anemia

    Science.gov (United States)

    Yun, Jin Tak; Lee, Seung Woo; Kim, Dong Pil; Choi, Seung Hwa; Kim, Seok-Hwan; Park, Jun Kyu; Jang, Sun Hee; Park, Yun Jung; Sung, Ye Gyu; Sul, Hae Jung

    2016-01-01

    Gastric inverted hyperplastic polyp (IHP) is a rare gastric polyp characterized by the downward growth of hyperplastic mucosal components into the submucosal layer. Macroscopically, a gastric IHP resembles a subepithelial tumor (SET); as a result, accurately diagnosing gastric IHP is difficult. This issue has clinical significance because gastric IHP can be misdiagnosed as SET or as malignant neoplasm In addition, adenocarcinoma can accompany benign gastric IHP. Although in most cases, gastric IHPs are asymptomatic and are found incidentally, these polyps may cause anemia secondary to chronic bleeding. Here, we report one case involving gastric IHP accompanied by chronic iron deficiency anemia that was successfully managed using endoscopic submucosal dissection. PMID:27099452

  18. Kissing molars and hyperplastic dental follicles: report of a case and literature review.

    Science.gov (United States)

    Kiran, Heggavadipura Yogendraswamy; Bharani, K S N Shiva; Kamath, Rajay Agnel; Manimangalath, Girisankar; Madhushankar, G S

    2014-01-01

    "Kissing" molars are impacted permanent molars that have occlusal surfaces contacting each other in a single follicular space, with roots pointing in opposite directions. It is deemed to be appropriate to medically investigate mucopolysaccharidosis (MPS) in patients presenting with kissing molars as kissing molars have been linked with MPS. The case of bilateral occurrence of kissing molars in an 18-year-old woman is described. Pathological analysis of the follicular tissue suggested hyperplastic dental follicles. Therefore, this case report analysed the association of impacted permanent teeth with hyperplastic dental follicles, following the review of seven documented reports describing such association.

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

    NARCIS (Netherlands)

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

    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 tho

  20. Prevalence and incidence of hyperplastic polyps and adenomas in familial colorectal cancer: correlation between the two types of colon polyps

    OpenAIRE

    Liljegren, A.; Lindblom, A; Rotstein, S; Nilsson, B; Rubio, C; Jaramillo, E

    2003-01-01

    Background and aims: Colorectal adenomas are recognised as precursors of colorectal carcinomas. The significance of hyperplastic (metaplastic) colorectal polyps is unknown. The relationship between hyperplastic polyps and adenomas, and the prevalence and incidence of these lesions were evaluated in individuals predisposed to familial colorectal cancer.

  1. 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.)

  2. 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...... 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...

  3. Gastric hyperplastic polyps causing upper gastrointestinal hemorrhage in a young adult.

    Science.gov (United States)

    Secemsky, Brian J; Robinson, Kenika R; Krishnan, Kumar; Matkowskyj, Kristina A; Jung, Barbara H

    2013-04-16

    Here, we report a case of a young man who presented with a significant upper gastrointestinal bleed treated by endoscopic removal of multiple hyperplastic polyps. Gastric hyperplastic polyps are a relatively uncommon cause of overt gastrointestinal bleeding. While most hyperplastic gastric polyps are asymptomatic, they may present with abdominal pain, iron deficiency anemia or gastric outlet obstruction. These polyps are associated with conditions such as Helicobacter pylori gastritis and atrophic autoimmune gastritis, which predispose the epithelium to chronic inflammation and epithelial repair. The patient presented to Northwestern Memorial Hospital in July 2011. The polyps were resected by clip-assisted snare polypectomy. Histopathologic assessment of the resected polyps demonstrated multiple, non-ulcerative hyperplastic polyps measuring 1.3-1.8 cm in size, without evidence of dysplasia or malignancy. This case describes a young adult patient with multiple, large gastric polyps causing overt gastrointestinal bleeding. This is a rare presentation in a young individual, as these polyps are typically identified in patients older than 60 years of age and less commonly, pediatric populations.

  4. 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.

  5. Hereditary hyperplastic gingivitis in North American farmed silver fox (Vulpes vulpes).

    Science.gov (United States)

    Clark, Jo-Anna B J; Hudson, Robert C; Marshall, H Dawn

    2015-04-01

    Hereditary hyperplastic gingivitis is a progressive growth of gingival tissues in foxes resulting in dental encapsulation. It is an autosomal recessive condition displaying a gender-biased penetrance, with an association with superior fur quality. This disease has been primarily described in European farmed foxes. Here we document its emergence in Canada.

  6. Taenia taeniaeformis: immunoperoxidase localization of metacestode culture product(s) in hyperplastic gastric mucosa.

    Science.gov (United States)

    Rikihisa, Y; Lin, Y C; Walton, A

    1986-04-01

    Rats infected with the hepatic metacestode Taenia taeniaeformis develop an extraordinary gastric hyperplasia. Indirect immunoperoxidase staining localized larval in vitro excretory secretory product specifically in the supranuclear cytoplasm of the epithelial cells lining the pits and glands in the hyperplastic gastric mucosa. The accumulation of this substance in the stomach epithelial cells may be relevant to the gastric hyperplasia induced by tapeworm infection.

  7. Multiple hyperplastic nodules in the liver with congenital absence of portal vein: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Turkbey, Baris; Karcaaltincaba, Musturay; Haliloglu, Mithat [Hacettepe University School of Medicine, Department of Radiology, Ankara (Turkey); Demir, Hulya; Yuce, Aysel [Hacettepe University School of Medicine, Department of Paediatric Gastroenterology, Ankara (Turkey); Akcoren, Zuhal [Hacettepe University School of Medicine, Department of Paediatric Pathology, Ankara (Turkey)

    2006-05-15

    We describe a 10-year-old girl with congenital absence of the portal vein (CAPV) and multiple hyperplastic nodules in the liver. MRI appearances of the liver lesions and the portocaval anastomosis between the inferior mesenteric vein and internal iliac veins are presented. In addition, the relevance of CAPV and nodular lesions of the liver is reviewed. (orig.)

  8. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

    Science.gov (United States)

    Indrieri, Alessia; van Rahden, Vanessa Alexandra; Tiranti, Valeria; Morleo, Manuela; Iaconis, Daniela; Tammaro, Roberta; D'Amato, Ilaria; Conte, Ivan; Maystadt, Isabelle; Demuth, Stephanie; Zvulunov, Alex; Kutsche, Kerstin; Zeviani, Massimo; Franco, Brunella

    2012-11-02

    Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS), which encodes a crucial player of the mitochondrial respiratory chain (MRC). Unlike other mitochondrial diseases, MLS is characterized by a well-recognizable neurodevelopmental phenotype. Interestingly, not all clinically diagnosed MLS cases have mutations in HCCS, thus suggesting genetic heterogeneity for this disorder. Among the possible candidates, we analyzed the X-linked COX7B and found deleterious de novo mutations in two simplex cases and a nonsense mutation, which segregates with the disease, in a familial case. COX7B encodes a poorly characterized structural subunit of cytochrome c oxidase (COX), the MRC complex IV. We demonstrated that COX7B is indispensable for COX assembly, COX activity, and mitochondrial respiration. Downregulation of the COX7B ortholog (cox7B) in medaka (Oryzias latipes) resulted in microcephaly and microphthalmia that recapitulated the MLS phenotype and demonstrated an essential function of complex IV activity in vertebrate CNS development. Our results indicate an evolutionary conserved role of the MRC complexes III and IV for the proper development of the CNS in vertebrates and uncover a group of mitochondrial diseases hallmarked by a developmental phenotype.

  9. Histological characterisation of the ethanol-induced microphthalmia phenotype in a chick embryo model system.

    Science.gov (United States)

    Kennelly, Kevin; Brennan, Deirdre; Chummun, Kushal; Giles, Seamus

    2011-09-01

    The eye is a sensitive indicator of the teratogenic effects of ethanol with ophthalmic defects such as microphthalmia frequently observed in FAS children. In this study, we have optimised the chick-embryo model system to investigate ethanol-induced ocular defects. Injection of 20% ethanol (125μl) directly into the yolk sac of HH-stage 7 embryos resulted in an overall 30% incidence of eye anomalies including microphthalmia. Ocular measurements showed that this treatment regime caused a significant reduction in overall globe size. Histological examination of microphthalmic specimens revealed three subgroups: (1) all ocular structures developed but were significantly retarded compared to age matched controls, (2) the bi-layered optic cup developed but with no evidence of lens induction, and (3) the optic vesicle failed to invaginate but remained as a vesicular structure comprising of a single layer of retinal pigment cells with no evidence of a neuro-retinal cell layer or lens structure. Further analysis identified clusters of apoptotic bodies in the ventral telencephalon, a region responsible for the expression of important genes in ocular specification. These results support a growing body of evidence, indicating that ethanol targets inductive signals in early eye development involving lens formation and retinal ganglion cell differentiation. The possible involvement of Shh, Fgf8, Bmp4 and Pax6 is discussed in relation to these outcomes.

  10. Meis1 coordinates a network of genes implicated in eye development and microphthalmia.

    Science.gov (United States)

    Marcos, Séverine; González-Lázaro, Monica; Beccari, Leonardo; Carramolino, Laura; Martin-Bermejo, Maria Jesus; Amarie, Oana; Mateos-San Martín, Daniel; Torroja, Carlos; Bogdanović, Ozren; Doohan, Roisin; Puk, Oliver; Hrabě de Angelis, Martin; Graw, Jochen; Gomez-Skarmeta, Jose Luis; Casares, Fernando; Torres, Miguel; Bovolenta, Paola

    2015-09-01

    Microphthalmos is a rare congenital anomaly characterized by reduced eye size and visual deficits of variable degree. Sporadic and hereditary microphthalmos have been associated with heterozygous mutations in genes fundamental for eye development. Yet, many cases are idiopathic or await the identification of molecular causes. Here we show that haploinsufficiency of Meis1, which encodes a transcription factor with evolutionarily conserved expression in the embryonic trunk, brain and sensory organs, including the eye, causes microphthalmic traits and visual impairment in adult mice. By combining analysis of Meis1 loss-of-function and conditional Meis1 functional rescue with ChIP-seq and RNA-seq approaches we show that, in contrast to its preferential association with Hox-Pbx BSs in the trunk, Meis1 binds to Hox/Pbx-independent sites during optic cup development. In the eye primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by regulating genes responsible for human microphthalmia and components of the Notch signaling pathway. In addition, Meis1 is required for eye patterning by controlling a set of eye territory-specific transcription factors, so that in Meis1(-/-) embryos boundaries among the different eye territories are shifted or blurred. We propose that Meis1 is at the core of a genetic network implicated in eye patterning/microphthalmia, and represents an additional candidate for syndromic cases of these ocular malformations.

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

    Science.gov (United States)

    Roos, L; Fang, M; Dali, C; Jensen, H; Christoffersen, N; Wu, B; Zhang, J; Xu, R; Harris, P; Xu, X; Grønskov, K; Tümer, Z

    2014-09-01

    Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed 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.

  12. 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.

  13. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

    Science.gov (United States)

    Forrester, S; Kovach, M J; Reynolds, N M; Urban, R; Kimonis, V

    2001-01-01

    Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.

  14. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

    Science.gov (United States)

    Brady, Paul D; Van Esch, Hilde; Fieremans, Nathalie; Froyen, Guy; Slavotinek, Anne; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris R

    2015-04-01

    Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range.

  15. 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

  16. [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.

  17. 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

  18. Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.

    Directory of Open Access Journals (Sweden)

    Chun-Hong Xia

    Full Text Available The mouse semi-dominant Nm2249 mutation displays variable cataracts in heterozygous mice and smaller lenses with severe cataracts in homozygous mice. This mutation is caused by a Gja8(R205G point mutation in the second extracellular loop of the Cx50 (or α8 connexin protein. Immunohistological data reveal that Cx50-R205G mutant proteins and endogenous wild-type Cx46 (or α3 connexin proteins form diffuse tiny spots rather than typical punctate signals of normal gap junctions in the lens. The level of phosphorylated Cx46 proteins is decreased in Gja8(R205G/R205G mutant lenses. Genetic analysis reveals that the Cx50-R205G mutation needs the presence of wild-type Cx46 to disrupt lens peripheral fibers and epithelial cells. Electrophysiological data in Xenopus oocytes reveal that Cx50-R205G mutant proteins block channel function of gap junctions composed of wild-type Cx50, but only affect the gating of wild-type Cx46 channels. Both genetic and electrophysiological results suggest that Cx50-R205G mutant proteins alone are unable to form functional channels. These findings imply that the Gja8(R205G mutation differentially impairs the functions of Cx50 and Cx46 to cause cataracts, small lenses and microphthalmia. The Gja8(R205G mutation occurs at the same conserved residue as the human GJA8(R198W mutation. This work provides molecular insights to understand the cataract and microphthalmia/microcornea phenotype caused by Gja8 mutations in mice and humans.

  19. Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.

    Science.gov (United States)

    Xia, Chun-Hong; Chang, Bo; Derosa, Adam M; Cheng, Catherine; White, Thomas W; Gong, Xiaohua

    2012-01-01

    The mouse semi-dominant Nm2249 mutation displays variable cataracts in heterozygous mice and smaller lenses with severe cataracts in homozygous mice. This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50 (or α8 connexin) protein. Immunohistological data reveal that Cx50-R205G mutant proteins and endogenous wild-type Cx46 (or α3 connexin) proteins form diffuse tiny spots rather than typical punctate signals of normal gap junctions in the lens. The level of phosphorylated Cx46 proteins is decreased in Gja8(R205G/R205G) mutant lenses. Genetic analysis reveals that the Cx50-R205G mutation needs the presence of wild-type Cx46 to disrupt lens peripheral fibers and epithelial cells. Electrophysiological data in Xenopus oocytes reveal that Cx50-R205G mutant proteins block channel function of gap junctions composed of wild-type Cx50, but only affect the gating of wild-type Cx46 channels. Both genetic and electrophysiological results suggest that Cx50-R205G mutant proteins alone are unable to form functional channels. These findings imply that the Gja8(R205G) mutation differentially impairs the functions of Cx50 and Cx46 to cause cataracts, small lenses and microphthalmia. The Gja8(R205G) mutation occurs at the same conserved residue as the human GJA8(R198W) mutation. This work provides molecular insights to understand the cataract and microphthalmia/microcornea phenotype caused by Gja8 mutations in mice and humans.

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

    Science.gov (United States)

    Wada, Kenta; Matsushima, Yoshibumi; Tada, Tomoki; Hasegawa, Sayaka; Obara, Yo; Yoshizawa, Yasuhiro; Takahashi, Gou; Hiai, Hiroshi; Shimanuki, Midori; Suzuki, Sari; Saitou, Junichi; Yamamoto, Naoki; Ichikawa, Masumi; Watanabe, Kei; Kikkawa, Yoshiaki

    2014-01-01

    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 downstream targets and

  1. Large pedinculated antral hyperplastic gastric polyp traversed the bulbus causing outlet obstruction and iron deficiency anemia:endoscopic removal

    Institute of Scientific and Technical Information of China (English)

    Murat Alper; Yusuf Akcan; Olcay Belenli

    2003-01-01

    We present here a large (3 cm) hyperplastic gastric polyp prolapsed into duodenum and caused outlet obstruction and iron deficiency anemia in 60 years old male patient.Endoscopic removal was performed successfully.

  2. 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

  3. 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.

  4. Some general remarks on hyperplasticity modelling and its extension to partially saturated soils

    Science.gov (United States)

    Lei, Xiaoqin; Wong, Henry; Fabbri, Antonin; Bui, Tuan Anh; Limam, Ali

    2016-06-01

    The essential ideas and equations of classic plasticity and hyperplasticity are successively recalled and compared, in order to highlight their differences and complementarities. The former is based on the mathematical framework proposed by Hill (The mathematical theory of plasticity. Oxford University Press, Oxford, 1950), whereas the latter is founded on the orthogonality hypothesis of Ziegler (An introduction to thermomechanics. Elsevier, North-Holland, 1983). The main drawback of classic plasticity is the possibility of violating the second principle of thermodynamics, while the relative ease to conjecture the yield function in order to approach experimental results is its main advantage. By opposition, the a priori satisfaction of thermodynamic principles constitutes the chief advantage of hyperplasticity theory. Noteworthy is also the fact that this latter approach allows a finer energy partition; in particular, the existence of frozen energy emerges as a natural consequence from its theoretical formulation. On the other hand, the relative difficulty to conjecture an efficient dissipation function to produce accurate predictions is its main drawback. The two theories are thus better viewed as two complementary approaches. Following this comparative study, a methodology to extend the hyperplasticity approach initially developed for dry or saturated materials to the case of partially saturated materials, accounting for interface energies and suction effects, is developed. A particular example based on the yield function of modified Cam-Clay model is then presented. It is shown that the approach developed leads to a model consistent with other existing works.

  5. Melatonin prevents the development of hyperplastic urothelium induced by repeated doses of cyclophosphamide.

    Science.gov (United States)

    Zupancic, Dasa; Vidmar, Gaj; Jezernik, Kristijan

    2009-06-01

    Repeated cyclophosphamide (CP) chemotherapy increases the risk of developing bladder cancer, which could be due to the extremely rapid proliferation of urothelial cells observed in hyperplastic urothelium induced by CP treatment. We investigated the effect of melatonin on the development of urothelial hyperplasia induced by repeated CP treatment. Male ICR mice were injected with CP (150 mg/kg) or melatonin (10 mg/kg) with CP once a week for 3, 4 and 5 weeks. Transmission and scanning electron microscopy, immunohistochemistry and Western blot analysis were used to study the ultrastructure, apoptosis, proliferation and differentiation of urothelial cells. Repeated doses of CP caused the development of hyperplastic urothelium with up to ten cell layers and increased proliferation and apoptotic indices regarding Ki-67 and active caspase-3 immunohistochemistry, respectively. Scanning electron microscopy observations, cytokeratin and asymmetrical unit membrane immunohistochemistry and Western blot analysis showed a lower differentiation state of superficial urothelial cells. Melatonin co-treatment prevented the development of hyperplastic urothelium, statistically significantly decreased proliferation and apoptotic indices after four and five doses of CP and caused higher differentiation state of superficial urothelial cells.

  6. 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.

  7. 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....

  8. Lens specific RLIP76 transgenic mice show a phenotype similar to microphthalmia.

    Science.gov (United States)

    Sahu, Mukesh; Sharma, Rajendra; Yadav, Sushma; Wakamiya, Maki; Chaudhary, Pankaj; Awasthi, Sanjay; Awasthi, Yogesh C

    2014-01-01

    RALBP1/RLIP76 is a ubiquitously expressed protein, involved in promotion and regulation of functions initiated by Ral and R-Ras small GTPases. Presence of multiple domains in its structure enables RLIP76 to be involved in a number of physiological processes such as endocytosis, exocytosis, mitochondrial fission, actin cytoskeleton remodeling, and transport of exogenous and endogenous toxicants. Previously, we have established that RLIP76 provides protection to ocular tissues against oxidative stress by transporting the glutathione-conjugates of the toxic, electrophilic products of lipid peroxidation generated during oxidative stress. Therefore, we developed lens specific RLIP76 transgenic mice (lensRLIP76 Tg) to elucidate the role of RLIP76 in protection against oxidative stress, but these transgenic mice showed impaired lens development and a phenotype with small eyes similar to that observed in microphthalmia. These findings prompted us to investigate the mechanisms via which RLIP76 affects lens and eye development. In the present study, we report engineering of lensRLIP76 Tg mice, characterization of the associated phenotype, and the possible molecular mechanisms that lead to the impaired development of eye and lens in these mice. The results of microarray array analysis indicate that the genes involved in pathways for G-Protein signaling, actin cytoskeleton reorganization, endocytosis, and apoptosis are affected in these transgenic mice. The expression of transcription factors, Pax6, Hsf1, and Hsf4b known to be involved in lens development is down regulated in the lens of these Tg mice. However, the expression of heat shock proteins (Hsps), the downstream targets of Hsfs, is differentially affected in the lens showing down regulation of Hsp27, Hsp40, up regulation of Hsp60, and no effect on Hsp70 and Hsp90 expression. The disruption in the organization of actin cytoskeleton of these Tg mice was associated with the inhibition of the activation of Cdc42 and

  9. Androgen receptor expression in normal, hyperplastic and neoplastic hepatoid glands in the dog.

    Science.gov (United States)

    Pisani, G; Millanta, F; Lorenzi, D; Vannozzi, I; Poli, A

    2006-10-01

    Neoplasms of the perianal glands are common in the dog, particularly in the male. The occurrence of these tumours appears to be hormone related and castration, without excision of the tumour, has sometimes resulted in regression of the tumour. The aim of this study was to investigate the expression of androgen receptors (AR) in normal, hyperplastic and neoplastic hepatoid glands in the dog. Thirty-one samples of canine hepatoid gland tissues were investigated. The lesions, classified according to WHO criteria, were comprised of 19 hyperplastic tissues, 10 benign lesions (2 hepatoid gland epithelioma and 8 hepatoid adenomas), and 19 carcinomas. Five samples from normal hepatoid glands were also investigated. The AR expression was evaluated by immunohistochemistry using a streptavidin-biotin peroxidase method. The immunoexpression was scored by two pathologists as the percentage of positive nuclei. The intensity of staining was also considered. AR expression was detected in all normal and abnormal glands. However, in hyperplastic tissues the percentage of positive nuclei was significantly higher than in normal tissue and especially in reserve basaloid cells. A similar increase in the percent of positive nuclei was also observed in hepatoid epitheliomas, while in hepatoid adenoma the percent of AR-immunolabelling was only slightly increased compared to normal tissue. In hepatoid carcinomas the percent of AR-positive cells was similar to that observed in benign tumours. The grade of differentiation of hepatoid carcinomas did not affect AR expression. These results demonstrate that increased AR expression is maintained throughout perianal gland cancer progression and that hepatoid gland carcinomas still express AR. Although further studies may be required to evaluate the hormonal background of these diseases, dogs bearing those carcinomas might benefit from castration or anti hormonal therapy.

  10. Influence of ethanol on development of hyperplastic nodules in alcoholic men with micronodular cirrhosis

    DEFF Research Database (Denmark)

    Gluud, C; Christoffersen, Pernille Yde; Eriksen, J

    1987-01-01

    The type of cirrhosis was blindly evaluated in follow-up liver biopsies performed on 106 alcoholic men with micronodular cirrhosis. The median time interval from entry to follow-up liver biopsy was 31 mo (range, 3-44 mo). Patients were stratified into four groups according to their maximal......% in those who consumed an excessive amount. In conclusion, alcoholic men with micronodular cirrhosis develop hyperplastic nodules during follow-up, the rate and prevalence of which is significantly related to the amount of ethanol consumed during follow-up. Ethanol consumption may inhibit hepatocellular...... proliferation in alcoholic men with micronodular cirrhosis....

  11. Mammalian hyperplastic discs homolog EDD regulates microRNA-mediated gene silencing

    OpenAIRE

    2011-01-01

    MicroRNAs (miRNAs) regulate gene expression through translation repression and mRNA destabilization. However, the molecular mechanisms of miRNA silencing are still not well defined. Using a genetic screen in mouse embryonic stem (ES) cells, we identify mammalian hyperplastic discs protein EDD, a known E3 ubiquitin ligase, as a key component of the miRNA silencing pathway. ES cells deficient for EDD are defective in miRNA function and exhibit growth defects. We demonstrate that E3 ubiquitin li...

  12. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Grillo, A.; Ferrero, G.B.; Baldini, A.; Ballabio, A.; Zoghbi, H.Y.; Roth, E.J. [Baylor College of Medicine, Houston, TX (United States); Magenis, E.; Grompe, M. [Oregon Health Science Univ., Portland, OR (United States); Hulten, M. [East Birmingham Hospital, Birmingham (United Kingdom)] [and others

    1994-01-15

    The microphthalmia with linear skin defects (MLS) syndrome (MIM309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 305050) and Goltz (MIM 305600) syndromes, two X-linked dominant, male-lethal disorders. Here the authors report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter-p22.2 deletion. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X-inactivation plays an important role in determining the phenotype of the MLS syndrome. The authors propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X-inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, they cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome). 24 refs., 4 figs., 1 tab.

  13. Distinct and shared transcriptomes are regulated by microphthalmia-associated transcription factor isoforms in mast cells.

    Science.gov (United States)

    Shahlaee, Amir H; Brandal, Stephanie; Lee, Youl-Nam; Jie, Chunfa; Takemoto, Clifford M

    2007-01-01

    The Microphthalmia-associated transcription factor (Mitf) is an essential basic helix-loop-helix leucine zipper transcription factor for mast cell development. Mice deficient in Mitf harbor a severe mast cell deficiency, and Mitf-mutant mast cells cultured ex vivo display a number of functional defects. Therefore, an understanding of the genetic program regulated by Mitf may provide important insights into mast cell differentiation. Multiple, distinct isoforms of Mitf have been identified in a variety of cell types; we found that Mitf-a, Mitf-e, and Mitf-mc were the major isoforms expressed in mast cells. To determine the physiologic function of Mitf in mast cells, we restored expression of these isoforms in primary mast cells from Mitf(-/-) mice. We found that these isoforms restored granular morphology and integrin-mediated migration. By microarray analysis, proteases, signaling molecules, cell surface receptor, and transporters comprised the largest groups of genes up-regulated by all isoforms. Furthermore, we found that isoforms also regulated distinct genes sets, suggesting separable biological activities. This work defines the transcriptome regulated by Mitf in mast cells and supports its role as master regulator of mast cell differentiation. Expression of multiple isoforms of this transcription factor may provide for redundancy of biological activities while also allowing diversity of function.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. The Expression of Bcl-2 and Bax in Normal,Hyperplastic,and Malignant Endometrium

    Institute of Scientific and Technical Information of China (English)

    ZHONGGang; TANLingfang; 等

    2002-01-01

    Objective:To investigate the expression of Bcl-2 and Bax proteins in normal,hyperplastic,and malignant endometrium.Methods:Endometrial tissues were obtained from 14 proliferative endometrial samples;simple(n=30)and complex hyperplasia without atypia(n=13);complex hyperplasia with atypia(n=20)and endometrial adenocarcinoma(n=17).The expression of Bcl-2and Bax proteins was detected by using immunohistochemical staining with appropriate antibodies.Results:The intensity of Bcl-2 staining was gradually increased from proliferative to simple and complex hyperplasia,but it was gradually decreased from atypia hyperplasia to endometrial adenocarcinoma(P<0.05).The intensity of Bax staining was gradually increased from proliferative endometrium to simple and complex hyperplasia,but in atypia hyperplasia it was obviously lower than simple hyperplasia,the ratio of Bco-2;Bax staining intensity was changed with the endometrium from proliferative,hyperplastic endo-metrium to endometrial adenocarcinoma.The ratio of Bcl-2;Bax staining intensity was obviously decreased in atypia hyperplasia and endometrial adenocarcinoma.Conclusion:The survival time of the cells in hyperplasia expressing Bcl-2 might be prolonged.Neoplastic cells in atypia hyperplasia and adenocarcinoma might show a decreased expression of Bcl-2 and Bax,suggesting that Bcl-2 and Bax might be important indexes and prognosis factors and the expression of Bcl-2 and Bax might be correlated with carcinogenesis in the uterine endometrium of hu-mans.

  20. 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.

  1. 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.

  2. Endoscopic mucosal resection of large hyperplastic polyps in 3 patients with Barrett's esophagus

    Institute of Scientific and Technical Information of China (English)

    Antonella De Ceglie; Gabriella Lapertosa; Sabrina Blanchi; Marcello Di Muzio; Massimo Picasso; Rosangela Filiberti; Francesco Scotto; Massimo Conio

    2006-01-01

    AIM: To report the endoscopic treatment of large hyperplastic polyps of the esophagus and esophagogastric junction (EGJ) associated with Barrett's esophagus (BE) with low-grade dysplasia (LGD), by endoscopic mucosal resection (EMR).METHODS: Cap fitted EMR (EMR-C) was performed in 3 patients with hyperplastic-inflammatory polyps (HIPs) and BE.RESULTS: The polyps were successfully removed in the 3 patients. In two patients, with short segment BE (SSBE)(≤ 3 cm), the metaplastic tissue was completely excised.A 2 cm circumferential EMR was performed in one patient with a polyp involving the whole EGJ. A simultaneous EMR-C of a BE-associated polypoid dysplastic lesion measuring 1cm × 10 cm, was also carried out. In the two patients, histologic assessment detected LGD in BE.No complications occurred. Complete neosquamous reepithelialization occurred in the two patients with SSBE.An esophageal recurrence occurred in the remaining one and was successfully retreated by EMR.CONCLUSION: EMR-C appears to be a safe and effective method for treating benign esophageal mucosal lesions, allowing also the complete removal of SSBE.

  3. Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

    Science.gov (United States)

    Huang, Xiaobo; Xiao, Xueshan; Jia, Xiaoyun; Li, Shiqiang; Li, Miaoling; Guo, Xiangming; Liu, Xing; Zhang, Qingjiong

    2015-10-01

    Genetic factors have an important role in the development of glaucoma; however, the exact genetic defects remain to be identified in the majority of patients. Glaucoma is frequently observed in patients with anterior segment dysgenesis (ASD), microcornea or microphthalmia. The present study aimed to detect the potential mutations in the genes associated with ASD, microcornea and microphthalmia in 257 patients with glaucoma. Variants in 43 of the 46 genes, which are associated with ASD, microcornea or microphthalmia, were available in whole‑exome sequencing. Candidate variants in the 43 genes were selected following multi‑step bioinformatic analysis and were subsequently confirmed by Sanger sequencing. Confirmed variants were further validated by segregation analysis and analysis of controls. Overall, 70 candidate variants were selected from whole‑exome sequencing, of which 53 (75.7%) were confirmed by Sanger sequencing. In total, 27 of the 53 were considered potentially pathogenic based on bioinformatic analysis and analysis of controls. Of the 27, 6 were identified in BEST1, 4 in EYA1, 3 in GDF6, 2 in BMP4, 2 in CRYBA4, 2 in HCCS, and 1 in each of CRYAA, CRYGC, CRYGD, COL4A1, FOXC1, GJA8, PITX2 and SHH. The 27 variants were detected in 28 of 257 (10.9%) patients, including 11 of 125 patients with primary open‑angle glaucoma and 17 of 132 patients with primary angle‑closure glaucoma. Variants in these genes may be a potential risk factor for primary glaucoma. Careful clinical observation and analysis of additional patients in different populations are expected to further these findings.

  4. 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.

  5. Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice.

    Science.gov (United States)

    Rosemann, Michael; Ivashkevich, Alesia; Favor, Jack; Dalke, Claudia; Hölter, Sabine M; Becker, Lore; Rácz, Ildikó; Bolle, Ines; Klempt, Martina; Rathkolb, Birgit; Kalaydjiev, Svetoslav; Adler, Thure; Aguilar, Antonio; Hans, Wolfgang; Horsch, Marion; Rozman, Jan; Calzada-Wack, Julia; Kunder, Sandra; Naton, Beatrix; Gailus-Durner, Valerie; Fuchs, Helmut; Schulz, Holger; Beckers, Johannes; Busch, Dirk H; Burbach, J Peter H; Smidt, Marten P; Quintanilla-Martinez, Leticia; Esposito, Irene; Klopstock, Thomas; Klingenspor, Martin; Ollert, Markus; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; de Angelis, Martin Hrabé; Atkinson, Michael; Heinzmann, Ulrich; Graw, Jochen

    2010-02-01

    A new spontaneous mouse mutant was characterized by closed eyelids at weaning and without apparent eyes (provisional gene name, eyeless; provisional gene symbol, eyl). The mutation follows a recessive pattern of inheritance and was mapped to the region of chromosome 19 containing Pitx3. Genetic complementation tests using Pitx3 ( ak/+ ) mice confirmed eyl as a new allele of Pitx3 (Pitx3 ( eyl )). Sequencing of the Pitx3 gene in eyl mutants identified an inserted G after cDNA position 416 (416insG; exon 4). The shifted open reading frame is predicted to result in a hybrid protein still containing the Pitx3 homeobox, but followed by 121 new amino acids. The novel Pitx3 ( eyl/eyl ) mutants expressed ophthalmological and brain defects similar to Pitx3 ( ak/ak ) mice: microphthalmia or anophthalmia and loss of dopamine neurons of the substantia nigra. In addition, we observed in the homozygous eyeless mutants increased extramedullary hematopoiesis in the spleen, frequently liver steatosis, and reduced body weight. There were also several behavioral changes in the homozygous mutants, including reduced forelimb grip strength and increased nociception. In addition to these alterations in both sexes, we observed in female Pitx3 ( eyl/eyl ) mice increased anxiety-related behavior, reduced locomotor activity, reduced object exploration, and increased social contacts; however, we observed decreased anxiety-related behavior and increased arousal in males. Most of these defects identified in the new Pitx3 mutation are observed in Parkinson patients, making the Pitx3 ( eyl ) mutant a valuable new model. It is the first mouse mutant carrying a point mutation within the coding region of Pitx3.

  6. 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.

  7. Laparoscopic nephron-sparing resection of synchronous Wilms tumors in a case of hyperplastic perilobar nephroblastomatosis.

    Science.gov (United States)

    Rauth, Thomas P; Slone, Jeremy; Crane, Gabriella; Correa, Hernan; Friedman, Debra L; Lovvorn, Harold N

    2011-05-01

    Diffuse hyperplastic perilobar nephroblastomatosis (DHPLN) is a rare precursor lesion of Wilms tumor (WT). Because of the increased risk to develop WT in either kidney, current management algorithms of DHPLN merit nephron-sparing strategies, beginning with chemotherapy and close radiographic monitoring into late childhood. After resolution of DHPLN, subsequent detection of a renal nodule mandates resection to exclude WT. Here, we report the case of a 4-year-old girl who developed 2 synchronous nodules in the right kidney more than 2 years after completion of therapy for DHPLN. Because of the early detection and peripheral location of these 2 nodules, laparoscopic nephron-sparing resection of each was performed using ultrasonic dissection. Both nodules were determined on pathology to be favorable histology WT with negative surgical margins. The child was placed on vincristine and actinomycin D therapy for 18 weeks.

  8. Zigzag Persistence

    CERN Document Server

    Carlsson, Gunnar

    2008-01-01

    We describe a new methodology for studying persistence of topological features across a family of spaces or point-cloud data sets, called zigzag persistence. Building on classical results about quiver representations, zigzag persistence generalises the highly successful theory of persistent homology and addresses several situations which are not covered by that theory. In this paper we develop theoretical and algorithmic foundations with a view towards applications in topological statistics.

  9. Differential Expression of Cell Cycle Regulators During Hyperplastic and Hypertrophic Growth of Broiler Subcutaneous Adipose Tissue.

