The epidemiology of anophthalmia and microphthalmia in Sweden.

Science.gov (United States)

Källén, Bengt; Tornqvist, Kristina

2005-01-01

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

Associated malformations among infants with anophthalmia and microphthalmia.

Science.gov (United States)

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

2012-03-01

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

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.

Unilateral microphthalmia or anophthalmia in eight pythons (Pythonidae)

DEFF Research Database (Denmark)

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

2015-01-01

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

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)

Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

Science.gov (United States)

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

1983-06-01

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

Epidemiology of goblet cell and microvesicular hyperplastic polyps.

Science.gov (United States)

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

2014-12-01

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

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.

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

Science.gov (United States)

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

1998-01-01

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

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

Science.gov (United States)

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

2011-06-01

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

A practical guide to the management of anophthalmia and microphthalmia.

Science.gov (United States)

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

2007-10-01

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

Markers of potential malignancy in chronic hyperplastic candidiasis.

Science.gov (United States)

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

2012-08-01

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

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

Science.gov (United States)

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

2016-12-01

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

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...

Radiation therapy of hyperplastic heterotopic ossifications in osteogenesis imperfecta

International Nuclear Information System (INIS)

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

1994-01-01

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

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

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

Science.gov (United States)

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

2018-06-01

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

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

Science.gov (United States)

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

2015-12-01

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

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

Science.gov (United States)

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

2009-01-01

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

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.

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.

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

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)

Proton MR spectroscopy of hyperplastic hematopoietic marrow in aplastic anemia

International Nuclear Information System (INIS)

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

1997-01-01

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

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

Science.gov (United States)

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

2013-11-01

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

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

Science.gov (United States)

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

2012-09-01

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

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

DEFF Research Database (Denmark)

Chao, Ryan; Nevin, Linda; Agarwal, Pooja

2010-01-01

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

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

Science.gov (United States)

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

2017-06-01

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

Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings

International Nuclear Information System (INIS)

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

1998-01-01

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

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.

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

Science.gov (United States)

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

1998-01-01

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

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

Science.gov (United States)

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

2005-08-15

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

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.

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

Directory of Open Access Journals (Sweden)

Melek Kezban Gürbüz

2013-06-01

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

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.

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

NARCIS (Netherlands)

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

2010-01-01

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

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

NARCIS (Netherlands)

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

2010-01-01

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

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

NARCIS (Netherlands)

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

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

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

DEFF Research Database (Denmark)

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

2016-01-01

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

Diffuse benign gastric inflammatory hyperplastic polyps presenting ...

African Journals Online (AJOL)

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

Nasopharyngeal irradiation treatment of hyperplastic adenoids

International Nuclear Information System (INIS)

Pratt, L.W.

1981-01-01

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

Hyperplastic callus formation in osteogenesis imperfecta. A case report

International Nuclear Information System (INIS)

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

1994-01-01

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

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.).

The genetic architecture of microphthalmia, anophthalmia and coloboma.

Science.gov (United States)

Williamson, Kathleen A; FitzPatrick, David R

2014-08-01

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

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

Science.gov (United States)

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

2013-08-28

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

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

OpenAIRE

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

2013-01-01

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

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

Science.gov (United States)

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

1998-10-01

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

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

Science.gov (United States)

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

2009-12-01

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

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

OpenAIRE

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

1996-01-01

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

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

Science.gov (United States)

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

2011-07-01

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

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

Science.gov (United States)

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

2016-05-01

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

Unilateral microphthalmia or anophthalmia in eight pythons (Pythonidae).

Science.gov (United States)

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

2015-01-01

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

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

Science.gov (United States)

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

1983-07-01

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

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

Directory of Open Access Journals (Sweden)

Gabriel M. Groisman

2014-01-01

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

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.)

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

International Nuclear Information System (INIS)

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

2006-01-01

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

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

NARCIS (Netherlands)

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

2011-01-01

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

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Science.gov (United States)

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

2013-02-07

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

Site of iodination in hyperplastic thyroid glands deduced from autoradiographs

International Nuclear Information System (INIS)

Wollman, S.H.; Ekholm, R.

1981-01-01

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

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

NARCIS (Netherlands)

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

2014-01-01

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

Prosthetic management of congenital anophthalmia-microphthalmia patient

Directory of Open Access Journals (Sweden)

Himanshi Aggarwal

2015-01-01

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

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

Science.gov (United States)

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

2013-12-01

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

MRI and CT features of hyperplastic callus in osteogenesis imperfecta tarda

International Nuclear Information System (INIS)

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

1999-01-01

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

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

Science.gov (United States)

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

2009-01-01

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

Multiple calcifying hyperplastic dental follicles: A case report

International Nuclear Information System (INIS)

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

2013-01-01

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

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.

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.

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

Science.gov (United States)

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

2015-12-01

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

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

Science.gov (United States)

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

2016-04-01

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

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

NARCIS (Netherlands)

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

2009-01-01

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

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.

Unusual Presentation of Chronic Hyperplastic Pulpitis: A Case Report

Science.gov (United States)

Faryabi, Javad; Adhami, Shahrzad

2008-01-01

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

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.)

Anophthalmia-plus syndrome: a clinical report and review of the literature.

Science.gov (United States)

Makhoul, Imad R; Soudack, Michalle; Kochavi, Orna; Guilburd, Joseph N; Maimon, Shimon; Gershoni-Baruch, Ruth

2007-01-01

We describe a term male infant of healthy non-consanguineous parents, born with congenital malformations, including bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye. Spine radiograph and MRI showed first sacral hemivertebra with spina bifida, and agenesis of the 2nd, 3rd, 4th, and 5th sacral vertebrae and coccyx. Spine MRI showed caudal tethering of spinal cord at L(3) level, filum terminalis lipoma and a syringomyelia. Brain ultrasound and MRI showed hypoplasia of corpus callosum with mild dilatation of the lateral ventricles. Orbital MRI showed bilateral microphthalmia-distorted small left eyeball with posteriorly located lens, and a split vitreous body in the right eye, suggestive of primary hyperplastic vitreous. The karyotype was normal. Summary of the findings in nine cases (our case and eight published cases) support the notion that anophthalmia-plus syndrome (APS) is a distinct syndrome. Gene locus of APS is yet to be identified. (c) 2006 Wiley-Liss, Inc.

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

Science.gov (United States)

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

2012-03-12

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

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.

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

International Nuclear Information System (INIS)

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

2015-01-01

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

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

Science.gov (United States)

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

2015-11-02

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

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.

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

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.

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....

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

International Nuclear Information System (INIS)

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

2006-01-01

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

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

Energy Technology Data Exchange (ETDEWEB)

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

2006-02-15

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

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

NARCIS (Netherlands)

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

2000-01-01

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

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

Science.gov (United States)

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

1996-10-01

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

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.

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

Science.gov (United States)

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

2014-01-01

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

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

Science.gov (United States)

Terayama, Yui; Matsuura, Tetsuro; Ozaki, Kiyokazu

2017-08-01

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

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

Science.gov (United States)

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

2017-11-01

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

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

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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.

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.

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

Science.gov (United States)

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

2018-04-17

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

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

Science.gov (United States)

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

2008-09-15

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

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

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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

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

Science.gov (United States)

Reis, Linda M; Semina, Elena V

2015-06-01

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

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

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Louvrou Niki

2008-04-01

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

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

Science.gov (United States)

Shastry, B S; Reddy, V N

1994-09-30

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

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

Science.gov (United States)

Markuszewski, C

1978-09-18

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

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

Science.gov (United States)

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

1991-08-01

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

Reoperation for persistent or recurrent secondary hyperparathyroidism.

Science.gov (United States)

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

2017-10-23

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

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

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I.M. Muraviova

2016-02-01

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

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

OpenAIRE

Ulukapı, Işın; Stich, Herrmann

2012-01-01

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

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

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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

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

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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.

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

DEFF Research Database (Denmark)

Rinaldi, Tania; Perrodin, Catherine; Markram, Henry

2008-01-01

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

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

DEFF Research Database (Denmark)

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

2017-01-01

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

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

Science.gov (United States)

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

2014-01-01

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

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

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

2017-03-01

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

Hyperplastic Polyps Are Innocuous Lesions in Hereditary Nonpolyposis Colorectal Cancers

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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.

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

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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.

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

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

2014-11-01

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

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

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Gencoglu, Esra Arzu; Aktas, Ayse

2014-01-01

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

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

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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.

Zinc in human prostate gland. Normal, hyperplastic and cancerous

International Nuclear Information System (INIS)

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

1997-01-01

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

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

International Nuclear Information System (INIS)

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

1989-01-01

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

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

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

2008-01-01

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

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

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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.

MONITORING OF CASES WITH A CHRONIC PERSISTENT INFECTION WITH HELICOBACTER PYLORI

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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

T1 value of hyperplastic and hypoplastic bone marrow

International Nuclear Information System (INIS)

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

1985-01-01

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

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

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

2007-01-01

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

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

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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

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

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

2014-08-01

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

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

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Wang Xiaoqin

2007-12-01

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

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

International Nuclear Information System (INIS)

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

1982-01-01

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

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

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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.

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

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Asgary, Saeed; Verma, Prashant; Nosrat, Ali

2017-01-01

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

Hyperplastic corneal pannus: an immunohistochemical analysis and review.

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

2014-01-01

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

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

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

2016-04-01

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

T1 value of hyperplastic and hypoplastic bone marrow. Preliminary report

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

1985-03-01

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

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.

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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.

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.

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

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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.)

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

International Nuclear Information System (INIS)

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

2008-01-01

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

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

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

2016-01-01

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

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

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

2015-11-01

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

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

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

2013-10-10

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

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

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

2017-01-01

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

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

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

2013-03-01

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

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

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

2015-02-01

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

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

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

2016-10-01

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

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

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

2013-07-01

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

Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance : Confirmation of a syndrome

NARCIS (Netherlands)

Aalfs, CM; Oosterwijk, JC; VanSchooneveld, MJ; Begeman, CJ; Wabeke, KB; Hennekam, RCM

Two unrelated, adult females with normal intelligence are described. They show a similar clinical picture with a long and narrow face, congenital cataract, microphthalmia, microcornea, a high nasal bridge, a short nose, a broad nasal tip, a long philtrum, bilateral hearing loss, persistent primary

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

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

2009-12-01

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

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

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O. I. Parnytska

2013-12-01

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

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

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Rafaela Elvira Rozza-de-Menezes

2013-01-01

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

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

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

2017-09-01

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

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

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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.

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

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

2008-01-01

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

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

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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.

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

DEFF Research Database (Denmark)

Liljegren, Annelie; Barker, Gail; Elliott, Faye

2008-01-01

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

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

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

2014-10-01

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

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

International Nuclear Information System (INIS)

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

1989-01-01

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

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

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

2017-01-01

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

EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis

International Nuclear Information System (INIS)

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

2006-01-01

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

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

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

2018-01-01

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

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

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Xiaojing Geng

2016-01-01

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

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

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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.

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

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

2013-01-01

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

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.

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

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

Energy Technology Data Exchange (ETDEWEB)

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

2009-05-11

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

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.

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

Science.gov (United States)

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

2002-01-01

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

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

International Nuclear Information System (INIS)

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

2014-01-01

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

Clonal evolution and progression of 20-methylcholanthrene-induced squamous cell carcinoma of mouse epidermis as revealed by DNA instability and other malignancy markers

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K Hirai

2009-12-01

Full Text Available We examined the clonal evolution of skin malignant lesions by repeated topical applications of 20- methylcholanthrene (20-MC to the skin, which induces hyperplastic epidermis, papillomatous lesion and invasive carcinoma in mice. The lesions were examined histologically and immunohistochemically with anti-single-stranded DNA after acid hydrolysis (DNA-instability test, p53, VEGF, DFF45, PCNA and AgNORs parameters analyses. Multiple clones with increased DNA instability comparable to that of invasive carcinoma were noted in early-stage (2-6 weeks hyperplastic epidermis, and their number increased in middle (7-11 weeks, and late-stages (12-25 weeks of hyperplastic epidermis, indicating that they belong to the malignancy category. All papillomatous lesions and invasive carcinomas showed a positive DNA-instability test. Positive immunostaining for various biomarkers and AgNORs parameters appeared in clones with a positive DNA-instability test in earlyor middle-stage hyperplastic epidermis, and markedly increased in late-stage hyperplastic epidermis, papillomatous lesions and invasive carcinomas. The percentage of PCNA-positive vascular endothelial cells was significantly higher in VEGFpositive lesions with a positive DNA-instability test and became higher toward the late-stage of progression. Cut-woundings were made to papillomatous and invasive carcinoma lesions, and the regeneration activity of vascular endothelial cells was determined by using flash labeling with tritiated thymidine (3H-TdR. In small papillomatous lesions, vascular endothelial cells showed regenerative response, but the response was weak in large lesions. No such response was noted in invasive carcinomas; rather, cut-wounding induced collapse of blood vessels, which in turn induced massive coagulative necrosis of cancer cells. These responses can be interpreted to reflect exhausted vascular growth activity due to excessive stimulation by VEGF-overexpression, which was persistently

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

Science.gov (United States)

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

2016-09-01

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

Developmental abnormalities of the vitreous in mouse fetuses caused by simultaneous irradiation of x-rays and ultrasound

Energy Technology Data Exchange (ETDEWEB)

Shirai, S; Yuguchi, S; Majima, A [Nagoya City Univ. (Japan). Faculty of Medicine

1980-10-01

Eye abnormalities in mouse fetuses caused by irradiation of X-rays alone, or simultaneous irradiation of X-rays and ultrasound on day 7 of gestation were histologically studied on day 18 of gestation. Developmental abnormalities of the vitreous were examined in the present experiment, and the following results were obtained. 1. Developmental abnormalities of the vitreous were observed in 23 fetuses, and unilateral cases were 15 of 23 fetuses. In 31 eyes with these abnormalities, much more abundant mesenchymal tissue of components of primary vitreous was found in the retrolental vitreous cavity than in the normal eyes. 2. The above 31 eyes were also accompanied by a variety of ocular abnormalities such as microphthalmia, faulty closure of the fetal fissure, aplasia and hypoplasia of the optic nerve, goniodysgenesis, and corneolenticular adhesion. Complications observed to be associated with developmental abnormalities of the vitreous were lens abnormalities, retinal traction and fold, fibrovascular anastomosis between mesenchymal tissues of the chamber angle and vitreous cavity, retinal rosette, and anomalies of the optic nerve head. 3. The histological findings of 17 eyes corresponded to anterior persistent hyperplastic primary vitreous (PHPV) encountered clinically, those of 3 eyes to posterior PHPV, those of 6 eyes to mixed type of both anterior and posterior types, and those of 5 eyes to PHPV of the optic nerve head. In 3 bilateral cases, the type was different for either eye. 4. From these results, it was considered that the pathogenesis of PHPV of Reese and congenital retinal fold of Mann consists of the maldevelopment of the components of the primary vitreous, and that the type of defect depends on the portion involved and the degree depends on the time at which the maldevelopment occurs.

Developmental abnormalities of the vitreous in mouse fetuses caused by simultaneous irradiation of x-rays and ultrasound

International Nuclear Information System (INIS)

Shirai, Shoichiro; Yuguchi, Shuji; Majima, Akio

1980-01-01

Eye abnormalities in mouse fetuses caused by irradiation of X-rays alone, or simultaneous irradiation of X-rays and ultrasound on day 7 of gestation were histologically studied on day 18 of gestation. Developmental abnormalities of the vitreous were examined in the present experiment, and the following results were obtained. 1. Developmental abnormalities of the vitreous were observed in 23 fetused, and unilateral cases were 15 of 23 fetuses. In 31 eyes with these abnormalities, much more abundant mesenchymal tissue of components of primary vitreous was found in the retrolental vitreous cavity than in the normal eyes. 2. The above 31 eyes were also accompanied by a variety of ocular abnormalities such as microphthalmia, faulty closure of the fetal fissure, aplasia and hypoplasia of the optic nerve, goniodysgenesis, and corneolenticular adhesion. Complications observed to be associated with developmental abnormalities of the vitreous were lens abnormalities, retinal traction and fold, fibrovascular anastomosis between mesenchymal tissues of the chamber angle and vitrious cavity, retinal rosette, and anomalies of the optic nerve head. 3. The histological findings of 17 eyes corresponded to anterior persistent hyperplastic primary vitreous (PHPV) encountered clinically, those of 3 eyes to posterior PHPV, those of 6 eyes to mixed type of both anterior and posterior types, and those of 5 eyes to PHPV of the optic nerve head. In 3 bilateral cases, the type was different for either eye. 4. From these results, it was considered that the pathogenesis of PHPV of Reese and congenital retinal fold of Mann consists of the maldevelopment of the components of the primary vitreous, and that the type of defect is depends on the portion involved and the degree depends on the time at which the maldevelopment occurs. (author)

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

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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.

Expression of cysLT1 and cysLT2 Receptor in Chronic Hyperplastic Eosinophilic Sinusitis

International Nuclear Information System (INIS)

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

2009-01-01

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

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

International Nuclear Information System (INIS)

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

2007-01-01

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

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

International Nuclear Information System (INIS)

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

2008-01-01

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

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.

Genetics Home Reference: coloboma

Science.gov (United States)

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

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

Science.gov (United States)

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

2011-12-01

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

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.

[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.

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

Science.gov (United States)

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

2011-12-28

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

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.

Preoperative localization of enlarged parathyroid glands by 99mTc-MIBI scintigraphy

International Nuclear Information System (INIS)

Fujimoto, Nobumasa; Itoh, Kiichiro; Kishikawa, Hidehumi; Tohda, Akira; Takaha, Natsuki; Kobayashi, Yoshiyuki; Nakamori, Shigeru; Sagawa, Shiro; Sonoda, Takao

1997-01-01

From June 1994 to September 1996, 24 patients with biochemical confirmation of hyperparathyroidism were studied with 99m Tc-MIBI scintigraphy prior to operation. Eleven patients had primary hyperparathyroidism (PHPT) and 13 had secondary hyperparathyroidism (SHPT) associated with chronic renal failure, including one patient with recurrent disease after subtotal parathyroidectomy. A positive 99m Tc-MIBI scan for an enlarged gland was defined as an area of persistent focal uptake on the delayed image acquired at 150 min after intravenous injection of 600 MBq of 99m Tc-MIBI. Of 11 patients with PHPT, 10 were found to have solitary parathyroid adenomas at surgery and one patient had primary hyperplasia. 99m Tc-MIBI scintigraphy accurately detected 9 of 10 adenomas and 2 of 3 hyperplastic glands with no false positive results. Both of the two glands that were not detected by 99m Tc-MIBI weighted 200 mg. The mean weight of the 11 glands that were visualized was 1264 mg. The sensitivity and predictive value positive for PHPT were 84.6% and 100%, respectively. In 13 patients with SHPT, all of 49 parathyroid glands were identified during surgery, with 43 hyperplastic glands and 6 normal-size glands. Of 43 hyperplastic glands, 28 were detected by 99m Tc-MIBI and there was significant difference between the mean weight of these 28 glands and that of the 15 nonimaged hyperplastic glands. None of the six normal glands were imaged with 99m Tc-MIBI. One patient had a false positive scan caused by a thyroid nodule. The sensitivity and predictive value positive for SHPT were 65.1% and 96.6%, respectively. (K.H.)

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.

Persistent Aerial Tracking

KAUST Repository

Mueller, Matthias

2016-01-01

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

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

Science.gov (United States)

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

2010-08-01

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

Persistent angina

DEFF Research Database (Denmark)

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

2013-01-01

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

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

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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.

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

Science.gov (United States)

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

2016-08-01

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

Inflation persistence and flexible prices

OpenAIRE

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

2004-01-01

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

Physical trust-based persistent authentication

DEFF Research Database (Denmark)

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

2015-01-01

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

New-found fundamentals of bacterial persistence.

Science.gov (United States)

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

2012-12-01

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

Persistent homology of complex networks

International Nuclear Information System (INIS)

Horak, Danijela; Maletić, Slobodan; Rajković, Milan

2009-01-01

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

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

Science.gov (United States)

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

2014-06-01

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

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.

Persistent myalgia following whiplash.

Science.gov (United States)

Dommerholt, Jan

2005-10-01

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

Persistent luminescence nanothermometers

Science.gov (United States)

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

2017-08-01

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

Is bacterial persistence a social trait?

Directory of Open Access Journals (Sweden)

Andy Gardner

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

Dualities in persistent (co)homology

International Nuclear Information System (INIS)

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

2011-01-01

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

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.