    Science.gov (United States)

    Zhang, J; Suh, Y; Choi, Y M; Chen, P R; Davis, M E; Lee, K

    2015-10-01

    Hyperplastic growth and hypertrophic growth within adipose tissue is tightly associated with cell cycle activity. In this study, CCNG2 and CDKN2C were found to be correlated with cell cycle inhibition during fat cell differentiation, whereas CCND3, CCNA1, and ANAPC5 were positively associated with cell cycle activity during fat cell proliferation after selection based on GEO datasets available on the NCBI website. The findings were validated through comparison of expressions of these genes among different tissues/fractions in broiler chickens and time points during primary cell culture using quantitative real-time PCR. Development of broiler subcutaneous adipose tissue was investigated on embryonic days 15 and 17 and on post-hatch days 0, 5, 11, and 33 using H&E staining and PCNA immunostaining with DAPI counter stain. In addition, mRNA expressions of five cell cycle regulators as well as precursor cell and adipocyte markers were measured at those time points. The results suggest that cellular proliferation activity decreased as the fat pad grows, but a population of precursor cells seemed to be maintained until post-hatch day 5 despite increasing differentiation activity. Hypertrophic growth gradually intensified despite a slight cessation on post-hatch day 0 due to increased energy expenditure during hatching and delayed food access. From post-hatch day 5 to day 11, most of the precursor cells may become differentiated. After post-hatch day 11, hyperplastic growth seemed to slow, while hypertrophic growth may become dominant. This study provides further understanding about broiler fat tissue development which is imperative for effective control of fat deposition.

  10. 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.

  11. SOX2 defect and anophthalmia and microphthalmia%SOX2基因缺陷与先天性小眼球和无眼球

    Institute of Scientific and Technical Information of China (English)

    叶福相; 范先群

    2012-01-01

    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.%先天性小眼球和无眼球是一种严重眼球先天性发育疾病,患侧通常有严重的视力障碍,同时伴有患侧眼眶发育迟缓.先天性小眼球和无眼球的发病与诸多基因相关,其中,较为重要的是SOX2基因,其缺陷可导致包括先天性无眼球和小眼球在内的多系统异常.本文对SOX2基因缺陷与先天性小眼球和无眼球之间的关系进行简要综述,为先天性小眼球和无眼球的鉴别、诊治和研究提供一定的参考.

  12. Persister Awakening.

    Science.gov (United States)

    Lewis, Kim; Shan, Yue

    2016-07-07

    In this issue of Molecular Cell, Cheverton et al. (2016) report that Samonella toxin TacT contributes to persister formation by acetylating tRNA, a novel mechanism of toxin action. Hydrolyzing corrupted tRNA resuscitates persisters.

  13. 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.

  14. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?

    Energy Technology Data Exchange (ETDEWEB)

    Bird, L.M.; Krous, H.F.; Eichenfield, L.F.; Swalwell, C.I.; Jones, M.C. [Univ. of California, San Diego, CA (United States)

    1994-11-01

    A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy is also X-linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. 43 refs., 2 figs., 2 tabs.

  15. Effect of radiation on TGF-β1 and bFGF expression in hyperplastic prostatic tissues

    Institute of Scientific and Technical Information of China (English)

    Qing-Jie Ma; Xin-Quan Gu; Xia Cao; Jie Zhao; Xiang-Bo Kong; Yu-Xin Li; Shan-Yu Cai

    2005-01-01

    Aim: To investigate the transforming growth factor β1 (TGF-β1) and basic fibroblast growth factor (bFGF) expressions in benign prostatic hyperplasia (BPH) and the effect of β-radiation. Methods: TGF-β1 and bFGF expression was studied by means of an immunohistochemical method in nine normal prostatic (NP) tissues, 15 hyperplastic prostatic tissues and 35 hyperplastic prostatic tissues treated with 90Sr/90Y. Results: The TGF-β1 expression in the epithelium and stroma of normal prostatic tissues was 68.2 % ± 10.5 % and 29.7 % ± 4.6 %, respectively, while it was 64.8%±9.3% and 28.6%±4.1%, respectively, in hyperplastic prostatic tissues. Compared with the controls,TGF-β1 expression in the epithelia and stroma of BPH treated with 90Sr/90Y increased significantly (P < 0.01). The bFGF expression in epithelia and stroma of normal prostatic tissues was 17.4 % ± 3.7 % and 42.5 % ± 6.8 %,respectively, and was 46.3 %±8.2 % and 73.2 % ± 12.1%, respectivley, in hyperplastic prostatic tissues. Compared with the controls, expressions of bFGF in the epithelia and stroma of BPH treated with a 90Sr/90Y prostatic hyperplasia applicator decreased significantly (P<0.01). Conclusion: Exposure of β-rays had noticeable effects on BPH tissues, enhancing TGF-β1 expression and inhibiting bFGF expression.

  16. Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.

    Science.gov (United States)

    Ali, Manir; Buentello-Volante, Beatriz; McKibbin, Martin; Rocha-Medina, J Alberto; Fernandez-Fuentes, Narcis; Koga-Nakamura, Wilson; Ashiq, Aruna; Khan, Kamron; Booth, Adam P; Williams, Grange; Raashid, Yasmin; Jafri, Hussain; Rice, Aine; Inglehearn, Chris F; Zenteno, Juan Carlos

    2010-06-23

    To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonography of the eyes was performed on some family members. Genomic DNA was analyzed by homozygosity mapping using the Affymetrix 6.0 SNP array and linkage was confirmed with polymorphic microsatellite markers. Candidate genes were sequenced. A diagnosis of autosomal recessive sclerocornea was established for 7 members of the Pakistani and 8 members of the Mexican pedigrees. In the Pakistani family we established linkage to a region on chromosome 1p that contained Forkhead Box E3 (FOXE3), a strong candidate gene since FOXE3 mutations had previously been associated with various anterior segment abnormalities. Sequencing FOXE3 identified the previously reported nonsense mutation, c.720C>A, p.C240X, in the Pakistani pedigree and a novel missense mutation which disrupts an evolutionarily conserved residue in the forkhead domain, c.292T>C, p.Y98H, in the Mexican pedigree. Individuals with heterozygous mutations had no ocular abnormalities. MRI or ultrasonography confirmed that the patients with sclerocornea were also aphakic, had microphthalmia and some had optic disc coloboma. This is the fourth report detailing homozygous FOXE3 mutations causing anterior segment abnormalities in human patients. Previous papers have emphasized aphakia and microphthalmia as the primary phenotype, but we find that the initial diagnosis - and perhaps the only one possible in a rural setting - is one of non-syndromic, bilateral, total sclerocornea. Dominantly inherited anterior segment defects have also been noted in association with heterozygous FOXE3 mutations. However the absence of any abnormalities in the FOXE3

  17. Importance of the surrounding colonic mucosa in distinguishing between hyperplastic and adenomatous polyps during acetic acid chromoendoscopy

    Institute of Scientific and Technical Information of China (English)

    Jeong Hwan Kim; Sun-Young Lee; Byung Kook Kim; Won Hyeok Choe; So Young Kwon; In-Kyung Sung; Hyung-Seok Park; Choon-Jo Jin

    2008-01-01

    AIM: To examine the characteristics of colonic polyps, where it is difficult to distinguish adenomatous polyps from hyperplastic polyps, with the aid of acetic acid chromoendoscopy.METHODS: Acetic acid spray was applied to colonic polyps smaller than 10 mm before complete excision. Endoscopic images were taken before and 15-30 s after the acetic acid spray. Both pre- and post-sprayed images were shown to 16 examiners, who were asked to interpret the lesions as either hyperplastic or adenomatous polyps. Regression analysis was performed to determine which factors were most likely related to diagnostic accuracy.RESULTS: In 50 cases tested by the 16 examiners, the overall accuracy was 62.4% (499/800). Regression analysis demonstrated that surrounding colonic mucosa was the only factor that was significantly related to accuracy in discriminating adenomatous from hyperplastic polyps (P < 0.001). Accuracy was higher for polyps with linear surrounding colonic mucosa than for those with nodular surrounding colonic mucosa (P < 0.001), but was not related to the shape, location, or size of the polyp.CONCLUSION: The accuracy of predicting histology is significantly related to the pattern of colonic mucosa surrounding the polyp. Making a histological diagnosis of colon polyps merely by acetic acid spray is helpful for colon polyps with linear, regularly patterned surrounding colonic mucosa, and less so for those with nodular, irregularly patterned surrounding colonic mucosa.

  18. Immunohistochemical expression of PTEN in normal, hyperplastic and endometrial carcinoma of endometrium

    Directory of Open Access Journals (Sweden)

    IzadiMood

    2008-08-01

    Full Text Available "nBackground: Endometrial carcinoma is the most common malignancy of the female genital tract. Different molecular alterations have been described in endometrioid endometrial carcinoma that, the most frequently altered gene is mutations of PTEN. Up to 50-83% of endometrioid carcinoma reveal altered PTEN characterized by loss of expression. In endometrial hyperplasia, which are precursors of endometrioid carcinoma, loss of PTEN expression is 30-63%."n"nMethods: Immunohistochemical staining was performed on 90 cases of endometrial curettage including: 30 proliferative endometrium, 30 hyperplastic endometrium and 30 endometroid carcinoma."n"nImmunohistochemical specimens were graded semiquatitatively by considering the percentage of staining with two cut-point 10% & 50% on the whole section for each specimen."n"nResults: loss of PTEN expression was observed 0%, 0%, 30% of 51.7% in proliferative, simple hyperplasia, complex hyperplasia and endometrioid carcinoma respectively with cut-point 10% and 0%, 5.3%, 30%, 52.2% in endometrioid carcinoma respectively with cut-point 50%. Also there was no difference in PTEN expression between atypical complex hyperplasia and endometrioid carcinoma but there was significant difference between simple hyperplasia and proliferative with endometrioid carcinoma & atypical complex hyperplasia."n"nConclusion: These results show loss of PTEN expression in endmetrioid carcinoma and no differences between endometrioid carcinoma and atypical complex hyperplasia. Therefore, assessment of PTEN expression by negative immunostaining and matched with routine hematoxylin and eosin stained can be a new tool for diagnosis of endometrioid carcinoma.

  19. Bik reduces hyperplastic cells by increasing Bak and activating DAPk1 to juxtapose ER and mitochondria.

    Science.gov (United States)

    Mebratu, Yohannes A; Leyva-Baca, Ivan; Wathelet, Marc G; Lacey, Neal; Chand, Hitendra S; Choi, Augustine M K; Tesfaigzi, Yohannes

    2017-10-06

    Bik reduces hyperplastic epithelial cells by releasing calcium from endoplasmic reticulum stores and causing apoptosis, but the detailed mechanisms are not known. Here we report that Bik dissociates the Bak/Bcl-2 complex to enrich for ER-associated Bak and interacts with the kinase domain of DAPk1 to form Bik-DAPk1-ERK1/2-Bak complex. Bik also disrupts the Bcl2-IP3R interaction to cause ER Ca(2+) release. The ER-associated Bak interacts with the kinase and calmodulin domains of DAPk1 to increase the contact sites of ER and mitochondria, and facilitate ER Ca(2+) uptake by mitochondria. Although the Bik BH3 helix was sufficient to enrich for ER-Bak and elicit ER Ca(2+) release, Bik-induced mitochondrial Ca(2+) uptake is blocked with reduced Bak levels. Further, the Bik-derived peptide reduces allergen- and cigarette smoke-induced mucous cell hyperplasia in mice and in differentiated primary human airway epithelial cultures. Therefore, Bik peptides may have therapeutic potential in airway diseases associated with chronic mucous hypersecretion.Bcl-2 interacting killer (Bik) decreases airway epithelial hyperplasia via apoptosis mediated by calcium release from the endoplasmic reticulum (ER), but the mechanism is unclear. Here the authors show that Bik promotes Bak enrichment at the ER to tether mitochondria for efficient calcium transfer.

  20. No differences in morphological characteristics between hyperplastic condyle and class III condyle.

    Science.gov (United States)

    Goulart, D R; Muñoz, P; Olate, S; de Moraes, M; Fariña, R

    2015-10-01

    The aim of this research was to compare the condylar morphology of patients with unilateral condylar hyperplasia (UCH) and patients with a class III skeletal relationship using cone beam computed tomography (CBCT). A prospective study was conducted on patients with facial asymmetry attending the division of oral and maxillofacial surgery of the study university in Chile. Fifteen patients with UCH and 15 with a class III skeletal relationship were selected. Linear measurements of the condylar processes were obtained at a scale of 1:1 using the software Ez3D Viewer Plus. Analysis of variance (ANOVA) and the paired t-test were used, considering Pclass III skeletal relationship showed no differences between the right and left sides; the morphology of their condyles was similar to the condyles with hyperplasia and presented statistical differences when compared with the non-hyperplastic condyles (one-way ANOVA, Pclass III skeletal relationship. These findings provide an insight into the possibility of some class III patients presenting bilateral condylar hyperplasia.

  1. 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.

  2. An unusual oral squamous cell carcinoma of the mandible, mimicked inflammatory hyperplastic lesions: A case report

    Directory of Open Access Journals (Sweden)

    Hamed Hosseinkazemi

    2015-12-01

    Full Text Available Abstract   Squamous cell carcinoma (SCC is the most common malignant tumors of oral cavity. The ratio of men to women is about 2: 1. Generally, it   is admitted that 60% of carcinoma of the mandibular gingival are located in the posterior of premolars. Gingiva is one of the less common sites of oral squamous cell carcinoma (OSCC. Due to the variable clinical and behavioral presentations, it can easily be misdiagnosed as benign neoplasms or other inflammatory reactions. We encountered a 76-year-old woman with an unusual OSCC on the anterior mandibular ridge, imitating inflammatory hyperplastic (IH lesion in May 2013. She complained that her denture was not seated suitably because of a mandibular lesion. After biopsy of the lesion, the surgeon noticed that real bone resorption was not visible in the x-ray image. Then histopathological evaluation detected the OSCC. Patient was referred to the CT-Scan and MRI. Three months later, the lesion recurred, enlarged and extended rapidly and she was emphasized the importance of a secondary surgery in a timely fashion.. She did not accept and then underwent radiotherapy and chemotherapy. In November 2013, the patient passed away because of the progress of OSCC. This case reminded us to keep the possibility of oral SCC in mind while examining every intra-oral lesion.

  3. Mammalian hyperplastic discs homolog EDD regulates microRNA-mediated gene silencing

    Science.gov (United States)

    Su, Hong; Meng, Shuxia; Lu, Yanyan; Trombly, Melanie I.; Chen, Jian; Lin, Chengyi; Turk, Anita; Wang, Xiaozhong

    2011-01-01

    SUMMARY MicroRNAs (miRNAs) regulate gene expression through translation repression and mRNA destabilization. However, the molecular mechanisms of miRNA silencing are still not well defined. Using a genetic screen in mouse embryonic stem (ES) cells, we identify mammalian hyperplastic discs protein EDD, a known E3 ubiquitin ligase, as a key component of the miRNA silencing pathway. ES cells deficient for EDD are defective in miRNA function and exhibit growth defects. We demonstrate that E3 ubiquitin ligase activity is dispensable for EDD function in miRNA silencing. Instead, EDD interacts with GW182 family proteins in the Argonaute-miRNA complexes. The PABC domain of EDD is essential for its silencing function. Through the PABC domain, EDD participates in miRNA silencing by recruiting downstream effectors. Among the PABC-interactors, DDX6 and Tob1/2 are both required and sufficient for silencing mRNA targets. Taken together, these data demonstrate a critical function for EDD in miRNA silencing. PMID:21726813

  4. Mammalian hyperplastic discs homolog EDD regulates miRNA-mediated gene silencing.

    Science.gov (United States)

    Su, Hong; Meng, Shuxia; Lu, Yanyan; Trombly, Melanie I; Chen, Jian; Lin, Chengyi; Turk, Anita; Wang, Xiaozhong

    2011-07-08

    MicroRNAs (miRNAs) regulate gene expression through translation repression and mRNA destabilization. However, the molecular mechanisms of miRNA silencing are still not well defined. Using a genetic screen in mouse embryonic stem (ES) cells, we identify mammalian hyperplastic discs protein EDD, a known E3 ubiquitin ligase, as a key component of the miRNA silencing pathway. ES cells deficient for EDD are defective in miRNA function and exhibit growth defects. We demonstrate that E3 ubiquitin ligase activity is dispensable for EDD function in miRNA silencing. Instead, EDD interacts with GW182 family proteins in the Argonaute-miRNA complexes. The PABC domain of EDD is essential for its silencing function. Through the PABC domain, EDD participates in miRNA silencing by recruiting downstream effectors. Among the PABC-interactors, DDX6 and Tob1/2 are both required and sufficient for silencing mRNA targets. Taken together, these data demonstrate a critical function for EDD in miRNA silencing.

  5. [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.

  6. 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.

  7. 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.

  8. A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf.

    Science.gov (United States)

    Wiedemar, Natalie; Drögemüller, Cord

    2014-12-01

    Mutations in MITF lead to a large variety of phenotypes in human, mice and other species. They mostly affect pigmentation and hearing, whereas in mice, they may additionally cause microphthalmia and osteopetrosis. In this study, we report a single case of a Holstein calf with lack of pigmentation and microphthalmia born to healthy parents. Mendelian analysis of high-density SNP genotypes reveals a large number of parentage errors showing missing paternal alleles in the offspring, indicating a deletion encompassing 19 Mb on BTA 22. The genomic deletion affects the paternal allele and includes MITF and 131 other annotated genes. As the calf shows only one copy of the BTA 22 segment, the observed phenotype is probably caused by haploinsufficiency of the genes in that genomic region. Both the observed lack of skin pigmentation and reduced eye size can most likely be explained by a lack of MITF function.

  9. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.

    Science.gov (United States)

    Salem, Nabeel J M; Hempel, Maja; Heiliger, Katrin-Janine; Hosie, Stuart; Meitinger, Thomas; Oexle, Konrad

    2013-06-01

    A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.

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

    Directory of Open Access Journals (Sweden)

    Di Bonito Maurizio

    2007-01-01

    Full Text Available Abstract Background 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. Methods 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. Results 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. Conclusion The data shown here suggest that FRA-1 expression, including its intracellular localization, may be considered a useful marker for hyperplastic and neoplastic proliferative

  11. 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...... characteristic of architectural practice. But the persistence in persistent modelling can also be understood to apply in other ways, reflecting and anticipating extended roles for representation. This book identifies three principle areas in which these extensions are becoming apparent within contemporary....... 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....

  12. 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.)

  13. 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...

  14. Sesamin induces melanogenesis by microphthalmia-associated transcription factor and tyrosinase up-regulation via cAMP signaling pathway.

    Science.gov (United States)

    Jiang, Zequn; Li, Shasha; Liu, Yunyi; Deng, Pengyi; Huang, Jianguo; He, Guangyuan

    2011-10-01

    In this study, we confirmed that sesamin, an active lignan isolated from sesame seed and oil, is a novel skin-tanning compound. The melanin content and tyrosinase activity were increased by sesamin in a dose-dependent manner in B16 melanoma cells. The mRNA and protein levels of tyrosinase were also enhanced after the treatment with sesamin. Western blot analysis revealed that sesamin induced and sustained up-regulation of microphthalmia-associated transcription factor (MITF). Sesamin could activate cAMP response element (CRE) binding protein (CREB), but it had no effect on the phosphorylation of p38 mitogen-activated protein kinase (MAPK) or Akt. Moreover, sesamin activated protein kinase A (PKA) via a cAMP-dependent pathway. Consistent with these results, sesamin-mediated increase of melanin synthesis was reduced significantly by H-89, a PKA inhibitor, but not by SB203580, a p38 MAPK inhibitor or by LY294002, a phosphatidylinositol-3-kinase (PI3K) inhibitor. Sesamin-mediated phosphorylation of CREB and induction of MITF and tyrosinase expression were also inhibited by H-89. These findings indicated that sesamin could stimulate melanogenesis in B16 cells via the up-regulation of MITF and tyrosinase, which was, in turn, due to the activation of cAMP signaling.

  15. Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

    Science.gov (United States)

    Rea, Gillian; Homfray, Tessa; Till, Jan; Roses-Noguer, Ferran; Buchan, Rachel J.; Wilkinson, Sam; Wilk, Alicja; Walsh, Roddy; John, Shibu; McKee, Shane; Stewart, Fiona J.; Murday, Victoria; Taylor, Robert W.; Ashworth, Michael; Baksi, A. John; Daubeney, Piers; Prasad, Sanjay; Barton, Paul J.R.; Cook, Stuart A.; Ware, James S.

    2017-01-01

    Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related). PMID:28050600

  16. Failure to Target RANKL Signaling Through p38-MAPK Results in Defective Osteoclastogenesis in the Microphthalmia Cloudy-Eyed Mutant.

    Science.gov (United States)

    Carey, Heather A; Bronisz, Agnieszka; Cabrera, Jennifer; Hildreth, Blake E; Cuitiño, Maria; Fu, Qi; Ahmad, Asrar; Toribio, Ramiro E; Ostrowski, Michael C; Sharma, Sudarshana M

    2016-03-01

    The Microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper family factor that is essential for terminal osteoclast differentiation. Previous work demonstrates that phosphorylation of MITF by p38 MAPK downstream of Receptor Activator of NFkB Ligand (RANKL) signaling is necessary for MITF activation in osteoclasts. The spontaneous Mitf cloudy eyed (ce) allele results in production of a truncated MITF protein that lacks the leucine zipper and C-terminal end. Here we show that the Mitf(ce) allele leads to a dense bone phenotype in neonatal mice due to defective osteoclast differentiation. In response to RANKL stimulation, in vitro osteoclast differentiation was impaired in myeloid precursors derived from neonatal or adult Mitf(ce/ce) mice. The loss of the leucine zipper domain in Mitf(ce/ce) mice does not interfere with the recruitment of MITF/PU.1 complexes to target promoters. Further, we have mapped the p38 MAPK docking site within the region deleted in Mitf(ce). This interaction is necessary for the phosphorylation of MITF by p38 MAPK. Site-directed mutations in the docking site interfered with the interaction between MITF and its co-factors FUS and BRG1. MITF-ce fails to recruit FUS and BRG1 to target genes, resulting in decreased expression of target genes and impaired osteoclast function. These results highlight the crucial role of signaling dependent MITF/p38 MAPK interactions in osteoclast differentiation.

  17. Regulatory and Functional Connection of Microphthalmia-Associated Transcription Factor and Anti-Metastatic Pigment Epithelium Derived Factor in Melanoma

    Directory of Open Access Journals (Sweden)

    Asunción Fernández-Barral

    2014-06-01

    Full Text Available Pigment epithelium-derived factor (PEDF, a member of the serine protease inhibitor superfamily, has potent anti-metastatic effects in cutaneous melanoma through its direct actions on endothelial and melanoma cells. Here we show that PEDF expression positively correlates with microphthalmia-associated transcription factor (MITF in melanoma cell lines and human samples. High PEDF and MITF expression is characteristic of low aggressive melanomas classified according to molecular and pathological criteria, whereas both factors are decreased in senescent melanocytes and naevi. Importantly, MITF silencing down-regulates PEDF expression in melanoma cell lines and primary melanocytes, suggesting that the correlation in the expression reflects a causal relationship. In agreement, analysis of Chromatin immunoprecipitation coupled to high throughput sequencing (ChIP-seq data sets revealed three MITF binding regions within the first intron of SERPINF1, and reporter assays demonstrated that the binding of MITF to these regions is sufficient to drive transcription. Finally, we demonstrate that exogenous PEDF expression efficiently halts in vitro migration and invasion, as well as in vivo dissemination of melanoma cells induced by MITF silencing. In summary, these results identify PEDF as a novel transcriptional target of MITF and support a relevant functional role for the MITF-PEDF axis in the biology of melanoma.

  18. 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

    2016-01-01

    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. PMID:27602212

  19. SWI/SNF chromatin remodeling complex is critical for the expression of microphthalmia-associated transcription factor in melanoma cells

    Energy Technology Data Exchange (ETDEWEB)

    Vachtenheim, Jiri, E-mail: jivach@upn.anet.cz [Laboratory of Molecular Biology, University Hospital, Charles University, Prague (Czech Republic); Ondrusova, Lubica [Laboratory of Molecular Biology, University Hospital, Charles University, Prague (Czech Republic); Borovansky, Jan [Institute of Biochemistry and Experimental Oncology, 1st Faculty of Medicine, Charles University, Prague (Czech Republic)

    2010-02-12

    The microphthalmia-associated transcription factor (MITF) is required for melanocyte development, maintenance of the melanocyte-specific transcription, and survival of melanoma cells. MITF positively regulates expression of more than 25 genes in pigment cells. Recently, it has been demonstrated that expression of several MITF downstream targets requires the SWI/SNF chromatin remodeling complex, which contains one of the two catalytic subunits, Brm or Brg1. Here we show that the expression of MITF itself critically requires active SWI/SNF. In several Brm/Brg1-expressing melanoma cell lines, knockdown of Brg1 severely compromised MITF expression with a concomitant dowregulation of MITF targets and decreased cell proliferation. Although Brm was able to substitute for Brg1 in maintaining MITF expression and melanoma cell proliferation, sequential knockdown of both Brm and Brg1 in 501mel cells abolished proliferation. In Brg1-null SK-MEL-5 melanoma cells, depletion of Brm alone was sufficient to abrogate MITF expression and cell proliferation. Chromatin immunoprecipitation confirmed the binding of Brg1 or Brm to the promoter of MITF. Together these results demonstrate the essential role of SWI/SNF for expression of MITF and suggest that SWI/SNF may be a promissing target in melanoma therapy.

  20. 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.

  1. Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus

    Indian Academy of Sciences (India)

    Baskar Bakthavachalu; Sarmishtha Kalanke; Sanjeev Galande; B. Ramanamurthy; Pradeep Parab; Kalidas N. Kohale; Vasudevan Seshadri

    2010-08-01

    A spontaneous mutation in BALB/c mice that causes congenital dense cataract and microphthalmia (dcm) was reported previously. This abnormality was found to be inheritable and the mode of inheritance indicated that this phenotype is due to mutation of an autosomal recessive gene. We performed genetic screen to identify the underlying mutations through linkage analysis with the dcm progenies of F1 intercross. We identified the region of mutation on chromosome 3 and further mapping and sequence analysis identified the mutation in the GJA8 gene that encodes for connexin 50. The mutation represents a single nucleotide change at position 64 (G to C) that results in a change in the amino acid glycine to arginine at position 22 (G22R) and is identical to the mutation previously characterized as lop10. However, the phenotype of these mice differ from that of lop10 mice and since it is one of the very few genetic models with recessive pattern of inheritance, we propose that dcm mice can serve as a useful model for studying the dynamics and interaction of the gap junction formation in mouse eye development.

  2. Effects of carbon tetrachloride and azathioprine on diethylnitrosamine and N-2-fluorenylacetamide-induced hyperplastic liver nodule and hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Sakata,Tatsuro

    1984-12-01

    Full Text Available Effects of carbon tetrachloride (CCl4 and azathioprine (AZP on the evolution of hyperplastic liver nodules and foci and hepatocellular carcinoma (HCC were tested in short- and long-term in vivo experiments. In diethylnitrosamine (DEN-treated rats, which were fed a N-2-fluorenylacetamide (FAA-containing diet and additionally treated with repeated CCl4 injections, gamma-glutamyl transpeptidase (gamma-GTP-positive hyperplastic nodules were markedly developed in the 8th week of the experiment. However, their number and area in liver sections were remarkably small in DEN-treated rats fed a diet containing both FAA and AZP. Increased area of gamma-GTP-positive foci was also observed in the 12th week in DEN-injected rats fed a choline-devoid died alone or treated with repeated doses of CCl4 alone. Hepatocellular carcinoma in DEN-injected rats treated with both FAA and CCl4 was first detected in the 21st week, and the incidence up to the 36th week was very high. However, no hepatocellular carcinoma developed in DEN-injected rats treated with both FAA and AZP. The increased activity of liver aniline hydroxylase observed 12 h after the administration of FAA, AZP or DEN alone was not observed when AZP was administered simultaneously with FAA to DEN-injected rats. The mechanisms of the effects of CCl4 and AZP on hepatocarcinogenesis are discussed with special reference to drug interaction.

  3. 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.

  4. Relationship between the Balance of Hypertrophic/Hyperplastic Adipose Tissue Expansion and the Metabolic Profile in a High Glucocorticoids Model

    Directory of Open Access Journals (Sweden)

    María Guillermina Zubiría

    2016-07-01

    Full Text Available Adipose tissue (AT expansion is the result of two processes: hyperplasia and hypertrophy; and both, directly or indirectly, depend on the adipogenic potential of adipocyte precursor cells (APCs. Glucocorticoids (GCs have a potent stimulatory effect on terminal adipogenesis; while their effects on early stages of adipogenesis are largely unknown. In the present work, we study, in a model of high GC levels, the adipogenic potential of APCs from retroperitoneal AT (RPAT and its relationship with RPAT mass expansion. We employed a model of hyper-adiposity (30- and 60-day-old rats due to high endogenous GC levels induced by neonatal treatment with l-monosodium glutamate (MSG. We found that the RPAT APCs from 30-day-old MSG rats showed an increased adipogenic capacity, depending on the APCs’ competency, but not in their number. Analyses of RPAT adipocyte diameter revealed an increase in cell size, regardless of the rat age, indicating the prevalence of a hypertrophic process. Moreover, functional RPAT alterations worsened in 60-day-old rats, suggesting that the hyperplastic AT expansion found in 30-day-old animals might have a protective role. We conclude that GCs chronic excess affects APCs’ adipogenic capacity, modifying their competency. This change would modulate the hyperplastic/hypertrophic balance determining healthy or unhealthy RPAT expansion and, therefore, its functionality.

  5. 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

    Science.gov (United States)

    Piccione, Maria; Serra, Gregorio; Consiglio, Valeria; Di Fiore, Antonella; Cavani, Simona; Grasso, Marina; Malacarne, Michela; Pierluigi, Mauro; Viaggi, Chiara; Corsello, Giovanni

    2012-06-01

    Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis. The deletion of the potential HPE candidate genes NPAS3, EAPP, SNX6, and TULIP1, raises doubts about their pathologic role in determining HPE. It is likely that deletions of HPE genes are not sufficient to cause HPE, and that multiple genetic, chromosomal, and environmental factors interact to determine the variable clinical expression of HPE. This is the first case of a 14q deletion encompassing the HPE8 locus with the only features consistent with HPE-type anomalies affecting the ocular system (i.e., microphthalmia, coloboma), and without cerebral anomalies specific for HPE. The inclusion of potential HPE candidate genes in the deletion raises the question whether this patient is affected by a less severe form of HPE (HPE microform), or whether he has a new ID/MCA deletion syndrome.

  6. 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.

  7. Microphthalmia with linear skin defects syndrome (MLS): Characterization of the critical region and isolation of candidate genes

    Energy Technology Data Exchange (ETDEWEB)

    Schaefer, L.; Wapenaar, M.C.; Grillo, A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Microphthalmia with linear skin defects syndrome (MLS) is an X-linked male-lethal disorder characterized by abnormalities in the development of the eye, skin, and brain. We defined the MLS critical region through analysis of hybrid cell lines retaining various deletion breakpoints in Xp22, including cell lines from 17 female patients showing features of MLS. Using a combination of YAC cloning and long-range restriction analysis, the MLS candidate region was estimated to be 450-550 kb. A minimally overlapping cosmid contig comprised of 20 cosmid clones was subsequently developed in this region. These cosmids are currently being used to isolate expressed sequences using cross-species conservation studies and exon-trapping. An evolutionarily conserved sequence isolated from a cosmid within the critical region has been used to isolate several overlapping cDNAs from a human embryonic library. Northern analysis using these cDNA clones identified a 5.2 kb transcript in all tissues examined. Sequence analysis revealed a 777 base pair open reading frame encoding a putative 258 amino acid protein. Using the exon-trapping method, fifty-four putative exons have been isolated from fourteen cosmids within the critical region. The expression patterns of the genes containing these exons are being analyzed by polymerase chain reaction (PCR) using reverse-transcribed mRNA from several human tissues and primers corresponding to the exon sequences. Using this approach in combination with exon connection, we determined the four of the trapped exons belong to the same cDNA transcript, which is expressed in adult retina, lymphoblast, skeletal muscle, and fetal brain. To date, we have isolated and sequenced 1 kilobase of this gene, all of which appears to be open reading frame. Both of the genes isolated from the critical region are being analyzed as possible candidates for MLS.

  8. Microphthalmia and linear skin defects (MLS) and focal dermal hypoplasia of Goltz (FDHG); Clinical cytogenetic, and molecular studies

    Energy Technology Data Exchange (ETDEWEB)

    Schnur, R.E.; Wick, P.A.; Louis, A. [Childrens Hospital of Philadelphia, PA (United States)

    1994-09-01

    MLS and FDHG syndromes have overlapping phenotypes, including linear skin defects or erosions that heal in cribiform patterns of atrophy and pigmentary change and asymmetric ocular defects. It has been postulated that MLS and FDHG phenotypes reflect changes in the same gene(s) as well as variable X-inactivation patterns. In order to explore this, we studied one new MLS and 2 FDHG patients at clinical, cytogenetic, and molecular levels. Phenotype comparison: We observed a greater variety and wider distribution of cutaneous lesions in FDHG. Only the MLS patient had microphthalmia and sclerocornea with other ocular changes. Skeletal lesions were seen in only one FDHG patient who also had additional problems. Cytogenetics: The MLS patient demonstrated a 46,XX,del(X)(p22) karyotype. We excluded a cryptic Y-translocation by FISH using a Y-chromosome paint. Both FDHG patients had 46,XX karyotypes. Molecular studies: For deletion analysis, somatic cell hybrids containing separated X homologues were made from EBV-transformed LBL lines of all 3 patients. Of 20 hybrids obtained from the MLS patient, only one contained the deleted X, but we recognize that a culture artifact may have occurred in LBL cells prior to fusion. There was also a suggestion of partial skewing of X-homologue representation in FDHG hybrids. The breakpoint for the MLS deletion, which arose on the paternally-derived homologue (by RFLPs), was between DXS16 and AMG; DXS70 and DXS85 were also deleted. This is consistent with reported breakpoints in other MLS patients. Neither FDHG patient was deleted at any of these loci. Our study provides a basis for additional testing in FDHG patients via somatic cell hybrids with new markers and candidate genes from the MLS critical region to confirm or negate the proposed mapping of FDHG to Xp22.3.

  9. An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.

    Science.gov (United States)

    Pantoja-Melendez, Carlos; Ali, Manir; Zenteno, Juan C

    2013-01-01

    To investigate the molecular epidemiological basis for the unusually high incidence of sclerocornea, aphakia, and microphthalmia in a village in the Tlaxcala province of central Mexico. A population census was performed in a village to identify all sclerocornea, aphakia, and microphthalmia cases. Molecular analysis of the previously identified Forkhead box protein E3 (FOXE3) mutation, c.292T>C (p.Y98H), was performed with PCR amplification and direct DNA sequencing. In addition, DNA from 405 randomly selected unaffected villagers was analyzed to establish the carrier frequency of the causal mutation. To identify the number of generations since the mutation arose in the village, 17 polymorphic markers distributed in a region of 6 Mb around the mutated locus were genotyped in the affected individuals, followed by DMLE software analysis to calculate mutation age. A total of 22 patients with sclerocornea, aphakia, and microphthalmia were identified in the village, rendering a disease prevalence of 2.52 cases per 1,000 habitants (1 in 397). The FOXE3 homozygous mutation was identified in all 17 affected subjects who consented to molecular analysis. Haplotype analysis indicated that the mutation arose 5.0-6.5 generations ago (approximately 106-138 years). Among the 405 unaffected villagers who were genotyped, ten heterozygote carriers were identified, yielding a population carrier frequency of approximately 1 in 40 and a predicted incidence of affected of 1 in 6,400 based on random marriages between two carriers in the village. This study demonstrates that a cluster of patients with sclerocornea, aphakia, and microphthalmia in a small Mexican village is due to a FOXE3 p.Y98H founder mutation that arose in the village just over a century ago at a time when a population migrated from a nearby village because of land disputes. The actual disease incidence is higher than the calculated predicted value and suggests non-random marriages (i.e., consanguinity) within the

  10. [Effects of local transplantation of autologous adipose-derived mesenchymal stem cells on the formation of hyperplastic scar on rabbit ears].

    Science.gov (United States)

    Chen, L; Wang, D L; Wei, Z R; Wang, B; Qi, J P; Sun, G F

    2016-10-20

    Objective: To investigate the effects of local transplantation of autologous adipose-derived mesenchymal stem cells (ADSCs) on the formation of hyperplastic scar on rabbit ears. Methods: ADSCs were isolated from inguinal fat of six New Zealand rabbits and then sub-cultured. ADSCs of the third passage of each rabbit were used in the following experiments. Six full-thickness skin defect wounds with diameter of 6 mm on the ventral surface of every rabbit ear were made. Wound healing and local-tissue proliferation were observed, and complete epithelization time of wounds and formation time of hyperplastic scar were recorded. The wounds on left ears were selected as group ADSCs, and the wounds on right ears were selected as control group, with 36 wounds in each group. After the complete epithelization of wounds (post injury day 25), 0.2 mL bromodeoxyuridine (BrdU) labeled autologous ADSCs with the concentration of 5×10(6) per milliliter were injected into each wound of the rabbit of group ADSCs, while the same amount of phosphate buffer solution was injected into each wound of the rabbit of control group. The frequency of injection was once every 5 days, totally for 3 times, and the latter 2 times were injected into scars generated from healed wound. Hyperplastic scars of rabbits of two groups were harvested on the fifth day after the third injection, then the morphology was observed by HE staining, and the arrangement of collagen in hyperplastic scar was observed by VG staining. The distribution of BrdU-labeled ADSCs in the hyperplastic scar was observed with fluorescence microscope. The protein content of type Ⅰ collagen, type Ⅲ collagen, transforming growth factor β1 (TGF-β1), and decorin in hyperplastic scar were detected by enzyme-linked immunosorbent assay, and the mRNA expression of decorin and TGF-β1 in hyperplastic scar were tested by real-time fluorescent quantitative reverse transcription-polymerase chain reaction. Data were processed with paired t

  11. 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

    was performed on Agilent whole human genome microarray 4 x 44 K chips. Microarray data pre-processing and statistical analysis were performed using the limma R/Bioconductor package in the R software, and differentially expressed genes were further analysed for gene set enrichment using the DAVID Bioinformatics......STUDY QUESTION: Do human adult Leydig cells (ALCs) within hyperplastic micronodules display characteristics of foetal LCs (FLCs)?SUMMARY ANSWER: The gene expression profiles of FLCs and all ALC subgroups were clearly different, but there were no significant differences in expressed genes between......-section).STUDY DESIGN, SIZE, DURATION: A genome-wide microarray study of LCs microdissected from human foetal and adult tissue samples (n = 12). Additional tissue specimens (n = 15) were used for validation of the mRNA expression data at the protein level.PARTICIPANTS/MATERIALS, SETTING, METHODS: Frozen human tissue...

  12. 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.)

  13. 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

  14. 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

  15. 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.

  16. Prognostic value of immunohistochemical surfactant protein A expression in regenerative/hyperplastic alveolar epithelial cells in idiopathic interstitial pneumonias

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    Kajiki Akira

    2011-03-01

    Full Text Available Abstract Background It is difficult to predict survival in patients with idiopathic pulmonary fibrosis. Recently, several proteins, such as surfactant protein (SP and KL-6, have been reported to be useful biologic markers for prediction of prognosis for interstitial pneumonias. It is not clear whether there is any relationship between expression of these proteins in regenerative/hyperplastic alveolar epithelial cells and prognosis of idiopathic interstitial pneumonias (IIPs. Objectives This study aimed to elucidate the clinical significance of the expression of such lung secretory proteins as SP-A and KL-6 in lung tissues of patients with IIPs. Methods We retrospectively investigated the immunohistochemical expression of SP-A, KL-6, cytokeratin (CK, and epithelial membrane antigen (EMA in alveolar epithelial cells in lung tissues obtained from surgical lung biopsy in 43 patients with IIPs, and analyzed the correlation between expression of these markers and the prognosis of each IIP patient. CK and EMA were used as general markers for epithelial cells. Results In patients with usual interstitial pneumonia (UIP, the ratio of SP-A positive epithelial cells to all alveolar epithelial cells (SP-A positive ratio in the collapsed and mural fibrosis areas varied, ranging from cases where almost all alveolar epithelial cells expressed SP-A to cases where only a few did. On the other hand, in many patients with nonspecific interstitial pneumonia (NSIP, many of the alveolar epithelial cells in the diseased areas expressed SP-A. The SP-A positive ratio was significantly lower in patients who died from progression of UIP than in patients with UIP who remained stable or deteriorated but did not die. In NSIP patients, a similar tendency was noted between the SP-A positive ratio and prognosis. Conclusions The results suggest that the paucity of immunohistochemical SP-A expression in alveolar epithelial cells in diseased areas (i.e. regenerative/hyperplastic

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

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    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

  18. Treatment of hyperplastic gonitis by manipulation of massage: 80 cases report%推拿手法治疗增生性膝关节炎80例

    Institute of Scientific and Technical Information of China (English)

    严祥松

    2003-01-01

    @@ BACKGROUND: Hyperplastic gonitis belongs to rheumatism involving the bone. According to traditional Chinese Medicine, knee is the government of tendons, where three Yang Channels and three Yin Channels of Foot converged. Liver is capable of storing blood, kidney is capable of nurturing bone, bone is capable of flexing and stretching, storing energy, and spleen controlls muscle and is the origin of blood generation. Deficiency of liver-yin and kidney-yin, deficiency of energy and blood, fatigue of tendon and bone will result in reduced working ability and hence hyperplastic gonitis. Manipulation of massage will remove obstruotion, relieve pain and nurture qi and blood by managing tendon and repairing, activating and removing stasis and dredging qi within channels of liver, stomach, spleen, and kidney.

  19. Genetics Home Reference: microphthalmia

    Science.gov (United States)

    ... J Ophthalmol. 2010 Aug;94(8):1100-4. doi: 10.1136/bjo.2009.173500. Epub 2010 May 21. Citation on PubMed Iseri SU, Wyatt AW, Nürnberg G, Kluck C, ... Hum Genet. 2010 Jul;128(1):51-60. doi: 10.1007/s00439-010-0823-6. Epub 2010 ...

  20. 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.

  1. 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 <272 pg/mL on the day after ablation was the best predictor for maintaining parathyroid hormone (PTH) levels in a reasonable range 1 year after ablation. RFA of hyperplastic parathyroid glands for treating secondary HPT is feasible in selected patients. © 2016 Wiley Periodicals, Inc. Head Neck 39: 564-571, 2017. © 2016 Wiley Periodicals, Inc.

  2. Mutation in the Drosophila melanogaster adenosine receptor gene selectively decreases the mosaic hyperplastic epithelial outgrowth rates in wts or dco heterozygous flies.

    Science.gov (United States)

    Sidorov, Roman; Kucerova, Lucie; Kiss, Istvan; Zurovec, Michal

    2015-03-01

    Adenosine (Ado) is a ubiquitous metabolite that plays a prominent role as a paracrine homeostatic signal of metabolic imbalance within tissues. It quickly responds to various stress stimuli by adjusting energy metabolism and influencing cell growth and survival. Ado is also released by dead or dying cells and is present at significant concentrations in solid tumors. Ado signaling is mediated by Ado receptors (AdoR) and proteins modulating its concentration, including nucleoside transporters and Ado deaminases. We examined the impact of genetic manipulations of three Drosophila genes involved in Ado signaling on the incidence of somatic mosaic clones formed by the loss of heterozygosity (LOH) of tumor suppressor and marker genes. We show here that genetic manipulations with the AdoR, equilibrative nucleoside transporter 2 (Ent2), and Ado deaminase growth factor-A (Adgf-A) cause dramatic changes in the frequency of hyperplastic outgrowth clones formed by LOH of the warts (wts) tumor suppressor, while they have almost no effect on control yellow (y) clones. In addition, the effect of AdoR is dose-sensitive and its overexpression leads to the increase in wts hyperplastic epithelial outgrowth rates. Consistently, the frequency of mosaic hyperplastic outgrowth clones generated by the LOH of another tumor suppressor, discs overgrown (dco), belonging to the wts signaling pathway is also dependent on AdoR. Our results provide interesting insight into the maintenance of tissue homeostasis at a cellular level.

  3. Relationship between the dimension of parathyroid glands estimated by ultrasonography and the hyperplastic pattern in patients with renal hyperparathyroidism.

    Science.gov (United States)

    Matsuoka, Susumu; Tominaga, Yoshihiro; Sato, Tetsuhiko; Uno, Nobuaki; Hiramitu, Takahisa; Goto, Norihiko; Nagasaka, Takaharu; Uchida, Kazuharu

    2008-10-01

    In renal hyperparathyroidism (HPT), the parathyroid glands initially proliferate diffusely and polyclonally, and are then transformed to monoclonal nodular hyperplasia with aggressive growth potential. In this study we evaluated the relationship between the maximal dimension of parathyroid glands estimated by ultrasonography (US) and the hyperplastic pattern of parathyroid glands in patients with renal HPT. Between October 1999 and December 2006, 141 patients who underwent total parathyroidectomy (PTx) with forearm autograft in our department were enrolled in this study. In these patients 308 parathyroid glands were detected by US before PTx. The largest dimension of the gland estimated preoperatively by US was correlated closely with its measurement at surgery (R2 was 0.31, P parathyroid hyperplasia and the glandular diameter when we defined 8 mm as the maximal diameter estimated by US as a cut-off value. As a result of receiver operating characteristic analyses, using these criteria the US technique could predict nodular hyperplasia with a high sensitivity (78.9%) and specificity (78.7%). Parathyroid glands that are enlarged by more than 8 mm in the largest dimension estimated by US may represent glands with nodular hyperplasia.

  4. 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.

  5. 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.

  6. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)

    Energy Technology Data Exchange (ETDEWEB)

    Schaefer, L.; Ballabio, A.; Zoghbi, H.Y. [Baylor College of Medicine, Houston, TX (United States)

    1996-06-01

    Microphthalmia with linear skin defects syndrome (MLS) is an X-linked male-lethal disorder associated with X chromosomal rearrangements resulting in monosomy from Xpter to Xp22. Features include microphthalmia, sclerocornea, linear skin defects, and agenesis of the corpus callosum. Using a cross-species conservation strategy, an expressed sequence from the 450- to the 550-kb MLS critical region on Xp22 was identified by screening a human embryo cDNA library. Northern analysis revealed a transcript of {approx}2.6 kb in all tissues examined, with weaker expression of {approx}1.2- and {approx}5.2-kb transcripts. The strongest expression was observed in heart and skeletal muscle. Sequence analysis of a 3-kb cDNA contig revealed an 807-bp open reading frame encoding a putative 268-amino-acid-protein. Comparison of the sequence with sequences in the databases revealed homology with holocytochrome c-type synthetases, which catalyze the covalent addition of a heme group onto c-type cytochromes in the mitochondria. The c-type cytochromes are required for proper functioning of the electron transport pathway. The human gene (HGMW-approved symbol HCCS) and the corresponding murine gene characterized in this paper are the first mammalian holocytochrome c-type synthetases to be described in the literature. Because of the lack of a neuromuscular phenotype in MLS, it is uncertain whether the deletion of a mitochondrial holocytochrome synthetase would contribute to the phenotype seen in MLS. The expression pattern of this gene and knowledge about the function of holocytochrome synthetases, however, suggest that it is a good candidate for X-linked encephalomyopathies typically associated with mitochondrial dysfunction. 25 refs., 4 figs.

  7. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

    Science.gov (United States)

    van Rahden, Vanessa A; Fernandez-Vizarra, Erika; Alawi, Malik; Brand, Kristina; Fellmann, Florence; Horn, Denise; Zeviani, Massimo; Kutsche, Kerstin

    2015-04-01

    Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea). Additional clinical features include neurological and cardiac abnormalities. MLS syndrome is genetically heterogeneous given that heterozygous mutations in HCCS or COX7B have been identified in MLS-affected females. Both genes encode proteins involved in the structure and function of complexes III and IV, which form the terminal segment of the mitochondrial respiratory chain (MRC). However, not all individuals with MLS syndrome carry a mutation in either HCCS or COX7B. The majority of MLS-affected females have severe skewing of X chromosome inactivation, suggesting that mutations in HCCS, COX7B, and other as-yet-unidentified X-linked gene(s) cause selective loss of cells in which the mutated X chromosome is active. By applying whole-exome sequencing and filtering for X-chromosomal variants, we identified a de novo nonsense mutation in NDUFB11 (Xp11.23) in one female individual and a heterozygous 1-bp deletion in a second individual, her asymptomatic mother, and an affected aborted fetus of the subject's mother. NDUFB11 encodes one of 30 poorly characterized supernumerary subunits of NADH:ubiquinone oxidoreductase, known as complex I (cI), the first and largest enzyme of the MRC. By shRNA-mediated NDUFB11 knockdown in HeLa cells, we demonstrate that NDUFB11 is essential for cI assembly and activity as well as cell growth and survival. These results demonstrate that X-linked genetic defects leading to the complete inactivation of complex I, III, or IV underlie MLS syndrome. Our data reveal an unexpected role of cI dysfunction in a developmental phenotype, further underscoring the existence of a group of mitochondrial diseases associated with neurocutaneous manifestations.

  8. 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.

  9. Hyperplastic epithelial lesions of the vocal folds: combined use of exfoliative cytology and laryngostroboscopy in differential diagnosis.

    Science.gov (United States)

    Gugatschka, M; Kiesler, K; Beham, A; Rechenmacher, J; Friedrich, G

    2008-07-01

    The mainstay of successful tumor therapy is early detection of neoplastic tissue. Although exfoliative cytology has proven to be a reliable tool, its importance is still underestimated. Laryngostroboscopy is the most important tool for functional investigation in laryngological and phoniatric diagnosis. Stroboscopic evaluation allows early detection of infiltrative processes of the vocal folds. Aim of our study was to demonstrate that combination of both, exfoliative cytology and stroboscopy, provides a highly sensitive and easy to perform method in differential diagnosis of epithelial hyperplastic lesions of the vocal folds. In 130 patients with varying degrees of vocal fold keratosis up to glottic cancer, preoperative layngostroboscopy was performed. Stroboscopy was classified pathological in case of reduced or abolished amplitude of vocal fold vibration and/or reduced or abolished mucosal wave propagation. Under general anaesthesia histology with corresponding cytological specimens were obtained. The latter were classified in three groups reaching from normal (I), dysplastic (II), up to malignant (III) cytology. Invasive carcinoma was diagnosed in 32 cases by histology, corresponding malignant cytology was found in 21 specimens (sensitivity: 74%). By certain combination of cytology with pathological stroboscopy, a sensitivity of more than 97% can be achieved. Combination of cytology and stroboscopy allows detection of glottic cancer with a sensitivity of 97%, in contrast to 74% as found by cytology alone. This combination can be used as preliminary or sorting procedure and gives the opportunity of early detection, as well as for follow-up examinations. For repeated biopsies can cause scars with consecutive voice impairment, this procedure is very smooth but nevertheless reliable method.

  10. Hyperplastic obesity and liver steatosis as long-term consequences of suboptimal in vitro culture of mouse embryos.

    Science.gov (United States)

    Serrano, Antonia; Decara, Juan M; Fernández-González, Raúl; López-Cardona, Angela P; Pavón, Francisco J; Orio, Laura; Alen, Francisco; Gutiérrez-Adán, Alfonso; de Fonseca, Fernando Rodríguez

    2014-08-01

    In the present study, we identify and describe an obese phenotype in mice as a long-term consequence of a suboptimal in vitro culture that resulted from the addition of fetal calf serum (FCS) into the culture medium. Mice produced with FCS displayed a high mortality rate (approximately 55% versus 15% in control mice within 20 mo) and increased sensitivity to the development of obesity in adulthood when fed either a standard or a high-fat diet. These mice developed hyperplastic obesity that was characterized by a significant expansion of the fat pads (approximately 25% and 32% higher body weight in male and female mice over controls, respectively) with unchanged adipocyte size. We observed a sexual dimorphism in the development of obesity in the mice produced with FCS. Whereas the female mice displayed hypertension, hyperleptinemia, and fatty liver, the male mice only displayed glucose intolerance. The mRNA expression of metabolically relevant genes in the adipose tissue was also affected. The males produced with FCS expressed higher mRNA levels of the genes that activate fatty acid oxidation (peroxisome proliferator-activated receptor alpha [Ppara, PPARalpha] and acyl-CoA oxidase 1 [Acox1, ACOX1]) and thermogenesis (uncoupling protein 1 [Ucp1, UCP1]), which may counteract the metabolic phenotype. Conversely, the females produced with FCS generally expressed lower levels of these metabolic genes. In the females, the obese phenotype was associated with inhibition of the lipogenic pathway (peroxisome proliferator-activated receptor gamma [Pparg, PPARgamma] and fatty acid synthase [Fasn, FAS]), indicating a saturation of the storage capacity of the adipose tissue. Overall, our data indicate that the exposure to suboptimal in vitro culture conditions can lead to the sexually dimorphic development of obesity in adulthood.

  11. Ultrasonographic and surgical findings of a gastric hyperplastic polyp resulting in pyloric obstruction in an 11-week-old French Bulldog.

    Science.gov (United States)

    Kuan, S; Hoffmann, K; Tisdall, P

    2009-06-01

    An 11-week-old male entire French Bulldog was presented with a 3-week history of projectile vomiting after eating that was unresponsive to medical therapy. Ultrasonographic examination revealed a 1 x 2 cm pedunculated polypoid mass in the pyloric antrum. Histopathology showed this to be comprised of a pedunculated hyperplastic proliferation of gastric mucosal epithelium and submucosa, with dilatation of the glandular pits and a moderate degree of submucosal fibrosis and small amount of smooth muscle hyperplasia in the submucosa. The tunica muscularis was not involved in the polyp and appeared to be of normal thickness. Surgical treatment by pylorectomy and end-to-end gastroduodenostomy (Billroth I) was successful.

  12. 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

    Full Text Available BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

  13. 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.

    Science.gov (United States)

    Lee, Shu-Mei; Chen, Yi-Shyan; Lin, Chih-Chien; Chen, Kuan-Hung

    2015-01-09

    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.

  14. 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.

  15. N-(4-bromophenethyl) Caffeamide Inhibits Melanogenesis by Regulating AKT/Glycogen Synthase Kinase 3 Beta/Microphthalmia-associated Transcription Factor and Tyrosinase-related Protein 1/Tyrosinase.

    Science.gov (United States)

    Kuo, Yueh-Hsiung; Chen, Chien-Chia; Lin, Ping; You, Ya-Jhen; Chiang, Hsiu-Mei

    2015-01-01

    Skin color is primarily produced by melanin, which is a crucial pigment that protects the skin from UV-induced damage and prevents carcinogenesis. However, accumulated melanin in the skin may cause hyperpigmentation and related disorders. Melanin synthesis comprises consecutive oxidative reactions, and tyrosinase is the enzyme that catalyzes the rate-limiting process of melanogenesis. In this study, tyrosinase-related protein 1 (TRP-1) and TRP-2 contributed to melanin formation. N-(4-bromophenethyl) caffeamide ((E)-N-(4-bromophenethyl)-3-(3,4-dihydroxyphenyl)acrylamide; K36H), a caffeic acid phenyl amide derivative, inhibited α-melanocyte-stimulating hormone (α-MSH)-induced melanogenesis and tyrosinase activity in B16F0 cells. In addition, K36H reduced the protein expression of the phospho-cAMP response element binding protein (p-CREB), microphthalmia-associated transcription factor (MITF), tyrosinase, and TRP-1. Moreover, K36H promoted AKT and glycogen synthase kinase 3 beta (GSK3β) phosphorylation, thereby inhibiting MITF transcription activity. Thus, K36H attenuated α-MSH-induced cAMP pathways, contributing to hypopigmentation. The results of a safety assay revealed that K36H did not exhibit cytotoxicity or irritate the skin or eyes. According to these results, K36H may have the potential to be used as a whitening agent in the cosmetic and pharmaceutical industries.

  16. 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.

  17. microRNA-155, induced by interleukin-1ß, represses the expression of microphthalmia-associated transcription factor (MITF-M in melanoma cells.

    Directory of Open Access Journals (Sweden)

    Nathalie Arts

    Full Text Available Loss of expression of surface antigens represents a significant problem for cancer immunotherapy. Microphthalmia-associated transcription factor (MITF-M regulates melanocyte fate by driving expression of many differentiation genes, whose protein products can be recognized by cytolytic T lymphocytes. We previously reported that interleukin-1ß (IL-1ß can downregulate MITF-M levels. Here we show that downregulation of MITF-M expression by IL-1ß was paralleled by an upregulation of miR-155 expression in four melanoma lines. We confirmed that miR-155 was able to target endogenous MITF-M in melanoma cells and demonstrated a role for miR-155 in the IL-1ß-induced repression of MITF-M by using an antagomiR. Notably, we also observed a strong negative correlation between MITF-M and miR-155 levels in a mouse model of melanoma. Taken together, our results indicate that MITF-M downregulation by inflammatory stimuli might be partly due to miR-155 upregulation. This could represent a novel mechanism of melanoma immune escape in an inflammatory microenvironment.

  18. Evaluation of microphthalmia associated transcription factor (MITF expression in peripheral blood of a population with malign melanoma and control population and cell lines

    Directory of Open Access Journals (Sweden)

    Nelson Rangel

    2009-03-01

    Full Text Available Background: The incidence of malign melanoma tumours has increased more rapidly than any other type of cancer; this has intensified the searching for tools that facilitate early detection of melanoma. Microphthalmia associated transcription factor (MITF is currently known as being a master melanocyte regulator. The article analyses MITF gene expression in peripheral blood of individuals suffering from melanoma, compared to people without any type of cancer and some cell lines.Materials and methods: Thirty one samples of peripheral blood were used: 19 from patients having melanoma and 12 from healthy people. Then RNA was extracted from these samples. MITF and housekeeping genes (b2M and GAPDH expression levels were then quantified by real-time PCR. Five cell lines were also used to determine the MITF expression.Results: MITF gene expression could be observed in all individuals, though no statistical significant differences were found among expression levels in the groups studied (p=0.09. Even so, MITF expression in the group of patients suffering from melanoma was much more variable than that observed in the group of cancer-free people. Expression was detected in the cell line AGS (gastric adenocarcinoma, not yet described.Conclusions: MITF gene expression levels were detected in the peripheral blood from both people suffering from melanoma and people without any type of cancer. However, variability in the number of molecules in MITF gene expression was observed in people with melanoma, this suggests the presence of tumour cells in circulation.

  19. Comparative genomics of marine cyanomyoviruses reveals the widespread occurrence of Synechococcus host genes localized to a hyperplastic region: implications for mechanisms of cyanophage evolution.

    Science.gov (United States)

    Millard, Andrew D; Zwirglmaier, Katrin; Downey, Mike J; Mann, Nicholas H; Scanlan, Dave J

    2009-09-01

    The vast majority of cyanophages isolated to date are cyanomyoviruses, a group related to bacteriophage T4. Comparative genome analysis of five cyanomyoviruses, including a newly sequenced cyanophage S-RSM4, revealed a 'core genome' of 64 genes, the majority of which are also found in other T4-like phages. Subsequent comparative genomic hybridization analysis using a pilot microarray showed that a number of 'host' genes are widespread in cyanomyovirus isolates. Furthermore, a hyperplastic region was identified between genes g15-g18, within a highly conserved structural gene module, which contained a variable number of inserted genes that lacked conservation in gene order. Several of these inserted genes were host-like and included ptoX, gnd, zwf and petE encoding plastoquinol terminal oxidase, 6-phosphogluconate dehydrogenase, glucose 6-phosphate dehydrogenase and plastocyanin respectively. Phylogenetic analyses suggest that these genes were acquired independently of each other, even though they have become localized within the same genomic region. This hyperplastic region contains no detectable sequence features that might be mechanistically involved with the acquisition of host-like genes, but does appear to be a site specifically associated with the acquisition process and may represent a novel facet of the evolution of marine cyanomyoviruses.

  20. Demographics of antibiotic persistence

    DEFF Research Database (Denmark)

    Steiner, Ulrich; Kollerova, Silvia; Jouvet, Lionel

    2016-01-01

    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...... cultures, rather than the individual level. Here, we used individual level bacteria data to confirm previous studies in how fast cells switch into a persistence stage, but our results challenge the fundamental idea that persistence comes with major costs of reduced growth (cell elongation) and division due...... even play a more prominent role for the evolution of resistance and failures of medical treatment by antibiotics as currently assumed....

  1. 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....

  2. General Introduction to Anophthalmia and Microphthalmia Therapies%小眼球无眼球致眶发育畸形研究与治疗

    Institute of Scientific and Technical Information of China (English)

    金鹤; 刘菁; 杨蓓蕾; 鲁玮瑗

    2012-01-01

    Congenital microphthalmia or anophthalmia are the rare disease. It might relate to gene and environment. At the clinical ophthalmology, due to the lack of effective eyeball stimulation, the growth of the orbit, eyelid, and maxillofacial in the sick side of children with anophthalmia or microphthalmia would lag behind the healthy side. If the effective intervention is not taken in the period of orbital-bone growth, it could cause severe facial malformations. It would have a bad impact on the beauty for sure. These children would suffer great negative effects cause by the deformity. How to dynamically take effective measures to stimulate the orbit in the sick side and let it grow along with the healthy side has long been a concerned problem in the clinic. During the fast development period of facial bone, putting inflatable tissue expander into the orbit is a good choice for the young children. It is able to reduce the number of operations. For adults and children above five years old, the size of the tissue expander could be fixed. In the process of tissue expander usage, many problems might appear, such as infection and exposure of the tissue expander. To solve these problems, many scientists are devoted to find the new material of tissue expander and operation method. The current domestic and foreign research and treatment progresses, especially during the period of children's orbital-bone growth, and the application status of orbital implant materials are summarized.%目前,眼科临床中常见儿童因一只眼为小眼球或无眼球,缺乏有效的眼球刺激,导致患者患侧眼眶、眼睑和颌面部发育较健侧迟滞.如不及时在发育期进行有效的早期干预,将导致严重的面部发育畸形,影响美观,给患者带来生理上和心理上的负面影响.目前,临床上常采用眶内植入义眼台方法,刺激患侧眶面部,从而达到患侧面部与正常面部同步发育的目标.由于不同年龄段儿童的眶面部骨骼发

  3. Cooperative antiproliferative signaling by aspirin and indole-3-carbinol targets microphthalmia-associated transcription factor gene expression and promoter activity in human melanoma cells.

    Science.gov (United States)

    Poindexter, Kevin M; Matthew, Susanne; Aronchik, Ida; Firestone, Gary L

    2016-04-01

    Antiproliferative signaling of combinations of the nonsteroidal anti-inflammatory drug acetylsalicylic acid (aspirin) and indole-3-carbinol (I3C), a natural indolecarbinol compound derived from cruciferous vegetables, was investigated in human melanoma cells. Melanoma cell lines with distinct mutational profiles were sensitive to different extents to the antiproliferative response of aspirin, with oncogenic BRAF-expressing G361 cells and wild-type BRAF-expressing SK-MEL-30 cells being the most responsive. I3C triggered a strong proliferative arrest of G361 melanoma cells and caused only a modest decrease in the proliferation of SK-MEL-30 cells. In both cell lines, combinations of aspirin and I3C cooperatively arrested cell proliferation and induced a G1 cell cycle arrest, and nearly ablated protein and transcript levels of the melanocyte master regulator microphthalmia-associated transcription factor isoform M (MITF-M). In melanoma cells transfected with a -333/+120-bp MITF-M promoter-luciferase reporter plasmid, treatment with aspirin and I3C cooperatively disrupted MITF-M promoter activity, which accounted for the loss of MITF-M gene products. Mutational analysis revealed that the aspirin required the LEF1 binding site, whereas I3C required the BRN2 binding site to mediate their combined and individual effects on MITF-M promoter activity. Consistent with LEF1 being a downstream effector of Wnt signaling, aspirin, but not I3C, downregulated protein levels of the Wnt co-receptor LDL receptor-related protein-6 and β-catenin and upregulated the β-catenin destruction complex component Axin. Taken together, our results demonstrate that aspirin-regulated Wnt signaling and I3C-targeted signaling pathways converge at distinct DNA elements in the MITF-M promoter to cooperatively disrupt MITF-M expression and melanoma cell proliferation.

  4. Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism and related phenotypes

    Directory of Open Access Journals (Sweden)

    Simpson Elizabeth M

    2007-07-01

    Full Text Available Abstract Background A disruption of sorting nexin 3 (SNX3 on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism and t(6;13(q21;q12 but no SNX3 mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene. In this work, SNX3 was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene NR2E1 may underlie MMEP and related phenotypes. Methods Mutation screening was performed in five patients: the t(6;13(q21;q12 MMEP patient, three additional patients with possible MMEP or a related phenotype, and one patient with oligodactyly, ulnar aplasia, and a t(6;7(q21;q31.2 translocation. We used sequencing to exclude SNX3 coding mutations in three patients not previously studied for this gene. To test the hypothesis that mutations in NR2E1 may contribute to MMEP or related phenotypes, we sequenced the entire coding region, complete 5' and 3' untranslated regions, consensus splice-sites, and evolutionarily conserved regions including core and proximal promoter in all five patients. Two-hundred and fifty control subjects were genotyped for any candidate mutation. Results We did not detect any synonymous nor nonsynonymous coding mutations of NR2E1 or SNX3. In one patient with possible MMEP, we identified a candidate regulatory mutation that has been reported previously in a patient with microcephaly but was not found in 250 control subjects examined here. Conclusion Our results do not support involvement of coding mutations in NR2E1 or SNX3 in MMEP or related phenotypes; however, we cannot exclude the possibility that regulatory NR2E1 or SNX3 mutations or deletions at this locus may underlie abnormal human cortical development in some patients.

  5. Metastasis of a pleural mesothelioma to a hyperplastic stomach polyp: an increase of vimentin expression is seen during a gain in deciduoid morphology

    Directory of Open Access Journals (Sweden)

    Alex Soltermann

    2011-12-01

    Full Text Available Deciduoid mesothelioma is a rare variant of the epithelioid histotype spectrum, resembling decidua of gravid uterus. It is found in the peritoneum of young women, but also in the pleura of elderly people. Histotype plasticity from epithelioid to sarcomatoid mesothelioma may be considered as epithelial-mesenchymal transition (EMT. A full autopsy was performed and mesothelioma infiltrates were analysed by immunohistochemistry. The metastasis of an epithelioid pleural mesothelioma to a hyperplastic polyp of the stomach is presented in this autopsy case. Deciduoid morphology increased during tumour progression and metastasis. The increase in eosinophilic cytoplasm correlated with the upregulation of the intermediate filament vimentin. High expression of vimentin was found in both central and superficial periglandular regions of the polyp. High vimentin expression also can occur in epithelioid rather than sarcomatoid differentiation. Thus, although vimentin is considered to be the major EMT marker, additional pathways must regulate its expression.

  6. Is Inflation Persistence Over?

    Directory of Open Access Journals (Sweden)

    Fernando N. de Oliveira

    2014-09-01

    Full Text Available We analyze inflation persistence in several industrial and emerging countries in the recent past by implementing unit root tests in the presence of unknown structural breaks and by estimating reduced-form models of inflation dynamics. We select a very representative group of 23 industrial and 17 emerging economies. Our sample period is comprised of quarterly data and differs for each country. Our results indicate that inflation persistence is decreasing over time for the great majority of industrial economies. Many emerging economies, however, show increasing persistence and even a few have highly persistent inflationary processes. We also observe structural breaks in all inflation processes we study with the exception of the inflation processes of Germany and Austria. Our results are robust to different reduced forms of the inflation processes and different econometric techniques.

  7. Glyphosate persistence in seawater.

    Science.gov (United States)

    Mercurio, Philip; Flores, Florita; Mueller, Jochen F; Carter, Steve; Negri, Andrew P

    2014-08-30

    Glyphosate is one of the most widely applied herbicides globally but its persistence in seawater has not been reported. Here we quantify the biodegradation of glyphosate using standard "simulation" flask tests with native bacterial populations and coastal seawater from the Great Barrier Reef. The half-life for glyphosate at 25 °C in low-light was 47 days, extending to 267 days in the dark at 25 °C and 315 days in the dark at 31 °C, which is the longest persistence reported for this herbicide. AMPA, the microbial transformation product of glyphosate, was detected under all conditions, confirming that degradation was mediated by the native microbial community. This study demonstrates glyphosate is moderately persistent in the marine water under low light conditions and is highly persistent in the dark. Little degradation would be expected during flood plumes in the tropics, which could potentially deliver dissolved and sediment-bound glyphosate far from shore.

  8. 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

  9. Persistence and financial markets

    Science.gov (United States)

    Jain, S.

    2007-09-01

    The persistence phenomenon is studied in a financial context by using a novel mapping of the time evolution of the values of shares in a portfolio onto Ising spins. The method is applied to historical data from the London Financial Times Stock Exchange 100 index (FTSE 100) over an arbitrarily chosen period. By following the time dependence of the spins, we find evidence for a power law decay of the proportion of shares that remain either above or below their ‘starting’ values. As a result, we estimate a persistence exponent for the underlying financial market to be ≈0.5. Preliminary results from computer simulations on persistence in the economic dynamics of a toy model appear to reproduce the behaviour observed in real markets.

  10. Why do delusions persist?

    Directory of Open Access Journals (Sweden)

    Philip R Corlett

    2009-07-01

    Full Text Available Delusions are bizarre and distressing beliefs that characterize certain mental illnesses. They arise without clear reasons and are remarkably persistent. Recent models of delusions, drawing on a neuroscientific understanding of learning, focus on how delusions might emerge from abnormal experience. We believe that these models can be extended to help us understand why delusions persist. We consider prediction error, the mismatch between expectancy and experience, to be central. Surprising events demand a change in our expectancies. This involves making what we have learned labile, updating and binding the memory anew: a process of memory reconsolidation. We argue that, under the influence of excessive prediction error, delusional beliefs are repeatedly reconsolidated, strengthening them so that they persist, apparently impervious to contradiction.

  11. Visual persistence and cinema?

    Science.gov (United States)

    Galifret, Yves

    2006-01-01

    In Faraday and Plateau's days, both apparent motion and the fusion of intermittent lights, two phenomena that are hardly connected, were explained by retinal persistence. The works of Exner and of the 'Gestalt' psychologists, as well as the modern works on 'sampled' motion and smooth motion, disregarded retinal persistence. One tried, originally, to measure this persistence using intermittent stimulation, but under the pressure of practical concern, what was established in 1902 was the logarithmic relation between fusion frequency and the intensity of the stimulation. One had to wait until the 1950s for the use of harmonic analysis to finally allow a renewal in which many problems that, for decades, had only given rise to discussions that led nowhere and to groundless assertions, were correctly stated and easily solved. To cite this article: Y. Galifret, C. R. Biologies 329 (2006).