Introduction: Persistent Modelling

DEFF Research Database (Denmark)

Ayres, Phil

2012-01-01

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

Persistent and recurrent hyperparathyroidism.

Science.gov (United States)

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

2017-06-01

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

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

Persistence Characteristics of Australian Rainfall Anomalies

Science.gov (United States)

Simmonds, Ian; Hope, Pandora

1997-05-01

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

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.

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

International Nuclear Information System (INIS)

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

2016-01-01

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

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

Energy Technology Data Exchange (ETDEWEB)

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

2016-03-28

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

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....

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

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Musa Drini

2011-02-01

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

Using Benchmarking To Strengthen the Assessment of Persistence.

Science.gov (United States)

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

2017-01-03

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

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.

The persistence of depression score

NARCIS (Netherlands)

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

2006-01-01

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

Drought Persistence Errors in Global Climate Models

Science.gov (United States)

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

2018-04-01

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

Stochastic convergence of persistence landscapes and silhouettes

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Frédéric Chazal

2015-03-01

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

Missed diagnosis-persistent delirium

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Aseem Mehra

2014-01-01

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

Bacterial persistence

Indian Academy of Sciences (India)

PRAKASH KUMAR

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

Ranking of persister genes in the same Escherichia coli genetic background demonstrates varying importance of individual persister genes in tolerance to different antibiotics

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Nan eWu

2015-09-01

Full Text Available Despite the identification of many genes and pathways involved in the persistence phenomenon of bacteria, the relative importance of these genes in a single organism remains unclear. Here, using Escherichia coli as a model, we generated mutants of 21 known candidate persister genes and compared the relative importance of these mutants in persistence to various antibiotics (ampicillin, gentamicin, norfloxacin, and trimethoprim at different times. We found that oxyR, dnaK, sucB, relA, rpoS, clpB, mqsR, and recA were prominent persister genes involved in persistence to multiple antibiotics. These genes map to the following pathways: antioxidative defense pathway (oxyR, global regulators (dnaK, clpB, and rpoS, energy production (sucB, stringent response (relA, toxin–antitoxin (TA module (mqsR, and SOS response (recA. Among the TA modules, the ranking order was mqsR, lon, relE, tisAB, hipA, and dinJ. Intriguingly, rpoS deletion caused a defect in persistence to gentamicin but increased persistence to ampicillin and norfloxacin. Mutants demonstrated dramatic differences in persistence to different antibiotics at different time points: some mutants (oxyR, dnaK, phoU, lon, recA, mqsR, and tisAB displayed defect in persistence from early time points, while other mutants (relE, smpB, glpD, umuD, and tnaA showed defect only at later time points. These results indicate that varying hierarchy and importance of persister genes exist and that persister genes can be divided into those involved in shallow persistence and those involved in deep persistence. Our findings suggest that the persistence phenomenon is a dynamic process with different persister genes playing roles of variable significance at different times. These findings have implications for improved understanding of persistence phenomenon and developing new drugs targeting persisters for more effective cure of persistent infections.

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

DEFF Research Database (Denmark)

Møller, Niels Framroze

2016-01-01

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

Persistence of Women in Online Degree-Completion Programs

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Terry Müller

2008-06-01

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

Laboratory diagnosis of persistent human chlamydial infection

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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.

Exploring Non-Traditional Adult Undergraduate Student Persistence and Non-Persistence in Higher Education: A Stress and Coping Model Approach

Science.gov (United States)

Maroney, Barbara R.

2010-01-01

This study explores persistence and non-persistence among adult undergraduate students with particular focus on these students' lives, their stressors, their coping resources including academic supports, and their styles of coping. The study approaches the issue of non-persistence not as a personal failure but rather as a consequence of multiple…

Persistent insomnia is associated with mortality risk.

Science.gov (United States)

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

2015-03-01

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

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.

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...

DNA-crosslinker cisplatin eradicates bacterial persister cells.

Science.gov (United States)

Chowdhury, Nityananda; Wood, Thammajun L; Martínez-Vázquez, Mariano; García-Contreras, Rodolfo; Wood, Thomas K

2016-09-01

For all bacteria, nearly every antimicrobial fails since a subpopulation of the bacteria enter a dormant state known as persistence, in which the antimicrobials are rendered ineffective due to the lack of metabolism. This tolerance to antibiotics makes microbial infections the leading cause of death worldwide and makes treating chronic infections, including those of wounds problematic. Here, we show that the FDA-approved anti-cancer drug cisplatin [cis-diamminodichloroplatinum(II)], which mainly forms intra-strand DNA crosslinks, eradicates Escherichia coli K-12 persister cells through a growth-independent mechanism. Additionally, cisplatin is more effective at killing Pseudomonas aeruginosa persister cells than mitomycin C, which forms inter-strand DNA crosslinks, and cisplatin eradicates the persister cells of several pathogens including enterohemorrhagic E. coli, Staphylococcus aureus, and P. aeruginosa. Cisplatin was also highly effective against clinical isolates of S. aureus and P. aeruginosa. Therefore, cisplatin has broad spectrum activity against persister cells. Biotechnol. Bioeng. 2016;113: 1984-1992. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

On persistence interfaces for scientific data stores

International Nuclear Information System (INIS)

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

1996-01-01

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

Persistence of stapedial artery: a case report

International Nuclear Information System (INIS)

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

2013-01-01

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

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.

Requirement of Smad4 from Ocular Surface Ectoderm for Retinal Development.

Science.gov (United States)

Li, Jing; Wang, Shusheng; Anderson, Chastain; Zhao, Fangkun; Qin, Yu; Wu, Di; Wu, Xinwei; Liu, Jia; He, Xuefei; Zhao, Jiangyue; Zhang, Jinsong

2016-01-01

Microphthalmia is characterized by abnormally small eyes and usually retinal dysplasia, accounting for up to 11% of the blindness in children. Right now there is no effective treatment for the disease, and the underlying mechanisms, especially how retinal dysplasia develops from microphthalmia and whether it depends on the signals from lens ectoderm are still unclear. Mutations in genes of the TGF-β superfamily have been noted in patients with microphthalmia. Using conditional knockout mice, here we address the question that whether ocular surface ectoderm-derived Smad4 modulates retinal development. We found that loss of Smad4 specifically on surface lens ectoderm leads to microphthalmia and dysplasia of retina. Retinal dysplasia in the knockout mice is caused by the delayed or failed differentiation and apoptosis of retinal cells. Microarray analyses revealed that members of Hedgehog and Wnt signaling pathways are affected in the knockout retinas, suggesting that ocular surface ectoderm-derived Smad4 can regulate Hedgehog and Wnt signaling in the retina. Our studies suggest that defective of ocular surface ectoderm may affect retinal development.

Modulation of antigen presenting cell functions during chronic HPV infection

Directory of Open Access Journals (Sweden)

Abate Assefa Bashaw

2017-12-01

Full Text Available High-risk human papillomaviruses (HR-HPV infect basal keratinocytes, where in some individuals they evade host immune responses and persist. Persistent HR-HPV infection of the cervix causes precancerous neoplasia that can eventuate in cervical cancer. Dendritic cells (DCs are efficient in priming/cross-priming antigen-specific T cells and generating antiviral and antitumor cytotoxic CD8+ T cells. However, HR-HPV have adopted various immunosuppressive strategies, with modulation of DC function crucial to escape from the host adaptive immune response. HPV E6 and E7 oncoproteins alter recruitment and localization of epidermal DCs, while soluble regulatory factors derived from HPV-induced hyperplastic epithelium change DC development and influence initiation of specific cellular immune responses. This review focuses on current evidence for HR-HPV manipulation of antigen presentation in dendritic cells and escape from host immunity.

Low-Grade Persistent Hyperparathyroidism After Pediatric Renal Transplant.

Science.gov (United States)

Gulleroglu, Kaan; Baskin, Esra; Moray, Gokhan; Haberal, Mehmet

2016-06-01

Hyperparathyroidism, a frequent complication of chronic kidney disease, persists after renal transplant. Our aims were to examine the status of parathyroid hormone levels and to determine the clinical and biochemical risk factors of persistent hyperparathyroidism after transplant. Our study included 44 pediatric renal transplant recipients with stable graft function. Median follow-up after transplant was 17.5 months (range, 12-126 mo). Patients did not receive routine vitamin D or calcium supplements after transplant, and none had undergone previous parathyroidectomy. Bone mineral densitometry of the lumbar spine was measured. Fifteen patients (34%) had parathyroid hormone levels greater than 70 pg/mL (normal range, 10-70 pg/mL). Duration of dialysis before transplant was longer in patients with persistent hyperparathyroidism. Mean serum bicarbonate levels were significantly lower in patients with persistent hyperparathyroidism than in patients without persistent hyperparathyroidism after transplant. A significant negative correlation was noted between parathyroid hormone level and serum bicarbonate level. Another significant negative correlation was shown between parathyroid hormone level and z score. We found that persistent hyperparathyroidism is related to longer dialysis duration, lower serum bicarbonate level, and lower z score. Pretransplant dialysis duration is an important predictor of persistent hyperparathyroidism. Early identification of factors that contribute to persistent hyperparathyroidism after transplant could lead to treatment strategies to minimize or prevent its detrimental effects on bone health and growth in pediatric transplant recipients.

Fundamental bound on the persistence and capacity of short-term memory stored as graded persistent activity.

Science.gov (United States)

Koyluoglu, Onur Ozan; Pertzov, Yoni; Manohar, Sanjay; Husain, Masud; Fiete, Ila R

2017-09-07

It is widely believed that persistent neural activity underlies short-term memory. Yet, as we show, the degradation of information stored directly in such networks behaves differently from human short-term memory performance. We build a more general framework where memory is viewed as a problem of passing information through noisy channels whose degradation characteristics resemble those of persistent activity networks. If the brain first encoded the information appropriately before passing the information into such networks, the information can be stored substantially more faithfully. Within this framework, we derive a fundamental lower-bound on recall precision, which declines with storage duration and number of stored items. We show that human performance, though inconsistent with models involving direct (uncoded) storage in persistent activity networks, can be well-fit by the theoretical bound. This finding is consistent with the view that if the brain stores information in patterns of persistent activity, it might use codes that minimize the effects of noise, motivating the search for such codes in the brain.

Novel protocol for persister cells isolation.

Directory of Open Access Journals (Sweden)

Silvia J Cañas-Duarte

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

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

Herbicide Persistence in Seawater Simulation Experiments

Science.gov (United States)

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

2015-01-01

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

Fryns anophthalmia-plus syndrome: two rare cases.

Science.gov (United States)

Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

2014-01-01

Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

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.

Persistent agents in Axelrod's social dynamics model

Science.gov (United States)

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

2016-01-01

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

Traumatic thoracic injury: the role of Multidetector-row CT

International Nuclear Information System (INIS)

Lim, Se Kyong; Shin, Kyung Sook; Kim, Ha Young; Sung, Jae Kyu; Jung, Hyun Yong; Noh, Seong Moo; Song, Kyu Sang; Cho, June Sik

2006-01-01

Hyperplastic polyps are common gastric lesions that are characterized by nonneoplastic epithelial hyperplasia. However, to our knowledge, there are no reports of a hyperplastic polyp arising from an endoscopic mucosectomy site of early gastric cancer. We describe the CT findings with a histopathology correlation in a case of a hyperplastic polyp arising from a mucosectomy site that mimicked polypoid gastric cancer

Traumatic thoracic injury: the role of Multidetector-row CT

Energy Technology Data Exchange (ETDEWEB)

Lim, Se Kyong; Shin, Kyung Sook; Kim, Ha Young; Sung, Jae Kyu; Jung, Hyun Yong; Noh, Seong Moo; Song, Kyu Sang; Cho, June Sik [Chungnam National University School of Medicine, Daejeon (Korea, Republic of)

2006-05-15

Hyperplastic polyps are common gastric lesions that are characterized by nonneoplastic epithelial hyperplasia. However, to our knowledge, there are no reports of a hyperplastic polyp arising from an endoscopic mucosectomy site of early gastric cancer. We describe the CT findings with a histopathology correlation in a case of a hyperplastic polyp arising from a mucosectomy site that mimicked polypoid gastric cancer.

Persistence in the Cryptocurrency Market

OpenAIRE

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

2017-01-01

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

Treatment of acral persistent papular mucinosis with electrocoagulation.

Science.gov (United States)

André Jorge, Flávia; Mimura Cortez, Tatiana; Guadalini Mendes, Fabiana; Esther Alencar Marques, Mariângela; Amante Miot, Hélio

2011-01-01

Acral persistent papular mucinosis is a rare localized form of lichen myxedematosus with few case reports and no documented therapeutic options. To report full resolution of acral persistent papular mucinosis after electrocoagulation. Case report of a 51-year-old white female diagnosed with an acral persistent papular mucinosis. The clinical and histopathologic features, treatment provided, and response to treatment are detailed. Acral persistent papular mucinosis presented as multiple asymptomatic normochromic papules on the wrists. Treatment with topical and intralesional steroids was unsatisfactory. Gentle electrocoagulation led to complete resolution of the lesions and negligible scarring. The favorable results remained for 6 months of follow-up, and no new lesions have emerged. Our case of acral persistent papular mucinosis was successfully treated with electrocoagulation and long-lasting, excellent cosmetic results.

Spatial patterns of drought persistence in East China

Science.gov (United States)

Meng, L.; Ford, T.

2017-12-01

East China has experienced a number of severe droughts in recent decades. Understanding the characteristics of droughts and their persistence will provide operational guidelines for water resource management and agricultural production. This study uses a logistic regression model to measure the probability of drought occurrence in the current season given the previous season's Standardized Precipitation Index (SPI) and Southern Oscillation Index (SOI) as well as drought persistence. Results reveal large spatial and seasonal variations in the relationship between the previous season's SPI and the drought occurrence probability in a given season. The drought persistence averaged over the entire study area for all the four seasons is approximately 34% with large variations from season to season and from region to region. The East and Northeast regions have the largest summer drought persistence ( 40%) and lowest fall drought persistence ( 28%). The spatial pattern in winter and spring drought persistence is dissimilar with stronger winter and weaker spring drought persistence in the Southwest and Northeast relative to other regions. Logistic regression analysis indicates a stronger negative relationship in summer-to-fall (or between fall drought occurrence and summer SPI) than other inter-season relationships. This study demonstrates that the impact of previous season SPI and SOI on current season drought varies substantially from region to region and from season to season. This study also shows stronger drought persistence in summer than in other seasons. In other words, the probability of fall drought occurrence is closely related to summer moisture conditions in the East China.

Persistence in the WFC3 IR Detector: Intrinsic Variability

Science.gov (United States)

Long, Knox S.; Baggett, Sylvia M.

2018-03-01

When the WFC3 IR detector is exposed to a bright source or sources, the sources can appear as afterimages in subsequent exposures, a phenomenon known as persistence. This can affect the science obtained with the IR channel. We have been involved in an effort to predict the brightness of the afterimages so that users can (at a minimum) flag the affected pixels and remove them from their analysis or (even better) subtract the afterimages from their science images to salvage the data. The ability of any model to remove afterimages depends on the degree to which persistence is the same for identical sets of exposures. We investigate possible time variability of persistence in the WFC3 detector using sets of (almost) identical visits comprised of single exposures of Omega Cen followed by a series of darks in which persistence is measured. We analyze 8 data sets, each consisting of two or three identical visits, with stimulus exposures between 49 and 1199 s, and find clear evidence of variability in several of the datasets in darks taken within 1000 s of the stimulus exposure. In most of the datasets, the difference in persistence for saturated pixels in the stimulus exposure is a power law decay; the visit with higher persistence has a higher power law amplitude. There was nothing unusual about the observing conditions preceding and during each of these visits that can explain the discrepancy in persistence levels. Variation in persistence implies that: (1) Unless and until the source of the variability is understood, any persistence model for the WFC3 array will be limited in its ability to predict persistence in a single observation, and, (2) as a consequence, users should always carefully inspect the results of any attempt to subtract persistence from WFC3 IR data based on a model prediction.

Non-persistent pesticides removal in constructed wetlands

Science.gov (United States)

Tu, Yue; Jiang, Lei; Li, Haixiang

2018-03-01

The heavy use of non-persistent pesticides, resulting in the accumulation of environment and destroy the aquatic environment. This paper presents the research status of using CWs to treat non-persistent pesticides in water. The removal mechanisms are mainly physical deposition, chemical hydrolysis and plant absorption. Analysis of the factors that affect the removal effect are mainly the nature of pesticides, HRT, plants. Some scholars have proposed that secondary products of non-persistent pesticides may be more harmful to the environment, However, the relevant reports are scarce.

Near-Infrared Quantum Cutting Long Persistent Luminescence

OpenAIRE

Zou, Zehua; Feng, Lin; Cao, Cheng; Zhang, Jiachi; Wang, Yuhua

2016-01-01

By combining the unique features of the quantum cutting luminescence and long persistent luminescence, we design a new concept called ?near-infrared quantum cutting long persistent luminescence (NQPL)?, which makes it possible for us to obtain highly efficient (>100%) near-infrared long persistent luminescence in theory. Guided by the NQPL concept, we fabricate the first NQPL phosphor Ca2Ga2GeO7:Pr3+,Yb3+. It reveals that both the two-step energy transfer of model (I) and the one-step energy ...

Prediction of antibody persistency from antibody titres to natalizumab

DEFF Research Database (Denmark)

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

2012-01-01

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

Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

Science.gov (United States)

Numakura, Chikahiko; Kitanaka, Sachiko; Kato, Mitsuhiro; Ishikawa, Shigeo; Hamamoto, Yoshioki; Katsushima, Yuriko; Kimura, Toshiyuki; Hayasaka, Kiyoshi

2010-09-01

SOX2 anophthalmia syndrome characteristically presents as anophthalmia or microphthalmia, with various extraocular symptoms, such as hypogonadotropic hypogonadism, brain anomaly, and esophageal abnormalities. In this report, we describe a patient with SOX2 anophthalmia syndrome complicated with a dental anomaly, multiple supernumerary impacted teeth, and persistence of deciduous teeth. Multiple supernumerary teeth are usually not solitary symptoms, but indicate systemic syndrome such as cleidocranial dysplasia. In odontogenesis, many transcriptional factors, such as BMPs, FGFs, and Wnts, play significant roles and SOX2 is known to interact with some of them. The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases.

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.

Persistence and drug tolerance in pathogenic yeast

DEFF Research Database (Denmark)

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

2017-01-01

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

Persistent and non-persistent strains of Listeria monocytogenes: A focus on growth kinetics under different temperature, salt, and pH conditions and their sensitivity to sanitizers.

Science.gov (United States)

Magalhães, R; Ferreira, V; Brandão, T R S; Palencia, R Casquete; Almeida, G; Teixeira, P

2016-08-01

This study aimed to investigate the effect of different conditions, including temperature (37 °C, 22 °C, and 4 °C), NaCl concentrations (2.5%, 4%, and 8%), and acidity (pH = 5), on the growth response of persistent and non-persistent isolates of Listeria monocytogenes. The resistance to two common sanitizers (benzalkonium chloride and hydrogen peroxide) was also investigated. A selected group of 41 persistent and non-persistent L. monocytogenes isolates recovered from three cheese processing plants during a previous longitudinal study was assembled. Average lag time was similar for persistent and non-persistent isolates grown at 37 °C, 22 °C and 4 °C but significantly shorter (p < 0.05) for persistent isolates grown at 2.5%, 4% and 8% NaCl, and at pH 5. Average growth rates were significantly higher (p < 0.05) for persistent than for non-persistent isolates when grown at 22 °C, 2.5%, 4% and 8% NaCl, and at pH 5. These results suggest that persistent strains may be better adapted to grow under stressful conditions frequently encountered in food processing environments than non-persistent strains. No relation between persistence and resistance to the tested sanitizers was found. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Persistence of Mutual Fund Performance.

OpenAIRE

Grinblatt, Mark; Titman, Sheridan

1992-01-01

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

Statistical Inference for Porous Materials using Persistent Homology.