  12. Financial Markets and Persistence

    CERN Document Server

    Jain, S

    2005-01-01

    Persistence is studied in a financial context by mapping the time evolution of the values of the shares quoted on the London Financial Times Stock Exchange 100 index (FTSE 100) onto Ising spins. By following the time dependence of the spins, we find evidence for power law decay of the proportion of shares that remain either above or below their ` starting\\rq values. As a result, we estimate a persistence exponent for the underlying financial market to be $\\theta_f\\sim 0.5$.

  13. Persistence in financial markets

    Science.gov (United States)

    Jain, S.; Buckley, P.

    2006-03-01

    Persistence is studied in a financial context by mapping the time evolution of the values of the shares quoted on the London Financial Times Stock Exchange 100 index (FTSE 100) onto Ising spins. By following the time dependence of the spins, we find evidence for power law decay of the proportion of shares that remain either above or below their 'starting' values. As a result, we estimate a persistence exponent for the underlying financial market to be θf˜0.5.

  14. PERSISTENT LEFT SUPERIOR VENACAVA

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    Devinder Singh

    2014-05-01

    Full Text Available A Persistent Left Superior Venacava (PLSVC is the most common variation of the thoracic venous system and rare congenital vascular anomaly and is prevalent in 0.3% of the population. It may be associated with other cardiovascular abnormalities including atrial septal defect, bicuspid aortic valve, coarctation of aorta, coronary sinus ostial atresia, and cor triatriatum. Incidental rotation of a dilated coronary sinus on echocardiography should raise the suspicion of PLSVC. The diagnosis should be confirmed by saline contrast echocardiography. Condition is usually asymptomatic. Here we present a rare case of persistent left superior vena cava presented in OPD with dyspnoea & palpitations.

  15. Expressions of PGDS and PGES in hyperplastic scar%PGDS 和 PGES 在增生性瘢痕中的表达

    Institute of Scientific and Technical Information of China (English)

    沈晓洁; 袁志坚; 周梅芳; 何文涓; 沈惠亮

    2015-01-01

    Objective To investigate the expressions of prostaglandin D synthase (PGDS ) and prostaglandin E synthase (PGES ) in hyperplastic scar tissues .Methods According to different times of cicatrization ,47 patients were divided into six groups of A1 (5 h-2 d after burn ,9 cases) , A2(1 month after cicatrization ,9 cases) ,A3(3 months after cicatrization ,9 cases) ,A4(6 months after cicatrization ,8 cases ) ,A5 (12 months after cicatrization ,6 cases ) and A6 (24 months after cicatrization ,6 cases) .The normal skin tissue was taken as the control(group B ,10 cases) .The protein expressions of PGDS and PGES were detected by Western blot and immunohistochemical staining . Results Compared with group B ,the protein expressions and positive rates of PGDS and PGES were increasedin groups of A1,A2,A3,A4 and A5(P0 .05) .Conclusion Prosta-glandin may be an important mediator of hyperplastic scar .%目的 研究前列腺素D合成酶(PGDS)和前列腺素E合成酶(PGES)在增生性瘢痕组织中的表达.方法 根据瘢痕形成时间 ,将47例患者分为烧伤早期组(A1组 ,9例)以及瘢痕形成后1个月(A2组 ,9例)、3个月(A3组 ,9例)、6个月(A4组 ,8例)、12个月(A5组 ,6例)和24个月组(A6组 ,6例);另设正常皮肤组织的对照组(B组 ,10例).采用Western blot和免疫组化染色法检测各组PGDS、PGES蛋白表达.结果 与B组相比 ,A1、A2、A3、A4、A5组PGDS和PGES蛋白表达及阳性表达率均升高(P0 .05).结论 前列腺素可能是与增生性瘢痕形成有关的重要介质.

  16. The Persistence of PCBs.

    Science.gov (United States)

    Boyle, Robert H.; Highland, Joseph H.

    1979-01-01

    PCB's are one of the most persistent chemicals ever introduced into the environment by man. From very early in their history of manufacture PCB's were suspected of being hazardous to health, but public awareness of the hazard was slow in coming. (RE)

  17. Introduction: Persistent Modelling

    DEFF Research Database (Denmark)

    Ayres, Phil

    2012-01-01

    , 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...

  18. Is corruption really persistent?

    NARCIS (Netherlands)

    Seldadyo, H.; de Haan, J.

    2011-01-01

    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 m

  19. Chilly Ties Persist

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Sino-Japanese relations seem unlikely to improve under the leadership of Shinzo Abe The deteriorating state of relations between China and Japan may persist under the government of Shinzo Abe, who won the presidential election of the ruling Liberal Democratic Party (LDP) on September 20 and was

  20. 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.

  1. 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.

  2. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete

    2016-01-01

    , 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......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...

  3. Computing multidimensional persistence

    Directory of Open Access Journals (Sweden)

    Gunnar Carlsson

    2010-11-01

    Full Text Available The theory of multidimensional persistence captures the topology of a multifiltration - a multiparameter family of increasing spaces.  Multifiltrations arise naturally in the topological analysis of scientific data.  In this paper, we give a polynomial time algorithm for computing multidimensional persistence.  We recast this computation as a problem within computational commutative algebra and utilize algorithms from this area to solve it.  While the resulting problem is EXPSPACE-complete and the standard algorithms take doubly-exponential time, we exploit the structure inherent withing multifiltrations to yield practical algorithms.  We implement all algorithms in the paper and provide statistical experiments to demonstrate their feasibility.

  4. Persistent facial pain conditions

    DEFF Research Database (Denmark)

    Forssell, Heli; Alstergren, Per; Bakke, Merete

    2016-01-01

    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......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......, 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...

  5. 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.

  6. 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.

  7. Persistent benign pleural effusion.

    Science.gov (United States)

    Porcel, J M

    In this narrative review we describe the main aetiologies, clinical characteristics and treatment for patients with benign pleural effusion that characteristically persists over time: chylothorax and cholesterol effusions, nonexpansible lung, rheumatoid pleural effusion, tuberculous empyema, benign asbestos pleural effusion and yellow nail syndrome. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  8. 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....

  9. Hispolon Decreases Melanin Production and Induces Apoptosis in Melanoma Cells through the Downregulation of Tyrosinase and Microphthalmia-Associated Transcription Factor (MITF Expressions and the Activation of Caspase-3, -8 and -9

    Directory of Open Access Journals (Sweden)

    Yi-Shyan Chen

    2014-01-01

    Full Text Available Hispolon is one of the most important functional compounds that forms Phellinus linteus (Berkeley & Curtis Teng. Hispolon has antioxidant, anti-inflammatory, antiproliferative and anticancer effects. In this study, we analyzed the functions of hispolon on melanogenesis and apoptosis in B16-F10 melanoma cells. The results demonstrated that hispolon is not an enzymatic inhibitor for tyrosinase; rather, it represses the expression of tyrosinase and the microphthalmia-associated transcription factor (MITF to reduce the production of melanin in α-melanocyte-stimulating hormone (α-MSH-stimulated B16-F10 cells at lower concentrations (less than 2 μM. In contrast, at higher concentration (greater than 10 μM, hispolon can induce activity of caspase-3, -8 and -9 to trigger apoptosis of B16-F10 cells but not of Detroit 551 normal fibroblast cells. Therefore, we suggest that hispolon has the potential to treat hyperpigmentation diseases and melanoma skin cancer in the future.

  10. Research advance in tumors associated with microphthalmia-associated transcription factor gene family%小眼畸形转录因子基因家族相关肿瘤的分子病理研究进展

    Institute of Scientific and Technical Information of China (English)

    饶秋; 周晓军

    2011-01-01

    @@ 小眼畸形转录因子(microphthalmia-associated transcription factor,MiTF)位于3号染色体短臂(3p),是一种具有基本螺旋-环-螺旋-亮氨酸拉链(bHLHZip)结构的转录因子[1].研究表明MiTF在结构上与TFE3、TFEB和TFEC最接近.它们具有相似的DNA结合区域,即具有"CA[C/T]GTG"核心结构的DNA区域,并通过该结构与特异的DNA结构相结合,调控体内多种基因表达[1].

  11. 重组人血管内皮抑制素可抑制兔耳增生性瘢痕%Recombinant human vascular endostatin inhibits hyperplastic scar of rabbit ears

    Institute of Scientific and Technical Information of China (English)

    王棚; 薛斌; 江黎珠; 雷彬; 宋鹏宇; 丁云鹏; 李晶; 蒋娟

    2011-01-01

    BACKGROUND: Current treatments of hyperplastic scar are poor and limited, so it is necessary to seek a new effective drug to treat the hyperplastic scar.OBJECTIVE: To investigate the effect of recombinant human endostatin injection on hyperplastic scars of New Zealand big-eared rabbit ears.METHODS: 16 New Zealand big-eared rabbit were used to establish hyperplastic scar animal models and then the rabbits were randomly divided into an experimental group and a control group with 8 rabbits in each group. After epithelialization of rabbit ear wound, rabbits in the experimental group were injected with recombinant human endostatin, and those in the control group were injected with physiological saline. After 30 days, changes in hyperplastic scar were observed and hematoxylin-eosin staining was performed to investigate the expression of vascular endothelial growth factor in the scar tissue by immunohistochemisty. RESULTS AND CONCLUSION: At 30 days after intervention, the scar tissue color became weaker, texture was softer, and scar thickness was thinner in the experimental group than in the control group. Hematoxylin-eosin staining showed that compared with the control group, dermis was thinner, fibroblasts in unit area were fewer, exhibiting a parallel arrangement, and capillary caliber was smaller in the experimental group. The hyperplastic scar index was significantly lower in the experimental group than in the control group (P < 0.01). Vascular endothelial growth factor positive expression in the experimental group was significantly lower than that in the control group (P < 0.01). These findings suggest that recombinant human endostatin injection maybe a better choice for treating hyperplastic scar by decreasing vascular endothelial growth factor protein expression.%背景:增生性瘢痕局部血流量明显增高,微血管密度明显高于萎缩期及成熟的正常瘢痕.目的:观察重组人血管内皮抑制素对新西兰大耳兔兔耳增生性瘢痕的抑

  12. Poverty persistence and poverty dynamics

    OpenAIRE

    Biewen, Martin

    2014-01-01

    A considerable part of the poverty that is measured in a single period is transitory rather than persistent. In most countries, only a portion of people who are currently poor are persistently poor. People who are persistently poor or who cycle into and out of poverty should be the main focus of anti-poverty policies. Understanding the characteristics of the persistently poor, and the circumstances and mechanisms associated with entry into and exit from poverty, can help to inform governments...

  13. Persistence probabilities \\& exponents

    CERN Document Server

    Aurzada, Frank

    2012-01-01

    This article deals with the asymptotic behaviour as $t\\to +\\infty$ of the survival function $P[T > t],$ where $T$ is the first passage time above a non negative level of a random process starting from zero. In many cases of physical significance, the behaviour is of the type $P[T > t]=t^{-\\theta + o(1)}$ for a known or unknown positive parameter $\\theta$ which is called a persistence exponent. The problem is well understood for random walks or L\\'evy processes but becomes more difficult for integrals of such processes, which are more related to physics. We survey recent results and open problems in this field.

  14. Persistent BioPerl

    OpenAIRE

    Hilmar Lapp

    2007-01-01

    I present BioSQL, a generic and highly extensible relational model for storing biological sequences, sequence clusters, genes, sequence features, sequence and feature annotation, and ontology terms. BioSQL also represents the interoperable persistence API among the Bio* life science programming toolkits (BioPerl, Biojava, Biopython, BioRuby), each of which has a language-binding to the BioSQL schema. I specifically present the Bioperl-db software, which in a transparent manner makes BioPerl o...

  15. 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.

  16. Inflation Targeting and Inflation Persistence

    Institute of Scientific and Technical Information of China (English)

    GEORGE; J.BRATSIOTIS; JAKOB; MADSEN; CHRISTOPHER; MARTIN

    2015-01-01

    This paper argues that the adoption of an inflation target reduces the persistence of inflation.We develop the theoretical literature on inflation persistence by introducing a Taylor Rule for monetary policy into a model of persistence and showing that inflation targets reduce inflation persistence.We investigate changes in the time series properties of inflation in seven countries that introduced inflation targets in the late 1980s or early 1990s.We find that the persistence of inflation is greatly reduced or eliminated following the introduction of inflation targets.

  17. Molecular mechanisms underlying bacterial persisters

    DEFF Research Database (Denmark)

    Maisonneuve, Etienne; Gerdes, Kenn

    2014-01-01

    All bacteria form persisters, cells that are multidrug tolerant and therefore able to survive antibiotic treatment. Due to the low frequencies of persisters in growing bacterial cultures and the complex underlying molecular mechanisms, the phenomenon has been challenging to study. However, recent...... technological advances in microfluidics and reporter genes have improved this scenario. Here, we summarize recent progress in the field, revealing the ubiquitous bacterial stress alarmone ppGpp as an emerging central regulator of multidrug tolerance and persistence, both in stochastically and environmentally...... induced persistence. In several different organisms, toxin-antitoxin modules function as effectors of ppGpp-induced persistence....

  18. 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.

  19. Bacterial persistence: a winning strategy?

    CERN Document Server

    Schinazi, Rinaldo B

    2011-01-01

    It has long been known that antibiotic treatment will not completely kill off a bacteria population. For many species a small fraction of bacteria is not sensitive to antibiotics. These bacteria are said to persist. Recently it has been shown that persistence is not a permanent state and that in fact a bacterium can switch back and forth between persistent and non persistent states. We introduce two stochastic models for bacteria persistence. In both models there are mass killings of non persistent bacteria at certain times. The first model has deterministic killing times and the second one has random killing times. Both models suggest that persistence may be a successful strategy for a wide range of parameter values.

  20. Clinical efficacy of expanding flap for large hyperplastic scar on scalp%扩张皮瓣治疗头皮增生性瘢痕的临床效果

    Institute of Scientific and Technical Information of China (English)

    王伟; 翟晓梅

    2015-01-01

    Objective To observe the efficacy and safety of implantation of tissue expanders for large hyperplastic scar on scalp.Methods Between June 2011 and April 2013,a total of 23 patients with large hyperplastic scar received treatment with 31 tissue expanders.The scar size varied from 5.5 cm × 4.0 cm to 17.5 cm ×9.5 cm.The capacity was 50-400 ml for expanders,with the shape of kidney or ellipse.After tissue expansion for 6 to 8 weeks,the expander was removed and hyperplastic scars were resected,followed by the repair of defect with expanded flaps.Further more,the patients received postoperative superficial isotope irradiation after the surgery.Follow-up varied from 6 to 12 months.Results Thirty expanders,except l expander pocket that was removed ahead of time due to infection,were implanted successfully during the whole course of treatment.The main complication was expander exposure in 4 patients,which showed no significant influence on secondary surgery.Twenty patients reported relief of symptoms and achieved satisfactory outcomes,while 3 patients showed great suture tension and experienced delayed stitch removal,followed by the recurrence of hyperplastic scar after the operation.Conclusions The implantation of tissue expanders under the scalp skin is an ideal treatment option for large hyperplastic scar on scalp.Regional suture tension is a direct contributor to the recurrence of hyperplastic scar formation after surgical excision.%目的 探讨扩张皮瓣治疗头皮大面积增生性瘢痕的临床效果.方法 2011年6月至2013年4月,共收治头皮大面积增生性瘢痕患者23例,瘢痕面积最大17.5 cm×9.5 cm,最小5.5 cm×4.0 cm.共埋置31个扩张器,扩张器容量50~400 ml.视瘢痕形状选择肾形或椭圆形扩张器.经6~8周注水扩张后,行增生性瘢痕切除、扩张器取出和扩张皮瓣转移术.术后行放射性核素局部照射治疗,随访6~12个月.结果 除1个扩张器瘢痕下埋置后

  1. 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.

  2. 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.

  3. 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...... and debilitating impairment in the aftermath of BCS, GHR, and LCS. Data across the three surgical procedures indicate a 35-65 % decrease in prevalence of PPP at 4-6 years follow-up. However, this is outweighed by late-onset PPP, which appears following a pain-free interval. The consequences of PPP include severe...... impairments of physical, psychological, and socioeconomic aspects of life. The pathophysiology underlying PPP consists of a continuing inflammatory response, a neuropathic component, and/or a late reinstatement of postsurgical inflammatory pain. While the sensory profiles of PPP-patients and pain...

  4. Persistent Temporal Streams

    Science.gov (United States)

    Hilley, David; Ramachandran, Umakishore

    Distributed continuous live stream analysis applications are increasingly common. Video-based surveillance, emergency response, disaster recovery, and critical infrastructure protection are all examples of such applications. They are characterized by a variety of high- and low-bandwidth streams as well as a need for analyzing both live and archived streams. We present a system called Persistent Temporal Streams (PTS) that supports a higher-level, domain-targeted programming abstraction for such applications. PTS provides a simple but expressive stream abstraction encompassing transport, manipulation and storage of streaming data. In this paper, we present a system architecture for implementing PTS. We provide an experimental evaluation which shows the system-level primitives can be implemented in a lightweight and high-performance manner, and an application-based evaluation designed to show that a representative high-bandwidth stream analysis application can be implemented relatively simply and with good performance.

  5. 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.

  6. 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.

  7. Expression of transient receptor potential vanilloid-1 in hyperplastic scar and its significance%增生性瘢痕瞬时受体电位通道香草醛亚型-1的表达及其意义

    Institute of Scientific and Technical Information of China (English)

    柯昌能; 郭小宝; 刘坡; 陈杰明

    2015-01-01

    Objective To explore the expression of transient receptor potential vanilloid-1(TRPV1) in hyperplastic scar and its significance.Methods Thirty-two patients with burns were assessed using Improved Vancouver Scar Scale, and the scar itch severity assessment was performed.Samples of hyperplastic scar and the adjacent normal skin were collected from all patients.Expressions of TRPV1 in hyperplastic scar and the adjacent normal skin were detected by immunohistochemistry,Western Blot and real-time quantitative PCR ,respectively.The relationship of TRPV1 expression with scar score or scar itch severity was analyzed.Results TRPV1 was mainly expressed in the epidermis of hyperplastic scar and normal skin.The expressions of TRPV1 protein and mRNA in hyperplastic scar were significantly higher than those in normal skin(P0.05),but positively correlated with the scar vascular score,thickness score and itch severity (P0.05),但与瘢痕血管评分、厚度评分、瘙痒程度呈正相关(P<0.05). 结论 增生性瘢痕TRPV1的表达增强,可作为临床干预瘢痕的作用靶点.

  8. 不同波形电针对抑制兔耳增生性瘢痕的作用研究%The effect of different waveform electric acupuncture on inhibiting hyperplastic scar on the the rabbit ear

    Institute of Scientific and Technical Information of China (English)

    石慧; 尹荣超; 董英

    2015-01-01

    目的:探究不同波形电针对抑制兔耳增生性瘢痕形成的影响。方法将雄性兔18只随机分为对照组、电针A组(连续波)、电针B组(断续波)。双侧兔耳腹侧面造成创面以形成瘢痕组织,采用不同波形电针治疗30天,观察瘢痕增生情况,测定瘢痕增生指数。结果电针A、B组瘢痕增生指数与对照组存在显著差异,且电针B组瘢痕增生指数优于电针A组,HE染色光镜下可见胶原纤维组织排列整齐度增加及胶原纤维组织含量降低。结论电针治疗可抑制兔耳增生性瘢痕,断续波疗效优于连续波。%Objective To explore the effect of electric acupuncture on inhibiting the process of hyperplastic scar formation on the rabbit ear .Methods 18 New ZeaIand rabbits were randomly divided into model group ,electric acupuncture group A (con‐tinuous waves) and electric acupuncture group B (coherent waves) .All the groups were given external manufacturing wound to produce scar tissue inside the rabbit ears and different waveform impulse current in 30 days .The hyperplastic scar formations of rabbit ears were observed ,and scar proliferation index of hyperplastic scar were determinated .Results scar proliferation in‐dexes of electric acupuncture group A & B were obviously different from model group .Scar proliferation indexes of electric ac‐upuncture group B was better than group A ,HE staining under light microscope showed increased array uniformity of fibrous tissue and reduced fibre content .Conclusion Electric acupuncture could inhibit the hyperplastic scar formation of rabbit ears , particularly the coherent waves group had a better effect than the continuous waves group .

  9. 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

  10. Pathways of Student Persistence at RSC (Includes Persistence of Matriculants).

    Science.gov (United States)

    Fredericksen, Marlene

    In 1991, a study was conducted of semester-to-semester persistence patterns at Rancho Santiago College (RSC). The study involved tracking the attendance patterns of all RSC students entering as new students in fall 1983 and each subsequent fall until 1990; and comparing the persistence rates of matriculated and non-matriculated students in the…

  11. Management of persistent vaginitis.

    Science.gov (United States)

    Nyirjesy, Paul

    2014-12-01

    With vaginitis remaining a common condition that leads women to seek care, it is not surprising that some women develop chronic vulvovaginal problems that are difficult to diagnose and treat. With a differential diagnosis that encompasses vulvar disorders and infectious and noninfectious causes of vaginitis, accurate diagnosis is the cornerstone of choosing effective therapy. Evaluation should include a symptom-specific history, careful vulvar and vaginal examination, and office-based tests (vaginal pH, amine test, saline and 10% potassium hydroxide microscopy). Ancillary tests, especially yeast culture with speciation, are frequently crucial to obtaining a correct diagnosis. A heavy but normal physiologic discharge can be determined by excluding other causes. With vulvovaginal candidiasis, differentiating between Candida albicans and non-albicans Candida infection has important treatment ramifications. Most patients with C albicans infections can be successfully treated with maintenance antifungal therapy, usually with fluconazole. Although many non-albicans Candida, particularly Candida glabrata, may at times be innocent bystanders, vaginal boric acid therapy is an effective first choice for many true non-albicans Candida infections. Recurrent bacterial vaginosis, a difficult therapeutic challenge, can often be controlled with maintenance therapy. Multiple options, especially high-dose tinidazole, have been used for metronidazole-resistant trichomoniasis. With the aging of the U.S. population, atrophic vaginitis and desquamative inflammatory vaginitis, both associated with hypoestrogenism, are encountered frequently in women with persistent vaginitis.

  12. Metabolic aspects of bacterial persisters

    Directory of Open Access Journals (Sweden)

    Marcel ePrax

    2014-10-01

    Full Text Available Persister cells form a multi-drug tolerant subpopulation within an isogenic culture of bacteria that are genetically susceptible to antibiotics. Studies with different Gram negative and Gram positive bacteria have identified a large number of genes associated with the persister state. In contrast, the revelation of persister metabolism has only been addressed recently. We here summarize metabolic aspects of persisters, which includes an overview about the bifunctional role of selected carbohydrates as both triggers for the exit from the drug tolerant state and metabolites which persisters feed on. Also alarmones as indicators for starvation have been shown to influence persister levels via different signaling cascades involving the activation of toxin-antitoxin systems and other regulatory factors. Finally, recent data obtained by 13C-isotopologue profiling demonstrated an active amino acid anabolism in Staphylococcus aureus cultures challenged with high drug concentrations. Understanding the metabolism of persister cells poses challenges but also paves the way for the development of anti-persister compounds.

  13. THE PERSISTENCE OF INSURERS PROFITABILITY

    Directory of Open Access Journals (Sweden)

    Maja Pervan

    2013-02-01

    Full Text Available Most of the academic researches have analyzed the persistence of profit for the manufacturing and (non-financial services sector. These studies were mainly conducted in advance market economies. In order to shed some light on the issue of persistence in corporate rates of return, this research aims to examine the persistence of profitability of financial entities i.e. non-life insurance companies operating in an emerging market economy, Croatia. In order to determine persistence of insurers’ profitability, a Markov Chains stochastic process is applied on the profitability classes that were formulated based on the changes of insurers’ ROA (return on assets indicator during the period from 2002 to 2011. The empirical results showed that profit persistence was more likely to occur within moderate profit classes/states.

  14. Molecular markers of cancer in cartilaginous fish: immunocytochemical study of PCNA, p-53, myc and ras expression in neoplastic and hyperplastic tissues from free ranging blue sharks, Prionace glauca (L.).

    Science.gov (United States)

    Borucinska, J D; Schmidt, B; Tolisano, J; Woodward, D

    2008-02-01

    Archival formalin-fixed tissues from wild-caught adult blue sharks, Prionace glauca (L.), were used for immunocytochemical detection of proliferating cell nuclear antigen (PCNA), two oncoproteins from the oncogenes c-myc and pan-ras, and a protein product from the tumour suppressor gene p-53. All sharks were caught during summer months between 2000 and 2006 by recreational fishermen off the USA coast in the northwestern Atlantic. The sharks were necropsied on landing and selected organ samples were collected into elasmobranch formalin and processed for paraffin embedding and light microscopy. Paraffin-embedded sections from collected tissue were both stained with haematoxylin and eosin and processed by immunocytochemical techniques using antibodies raised against the PCNA, p-ras, c-myc and p-53 proteins. The lesions examined in this study included two well differentiated adenomatous gastric polyps, a testicular capsular mesothelioma, a gingival fibropapilloma with elements of ameloblastoma, three liver tumours, two pericardial fibropapillomas and six cases of proliferative serositis (pericarditis and peritonitis). Normal and hyperplastic tissues from blue sharks, and human neoplastic tissues served as negative and positive controls, respectively. We detected upregulation of PCNA in many neoplastic, one dysplastic and in some hyperplastic lesions, and positive p-ras and c-myc signals in some of the neoplastic lesions. None of the examined tissues showed positive p-53 signalling. This is the first literature report on immunocytochemical detection of molecular markers of cancer in sharks and in fish of the class Chondrichthyes.

  15. DİFENİLHİDANTOİN İLE OLUŞAN HİPERPLASTÎK DİŞETLERİNDE SEROTONİN (5-HT) DÜZEYİ-THE LEVEL OF SEROTONIN (5-HT) IN DIPHENYLHYDANTOIN-INDUCED HYPERPLASTIC GINGIVA

    OpenAIRE

    2013-01-01

    ÖZETBu çalışmada difenilhidantoinic oluşan hiperplastik dişetlerinde serotonin düzeyleri incelendi.Hiperplastik dişçilerinden alınan ekstrelerin, sıçan mide fundusunda serotonin benzeri aktivite göstermedikleri belirlendi.Anahtar sözcükler: Difenilhidantoin, serotonin, hiperlastik dişeti.ABSTRACTIn this work, the level of serotonin (S-HT) was investigated in diphenylhydantoin-induced hyperplastic gingiva.The extracts from the hyperplastic gingiva didn't appear to exert rather a serotonin-like...

  16. Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

    Science.gov (United States)

    Salter, Claire G; Baralle, Diana; Collinson, Morag N; Self, James E

    2016-04-01

    A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion syndromes, yet the character, prevalence, and extent of these anomalies are not well defined. Identification of these ocular anomalies can be central to providing diagnoses and facilitating optimal individual patient management. We report a child with a 14q32.31 terminal deletion and ring chromosome formation, presenting with severe visual impairment secondary to significant bilateral coloboma and microphthalmia. This patient is compared to previously reported patients with similar ocular findings and deletion sizes to further refine a locus for coloboma in the 14q terminal region. Those with ring formation and linear deletions are compared and the possibility of ring formation affecting the proximal 14q region is discussed. This report highlights the severity of ocular anomalies that can be associated with ring 14 and 14q terminal deletion syndromes and reveals the limited documentation of ocular examination in these two related syndromes. This suggests that many children with these genetic changes do not undergo an ophthalmology examination as part of their clinical assessment, yet it is only when this evaluation becomes routine that the true prevalence and extent of ocular involvement can be defined. This report therefore advocates for a thorough ophthalmological exam in children with ring 14 or 14q terminal deletion syndrome.

  17. 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.

  18. Immunologic studies in two patients with persistent lymphocytic thyroiditis, thyrotoxicosis, and low radioactive iodine uptake

    Energy Technology Data Exchange (ETDEWEB)

    Elliot, I.; Gupta, M.; Hostetter, A.; Sheeler, L.; Skillern, P.; Tubbs, R.

    1984-08-01

    Two patients with persistent lymphocytic thyroiditis and thyrotoxicosis were studied. Both patients presented with severe hyperthyroidism of nine months' duration and had nontender, small thyroid glands. Uptake of radioactive iodine (131I) was consistently low. Serum thyroxine and triiodothyronine levels remained elevated without remission until thyroidectomy. The serum thyroglobulin level was normal, but testing for microsomal antibody gave weakly positive results in one case. Thyroglobulin and thyroid stimulatory antibodies were not found. The ratio of helper to suppressor T cells was elevated in one case. Neither patient showed response to propranolol, prednisone, or iodine. Light microscopic and immunohistologic studies showed severe lymphocytic thyroiditis with formation of secondary lymphoid follicles. Lymphocytes were predominately T cells (OKT11-positive), primarily helper/inducer T cells (OKT4-positive). Hyperplastic nodules contained high immunoreactive thyroglobulin and thyroxine levels. Aberrant thymus was seen within the thyroid. These studies suggest the possibility of intrathyroidal stimulation and hydrolysis of thyroglobulin within thyroid cells and also support the hypothesis that T and B cell immunoregulatory defects are important in the pathogenesis of this disease.

  19. Energy landscapes and persistent minima

    Energy Technology Data Exchange (ETDEWEB)

    Carr, Joanne M.; Wales, David J., E-mail: dw34@cam.ac.uk [University Chemical Laboratories, University of Cambridge, Lensfield Road, Cambridge CB2 1EW (United Kingdom); Mazauric, Dorian; Cazals, Frédéric, E-mail: frederic.cazals@inria.fr [Inria Sophia Antipolis Méditerranée, 2004 route des Lucioles, F-06902 Sophia Antipolis (France)

    2016-02-07

    We consider a coarse-graining of high-dimensional potential energy landscapes based upon persistences, which correspond to lowest barrier heights to lower-energy minima. Persistences can be calculated efficiently for local minima in kinetic transition networks that are based on stationary points of the prevailing energy landscape. The networks studied here represent peptides, proteins, nucleic acids, an atomic cluster, and a glassy system. Minima with high persistence values are likely to represent some form of alternative structural morphology, which, if appreciably populated at the prevailing temperature, could compete with the global minimum (defined as infinitely persistent). Threshold values on persistences (and in some cases equilibrium occupation probabilities) have therefore been used in this work to select subsets of minima, which were then analysed to see how well they can represent features of the full network. Simplified disconnectivity graphs showing only the selected minima can convey the funnelling (including any multiple-funnel) characteristics of the corresponding full graphs. The effect of the choice of persistence threshold on the reduced disconnectivity graphs was considered for a system with a hierarchical, glassy landscape. Sets of persistent minima were also found to be useful in comparing networks for the same system sampled under different conditions, using minimum oriented spanning forests.

  20. [MOLECULAR ASPECTS OF BRUCELLA PERSISTENCE].

    Science.gov (United States)

    Kulakov Yu K

    2016-01-01

    Brucellosis is a dangerous zoonotic disease of animals and humans caused by bacteria of the genus Brucella, which are able to survive, multiply, and persist in host cells. The review is devoted to the Brucella species persistence connected to the molecular mechanisms of escape from innate and adaptive immunity of the host and active interaction of effector proteins of the type IV secretion system with the host's signaling pathways. Understanding of the molecular mechanisms used by Brucella for the intracellular persistence in the host organism can allow us to develop new and effective means for the prevention and treatment of chronic brucellosis infection.

  1. 自体脂肪源性间充质干细胞局部移植对兔耳增生性瘢痕形成的影响%Effects of local transplantation of autologous adipose-derived mesenchymal stem cells on the formation of hyperplastic scar on rabbit ears

    Institute of Scientific and Technical Information of China (English)

    陈璐; 王达利; 魏在荣; 王波; 祁建平; 孙广峰

    2016-01-01

    Objective To investigate the effects of local transplantation of autologous adipose-derived mesenchymal stem cells (ADSCs) on the formation of hyperplastic scar on rabbit ears.Methods ADSCs were isolated from inguinal fat of six New Zealand rabbits and then sub-cultured.ADSCs of the third passage of each rabbit were used in the following experiments.Six full-thickness skin defect wounds with diameter of 6 mm on the ventral surface of every rabbit ear were made.Wound healing and local-tissue proliferation were observed,and complete epithelization time of wounds and formation time of hyperplastic scar were recorded.The wounds on left ears were selected as group ADSCs,and the wounds on right ears were selected as control group,with 36 wounds in each group.After the complete epithelization of wounds (post injury day 25),0.2 mL bromodeoxyuridine (BrdU) labeled autologous ADSCs with the concentration of 5 ×106 per milliliter were injected into each wound of the rabbit of group ADSCs,while the same amount of phosphate buffer solution was injected into each wound of the rabbit of control group.The frequency of injection was once every 5 days,totally for 3 times,and the latter 2 times were injected into scars generated from healed wound.Hyperplastic scars of rabbits of two groups were harvested on the fifth day after the third injection,then the morphology was observed by HE staining,and the arrangement of collagen in hyperplastic scar was observed by VG staining.The distribution of BrdU-labeled ADSCs in the hyperplastic scar was observed with fluorescence microscope.The protein content of type Ⅰ collagen,type Ⅲ collagen,transforming growth factor β1 (TGF-β1),and decorin in hyperplastic scar were detected by enzyme-linked immunosorbent assay,and the mRNA expression of decorin and TGF-β1 in hyperplastic scar were tested by real-time fluorescent quantitative reverse transcription-polymerase chain reaction.Data were processed with paired t test.Results (1) The complete

  2. Immunomodulation by Persistent Organic Pollutants

    Science.gov (United States)

    Persistent organic pollutants (POPs) are widely distnbuted in the environment, are resistant to degradation, and increase in concentration (biomagnify) in the food chain. Concentrations in apical predators may be tens to hundreds of times greater than concentrations in their pref...

  3. Persistent postoperative hiccups: a review

    DEFF Research Database (Denmark)

    Hansen, B J; Rosenberg, J

    1993-01-01

    The pathogenesis of persistent postoperative hiccups is not known. Hiccups can present as a symptom of a subphrenic abscess of gastric distention, and metabolic alterations may also cause hiccups. The hiccups may develop because of increased activity in neural reflex pathways not yet fully defined....... Numerous treatment modalities have been tried but with questionable success. Valproate has proven effective in two trials investigating persistent non-surgical hiccups. The simple application of a nasogastric tube may successfully treat the hiccups, possibly because of an alteration of the activity...... in the reflex neural pathways involved. The available literature on the treatment of persistent hiccups is reviewed, and a treatment protocol for persistent postoperative hiccups is provided....

  4. Persistent forecasting of disruptive technologies

    National Research Council Canada - National Science Library

    Committee on Forecasting Future Disruptive Technologies; National Research Council

    ...) and the Defense Intelligence Agency (DIA) tasked the Committee for Forecasting Future Disruptive Technologies with providing guidance and insight on how to build a persistent forecasting system to predict, analyze, and reduce the impact...

  5. Object-oriented persistent homology

    Science.gov (United States)

    Wang, Bao; Wei, Guo-Wei

    2016-01-01

    Persistent homology provides a new approach for the topological simplification of big data via measuring the life time of intrinsic topological features in a filtration process and has found its success in scientific and engineering applications. However, such a success is essentially limited to qualitative data classification and analysis. Indeed, persistent homology has rarely been employed for quantitative modeling and prediction. Additionally, the present persistent homology is a passive tool, rather than a proactive technique, for classification and analysis. In this work, we outline a general protocol to construct object-oriented persistent homology methods. By means of differential geometry theory of surfaces, we construct an objective functional, namely, a surface free energy defined on the data of interest. The minimization of the objective functional leads to a Laplace-Beltrami operator which generates a multiscale representation of the initial data and offers an objective oriented filtration process. The resulting differential geometry based object-oriented persistent homology is able to preserve desirable geometric features in the evolutionary filtration and enhances the corresponding topological persistence. The cubical complex based homology algorithm is employed in the present work to be compatible with the Cartesian representation of the Laplace-Beltrami flow. The proposed Laplace-Beltrami flow based persistent homology method is extensively validated. The consistence between Laplace-Beltrami flow based filtration and Euclidean distance based filtration is confirmed on the Vietoris-Rips complex for a large amount of numerical tests. The convergence and reliability of the present Laplace-Beltrami flow based cubical complex filtration approach are analyzed over various spatial and temporal mesh sizes. The Laplace-Beltrami flow based persistent homology approach is utilized to study the intrinsic topology of proteins and fullerene molecules. Based on a

  6. Object-oriented Persistent Homology.

    Science.gov (United States)

    Wang, Bao; Wei, Guo-Wei

    2016-01-15

    Persistent homology provides a new approach for the topological simplification of big data via measuring the life time of intrinsic topological features in a filtration process and has found its success in scientific and engineering applications. However, such a success is essentially limited to qualitative data classification and analysis. Indeed, persistent homology has rarely been employed for quantitative modeling and prediction. Additionally, the present persistent homology is a passive tool, rather than a proactive technique, for classification and analysis. In this work, we outline a general protocol to construct object-oriented persistent homology methods. By means of differential geometry theory of surfaces, we construct an objective functional, namely, a surface free energy defined on the data of interest. The minimization of the objective functional leads to a Laplace-Beltrami operator which generates a multiscale representation of the initial data and offers an objective oriented filtration process. The resulting differential geometry based object-oriented persistent homology is able to preserve desirable geometric features in the evolutionary filtration and enhances the corresponding topological persistence. The cubical complex based homology algorithm is employed in the present work to be compatible with the Cartesian representation of the Laplace-Beltrami flow. The proposed Laplace-Beltrami flow based persistent homology method is extensively validated. The consistence between Laplace-Beltrami flow based filtration and Euclidean distance based filtration is confirmed on the Vietoris-Rips complex for a large amount of numerical tests. The convergence and reliability of the present Laplace-Beltrami flow based cubical complex filtration approach are analyzed over various spatial and temporal mesh sizes. The Laplace-Beltrami flow based persistent homology approach is utilized to study the intrinsic topology of proteins and fullerene molecules. Based on a

  7. Persistent cough: is it asthma?

    OpenAIRE

    Faniran, A; Peat, J; Woolcock, A

    1998-01-01

    The aim of this study was to determine if children in the community with persistent cough can be considered to have asthma. A validated questionnaire was given to the parents of 1245 randomly selected children aged 6-12 years. Atopy was measured with skin prick tests. Children with persistent cough had less morbidity and less atopy compared with children with wheeze. Although the syndrome commonly referred to as "cough variant asthma" could not be shown in this study, a sign...

  8. 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.

  9. EphrinB2 controls vessel pruning through STAT1-JNK3 signaling

    Science.gov (United States)

    Salvucci, Ombretta; Ohnuki, Hidetaka; Maric, Dragan; Hou, Xu; Li, Xuri; Yoon, Sung Ok; Segarra, Marta; Eberhart, Charles G.; Acker-Palmer, Amparo; Tosato, Giovanna

    2015-01-01

    Angiogenesis produces primitive vascular networks that need pruning to yield hierarchically organized and functional vessels. Despite the critical importance of vessel pruning to vessel patterning and function, the mechanisms regulating this process are not clear. Here we show that EphrinB2, a well-known player in angiogenesis, is an essential regulator of endothelial cell death and vessel pruning. This regulation depends upon phosphotyrosine-EphrinB2 signaling repressing JNK3 activity via STAT1. JNK3 activation causes endothelial cell death. In the absence of JNK3, hyaloid vessel physiological pruning is impaired, associated with abnormal persistence of hyaloid vessels, defective retinal vasculature and microphthalmia. This syndrome closely resembles human persistent hyperplastic primary vitreus (PHPV), attributed to failed involution of hyaloid vessels. Our results provide evidence that EphrinB2/STAT1/JNK3 signaling is essential for vessel pruning, and that defects in this pathway may contribute to PHPV. PMID:25807892

  10. 高压氧对兔耳增生性瘢痕后期的影响%Effect of Hyperbaric Oxygen on the Late Stage of Rabbit Ears Hyperplastic Scar

    Institute of Scientific and Technical Information of China (English)

    张秀云; 张维娜; 任纪祯; 万金娥

    2015-01-01

    目的:探讨高压氧对兔耳增生性瘢痕后期转归的影响。方法:选取20只新西兰大耳白兔建立兔耳瘢痕模型,随机分成四组(A组、B组、C组和D组),每组5只。实验组(A~C )造模4周后接受高压氧治疗,对照组(D )处于常压环境。检测瘢痕形态学变化和瘢痕增生指数。结果:HE染色结果显示,与对照组相比,实验组胶原纤维增生减轻,毛细血管内皮增生明显;实验组瘢痕增生指数明显低于对照组(P<0.05),瘢痕增生指数随高压氧疗程的增加而减小(P<0.05)。结论:高压氧能够促进增生性瘢痕后期的消退。%Objective :To investigate the role of hyperbaric oxygen on the late hyperplastic scar of rabbit ears .Methods :20 New Zealand rabbits were used for hypertrophic scar model on the ears .The rabbits were randomly divided into 4 groups(A ,B ,C and D groups) ,5 in each group .The experiment groups (A ,B and C) were treated with hyperbaric oxy‐gen for 4 weeks after modeling ,while the control group (D) was kept in atmospheric environment .The morphological changes and hyperplastic of scars were assessed .Results:Compared with the control group ,collagen fiber hyperplasia was reduced ,while capillary endothelial hyperplasia was increased in the experiment groups by HE staining .Scar hy‐perplastic index in the experimental groups was significantly lower than that in the control group (P<0 .05) .Scar hy‐perplastic index was decreased with the increase of treatment significantly (P<0 .05) .Conclusion:Hyperbaric oxygen can repair hyperplastic scar at the late stage .

  11. 积雪草甙治疗增生性瘢痕的临床疗效观察%Clinical observation of therapeutic effects of Asiaticoside on hyperplastic scar

    Institute of Scientific and Technical Information of China (English)

    邓德柱; 石炳文; 刘兴民; 王全胜; 练永芬

    2009-01-01

    Objective To study the therapeutic effect of asiaticoside on hyperplastie scars, Methods 68cases with hyperplastic scars were randomly divided into two groups. The experiment group was administered tablet asiaticoside orally, and asiaticoside cream was used at the same time. The change of patients' symptoms and signs were observed, also the toxicity and the side effect of asiaticoside were observed. Results The hypertrophy of scars was significantly inhibited by Asiaticoside, and the scars has became softening. 3 cases had skin rash after used the cream, but disappeared when stopped usage. In addition, Asiaticoside had no other toxicities and side effects for children body. Conclusion Asiaticoside is effective and safe in the treatment of hyperplastic scar.%目的 研究积雪草甙治疗增生性瘢痕的临床疗效.方法 68例增生性瘢痕患者口服积雪草甙片剂3.6mg/(kg·d),分3次服,同时外用霜剂,每天3次.观察病人的症状和体征变化,给以定量评分以评估其疗效,并观察其毒性及副作用.结果 68例患者中,显效18例(占26.5%),有效45例(占66.2%),无效5例(占7.3%).副作用发生率比较低,未发现明显毒性反应.结论 积雪草甙对瘢痕增生一定的治疗的作用,是有效、安全、易为患者接受的药物.

  12. 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.

  13. Persistence Length of Stable Microtubules

    Science.gov (United States)

    Hawkins, Taviare; Mirigian, Matthew; Yasar, M. Selcuk; Ross, Jennifer

    2011-03-01

    Microtubules are a vital component of the cytoskeleton. As the most rigid of the cytoskeleton filaments, they give shape and support to the cell. They are also essential for intracellular traffic by providing the roadways onto which organelles are transported, and they are required to reorganize during cellular division. To perform its function in the cell, the microtubule must be rigid yet dynamic. We are interested in how the mechanical properties of stable microtubules change over time. Some ``stable'' microtubules of the cell are recycled after days, such as in the axons of neurons or the cilia and flagella. We measured the persistence length of freely fluctuating taxol-stabilized microtubules over the span of a week and analyzed them via Fourier decomposition. As measured on a daily basis, the persistence length is independent of the contour length. Although measured over the span of the week, the accuracy of the measurement and the persistence length varies. We also studied how fluorescently-labeling the microtubule affects the persistence length and observed that a higher labeling ratio corresponded to greater flexibility. National Science Foundation Grant No: 0928540 to JLR.

  14. Persistence length of dendronized polymers

    NARCIS (Netherlands)

    Mikhailov, I.V.; Darinskii, A.A.; Zhulina, E.B.; Borisov, O.V.; Leermakers, F.A.M.

    2015-01-01

    We present numerical results for the thermodynamic rigidity and induced persistence length of dendronized polymers with systematically varied topology of their grafts obtained by the Scheutjens-Fleer self-consistent field method. The results were compared to predictions of an analytical mean-fiel

  15. 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.

  16. Persistent Authentication in Smart Environments

    DEFF Research Database (Denmark)

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

    2008-01-01

    Inhabitants in smart environments are often authenticated when they enter the smart environment, e.g., through biometrics or smart-/swipe-card systems. It may sometimes be necessary to re-authenticate when an inhabitant wishes to enter a restricted area or access ambient services or location based...... will not be installed unless it is absolutely necessary. The cost of installing and maintaining an authentication infrastructure and the inconvenience of repeatedly authenticating toward different location based service providers mean that new models of authentication are needed in smart environments. This paper...... defines a persistent authentication model for a smart environment, which tracks inhabitants in the smart environment from the point of authentication to the protected resource, thus rendering authentication persistent by correlating the initial authentication event with the access control request. We...

  17. Persistent Monitoring Platforms Final Report

    Energy Technology Data Exchange (ETDEWEB)

    Bennett, C L

    2007-02-22

    This project was inspired and motivated by the need to provide better platforms for persistent surveillance. In the years since the inception of this work, the need for persistence of surveillance platforms has become even more widely appreciated, both within the defense community and the intelligence community. One of the most demanding technical requirements for such a platform involves the power plant and energy storage system, and this project concentrated almost exclusively on the technology associated with this system for a solar powered, high altitude, unmanned aircraft. An important realization for the feasibility of such solar powered aircraft, made at the outset of this project, was that thermal energy may be stored with higher specific energy density than for any other known practical form of rechargeable energy storage. This approach has proved to be extraordinarily fruitful, and a large number of spin-off applications of this technology were developed in the course of this project.

  18. Persistence, Perseverance, and Success (PPS

    Directory of Open Access Journals (Sweden)

    Lewis Madhlangobe

    2014-07-01

    Full Text Available The purpose of this qualitative study was to describe motivational factors that increased open distance learning (ODL students’ capacity to successfully graduate with master’s and doctoral credentials. Study background revealed that Zimbabwe Open University (ZOU persistently experiences increased levels of student dropout and competition from conventional universities that introduce ODL through “block-release” programs. We used a descriptive qualitative research approach to collect and analyze data—hence, data collection through audio-recorded open-ended semi-structured interviews helped to maintain accurate accounts of data. We presented data through themed reporting enhanced by direct quotes from participants. Our research broadly concluded that once participants registered to study, perceived attention from various social angles created immense motivational factors ranging from institution motivators, personal factors, and social-generated motivators such as fear of what society would think of them all motivated them to persist and graduate with proposed credentials.

  19. Coping with persistent environmental problems

    DEFF Research Database (Denmark)

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

    2014-01-01

    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......ABSTRACT In this paper we focus on systemic delays in the Baltic Sea that cause the problem of eutrophication to persist. These problems are demonstrated in our study by addressing three types of delays: (1) decision delay: the time it takes for an idea or perceived need to be launched as a policy...... is to analyze these systemic delays and especially to discuss how the critical delays can be better addressed in marine protection policies by strengthening the adaptive capacity of marine protection. We conclude that the development of monitoring systems and reflexive, participatory analysis of dynamics...

  20. Does persisting fear sustain catatonia?

    Science.gov (United States)

    Fink, M; Shorter, E

    2017-11-01

    To examine the psychological substrate of catatonia. Reviewing the historical descriptions and explanations of catatonic behaviours by clinicians from its delineation in the 19th century to the present. Patients with catatonia are often haunted by fears and terrors; this has not been widely appreciated, and certainly was lost from view in the days when catatonia was considered a subtype of schizophrenia. The report contributes to resolving a major question in catatonia: is the mind in stupor inactive, as the blank state that we picture in anesthetized patients, or is the mind active, so preoccupied as to exclude all other influences. Persistent fear occupies the mind of catatonic patients. The signs of catatonia are adaptations to persistent fear, akin to tonic immobilization. The relief afforded by sedation supports this interpretation. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. 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.

  2. 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....

  3. 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...

  4. Persistent Inflammation Leads to Proliferative Neoplasia and Loss of Smooth Muscle Cells in a Prostate Tumor Model

    Directory of Open Access Journals (Sweden)

    Andreas Birbach

    2011-08-01

    Full Text Available In prostate cancers, epidemiological data suggest a link between prostate inflammation and subsequent cancer development, but proof for this concept in a tumor model is lacking. A constitutively active version of IκB kinase 2 (IKK2, which is activated by many inflammatory stimuli, was expressed specifically in the prostate epithelium. Constitutive activation of the IKK2/nuclear factor κB axis was insufficient for prostate transformation. However, in combination with heterozygous loss of phosphatase and tensin homolog, IKK2 activation led to an increase in tumor size, formation of cribriform structures, and increase in fiber in the fibroblastic stroma. This phenotype was coupled with persistent inflammation evoked by chemokine expression in the epithelium and stroma. The hyperplastic and dysplastic epithelia correlated with changes evoked by decreased androgen receptor activation. Conversely, inflammation correlated with stromal changes highlighted by loss of smooth muscle cells around prostate ducts. Despite the loss of the smooth muscle barrier, tumors were rarely invasive in a C57BL/6 background. Data mining revealed that smooth muscle markers are also downregulated in human prostate cancers, and loss of these markers in primary tumors is associated with subsequent metastasis. In conclusion, our data show that loss of smooth muscle and invasiveness of the tumor are not coupled in our model, with inflammation leading to increased tumor size and a dedifferentiated stroma.

  5. Observation of compound chuanzhi transdermal system in the treatment of hyperplastic osteoarthrosis%复方穿蛭透皮贴剂治疗骨质增生性骨关节病临床疗效观察

    Institute of Scientific and Technical Information of China (English)

    李伟; 王新成; 吴昊

    2013-01-01

    目的 观察复方穿蛭透皮贴剂治疗骨关节病的临床疗效.方法 将首次骨质增生性骨关节病疼痛发作就诊患者68例随机分为治疗组与对照组各34例,治疗组及对照组均给与常规外科微创术及推拿按摩,随后给与治疗组复方穿蛭透皮贴剂治疗,并给与对照组天和骨通贴剂治疗,两组均以10d为1个疗程.依据病情行2~3疗程治疗,0.5年后随诊观察两组临床疗效.结果 治疗组与对照组的总有效率分别为94.12%和82.35%,两组疗效比较差异有统计学意义(P<0.05).结论 复方穿蛭透皮贴剂对骨质增生性骨关节病患者具有良好的治疗作用.%Objective To observe the clinical therapeutic effect of compound chuanzhi transdermal system in the treatment of hyperplastic osteoarthrosis.Method 68 patients with hyperplastic osteoarthrosis pain attack for the first time were randomly divided into treatment group(34 patients) and control group (34 patients),both the treatment group and control group were given routine micro-trauma surgery and massage,and then give compound chuanzhi transdermal system to treat the treatment group,and give tianhegutong plaster to treat control group,the two groups were both in 10 days for a period of treatment.According to the condition give them with 2 ~ 3 course treatment,six months follow-up observation clinical curative effect.Results The total effective rate in the treatment group and the control group were 94.12% and 82.35% respectively(P < 0.05).Conclusion Compound chuanzhi transdermal system had good therapeutic effect.

  6. 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.

  7. PERSISTENT CONTAMINANTS: NEW PRIORITIES, NEW CONCERNS

    Science.gov (United States)

    The Stockholm Convention on persistent organic pollutants (POPs) was adopted in 2001 to protect human health and the environment from chemicals that are highly toxic, persistent, bioaccumulative, and undergo long range transport. These POPs include 9 pesticides, polychlorin...

  8. High Persister Mutants in Mycobacterium tuberculosis.

    Directory of Open Access Journals (Sweden)

    Heather L Torrey

    Full Text Available Mycobacterium tuberculosis forms drug-tolerant persister cells that are the probable cause of its recalcitrance to antibiotic therapy. While genetically identical to the rest of the population, persisters are dormant, which protects them from killing by bactericidal antibiotics. The mechanism of persister formation in M. tuberculosis is not well understood. In this study, we selected for high persister (hip mutants and characterized them by whole genome sequencing and transcriptome analysis. In parallel, we identified and characterized clinical isolates that naturally produce high levels of persisters. We compared the hip mutants obtained in vitro with clinical isolates to identify candidate persister genes. Genes involved in lipid biosynthesis, carbon metabolism, toxin-antitoxin systems, and transcriptional regulators were among those identified. We also found that clinical hip isolates exhibited greater ex vivo survival than the low persister isolates. Our data suggest that M. tuberculosis persister formation involves multiple pathways, and hip mutants may contribute to the recalcitrance of the infection.

  9. 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.

  10. Eu2+ activated persistent luminescent materials

    OpenAIRE

    Dutczak, D.A.

    2013-01-01

    This thesis deals with luminescence and persistent luminescence of Eu2+ activated materials and aims at unraveling the mechanism behind the persistent luminescence, in particular the role of Dy3+ in the physical process leading to persistent luminescence. The second aim of this thesis is the preparation and characterization of persistent luminescence phosphors emitting at different colors, especially yellow and red, where there is a need for better afterglow materials. A range of aluminates, ...

  11. Measurement of endotoxin in Pseudo-epitheliomatous hyperplastic granuloma-like lesions on superficial Ⅱdegree burn wounds and its pathogenic mechanism%烧伤后假上皮瘤肉芽肿样病变内毒素测量及其致病机制

    Institute of Scientific and Technical Information of China (English)

    王波涛; 李新华; 陈璧; 董茂龙; 贾赤宇; 朱雄翔; 胡大海; 徐明达

    2003-01-01

    AIM: To investigate the content of endotoxin in Pseudo-epitheliomatous hyperplastic granuloma-like lesions and its pathogenic mechanism. METHODS: Endotoxin concentrations in the tissue were measured with chromogenic limulus amebocyte lysate ( LAL), which was modified by perchloric acid (PCA) pretreatment for samples. To observe the effect of supernate from peripheral blood mononuclear cells by single or repeated endotoxin stimulation, on proliferation of cultured fibroblasts peripheral blood mononuclear cells. RESULTS: Endotoxin was detected in the injured skin but not detected in the normal skin. Supernate from rom peripheral blood mononuclear cells by single endotoxin stimulation has stronger effect on proliferation of fibroblats than repeated stimulation. CONCLUSION: Pseudo-epitheliomatous hyperplastic granuloma-like lesions were resulted from the bacteria in the injured shin, the bacteria produced endotoxin which stimulated the local inflammatory cells to produce cytokines, and the cytokines led to the overgrowth of repairing cells in the skin.

  12. Eu2+ activated persistent luminescent materials

    NARCIS (Netherlands)

    Dutczak, D.A.

    2013-01-01

    This thesis deals with luminescence and persistent luminescence of Eu2+ activated materials and aims at unraveling the mechanism behind the persistent luminescence, in particular the role of Dy3+ in the physical process leading to persistent luminescence. The second aim of this thesis is the

  13. A Grounded Theory of Adult Student Persistence

    Science.gov (United States)

    Capps, Rosemary

    2010-01-01

    This grounded theory study investigates adult student persistence at a community college. Student persistence in college is a prerequisite for degree achievement, which correlates with higher earnings and overall better quality of life. Persistence rates remain low for adult students, who combine their college endeavors with responsibilities to…

  14. 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

  15. How persistent is civilization growth?

    CERN Document Server

    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 consumption and carbon dioxide emissions will continue to grow exponentially at an average rate of about 2.3% per year.

  16. 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 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.

  17. The structure and stability of persistence modules

    CERN Document Server

    Chazal, Frédéric; Glisse, Marc; Oudot, Steve

    2016-01-01

    This book is a comprehensive treatment of the theory of persistence modules over the real line. It presents a set of mathematical tools to analyse the structure and to establish the stability of such modules, providing a sound mathematical framework for the study of persistence diagrams. Completely self-contained, this brief introduces the notion of persistence measure and makes extensive use of a new calculus of quiver representations to facilitate explicit computations. Appealing to both beginners and experts in the subject, The Structure and Stability of Persistence Modules provides a purely algebraic presentation of persistence, and thus complements the existing literature, which focuses mainly on topological and algorithmic aspects.

  18. Persistence of random walk records

    Science.gov (United States)

    Ben-Naim, E.; Krapivsky, P. L.

    2014-06-01

    We study records generated by Brownian particles in one dimension. Specifically, we investigate an ordinary random walk and define the record as the maximal position of the walk. We compare the record of an individual random walk with the mean record, obtained as an average over infinitely many realizations. We term the walk ‘superior’ if the record is always above average, and conversely, the walk is said to be ‘inferior’ if the record is always below average. We find that the fraction of superior walks, S, decays algebraically with time, S ˜ t-β, in the limit t → ∞, and that the persistence exponent is nontrivial, β = 0.382 258…. The fraction of inferior walks, I, also decays as a power law, I ˜ t-α, but the persistence exponent is smaller, α = 0.241 608…. Both exponents are roots of transcendental equations involving the parabolic cylinder function. To obtain these theoretical results, we analyze the joint density of superior walks with a given record and position, while for inferior walks it suffices to study the density as a function of position.

  19. Persistent ENSO in different climates?

    Science.gov (United States)

    Fedorov, A. V.; Manucharyan, G. E.

    2013-12-01

    Growing evidence suggests that, despite profound changes in tropical climate, ENSO has been active over a vast geological epoch stretching millions of years from the Late Cretaceous through the Holocene. In particular, ENSO persisted during the Pliocene when there occurred a dramatic reduction in the mean east-west temperature gradient in the equatorial Pacific - a key element of tropical dynamics. Here we use a comprehensive climate model to explore the dependence of ENSO on this temperature gradient. We find that in a broad range of climates ENSO remains surprisingly robust. When the east-west temperature gradient is reduced from 6oC to 1oC, the amplitude of ENSO decreases only by 30-40%, its dominant period remains close to 3-4 years, and the spectral peak stays above red noise. To explain these results we assess the magnitude of ocean-atmosphere feedbacks that control the stability of the natural mode of ENSO (the Bjerknes Index). We find that due to reorganization of the atmospheric Walker circulation in response to changes in the mean temperature gradient, the growth/decay rates of the ENSO mode stay nearly constant throughout different climates. This factor explains the persistence of the Southern Oscillation in past geological epochs and reconciles the seemingly contradictory findings of ENSO occurrence and the small east-west temperature gradient during the Pliocene. Finally, our results explain why ENSO in many climate models seems to be controlled by a weakly-damped mode just below neutral stability.

  20. Continuation of point clouds via persistence diagrams

    Science.gov (United States)

    Gameiro, Marcio; Hiraoka, Yasuaki; Obayashi, Ippei

    2016-11-01

    In this paper, we present a mathematical and algorithmic framework for the continuation of point clouds by persistence diagrams. A key property used in the method is that the persistence map, which assigns a persistence diagram to a point cloud, is differentiable. This allows us to apply the Newton-Raphson continuation method in this setting. Given an original point cloud P, its persistence diagram D, and a target persistence diagram D‧, we gradually move from D to D‧, by successively computing intermediate point clouds until we finally find a point cloud P‧ having D‧ as its persistence diagram. Our method can be applied to a wide variety of situations in topological data analysis where it is necessary to solve an inverse problem, from persistence diagrams to point cloud data.

  1. Genetics Home Reference: Bosma arhinia microphthalmia syndrome

    Science.gov (United States)

    ... the brain structure involved in the sense of smell ( olfactory bulb ). Because of these abnormalities, people with BAMS have an impaired ability to smell and, consequently, to taste. In most people with ...

  2. Persistent currents in ferromagnetic condensates

    Science.gov (United States)

    Lamacraft, Austen

    2017-06-01

    Persistent currents in Bose condensates with a scalar order parameter are stabilized by the topology of the order parameter manifold. In condensates with multicomponent order parameters it is topologically possible for supercurrents to "unwind" without leaving the manifold. We study the energetics of this process in the case of ferromagnetic condensates using a long wavelength energy functional that includes both the superfluid and spin stiffnesses. Exploiting analogies to an elastic rod and rigid body motion, we show that the current carrying state in a 1D ring geometry transitions between a spin helix in the energy minima and a solitonlike configuration at the maxima. The relevance to recent experiments in ultracold atoms is briefly discussed.

  3. Persistent Pneumonia in an Infant.

    Science.gov (United States)

    Padilla, Kristen; Logan, Latania; Codispoti, Christopher; Jones, Carolyn; Van Opstal, Elizabeth

    2015-07-01

    A 4-month-old boy with past medical history of eczema presented with fever and cough; a chest radiograph showed lung consolidation, and he was initially treated with amoxicillin for presumed community-acquired pneumonia. After several days, his fever persisted. He was also profoundly anemic. Antibiotic coverage was broadened because of the concern for resistant organisms; he began to improve and was discharged from the hospital. However, at 5 months of age, his fever returned, and he continued to demonstrate lung consolidation on chest radiograph. Additionally, he had lost weight and continued to be anemic. Splenic cysts were noted on abdominal ultrasound. He was diagnosed with an unusual etiology for his pneumonia and improved with the appropriate therapy. An underlying immunodeficiency was suspected, but initial testing was nondiagnostic. At 12 months of age, he presented with another infection, and the final diagnosis was made.

  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 successful propagation and long-term continued existence of these extra-chromosomal elements is extensive. Apart from the accessory genetic elements that may provide plasmid-harboring cells a selective advantage, special focus is placed on the mechanisms conjugative plasmids employ to ensure their stable...... maintenance in the host cell. These importantly include the ability to self-mobilize in a process termed conjugative transfer, which may occur across species barriers. Other plasmid stabilizing mechanisms include the multimer resolution system, active partitioning, and post-segregational-killing of plasmid...

  5. 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...

  6. 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.

  7. Psychoacoustic classification of persistent tinnitus.

    Science.gov (United States)

    Suzuki, Flavia Alencar de Barros; Suzuki, Fabio Akira; Onishi, Ektor Tsuneo; Penido, Norma Oliveira

    2017-08-01

    Tinnitus is a difficult to treat symptom, with different responses in patients. It is classified in different ways, according to its origin and associated diseases. to propose a single and measurable classification of persistent tinnitus, through its perception as sounds of nature or of daily life and its comparison with pure tone or noise, of high or low pitch, presented to the patient by audiometer sound. A total of 110 adult patients, of both genders, treated at the Tinnitus Outpatient Clinic, were enrolled according to the inclusion and exclusion criteria. Otorhinolaryngologic and Audiological, Pitch Matching and Loudness, Visual Analog Scale, Tinnitus Handicap Inventory and Minimum Masking Level assessments were performed. In these 110 patients, 181 tinnitus complaints were identified accordingly to type and ear, with 93 (51%) Pure Tone, and 88 (49%) Noise type; 19 at low and 162 at high frequency; with a mean in the Pure Tone of 5.47 in the Visual Analog Scale and 12.31 decibel in the Loudness and a mean in the Noise of 6.66 and 10.51 decibel. For Tinnitus Handicap Inventory and Minimum Masking Level, the 110 patients were separated into three groups with tinnitus, Pure Tone, Noise and multiple. Tinnitus Handicap Inventory higher in the group with multiple tinnitus, of 61.38. Masking noises such as White Noise and Narrow Band were used for the Minimum Masking Level at the frequencies of 500 and 6000Hz. There was a similarity between the Pure Tone and Multiple groups. In the Noise group, different responses were found when Narrow Band was used at low frequency. classifying persistent tinnitus as pure tone or noise, present in high or low frequency and establishing its different characteristics allow us to know its peculiarities and the effects of this symptom in patients' lives. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  8. Dualities in Persistent (Co)Homology

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-09-16

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

  9. Dualities in Persistent (Co)Homology

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-09-16

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

  10. Persistent Negative Symptoms in Schizophrenia: An Overview

    OpenAIRE

    Buchanan, Robert W.

    2006-01-01

    Persistent negative symptoms represent an alternative approach for assessing negative symptoms in the context of clinical trials. Persistent negative symptoms are designed to capture those symptoms that lead to functional impairment but are currently understudied and for which there are no currently available effective treatments. Persistent negative symptoms differ from the 2 most commonly used approaches: primary, enduring negative symptoms or deficit symptoms and negative symptoms broadly ...

  11. Genetics of Persister Formation in Pseudomonas aeruginosa

    Science.gov (United States)

    2012-12-14

    RNA endonuclease toxin-anti-toxin modules must be knocked out before there is an observable effect on persister formation (Maisonneuve, Shakespeare et...multidrug tolerance in Escherichia coli." J Bacteriol 186(24): 8172-8180. Maisonneuve, E., L. J. Shakespeare , et al. (2011). "Bacterial persistence by RNA...endonuclease toxin-anti-toxin modules must be knocked out before there is an observable effect on persister formation (Maisonneuve, Shakespeare et al. 2011

  12. Persisters-as elusive as ever.

    Science.gov (United States)

    Kaldalu, Niilo; Hauryliuk, Vasili; Tenson, Tanel

    2016-08-01

    Persisters-a drug-tolerant sub-population in an isogenic bacterial culture-have been featured throughout the last decade due to their important role in recurrent bacterial infections. Numerous investigations detail the mechanisms responsible for the formation of persisters and suggest exciting strategies for their eradication. In this review, we argue that the very term "persistence" is currently used to describe a large and heterogeneous set of physiological phenomena that are functions of bacterial species, strains, growth conditions, and antibiotics used in the experiments. We caution against the oversimplification of the mechanisms of persistence and urge for a more rigorous validation of the applicability of these mechanisms in each case.

  13. Physical trust-based persistent authentication

    DEFF Research Database (Denmark)

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

    2015-01-01

    Recently companies have applied two-factor user authentication. Persistent Authentication is one of the interesting authentication mechanisms to establish security and usability of two-factor authentication systems. However, there is room to improve its feasibility and usability. In this paper, we...... 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...

  14. Comparative Study of the Effect of Shugan Shuru Granule(疏肝舒乳颗粒)on Pathology and p53 Gene Expression in Patients with Hyperplastic Disease of Breast

    Institute of Scientific and Technical Information of China (English)

    WANG Cheng-xin; HUANG Xuan; ZHAO Xiao-ling; DENG Hao

    2005-01-01

    Objective: To study the effect of Shugan Shuru Granule (疏肝舒乳颗粒, SSG) on the p53 gene expression in patients with hyperplastic disease of breast (HDB) to indirectly explore the mechanism of SSG's effect on HDB on the molecular pathological level. Methods: Sixty-six patients with HDB were allocated in the treated group and the control group, with the former treated with SSG and the latter not. All patients underwent breast operation and their diseased mammary tissues were cut out, sectioned, and observed under microscopy with HE staining and immunohistochemical staining, with ABC method adopted to estimate the degree of hyperplasia and p53 gene expression. The severity of HDB was classified into normal, mild, moderate and severe grades (marked as 0 to Ⅲ ), according to the degree of hyperplasia in the mammary gland.Results: Hyperplasia in the control group mostly belonged to grade Ⅰ - Ⅲ before treatment, showing overgrowth of gland and proliferation of glandular epithelial cells, which were high columnar shaped, more stratified, with papillary or substantive dysplasia. While in the treated group, most belonged to grade 0- Ⅰ after SSG treatment, with proliferated gland and dysplasia recovered to normal or disappeared. The positive rate of p53 gene expression in the treated group was 9.09%, and in the control group 39.39%, comparison between the two groups showing significant difference ( P<0.01), the intensity in the former was significantly weaker than that in the latter. Conclusion: SSG could not only inhibit the proliferation of mammary duct epithelia and Iobuli, but also inhibit the over-expression of P53. Therefore, it could be regarded as an effective remedy for treatment of HDB and prevention of mammary cancer genesis.

  15. 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.)

  16. Clinical study on LPG physical therapy in the treatment of the hyperplastic scar after trauma%LPG物理治疗仪治疗创伤后增生性瘢痕疗效研究

    Institute of Scientific and Technical Information of China (English)

    王菲; 叶兰萍; 曹广通; 武岳

    2015-01-01

    目的:探讨LPG物理治疗仪治疗增生性瘢痕的临床效果.方法:选取甘肃省人民医院2014年5月-2015年5月收治的诊断为瘢痕增生患者78例.其中男性46例,女性32例;年龄2~42岁,平均(14.21±10.74)岁.瘢痕增生病程为6个月~5年.采用LPG物理治疗仪,根据瘢痕的大小及位置选取合适的探头,较大部位采取大探头,较小部位如眼周,选择小探头;压力按照压力梯度递增,至患者可耐受即可.治疗周期为1个月,1次/d, 10~15min/次.分别记录患者治疗前后瘢痕的色泽、厚度、血管化状态、柔软度情况.采用温哥华烧伤瘢痕评定量表(Vancouver scarscale,VSS)进行量化比较.截止2015年5月,治疗后随访,均未出现明显瘢痕增生,其中最长随访时间为8个月,患者为12名.结果:治疗后78名患者瘢痕瘙痒症状均有不同程度的缓解,通过VSS量表分析治疗前与治疗后两组比较差异有显著性(P<0.05),且患者对于治疗结果均满意.结论:LPG可以有效地治疗创伤后增生性瘢痕,其采取负压抽吸的作用,软化瘢痕,促进瘢痕内胶原合成.%Objective To investigate the clinical effect of LPG physical therapy for the treatment of the hyperplastic scar. Methods Selected 78 patients which had been diagnosed with hyperplastic scar in Gansu Provincial Hospital from May.2014 to May.2015.There were 46 males,32 females;age 2-42 years old, average(14.21±10.74)years old.Scar hyperplasia course for half a year to 5 years.Using LPG physical therapy instrument, according to the size and the position of scars to select a appropriate head,the position which is larger will take a large head,small parts such as the eye,will choose a small head;Pressure according to the pressure gradient increased,untill the patient can tolerate.The treatment period are 1 months,1 times/d,10-15h/times.Recorded those before and after treatments datum in patients with scar color, thickness,vascular status, soft degree.Using the Vancouver

  17. 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.

  18. A PILOT STUDY OF CHILDREN'S TOTAL EXPOSURE TO PERSISTENT PESTICIDES AND OTHER PERSISTENT ORGANIC POLLUTANTS (CTEPP)

    Science.gov (United States)

    The Pilot Study of Children's Total Exposure to Persistent Pesticides and Other Persistent Organic Pollutants (CTEPP) investigated the aggregate exposures of 257 preschool children and their primary adult caregivers to pollutants commonly detected in their everyday environments. ...