Energy Technology Data Exchange (ETDEWEB)

Moon, Chul [Univ. of Georgia, Athens, GA (United States); Heath, Jason E. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Mitchell, Scott A. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

2017-12-01

We propose a porous materials analysis pipeline using persistent homology. We rst compute persistent homology of binarized 3D images of sampled material subvolumes. For each image we compute sets of homology intervals, which are represented as summary graphics called persistence diagrams. We convert persistence diagrams into image vectors in order to analyze the similarity of the homology of the material images using the mature tools for image analysis. Each image is treated as a vector and we compute its principal components to extract features. We t a statistical model using the loadings of principal components to estimate material porosity, permeability, anisotropy, and tortuosity. We also propose an adaptive version of the structural similarity index (SSIM), a similarity metric for images, as a measure to determine the statistical representative elementary volumes (sREV) for persistence homology. Thus we provide a capability for making a statistical inference of the uid ow and transport properties of porous materials based on their geometry and connectivity.

Modelling asymmetric persistence over the business cycle

NARCIS (Netherlands)

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

1998-01-01

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

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...

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

Persistent facial pain conditions

DEFF Research Database (Denmark)

Forssell, Heli; Alstergren, Per; Bakke, Merete

2016-01-01

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

Disease: H01027 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01027 Anophthalmia and microphthalmia (A/M); Nanophthalmia/ Nanophthalmos Anophth...BP4 [HSA:5950] [KO:K18271] (isolated) RAX [HSA:30062] [KO:K09332] (isolated/nanophthalmia) MFRP [HSA:83552] ...(isolated) PRSS56 [HSA:646960] (isolated) ALDH1A3 [HSA:220] [KO:K00129] (nanophthalmia...ent misuse ... Simple microphthalmia refers to a structurally normal, small eye, and has been used interchangeably with nanophthalmia

Persistent Structural Priming from Language Comprehension to Language Production

Science.gov (United States)

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

2007-01-01

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

THE ROLE OF PERSISTENCE IN STUDENTS’ SELF-REALIZATION

Directory of Open Access Journals (Sweden)

Sergey I. Kudinov

2017-12-01

Full Text Available The paper analyzes the results of an empirical research obtained with the help of a sample of students. The research of persistence was carried out within the framework of the dispositional concept of personality traits and individuality by A. I. Krupnov. The techniques developed by A. I. Krupnov as well as the author’s test of persistence were used in the study. After allocating the levels of persistence, the features of self-realization were analyzed in each group of the respondents. The specificity of self-realization was revealed in the context of the author’s polysystemic concept, the author’s multidimensional questionnaire on personality’s self-realization (MQPSR was used as a diagnostic tool. The empirical study revealed statistically significant differences in the specifics of self-realization of the students with different levels of persistence manifestation. The respondents with a high level of persistence realize themselves more successfully in different spheres of life due to the obvious active behaviour, optimistic attitude, high motivation, creative methods and techniques of self-expression, internal self-regulation and constructive behavior. The students with low persistence lack successful self-realization because of passivity, pessimism, external locus of self-control, a high level of barriers and standard simple schemes of self-expression.

Management of denture-induced epulis fissuratum with Er,Cr:YSGG laser: a case report

Science.gov (United States)

Koli, Dheeraj Kumar; Gupta, Manak; Verma, Mahesh; Lamba, Arundeep Kaur; Chawla, Kirti

2012-01-01

Epulis fissuratum refers to tissue growth into the oral cavity, located over the alveolar ridges or the soft tissues of the vestibular sulcus. Trauma and irritation are important aetiological factors for epulis fissuratum and lesions arise in areas of persistent mucosal injury. This report presents a case of a 68-year old male patient with two soft tissue hyperplastic growths seen in the buccal vestibule in the lower anterior region. These lesions were removed using an Er,Cr:YSGG laser. The healing was uneventful and no suture or analgesic was required. The histopathological report confirmed the presurgical diagnosis. No relapse was observed till one year after surgery.

Nephrogenic rests mimicking Wilms' tumor on CT

International Nuclear Information System (INIS)

Subhas, Naveen; Siegelman, Stanley S.; Argani, Pedram; Gearhart, John P.

2004-01-01

Nephrogenic rests (NR) are persistent benign remnants of embryonic renal tissue. A small percentage of these may develop into Wilms' tumor (WT). Radiologic imaging is relied upon to differentiate between these entities, with the hallmark of malignant transformation being growth on serial imaging studies. There is, however, considerable overlap in their imaging characteristics. The authors present a case of two biopsy-proven NR in a 2-year-old girl with sporadic aniridia that were indistinguishable from WT on initial radiologic studies. One of the NR grew on serial imaging studies mimicking a WT, but after resection was confirmed to be a benign hyperplastic NR on pathologic examination. (orig.)

Nephrogenic rests mimicking Wilms' tumor on CT

Energy Technology Data Exchange (ETDEWEB)

Subhas, Naveen; Siegelman, Stanley S. [Russell H. Morgan Department of Radiology, The Johns Hopkins Hospital and School of Medicine, 600 N. Wolfe St., 21287, Baltimore, MD (United States); Argani, Pedram [Department of Pathology, Johns Hopkins Hospital and School of Medicine, 21287, Baltimore, MD (United States); Gearhart, John P. [Department of Pediatric Urology, Brady Urologic Institute, The Johns Hopkins Hospital and School of Medicine, 21287, Baltimore, MD (United States)

2004-02-01

Nephrogenic rests (NR) are persistent benign remnants of embryonic renal tissue. A small percentage of these may develop into Wilms' tumor (WT). Radiologic imaging is relied upon to differentiate between these entities, with the hallmark of malignant transformation being growth on serial imaging studies. There is, however, considerable overlap in their imaging characteristics. The authors present a case of two biopsy-proven NR in a 2-year-old girl with sporadic aniridia that were indistinguishable from WT on initial radiologic studies. One of the NR grew on serial imaging studies mimicking a WT, but after resection was confirmed to be a benign hyperplastic NR on pathologic examination. (orig.)

Inefficiency persistence and heterogeneity in Colombian electricity utilities

International Nuclear Information System (INIS)

Galán, Jorge E.; Pollitt, Michael G.

2014-01-01

The electricity reform in Colombia has exhibited gains in terms of reliability but its effects on firm efficiency and service quality have not been clear. Previous studies evaluating the performance of distribution companies after the reform have not found evidence of improvements, although large differences in efficiency have been found among firms. This suggests high inefficiency persistence and heterogeneity in the Colombian distribution sector. In this paper, we propose an extension of dynamic stochastic frontier models that accounts for unobserved heterogeneity in the inefficiency persistence and in the technology. The model incorporates total expenses, service quality and energy losses in an efficiency analysis of Colombian distributors over fifteen years after the reform. We identify the presence of high inefficiency persistence in the sector, and important differences between firms. In particular, rural companies and firms with small customers present low persistence and evidence the largest gains in efficiency during the period. However, increases in efficiency are only manifested during thelast five years when the main improvements in service quality and energy losses are presented. Overall, inefficiency persistence, customer density and consumption density are found to be important criteria to be considered for regulatory purposes. - Highlights: • We evaluate efficiency of Colombian electricity distributors after the reform. • We use a stochastic frontier model with dynamic effects and heterogeneity. • We find high inefficiency persistence but important differences among firms. • High persistent and low efficient firms should draw the attention of the regulator. • Recent regulation in quality has increased not only efficiency but also tariffs

Persistence among Minority STEM Majors: A Phenomenological Study

Science.gov (United States)

Williams-Watson, Stacey

The United States needs to increase the number of science, technology, engineering, and math (STEM) graduates to remain competitive in the global market and maintain national security. Minority students, specifically African-American and Hispanic, are underrepresented in STEM fields. As the minority population continues to grow it is essential that higher education institutions improve minority students' persistence in STEM education. This study examined the problem of minority students' lack of persistence in STEM programs. The purpose of this qualitative transcendental phenomenological study was to describe the lived experiences that minority students perceived as contributing to their persistence in STEM. The central research question was: What are the lived experiences of minority STEM students that have contributed to their persistence in a STEM program? The sub-questions were: a) What led participants to majors in STEM?; b) What contributed to students' success and persistence in STEM?; and c) What advice do students have to offer? The researcher interviewed 12 minority STEM students and uncovered 10 themes that described the lived experiences of minority students' persistence in STEM programs. The themes were 1) Childhood experiences and interests; 2) Positive educational experiences in secondary school; 3) Self- motivation; 4) Positive experiences with professors; 5) Family encouragement and values; 6) Lack of minorities; 7) Lack of educational preparation; 8) The need for financial assistance; 9) Clubs and organizations; and 10) Friends within the major. The significance of these findings is the potential to produce changes in curricula, programs, and retention methods that may improve the persistence of minority students in STEM programs.

Persistence of Mycoplasma genitalium following azithromycin therapy.

Directory of Open Access Journals (Sweden)

Catriona S Bradshaw

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

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

Parathyroid autotransplantation in forty-four patients with primary hyperparathyroidism: the role of thallium scanning

International Nuclear Information System (INIS)

McCall, A.R.; Calandra, D.; Lawrence, A.M.; Henkin, R.; Paloyan, E.

1986-01-01

Forty-four patients with primary hyperparathyroidism were followed for 18 to 126 months after subtotal or total parathyroidectomy and parathyroid autotransplantation. Indications for autotransplantation included the devascularization of parathyroid glands during concomitant thyroid lobectomy or total thyroidectomy and the excision of the only remaining parathyroid tissue in patients with persistent hyperparathyroidism after previous unsuccessful parathyroidectomies. Before implantation, all parathyroid tissue was histologically evaluated by frozen-section light microscopy with hematoxylin and eosin stain. Fifteen patients had histologically normal implants; to date none of these patients have developed recurrent hyperparathyroidism. Twenty-nine patients had either adenomatous or hyperplastic parathyroid tissue used for implants; two of these patients developed graft-dependent recurrent hyperparathyroidism 4 and 7 years later. In both patients the grafts were preoperatively localized by thallium scanning and their resection restored eucalcemia. One hundred thirty-one patients from 11 series in the current literature had a cumulative incidence of 17.5% for presumed graft-dependent recurrence and a 9.2% incidence of graft excision followed by eucalcemia. In comparison, in the present series the incidence of graft-dependent recurrent hyperparathyroidism in patients with either adenomatous or hyperplastic implants stands at 6.9%. In contrast, in 15 patients with normal parathyroid tissue implants, the incidence was zero

Demonstration of persistent contamination of a cooked egg product production facility with Salmonella enterica serovar Tennessee and characterization of the persistent strain

DEFF Research Database (Denmark)

Jakociune, D.; Bisgaard, M.; Pedersen, Karl

2014-01-01

Aims: The aim of this study was to investigate whether continuous contamination of light pasteurized egg products with Salmonella enterica serovar Tennessee (S. Tennessee) at a large European producer of industrial egg products was caused by persistent contamination of the production facility......, members of the persistent clone were weak producers of H2S in laboratory medium. S. Tennessee isolated from the case was able to grow better in pasteurized egg product compared with other serovars investigated. Conclusions: It was concluded that the contamination was caused by a persistent strain...... in the production facility and that this strain apparently had adapted to grow in the relevant egg product. Significance and Impact of the Study: S. Tennessee has previously been associated with persistence in hatching facilities. This is the first report of persistent contamination of an egg production facility...

A model for persistency of egg production

NARCIS (Netherlands)

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

2000-01-01

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

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.

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.

Rotenone persistence model for montane streams

Science.gov (United States)

Brown, Peter J.; Zale, Alexander V.

2012-01-01

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

Persistent organic pollutants

NARCIS (Netherlands)

Dungen, van den M.W.

2016-01-01

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

Bacterial persistence: some new insights into an old phenomenon

Indian Academy of Sciences (India)

PRAKASH KUMAR

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

Persistent infection caused by Hobi-like pestivirus.

Science.gov (United States)

Decaro, Nicola; Losurdo, Michele; Lucente, Maria Stella; Sciarretta, Rossana; Mari, Viviana; Larocca, Vittorio; Elia, Gabriella; Cavaliere, Nicola; Martella, Vito; Fasanella, Antonio; Buonavoglia, Canio

2013-04-01

A calf persistently infected by Hobi-like pestivirus was monitored for about 6 months, displaying clinical signs typical of bovine viral diarrhea virus persistent infection and shedding the virus through all body secretions, with maximal titers detected in urine. This report provides new insights into the pathogenesis of the emerging pestivirus.

Presynaptic learning and memory with a persistent firing neuron and a habituating synapse: a model of short term persistent habituation.

Science.gov (United States)

Ramanathan, Kiruthika; Ning, Ning; Dhanasekar, Dhiviya; Li, Guoqi; Shi, Luping; Vadakkepat, Prahlad

2012-08-01

Our paper explores the interaction of persistent firing axonal and presynaptic processes in the generation of short term memory for habituation. We first propose a model of a sensory neuron whose axon is able to switch between passive conduction and persistent firing states, thereby triggering short term retention to the stimulus. Then we propose a model of a habituating synapse and explore all nine of the behavioral characteristics of short term habituation in a two neuron circuit. We couple the persistent firing neuron to the habituation synapse and investigate the behavior of short term retention of habituating response. Simulations show that, depending on the amount of synaptic resources, persistent firing either results in continued habituation or maintains the response, both leading to longer recovery times. The effectiveness of the model as an element in a bio-inspired memory system is discussed.

Impact of persistence and non-persistence in leisure time physical activity on coronary heart disease and all-cause mortality

DEFF Research Database (Denmark)

Schnohr, Peter; O'Keefe, James H.; Lange, Peter

2017-01-01

Aims: The aim of this study was to investigate the impact of persistence and non-persistence in leisure time physical activity on coronary heart disease and all-cause mortality. Methods and results: In the Copenhagen City Heart Study, we prospectively followed 12,314 healthy subjects for 33 years...

Generating Dynamic Persistence in the Time Domain

Science.gov (United States)

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

2001-12-01

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

BEAM-BASED MEASUREMENTS OF PERSISTENT CURRENT DECAY IN RHIC

International Nuclear Information System (INIS)

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

2001-01-01

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

Using latent selection difference to model persistence in a declining population.

Directory of Open Access Journals (Sweden)

Mara E Erickson

Full Text Available Population persistence is a direct measure of the viability of a population. Monitoring the distribution of declining populations or subpopulations over time can yield estimates of persistence, which we show can be modeled as a latent selection difference (LSD contrasting attributes of sites where populations have persisted versus those that have not. Predicted persistence can be modeled with predictor covariates to identify factors correlated with species persistence. We demonstrate how to model persistence based on changes in occupancy that can include adjustments for detection probability. Using a known historical distribution of the western grebe (Aechmophorus occidentalis, we adapted methods originally developed for occupancy modeling to evaluate how environmental covariates including emergent vegetation and human developments have affected western grebe persistence in Alberta. The relative probability of persistence was correlated with the extent of shoreline bulrush (Scirpus lacustris, which is important vegetation for nesting cover. We also documented that western grebe populations were less likely to persist on lakes in the boreal forest, primarily located on the northern boundary of the species' range. Factors influencing occupancy were different than those determining persistence by western grebes; persistence and occupancy were not correlated. Persistence was more likely on lakes with recreational development, reflecting reliance by grebes on the larger, fish-bearing waterbodies that also are attractive for lakeshore development. Unfortunately, the correlation with recreational development on Alberta's lakes puts grebes at risk for loss of brood-rearing habitats--primary threats to altricial birds--if steps are not taken to prevent disturbance to bulrush stands. Identifying factors related to the persistence of a species--especially one in decline--is a fundamental step in conservation management.

Quantification of image persistence in a digital angiography system

International Nuclear Information System (INIS)

Okkalides, D.P.; Raptou, P.D.

1993-01-01

Image persistence, as a characteristic of video imaging systems affecting the quality of fast moving fluoroscopic images, is shown to vary considerably. A simple quantitative method for measuring image persistence in a digital angiography system is presented, together with a series of image intensifier exposure-response curves. For the Saticon tube, used with the Siemens 3VA Digitron, it was found that persistence increased for low exposure rates and may increase to 31% at a 120 ms interval. In addition, a sharp increase in image persistence, from 8.3% to 33%, was observed within 18 months from installation of the system. (author)

Persistent Mullerian Duct Syndrome with Transverse Testicular ...

African Journals Online (AJOL)

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

Lymphogranuloma venereum causing a persistent genital ulcer.

Science.gov (United States)

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

2014-04-01

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

Persistent ovarian masses and pregnancy outcomes.

Science.gov (United States)

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

2013-07-01

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

Lesion progression in post-treatment persistent endodontic lesions.

Science.gov (United States)

Yu, Victoria Soo Hoon; Messer, Harold Henry; Shen, Liang; Yee, Robert; Hsu, Chin-ying Stephen

2012-10-01

Radiographic lesions related to root-filled teeth may persist for long periods after treatment and are considered to indicate failure of initial treatment. Persistent lesions are found in a proportion of cases, but information on lesion progression is lacking. This study examined the incidence of lesion improvement, remaining unchanged, and deterioration among persistent lesions in a group of patients recruited from a university-based clinic and identified potential predictors for lesion progression. Patients of a university clinic with persistent endodontic lesions at least 4 years since treatment and with original treatment radiographs available were recruited with informed consent. Data were obtained by interview and from dental records and clinical and radiographic examinations. Univariate and multivariate statistical analyses were carried out by using SPSS (version 19). One hundred fifty-one persistent lesions were identified in 114 patients. A majority of the lesions (107, 70.9%) received treatment between 4 and 5 years prior. Eighty-six lesions (57.0%) improved, 18 (11.9%) remained unchanged, and 47 (31.1%) deteriorated since treatment. Potential predictors for lesions that did not improve included recall lesion size, pain on biting at recall examination, history of a postobturation flare-up, and a non-ideal root-filling length (P < .05). Lesions that had persisted for a longer period appeared less likely to be improving (relative risk, 1.038; 95% confidence interval, 1.000-1.077). A specific time interval alone should not be used to conclude that a lesion will not resolve without intervention. This study identified several clinical factors that are associated with deteriorating persistent lesions, which should aid in identifying lesions that require further intervention. Copyright © 2012 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Living with persistent rheumatoid arthritis: a BARFOT study.

Science.gov (United States)

Bala, Sidona-Valentina; Samuelson, Karin; Hagell, Peter; Fridlund, Bengt; Forslind, Kristina; Svensson, Björn; Thomé, Bibbi

2017-09-01

To describe and understand the meaning of living with persistent rheumatoid arthritis. A considerable number of patients with rheumatoid arthritis live with an ongoing active and symptomatic illness despite access to potent antirheumatic treatment. There is, however, a lack of knowledge about the meaning of living with this severe long-term illness, defined as persistent rheumatoid arthritis. A descriptive design based on a hermeneutic phenomenological method was used. Ten adults with persistent rheumatoid arthritis and at least five years disease duration were interviewed. The interviews were analysed according to van Manen's method. Living with persistent rheumatoid arthritis revealed four overall themes: an existence dominated by painful symptoms and treatment, radical changes and limitations in one's life, a continual struggle to cope with one's life and to master the illness, and a dependency on those who are close by and the world around. The lifeworld was affected to a varying extent and in various ways by the illness but also by the dependence on its treatment and care that was not experienced as sufficiently meeting needs in terms of security, access to and coordination of care as well as team and rehabilitation services. Persistent rheumatoid arthritis and its treatment entail a radical effect on the person's life and quality of life. Current ordinary rheumatology care does not seem to meet the individual needs of the person with persistent rheumatoid arthritis in an optimal way. A greater knowledge about and understanding of the person who lives with persistent rheumatoid arthritis is important for facilitating the development of care and the relief of suffering. A holistic alternative to conventional clinical practice, such as person-centred care, could be tested as an innovative model of care. Our findings might serve as material for educational and counselling purposes for healthcare professionals. © 2016 John Wiley & Sons Ltd.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Science.gov (United States)

Bakrania, P; Robinson, D O; Bunyan, D J; Salt, A; Martin, A; Crolla, J A; Wyatt, A; Fielder, A; Ainsworth, J; Moore, A; Read, S; Uddin, J; Laws, D; Pascuel-Salcedo, D; Ayuso, C; Allen, L; Collin, J R O; Ragge, N K

2007-11-01

Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and young children. Heterozygous mutations in SOX2, a SOX1B-HMG box transcription factor, have been found in up to 10% of individuals with severe microphthalmia or anophthalmia and such mutations could also be associated with a range of non-ocular abnormalities. We performed mutation analysis on a new cohort of 120 patients with congenital eye abnormalities, mainly anophthalmia, microphthalmia and coloboma. Multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridisation (FISH) were used to detect whole gene deletion. We identified four novel intragenic SOX2 mutations (one single base deletion, one single base duplication and two point mutations generating premature translational termination codons) and two further cases with the previously reported c.70del20 mutation. Of 52 patients with severe microphthalmia or anophthalmia analysed by MLPA, 5 were found to be deleted for the whole SOX2 gene and 1 had a partial deletion. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. The SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development. Our results provide further evidence that SOX2 haploinsufficiency is a common cause of severe developmental ocular malformations and that background genetic variation determines the varying phenotypes. Given the high incidence of whole gene deletion we recommend that all patients with severe microphthalmia or anophthalmia, including unilateral cases be screened by MLPA and FISH for SOX2 deletions.

Transposon mutagenesis identifies novel genes associated with Staphylococcus aureus persister formation

Directory of Open Access Journals (Sweden)

Wang ewenjie

2015-12-01

Full Text Available Pathogenic bacterial persisters are responsible for the recalcitrance of chronic and persistent infections to antimicrobial therapy. Although the mechanisms of persister formation and survival have been widely studied in Escherichia coli, persistence mechanisms in S. aureus remain largely unknown. Here, we screened a transposon mutant library of a clinical methicillin-resistant Staphylococcus aureus（MRSA）strain, USA500 (ST8, under antibiotic pressure and identified 13 genes whose insertion mutations resulted in a defect in persistence. These candidate genes were further confirmed by evaluating the survival of the mutants upon exposure to levofloxacin and several other stress conditions. We found 13 insertion mutants with significantly lower persister numbers under several stress conditions, including sdhA, sdhB, ureG, mnhG1, fbaA, ctaB, clpX, parE, HOU_0223, HOU_0587, HOU_2091, HOU_2315 and HOU_2346, which mapped into pathways of oxidative phosphorylation, TCA cycle, glycolysis, cell cycle and ABC transporters, suggesting that these genes and pathways may play an important role in persister formation and survival. The newly constructed knockout strains of ureG, sdhA and sdhB and their complemented strains were also tested for defect in persisters following exposure to levofloxacin and several other stress conditions. The results from these experiments were consistent with the screening results, which indicated that deletion of these genes in MRSA USA500 leads to persister defect. These findings provide novel insights into the mechanisms of persister formation and survival in S. aureus and offer new targets for the development of persister-directed antibiotics for the improved treatment of chronic and persistent infections.

The Persistence of Long Work Hours

OpenAIRE

Robert Drago; David Black; Mark Wooden

2005-01-01

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

The Persistence of Profits in Azerbaijan's Banking System

Directory of Open Access Journals (Sweden)

K. Batu TUNAY

2015-06-01

Full Text Available In this research, the persistence of profits in Azerbaijan's banking sector in the short-run and the long-run is investigated. Although there are a lot of researches done in the case of different countries, enough study has been implemented for the case of Azerbaijan despite of its high speed economic growth. This research analysis continuity of profits by using system panel data method. Obtained results indicate that profits demonstrate no persistence or a little persistence. In this context, existence of competitive powers in the sector can be stated.

Nutrient transitions are a source of persisters in Escherichia coli biofilms.

Directory of Open Access Journals (Sweden)

Stephanie M Amato

Full Text Available Chronic and recurrent infections have been attributed to persisters in biofilms, and despite this importance, the mechanisms of persister formation in biofilms remain unclear. The plethora of biofilm characteristics that could give rise to persisters, including slower growth, quorum signaling, oxidative stress, and nutrient heterogeneity, have complicated efforts to delineate formation pathways that generate persisters during biofilm development. Here we sought to specifically determine whether nutrient transitions, which are a common metabolic stress encountered within surface-attached communities, stimulate persister formation in biofilms and if so, to then identify the pathway. To accomplish this, we established an experimental methodology where nutrient availability to biofilm cells could be controlled exogenously, and then used that method to discover that diauxic carbon source transitions stimulated persister formation in Escherichia coli biofilms. Previously, we found that carbon source transitions stimulate persister formation in planktonic E. coli cultures, through a pathway that involved ppGpp and nucleoid-associated proteins, and therefore, tested the functionality of that pathway in biofilms. Biofilm persister formation was also found to be dependent on ppGpp and nucleoid-associated proteins, but the importance of specific proteins and enzymes between biofilm and planktonic lifestyles was significantly different. Data presented here support the increasingly appreciated role of ppGpp as a central mediator of bacterial persistence and demonstrate that nutrient transitions can be a source of persisters in biofilms.

Nutrient transitions are a source of persisters in Escherichia coli biofilms.

Science.gov (United States)

Amato, Stephanie M; Brynildsen, Mark P

2014-01-01

Chronic and recurrent infections have been attributed to persisters in biofilms, and despite this importance, the mechanisms of persister formation in biofilms remain unclear. The plethora of biofilm characteristics that could give rise to persisters, including slower growth, quorum signaling, oxidative stress, and nutrient heterogeneity, have complicated efforts to delineate formation pathways that generate persisters during biofilm development. Here we sought to specifically determine whether nutrient transitions, which are a common metabolic stress encountered within surface-attached communities, stimulate persister formation in biofilms and if so, to then identify the pathway. To accomplish this, we established an experimental methodology where nutrient availability to biofilm cells could be controlled exogenously, and then used that method to discover that diauxic carbon source transitions stimulated persister formation in Escherichia coli biofilms. Previously, we found that carbon source transitions stimulate persister formation in planktonic E. coli cultures, through a pathway that involved ppGpp and nucleoid-associated proteins, and therefore, tested the functionality of that pathway in biofilms. Biofilm persister formation was also found to be dependent on ppGpp and nucleoid-associated proteins, but the importance of specific proteins and enzymes between biofilm and planktonic lifestyles was significantly different. Data presented here support the increasingly appreciated role of ppGpp as a central mediator of bacterial persistence and demonstrate that nutrient transitions can be a source of persisters in biofilms.

Persistent genital arousal disorder

DEFF Research Database (Denmark)

Eibye, Simone; Jensen, Hans Mørch

2014-01-01

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

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

Science.gov (United States)

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

2003-08-15

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

On the causes of persistent apical periodontitis: a review.

Science.gov (United States)

Nair, P N R

2006-04-01

Apical periodontitis is a chronic inflammatory disorder of periradicular tissues caused by aetiological agents of endodontic origin. Persistent apical periodontitis occurs when root canal treatment of apical periodontitis has not adequately eliminated intraradicular infection. Problems that lead to persistent apical periodontitis include: inadequate aseptic control, poor access cavity design, missed canals, inadequate instrumentation, debridement and leaking temporary or permanent restorations. Even when the most stringent procedures are followed, apical periodontitis may still persist as asymptomatic radiolucencies, because of the complexity of the root canal system formed by the main and accessory canals, their ramifications and anastomoses where residual infection can persist. Further, there are extraradicular factors -- located within the inflamed periapical tissue -- that can interfere with post-treatment healing of apical periodontitis. The causes of apical periodontitis persisting after root canal treatment have not been well characterized. During the 1990s, a series of investigations have shown that there are six biological factors that lead to asymptomatic radiolucencies persisting after root canal treatment. These are: (i) intraradicular infection persisting in the complex apical root canal system; (ii) extraradicular infection, generally in the form of periapical actinomycosis; (iii) extruded root canal filling or other exogenous materials that cause a foreign body reaction; (iv) accumulation of endogenous cholesterol crystals that irritate periapical tissues; (v) true cystic lesions, and (vi) scar tissue healing of the lesion. This article provides a comprehensive overview of the causative factors of non-resolving periapical lesions that are seen as asymptomatic radiolucencies post-treatment.

Modeling Real Exchange Rate Persistence in Chile

Directory of Open Access Journals (Sweden)

Leonardo Salazar

2017-07-01

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

Inflation persistence in African countries: Does inflation targeting matter?

OpenAIRE

Phiri, Andrew

2016-01-01

This study investigates inflation persistence in annual CPI inflation collected between 1994 and 2014 for 46 African countries. We group these countries into panels according to whether they are inflation targeters or not and conduct estimations for pre and post inflation targeting periods. Interestingly enough, we find that inflation persistence was much higher for inflation targeters in periods before adopting their inflation targeting regimes and inflation persistence dropped by 40 percent...

Salt stress-induced transcription of σB- and CtsR-regulated genes in persistent and non-persistent Listeria monocytogenes strains from food processing plants.

Science.gov (United States)

Ringus, Daina L; Ivy, Reid A; Wiedmann, Martin; Boor, Kathryn J

2012-03-01

Listeria monocytogenes is a foodborne pathogen that can persist in food processing environments. Six persistent and six non-persistent strains from fish processing plants and one persistent strain from a meat plant were selected to determine if expression of genes in the regulons of two stress response regulators, σ(B) and CtsR, under salt stress conditions is associated with the ability of L. monocytogenes to persist in food processing environments. Subtype data were also used to categorize the strains into genetic lineages I or II. Quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) was used to measure transcript levels for two σ(B)-regulated genes, inlA and gadD3, and two CtsR-regulated genes, lmo1138 and clpB, before and after (t=10 min) salt shock (i.e., exposure of exponential phase cells to BHI+6% NaCl for 10 min at 37°C). Exposure to salt stress induced higher transcript levels relative to levels under non-stress conditions for all four stress and virulence genes across all wildtype strains tested. Analysis of variance (ANOVA) of induction data revealed that transcript levels for one gene (clpB) were induced at significantly higher levels in non-persistent strains compared to persistent strains (p=0.020; two-way ANOVA). Significantly higher transcript levels of gadD3 (p=0.024; two-way ANOVA) and clpB (p=0.053; two-way ANOVA) were observed after salt shock in lineage I strains compared to lineage II strains. No clear association between stress gene transcript levels and persistence was detected. Our data are consistent with an emerging model that proposes that establishment of L. monocytogenes persistence in a specific environment occurs as a random, stochastic event, rather than as a consequence of specific bacterial strain characteristics.

Is corruption really persistent?

NARCIS (Netherlands)

Seldadyo, H.; de Haan, J.

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

DMBT1 expression is down-regulated in breast cancer

DEFF Research Database (Denmark)

Braidotti, P; Nuciforo, P G; Mollenhauer, J

2004-01-01

and hyperplastic mammary cells positive with DMBTh12 were also MCM5-positive. CONCLUSIONS: The redistribution and up-regulation of DMBT1 in normal and hyperplastic tissues flanking malignant tumours and its down-regulation in carcinomas suggests a potential role in breast cancer. Moreover, the concomitant......BACKGROUND: We studied the expression of DMBT1 (deleted in malignant brain tumor 1), a putative tumor suppressor gene, in normal, proliferative, and malignant breast epithelium and its possible relation to cell cycle. METHODS: Sections from 17 benign lesions and 55 carcinomas were immunostained...... expression was down-regulated in the cancerous lesions compared to the normal and/or hyperplastic epithelium adjacent to carcinomas (3/55 positive carcinomas versus 33/42 positive normal/hyperplastic epithelia; p = 0.0001). In 72% of cases RT-PCR confirmed immunohistochemical results. Most of normal...

Persistence of environmental DNA in freshwater ecosystems.

Directory of Open Access Journals (Sweden)

Tony Dejean

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

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.

Search along persistent random walks

International Nuclear Information System (INIS)

Friedrich, Benjamin M

2008-01-01

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

The Enigmatic Persistence of Anorexia Nervosa

Science.gov (United States)

Walsh, B. Timothy

2014-01-01

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

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.

Reflections on Student Persistence

Directory of Open Access Journals (Sweden)

Vincent Tinto

2017-07-01

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

Entropy measurements in paroxysmal and persistent atrial fibrillation

International Nuclear Information System (INIS)

Cervigón, R; Moreno, J; Pérez-Villacastín, J; Reilly, R B; Millet, J; Castells, F

2010-01-01

Recent studies on atrial fibrillation (AF) have identified different activation patterns in paroxysmal and persistent AF. In this study, bipolar intra-atrial registers from 28 patients (14 paroxysmal AF and 14 persistent AF) were analyzed in order to find out regional differences in the organization in both types of arrhythmias. The organization of atrial electrical activity was assessed in terms of nonlinear parameters, such as entropy measurements. Results showed differences between the atrial chambers with a higher disorganization in the left atrium in paroxysmal AF patients and a more homogenous behavior along the atria in persistent AF patients

Multiresolution persistent homology for excessively large biomolecular datasets

Energy Technology Data Exchange (ETDEWEB)

Xia, Kelin; Zhao, Zhixiong [Department of Mathematics, Michigan State University, East Lansing, Michigan 48824 (United States); Wei, Guo-Wei, E-mail: wei@math.msu.edu [Department of Mathematics, Michigan State University, East Lansing, Michigan 48824 (United States); Department of Electrical and Computer Engineering, Michigan State University, East Lansing, Michigan 48824 (United States); Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, Michigan 48824 (United States)

2015-10-07

Although persistent homology has emerged as a promising tool for the topological simplification of complex data, it is computationally intractable for large datasets. We introduce multiresolution persistent homology to handle excessively large datasets. We match the resolution with the scale of interest so as to represent large scale datasets with appropriate resolution. We utilize flexibility-rigidity index to access the topological connectivity of the data set and define a rigidity density for the filtration analysis. By appropriately tuning the resolution of the rigidity density, we are able to focus the topological lens on the scale of interest. The proposed multiresolution topological analysis is validated by a hexagonal fractal image which has three distinct scales. We further demonstrate the proposed method for extracting topological fingerprints from DNA molecules. In particular, the topological persistence of a virus capsid with 273 780 atoms is successfully analyzed which would otherwise be inaccessible to the normal point cloud method and unreliable by using coarse-grained multiscale persistent homology. The proposed method has also been successfully applied to the protein domain classification, which is the first time that persistent homology is used for practical protein domain analysis, to our knowledge. The proposed multiresolution topological method has potential applications in arbitrary data sets, such as social networks, biological networks, and graphs.

Hyperthyroidism as a cause of persistent vomiting.

Science.gov (United States)

Hoogendoorn, E H; Cools, B M

2004-09-01

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

Hyperthyroidism as a cause of persistent vomiting.

OpenAIRE

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

2004-01-01

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

Multiscale Persistent Functions for Biomolecular Structure Characterization

Energy Technology Data Exchange (ETDEWEB)

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

2017-11-02

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

The Economy of Persistence: Mario the Tailor

Directory of Open Access Journals (Sweden)

Prudence Black

2016-03-01

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

Cortical dynamics of feature binding and reset: control of visual persistence.

Science.gov (United States)

Francis, G; Grossberg, S; Mingolla, E

1994-04-01

An analysis of the reset of visual cortical circuits responsible for the binding or segmentation of visual features into coherent visual forms yields a model that explains properties of visual persistence. The reset mechanisms prevent massive smearing of visual percepts in response to rapidly moving images. The model simulates relationships among psychophysical data showing inverse relations of persistence to flash luminance and duration, greater persistence of illusory contours than real contours, a U-shaped temporal function for persistence of illusory contours, a reduction of persistence due to adaptation with a stimulus of like orientation, an increase of persistence with spatial separation of a masking stimulus. The model suggests that a combination of habituative, opponent, and endstopping mechanisms prevent smearing and limit persistence. Earlier work with the model has analyzed data about boundary formation, texture segregation, shape-from-shading, and figure-ground separation. Thus, several types of data support each model mechanism and new predictions are made.

Persistent puhnonary hypertension ofthe neonate in a developing ...

African Journals Online (AJOL)

'PFC syndrome (persistence ofthe feral circulation). Circulation 1969; 40: Ill. 2. Fox WW, Duara S. Persistent pulmonary hypertension in the neonate: diagnosis and management. J Pediatr 1983; 103: 505-. 508. 3. Dworetz AR, Moya FR, Sabo B, Gladstone I, Gross 1. Survival of infants with persisteot pulmonary hypertension ...

Persistence and vulnerability: retaining biodiversity in the landscape ...

Indian Academy of Sciences (India)

Unknown

An objective of biodiversity conservation activities is to minimize the exposure of biodiversity features to threatening processes and to ensure, as far as possible, that biodiversity persists in the landscape. We discuss how issues of vulnerability and persistence can and should be addressed at all stages of the conservation.

Supporting Academic Persistence in Low-Skilled Adult Learners

Science.gov (United States)

O'Neill, Susan; Thomson, Margareta Maria

2013-01-01

The current literature review explores the factors that contribute to academic persistence for adult learners. The aim of the study is to identify current research-based strategies aimed at supporting learner persistence, particularly for low-skilled adults. Elements of three theoretical frameworks, namely, expectancy-value theory (EVT), goal…

Coral reef fish populations can persist without immigration

KAUST Repository

Salles, Océane C.

2015-11-18

Determining the conditions under which populations may persist requires accurate estimates of demographic parameters, including immigration, local reproductive success, and mortality rates. In marine populations, empirical estimates of these parameters are rare, due at least in part to the pelagic dispersal stage common to most marine organisms. Here, we evaluate population persistence and turnover for a population of orange clownfish, Amphiprion percula, at Kimbe Island in Papua New Guinea. All fish in the population were sampled and genotyped on five occasions at 2-year intervals spanning eight years. The genetic data enabled estimates of reproductive success retained in the same population (reproductive success to self-recruitment), reproductive success exported to other subpopulations (reproductive success to local connectivity), and immigration and mortality rates of sub-adults and adults. Approximately 50% of the recruits were assigned to parents from the Kimbe Island population and this was stable through the sampling period. Stability in the proportion of local and immigrant settlers is likely due to: low annual mortality rates and stable egg production rates, and the short larval stages and sensory capacities of reef fish larvae. Biannual mortality rates ranged from 0.09 to 0.55 and varied significantly spatially. We used these data to parametrize a model that estimated the probability of the Kimbe Island population persisting in the absence of immigration. The Kimbe Island population was found to persist without significant immigration. Model results suggest the island population persists because the largest of the subpopulations are maintained due to having low mortality and high self-recruitment rates. Our results enable managers to appropriately target and scale actions to maximize persistence likelihood as disturbance frequencies increase.

Neural processes underlying cultural differences in cognitive persistence.

Science.gov (United States)

Telzer, Eva H; Qu, Yang; Lin, Lynda C

2017-08-01

Self-improvement motivation, which occurs when individuals seek to improve upon their competence by gaining new knowledge and improving upon their skills, is critical for cognitive, social, and educational adjustment. While many studies have delineated the neural mechanisms supporting extrinsic motivation induced by monetary rewards, less work has examined the neural processes that support intrinsically motivated behaviors, such as self-improvement motivation. Because cultural groups traditionally vary in terms of their self-improvement motivation, we examined cultural differences in the behavioral and neural processes underlying motivated behaviors during cognitive persistence in the absence of extrinsic rewards. In Study 1, 71 American (47 females, M=19.68 years) and 68 Chinese (38 females, M=19.37 years) students completed a behavioral cognitive control task that required cognitive persistence across time. In Study 2, 14 American and 15 Chinese students completed the same cognitive persistence task during an fMRI scan. Across both studies, American students showed significant declines in cognitive performance across time, whereas Chinese participants demonstrated effective cognitive persistence. These behavioral effects were explained by cultural differences in self-improvement motivation and paralleled by increasing activation and functional coupling between the inferior frontal gyrus (IFG) and ventral striatum (VS) across the task among Chinese participants, neural activation and coupling that remained low in American participants. These findings suggest a potential neural mechanism by which the VS and IFG work in concert to promote cognitive persistence in the absence of extrinsic rewards. Thus, frontostriatal circuitry may be a neurobiological signal representing intrinsic motivation for self-improvement that serves an adaptive function, increasing Chinese students' motivation to engage in cognitive persistence. Copyright © 2017 Elsevier Inc. All rights

Demonstration of persistent contamination of a cooked egg product production facility with Salmonella enterica serovar Tennessee and characterization of the persistent strain.

Science.gov (United States)

Jakočiūnė, D; Bisgaard, M; Pedersen, K; Olsen, J E

2014-08-01

The aim of this study was to investigate whether continuous contamination of light pasteurized egg products with Salmonella enterica serovar Tennessee (S. Tennessee) at a large European producer of industrial egg products was caused by persistent contamination of the production facility and to characterize the persistent strains. Seventy-three S. Tennessee isolates collected from products over a 3-year period with intermittent contamination, and 15 control strains were compared by pulsed field gel electrophoresis (PFGE) using two enzymes. Forty-five case isolates distributed throughout the full period were shown to belong to one profile type. Isolates representing different PFGE profiles were all assigned to ST 319 by multilocus sequence typing (MLST). The case isolates did not show a higher ability to form biofilm on a plastic surface than noncase isolates. Characteristically, members of the persistent clone were weak producers of H2 S in laboratory medium. S. Tennessee isolated from the case was able to grow better in pasteurized egg product compared with other serovars investigated. It was concluded that the contamination was caused by a persistent strain in the production facility and that this strain apparently had adapted to grow in the relevant egg product. S. Tennessee has previously been associated with persistence in hatching facilities. This is the first report of persistent contamination of an egg production facility with this serovar. © 2014 The Society for Applied Microbiology.