  19. A Case of Persistent Sciatic Artery Aneurysm Accompanied by a Persistent Sciatic Vein

    OpenAIRE

    Tadakoshi, Masao; Ohta, Takashi; Ishibashi, Hiroyuki; Sugimoto, Ikuo; Iwata, Hirohide; Yamada, Tetsuya; Hida, Noriyuki; Orimoto, Yuki

    2010-01-01

    A persistent sciatic artery is a rare anomaly. On the other hand, a persistent sciatic vein is frequently associated with Klippel-Trenaunay syndrome. In a 71-year-old female with a complete-type persistent sciatic artery aneurysm, we performed aneurysmectomy and right femoropopliteal bypass surgery. The right popliteal vein drained into the femoral vein via a lower-type persistent sciatic vein and the deep femoral vein. The superficial femoral artery and vein were hypoplastic. Since only 4 ca...

  20. Persistence of Undergraduate Women in STEM Fields

    Science.gov (United States)

    Pedone, Maggie Helene

    2016-01-01

    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…

  1. 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.

  2. Correlated neural variability in persistent state networks.

    Science.gov (United States)

    Polk, Amber; Litwin-Kumar, Ashok; Doiron, Brent

    2012-04-17

    Neural activity that persists long after stimulus presentation is a biological correlate of short-term memory. Variability in spiking activity causes persistent states to drift over time, ultimately degrading memory. Models of short-term memory often assume that the input fluctuations to neural populations are independent across cells, a feature that attenuates population-level variability and stabilizes persistent activity. However, this assumption is at odds with experimental recordings from pairs of cortical neurons showing that both the input currents and output spike trains are correlated. It remains unclear how correlated variability affects the stability of persistent activity and the performance of cognitive tasks that it supports. We consider the stochastic long-timescale attractor dynamics of pairs of mutually inhibitory populations of spiking neurons. In these networks, persistent activity was less variable when correlated variability was globally distributed across both populations compared with the case when correlations were locally distributed only within each population. Using a reduced firing rate model with a continuum of persistent states, we show that, when input fluctuations are correlated across both populations, they drive firing rate fluctuations orthogonal to the persistent state attractor, thereby causing minimal stochastic drift. Using these insights, we establish that distributing correlated fluctuations globally as opposed to locally improves network's performance on a two-interval, delayed response discrimination task. Our work shows that the correlation structure of input fluctuations to a network is an important factor when determining long-timescale, persistent population spiking activity.

  3. Transparent Persistence with Java Data Objects

    CERN Document Server

    Hrivnác, J

    2003-01-01

    Flexible and performant Persistency Service is a necessary component of any HEP Software Framework. The building of a modular, non-intrusive and performant persistency component have been shown to be very difficult task. In the past, it was very often necessary to sacrifice modularity to achieve acceptable performance. This resulted in the strong dependency of the overall Frameworks on their Persistency subsystems. Recent development in software technology has made possible to build a Persistency Service which can be transparently used from other Frameworks. Such Service doesn't force a strong architectural constraints on the overall Framework Architecture, while satisfying high performance requirements. Java Data Object standard (JDO) has been already implemented for almost all major databases. It provides truly transparent persistency for any Java object (both internal and external). Objects in other languages can be handled via transparent proxies. Being only a thin layer on top of a used database, JDO doe...

  4. Persistence Diagrams and the Heat Equation Homotopy

    CERN Document Server

    Fasy, Brittany Terese

    2010-01-01

    Persistence homology is a tool used to measure topological features that are present in data sets and functions. Persistence pairs births and deaths of these features as we iterate through the sublevel sets of the data or function of interest. I am concerned with using persistence to characterize the difference between two functions f, g : M -> R, where M is a topological space. Furthermore, I formulate a homotopy from g to f by applying the heat equation to the difference function g-f. By stacking the persistence diagrams associated with this homotopy, we create a vineyard of curves that connect the points in the diagram for f with the points in the diagram for g. I look at the diagrams where M is a square, a sphere, a torus, and a Klein bottle. Looking at these four topologies, we notice trends (and differences) as the persistence diagrams change with respect to time.

  5. FACTORS AFFECTING PERSISTENCE IN STUDENTS' LEARNING

    Institute of Scientific and Technical Information of China (English)

    ShenPanyang

    2004-01-01

    It is one thing that currently in China English learning persists through a student's whole study life, but it is another how long his persistence, an important factor in any language learning, can last. The factors affecting a student's persistence in this regard practically merits our attention. This paper traces and observes twenty students chosen by random. The research conducted here included their study motivation, academic excellence, psychological aspects relating to language learning and established corresponding models showing how these factors affect a student's persistence in his English learning. Although a small sample number was taken,of different students in China.the twenty students were typical of different students in China. The students' backgrounds were varied including both educational and environmental. Some suggestions are given indicating three separate but inter-related ways in how to further develop a student's persistence.

  6. Placental abruption: a persisting killer

    Directory of Open Access Journals (Sweden)

    Shakuntala Amirchand Chhabra

    2014-06-01

    Full Text Available Background: Placental abruption, common disorder in obstetric practice, enigma too, is uniquely fraught with dangers to mother baby. Objectives of study were to study trends of placental abruption, risk factors, management strategies to learn more for reduction in morbidity-mortality of mother-baby, even with low resources, also get insight for future research. Methods: Records of cases of placental abruption managed over 27 years (between 1985 to 2011 were divided into three yearly blocks, A to I and analysed. Details including operative procedures like dilatation-curettage, Caesarean Section (CS or Ante-Partum Haemorrhage (APH in past, disorders like chronic hypertension, threatened abortion, pregnancy specific hypertension, diabetes, anaemia in index pregnancy, management done maternal-neonatal outcome were analysed using stata 6 software. Results: There were 66,459 births during analysis period with 667 cases of placental abruption, 1% births, increasing trends from, 0.73% between 1985-1987 to, 1.11% in 2009-2011. In these 667 cases of placental abruption, 211 (32.5% perinatal deaths occurred. Ratio of perinatal deaths due to placental abruption to overall perinatal deaths increased from 2.12% (8 cases between 1985-1987 (Block A to 5.12% (37 cases between 2009-2011 (Block I. Case fatality in cases of placental abruption has been fluctuating between 3 to 5% till 2004, contributing to around 12-15%, maternal mortality, with no fatality in last 7 years. Conclusions: Cases of placental abruption have been increasing with no obvious reason. In recent past maternal deaths could be prevented but perinatal deaths, have been persisting actually more in last decade. [Int J Reprod Contracept Obstet Gynecol 2014; 3(3.000: 604-609

  7. Experimental Studies on Pathogenesis of Waardenburg Syndrome Type Ⅱ Resulting from Microphthalmia-Associated Transcription Factor Gene Mutations%MITF基因突变致Ⅱ型Waardenburg综合征发病的实验研究

    Institute of Scientific and Technical Information of China (English)

    张华; 陈红胜; 李家大; 罗洪金; 梅凌云; 贺楚峰; 冯永

    2014-01-01

    目的 通过体外实验研究小眼球畸形相关转录因子(microphthalmia-associated transcription factor,MITF)突变基因功能,初步探讨其致Ⅱ型Waardenburg综合征(Waardenburg syndrome,WS)发病的分子机制.方法 以野生型MITF基因真核细胞表达质粒pCMV-MITF-Flag为模板分别构建二个致Ⅱ型WS的MITF基因新发突变R217I和T192fsX18的真核细胞表达质粒.野生MITF和突变R217I和T192fsX18表达质粒瞬时转染黑色素瘤细胞或小鼠胚胎成纤维细胞(NIH3T3细胞),应用Western blot和细胞免疫荧光分别检测其表达和亚细胞定位;应用荧光素酶活性检测系统通过对酪氨酸酶(tyrosinase,TYR)报告基因活性检测观察野生/突变MITF蛋白对其靶基因TYR转录活性的调控作用,以及二个突变蛋白对野生MITF蛋白功能的影响;应用生物素标记的含E box基序(CATGTG)的DNA寡核苷酸链探针分别沉淀MITF、R217I及T192fsX18蛋白,检测野生/突变MITF蛋白与靶基因TYR启动子的结合力.结果 成功构建了突变型R217I、T192fsX18真核细胞重组表达质粒pCMV-R217I-Flag和pCMV-T192fsX18-Flag,MITF蛋白与R217I、T192fsX18突变蛋白在黑色素瘤细胞中正确表达,进一步验证了重组质粒构建的正确性.突变R217I蛋白与野生MITF蛋白一样仅在细胞核中分布,而T192fsX18蛋白则出现异常亚细胞定位,仅在细胞质中分布.尽管R217I蛋白仍残余部分功能可增加TYR启动子转录活性,但与野生MITF蛋白相比,二者差异有显著统计学意义(P<0.01),而T192fsX18蛋白则完全失去调控TYR启动子转录活性作用(P<0.01);二者均未对野生MITF蛋白功能产生显性负效应(P>0.05).突变R217I蛋白与野生MITF蛋白均可与TYR启动子特异DNA序列E-box结合,而突变T192fs X18蛋白则不能与之结合.结论 R217I和T192fsX18突变蛋白通过影响靶基因TYR转录活性,使其表达下调、黑色素合成减少,以单倍体剂量不足效应致Ⅱ型WS.

  8. EBV Persistence--Introducing the Virus.

    Science.gov (United States)

    Thorley-Lawson, David A

    2015-01-01

    Persistent infection by EBV is explained by the germinal center model (GCM) which provides a satisfying and currently the only explanation for EBVs disparate biology. Since the GCM touches on every aspect of the virus, this chapter will serve as an introduction to the subsequent chapters. EBV is B lymphotropic, and its biology closely follows that of normal mature B lymphocytes. The virus persists quiescently in resting memory B cells for the lifetime of the host in a non-pathogenic state that is also invisible to the immune response. To access this compartment, the virus infects naïve B cells in the lymphoepithelium of the tonsils and activates these cells using the growth transcription program. These cells migrate to the GC where they switch to a more limited transcription program, the default program, which helps rescue them into the memory compartment where the virus persists. For egress, the infected memory cells return to the lymphoepithelium where they occasionally differentiate into plasma cells activating viral replication. The released virus can either infect more naïve B cells or be amplified in the epithelium for shedding. This cycle of infection and the quiescent state in memory B cells allow for lifetime persistence at a very low level that is remarkably stable over time. Mathematically, this is a stable fixed point where the mechanisms regulating persistence drive the state back to equilibrium when perturbed. This is the GCM of EBV persistence. Other possible sites and mechanisms of persistence will also be discussed.

  9. 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.

  10. 维A酸涂膜剂对兔耳早期增生性瘢痕的影响%Effect of tretinoin gel sheeting on early-stage hyperplastic scars in rabbit ears

    Institute of Scientific and Technical Information of China (English)

    刘群英; 段俊俊; 邵家松

    2014-01-01

    目的 研究维A酸涂膜剂对兔耳早期增生性瘢痕的影响,探讨其防治瘢痕的可行性.方法 选取新西兰白兔24只,建立兔耳增生性瘢痕模型后,随机分为4组,每组6只.A组:对照组,B组:涂膜剂组,C组:0.05%维A酸涂膜剂组,D组:0.1%维A酸涂膜剂组,连续用药6周,期间观察记录瘢痕大小、厚度、颜色、硬度,6周后分别切取兔耳瘢痕组织,HE染色,胶原染色(VG法),行病理学观察、检测及分析.结果 A组瘢痕颜色深、厚而硬,并明显高于皮肤,表面凹凸不平;B组、C组、D组瘢痕颜色浅,质地软,厚度薄,皮下结节小,其中C、D组与周围正常皮肤接近,D组瘢痕表面有脱皮现象.HE、VG染色中,A组胶原排列紊乱,有旋涡状结构;C组和D组单位面积内成纤维细胞、微血管数量、胶原沉积量较A组和B组少,且胶原排列整齐,与瘢痕长轴平行.瘢痕增生指数(HI):A组3.17±0.26,B组2.46±0.19,C组1.91±0.21,D组1.90±0.23;成纤维细胞密度(NA):A组5836.70±527.03,B组4128.73±387.66,C组3207.59±439.17,D组3200.28±421.48;胶原纤维的面密度(AA):A组45.38±5.83,B组36.57±6.84,C组28.09±3.82,D组28.07±3.47.A组与B、C、D组比较,HI、NA、AA值差异均有统计学意义(P<0.01);B组与C、D组比较,HI、NA、AA值差异均有统计学意义(P<0.01);C组与D组比较,HI、NA、AA值差异无统计学意义(P>0.05).结论 维A酸涂膜剂可以抑制兔耳早期瘢痕增生,可为防治瘢痕提供一种新的外用方法.%Objective To estimate the effect of tretinoin gel sheeting on early-stage hyperplastic scars in rabbit ears,and to evaluate the feasibility to prevent and treat hyperplastic scars with it.Methods The ears of 24 rabbits were used to establish a model of hyperplastic scar according to previously reported methods.Then,the rabbit ears were randomly divided into four groups:control group receiving no treatment,gel sheeting group treated with the vehicle of the tretinoin gel sheeting,0

  11. Persistent photosensitivity caused by musk ambrette.

    Science.gov (United States)

    Zugerman, C

    1981-07-01

    Persistent photosensitivity developed in a man after use of an after-shave lotion containing musk ambrette. His eruption, present over ligh-exposed areas of the face, the "V" area of the neck, and the dorsa of the hands, has persisted for more than three years despite therapy. The patient demonstrated a minimal erythema after an ultraviolet B dose of 5 s, and was strongly ultraviolet A photosensitive to a 2% musk ambrette solution in petrolatum and to the after-shave lotion that contained musk ambrette. A persistent light reactivity induced by musk ambrette has most likely developed in this patient.

  12. Remote Biometrics for Robust Persistent Authentication

    DEFF Research Database (Denmark)

    Ingwar, Mads Ingerslew; Jensen, Christian D.

    2014-01-01

    that fusion of two remote biometric modalities, facial recognition and appearance analysis, gives a significant improvement over each of the individual experts. Furthermore, the experimental results show that using remote biometrics increases the performance of tracking in persistent authentication...

  13. 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.

  14. [Persistent dento-alveolar pain disorder (PDAP)].

    Science.gov (United States)

    Warnsinck, C J; Koutris, M; Shemesh, H; Lobbezoo, F

    2015-02-01

    Dento-alveolar pain is common in the orofacial area. Persistent dento-alveolar pain could be experienced without an identifiable etiology with poor response to existing treatments. Confusion about the diagnosis and classification of persistent dento-alveolar pain (PDAP) disorders could explain the difficulties in treatment and unfavorable prognosis. Recently, initial steps were made to improve the taxonomy and diagnostic criteria for PDAP in order to improve clinical research and care.

  15. Persistence in PHP with the doctrine ORM

    CERN Document Server

    Dunglas, Kévin

    2013-01-01

    Persistence in PHP with the Doctrine ORM is a concise, fast, and focused guide to build a blog engine with advanced features such as native queries and lifecycle callbacks.This book is primarily intended for PHP developers and architects who want to increase their skills in the field of Persistence and ORM to map the data they are working on to objects they are using in programming. Basic knowledge of databases and PDO and working knowledge of PHP namespaces is a prerequisite.

  16. Persistence of acanthamoeba antigen following acanthamoeba keratitis

    OpenAIRE

    Yang, Y; Matheson, M; Dart, J; Cree, I.

    2001-01-01

    AIM—To investigate the hypothesis that persistent corneal and scleral inflammation following acanthamoeba keratitis is not always caused by active amoebic infection but can be due to persisting acanthamoebic antigens
METHODS—24 lamellar corneal biopsy and penetrating keratoplasty specimens were obtained from 14 consecutive patients at various stages of their disease and divided for microscopy and culture. Histological sections were immunostained and screened for the presence of Acanthamoeba c...

  17. [Therapeutic approach in persistent diabetic macular edema].

    Science.gov (United States)

    Brănişteanu, Daniel; Moraru, Andreea

    2014-01-01

    Terminology of persistent diabetic macular edema has been initially reserved to cases unresponsive to conventional laser photocoagulation according to ETDRS criteria. While knowledge about pathophysiology of macular edema evolved and new drugs became available, the terminology of persistent diabetic macular edema expanded to include resistance to most current therapies. The purpose of this paper is to review medical and surgical options in the treatment of such difficult cases according to literature data and personal experience.

  18. Persistent akathisia associated with early tardive dyskinesia.

    OpenAIRE

    Barnes, T. R.; Braude, W M

    1984-01-01

    Two psychiatric patients developed moderate or severe oro-facial dyskinesia, and limb dyskinesia, at a relatively young age and within a year of starting antipsychotic drug-treatment. This early appearance of tardive dyskinesia was preceded by akathisia that had developed at the beginning of drug therapy and persisted, despite the reduction of their drug doses to maintenance levels. The possibility that persistent akathisia may herald the early onset of tardive dyskinesia, is discussed.

  19. Persistent homology in graph power filtrations.

    Science.gov (United States)

    Parks, Allen D; Marchette, David J

    2016-10-01

    The persistence of homological features in simplicial complex representations of big datasets in R (n) resulting from Vietoris-Rips or Čech filtrations is commonly used to probe the topological structure of such datasets. In this paper, the notion of homological persistence in simplicial complexes obtained from power filtrations of graphs is introduced. Specifically, the rth complex, r ≥ 1, in such a power filtration is the clique complex of the rth power G(r) of a simple graph G. Because the graph distance in G is the relevant proximity parameter, unlike a Euclidean filtration of a dataset where regional scale differences can be an issue, persistence in power filtrations provides a scale-free insight into the topology of G. It is shown that for a power filtration of G, the girth of G defines an r range over which the homology of the complexes in the filtration are guaranteed to persist in all dimensions. The role of chordal graphs as trivial homology delimiters in power filtrations is also discussed and the related notions of 'persistent triviality', 'transient noise' and 'persistent periodicity' in power filtrations are introduced.

  20. 去肾上腺素能交感神经支配对大鼠良性增生前列腺的影响%Damage induced by losing innervation of sympathetic nerve in rats' benign hyperplastic prostate

    Institute of Scientific and Technical Information of China (English)

    蔡建良; 辛殿祺; 何群; 汤秀琴; 那彦群

    2008-01-01

    目的 探索去除肾上腺素能交感神经支配后大鼠良性增生前列腺的组织、细胞病理学变化.方法 30周龄雄性自发性高血压大鼠65只,随机分配为手术组、手术对照组和正常对照组.手术组切断双侧盆腔主要神经节的交感腹下神经来源支,然后行膀胱造口术;手术对照组仅行膀胱造口术.分别于术后3、7、11、15、≥21 d分批处死大鼠,观察各组大鼠前列腺大体形态学、组织学和细胞超微结构改变.结果 大鼠实验模型均制作成功.手术组大鼠前列腺在后期(手术15 d后)出现轻微的质地变硬,颜色和形状变化不明显,前列腺湿重/大鼠体重比值随术后时间的延长有下降趋势,前列腺组织干重/湿重比值在手术15 d后逐渐升高,但与手术对照组比较差异均无统计学意义.镜下观:手术组大鼠前列腺早期出现腺腔明显扩张、前列腺液积存和凝块形成,平滑肌拉长变薄,但后期病变逐步缓解,腺上皮层无变化.透射电镜:手术组大鼠前列腺腺细胞、基底膜无明显变化,但平滑肌术后3 d出现肌膜皱缩,肌丝、密体和密斑结构不清晰等改变,术后11 d后,病变逐步好转.手术对照组无上述变化.结论 彻底去除肾上腺素能交感神经支配后,大鼠良性增生前列腺的平滑肌出现短时间的结构受损和功能障碍,后期能自行部分恢复.%Objective To study the pathologic change of rats' benign hyperplastic prostate after losing the innervation of sympathetic nerve. Methods A total of 65 male spontaneous hypertension rats (SHR) aged 30 weeks old were randomly assigned into treatment group, sham surgery control group and normal control group. In treatment group, the originating branches of sympathetic hypngastric nerve of the bilateral major pelvic ganglions were truncated following the performance of eystostomy. The rata were sac-rificed at day 3,7,11,15 and≥21 post-operation respectively. The gross

  1. Characterization of Bacillus anthracis persistence in vivo.

    Directory of Open Access Journals (Sweden)

    Sarah A Jenkins

    Full Text Available Pulmonary exposure to Bacillus anthracis spores initiates inhalational anthrax, a life-threatening infection. It is known that dormant spores can be recovered from the lungs of infected animals months after the initial spore exposure. Consequently, a 60-day course antibiotic treatment is recommended for exposed individuals. However, there has been little information regarding details or mechanisms of spore persistence in vivo. In this study, we investigated spore persistence in a mouse model. The results indicated that weeks after intranasal inoculation with B. anthracis spores, substantial amounts of spores could be recovered from the mouse lung. Moreover, spores of B. anthracis were significantly better at persisting in the lung than spores of a non-pathogenic Bacillus subtilis strain. The majority of B. anthracis spores in the lung were tightly associated with the lung tissue, as they could not be readily removed by lavage. Immunofluorescence staining of lung sections showed that spores associated with the alveolar and airway epithelium. Confocal analysis indicated that some of the spores were inside epithelial cells. This was further confirmed by differential immunofluorescence staining of lung cells harvested from the infected lungs, suggesting that association with lung epithelial cells may provide an advantage to spore persistence in the lung. There was no or very mild inflammation in the infected lungs. Furthermore, spores were present in the lung tissue as single spores rather than in clusters. We also showed that the anthrax toxins did not play a role in persistence. Together, the results suggest that B. anthracis spores have special properties that promote their persistence in the lung, and that there may be multiple mechanisms contributing to spore persistence.

  2. 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

  3. Diagnostic approach to persistent hepatic encephalopathy.

    Science.gov (United States)

    Macías-Rodríguez, R U; Torre, A

    2011-01-01

    Hepatic encephalopathy (HE) is a complication of cirrhosis manifested by neuropsychiatric and neuromuscular changes with impact on quality of life. Clinical picture ranges from normal physical exam to stupor and coma. In persistent HE, patient never becomes free of HE. To review medical literature searching for evidence concerning persistent HE and nonclassical factors involved in its development. We identified articles by searching PubMed (1966 to January 2011), EMBASE (1980 to January 2011) and Pubgle. Relevant articles with the terms persistent AND hepatic AND encephalopathy were selected. Precipitating factors of this clinical picture were recorded. Many factors lead to HE and contribute to its persistence. The most common are gastrointestinal bleeding, spontaneous bacterial peritonitis and high protein intake. Other non-classical factors such as porto-systemic shunts, small bowel bacterial overgrowth, H. pylori infection and anemia must be considered. Identification and correction of these factors improves morbidity and mortality. It is important to recognize HE precipitants other than classical to provide the pathophysiological basis to understand persistent HE.

  4. Breastfeeding may protect against persistent stuttering.

    Science.gov (United States)

    Mahurin-Smith, Jamie; Ambrose, Nicoline G

    2013-01-01

    This study investigated the hypothesis that breastfeeding in infancy might protect against persistent stuttering in children. We collected new data from the mothers of current and past participants in the Illinois Stuttering Research Program on their children's feeding history during infancy. We obtained 47 usable responses, for 17 children with persistent stuttering and 30 children who recovered naturally after a period of stuttering. A chi-squared test for linear trend revealed a significant relationship between breastfeeding duration and the likelihood of natural recovery for the boys in the sample. Mothers of children in the persistent group were no more likely to report early feeding difficulties which might have suggested an underlying oral motor deficit in children predisposed toward persistent stuttering. Our results offer preliminary support for the idea that breastfeeding may confer a measure of protection against persistent stuttering. The fatty acid profile of human milk, with its potential to affect both gene expression and the composition of neural tissue, may explain this association. Further research is called for. The reader will be able to discuss at least one reason why human milk may make a difference in neurodevelopment generally and with regard to stuttering outcomes specifically. Additionally, the reader will be able to describe the relationship between breastfeeding duration and stuttering recovery observed in this sample. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. PERSISTENT MEDIAN ARTERY IN THE CARPAL TUNNEL

    Directory of Open Access Journals (Sweden)

    Raviprasanna.K.H

    2014-09-01

    Full Text Available Introduction: Persistent median artery originates from the anterior interosseous artery in proximal one-third of the forearm and accompanies median nerve. Median artery may regress in the forearm or enter palm through the carpal tunnel deep to flexor retinaculum of wrist and supply palm by anastomosing with the superficial palmar arch. Objective: In present study the objective was to study presence of persistent median artery accompanying median nerve and its termination Materials and Methods: The study included 50 human cadaver upper limb specimens at the Department of Anatomy, Mysore Medical College & Research Institute, Mysore during 2011-13. These specimens fixed in 10% formalin were finely dissected and persistent median artery was traced from origin to termination. Results: Out of 50 human cadaver specimens, persistent median artery was present in 4 specimens (8%. All the 4 median arteries originated from anterior interosseous artery and were of palmar type which reached palm. Out of 4 median arteries, 3 median arteries (6% took part in completion of superficial palmar arch, supplying the distal aspect of palm and 1 median artery (2% directly supplied radial two and half fingers without forming arch. Conclusion: Knowledge of unusual variations helps in proper treatment of disorders of the median nerve. Presence of persistent median artery usually will be asymptomatic but may cause symptoms of carpal tunnel syndrome or pronator teres syndrome when subjected to compression. Rarely this artery can be taken for reconstruction

  6. 人特异性蛋白激酶-15基因在增生牙龈组织中表达的研究%The expression of human-specific protein kinase-15 in the hyperplastic gingival tissues

    Institute of Scientific and Technical Information of China (English)

    梅幼敏; 宦泓; 周艳; 谢海燕; 张汝阳; 徐艳

    2012-01-01

    Objective:To detect the human-specific protein kinase-15(NYD-SP15)gene expression in normal gingival tissue and hyperplastic gingival tissues,observe the expression of NYD-SP15 protein in gingival tissues,and to explore the relationship of NYD- SP15 and gingival hyperplasia initially. Methods:Reverse transcription-polymerase chain reaction(RT-PCR)and immunohistochemical method were applicated to detect the expression of NYD-SP15 gene in gingival tissues of 27 cases of normal people and 40 cases of gingival hyperplasia patients. The normal gingival tissues were the excision of gingival tissue during crown lengthening surgery(the teeth were traumatic crown fractures),recorded as normal control group. The hyperplasia samples were the excision of gingival tissue during gingivectomy, recorded as hyperplasia group. The half of all specimens were removed and stored in nitrogen liquid immediately. The remaining half of the tissues with formalin, embedded in paraffin storage. Staining positive cells were counted under the microscope and classificated by positive degree. The data of the experiment was analyzed by Stata 9.2(StataCorporation College Station,TX)software. Results:The expression of NYD-SP15 mRNA in tissues of hyperplasia group was significantly higher than that of control group(P < 0.05). The immunohistochemistry results showed that the NYD-SP15 protein was highly expression in the cytoplasm in normal gingival tissue. But,in the hyplasia gingival tissues,the expression of NYD-SP15 protein was highly in the nucleus. Conclusion;The level of NYD-SP15 expression and location in the gingival tissues may be associated with the gingival hyperplasia. However,the relationship between them remains to be further studied.%目的:检测细胞增殖相关基因人特异性蛋白激酶-15(specific protein kinase 15,NYD-SP15)基因在增生牙龈及正常牙龈组织中的表达,初步探讨该基因与牙龈增生发生的关系.方法:应用RT-PCR及免疫组化法检测27例

  7. The economics associated with persistent pain.

    Science.gov (United States)

    Phillips, Ceri J; Harper, Christie

    2011-06-01

    This review aims to assess the economic impact of inadequate, inappropriate and ineffective treatments of persistent pain from the perspective of the individual, their families and communities, healthcare systems, economies and societies in general. The economic impact of persistent and chronic pain poses a substantial burden on individual patients, their families, employers, economies and societies in general. It is recognized that the impact of persistent pain is greater than most other health conditions, due to its effects on rates of absenteeism, reduced levels of productivity and increased risk of leaving the labour market, as well as the costs to the healthcare system and other government agencies. The burden of suffering that pain imposes on individuals and the enormous costs that society has to bear as a result clearly demonstrate that policy makers at governmental level and commissioners, and healthcare decision-makers alike should adopt a broad, strategic and coherent perspective in determining issues relating to service provision and resource allocation.

  8. 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...... recommendations, no matter whether a change in persistence occurs or not. Seven different forecasting strategies based on a biasedcorrected estimator are compared by means of a large-scale Monte Carlo study. The results for decreasing and increasing persistence are highly asymmetric and new to the literature. Its...... good predictive ability and its balanced performance among different settings strongly advocate the use of forecasting strategies based on the Bai-Perron procedure....

  9. Treatment of persistent pain from torture

    DEFF Research Database (Denmark)

    Williams, Amanda C de C; Amris, Kirstine

    2016-01-01

    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......Torture and the conditions under which it is inflicted often leave persistent painful disorders. Because there may be no lasting signs, persistent pain is often misconceived as a somatic representation of psychological distress, also common after torture. This serious failure to understand...... associated with psychological distress and of the broader problems faced by the refugee and torture survivor that may take priority over pain. We propose clinical and research implications for this neglected field....

  10. 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....... Fourteen patients (8.2%) reported pain within the past 7 days related to the abdominoplasty. Abnormal abdominal skin sensation was common and reported by 138 patients (81%). Sensory hypersensitivity was associated with the presence of persistent pain. Satisfaction with the procedure was reported by 149 (88...... sensation was common. However, there is a risk of developing persistent neuropathic pain after abdominoplasty, and patients should be informed about this before surgery....

  11. 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...

  12. Spreading of Persistent Infections in Heterogeneous Populations

    CERN Document Server

    Sanz, J; Moreno, Y

    2010-01-01

    Up to now, the effects of having heterogeneous networks of contacts have been studied mostly for diseases which are not persistent in time, i.e., for diseases where the infectious period can be considered very small compared to the lifetime of an individual. Moreover, all these previous results have been obtained for closed populations, where the number of individuals does not change during the whole duration of the epidemics. Here, we go one step further and analyze, both analytically and numerically, a radically different kind of diseases: those that are persistent and can last for an individual's lifetime. To be more specific, we particularize to the case of Tuberculosis' (TB) infection dynamics, where the infection remains latent for a period of time before showing up and spreading to other individuals. We introduce an epidemiological model for TB-like persistent infections taking into account the heterogeneity inherent to the population structure. This sort of dynamics introduces new analytical and numer...

  13. 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

  14. 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.

  15. Modelling persistence in annual Australia point rainfall

    Directory of Open Access Journals (Sweden)

    J. P. Whiting

    2003-01-01

    Full Text Available Annual rainfall time series for Sydney from 1859 to 1999 is analysed. Clear evidence of nonstationarity is presented, but substantial evidence for persistence or hidden states is more elusive. A test of the hypothesis that a hidden state Markov model reduces to a mixture distribution is presented. There is strong evidence of a correlation between the annual rainfall and climate indices. Strong evidence of persistence of one of these indices, the Pacific Decadal Oscillation (PDO, is presented together with a demonstration that this is better modelled by fractional differencing than by a hidden state Markov model. It is shown that conditioning the logarithm of rainfall on PDO, the Southern Oscillation index (SOI, and their interaction provides realistic simulation of rainfall that matches observed statistics. Similar simulation models are presented for Brisbane, Melbourne and Perth. Keywords: Hydrological persistence,hidden state Markov models, fractional differencing, PDO, SOI, Australian rainfall

  16. Persistent postsurgical pain: risk factors and prevention

    DEFF Research Database (Denmark)

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

    2006-01-01

    Acute postoperative pain is followed by persistent pain in 10-50% of individuals after common operations, such as groin hernia repair, breast and thoracic surgery, leg amputation, and coronary artery bypass surgery. Since chronic pain can be severe in about 2-10% of these patients, persistent...... 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...

  17. 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.

  18. 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.

  19. MRI and pathology in persistent postherniotomy pain

    DEFF Research Database (Denmark)

    Aasvang, Eske Kvanner; Jensen, Karl-Erik; Fiirgaard, Bente

    2009-01-01

    groins versus unoperated and pain-free groins. RESULTS: Interobserver agreement was poor, ranging from kappa = 0.24 to 0.55 ("fair" to "moderate") except for "contrast enhancement in groin" (kappa = 0.69, substantial). Pathologic changes in the form of "contrast enhancement in groin," "edema......: Interobserver agreement is low and MRI-assessed pathology unspecific for persistent postherniotomy pain. Additional studies are required on interobserver agreement for pathology before MRI can be recommended as guidance and indication for surgical treatment of persistent postherniotomy pain....

  20. An ODBMS Approach to Persistency in CMS

    CERN Document Server

    Innocente, V

    2000-01-01

    Persistent object management has been always at the centre of the CMS Analysis and Reconstruction Framework ( CARF). Already the very first prototypes had an ODBMS database ( Objectivity/DB) as the key component. Today, Objectivity/DB is fully integrated into CARF. The present version of CARF offers persistent object management for event structure and meta-data. In particular it manages raw data from test-beams, simulated objects ( particles, hits and digis) and reconstructed objects common to test-beams and simulation. CARF is used for detector performance and high level trigger studies. A review of experiences will be presented.

  1. Persistence and drug tolerance in pathogenic yeast

    DEFF Research Database (Denmark)

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

    2017-01-01

    leading to drug recalcitrance is the formation of antifungal persister cells. These cells have wild-type genotype with the ability to survive exposure to antifungal agents due to changed membrane composition, upregulated stress response, and enhanced cell wall integrity. Knowledge of the mechanisms...... are quiescent in G0 of the cell cycle. This knowledge leads us to suggest that the identified shared drug-tolerance mechanisms of persister and quiescent cells may serve as a foundation for developing novel treatment strategies that are independent of growth mode against systemic fungal infections....

  2. Persistent current in small superconducting rings.

    Science.gov (United States)

    Schwiete, Georg; Oreg, Yuval

    2009-07-17

    We study theoretically the contribution of fluctuating Cooper pairs to the persistent current in superconducting rings threaded by a magnetic flux. For sufficiently small rings, in which the coherence length xi exceeds the radius R, mean field theory predicts a full reduction of the transition temperature to zero near half-integer flux. We find that nevertheless a very large current is expected to persist in the ring as a consequence of Cooper pair fluctuations that do not condense. For larger rings with R>xi, we calculate analytically the susceptibility in the critical region of strong fluctuations and show that it reflects competition of two interacting complex order parameters.

  3. 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 partia

  4. 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 appare...