Lactase Non-persistence and Lactose Intolerance.

Science.gov (United States)

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

2017-05-01

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

Persistent physical symptoms as perceptual dysregulation

DEFF Research Database (Denmark)

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

2018-01-01

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

Adolescents' experience of complex persistent pain.

Science.gov (United States)

Sørensen, Kari; Christiansen, Bjørg

2017-04-01

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

Prevalence of Persistent Proteinuria using Urine Protein/Creatinine ...

African Journals Online (AJOL)

Age and social class did not contribute significantly to having persistent proteinuria. Conclusion: The prevalence of persistent proteinuria in these asymptomatic children using UPC ratio was almost similar to the repeat urinalysis done after two weeks. It is hereby recommended that where UPC ratio is not available a positive ...

Persistence and extinction for a stochastic logistic model with infinite delay

OpenAIRE

Chun Lu; Xiaohua Ding

2013-01-01

This article, studies a stochastic logistic model with infinite delay. Using a phase space, we establish sufficient conditions for the extinction, nonpersistence in the mean, weak persistence, and stochastic permanence. A threshold between weak persistence and extinction is obtained. Our results state that different types of environmental noises have different effects on the persistence and extinction, and that the delay has no impact on the persistence and ext...

DMBT1 expression is down-regulated in breast cancer

International Nuclear Information System (INIS)

Braidotti, P; Pietra, GG; Nuciforo, PG; Mollenhauer, J; Poustka, A; Pellegrini, C; Moro, A; Bulfamante, G; Coggi, G; Bosari, S

2004-01-01

We studied the expression of DMBT1 (deleted in malignant brain tumor 1), a putative tumor suppressor gene, in normal, proliferative, and malignant breast epithelium and its possible relation to cell cycle. Sections from 17 benign lesions and 55 carcinomas were immunostained with anti DMBT1 antibody (DMBTh12) and sections from 36 samples, were double-stained also with anti MCM5, one of the 6 pre-replicative complex proteins with cell proliferation-licensing functions. DMBT1 gene expression at mRNA level was assessed by RT-PCR in frozen tissues samples from 39 patients. Normal glands and hyperplastic epithelium in benign lesions displayed a luminal polarized DMBTh12 immunoreactivity. Normal and hyperplastic epithelium adjacent to carcinomas showed a loss of polarization, with immunostaining present in basal and perinuclear cytoplasmic compartments. DMBT1 protein expression was down-regulated in the cancerous lesions compared to the normal and/or hyperplastic epithelium adjacent to carcinomas (3/55 positive carcinomas versus 33/42 positive normal/hyperplastic epithelia; p = 0.0001). In 72% of cases RT-PCR confirmed immunohistochemical results. Most of normal and hyperplastic mammary cells positive with DMBTh12 were also MCM5-positive. The redistribution and up-regulation of DMBT1 in normal and hyperplastic tissues flanking malignant tumours and its down-regulation in carcinomas suggests a potential role in breast cancer. Moreover, the concomitant expression of DMTB1 and MCM5 suggests its possible association with the cell-cycle regulation

Trends in prescribing and persistence with antihypertensive therapy: results of the study PAPEETE (Population-based Analysis of Persistence and Economics of treatment with telmisartan study

Directory of Open Access Journals (Sweden)

Francesco Vittorio Costa

2009-12-01

Full Text Available This paper summarizes the results of the PAPEETE study (Population-based Analysis of PErsistence with treatment and Economics of TElmisartan that assessed trends in prescriptions, determinants and timing of treatment discontinuation and/or changes in antihypertensive drug therapy in a cohort of hypertensive patients living in Pavia. In the study were included all new users 18 years old or over receiving a first prescription for diuretics, beta-blockers, calcium channel-blockers, ACE inhibitors (ACEi or angiotensin receptor blockers (ARBs between 1 January 2003 and 31 December 2006. The follow-up period for each patient was 12 months starting from enrolment date. Based in the presence of continuous therapy, patients were defined as persistent and non-persistent users. A total of 61,493 patients was included in the study of whom 11.2% were persistent. Persistence with the treatment seems to be associated with patient-related factors and with the class of anti-hypertensive drug initially prescribed with the lowest persistence to antihypertensive treatment with diuretics (3.0% and the highest with ARBs (18.8%.

Toward Rechargeable Persistent Luminescence for the First and Third Biological Windows via Persistent Energy Transfer and Electron Trap Redistribution.

Science.gov (United States)

Xu, Jian; Murata, Daisuke; Ueda, Jumpei; Viana, Bruno; Tanabe, Setsuhisa

2018-05-07

Persistent luminescence (PersL) imaging without real-time external excitation has been regarded as the next generation of autofluorescence-free optical imaging technology. However, to achieve improved imaging resolution and deep tissue penetration, developing new near-infrared (NIR) persistent phosphors with intense and long duration PersL over 1000 nm is still a challenging but urgent task in this field. Herein, making use of the persistent energy transfer process from Cr 3+ to Er 3+ , we report a novel garnet persistent phosphor of Y 3 Al 2 Ga 3 O 12 codoped with Er 3+ and Cr 3+ (YAG G:Er-Cr), which shows intense Cr 3+ PersL (∼690 nm) in the deep red region matching well with the first biological window (NIR-I, 650-950 nm) and Er 3+ PersL (∼1532 nm) in the NIR region matching well with the third biological window (NIR-III, 1500-1800 nm). The optical imaging through raw-pork tissues (thickness of 1 cm) suggests that the emission band of Er 3+ can achieve higher spatial resolution and more accurate signal location than that of Cr 3+ due to the reduced light scattering at longer wavelengths. Furthermore, by utilizing two independent electron traps with two different trap depths in YAG G:Er-Cr, the Cr 3+ /Er 3+ PersL can even be recharged in situ by photostimulation with 660 nm LED thanks to the redistribution of trapped electrons from the deep trap to the shallow one. Our results serve as a guide in developing promising NIR (>1000 nm) persistent phosphors for long-term optical imaging.

Persistence extends reciprocity.

Science.gov (United States)

Kurokawa, Shun

2017-04-01

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

Persistency of milk yield in Indonesian Holstein cows

Science.gov (United States)

Widyas, N.; Putra, F. Y.; Nugroho, T.; Pramono, A.; Susilowati, A.; Sutarno; Prastowo, S.

2018-03-01

Milk yield is an important trait in dairy industry; thus, information regarding this phenotype is essential to measure the productivity of a farm. Total milk yield in one lactation period was often predicted using information from samples collected within certain time intervals. The rate of change of milk production between two-time intervals is defined as persistency. This article aims to estimate the persistency of milk yield between lactation 1, 2 and 3 in Indonesian Friesian Holstein (IFH) cows. Data was collected from Limpakuwus stable, Baturraden Dairy Cattle Breeding Centre, Central Java Indonesia. Records were obtained from cows which started lactating on 2013 until the end of third lactation around the beginning of 2016. Milk yield from the first (L1), second (L2) and third (L3) lactations of 21 cows were recorded in kilograms. Samples were collected in 30 days basis interval started from the 10th day of lactation up to the 10th month. In this population, the cows first calving was around February – April 2013; while the second and third calving occurred all over the relevant year. The mean of milk yield for L1, L2 and L3 were 17.77±3.70, 16.09±5.17 and 13.73±4.02 Kg respectively. The peak of milk yields was achieved at the second month of the lactation for L1, L2 and L3. The persistency from the second to the tenth test days were 97, 93 and 94% for L1, L2 and L3, respectively. Milk yield persistency is representing ability of cow in maintain milk production after peak during lactation period. The more persistent shows better performance of dairy cattle as well as farm management. For that, persistency value could be used as valuable information in evaluating the management in Indonesian dairy farms.

Connectivity, cycles, and persistence thresholds in metapopulation networks.

Directory of Open Access Journals (Sweden)

Yael Artzy-Randrup

2010-08-01

Full Text Available Synthesising the relationships between complexity, connectivity, and the stability of large biological systems has been a longstanding fundamental quest in theoretical biology and ecology. With the many exciting developments in modern network theory, interest in these issues has recently come to the forefront in a range of multidisciplinary areas. Here we outline a new theoretical analysis specifically relevant for the study of ecological metapopulations focusing primarily on marine systems, where subpopulations are generally connected via larval dispersal. Our work determines the qualitative and quantitative conditions by which dispersal and network structure control the persistence of a set of age-structured patch populations. Mathematical modelling combined with a graph theoretic analysis demonstrates that persistence depends crucially on the topology of cycles in the dispersal network which tend to enhance the effect of larvae "returning home." Our method clarifies the impact directly due to network structure, but this almost by definition can only be achieved by examining the simplified case in which patches are identical; an assumption that we later relax. The methodology identifies critical migration routes, whose presence are vital to overall stability, and therefore should have high conservation priority. In contrast, "lonely links," or links in the network that do not participate in a cyclical component, have no impact on persistence and thus have low conservation priority. A number of other intriguing criteria for persistence are derived. Our modelling framework reveals new insights regarding the determinants of persistence, stability, and thresholds in complex metapopulations. In particular, while theoretical arguments have, in the past, suggested that increasing connectivity is a destabilizing feature in complex systems, this is not evident in metapopulation networks where connectivity, cycles, coherency, and heterogeneity all tend

Immunological aspects of persistent hepatitis B in children

Directory of Open Access Journals (Sweden)

Harsoyo Notoatmojo

2006-08-01

Full Text Available We studied the immunological status of 203 children having persistence Hepatitis B (positive HBsAg ranging in age from 6 to 14 years in Semarang Municipality. The results of humoral immunity examination (IgM Anti-HBc showed that all were negative, indicating that they are not in acute phase of hepatitis B infection. Cellular immunity examination, i.e., CMI skin test has shown positive result in 64.9% on persistent and 65.2% in non persistent hepatitis B (p>0.05. T cell examination showed statistically significant difference (p<0.01 between persistenct and non persistent hepatitis B patients, there was is also significant difference (p<0.01 on CD4 cell examination. These findings indicated that there was difference in immunoregulation function and response repression of antivirus between both groups of patients. On the other hand CD4/ CD8 ratio and T cell function showed no significant difference between the two gorups of patients; similarly the specific function of cytotoxic T cell was not significantly difference.

Immune Evasion Strategies and Persistence of Helicobacter pylori.

Science.gov (United States)

Mejías-Luque, Raquel; Gerhard, Markus

Helicobacter pylori infection is commonly acquired during childhood, can persist lifelong if not treated, and can cause different gastric pathologies, including chronic gastritis, peptic ulcer disease, and eventually gastric cancer. H. pylori has developed a number of strategies in order to cope with the hostile conditions found in the human stomach as well as successful mechanisms to evade the strong innate and adaptive immune responses elicited upon infection. Thus, by manipulating innate immune receptors and related signaling pathways, inducing tolerogenic dendritic cells and inhibiting effector T cell responses, H. pylori ensures low recognition by the host immune system as well as its persistence in the gastric epithelium. Bacterial virulence factors such as cytotoxin-associated gene A, vacuolating cytotoxin A, or gamma-glutamyltranspeptidase have been extensively studied in the context of bacterial immune escape and persistence. Further, the bacterium possesses other factors that contribute to immune evasion. In this chapter, we discuss in detail the main evasion and persistence strategies evolved by the bacterium as well as the specific bacterial virulence factors involved.

PAQ: Persistent Adaptive Query Middleware for Dynamic Environments

Science.gov (United States)

Rajamani, Vasanth; Julien, Christine; Payton, Jamie; Roman, Gruia-Catalin

Pervasive computing applications often entail continuous monitoring tasks, issuing persistent queries that return continuously updated views of the operational environment. We present PAQ, a middleware that supports applications' needs by approximating a persistent query as a sequence of one-time queries. PAQ introduces an integration strategy abstraction that allows composition of one-time query responses into streams representing sophisticated spatio-temporal phenomena of interest. A distinguishing feature of our middleware is the realization that the suitability of a persistent query's result is a function of the application's tolerance for accuracy weighed against the associated overhead costs. In PAQ, programmers can specify an inquiry strategy that dictates how information is gathered. Since network dynamics impact the suitability of a particular inquiry strategy, PAQ associates an introspection strategy with a persistent query, that evaluates the quality of the query's results. The result of introspection can trigger application-defined adaptation strategies that alter the nature of the query. PAQ's simple API makes developing adaptive querying systems easily realizable. We present the key abstractions, describe their implementations, and demonstrate the middleware's usefulness through application examples and evaluation.

Persister formation in Staphylococcus aureus is associated with ATP depletion

Energy Technology Data Exchange (ETDEWEB)

Conlon, Brian P.; Rowe, Sarah E.; Gandt, Autumn Brown; Nuxoll, Austin S.; Donegan, Niles P.; Zalis, Eliza A.; Clair, Geremy; Adkins, Joshua N.; Cheung, Ambrose L.; Lewis, Kim

2016-04-18

Persisters are dormant phenotypic variants of bacterial cells that are tolerant to killing by antibiotics1. Persisters are associated with chronic bacterial infection and antibiotic treatment failure. In Escherichia coli, toxin/antitoxin (TA) modules are responsible for persister formation. The mechanism of persister formation in Gram positive bacteria is unknown. Staphylococcus aureus is a major human pathogen, responsible for a variety of chronic and relapsing infections such as osteomyelitis, endocarditis and infections of implanted devices. Deleting TA modules in S. aureus did not affect the level of persisters. Here we show that S. aureus persisters are produced due to a stochastic entrance to stationary phase accompanied by a drop in intracellular ATP. Cells expressing stationary state markers are present throughout the growth phase, increasing in frequency with cell density. Cell sorting revealed that expression of stationary markers was associated with a 100-1000 fold increased likelihood of survival to antibiotic challenge. We find that the antibiotic tolerance of these cells is due to a drop in intracellular ATP. The ATP level of the cell is predictive of bactericidal antibiotic efficacy and explains bacterial tolerance to antibiotic treatment.

Persistent increased PKMζ in long-term and remote spatial memory.

Science.gov (United States)

Hsieh, Changchi; Tsokas, Panayiotis; Serrano, Peter; Hernández, A Iván; Tian, Dezhi; Cottrell, James E; Shouval, Harel Z; Fenton, André Antonio; Sacktor, Todd Charlton

2017-02-01

PKMζ is an autonomously active PKC isoform that is thought to maintain both LTP and long-term memory. Whereas persistent increases in PKMζ protein sustain the kinase's action in LTP, the molecular mechanism for the persistent action of PKMζ during long-term memory has not been characterized. PKMζ inhibitors disrupt spatial memory when introduced into the dorsal hippocampus from 1day to 1month after training. Therefore, if the mechanisms of PKMζ's persistent action in LTP maintenance and long-term memory were similar, persistent increases in PKMζ would last for the duration of the memory, far longer than most other learning-induced gene products. Here we find that spatial conditioning by aversive active place avoidance or appetitive radial arm maze induces PKMζ increases in dorsal hippocampus that persist from 1day to 1month, coinciding with the strength and duration of memory retention. Suppressing the increase by intrahippocampal injections of PKMζ-antisense oligodeoxynucleotides prevents the formation of long-term memory. Thus, similar to LTP maintenance, the persistent increase in the amount of autonomously active PKMζ sustains the kinase's action during long-term and remote spatial memory maintenance. Copyright © 2016. Published by Elsevier Inc.

Persistent spin helices in 2D electron systems

Science.gov (United States)

Kozulin, A. S.; Malyshev, A. I.; Konakov, A. A.

2017-03-01

We present a theoretical investigation of persistent spin helices in two-dimensional electron systems with spin-orbit coupling. For this purpose, we consider a single-particle effective mass Hamiltonian with a generalized linear-in- k spin-orbit coupling term corresponding to a quantum well grown in an arbitrary crystallographic direction, and derive the general condition for the formation of the persistent spin helix. This condition applied for the Hamiltonians describing quantum wells with different growth directions indicates the possibility of existence of the persistent spin helix in a wide class of 2D systems apart from the [001] model with equal Rashba and Dresselhaus spin-orbit coupling strengths and the [110] Dresselhaus model.

Persistent Model #2

DEFF Research Database (Denmark)

2013-01-01

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

Persistent fluctuations in stride intervals under fractal auditory stimulation.

Science.gov (United States)

Marmelat, Vivien; Torre, Kjerstin; Beek, Peter J; Daffertshofer, Andreas

2014-01-01

Stride sequences of healthy gait are characterized by persistent long-range correlations, which become anti-persistent in the presence of an isochronous metronome. The latter phenomenon is of particular interest because auditory cueing is generally considered to reduce stride variability and may hence be beneficial for stabilizing gait. Complex systems tend to match their correlation structure when synchronizing. In gait training, can one capitalize on this tendency by using a fractal metronome rather than an isochronous one? We examined whether auditory cues with fractal variations in inter-beat intervals yield similar fractal inter-stride interval variability as isochronous auditory cueing in two complementary experiments. In Experiment 1, participants walked on a treadmill while being paced by either an isochronous or a fractal metronome with different variation strengths between beats in order to test whether participants managed to synchronize with a fractal metronome and to determine the necessary amount of variability for participants to switch from anti-persistent to persistent inter-stride intervals. Participants did synchronize with the metronome despite its fractal randomness. The corresponding coefficient of variation of inter-beat intervals was fixed in Experiment 2, in which participants walked on a treadmill while being paced by non-isochronous metronomes with different scaling exponents. As expected, inter-stride intervals showed persistent correlations similar to self-paced walking only when cueing contained persistent correlations. Our results open up a new window to optimize rhythmic auditory cueing for gait stabilization by integrating fractal fluctuations in the inter-beat intervals.

Persisting nutritional neuropathy amongst former war prisoners.

OpenAIRE

Gill, G V; Bell, D R

1982-01-01

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

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

African Journals Online (AJOL)

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

Ratio-based estimators for a change point in persistence.

Science.gov (United States)

Halunga, Andreea G; Osborn, Denise R

2012-11-01

We study estimation of the date of change in persistence, from [Formula: see text] to [Formula: see text] or vice versa. Contrary to statements in the original papers, our analytical results establish that the ratio-based break point estimators of Kim [Kim, J.Y., 2000. Detection of change in persistence of a linear time series. Journal of Econometrics 95, 97-116], Kim et al. [Kim, J.Y., Belaire-Franch, J., Badillo Amador, R., 2002. Corringendum to "Detection of change in persistence of a linear time series". Journal of Econometrics 109, 389-392] and Busetti and Taylor [Busetti, F., Taylor, A.M.R., 2004. Tests of stationarity against a change in persistence. Journal of Econometrics 123, 33-66] are inconsistent when a mean (or other deterministic component) is estimated for the process. In such cases, the estimators converge to random variables with upper bound given by the true break date when persistence changes from [Formula: see text] to [Formula: see text]. A Monte Carlo study confirms the large sample downward bias and also finds substantial biases in moderate sized samples, partly due to properties at the end points of the search interval.

Persistence drives gene clustering in bacterial genomes

Directory of Open Access Journals (Sweden)

Rocha Eduardo PC

2008-01-01

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

Real exchange rate persistence and the excess return puzzle

DEFF Research Database (Denmark)

Juselius, Katarina; Assenmacher, Katrin

2017-01-01

The PPP puzzle refers to the wide swings of nominal exchange rates around their long-run equilibrium values whereas the excess return puzzle represents the persistent deviation of the domestic-foreign interest rate differential from the expected change in the nominal exchange rate. Using the I(2......) cointegrated VAR model, much of the excess return puzzle disappears when an uncertainty premium in the foreign exchange market, proxied by the persistent PPP gap, is introduced. Self-reinforcing feedback mechanisms seem to cause the persistence in the Swiss-US parity conditions. These results support imperfect...

Postnatal persistent infection with classical Swine Fever virus and its immunological implications.

Directory of Open Access Journals (Sweden)

Sara Muñoz-González

Full Text Available It is well established that trans-placental transmission of classical swine fever virus (CSFV during mid-gestation can lead to persistently infected offspring. The aim of the present study was to evaluate the ability of CSFV to induce viral persistence upon early postnatal infection. Two litters of 10 piglets each were infected intranasally on the day of birth with low and moderate virulence CSFV isolates, respectively. During six weeks after postnatal infection, most of the piglets remained clinically healthy, despite persistent high virus titres in the serum. Importantly, these animals were unable to mount any detectable humoral and cellular immune response. At necropsy, the most prominent gross pathological lesion was a severe thymus atrophy. Four weeks after infection, PBMCs from the persistently infected seronegative piglets were unresponsive to both, specific CSFV and non-specific PHA stimulation in terms of IFN-γ-producing cells. These results suggested the development of a state of immunosuppression in these postnatally persistently infected pigs. However, IL-10 was undetectable in the sera of the persistently infected animals. Interestingly, CSFV-stimulated PBMCs from the persistently infected piglets produced IL-10. Nevertheless, despite the addition of the anti-IL-10 antibody in the PBMC culture from persistently infected piglets, the response of the IFN-γ producing cells was not restored. Therefore, other factors than IL-10 may be involved in the general suppression of the T-cell responses upon CSFV and mitogen activation. Interestingly, bone marrow immature granulocytes were increased and targeted by the virus in persistently infected piglets. Taken together, we provided the first data demonstrating the feasibility of CSFV in generating a postnatal persistent disease, which has not been shown for other members of the Pestivirus genus yet. Since serological methods are routinely used in CSFV surveillance, persistently infected pigs

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

OpenAIRE

Okada, Ippei; Hamanoue, Haruka; Terada, Koji; Tohma, Takaya; Megarbane, Andre; Chouery, Eliane; Abou-Ghoch, Joelle; Jalkh, Nadine; Cogulu, Ozgur; Ozkinay, Ferda; Horie, Kyoji; Takeda, Junji; Furuichi, Tatsuya; Ikegawa, Shiro; Nishiyama, Kiyomi

2011-01-01

Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three families. Smoc1 is expressed in the developing optic stalk, ventral optic cup, and limbs of mouse em...

Transient, but not persistent, adult food insecurity influences toddler development.

Science.gov (United States)

Hernandez, Daphne C; Jacknowitz, Alison

2009-08-01

In this study, we examined characteristics associated with experiencing persistent and transitional adult food insecurity and how persistent and transitional adult food insecurity influences toddler cognitive and motor development, along with toddler's weight and health status. Using the first 2 waves of the Early Childhood Longitudinal Study-Birth Cohort, 4 mutually exclusive variables capturing persistent and transitional adult food insecurity were created to capture those adults that experience adult food insecurity in the following: both waves, in 1 wave (at 9 or 24 mo after birth), and never experience food insecurity. We used logistic regression models to estimate characteristics associated with the likelihood of experiencing persistent and transitional adult food insecurity. Ordinary least squares regression models were used to estimate how persistent and transitional adult food insecurity influences toddler development. Similar factors influenced one's likelihood of experiencing adult transitional and persistent food insecurity; individuals who experienced any food insecurity were more economically disadvantaged. Thus, outreach efforts do not need to vary by duration of food insecurity. Whereas negative effects of food insecurity on school-aged children are found in the literature, it appears toddlers are buffered from the effects of persistent adult food insecurity. Our findings suggest that toddlers residing with a temporarily food-insecure adult compared with a never food-insecure adult experienced immediate, but small, negative effects on their development. Hence, outreach and assistance may lessen immediate impacts of food insecurity on toddler development.

Information persistence using XML database technology

Science.gov (United States)

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

2005-05-01

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

Factors associated with persistent airflow limitation in severe asthma

NARCIS (Netherlands)

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

2001-01-01

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

Engineering success: Undergraduate Latina women's persistence in an undergradute engineering program

Science.gov (United States)

Rosbottom, Steven R.

The purpose and focus of this narrative inquiry case study were to explore the personal stories of four undergraduate Latina students who persist in their engineering programs. This study was guided by two overarching research questions: a) What are the lived experiences of undergraduate Latina engineering students? b) What are the contributing factors that influence undergraduate Latina students to persist in an undergraduate engineering program? Yosso's (2005) community cultural wealth was used to the analyze data. Findings suggest through Yosso's (2005) aspirational capital, familial capital, social capital, navigational capital, and resistant capital the Latina student persisted in their engineering programs. These contributing factors brought to light five themes that emerged, the discovery of academic passions, guidance and support of family and teachers, preparation for and commitment to persistence, the power of community and collective engagement, and commitment to helping others. The themes supported their persistence in their engineering programs. Thus, this study informs policies, practices, and programs that support undergraduate Latina engineering student's persistence in engineering programs.

Amnestically Induced Persistence in Random Walks

Science.gov (United States)

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

2007-02-01

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

The persistence in a Lotka-Volterra competition systems with impulsive

International Nuclear Information System (INIS)

Zhen Jin; Han Maoan; Li Guihua

2005-01-01

In this paper, a nonautonomous two-dimensional competitive Lotka-Volterra system with impulsive is considered. we study the persistence and extinction, giving two inequalities involving averages of the growth rates and impulsive value, which guarantees persistence of the system. An extension of the principle of competition exclusion is obtained in this paper. Moreover, several examples are also worked out, they show that the impulsive can change the persistence of the system

Effects of interferon on cultured cells persistently infected with viruses

Energy Technology Data Exchange (ETDEWEB)

Crespi, M

1986-01-01

The role of interferon (IFN) in viral persistence at the cellular level was investigated. Two types of persistent infections were chosen. The first type was cell lines which contained hepatitis B virus (HBV) DNA (PLC/PRF/5 and Hep 3B cells) uninfected control hepatoma cells, (Mahlavu, HA22T and Hep G2 cells) or simian virus 40 (SV40) DNA (C2, C6, C11 cells) and control uninfected (CV-1 cells). In the second type of infection Vero cells persistently infected with SSPE or Sendai virus were used. The aim of this work was to determine what effect IFN had in these infections in terms of its antiviral and antiproliferative effects; which of the two major IFN-induced pathways, E enzyme or protein kinase were induced; whether there were any differences in sensitivity to IFN between the DNA and RNA virus persistent infections. The anti-viral effect of IFN was examined by its ability to inhibit Sindbis virus replication using a radioimmunoassay system. The antiproliferative effect of IFN was determined by cell counting and /sup 3/H-thymidine incorporation. The activation of the ribonuclease F, determined by the inhibition of /sup 3/H-leucine incorporation after introduction of 2-5 actin into the cells, was variable, being activated in all cell lines with the exception of the PLC/PRF/5, Hep 3B and Hep G2 cells. Major differences between the two DNA persistent infections and the two RNA persistent infections were found. No correlation was found between the presence of HBV or SV40 persistent infections and the sensitivity of the cell lines to IFN. Both the SSPE and Sendai virus persistent infections were resistant to the antiviral and antiproliferative effect of IFN.

Persisting nutritional neuropathy amongst former war prisoners.

Science.gov (United States)

Gill, G V; Bell, D R

1982-01-01

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

Long - Memory Persistence in African Stock Markets

Directory of Open Access Journals (Sweden)

Emmanuel Numapau Gyamfi

2016-05-01

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

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.

Persistence and extinction for a stochastic logistic model with infinite delay

Directory of Open Access Journals (Sweden)

Chun Lu

2013-11-01

Full Text Available This article, studies a stochastic logistic model with infinite delay. Using a phase space, we establish sufficient conditions for the extinction, nonpersistence in the mean, weak persistence, and stochastic permanence. A threshold between weak persistence and extinction is obtained. Our results state that different types of environmental noises have different effects on the persistence and extinction, and that the delay has no impact on the persistence and extinction for the stochastic model in the autonomous case. Numerical simulations illustrate the theoretical results.

Persistent fluctuations in stride intervals under fractal auditory stimulation

NARCIS (Netherlands)

Marmelat, V.C.M.; Torre, K.; Beek, P.J.; Daffertshofer, A.

2014-01-01

Stride sequences of healthy gait are characterized by persistent long-range correlations, which become anti-persistent in the presence of an isochronous metronome. The latter phenomenon is of particular interest because auditory cueing is generally considered to reduce stride variability and may

Localized persistent spin currents in defect-free quasiperiodic rings with Aharonov–Casher effect

International Nuclear Information System (INIS)

Qiu, R.Z.; Chen, C.H.; Cheng, Y.H.; Hsueh, W.J.

2015-01-01

We propose strongly localized persistent spin current in one-dimensional defect-free quasiperiodic Thue–Morse rings with Aharonov–Casher effect. The results show that the characteristics of these localized persistent currents depend not only on the radius filling factor, but also on the strength of the spin–orbit interaction. The maximum persistent spin currents in systems always appear in the ring near the middle position of the system array whether or not the Thue–Morse rings array is symmetrical. The magnitude of the persistent currents is proportional to the sharpness of the resonance peak, which is dependent on the bandwidth of the allowed band in the band structure. The maximum persistent spin currents also increase exponentially as the generation order of the system increases. - Highlights: • Strongly localized persistent spin current in quasiperiodic AC rings is proposed. • Localized persistent spin currents are much larger than those produced by traditional mesoscopic rings. • Characteristics of the localized persistent currents depend on the radius filling factor and SOI strength. • The maximum persistent current increases exponentially with the system order. • The magnitude of the persistent currents is related to the sharpness of the resonance

Persistent currents in three-dimensional shell-doped nanorings

International Nuclear Information System (INIS)

Ning, Xu; Jian-Wen, Ding; Hong-Bo, Chen; Ming-Ming, Ma

2009-01-01

The persistent current in three-dimensional (P × N 2 ) nanorings as a function of the unit cell number (P), the channel number (M = N 2 ), surface disorder (ξ), and temperature (T) is theoretically investigated in terms of rotational symmetry. On the whole, the typical current increases linearly with √M but decreases exponentially with P, while wide fluctuations exist therein. In the presence of surface disorder, the persistent current decreases with ξ in the regime of weak disorder but increases in the regime of strong disorder. In addition, it is found that the persistent current in perfect rings decreases exponentially with temperature even at T * , while in most disorder rings, the typical current decreases slightly with temperature at T *

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Science.gov (United States)

Schneider, Adele; Bardakjian, Tanya M; Zhou, Jie; Hughes, Nkecha; Keep, Rosanne; Dorsainville, Darnelle; Kherani, Femida; Katowitz, James; Schimmenti, Lisa A; Hummel, Marybeth; Fitzpatrick, David R; Young, Terri L

2008-11-01

The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleotide deletion, c.551delC, which predicts p.Pro184ArgfsX19. The hypothetical protein product is predicted to lead to haploinsufficient SOX2 function. Mosaicism for this mutation in the SOX2 gene was also identified in their clinically unaffected mother in peripheral blood DNA. Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband. Copyright 2008 Wiley-Liss, Inc.

On spurious anti-persistence in the US stock indices

International Nuclear Information System (INIS)

Kristoufek, Ladislav

2010-01-01

We reexamine the results of Serletis and Rosenberg [Serletis A, Rosenberg A. Mean reversion in the US stock market. Chaos, Solitons and Fractals 2009;40:2007-2015.] who claim that the returns of the most important US stock indices (DJI, NASDAQ, NYSE and S and P500) are strongly anti-persistent and thus mean reverting. We apply various methods to detect long-range dependence - detrending moving average, detrended fluctuation analysis, generalized Hurst exponent approach, classical rescaled range analysis and modified rescaled range analysis. We show that there are no signs of anti-persistence in any of the indices. Moreover, we discuss that the authors did not find any anti-persistence but rather showed returns of the said assets do not follow the scaling power law around their moving average with varying window length. Anti-persistence is thus spurious and due to wrong application of detrending moving average method.

Improving persistence in red clover: Insights from QTL analysis and comparative phenotypic evaluation

DEFF Research Database (Denmark)

Herrmann, Dorris; Boller, Beat; Studer, Bruno

2008-01-01

, persistence is difficult to improve. The objectives of this study were to optimize the phenotypic evaluation of persistence, to identify quantitative trait loci (QTLs) for this important trait, and to investigate the association of persistence with other important traits. A weighted average of vigor scores...... assessed during two winters and three growing seasons was identified as the optimal method to phenotype persistence. For this index, one QTL explaining 12.2% of the total phenotypic variation was identified. While there was no negative correlation between persistence and seed yield, persistence...

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.

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

Long-term persistence of pioneer species in tropical forest soil seed banks

Energy Technology Data Exchange (ETDEWEB)

Dalling, J W; Brown, T A

2008-10-05

In tropical forests, pioneer species regenerate from seeds dispersed directly into canopy gaps, and from seeds that persisted in soil seed banks before gap formation. However, life-history models suggest that selection for long-term persistence of seeds in soil should be weak, as persistence incurs a fitness cost resulting from prolonged generation time. We use a carbon dating technique to provide the first direct measurements of seed persistence in undisturbed tropical forest seed banks. We show that seeds germinate successfully from surface soil microsites up to 38 years after dispersal. Decades-long persistence may be common in pioneers with relatively large mass, and appears to be unrelated to specific regeneration requirements. In Croton billbergianus, a sub-canopy tree that recruits in abundant small gaps, long-term persistence is associated with short-distance ballistic seed dispersal. In Trema micrantha, a canopy tree with widespread dispersal, persistence is associated with a requirement for large gaps that form infrequently in old-growth forest.

Persistent fluctuations in stride intervals under fractal auditory stimulation.

Directory of Open Access Journals (Sweden)

Vivien Marmelat

Full Text Available Stride sequences of healthy gait are characterized by persistent long-range correlations, which become anti-persistent in the presence of an isochronous metronome. The latter phenomenon is of particular interest because auditory cueing is generally considered to reduce stride variability and may hence be beneficial for stabilizing gait. Complex systems tend to match their correlation structure when synchronizing. In gait training, can one capitalize on this tendency by using a fractal metronome rather than an isochronous one? We examined whether auditory cues with fractal variations in inter-beat intervals yield similar fractal inter-stride interval variability as isochronous auditory cueing in two complementary experiments. In Experiment 1, participants walked on a treadmill while being paced by either an isochronous or a fractal metronome with different variation strengths between beats in order to test whether participants managed to synchronize with a fractal metronome and to determine the necessary amount of variability for participants to switch from anti-persistent to persistent inter-stride intervals. Participants did synchronize with the metronome despite its fractal randomness. The corresponding coefficient of variation of inter-beat intervals was fixed in Experiment 2, in which participants walked on a treadmill while being paced by non-isochronous metronomes with different scaling exponents. As expected, inter-stride intervals showed persistent correlations similar to self-paced walking only when cueing contained persistent correlations. Our results open up a new window to optimize rhythmic auditory cueing for gait stabilization by integrating fractal fluctuations in the inter-beat intervals.

Impact of innate and environmental factors on wheezing persistence during childhood.

Science.gov (United States)

Just, Jocelyne; Belfar, Samira; Wanin, Stéphanie; Pribil, Céline; Grimfeld, Alain; Duru, Gérard

2010-05-01

Persistent asthma in adults starts often early in childhood and is associated with alterations in respiratory function that occur early in life. The aim of this study was to evaluate the importance of innate and environmental factors associated with occurrence of asthma during childhood in a population of recurrent wheezing infants followed prospectively. A cohort of infants less than 30 months old with recurrent wheezing was established in order to assess severity of respiratory symptoms and to look for the presence of atopy and environmental risk factors. At the age of 6 years, they were reevaluated with respect to remission or persistence of wheezing over the previous 12-month period. Data were available for 219 subjects aged 15 +/- 5 months. In 27% of the infants with recurrent wheeze, wheezing persisted until the age of 6 years. In multivariate analysis, stepwise logit analysis showed that the risk factors for persistent wheezing are eosinophilia >or=470/mm(3), allergenic sensitization, and a father with asthma. Environmental factors present during the first year of life that protect from persistence of wheezing are ( 1 ) breastfeeding for longer than 3 months, ( 2 ) pets at home, and ( 3 ) >or=3 siblings. The detection rate for persistent wheezing in this model is 72%. The persistence score showed good specificity 91% but low sensitivity 35%. This study confirms the role of atopic host factors on wheezing persistence during childhood and detected protective environmental factors.

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....

Assessing the persistence of pharmaceuticals in the aquatic environment: Challenges and needs

Directory of Open Access Journals (Sweden)

Qingwei Bu

2016-09-01

Full Text Available Chemical’s persistence is known to be an important parameter applied for decades to identify persistent organic pollutants in hazard and/or risk assessments. Nevertheless it is greatly challenged in the case of emerging contaminants such as pharmaceuticals because the persistence of these chemicals could be more affected by environmental conditions. This fact brings more challenges to the current system for evaluating the persistence of chemical contaminants. In this paper, challenges in assessing the persistence of pharmaceuticals were identified, and more importantly research needs were addressed based on the existing data and knowledge.

Persistence of Salmonid Redds

Science.gov (United States)

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

2013-12-01

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

Changes in persistence, spurious regressions and the Fisher hypothesis

DEFF Research Database (Denmark)

Kruse, Robinson; Ventosa-Santaulària, Daniel; Noriega, Antonio E.

Declining inflation persistence has been documented in numerous studies. When such series are analyzed in a regression framework in conjunction with other persistent time series, spurious regressions are likely to occur. We propose to use the coefficient of determination R2 as a test statistic to...

Rapid Elimination of the Persistent Synergid through a Cell Fusion Mechanism

KAUST Repository

Maruyama, Daisuke

2015-05-01

In flowering plants, fertilization-dependent degeneration of the persistent synergid cell ensures one-on-one pairings of male and female gametes. Here, we report that the fusion of the persistent synergid cell and the endosperm selectively inactivates the persistent synergid cell in Arabidopsis thaliana. The synergid-endosperm fusion causes rapid dilution of pre-secreted pollen tube attractant in the persistent synergid cell and selective disorganization of the synergid nucleus during the endosperm proliferation, preventing attractions of excess number of pollen tubes (polytubey). The synergid-endosperm fusion is induced by fertilization of the central cell, while the egg cell fertilization predominantly activates ethylene signaling, an inducer of the synergid nuclear disorganization. Therefore, two female gametes (the egg and the central cell) control independent pathways yet coordinately accomplish the elimination of the persistent synergid cell by double fertilization. Two female gametes (the egg cell and the central cell) in flowering plants coordinately prevent attractions of excess number of pollen tubes via two mechanisms to inactivate persistent synergid cell. © 2015 Elsevier Inc.

Coupling effect of nodes popularity and similarity on social network persistence.

Science.gov (United States)

Jin, Xiaogang; Jin, Cheng; Huang, Jiaxuan; Min, Yong

2017-02-21

Network robustness represents the ability of networks to withstand failures and perturbations. In social networks, maintenance of individual activities, also called persistence, is significant towards understanding robustness. Previous works usually consider persistence on pre-generated network structures; while in social networks, the network structure is growing with the cascading inactivity of existed individuals. Here, we address this challenge through analysis for nodes under a coevolution model, which characterizes individual activity changes under three network growth modes: following the descending order of nodes' popularity, similarity or uniform random. We show that when nodes possess high spontaneous activities, a popularity-first growth mode obtains highly persistent networks; otherwise, with low spontaneous activities, a similarity-first mode does better. Moreover, a compound growth mode, with the consecutive joining of similar nodes in a short period and mixing a few high popularity nodes, obtains the highest persistence. Therefore, nodes similarity is essential for persistent social networks, while properly coupling popularity with similarity further optimizes the persistence. This demonstrates the evolution of nodes activity not only depends on network topology, but also their connective typology.

An Updated Global Picture of Cigarette Smoking Persistence among Adults

Science.gov (United States)

Troost, Jonathan P.; Barondess, David A.; Storr, Carla L.; Wells, J. Elisabeth; Al-Hamzawi, Ali Obaid; Andrade, Laura Helena; Bromet, Evelyn; Bruffaerts, Ronny; Florescu, Silvia; de Girolamo, Giovanni; de Graaf, Ron; Gureje, Oye; Haro, Josep Maria; Hu, Chiyi; Huang, Yueqin; Karam, Aimee N.; Kessler, Ronald C.; Lepine, Jean-Pierre; Matschinger, Herbert; Medina-Mora, Maria Elena; O'Neill, Siobhan; Posada-Villa, Jose; Sagar, Rajesh; Takeshima, Tadashi; Tomov, Toma; Williams, David R.; Anthony, James C.