  5. Measles virus, immune control and persistence

    Science.gov (United States)

    Griffin, Diane E.; Lin, Wen-Hsuan; Pan, Chien-Hsiung

    2012-01-01

    Measles remains one of the most important causes of child morbidity and mortality worldwide with the greatest burden in the youngest children. Most acute measles deaths are due to secondary infections that result from a poorly understood measles-induced suppression of immune responses. Young children are also vulnerable to late development of subacute sclerosing panencephalitis, a progressive, uniformly fatal neurologic disease caused by persistent measles virus (MeV) infection. During acute infection, the rash marks the appearance of the adaptive immune response and CD8+ T cell-mediated clearance of infectious virus. However, after clearance of infectious virus, MeV RNA persists and can be detected in blood, respiratory secretions, urine and lymphoid tissue for many weeks to months. This prolonged period of virus clearance may help to explain measles immunosuppression and the development of lifelong immunity to re-infection, as well as occasional infection of the nervous system. Once MeV infects neurons, the virus can spread transynaptically and the envelope proteins needed to form infectious virus are unnecessary, accumulate mutations and can establish persistent infection. Identification of the immune mechanisms required for clearance of MeV RNA from multiple sites will enlighten our understanding of the development of disease due to persistent infection. PMID:22316382

  6. Mechanisms of HIV persistence in HIV reservoirs.

    Science.gov (United States)

    Mzingwane, Mayibongwe L; Tiemessen, Caroline T

    2017-03-01

    The establishment and maintenance of HIV reservoirs that lead to persistent viremia in patients on antiretroviral drugs remains the greatest challenge of the highly active antiretroviral therapy era. Cellular reservoirs include resting memory CD4+ T lymphocytes, implicated as the major HIV reservoir, having a half-life of approximately 44 months while this is less than 6 hours for HIV in plasma. In some individuals, persistent viremia consists of invariant HIV clones not detected in circulating resting CD4+ T lymphocytes suggesting other possible sources of residual viremia. Some anatomical reservoirs that may harbor such cells include the brain and the central nervous system, the gastrointestinal tract and the gut-associated lymphoid tissue and other lymphoid organs, and the genital tract. The presence of immune cells and other HIV susceptible cells, occurring in differing compositions in anatomical reservoirs, coupled with variable and poor drug penetration that results in suboptimal drug concentrations in some sites, are all likely factors that fuel the continued low-level replication and persistent viremia during treatment. Latently, HIV-infected CD4+ T cells harboring replication-competent virus, HIV cell-to-cell spread, and HIV-infected T cell homeostatic proliferation due to chronic immune activation represent further drivers of this persistent HIV viremia during highly active antiretroviral therapy. Copyright © 2017 John Wiley & Sons, Ltd.

  7. 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

  8. Prerequisites for Persistence in Distance Education

    Science.gov (United States)

    Ekstrand, Britten

    2013-01-01

    In the last two decades, distance education has grown worldwide and is now established as a reliable educational method. Accompanying this development, questions about low rates of student persistence have come to interest governments, institutions, and university management. This article is based on an original local study at a university in…

  9. Undergraduate Women's Persistence in the Sciences

    Science.gov (United States)

    George-Jackson, Casey E.

    2014-01-01

    This study uses longitudinal data of undergraduate students from five public land-grant universities to better understand undergraduate students' persistence in and switching of majors, with particular attention given to women's participation in science, technology, engineering, and mathematics (STEM) fields. Specifically, the study examines…

  10. 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.

  11. 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…

  12. Prerequisites for Persistence in Distance Education

    Science.gov (United States)

    Ekstrand, Britten

    2013-01-01

    In the last two decades, distance education has grown worldwide and is now established as a reliable educational method. Accompanying this development, questions about low rates of student persistence have come to interest governments, institutions, and university management. This article is based on an original local study at a university in…

  13. 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 maj

  14. Improving Underrepresented Minority Student Persistence in STEM

    Science.gov (United States)

    Estrada, Mica; Burnett, Myra; Campbell, Andrew G.; Campbell, Patricia B.; Denetclaw, Wilfred F.; Gutiérrez, Carlos G.; Hurtado, Sylvia; John, Gilbert H.; Matsui, John; McGee, Richard; Okpodu, Camellia Moses; Robinson, T. Joan; Summers, Michael F.; Werner-Washburne, Maggie; Zavala, MariaElena

    2016-01-01

    Members of the Joint Working Group on Improving Underrepresented Minorities (URMs) Persistence in Science, Technology, Engineering, and Mathematics (STEM)--convened by the National Institute of General Medical Sciences and the Howard Hughes Medical Institute--review current data and propose deliberation about why the academic "pathways"…

  15. 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 fr

  16. 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

  17. High School Economic Composition and College Persistence

    Science.gov (United States)

    Niu, Sunny X.; Tienda, Marta

    2013-01-01

    Using a longitudinal sample of Texas high school seniors of 2002 who enrolled in college within the calendar year of high school graduation, we examine variation in college persistence according to the economic composition of their high schools, which serves as a proxy for unmeasured high school attributes that are conductive to postsecondary…

  18. Anger Expression and Persistence in Young Children

    Science.gov (United States)

    He, Jie; Xu, Qinmei; Degnan, Kathryn Amey

    2012-01-01

    This study investigated anger expression during toy removal (TR) in 92 young Chinese children, two to five years of age, and its relations to their persistence in responding to obstacles during two challenging tasks with highly desirable goals [TR and locked box (LB)] and one challenging task with a less desirable goal [impossible perfect circles…

  19. Persistent congenital milia with naevus spilus

    Directory of Open Access Journals (Sweden)

    Mishra Dharmendra

    1995-01-01

    Full Text Available We are reporting a case of solitary persistent left-sided endoareolar congenital milia in association with no serious malformation or abnormality of any structure except the presence of naevus spilus, on the back of the ipsilateral forearm.

  20. Diversity, Persistence and Evolution in Marine Sediments

    DEFF Research Database (Denmark)

    Starnawski, Piotr

    2016-01-01

    detailed study we were also able to trace not only the same phyla but also the same species from the surface down to the deepest sediment. We’ve described these species as ”persister organisms”, and continued the work on describing them further. By using sequencing and bioinformatics tools we were able...

  1. Persistent organic pollutants and male reproductive health

    DEFF Research Database (Denmark)

    Vested, Anne; Giwercman, Aleksander; Bonde, Jens Peter

    2014-01-01

    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 su...

  2. Persistent pollution. Past, present and future

    Energy Technology Data Exchange (ETDEWEB)

    Quante, Markus; Ebinghaus, Ralf; Floeser, Goetz (eds.) [Helmholtz-Zentrum Geesthacht (Germany). Inst. of Coastal Research

    2011-07-01

    This book evolved from the 5th School of Environmental Research entitled ''Persistent Pollution - Past, Present and Future'', which has set a focus on Persistent Organic Pollutants (POPs), heavy metals and aerosols. Research topics covered by the School included the - reconstruction of past changes based on the scientific analysis of natural archives such as ice cores and peat deposits, - evaluation of the present environmental state by the integration of measurements and modelling and the establishment of cause-effect-patterns, - assessment of possible environmental future scenarios including emission and climate change perspectives. Leading scientists in the field of Marine and Atmospheric Chemistry, Meteorology and Modelling, Environmental Chemistry and Physics, as well as Environmental Policy and Management have prepared manuscripts. The book consists of 19 contributions prepared by more than 40 authors. The structure of the book has been outlined according to the topics addressed by the School and includes synthesis chapters which look into the history and reconstruction of environmental pollution, address emission questions, provide a closer look on selected persistent pollutants, deal with transport and modelling aspects, shed light on some health issues related to persistent pollutants, and discuss emerging contaminants in the atmospheric and marine environment. (orig.)

  3. Adherenec and persistence with antihypertensive drugs

    NARCIS (Netherlands)

    Wijk, B.L.G. van

    2006-01-01

    The aim of this thesis was to assess the prevalence and determinants of non-adherence and non-persistence with antihypertensive drugs and to provide suggestions for intervening to improve it among non-adherent patients with hypertension. This thesis is divided into three parts. The first part descri

  4. Persistent cognitive impairment after transient ischemic attack

    NARCIS (Netherlands)

    Rooij, F.G. van; Schaapsmeerders, P.; Maaijwee, N.A.; Duijnhoven, D.A. van; Leeuw, F.E. de; Kessels, R.P.; Dijk, E.J. van

    2014-01-01

    BACKGROUND AND PURPOSE: By definition, the symptoms of a transient ischemic attack (TIA) subside completely within 24 hours. Imaging studies show signs of persistent ischemic tissue damage in a substantial amount of patients with TIA. Cerebral infarction can cause permanent cognitive impairment. Whe

  5. Persistent Cognitive Impairment After Transient Ischemic Attack

    NARCIS (Netherlands)

    Rooij, F.G. van; Schaapsmeerders, P.; Maaijwee, N.A.M.M.; Duijnhoven, D.A. van; de Leeuw, F.E.; Kessels, R.P.C.; Dijk, E.J. van

    2014-01-01

    Background and Purpose—By definition, the symptoms of a transient ischemic attack (TIA) subside completely within 24 hours. Imaging studies show signs of persistent ischemic tissue damage in a substantial amount of patients with TIA. Cerebral infarction can cause permanent cognitive impairment. Whet

  6. Persistence in eye movement during visual search

    Science.gov (United States)

    Amor, Tatiana A.; Reis, Saulo D. S.; Campos, Daniel; Herrmann, Hans J.; Andrade, José S.

    2016-02-01

    As any cognitive task, visual search involves a number of underlying processes that cannot be directly observed and measured. In this way, the movement of the eyes certainly represents the most explicit and closest connection we can get to the inner mechanisms governing this cognitive activity. Here we show that the process of eye movement during visual search, consisting of sequences of fixations intercalated by saccades, exhibits distinctive persistent behaviors. Initially, by focusing on saccadic directions and intersaccadic angles, we disclose that the probability distributions of these measures show a clear preference of participants towards a reading-like mechanism (geometrical persistence), whose features and potential advantages for searching/foraging are discussed. We then perform a Multifractal Detrended Fluctuation Analysis (MF-DFA) over the time series of jump magnitudes in the eye trajectory and find that it exhibits a typical multifractal behavior arising from the sequential combination of saccades and fixations. By inspecting the time series composed of only fixational movements, our results reveal instead a monofractal behavior with a Hurst exponent , which indicates the presence of long-range power-law positive correlations (statistical persistence). We expect that our methodological approach can be adopted as a way to understand persistence and strategy-planning during visual search.

  7. Persistent Homology for Random Fields and Complexes

    CERN Document Server

    Adler, Robert J; Borman, Matthew S; Subag, Eliran; Weinberger, Shmuel

    2010-01-01

    We discuss and review recent developments in the area of applied algebraic topology, such as persistent homology and barcodes. In particular, we discuss how these are related to understanding more about manifold learning from random point cloud data, the algebraic structure of simplicial complexes determined by random vertices, and, in most detail, the algebraic topology of the excursion sets of random fields.

  8. High Stakes and Persistent Challenges –

    DEFF Research Database (Denmark)

    Holtermann, Jakob v. H.; Madsen, Mikael Rask

    2015-01-01

    challenge to doctrinal scholarship. We argue that Klabbers underestimates the evergreen and persistent character of this challenge when he portrays the current push for New Legal Realism as merely a whimsy fashion wave. And we argue that Augsberg's essentially Kelsenian defence of doctrinal scholarship...

  9. 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

  10. 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.

  11. Kaposi’s Sarcoma Herpesvirus Genome Persistence

    Directory of Open Access Journals (Sweden)

    Franceline Juillard

    2016-08-01

    Full Text Available Kaposi’s sarcoma-associated herpesvirus (KSHV has an etiologic role in Kaposi’s sarcoma, primary effusion lymphoma and multicentric Castleman’s disease. These diseases are most common in immunocompromised individuals, especially those with AIDS. Similar to all herpesviruses, KSHV infection is lifelong. KSHV infection in tumor cells is primarily latent, with only a small subset of cells undergoing lytic infection. During latency, the KSHV genome persists as a multiple copy, extrachromosomal episome in the nucleus. In order to persist in proliferating tumor cells, the viral genome replicates once per cell cycle and then segregates to daughter cell nuclei. KSHV only expresses several genes during latent infection. Prominent among these genes, is the latency-associated nuclear antigen (LANA. LANA is responsible for KSHV genome persistence and also exerts transcriptional regulatory effects. LANA mediates KSHV DNA replication and in addition, is responsible for segregation of replicated genomes to daughter nuclei. LANA serves as a molecular tether, bridging the viral genome to mitotic chromosomes to ensure that KSHV DNA reaches progeny nuclei. N-terminal LANA attaches to mitotic chromosomes by binding histones H2A/H2B at the surface of the nucleosome. C-terminal LANA binds specific KSHV DNA sequence and also has a role in chromosome attachment. In addition to the essential roles of N- and C-terminal LANA in genome persistence, internal LANA sequence is also critical for efficient episome maintenance. LANA’s role as an essential mediator of virus persistence makes it an attractive target for inhibition in order to prevent or treat KSHV infection and disease.

  12. 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

  13. Persistence Length of DNA Macromolecule with Kinks

    CERN Document Server

    Simonov, Kyrylo

    2014-01-01

    The study of configurational parameters of deformed DNA is a relevant problem in research of such important biological process as double helix compactization in cell. The deformations accompanied with local disruptions of the regular macromolecule structure cause significant bending of the double helix, or kinks. In this paper an approach for Kratky-Porod model to calculate persistence length of DNA macromolecule with kinks is developed. The presented approach considers kinks of arbitrary configuration, including two basic types of kinks, type 1 - sharp kink caused by unstacking a single base pair step, and type 2 - intrinsic-induced kink that involves several base pairs. Within developed approach analytical expressions for persistence length, coil size and gyration radius of kinky double helix were obtained.

  14. 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...... LCT is responsible for lactase persistence and appears to have been under strong directional selection in the last 5,000 years, evidenced by the widespread occurrence of this allele on an extended haplotype. In Africa and the Middle East, the situation is more complicated and at least three other...... alleles (−13907∗G, rs41525747; −13915∗G, rs41380347; −14010∗C, rs145946881) in the same LCT enhancer region can cause continued lactase expression. Here we examine the LCT enhancer sequence in a large lactose-tolerance-tested Ethiopian cohort of more than 350 individuals. We show that a further SNP...

  15. 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....

  16. 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.

  17. Nicotine replacement therapies: patient safety and persistence

    Directory of Open Access Journals (Sweden)

    Ferguson SG

    2011-06-01

    Full Text Available Stuart G Ferguson1,2, Saul Shiffman3,4, Joseph G Gitchell51School of Pharmacy, 2Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia; 3Pinney Associates, 4University of Pittsburgh, Pittsburgh, PA, USA; 5Pinney Associates, Bethesda, MD, USAAbstract: Nicotine replacement therapy (NRT has become a central part of the treatment of nicotine dependence. However, NRT’s potential efficacy is limited to some extent by patient adherence and persistence. Here we review the relationship between NRT compliance and adherence, and overall treatment outcome. We then examine the factors that likely impact on treatment compliance and persistence, with a special focus on users’ perceptions of treatment safety and efficacy as possible mediators. Potential clinical strategies for improving suboptimal medication use are also discussed.Keywords: nicotine replacement therapy, compliance, safety

  18. 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.

  19. Are shocks to commodity prices persistent?

    Energy Technology Data Exchange (ETDEWEB)

    Narayan, Paresh Kumar; Liu, Ruipeng [School of Accounting, Economics and Finance, Deakin University (Australia)

    2011-01-15

    This paper considers the issue of whether shocks to ten commodity prices (gold, silver, platinum, copper, aluminum, iron ore, lead, nickel, tin, and zinc) are persistent or transitory. We use two recently developed unit root tests, namely the Narayan and Popp (NP) test and the Liu and Narayan (LN) test. Both tests allow for two structural breaks in the data series. Using the NP test, we are able to reject the unit root null for iron ore and tin. Using the GARCH-based unit root test of LN, we are able to reject the unit root null for five commodity prices (iron ore, nickel, zinc, lead, and tin). Our findings, thus, suggest that only shocks to gold, silver, platinum, aluminum, and copper are persistent. (author)

  20. Persistence and dynamics in the ANNNI chain

    Energy Technology Data Exchange (ETDEWEB)

    Sen, Parongama; Dasgupta, Subinay [Department of Physics, University of Calcutta, 92 Acharya Prafulla Chandra Road, Kolkata 700 009 (India)

    2004-12-17

    We investigate both the local and global persistence behaviour in the ANNNI (axial next-nearest-neighbour Ising) model. We find that when the ratio {kappa} of the second neighbour interaction to the first neighbour interaction is less than 1, P(t), the probability of a spin to remain in its original state up to time t shows a stretched exponential decay. For {kappa} > 1, P(t) has an algebraic decay but the exponent is different from that of the nearest-neighbour Ising model. The global persistence behaviour shows similar features. We also conduct some deeper investigations in the dynamics of the ANNNI model and conclude that it has a different dynamical behaviour compared to the nearest-neighbour Ising model.

  1. Trends in Social Media : Persistence and Decay

    CERN Document Server

    Asur, Sitaram; Szabo, Gabor; Wang, Chunyan

    2011-01-01

    Social media generates a prodigious wealth of real-time content at an incessant rate. From all the content that people create and share, only a few topics manage to attract enough attention to rise to the top and become temporal trends which are displayed to users. The question of what factors cause the formation and persistence of trends is an important one that has not been answered yet. In this paper, we conduct an intensive study of trending topics on Twitter and provide a theoretical basis for the formation, persistence and decay of trends. We also demonstrate empirically how factors such as user activity and number of followers do not contribute strongly to trend creation and its propagation. In fact, we find that the resonance of the content with the users of the social network plays a major role in causing trends.

  2. Management of persistent postsurgical inguinal pain

    DEFF Research Database (Denmark)

    Werner, Mads U

    2014-01-01

    PURPOSE: Severe persistent pain is a major postsurgical complication affecting 2-4 % of patients following inguinal hernia repair and may cause critical physical and socioeconomic disability. This review introduces relevant criteria and analyses the current evidence base underlying recommended...... management strategies. RESULTS: Development of persistent postsurgical pain (PPP) following inguinal hernia repair cannot automatically be considered to follow a simple trajectory from acute to chronic pain. Surgical management comprising neurectomy with or without meshectomy was described in 25 studies...... patients with severe PPP following inguinal hernia repair. The evidence base for other management methods is still fragile, although promising results appear in the neuromodulation studies. CONCLUSIONS: There is a need for improved study designs and, launching of large multicenter collaborative studies...

  3. [Persistent hyperinsulinemic hypoglycemia of the neonate].

    Science.gov (United States)

    Maglajlić, Svjetlana; Jesić, Milos; Necić, Svetislav; Lukac, Marija; Sindjić, Sanja; Jesić, Maja; Vujović, Dragana

    2004-10-01

    Persistent hyperinsulinemic hypoglicemia of the neonate is a rare heterogenous disease (clinically, histologically, metabolically and genetically), which is characterized by inadequatly high insuline rates in the presence of severe hypoglicemia. Hyperinsulinism, rather a syndrome than a disease, of which the main metabolic feature is hypoglicemia and decreased concentration of free fatty acids and ketones in serum (insulin inhibits lypolisis and synthesizes ketonic bodies), presents a major diagnostic and therapeutic chalenge. The disease is often followed by brain atrophy contributed by the attacks of hypoglicemia. It is inherited as an autosomally recessive and autosomally dominant disease. The genetic defects is located on the short arm of the chromosome 11. The authors report a successfully applied conservative treatment in a neonate with persistent hyperinsulinemic hypoglicemia.

  4. Emotional persistence in online chatting communities

    CERN Document Server

    Garas, Antonios; Skowron, Marcin; Schweitzer, Frank; 10.1038/srep00402

    2012-01-01

    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 emotiona...

  5. 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

  6. UAV Cooperation Architectures for Persistent Sensing

    Energy Technology Data Exchange (ETDEWEB)

    Roberts, R S; Kent, C A; Jones, E D

    2003-03-20

    With the number of small, inexpensive Unmanned Air Vehicles (UAVs) increasing, it is feasible to build multi-UAV sensing networks. In particular, by using UAVs in conjunction with unattended ground sensors, a degree of persistent sensing can be achieved. With proper UAV cooperation algorithms, sensing is maintained even though exceptional events, e.g., the loss of a UAV, have occurred. In this paper a cooperation technique that allows multiple UAVs to perform coordinated, persistent sensing with unattended ground sensors over a wide area is described. The technique automatically adapts the UAV paths so that on the average, the amount of time that any sensor has to wait for a UAV revisit is minimized. We also describe the Simulation, Tactical Operations and Mission Planning (STOMP) software architecture. This architecture is designed to help simulate and operate distributed sensor networks where multiple UAVs are used to collect data.

  7. Persistence of innovation in unstable environments

    DEFF Research Database (Denmark)

    Suarez, Diana Valeria

    2014-01-01

    The concept of persistence is generally used to define the positive relationship between past and present innovations, which is explained by feedback and accumulation processes triggered by the firm's past results. This paper states that changes in the economic or institutional conditions...... 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...... and capabilities it allocates to innovate could be modified. Empirical evidence is provided to reject the persistence hypothesis and to show that past innovations do not necessarily impact present ones. This paper examines the relationship between past and present innovations for a group of Argentinean firms...

  8. The persistence of American Indian health disparities.

    Science.gov (United States)

    Jones, David S

    2006-12-01

    Disparities in health status between American Indians and other groups in the United States have persisted throughout the 500 years since Europeans arrived in the Americas. Colonists, traders, missionaries, soldiers, physicians, and government officials have struggled to explain these disparities, invoking a wide range of possible causes. American Indians joined these debates, often suggesting different explanations. Europeans and Americans also struggled to respond to the disparities, sometimes working to relieve them, sometimes taking advantage of the ill health of American Indians. Economic and political interests have always affected both explanations of health disparities and responses to them, influencing which explanations were emphasized and which interventions were pursued. Tensions also appear in ongoing debates about the contributions of genetic and socioeconomic forces to the pervasive health disparities. Understanding how these economic and political forces have operated historically can explain both the persistence of the health disparities and the controversies that surround them.

  9. Toll Like Receptor-4 Involved in The Mechanism of Hyperplastic Scarring via TGF-β%Toll样受体4通过转化生长因子β1参与增生性瘢痕形成的机制研究

    Institute of Scientific and Technical Information of China (English)

    范鹏举; 杨兴华; 肖目张; 龙剑虹; 雷少榕

    2011-01-01

    Hyperplastic scar, a fibroproliferative disorder, complicates wound healing. Although the pathogenesis is not well understood, prolonged inflammation is a known contributing factor. Emerging evidence suggests that fibroblasts regulate immune/inflammatory responses through toll-like receptor 4 (TLR-4) activated by lipopolysaccharide (LPS), leading to nuclear factor-icB (NF-kB) and mitogen-activated protein kinases (MAPK.) activation, cytokine gene transcription and co-stimulatory molecule expression and resulting in inflammation. So the possible roles of TLR-4 in hyperplastic scar formation need to be explored. Paired normal and hyperplastic scar tissue was collected and dermal fibroblasts isolated and cultured. Quantitative RT-PCR of pairs of fibroblasts demonstrated mRNA levels for TLR4 and its legend myeloid differentiation factor 88 (MyD88) in hyperplastic scar fibroblasts (HSFB) were increased significantly compared with normal fibroblasts (NFB). When paired normal and HSFB were stimulated with LPS, significant increases in mRNA and protein levels for TLR-4, MyD88, transforming growth factor-betal (TGF-β1) and I procollagen were detected. However, when transfected with MyD88 small interfering RNA (siRNA) in HSFB, then stimulated with LPS, a significant decrease in mRNA and protein levels for these molecules compared to only LPS-stimulated fibroblasts was detected. In comparison, a scramble siRNA transfection did not affect mRNA or protein levels for these molecules. Results demonstrate LPS stimulates proinflammatory cytokine expression in dermal fibroblasts and MyD88 siRNA eliminates the expression. Therefore, controlling inflammation and manipulating TLR signaling in skin cells may result in novel treatment strategies for hyperplastic scar.%增生性瘢痕是机体在创伤后过度修复的表现形式之一,其发病机制并不十分明确.最近有证据显示,成纤维细胞能在脂多糖(lipopolysaccharide,LPS)的作用下,激活toll样受体4(toll

  10. Measuring inflation persistence in Brazil using a multivariate model

    Directory of Open Access Journals (Sweden)

    Vicente da Gama Machado

    2014-06-01

    Full Text Available We estimate inflation persistence in Brazil in a multivariate framework of unobserved components, accounting for the following sources affecting inflation persistence: Deviations of expectations from the actual policy target; persistence of the factors driving inflation; and the usual intrinsic measure of persistence, evaluated through lagged inflation terms. Data on inflation, output and interest rates are decomposed into unobserved components. To simplify the estimation of a great number of unknown variables, we employ Bayesian analysis. Our results indicate that expectations-based persistence matters considerably for inflation persistence in Brazil.

  11. A Library for Managing Persistent Storage

    Science.gov (United States)

    2016-06-14

    errors occur in the heap library , the routines normally return the value -1. At the same time, a pointer to a more informative error message is left in...A Library for Managing Persistent Storage Dennis Heimbigner CU-CS-3.5 1-86 March 1988 Revisions: April 3, 1987 February .5, 1988 March 9, 1988...Department of Computer Science Campus Box 430 University of Colorado Boulder, CO 80309-0430 The authors gratefully acknowledge the support of the

  12. Persistent Organic Pollutants and Type 2 Diabetes

    DEFF Research Database (Denmark)

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

    2013-01-01

    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...... and total PCBs, respectively. CONCLUSIONS: These findings support an association between POP exposure and the risk of type 2 diabetes....

  13. Stability of Topological Persistence for Domains

    Science.gov (United States)

    2006-02-01

    University Press, 2002. [7] J. Milnor. Morse Theory. Princeton University Press, 1963. [8] Joseph J. Rotman . An Introduction to Algebraic Topology...groups For a topological space , the th homology group is an algebraic encoding of the connectivity of in the th dimension. For a good...persistence and simplification. In Proc. 41st Annu. IEEE Sympos. Found. Comput. Sci., pages 454–463, 2000. [6] A. Hatcher. Algebraic Topology. Cambridge

  14. Persistent Confusion and Controversy Surrounding Gene Patents

    Science.gov (United States)

    Guerrini, Christi J.; Majumder, Mary A.; McGuire, Amy L.

    2016-01-01

    There is persistent confusion and controversy surrounding basic issues of patent law relevant to the genomics industry. Uncertainty and conflict can lead to the adoption of inefficient practices and exposure to liability. The development of patent-specific educational resources for industry members, as well as the prompt resolution of patentability rules unsettled by recent U.S. Supreme Court decisions, are therefore urgently needed. PMID:26849516

  15. Explaining evolution via constrained persistent perfect phylogeny.

    Science.gov (United States)

    Bonizzoni, Paola; Carrieri, Anna Paola; Della Vedova, Gianluca; Trucco, Gabriella

    2014-01-01

    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. 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. A preliminary experimental analysis shows that the constrained persistent perfect phylogeny model allows to explain efficiently data that do not

  16. Persistent organic pollutants and male reproductive health

    OpenAIRE

    Anne Vested; Aleksander Giwercman; Jens Peter Bonde; Gunnar Toft

    2014-01-01

    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 ...

  17. Pregnancy persistently affects memory T cell populations.

    Science.gov (United States)

    Kieffer, Tom E C; Faas, Marijke M; Scherjon, Sicco A; Prins, Jelmer R

    2017-02-01

    Pregnancy is an immune challenge to the maternal immune system. The effects of pregnancy on maternal immunity and particularly on memory T cells during and after pregnancy are not fully known. This observational study aims to show the short term and the long term effects of pregnancy on the constitution, size and activation status of peripheral human memory T-lymphocyte populations. Effector memory (EM) and central memory (CM) T-lymphocytes were analyzed using flow cytometry of peripheral blood from 14 nulligravid, 12 primigravid and 15 parous women that were on average 18 months postpartum. The short term effects were shown by the significantly higher CD4+ EM cell and activated CD4+ memory cell proportions in primigravid women compared to nulligravid women. The persistent effects found in this study were the significantly higher proportions of CD4+ EM, CD4+ CM and activated memory T cells in parous women compared to nulligravid women. In contrast to CD4+ cells, activation status of CD8+ memory cells did not differ between the groups. This study shows that pregnancy persistently affects the pre-pregnancy CD4+ memory cell pool in human peripheral blood. During pregnancy, CD4+ T-lymphocytes might differentiate into EM cells followed by persistent higher proportions of CD4+ CM and EM cells postpartum. The persistent effects of pregnancy on memory T cells found in this study support the hypothesis that memory T cells are generated during pregnancy and that these cells could be involved in the lower complication risks in multiparous pregnancies in humans.

  18. Persistent docetaxel-induced supravenous erythematous eruption*

    OpenAIRE

    Fernandes, Karina de Almeida Pinto; Felix, Paulo Antônio Oldani

    2015-01-01

    Taxanes are drugs used to treat many types of cancer, including breast and lung cancer. The most common side effects of these drugs are neutropenia and mucositis. Signs of skin toxicity are observed in about 65% of cases and include alopecia, hypersensitivity reactions, persistent supravenous erythematous eruption, nail changes, scleroderma reactions and others. We report two cases of skin reaction to docetaxel and warn that it is not necessary to interrupt the treatment in these cases.

  19. Benign paroxysmal positional vertigo recurrence and persistence

    OpenAIRE

    Ricardo S. Dorigueto; Mazzetti,Karen R; Gabilan,Yeda Pereira L; Ganança, Fernando Freitas [UNIFESP

    2009-01-01

    Benign paroxysmal positional vertigo (BPPV) is one of the most common vestibular disorders. AIM: To study the recurrence and persistence of BPPV in patients treated with canalith repositioning maneuvers (CRM) during the period of one year. STUDY DESIGN: longitudinal contemporary cohort series. MATERIALS AND METHODS: One hundred patients with BPPV were followed up during 12 months after a treatment with CRM. Patients were classified according to disease evolution. Aquatic physiotherapy for ves...

  20. Monetary policy implementation and overnight rate persistence

    OpenAIRE

    Nautz, Dieter; Scheithauer, Jan

    2009-01-01

    Overnight money market rates are the predominant operational target of monetary policy. As a consequence, central banks have redesigned the implementation of monetary policy to keep the deviations of the overnight rate from the key policy rate small and short-lived. This paper uses fractional integration techniques to explore how the operational framework of four major central banks affects the persistence of overnight rates. Our results suggest that a well-communicated and transparent intere...

  1. Monetary Policy Implementation and Overnight Rate Persistence

    OpenAIRE

    Nautz, Dieter; Scheithauer, Jan

    2009-01-01

    Overnight money market rates are the predominant operational target of monetary policy. As a consequence, central banks have redesigned the implementation of monetary policy to keep the deviations of the overnight rate from the key policy rate small and short-lived. This paper uses fractional integration techniques to explore how the operational framework of four major central banks affects the persistence of overnight rates. Our results suggest that a well-communicated and transparent intere...

  2. Monetary policy implementation and overnight rate persistence

    OpenAIRE

    Nautz, Dieter; Scheithauer, Jan

    2010-01-01

    Overnight money market rates are the predominant operational target of monetary policy. As a consequence, central banks have redesigned the implementation of monetary policy to keep the deviations of the overnight rate from the key policy rate small and short-lived. This paper uses fractional integration techniques to explore how the operational framework of four major central banks affects the persistence of overnight rates. Our results suggest that a well-communicated and transparent intere...

  3. [Surgical facial reanimation after persisting facial paralysis].

    Science.gov (United States)

    Pasche, Philippe

    2011-10-01

    Facial reanimation following persistent facial paralysis can be managed with surgical procedures of varying complexity. The choice of the technique is mainly determined by the cause of facial paralysis, the age and desires of the patient. The techniques most commonly used are the nerve grafts (VII-VII, XII-VII, cross facial graft), dynamic muscle transfers (temporal myoplasty, free muscle transfert) and static suspensions. An intensive rehabilitation through specific exercises after all procedures is essential to archieve good results.

  4. [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.

  5. [Endogenous persistent hypoglicemia of adult: case report].

    Science.gov (United States)

    Costa, Raquel R; Maia, Frederico F R; Araújo, Levimar R

    2007-02-01

    Persistent Hyperinsulinemic Endogenous hypoglycemia in adults is, in most cases, due to Insulinoma. Nesidioblastosis, a peculiar functional hyperinsulinemia from hypertrophic beta cells, has been described mainly in newborns. This article describes a 34-year-old patient who presented hyperinsulinemic endogenous hypoglycemia clinical and laboratorial situation (Fasting glycemia: 54 mg/dl / Reference Interval (RI): 60-99 mg/dl; Serum insulin: 70.9 mcU/ml / RI: hypoglicemia.

  6. Persistence of avian oncoviruses in chicken macrophages.

    Science.gov (United States)

    Gazzolo, L; Moscovici, C; Moscovici, M G

    1979-01-01

    Inoculation of avian oncoviruses into 1- to 2-month old chickens led to a rapid production of antiviral humoral antibodies. Under these conditions it was found that avian leukosis viruses are sequestered in macrophages of peripheral blood, in which they can persist for a long period of time (up to about 3 years). In contrast, avian sarcoma viruses were never found in macrophages from chickens during the progression of sarcomas or after regression of the tumors. PMID:217827

  7. Endorectal magnetic resonance imaging in persistent hemospermia

    Directory of Open Access Journals (Sweden)

    Adilson Prando

    2008-03-01

    Full Text Available 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.

  8. 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)

  9. Electrodermal activity in patients with persistent insomnia.

    Science.gov (United States)

    Broman; Hetta

    1994-09-01

    In order to evaluate daytime arousal in patients with persistent insomnia, electrodermal activity (EDA) was measured in a habituation paradigm (21 tones, 80 dB, 1 s) in forty patients with persistent insomnia and in twenty normal subjects. Results showed that the patients had higher EDA than the controls implying a higher arousal level in the patients. Among the patients the distribution of trials to a habituation criterion was bimodal and patients were separated into habituators (n = 24) and non-habituators (n = 16). Non-habituators had significantly higher EDA than habituators and they also had a shorter nocturnal sleep time. Thus, daytime arousal was, significantly related to nocturnal sleep in the patients. Both patients with Psychophysiological Insomnia and Insomnia Associated with Psychiatric Disorders had higher EDA than the controls, and EDA was also significantly related to sleep in both groups. Results lend further support for the notion of an excessive daytime arousal, which may serve as a common predisposing factor in the initiation or maintenance of persistent insomnia.

  10. The Binary Perfect Phylogeny with Persistent characters

    CERN Document Server

    Braghin, Chiara; Trucco, Gabriella; Bonizzoni, Paola

    2011-01-01

    The near-perfect phylogeny over binary set of characters has been proposed as an extension of the too restrictive model of the perfect phylogeny in order to model biological events such as homoplasy. However the model appears to be too general to model some situations and is computationally inefficient on some instances. In this paper we consider the problem of reconstructing a near-perfect phylogeny where only a type of homoplasy is allowed in the tree: we consider back mutations according to notion of {\\em persistency}, that is characters can be gained and lost at most once. The notion of persistency leads to the problem of the Persistent Perfect Phylogeny (referred as P-PPH). By exploring combinatorial properties of the problem we develop an exact algorithm for solving the P-PPH problem that in the worst case runs in time that is exponential in the number of characters, but is polynomial in the number of species. Indeed, we show that the P-PPH problem can be restated as a special case of the Incomplete Per...