2012-01-01

Background Cross-national variance in smoking prevalence is relatively well documented. The aim of this study is to estimate levels of smoking persistence across 21 countries with a hypothesized inverse relationship between country income level and smoking persistence. Methods Data from the World Health Organization World Mental Health Survey Initiative were used to estimate cross-national differences in smoking persistence–the proportion of adults who started to smoke and persisted in smoking by the date of the survey. Result There is large variation in smoking persistence from 25% (Nigeria) to 85% (China), with a random-effects meta-analytic summary estimate of 55% with considerable cross-national variation. (Cochran's heterogeneity Q statistic=6,845; p<0.001). Meta-regressions indicated observed differences are not attributable to differences in country income level, age distribution of smokers, or how recent the onset of smoking began within each country. Conclusion While smoking should remain an important public health issue in any country where smokers are present, this report identifies several countries with higher levels of smoking persistence (namely, China and India). PMID:23626929

Activated ClpP kills persisters and eradicates a chronic biofilm infection.

Energy Technology Data Exchange (ETDEWEB)

Conlon, Brian P.; Nakayasu, Ernesto S.; Fleck, Laura E.; LaFleur, Michael D.; Isabella, Vincent M.; Coleman, K.; Leonard, Steve N.; Smith, Richard D.; Adkins, Joshua N.; Lewis, Kim

2013-11-21

The current antibiotic crisis stems from two distinct phenomena-drug resistance, and drug tolerance. Resistance mechanisms such as drug efflux or modification prevent antibiotics from binding to their targets 1, allowing pathogens to grow. Antibiotic tolerance is the property of persister cells, phenotypic variants of regular bacteria 2. Antibiotics kill by corrupting targets, but these are inactive in dormant persisters, leading to tolerance. Persisters were first identified by Joseph Bigger in 1944, when he discovered a surviving sub-population of Staphylococcus following treatment with penicillin3. Persisters are largely responsible for recalcitrance of chronic diseases such as tuberculosis, and various infections associated with biofilms - endocarditis, osteomyelitis, infections of catheters and indwelling devices, and deep-seated infections of soft tissues 4. There are a number of redundant pathways involved in persister formation5,6 precluding development of drugs inhibiting their formation. The acyldepsipeptide antibiotic (ADEP 4) has been shown to activate the ClpP protease resulting in death of growing cells 7. Here we show that ADEP4 activated ClpP becomes a fairly non-specific protease and kills persister cells by degradation of over 400 intracellular targets. clpP mutants are resistant to ADEP4 7, but we find that they display increased susceptibility to killing by a range of conventional antibiotics. Combining ADEP4 with rifampicin leads to eradication of persisters, stationary and biofilm populations of Staphylococcus aureus in vitro and in a deep-seated murine infection. Target corruption/activation provides an approach to killing persisters and eradicating chronic infections.

Why They Stay: Women Persisting in US Engineering Careers

Science.gov (United States)

Buse, Kathleen; Bilimoria, Diana; Perelli, Sheri

2013-01-01

Purpose: Women remain dramatically underrepresented in the engineering profession and far fewer women than men persist in the field. This study aims to identify individual and contextual factors that distinguish women who persist in engineering careers in the US. Design/methodology/approach: Qualitative research was conducted based on…

PERSISTENCY ANALYSIS OF PARTICIPANTS OF PENSION PLANS

OpenAIRE

ROBERTA DE SOUZA CHUN

2007-01-01

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

Environmental Persistence Influences Infection Dynamics for a Butterfly Pathogen.

Directory of Open Access Journals (Sweden)

Dara A Satterfield

Full Text Available Many pathogens, including those infecting insects, are transmitted via dormant stages shed into the environment, where they must persist until encountering a susceptible host. Understanding how abiotic conditions influence environmental persistence and how these factors influence pathogen spread are crucial for predicting patterns of infection risk. Here, we explored the consequences of environmental transmission for infection dynamics of a debilitating protozoan parasite (Ophryocystis elektroscirrha that infects monarch butterflies (Danaus plexippus. We first conducted an experiment to observe the persistence of protozoan spores exposed to natural conditions. Experimental results showed that, contrary to our expectations, pathogen doses maintained high infectivity even after 16 days in the environment, although pathogens did yield infections with lower parasite loads after environmental exposure. Because pathogen longevity exceeded the time span of our experiment, we developed a mechanistic model to better explore environmental persistence for this host-pathogen system. Model analysis showed that, in general, longer spore persistence led to higher infection prevalence and slightly smaller monarch population sizes. The model indicated that typical parasite doses shed onto milkweed plants must remain viable for a minimum of 3 weeks for prevalence to increase during the summer-breeding season, and for 11 weeks or longer to match levels of infection commonly reported from the wild, assuming moderate values for parasite shedding rate. Our findings showed that transmission stages of this butterfly pathogen are long-lived and indicated that this is a necessary condition for the protozoan to persist in local monarch populations. This study provides a modeling framework for future work examining the dynamics of an ecologically important pathogen in an iconic insect.

Persistence Mechanisms of Conjugative Plasmids

DEFF Research Database (Denmark)

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

2009-01-01

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

Sputum Neutrophilia in Severe Persistent Asthmatics

International Nuclear Information System (INIS)

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

2014-01-01

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

Atmospheric circulation associated with extreme generalized frosts persistence in central-southern South America

Energy Technology Data Exchange (ETDEWEB)

Mueller, Gabriela V. [Centro de Investigaciones Cientificas y Transferencia de Tecnologia a la Produccion, Diamante (CICYTTTP-CONICET), Diamante, Entre Rios (Argentina); Berri, Guillermo J. [Servicio Meteorologico Nacional - CONICET, Buenos Aires (Argentina)

2012-03-15

Generalized frosts (GF) in central-southern South America have a strong impact due to their spatial extension, and they are especially important when they become persistent. This paper aims at identifying the atmospheric circulation features that determine the extreme GF persistence, i.e. very persistent and without persistence, and the differences between them, during the 1961-1990 winters. Since the GF without persistence group outnumbers the other one, two subgroups are composed with events selected from winters with maximum and minimum frequency of GF occurrence, respectively. Additionally, the individual event of July 1988 within the very persistent GF group is analyzed due to its exceptional persistence. GF persistence is mainly conditioned by two large-scale dynamic factors. One is the Rossby wave train propagation across the Pacific Ocean, and the other one is the location with respect to the continent and the magnitude of the confluence in the jet entrance region in subtropical latitudes. A predominantly meridional Rossby wave train propagation with a confluence region to the west of the continent prior to the event favors GF with intermediate (null) persistence depending on the greater (lesser) jet acceleration. This is conditioned by the magnitude of the confluence, which, in turn, depends on the disposition of the wave train propagation pattern. Instead, an essentially zonal propagation with a confluence region to the east of the continent favors the GF persistence for several days, yet if there is no confluence the event does not persist. The greatest persistence of an event combines the confluence/diffluence of the jet entrance/exit region, which depends on the disposition with respect to the continent of the zonally propagating Rossby wave trains. (orig.)

Electronic States and Persistent Currents in Nanowire Quantum Ring

Science.gov (United States)

Kokurin, I. A.

2018-04-01

The new model of a quantum ring (QR) defined inside a nanowire (NW) is proposed. The one-particle Hamiltonian for electron in [111]-oriented NW QR is constructed taking into account both Rashba and Dresselhaus spin-orbit coupling (SOC). The energy levels as a function of magnetic field are found using the exact numerical diagonalization. The persistent currents (both charge and spin) are calculated. The specificity of SOC and arising anticrossings in energy spectrum lead to unusual features in persistent current behavior. The variation of magnetic field or carrier concentration by means of gate can lead to pure spin persistent current with the charge current being zero.

Persistence-Driven Durotaxis: Generic, Directed Motility in Rigidity Gradients

Science.gov (United States)

Novikova, Elizaveta A.; Raab, Matthew; Discher, Dennis E.; Storm, Cornelis

2017-02-01

Cells move differently on substrates with different rigidities: the persistence time of their motion is higher on stiffer substrates. We show that this behavior—in and of itself—results in a net flux of cells directed up a soft-to-stiff gradient. Using simple random walk models with varying persistence and stochastic simulations, we characterize the propensity to move in terms of the durotactic index also measured in experiments. A one-dimensional model captures the essential features and highlights the competition between diffusive spreading and linear, wavelike propagation. Persistence-driven durokinesis is generic and may be of use in the design of instructive environments for cells and other motile, mechanosensitive objects.

Lactase persistence genotypes and malaria susceptibility in Fulani of Mali

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Dolo Amagana

2011-01-01

Full Text Available Abstract Background Fulani are a widely spread African ethnic group characterized by lower susceptibility to Plasmodium falciparum, clinical malaria morbidity and higher rate of lactase persistence compared to sympatric tribes. Lactase non-persistence, often called lactose intolerance, is the normal condition where lactase activity in the intestinal wall declines after weaning. Lactase persistence, common in Europe, and in certain African people with traditions of raising cattle, is caused by polymorphisms in the enhancer region approximately 14 kb upstream of the lactase gene. Methods To evaluate the relationship between malaria and lactase persistence genotypes, a 400 bp region surrounding the main European C/T-13910 polymorphism upstream of the lactase gene was sequenced. DNA samples used in the study originated from 162 Fulani and 79 Dogon individuals from Mali. Results Among 79 Dogon only one heterozygote of the lactase enhancer polymorphism was detected, whereas all others were homozygous for the ancestral C allele. Among the Fulani, the main European polymorphism at locus C/T-13910 was by far the most common polymorphism, with an allele frequency of 37%. Three other single-nucleotide polymorphisms were found with allele frequencies of 3.7%, 1.9% and 0.6% each. The novel DNA polymorphism T/C-13906 was seen in six heterozygous Fulani. Among the Fulani with lactase non-persistence CC genotypes at the C/T-13910 locus, 24% had malaria parasites detectable by microscopy compared to 18% for lactase persistent genotypes (P = 0.29. Pooling the lactase enhancer polymorphisms to a common presumptive genotype gave 28% microscopy positives for non-persistent and 17% for others (P = 0.11. Conclusions Plasmodium falciparum parasitaemia in asymptomatic Fulani is more common in individuals with lactase non-persistence genotypes, but this difference is not statistically significant. The potential immunoprotective properties of dietary cow milk as a reason

Persistent fetal vasculature: ocular features, management of cataract and outcomes

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Marcia Beatriz Tartarella

2013-06-01

Full Text Available PURPOSES: To describe ocular features, management of cataract and functional outcomes in patients with persistent fetal vasculature. METHODS: Retrospective, descriptive case series of patients with persistent fetal vasculature. Data were recorded from the Congenital Cataract Section of Federal University of São Paulo, Brazil from 2001 to 2012. All patients were evaluated for sex, age at diagnosis, systemic findings, laterality, age at surgery, and initial and final follow-up visual acuities. Follow-up and complications after cataract surgery were recorded. Ultrasound was performed in all cases and ocular eco-Doppler was performed in most. RESULTS: The study comprised 53 eyes from 46 patients. Age at diagnosis ranged from 5 days of life to 10 years-old (mean 22.7 months. Twenty-seven patients were male (58.7%. Persistent fetal vasculature was bilateral in 7 patients (15.2%. Forty-two eyes (79.2% had combined (anterior and posterior forms PFV presentation, 5 eyes (9.4% had only anterior persistent fetal vasculature presentation and 6 eyes (11.3% had posterior persistent fetal vasculature presentation. Thirty-eight eyes (71.7% were submitted to cataract surgery. Lensectomy combined with anterior vitrectomy was performed in 18 eyes (47.4%. Phacoaspiration with intraocular lens implantation was performed in 15 eyes (39.5%, and without lens implantation in 5 eyes (13.2%. Mean follow-up after surgery was 44 months. Postoperative complications were posterior synechiae (3 cases, retinal detachment (2 cases, phthisis (3 cases, posterior capsular opacification (8 cases, inflammatory pupillary membrane (5 cases, glaucoma (4 cases, intraocular lens implantation displacement (1 case and vitreous hemorrhage (2 cases. Complications were identified in 19 (50% of the 38 operated eyes. Visual acuity improved after cataract surgery in 83% of the eyes. CONCLUSIONS: Patients with persistent fetal vasculature have variable clinical presentation. There is an

PERSISTENCE AND ACADEMIC ACHIEVEMENT IN FOREIGN LANGUAGE IN NATURAL SCIENCES STUDENTS

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Alexandr I Krupnov

2017-12-01

Full Text Available The article discusses the results of empirical study of the association between variables of persistence and academic achievement in foreign languages. The sample includes students of the Faculty of Physics, Mathematics and Natural Science at the RUDN University ( n = 115, divided into 5 subsamples, two of which are featured in the present study (the most and the least successful students subsamples. Persistence as a personality trait is studied within A.I. Krupnov’s system-functional approach. A.I. Krupnov’s paper-and-pencil test was used to measure persistence variables. Academic achievement was measured according to the four parameters: Phonetics, Grammar, Speaking and Political vocabulary based on the grades students received during the academic year. The analysis revealed that persistence displays different associations with academic achievement variables in more and less successful students subsamples, the general prominence of this trait is more important for unsuccessful students. Phonetics is the academic achievement variable most associated with persistence due to its nature, a skill one can acquire through hard work and practice which is the definition of persistence. Grammar as an academic achievement variable is not associated with persistence and probably relates to other factors. Unsuccessful students may have difficulties in separating various aspects of language acquisition from each other which should be taken into consideration by the teachers.

Bioindicator demonstrates high persistence of sulfentrazone in dry soil

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Renato Coradello Lourenço

2015-09-01

Full Text Available In sugarcane crop areas, the application of preemergence herbicides with long residual effect in the soil has been frequently necessary. The herbicide persistence in the soil must be high especially because of applications during the dry season of the year, after sugarcane harvest. This study aimed at estimating the sulfentrazone persistence and dissipation in dry soil using bioindicator. Five experiments were carried out, divided into two phases. In the first phase, three dose-response curves were adjusted to select the best bioindicator to be adopted in the second phase. Niger was adopted due to its lower sensibility to sulfentrazone. In the second phase, a new dose-response curve was carried out, with six doses of sulfentrazone, in order to standardize the bioindicator sensibility to sulfentrazone. At the end, another experiment with six periods of sulfentrazone persistence in dry clay soil was developed. Persistence periods were: 182, 154, 125, 98 and 30 days. The bioindicator was seeded at the application day in treated plots and control. In this experiment, the sulfentrazone dose applied was 800 g ha-1. Niger was considered a good species to estimate the sulfentrazone persistence in dry soil. The sulfentrazone phytotoxic activity was identified up to 182 days after application, and its average dissipation rate was 2.15 g ha-1 day-1, with half-life higher than 182 days.

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

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

2011-09-01

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

Overview of persistent pain in older adults.

Science.gov (United States)

Molton, Ivan R; Terrill, Alexandra L

2014-01-01

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

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

Persistent phosphors for painting, medical and biological applications

International Nuclear Information System (INIS)

Nazarov, M.

2013-01-01

Multiphase micro and nanoparticle persistent phosphors are synthesized and applied for different fields including painting, medical and biological investigations. A lot of examples show a broad range of applications of persistent luminescence from bulk materials to high tech products, especially in medicine. The development of high efficiency nanosized phosphor makes it possible to propose persistent materials as very good candidates for photodynamic therapy of cancer. An artificial block from slag, concrete, and sand covered with SrAl 2 O 4 :Eu 2+ , Dy 3+ based phosphor is prepared, and a new direction in biology for algae cultivation and artificial reef is discussed. For the first time, underwater luminescence is experimentally studied under real sea conditions. Bright blue-green long-lasting afterglow is registered at a depth of 5 m. The fishes are attracted by the light of the artificial reef. (author)

Saffold Virus Type 3 (SAFV-3) Persists in HeLa Cells

Science.gov (United States)

Himeda, Toshiki; Hosomi, Takushi; Okuwa, Takako; Muraki, Yasushi; Ohara, Yoshiro

2013-01-01

Saffold virus (SAFV) was identified as a human cardiovirus in 2007. Although several epidemiological studies have been reported, they have failed to provide a clear picture of the relationship between SAFV and human diseases. SAFV genotype 3 has been isolated from the cerebrospinal fluid specimen of patient with aseptic meningitis. This finding is of interest since Theiler’s murine encephalomyelitis virus (TMEV), which is the closely related virus, is known to cause a multiple sclerosis-like syndrome in mice. TMEV persistently infects in mouse macrophage cells in vivo and in vitro, and the viral persistence is essential in TMEV-induced demyelinating disease. The precise mechanism(s) of SAFV infection still remain unclear. In order to clarify the SAFV pathogenicity, in the present study, we studied the possibilities of the in vitro persistent infection of SAFV. The two distinct phenotypes of HeLa cells, HeLa-N and HeLa-R, were identified. In these cells, the type of SAFV-3 infection was clearly different. HeLa-N cells were lyticly infected with SAFV-3 and the host suitable for the efficient growth. On the other hand, HeLa-R cells were persistently infected with SAFV-3. In addition, the SAFV persistence in HeLa-R cells is independent of type I IFN response of host cells although the TMEV persistence in mouse macrophage cells depends on the response. Furthermore, it was suggested that SAFV persistence may be influenced by the expression of receptor(s) for SAFV infection on the host cells. The present findings on SAFV persistence will provide the important information to encourage the research of SAFV pathogenicity. PMID:23308162

Impact of persistent cytomegalovirus infection on human neuroblastoma cell gene expression

International Nuclear Information System (INIS)

Hoever, Gerold; Vogel, Jens-Uwe; Lukashenko, Polina; Hofmann, Wolf-Karsten; Komor, Martina; Doerr, Hans Wilhelm; Cinatl, Jindrich

2005-01-01

In a model of human neuroblastoma (NB) cell lines persistently infected with human cytomegalovirus (HCMV) we previously showed that persistent HCMV infection is associated with an increased malignant phenotype, enhanced drug resistance, and invasive properties. To gain insights into the mechanisms of increased malignancy we analyzed the global changes in cellular gene expression induced by persistent HCMV infection of human neuroblastoma cells by use of high-density oligonucleotide microarrays (HG-U133A, Affymetrix) and RT-PCR. Comparing the gene expression of different NB cell lines with persistently infected cell sub-lines revealed 11 host cell genes regulated in a similar manner throughout all infected samples. Nine of these 11 genes may contribute to the previously observed changes in malignant phenotype of persistently HCMV infected NB cells by influencing invasive growth, apoptosis, angiogenesis, and proliferation. Thus, this work provides the basis for further functional studies

The existence and persistence of household financial hardship

OpenAIRE

Brown, S.; Ghosh, P.; Taylor, K.

2012-01-01

We investigate the existence and persistence of financial hardship at the household level using data from the British Household Panel Survey. Our modelling strategy makes three important contributions to the existing literature on household finances. Firstly, we model nine different types of household financial problems within a joint framework, allowing for correlation in the random effects across the nine equations. Secondly, we develop a dynamic framework in order to model the persistence ...

Professional Role Confidence and Gendered Persistence in Engineering

OpenAIRE

Cech, Erin; Rubineau, Brian; Seron, Caroll; Silbey, Susan S.

2011-01-01

Social psychological research on gendered persistence in science, technology, engineering, and mathematics (STEM) professions is dominated by two explanations: women leave because they perceive their family plans to be at odds with demands of STEM careers, and women leave due to low self-assessment of their skills in STEM’s intellectual tasks, net of their performance. This study uses original panel data to examine behavioral and intentional persistence among students who enter an engineering...

Autologous Blood Pleurodesis In Patients With Persistent Air Leaks

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Agkajanzadeh M

2003-10-01

Full Text Available Persistent air leaks occur after Spontaneous pneumothorax both primary and secondary, and after lungs trauma and lung surgeries are sever problems encountered chest surgeons with. Persistent air leak causes longer patients hospitalization."nMaterials and Methods: We used autologous blood pleurodesis in patients with persistent air leak for 30patients with more than 8 days air leaks, during a three years period 1377-1380 (1999-2002."nResults: The patients had 19 years up to 70 years old. Eight patients had thoracotomy and lobectomy and /or segmentectomies 6 with primary pneumothorax, 10 with secondary pneumothorax, and four with penetrated or blunt thoracic traumas. Blood was obtained from femoral or brachial veins and 70-150 mis. Injected in chest tubes. Chest bottle was first lied 80cm higher than body levels. After 24 hours repositioned in normal levels, and patients were supervised. Via chest tube we injected blood 70-100ml.for young patients, and 100-150 ml for older patients into intra pleural space. There were no clamped chest tubes. There were no pain, respiratory distress, fever, or cough in pleurodesized patients. The only patient's complaint was local pain in femoral vein or brachial vein because blood sampling and blood obtaining, although there was no local visible complication as hematoma or bleeding. After 48 hours in 24 patients air leak ceased. In six patients because persistent air leak autologous blood pleurodesis repeated, two patients after 48hours"nair leak ceased, remaining four patients underwent for thoracotomies, success rate"nwas 86.6%."nConclusion: According above success rate we suggest autologous blood pleurodesis in patients with persistent air leak is a reliable, effective, and no complicated procedure for persistent air leaks.