  11. Persistence of traditionalist value orientations in Serbia

    Directory of Open Access Journals (Sweden)

    Pešić Jelena

    2006-01-01

    Full Text Available Systematic failures in attempts to modernize Serbian society during the past two centuries have led to the survival of traditionalist value orientations. The long period of Ottoman rule allowed patriarchal, warrior-tribal cultural patterns to persist and shape the basis for national and overall cultural identity. Extreme poverty, autarkical agricultural production, the slow penetration of capitalism and a market economy, an undifferentiated social structure with majority of rural population, patriarchal organization of both the private and public sphere and the authoritarian character of authority, were characteristics of Serbian pre-modern society, which inhibited its development and contributed to the persistence of traditionalism. Although the socialist period was modernizing in many respects, homology between socialist and pre-modern collectivist, egalitarian and authoritarian orientation, made it easy for nationalism to penetrate and consequently led to decomposition of the state in civil wars. Delayed post-socialist transformation, characterized by civil war, economic collapse, extreme impoverishment, and international isolation, has only strengthened the orientation towards pre-modern patterns of identification. This paper examines the persistence of collectivism, authoritarianism and patriarchal orientation in the period of unhindered post-socialist transformation, based on the data obtained in the "South-East European Social Survey Project" (SEESSP, conducted from December 2003 to January 2004. These results are compared with those obtained in the research project "Changes in the Class Structure and Mobility in Serbia", conducted in 1989.

  12. Topological microstructure analysis using persistence landscapes

    Science.gov (United States)

    Dłotko, Paweł; Wanner, Thomas

    2016-11-01

    Phase separation mechanisms can produce a variety of complicated and intricate microstructures, which often can be difficult to characterize in a quantitative way. In recent years, a number of novel topological metrics for microstructures have been proposed, which measure essential connectivity information and are based on techniques from algebraic topology. Such metrics are inherently computable using computational homology, provided the microstructures are discretized using a thresholding process. However, while in many cases the thresholding is straightforward, noise and measurement errors can lead to misleading metric values. In such situations, persistence landscapes have been proposed as a natural topology metric. Common to all of these approaches is the enormous data reduction, which passes from complicated patterns to discrete information. It is therefore natural to wonder what type of information is actually retained by the topology. In the present paper, we demonstrate that averaged persistence landscapes can be used to recover central system information in the Cahn-Hilliard theory of phase separation. More precisely, we show that topological information of evolving microstructures alone suffices to accurately detect both concentration information and the actual decomposition stage of a data snapshot. Considering that persistent homology only measures discrete connectivity information, regardless of the size of the topological features, these results indicate that the system parameters in a phase separation process affect the topology considerably more than anticipated. We believe that the methods discussed in this paper could provide a valuable tool for relating experimental data to model simulations.

  13. Persistent carotid-vertebrobasilar anastomosis: radiologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Park, Sung Il; Kim, Dong Ik; Jun, Pyoung; Yoon, Pyeong Ho; Hwang, Geum Ju; Cheon, Young Jik; Lim, Joon Seok [Yonsei Univ. College of Medicine, Seoul (Korea, Republic of)

    1998-11-01

    To evaluate the radiologic findings of carotid-vertebrobasilar anastomosis and associated anomalies. Thirteen pateints with fourteen cases of carotid-vertebrobasilar anastomosis collected from January 1992 to December 1997 were reviewed. Clinical diagnosis refered for cerebral angiography were cerebral infarction (n=3D3), intracranial hemorrhage (n=3D2), subarachnoid hemorrhage (n=3D1), brain tumor (n=3D3), arteriovenous malformation (n=3D3) and trigeminal neuralgia (n=3D1). Cerebral angiograms and clinical symptoms were retrospectively analyzed. The fourteen carotid-vertebrobasilar anastomsis consisted of eleven cases of persistent trigeminal artery and three cases of type I proatantal intersegmental artery. Persistent trigeminal arteries were associated with anterior communicating artery aneurysm(n=3D1), posterior fossa arteriovenous malformation(n=3D2) and persistent trigeminal artery variant(n=3D5). Type I proatantal intersegmental arteries were associated with hypoplastic vertebral arteries(n=3D2): only proximal segment in one, and proximal and distal segments in one case. Only one patient had clinical symptom related to the carotid-vertebrobasilar anastomosis which was trigeminal neuralgia. Knowledge of the anatomical and radiologic findings of carotid-vertebrobasilar anastomosis and associated anomalies will aid in the accurate diagnosis of neurovascular disease and prevent possible complications during surgical and interventional procedures.=20.

  14. Persistence of antibiotic resistance in bacterial populations.

    Science.gov (United States)

    Andersson, Dan I; Hughes, Diarmaid

    2011-09-01

    Unfortunately for mankind, it is very likely that the antibiotic resistance problem we have generated during the last 60 years due to the extensive use and misuse of antibiotics is here to stay for the foreseeable future. This view is based on theoretical arguments, mathematical modeling, experiments and clinical interventions, suggesting that even if we could reduce antibiotic use, resistant clones would remain persistent and only slowly (if at all) be outcompeted by their susceptible relatives. In this review, we discuss the multitude of mechanisms and processes that are involved in causing the persistence of chromosomal and plasmid-borne resistance determinants and how we might use them to our advantage to increase the likelihood of reversing the problem. Of particular interest is the recent demonstration that a very low antibiotic concentration can be enriching for resistant bacteria and the implication that antibiotic release into the environment could contribute to the selection for resistance. Several mechanisms are contributing to the stability of antibiotic resistance in bacterial populations and even if antibiotic use is reduced it is likely that most resistance mechanisms will persist for considerable times.

  15. Improving Underrepresented Minority Student Persistence in STEM

    Science.gov (United States)

    Estrada, Mica; Burnett, Myra; Campbell, Andrew G.; Campbell, Patricia B.; Denetclaw, Wilfred F.; Gutiérrez, Carlos G.; Hurtado, Sylvia; John, Gilbert H.; Matsui, John; McGee, Richard; Okpodu, Camellia Moses; Robinson, T. Joan; Summers, Michael F.; Werner-Washburne, Maggie; Zavala, MariaElena

    2016-01-01

    Members of the Joint Working Group on Improving Underrepresented Minorities (URMs) Persistence in Science, Technology, Engineering, and Mathematics (STEM)—convened by the National Institute of General Medical Sciences and the Howard Hughes Medical Institute—review current data and propose deliberation about why the academic “pathways” leak more for URM than white or Asian STEM students. They suggest expanding to include a stronger focus on the institutional barriers that need to be removed and the types of interventions that “lift” students’ interests, commitment, and ability to persist in STEM fields. Using Kurt Lewin’s planned approach to change, the committee describes five recommendations to increase URM persistence in STEM at the undergraduate level. These recommendations capitalize on known successes, recognize the need for accountability, and are framed to facilitate greater progress in the future. The impact of these recommendations rests upon enacting the first recommendation: to track successes and failures at the institutional level and collect data that help explain the existing trends. PMID:27543633

  16. 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

  17. 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....

  18. Persistence and Extinction in Two Species Models with Impulse

    Institute of Scientific and Technical Information of China (English)

    Xian Zhang WEN; Zhi Cheng WANG

    2006-01-01

    Both uniform persistence and global extinction are established for a two species predatorprey and competition system with impulse by appealing to theories of abstract persistence, asymptotically autonomous semiflows, and the comparison theorem.

  19. Persistent Skin Reactions and Aluminium Hypersensitivity Induced by Childhood Vaccines

    DEFF Research Database (Denmark)

    Salik, Elaha; Løvik, Ida; Andersen, Klaus E;

    2016-01-01

    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...

  20. 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.

  1. Prediction of antibody persistency from antibody titres to natalizumab

    DEFF Research Database (Denmark)

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

    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....

  2. Clinical characteristics of patients with persistent postural-perceptual dizziness

    OpenAIRE

    Roseli Saraiva Moreira Bittar; Eliane Maria Dias von Söhsten Lins

    2015-01-01

    INTRODUCTION: Persistent postural-perceptual dizziness is the dizziness that lasts for over three months with no clinical explanation for its persistence. The patient's motor response pattern presents changes and most patients manifest significant anxiety. OBJECTIVE: To evaluate the clinical characteristics of patients with persistent postural and perceptual dizziness. METHODS: statistical analysis of clinical aspects of patients with persistent postural-perceptual dizziness. RESULTS: 81 pati...

  3. Neurophysiological characterization of persistent pain after laparoscopic inguinal hernia repair

    DEFF Research Database (Denmark)

    Linderoth, G; Kehlet, H; Aasvang, E K;

    2011-01-01

    About 2-5% of patients undergoing laparoscopic inguinal repair experience persistent pain influencing everyday activities. However, compared with persistent pain after open repair, the combined clinical and neurophysiological characteristics have not been described in detail. Thus, the aim...... of the study was to describe and classify patients with severe persistent pain after laparoscopic herniorrhaphy....

  4. Mitigation of H2RG persistence with image illumination

    Science.gov (United States)

    McLeod, Brian A.; Smith, Roger

    2016-08-01

    Residual charge generation, or image persistence, in infrared detectors is a problem that affects many low-light astronomical instruments. The HAWAII-2RG in the MMT and Magellan Infrared Spectrograph shows significant persistence when first powered up. We describe here how we reduce the persistence sensitivity of this detector by exposure to light.

  5. Common Persistence and Error-Correction Mode in Conditional Variance

    Institute of Scientific and Technical Information of China (English)

    LI Han-dong; ZHANG Shi-ying

    2001-01-01

    We firstly define the persistence and common persistence of vector GARCH process from the point of view of the integration, and then discuss the sufficient and necessary condition of the copersistence in variance. In the end of this paper, we give the properties and the error correction model of vector GARCH process under the condition of the co-persistence.

  6. Are seed dormancy and persistence in soil related?

    NARCIS (Netherlands)

    Thompson, K; Ceriani, RM; Bakker, JP; Bekker, RM

    2003-01-01

    There is confusion in the ecological literature between seed dormancy and persistence in soil. Some ecologists seem to assume that dormancy is necessary for persistence, while others imply that dormancy and persistence are virtually synonymous. Here, we show that there is no close relationship betwe

  7. Neurophysiological characterization of persistent pain after laparoscopic inguinal hernia repair

    DEFF Research Database (Denmark)

    Linderoth, G; Kehlet, H; Aasvang, E K

    2011-01-01

    About 2-5% of patients undergoing laparoscopic inguinal repair experience persistent pain influencing everyday activities. However, compared with persistent pain after open repair, the combined clinical and neurophysiological characteristics have not been described in detail. Thus, the aim...... of the study was to describe and classify patients with severe persistent pain after laparoscopic herniorrhaphy....

  8. Are seed dormancy and persistence in soil related?

    NARCIS (Netherlands)

    Thompson, K; Ceriani, RM; Bakker, JP; Bekker, RM

    There is confusion in the ecological literature between seed dormancy and persistence in soil. Some ecologists seem to assume that dormancy is necessary for persistence, while others imply that dormancy and persistence are virtually synonymous. Here, we show that there is no close relationship

  9. Echocardiographic diastolic function assessment is of modest utility in patients with persistent and longstanding persistent atrial fibrillation

    Directory of Open Access Journals (Sweden)

    Mária Kohári

    2015-12-01

    Conclusion: Accurate assessment of diastolic dysfunction in patients with persistent and longstanding persistent AF is difficult using TTE. A combination of LAVmin, PVS, and E might be helpful to determine elevated LAP.

  10. Divergence in sink contributions to population persistence.

    Science.gov (United States)

    Heinrichs, Julie A; Lawler, Joshua J; Schumaker, Nathan H; Wilsey, Chad B; Bender, Darren J

    2015-12-01

    Population sinks present unique conservation challenges. The loss of individuals in sinks can compromise persistence; but conversely, sinks can improve viability by improving connectivity and facilitating the recolonization of vacant sources. To assess the contribution of sinks to regional population persistence of declining populations, we simulated source-sink dynamics for 3 very different endangered species: Black-capped Vireos (Vireo atricapilla) at Fort Hood, Texas, Ord's kangaroo rats (Dipodomys ordii) in Alberta, and Northern Spotted Owls (Strix occidentalis caurina) in the northwestern United States. We used empirical data from these case studies to parameterize spatially explicit individual-based models. We then used the models to quantify population abundance and persistence with and without long-term sinks. The contributions of sink habitats varied widely. Sinks were detrimental, particularly when they functioned as strong sinks with few emigrants in declining populations (e.g., Alberta's Ord's kangaroo rat) and benign in robust populations (e.g., Black-capped Vireos) when Brown-headed Cowbird (Molothrus ater) parasitism was controlled. Sinks, including ecological traps, were also crucial in delaying declines when there were few sources (e.g., in Black-capped Vireo populations with no Cowbird control). Sink contributions were also nuanced. For example, sinks that supported large, variable populations were subject to greater extinction risk (e.g., Northern Spotted Owls). In each of our case studies, new context-dependent sinks emerged, underscoring the dynamic nature of sources and sinks and the need for frequent re-assessment. Our results imply that management actions based on assumptions that sink habitats are generally harmful or helpful risk undermining conservation efforts for declining populations.

  11. Unsuspected pseudophysiologic emphysema in chronic persistent asthma.

    Science.gov (United States)

    Gelb, A F; Zamel, N

    2000-11-01

    The current literature emphasizes the role of airway remodeling in chronic persistent asthma and its putative effect on causing fixed expiratory airflow limitation. We studied 18 adults with chronic persistent asthma; 12 men, six women, age 59 +/- 15 yr (mean +/- SD) with fixed expiratory airflow obstruction. We measured lung elastic recoil and examined the mechanism of expiratory airflow limitation. Diaphragmatic strength was also measured in six asthmatics, using both sniff and partially occluded airway technique. All 18 asthmatics had markedly abnormal maximal expiratory flow-volume curves at both high and low lung volumes. Hyperinflation was present at residual volume (RV), FRC, and TLC in all subjects. Diffusing capacity was normal or elevated and lung computed tomography (CT) was normal in all 18 asthmatic subjects. There was a significant loss of lung elastic recoil in three of four asthmatics age 30 to 49, all five age 51 to 60 yr, and seven of nine age 61 to 82 yr. Maximal expiratory airflow limitation in only four elderly asthmatics and only at low lung volumes was due completely to loss of lung elastic recoil. In the others, we estimate the reduction in lung elastic recoil was responsible for 35% reduction in maximal expiratory airflow at 80% of TLC, and 55% at 70% of TLC. Despite hyperinflation, transdiaphragmatic pressures and strength were normal. The mechanisms responsible for loss of lung elastic recoil remain elusive. The high incidence of loss of lung elastic recoil in chronic persistent asthma was unexpected, and its contribution to abnormal lung function needs to be emphasized.

  12. Volatility, persistence, and survival in financial markets.

    Science.gov (United States)

    Constantin, M; Sarma, S Das

    2005-11-01

    We study the temporal fluctuations in time-dependent stock prices (both individual and composite) as a stochastic phenomenon using general techniques and methods of nonequilibrium statistical mechanics. In particular, we analyze stock price fluctuations as a non-Markovian stochastic process using the first-passage statistical concepts of persistence and survival. We report the results of empirical measurements of the normalized qth-order correlation functions fq(t), survival probability S(t), and persistence probability P(t) for several stock market dynamical sets. We analyze both minute-to-minute and higher-frequency stock market recordings (i.e., with the sampling time deltat of the order of days). We find that the fluctuating stock price is multifractal and the choice of deltat has no effect on the qualitative multifractal behavior displayed by the 1/q dependence of the generalized Hurst exponent Hq associated with the power-law evolution of the correlation function fq(t) approximately tHq. The probability S(t) of the stock price remaining above the average up to time t is very sensitive to the total measurement time tm and the sampling time. The probability P(t) of the stock not returning to the initial value within an interval t has a universal power-law behavior P(t) approximately t(-theta), with a persistence exponent theta close to 0.5 that agrees with the prediction theta=1-H2. The empirical financial stocks also present an interesting feature found in turbulent fluids, the extended self-similarity.

  13. 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

  14. Monitoring Coastal Marshes for Persistent Saltwater Intrusion

    Science.gov (United States)

    Kalcic, Maria; Hall, Callie; Fletcher, Rose; Russell, Jeff

    2009-01-01

    Primary goal: Provide resource managers with remote sensing products that support ecosystem forecasting models requiring salinity and inundation data. Work supports the habitat-switching modules in the Coastal Louisiana Ecosystem Assessment and Restoration (CLEAR) model, which provides scientific evaluation for restoration management (Visser et al., 2008). Ongoing work to validate flooding with radar (NWRC/USGS) and enhance persistence estimates through "fusion" of MODIS and Landsat time series (ROSES A.28 Gulf of Mexico). Additional work will also investigate relationship between saltwater dielectric constant and radar returns (Radarsat) (ROSES A.28 Gulf of Mexico).

  15. Perceptual-binding and persistent surface segregation.

    Science.gov (United States)

    Moradi, Farshad; Shimojo, Shinsuke

    2004-11-01

    Visual input is segregated in the brain into subsystems that process different attributes such as motion and color. At the same time, visual information is perceptually segregated into objects and surfaces. Here we demonstrate that perceptual segregation of visual entities based on a transparency cue precedes and affects perceptual binding of attributes. Adding an irrelevant transparency cue paradoxically improved the pairing of color and motion for rapidly alternating surfaces. Subsequent experiments show: (1) Attributes are registered over the temporal window defined by the perceptual persistence of segregation, resulting in asynchrony in binding, and (2) attention is necessary for correct registration of attributes in the presence of ambiguity.

  16. Existence of a persistent background of turbulence

    Science.gov (United States)

    Vanzandt, T. E.

    1983-01-01

    A plausible scenario for the existence of a persistent back-ground of turbulence in the free atmosphere is described. The MST radar technique is the only existing technique that can be used to describe the morphology of occurrence of turbulence as a function of altitude, wind speed, shear, weather conditions, geographical location, etc. This technique was used also to assess the degree of universality of shape and amplitude of the buoyancy wave spectrum and the relation between the buoyancy wave spectrum and turbulence.

  17. Persistent, Global Identity for Scientists via ORCID

    CERN Document Server

    Evrard, August E; Holmquist, Jane; Damon, James; Dietrich, Dianne

    2015-01-01

    Scientists have an inherent interest in claiming their contributions to the scholarly record, but the fragmented state of identity management across the landscape of astronomy, physics, and other fields makes highlighting the contributions of any single individual a formidable and often frustratingly complex task. The problem is exacerbated by the expanding variety of academic research products and the growing footprints of large collaborations and interdisciplinary teams. In this essay, we outline the benefits of a unique scholarly identifier with persistent value on a global scale and we review astronomy and physics engagement with the Open Researcher and Contributor iD (ORCID) service as a solution.

  18. Persistence and NIP in the characteristic sequence

    CERN Document Server

    Malliaris, M E

    2009-01-01

    For a first-order formula $\\phi(x;y)$ we introduce and study the characteristic sequence $$ of hypergraphs defined by $P_n(y_1,...,y_n) := (\\exists x) \\bigwedge_{i \\leq n} \\phi(x;y_i)$. We show that combinatorial and classification theoretic properties of the characteristic sequence reflect classification theoretic properties of $\\varphi$ and vice versa. Specifically, we show that some tree properties are detected by the presence of certain combinatorial configurations in the characteristic sequence while other properties such as instability and the independence property manifest themselves in the persistence of complicated configurations under localization.

  19. Persistent paper: the myth of "going paperless".

    Science.gov (United States)

    Dykstra, Richard H; Ash, Joan S; Campbell, Emily; Sittig, Dean F; Guappone, Ken; Carpenter, James; Richardson, Joshua; Wright, Adam; McMullen, Carmit

    2009-11-14

    How does paper usage change following the introduction of Computerized Physician Order Entry and the Electronic Medical Record (EMR/CPOE)? To answer that question we analyzed data collected from fourteen sites across the U.S. We found paper in widespread use in all institutions we studied. Analysis revealed psychological, ergonomic, technological, and regulatory reasons for the persistence of paper in an electronic environment. Paper has unique attributes allowing it to fill gaps in information timeliness, availability, and reliability in pursuit of improved patient care. Creative uses have led to "better paper."

  20. Chemically engineered persistent luminescence nanoprobes for bioimaging

    Science.gov (United States)

    Lécuyer, Thomas; Teston, Eliott; Ramirez-Garcia, Gonzalo; Maldiney, Thomas; Viana, Bruno; Seguin, Johanne; Mignet, Nathalie; Scherman, Daniel; Richard, Cyrille

    2016-01-01

    Imaging nanoprobes are a group of nanosized agents developed for providing improved contrast for bioimaging. Among various imaging probes, optical sensors capable of following biological events or progresses at the cellular and molecular levels are actually actively developed for early detection, accurate diagnosis, and monitoring of the treatment of diseases. The optical activities of nanoprobes can be tuned on demand by chemists by engineering their composition, size and surface nature. This review will focus on researches devoted to the conception of nanoprobes with particular optical properties, called persistent luminescence, and their use as new powerful bioimaging agents in preclinical assays. PMID:27877248

  1. 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

  2. Colloquium: Persistent spin textures in semiconductor nanostructures

    Science.gov (United States)

    Schliemann, John

    2017-01-01

    Device concepts in semiconductor spintronics make long spin lifetimes desirable, and the requirements put on spin control by proposals for quantum information processing are even more demanding. Unfortunately, due to spin-orbit coupling electron spins in semiconductors are generically subject to rather fast decoherence. In two-dimensional quantum wells made of zinc-blende semiconductors, however, the spin-orbit interaction can be engineered to produce persistent spin structures with extraordinarily long spin lifetimes even in the presence of disorder and imperfections. Experimental and theoretical developments on this subject for both n -doped and p -doped structures are reviewed and possible device applications are discussed.

  3. Persistence of contact allergy among Danish adults

    DEFF Research Database (Denmark)

    Nielsen, N H; Linneberg, A; Menné, T

    2001-01-01

    In 1990, a random sample of 567 persons of the 15-69-year-old population living in the Western part of Copenhagen County, Denmark, was patch tested in a cross-sectional study. In 1998, a follow-up study was performed. Out of 540 invited, 365 (68%) were re-patch tested. In the follow-up study...... at least 1 positive patch test. Nickel allergy persisted in 79%. Allergen avoidance should probably be lifelong to prevent elicitation of contact dermatitis....

  4. [Bilateral persistent hyaloid artery. A case report].

    Science.gov (United States)

    Borbolla-Pertierra, A M; Martínez-Hernández, C K; Juárez-Echenique, J C

    2014-06-01

    A 5-year-old male presented with bilateral poor vision, esotropia and a previous diagnosis of cataract since he was 1 year old. The physical examination revealed bilateral posterior paracentric capsule opacification, vitreous cavity with a permeable pulsatile blood filled hyaloid artery in both eyes. He was kept under observation. Persistent hyaloid artery is an uncommon faulty primary vitreous regression, often unilateral (although it may be bilateral) and sporadic, associated with microphthalmos. It may be complicated with glaucoma and phthisis bulbi. Vitrectomy plus lensectomy or simple observation are the accepted treatment options. Copyright © 2012 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  5. Vector FIGARCH process, its persistence and co-persistence in variance

    Institute of Scientific and Technical Information of China (English)

    LI Song-chen; ZHANG Shi-ying

    2006-01-01

    In this paper,the definition of the vector FIGARCH process is established,and the stationarity and some properties of the process are discussed.According to the stationarity and the results of Du and Zhang [1],we verify the persistence in variance of the vector FIGARCH process,and finally establish the sufficient and necessary condition for the co-persistence in the variance of the process and also discuss the constant related vector FIGARCH(p,d,q) process as a special case.

  6. Parsing apart the persisters: Etiological mechanisms and criminal offense patterns of moderate- and high-level persistent offenders.

    Science.gov (United States)

    Amemiya, Jamie; Vanderhei, Susan; Monahan, Kathryn C

    2016-07-15

    Longitudinal investigations that have applied Moffitt's dual taxonomic framework to criminal offending have provided support for the existence of adolescent-limited and life-course persistent antisocial individuals, but have also identified additional trajectories. For instance, rather than a single persistent trajectory, studies have found both high-level and moderate-level persistent offenders. To inform theory and progress our understanding of chronic antisocial behavior, the present study used a sample of serious adolescent offenders (N =1,088) followed from middle adolescence to early adulthood (14-25 years), and examined how moderate-level persistent offenders differed from low-rate, desisting, and high-level persistent offenders. Results indicated that moderate-level persisters' etiology and criminal offense patterns were most similar to high-level persisters, but there were notable differences. Specifically, increasing levels of contextual adversity characterized both moderate-level and high-level persisting trajectories, but moderate-level persisters reported consistently lower levels of environmental risk. While both high- and moderate-level persisters committed more drug-related offenses in early adulthood compared to adolescence, moderate-level persisters engaged in lower levels of antisocial behavior across all types of criminal offenses. Taken cumulatively, the findings of this study suggest that sociocontextual interventions may be powerful in reducing both moderate- and high-level persistence in crime.

  7. Statistical Survey of Persistent Organic Pollutants: Risk ...

    Science.gov (United States)

    U.S. EPA conducted a national statistical survey of fish tissue contamination at 540 river sites (representing 82 954 river km) in 2008–2009, and analyzed samples for 50 persistent organic pollutants (POPs), including 21 PCB congeners, 8 PBDE congeners, and 21 organochlorine pesticides. The survey results were used to provide national estimates of contamination for these POPs. PCBs were the most abundant, being measured in 93.5% of samples. Summed concentrations of the 21 PCB congeners had a national weighted mean of 32.7 μg/kg and a maximum concentration of 857 μg/kg, and exceeded the human health cancer screening value of 12 μg/kg in 48% of the national sampled population of river km, and in 70% of the urban sampled population. PBDEs (92.0%), chlordane (88.5%) and DDT (98.7%) were also detected frequently, although at lower concentrations. Results were examined by subpopulations of rivers, including urban or nonurban and three defined ecoregions. PCBs, PBDEs, and DDT occur at significantly higher concentrations in fish from urban rivers versus nonurban; however, the distribution varied more among the ecoregions. Wildlife screening values previously published for bird and mammalian species were converted from whole fish to fillet screening values, and used to estimate risk for wildlife through fish consumption. This work presents the results of the 2008-2009 National Rivers and Streams Assessment Survey (NRSA) where 50 persistent organic pollutants (POPs

  8. 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

  9. [Physiopathological mechanisms in tinnitus generation and persistence].

    Science.gov (United States)

    Herraiz, C

    2005-10-01

    Progress in neuroscience research has given birth to new theories for tinnitus generation. From a point of view where cochlear dysfunctions would be considered as the origin and maintenance mechanisms, it has been introduced the important role of compensation systems from the central auditory pathways. They could act as the most relevant factor for chronic persistent tinnitus after a peripheral aggression. Unmasking of silent synapses or sprouting of new ones activate cortical reorganization for frecuencial areas nearby the non-stimulated ones through brain plasticity. Connections to associative cortex and limbic-amigdala area using the non-classical auditory system explain the presence of hyperacusis, anxiety or depression, factors that increase the severity of tinnitus. Implementation of these physiopathological theories reinforces the tinnitus neurophysiological model. The development of an aversive response through the survival reflex and the participation of negative emotional response are the responsible for signal persistence and vegetative reactions from the autonomous nervous system. Implications of this knowledge for tinnitus treatment involve the central auditory system approach through the combination of medical counselling for reduction of the aversive reaction and sound therapy to diminish its perception.

  10. Biased evaluation and persistence in gambling.

    Science.gov (United States)

    Gilovich, T

    1983-06-01

    Perhaps the most striking aspect of gambling behavior is that people continue to gamble despite persistent failure. One reason for this persistence may be that gamblers evaluate outcomes in a biased manner. Specifically, gamblers may tend to accept wins at face value but explain away or discount losses. Experiment 1 tested this hypothesis by recording subjects' explanations of the outcomes of their bets on professional football games. The results supported the hypothesis: Subjects spent more time explaining their losses than their wins. A content analysis of these explanations revealed that subjects tended to discount their losses but "bolster" their wins Finally, subjects remembered their losses better during a recall test 3 weeks later. Experiments 2 and 3 extended this analysis by demonstrating that a manipulation of the salience or existence of a critical "fluke" play in a sporting event had a greater impact on the subsequent expectations of those who had bet on the losing team than of those who had bet on the winning team. Both the implications and the possible mechanisms underlying these biases are discussed.

  11. 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.

  12. 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

    2016-10-10

    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.

  13. Efficacy of cromoglycate in persistently wheezing infants.

    Science.gov (United States)

    Furfaro, S; Spier, S; Drblik, S P; Turgeon, J P; Robert, M

    1994-01-01

    A prospective study was undertaken to evaluate the efficacy of (sodium) cromoglycate in the treatment of persistent wheezing in 31 children between 4 and 12 months of age. The subjects were randomised to receive either 40 mg of cromoglycate (n = 16) or physiological saline as placebo (n = 15) three times a day by wet nebulisation in a double blind fashion for a period of six weeks. The patients were evaluated with daily symptom scores and respiratory function testing measuring maximal expiratory flow at functional residual capacity (VmaxFRC) before initiating treatment and upon completion. At baseline, mean (SD) symptom scores between the two groups were comparable (cromoglycate 99.5 (29.8), placebo 104.5 (29.7)) as were VmaxFRC expressed as per cent of predicted normals (cromoglycate 48 (28), placebo 46 (20)). Upon completion of the treatment protocol, no significant difference could be found between the two groups for either symptom score (cromoglycate 67.6 (40.2), placebo 58.6 (41.4)), or VmaxFRC (cromoglycate 52 (24), placebo 60 (32)). It is concluded, therefore, that 40 mg of cromoglycate three times a day administered via facemask and wet nebulisation was no more effective than placebo in the treatment of our sample of persistently wheezing infants under 1 year of age. PMID:7979527

  14. Trigeminal neuralgia and persistent idiopathic facial pain.

    Science.gov (United States)

    Obermann, Mark; Holle, Dagny; Katsarava, Zaza

    2011-11-01

    Trigeminal neuralgia (TN) and persistent idiopathic facial pain (PIFP) are two of the most puzzling orofacial pain conditions and affected patients are often very difficult to treat. TN is characterized by paroxysms of brief but severe pain followed by asymptomatic periods without pain. In some patients a constant dull background pain may persist. This constant dull pain sometimes makes the distinction from PIFP difficult. PIFP is defined as continuous facial pain, typically localized in a circumscribed area of the face, which is not accompanied by any neurological or other lesion identified by clinical examination or clinical investigations. The pain usually does not stay within the usual anatomic boundaries of the trigeminal nerve distribution and is a diagnosis of exclusion. Epidemiologic evidence on TN, and even more so on PIFP, is quite scarce, but generally both conditions are considered to be rare diseases. The etiology and underlying pathophysiology of TN, and more so PIFP, remain unknown. Treatment is based on only few randomized controlled clinical trials and insufficiently evaluated surgical procedures.

  15. An Approach to Persistent Scatterer Interferometry

    Directory of Open Access Journals (Sweden)

    Núria Devanthéry

    2014-07-01

    Full Text Available This paper describes a new approach to Persistent Scatterer Interferometry (PSI data processing and analysis, which is implemented in the PSI chain of the Geomatics (PSIG Division of CTTC. This approach includes three main processing blocks. In the first one, a set of correctly unwrapped and temporally ordered phases are derived, which are computed on Persistent Scatterers (PSs that cover homogeneously the area of interest. The key element of this block is given by the so-called Cousin PSs (CPSs, which are PSs characterized by a moderate spatial phase variation that ensures a correct phase unwrapping. This block makes use of flexible tools to check the consistency of phase unwrapping and guarantee a uniform CPS coverage. In the second block, the above phases are used to estimate the atmospheric phase screen. The third block is used to derive the PS deformation velocity and time series. Its key tool is a new 2+1D phase unwrapping algorithm. The procedure offers different tools to globally control the quality of the processing steps. The PSIG procedure has been successfully tested over urban, rural and vegetated areas using X-band PSI data. Its performance is illustrated using 28 TerraSAR-X StripMap images over the metropolitan area of Barcelona.

  16. 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.

  17. Measuring persistence: A literature review focusing on methodological issues

    Energy Technology Data Exchange (ETDEWEB)

    Wolfe, A.K.; Brown, M.A.; Trumble, D.

    1995-03-01

    This literature review was conducted as part of a larger project to produce a handbook on the measurement of persistence. The past decade has marked the development of the concept of persistence and a growing recognition that the long-term impacts of demand-side management (DSM) programs warrant careful assessment. Although Increasing attention has been paid to the topic of persistence, no clear consensus has emerged either about its definition or about the methods most appropriate for its measurement and analysis. This project strives to fill that gap by reviewing the goals, terminology, and methods of past persistence studies. It was conducted from the perspective of a utility that seeks to acquire demand-side resources and is interested in their long-term durability; it was not conducted from the perspective of the individual consumer. Over 30 persistence studies, articles, and protocols were examined for this report. The review begins by discussing the underpinnings of persistence studies: namely, the definitions of persistence and the purposes of persistence studies. Then. it describes issues relevant to both the collection and analysis of data on the persistence of energy and demand savings. Findings from persistence studies also are summarized. Throughout the review, four studies are used repeatedly to illustrate different methodological and analytical approaches to persistence so that readers can track the data collection. data analysis, and findings of a set of comprehensive studies that represent alternative approaches.

  18. Role of adult hippocampal neurogenesis in persistent pain.

    Science.gov (United States)

    Apkarian, A Vania; Mutso, Amelia A; Centeno, Maria V; Kan, Lixin; Wu, Melody; Levinstein, Marjorie; Banisadr, Ghazal; Gobeske, Kevin T; Miller, Richard J; Radulovic, Jelena; Hen, René; Kessler, John A

    2016-02-01

    The full role of adult hippocampal neurogenesis (AHN) remains to be determined, yet it is implicated in learning and emotional functions, and is disrupted in negative mood disorders. Recent evidence indicates that AHN is decreased in persistent pain consistent with the idea that chronic pain is a major stressor, associated with negative moods and abnormal memories. Yet, the role of AHN in development of persistent pain has remained unexplored. In this study, we test the influence of AHN in postinjury inflammatory and neuropathic persistent pain-like behaviors by manipulating neurogenesis: pharmacologically through intracerebroventricular infusion of the antimitotic AraC; ablation of AHN by x-irradiation; and using transgenic mice with increased or decreased AHN. Downregulating neurogenesis reversibly diminished or blocked persistent pain; oppositely, upregulating neurogenesis led to prolonged persistent pain. Moreover, we could dissociate negative mood from persistent pain. These results suggest that AHN-mediated hippocampal learning mechanisms are involved in the emergence of persistent pain.

  19. Predictors of caregiver feeding practices differentiating persistently obese from persistently non-overweight adolescents ✩

    Science.gov (United States)

    Towner, Elizabeth K.; Reiter-Purtill, Jennifer; Boles, Richard E.; Zeller, Meg H.

    2015-01-01

    Understanding the contribution of caregiver feeding practices to adolescent diet and weight is important to refining caregiver roles within the context of adolescent obesity prevention and treatment. This secondary data analysis examined whether feeding practices of female caregivers differentiated persistently non-overweight (n = 29) from persistently obese (n = 47) adolescents. Families who previously participated in a cross-sectional study on correlates of obesity were recruited for this follow-up study. At the time of the follow-up study, anthropometric measures were taken for all female caregivers and adolescents, and caregivers completed the Child Feeding Questionnaire-Adolescent version. Socioeconomic, demographic, female caregiver anthropometric, and psychological (caregiver perceived self-weight and concern for adolescent overweight) variables were examined as predictors of feeding practices found to differentiate the two groups. Female caregivers of persistently obese adolescents reported significantly greater use of restriction and monitoring compared to female caregivers of persistently non-overweight adolescents. Restriction was predicted by female caregiver age and concern for adolescent overweight whereas monitoring was predicted by concern for adolescent overweight only. Caregiver feeding strategies may be an important target for adolescent obesity prevention and intervention efforts particularly among those with heightened concern about their teen’s weight status. PMID:25246031

  20. 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