Persistent Mullerian Duct Syndrome (PMDS With Large Intraabdominal Seminoma

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Della Harigovind

2017-07-01

Full Text Available Persistent Mullerian Duct Syndrome, a form of male pseudohermaphroditism is characterized by the presence of the Mullerian duct derivatives in an otherwise phenotypically as well as genotypically normal male. We report a case of large intra abdominal seminoma in a male patient with cryptorchidism, along with persistence of Mullerian duct derivatives (uterus.

Higher persistence with valsartan compared with enalapril in daily practice

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Satu J Siiskonen

2008-01-01

Full Text Available Satu J Siiskonen1, Nancy S Breekveldt-Postma1, Gábor Vincze2, Zeba M Khan3, Joëlle A Erkens1, Ron MC Herings11PHARMO Institute for Drug Outcomes Research, Utrecht, The Netherlands; 2Novartis Pharma AG, Basel, Switzerland; 3Novartis Pharmaceuticals Corporation, East Hanover, NJ, USAObjective: To compare persistence with valsartan and enalapril in daily practice.Methods: The PHARMO Record Linkage System includes various data registries including drug dispensing and hospitalizations for ≥2 million subjects in the Netherlands. Patients newly treated with valsartan or enalapril in the period of 1999–2002 were selected. Persistence was calculated by summing up the number of days of continuous treatment. Patients who remained on therapy with valsartan or enalapril for 12 or 24 months were defined as persistent at 1 or 2 years, respectively.Results: 3364 patients received valsartan and 9103 patients received enalapril. About 62% of patients treated with valsartan and 55% of patients treated with enalapril remained on therapy at 12 months after the initial dispensing, while 48% of patients treated with valsartan and 43% of patients treated with enalapril were persistent at 24 months. Patients treated with valsartan were about 20% more likely to stay on treatment than patients treated with enalapril (1 year RRadj: 1.23, 95% CI: 1.16–1.32; 2 years RRadj: 1.16, 95% CI: 1.11–1.23.Conclusions: Real-life persistence is higher with valsartan than with enalapril. The results of this and other studies on persistence in daily practice should be taken into account when deciding upon drug treatment for hypertension.Keywords: persistence, antihypertensive, valsartan, enalapril, angiotensin-converting enzyme inhibitors, angiotensin-2-receptor blockers

Persistent renal enhancement after intra-arterial versus intravenous iodixanol administration

International Nuclear Information System (INIS)

Chou, Shinn-Huey; Wang, Zhen J.; Kuo, Jonathan; Cabarrus, Miguel; Fu Yanjun; Aslam, Rizwan; Yee, Judy; Zimmet, Jeffrey M.; Shunk, Kendrick; Elicker, Brett; Yeh, Benjamin M.

2011-01-01

Purpose: To examine the clinical significance of persistent renal enhancement after iodixanol administration. Methods: We retrospectively studied 166 consecutive patients who underwent non-enhanced abdominopelvic CT within 7 days after receiving intra-arterial (n = 99) or intravenous (n = 67) iodixanol. Renal attenuation was measured for each non-enhanced CT scan. Persistent renal enhancement was defined as CT attenuation >55 Hounsfield units (HU). Contrast-induced nephropathy (CIN) was defined as a rise in serum creatinine >0.5 mg/dL within 5 days after contrast administration. Results: While the intensity and frequency of persistent renal enhancement was higher after intra-arterial (mean CT attenuation of 73.7 HU, seen in 54 of 99 patients, or 55%) than intravenous contrast material administration (51.8 HU, seen in 21 of 67, or 31%, p < 0.005), a multivariate regression model showed that the independent predictors of persistent renal enhancement were a shorter time interval until the subsequent non-enhanced CT (p < 0.001); higher contrast dose (p < 0.001); higher baseline serum creatinine (p < 0.01); and older age (p < 0.05). The route of contrast administration was not a predictor of persistent renal enhancement in this model. Contrast-induced nephropathy was noted in 9 patients who received intra-arterial (9%) versus 3 who received intravenous iodixanol (4%), and was more common in patients with persistent renal enhancement (p < 0.01). Conclusion: Persistent renal enhancement at follow-up non-contrast CT suggests a greater risk for contrast-induced nephropathy, but the increased frequency of striking renal enhancement in patients who received intra-arterial rather than intravenous contrast material also reflects the larger doses of contrast and shorter time to subsequent follow-up CT scanning for such patients.

On persistently positively expansive maps

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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.

Brain differences between persistent and remitted attention deficit hyperactivity disorder.

Science.gov (United States)

Mattfeld, Aaron T; Gabrieli, John D E; Biederman, Joseph; Spencer, Thomas; Brown, Ariel; Kotte, Amelia; Kagan, Elana; Whitfield-Gabrieli, Susan

2014-09-01

Previous resting state studies examining the brain basis of attention deficit hyperactivity disorder have not distinguished between patients who persist versus those who remit from the diagnosis as adults. To characterize the neurobiological differences and similarities of persistence and remittance, we performed resting state functional magnetic resonance imaging in individuals who had been longitudinally and uniformly characterized as having or not having attention deficit hyperactivity disorder in childhood and again in adulthood (16 years after baseline assessment). Intrinsic functional brain organization was measured in patients who had a persistent diagnosis in childhood and adulthood (n = 13), in patients who met diagnosis in childhood but not in adulthood (n = 22), and in control participants who never had attention deficit hyperactivity disorder (n = 17). A positive functional correlation between posterior cingulate and medial prefrontal cortices, major components of the default-mode network, was reduced only in patients whose diagnosis persisted into adulthood. A negative functional correlation between medial and dorsolateral prefrontal cortices was reduced in both persistent and remitted patients. The neurobiological dissociation between the persistence and remittance of attention deficit hyperactivity disorder may provide a framework for the relation between the clinical diagnosis, which indicates the need for treatment, and additional deficits that are common, such as executive dysfunctions. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Fano resonance and persistent current of a quantum ring

International Nuclear Information System (INIS)

Xiong Yongjian; Liang Xianting

2004-01-01

We investigate electron transport and persistent current of a quantum ring weakly attached to current leads. Assuming there is direct coupling (weakly or strongly) between two leads, electrons can transmit by the inter-lead coupling or tunneling through the quantum ring. The interference between the two paths yields asymmetric Fano line shape for conductance. In presence of interior magnetic flux, there is persistent current along the ring with narrow resonance peaks. The positions of the conductance resonances and the persistent current peaks correspond to the quasibound levels of the closed ring. This feature is helpful to determine the energy spectrum of the quantum ring. Our results show that the proposed setup provides a tunable Fano system

Term Structure Persistence

OpenAIRE

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

2012-01-01

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

Persistent postsurgical pain

DEFF Research Database (Denmark)

Werner, Mads Utke; Bischoff, Joakim Mutahi

2014-01-01

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

Persistent hyperthyroidism and de novo Graves' ophthalmopathy after total thyroidectomy.

Science.gov (United States)

Tay, Wei Lin; Loh, Wann Jia; Lee, Lianne Ai Ling; Chng, Chiaw Ling

2017-01-01

We report a patient with Graves' disease who remained persistently hyperthyroid after a total thyroidectomy and also developed de novo Graves' ophthalmopathy 5 months after surgery. She was subsequently found to have a mature cystic teratoma containing struma ovarii after undergoing a total hysterectomy and salpingo-oophorectomy for an incidental ovarian lesion. It is important to investigate for other causes of primary hyperthyroidism when thyrotoxicosis persists after total thyroidectomy.TSH receptor antibody may persist after total thyroidectomy and may potentially contribute to the development of de novo Graves' ophthalmopathy.

Role of Prefrontal Persistent Activity in Working Memory

Science.gov (United States)

Riley, Mitchell R.; Constantinidis, Christos

2016-01-01

The prefrontal cortex is activated during working memory, as evidenced by fMRI results in human studies and neurophysiological recordings in animal models. Persistent activity during the delay period of working memory tasks, after the offset of stimuli that subjects are required to remember, has traditionally been thought of as the neural correlate of working memory. In the last few years several findings have cast doubt on the role of this activity. By some accounts, activity in other brain areas, such as the primary visual and posterior parietal cortex, is a better predictor of information maintained in visual working memory and working memory performance; dynamic patterns of activity may convey information without requiring persistent activity at all; and prefrontal neurons may be ill-suited to represent non-spatial information about the features and identity of remembered stimuli. Alternative interpretations about the role of the prefrontal cortex have thus been suggested, such as that it provides a top-down control of information represented in other brain areas, rather than maintaining a working memory trace itself. Here we review evidence for and against the role of prefrontal persistent activity, with a focus on visual neurophysiology. We show that persistent activity predicts behavioral parameters precisely in working memory tasks. We illustrate that prefrontal cortex represents features of stimuli other than their spatial location, and that this information is largely absent from early cortical areas during working memory. We examine memory models not dependent on persistent activity, and conclude that each of those models could mediate only a limited range of memory-dependent behaviors. We review activity decoded from brain areas other than the prefrontal cortex during working memory and demonstrate that these areas alone cannot mediate working memory maintenance, particularly in the presence of distractors. We finally discuss the discrepancy between

Sequencing of Escherichia coli that cause persistent and transient Mastitis

Science.gov (United States)

The genomes of two strains of Escherichia coli that cause bovine mastitis were sequenced. These strains are known to be associated with persistent and transient mastitis: strain ECA-B causes a transient infection, and ECC-M leads to a persistent infection....

Persistent organic pollutants–are our methods sensitive and selective enough?

NARCIS (Netherlands)

de Boer, J.

2012-01-01

Due to the exponential growth of the world population and a strong worldwide economic development, humans are increasingly exposed to chemicals. This is particularly true for persistent, toxic chemicals that accumulate in organisms including humans. The presence of these persistent organic

Considerations of persistence and security in CHOICES, an object-oriented operating system

Science.gov (United States)

Campbell, Roy H.; Madany, Peter W.

1990-01-01

The current design of the CHOICES persistent object implementation is summarized, and research in progress is outlined. CHOICES is implemented as an object-oriented system, and persistent objects appear to simplify and unify many functions of the system. It is demonstrated that persistent data can be accessed through an object-oriented file system model as efficiently as by an existing optimized commercial file system. The object-oriented file system can be specialized to provide an object store for persistent objects. The problems that arise in building an efficient persistent object scheme in a 32-bit virtual address space that only uses paging are described. Despite its limitations, the solution presented allows quite large numbers of objects to be active simultaneously, and permits sharing and efficient method calls.

Survival of Bactericidal Antibiotic Treatment by a Persister Subpopulation of Listeria monocytogenes

DEFF Research Database (Denmark)

Knudsen, Gitte Maegaard; Ng, Yin; Gram, Lone

2013-01-01

Listeria monocytogenes can cause the serious infection listeriosis, which despite antibiotic treatment has a high mortality. Understanding the response of L. monocytogenes to antibiotic exposure is therefore important to ensure treatment success. Some bacteria survive antibiotic treatment...... by formation of persisters, which are a dormant antibiotic-tolerant subpopulation. The purpose of this study was to determine whether L. monocytogenes can form persisters and how bacterial physiology affects the number of persisters in the population. A stationary-phase culture of L. monocytogenes was adjusted...... that eradication of persisters is possible. Our study adds L. monocytogenes to the list of bacterial species capable of surviving bactericidal antibiotics in a dormant stage, and this persister phenomenon should be borne in mind when developing treatment regimens....

NH125 kills methicillin-resistant Staphylococcus aureus persisters by lipid bilayer disruption.

Science.gov (United States)

Kim, Wooseong; Fricke, Nico; Conery, Annie L; Fuchs, Beth Burgwyn; Rajamuthiah, Rajmohan; Jayamani, Elamparithi; Vlahovska, Petia M; Ausubel, Frederick M; Mylonakis, Eleftherios

2016-01-01

NH125, a known WalK inhibitor kills MRSA persisters. However, its precise mode of action is still unknown. The mode of action of NH125 was investigated by comparing its spectrum of antimicrobial activity and its effects on membrane permeability and giant unilamellar vesicles (GUVs) with walrycin B, a WalR inhibitor and benzyldimethylhexadecylammonium chloride (16-BAC), a cationic surfactant. NH125 killed persister cells of a variety of Staphylococcus aureus strains. Similar to 16-BAC, NH125 killed MRSA persisters by inducing rapid membrane permeabilization and caused the rupture of GUVs, whereas walrycin B did not kill MRSA persisters or induce membrane permeabilization and did not affect GUVs. NH125 kills MRSA persisters by interacting with and disrupting membranes in a detergent-like manner.

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

Science.gov (United States)

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

2012-12-01

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

Persistent Modelling

DEFF Research Database (Denmark)

2012-01-01

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

Persistent Modelling

DEFF Research Database (Denmark)

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

Persistent pain and sensory disturbances after treatment for breast cancer

DEFF Research Database (Denmark)

Mejdahl, Mathias Kvist; Andersen, Kenneth Geving; Gärtner, Rune

2013-01-01

To examine the development of persistent pain after treatment for breast cancer and to examine risk factors associated with continuing pain.......To examine the development of persistent pain after treatment for breast cancer and to examine risk factors associated with continuing pain....

Photocarcinogenesis and persistent hyperplasia in UV-irradiated SENCAR mouse skin

International Nuclear Information System (INIS)

Strickland, P.T.

1986-01-01

Susceptibility to photocarcinogenesis has been examined in several mouse strains and stocks including SENCAR, CD-1, BALB/c, C3H, C57Bl, and NZB. SENCAR mice are hypersusceptible to tumorigenesis caused by single high dose exposures to ultraviolet (UV) radiation but not by chronic low-dose exposures. SENCAR mice also exhibit an exaggerated and persistent epidermal hyperplasia in response to UV-induced tissue damage. The persistent hyperplasia is apparently due to a sustained proliferation of the epithelial basal cells, rather than to delayed cell differentiation. SENCAR mice did not exhibit persistent hyperplasia following other forms of tissue damage (surgical or thermal). In related studies, the levels of thymine dimers induced in SENCAR epidermis by UV radiation were comparable to those observed in BALB/c epidermis. In addition, no differences were found in the tissue distribution or persistence of thymine dimers in SENCAR and BALB/c skin

Persistent Notochord in a Fetus with COL2A1 Mutation

Directory of Open Access Journals (Sweden)

Elisabeth Codsi

2015-01-01

Full Text Available Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation. To our knowledge, this represents the first case of a persistent notochord associated with a COL2A1 mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.

The existence and persistence of long work hours

OpenAIRE

Drago, Robert William; Black, David; Wooden, Mark

2005-01-01

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

Persistence of, and interrelation between, horizontal and vertical technology alliances

NARCIS (Netherlands)

Belderbos, R.; Gilsing, V.A.; Lokshin, B.

2012-01-01

The authors explore to what extent there is persistence in, and interrelation between, alliance strategies with different partner types (customers, suppliers, competitors). In a panel data set of innovation-active firms in the Netherlands from 1996 to 2004, the authors find persistence in alliance

Persistent Breech Presentation in a Bicornuate Uterus: A Case Report

African Journals Online (AJOL)

We report a case of persistent breech presentation in a primigravida with bicornuate uterus that was initially diagnosed by early ultrasound scan. Persistent breech presentation later in the pregnancy necessitated an elective caesarean section at term. The diagnosis was confirmed intraoperatively by exteriorizing the uterus.

Study on microbial persistence in end-stage idiopathic dilated cardiomyopathy.

NARCIS (Netherlands)

Leeuw, N. de; Melchers, W.J.G.; Balk, A.H.M.M.; Jonge, N. de; Galama, J.M.D.

1999-01-01

Microbial persistence may be involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC). Therefore, we evaluated the role of various cardiopathogenic microorganisms in patients with end-stage IDC. In a previous study, we did not find evidence for the persistence of enterovirus RNA in

Near-total pancreatectomy for persistent hyperinsulinemic ...

African Journals Online (AJOL)

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

Endorectal magnetic resonance imaging in persistent hemospermia

International Nuclear Information System (INIS)

Prando, Adilson

2008-01-01

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

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)

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

Persistent current through a semiconductor quantum dot with Gaussian confinement

International Nuclear Information System (INIS)

Boyacioglu, Bahadir; Chatterjee, Ashok

2012-01-01

The persistent diamagnetic current in a GaAs quantum dot with Gaussian confinement is calculated. It is shown that except at very low temperature or at high temperature, the persistent current increases with decreasing temperature. It is also shown that as a function of the dot size, the diamagnetic current exhibits a maximum at a certain confinement length. It is furthermore shown that for a shallow potential, the persistent current shows an interesting maximum structure as a function of the depth of the potential. At low temperature, the peak structure is pretty sharp but becomes broader and broader with increasing temperature.

The effects of acute stress on the calibration of persistence.

Science.gov (United States)

Lempert, Karolina M; McGuire, Joseph T; Hazeltine, Danielle B; Phelps, Elizabeth A; Kable, Joseph W

2018-02-01

People frequently fail to wait for delayed rewards after choosing them. These preference reversals are sometimes thought to reflect self-control failure. Other times, however, continuing to wait for a delayed reward may be counterproductive (e.g., when reward timing uncertainty is high). Research has demonstrated that people can calibrate how long to wait for rewards in a given environment. Thus, the role of self-control might be to integrate information about the environment to flexibly adapt behavior, not merely to promote waiting. Here we tested effects of acute stress, which has been shown to tax control processes, on persistence, and the calibration of persistence, in young adult human participants. Half the participants (n = 60) performed a task in which persistence was optimal, and the other half (n = 60) performed a task in which it was optimal to quit waiting for reward soon after each trial began. Each participant completed the task either after cold pressor stress or no stress. Stress did not influence persistence or optimal calibration of persistence. Nevertheless, an exploratory analysis revealed an "inverted-U" relationship between cortisol increase and performance in the stress groups, suggesting that choosing the adaptive waiting policy may be facilitated with some stress and impaired with severe stress.

THE ROLE OF EARNINGS PERSISTENCE IN VALUATION ACCURACY AND THE TIME HORIZON

Directory of Open Access Journals (Sweden)

Renê Coppe Pimentel

2016-02-01

Full Text Available Based on the assumption that earnings persistence has implications for both financial analysis and compensation contracts, the aim of this paper is to investigate the role of earnings persistence assuming that (i more persistent earnings are likely to be a better input to valuation models and (ii more persistent earnings are likely to serve as a proxy for long-term market and managerial orientation. The analysis is based on Brazilian listed firms from 1995 to 2013, and while we document strong support for the relevance of earnings persistence in financial analysis and valuation, we fail to document a significant relationship between earnings persistence and long-term value orientation. These results are sensitive to different specifications, and additional results suggest that firms’ idiosyncratic risk (total risk is relevant to explain the focus on short-term outcomes (short-termism across firms. The main contribution of this paper is to offer empirical evidence for the relevance of accounting numbers in both valuation and contractual theories in an emergent market.

Viral Interference and Persistence in Mosquito-Borne Flaviviruses

Directory of Open Access Journals (Sweden)

Juan Santiago Salas-Benito

2015-01-01

Full Text Available Mosquito-borne flaviviruses are important pathogens for humans, and the detection of two or more flaviviruses cocirculating in the same geographic area has often been reported. However, the epidemiological impact remains to be determined. Mosquito-borne flaviviruses are primarily transmitted through Aedes and Culex mosquitoes; these viruses establish a life-long or persistent infection without apparent pathological effects. This establishment requires a balance between virus replication and the antiviral host response. Viral interference is a phenomenon whereby one virus inhibits the replication of other viruses, and this condition is frequently associated with persistent infections. Viral interference and persistent infection are determined by several factors, such as defective interfering particles, competition for cellular factors required for translation/replication, and the host antiviral response. The interaction between two flaviviruses typically results in viral interference, indicating that these viruses share common features during the replicative cycle in the vector. The potential mechanisms involved in these processes are reviewed here.

Persistent ectopic pregnancy after milking procedure: Case report

Directory of Open Access Journals (Sweden)

Semra Kayataş

2014-03-01

Full Text Available Ectopic pregnancy is the settlement of the pregnancy product at any site other than the endometrium. The incidence of ectopic pregnancy have increased in the last 20 years. Increased frequency and early diagnosis has led to conservative treatment methods to become more favorable. Follow-up, medical management and surgical managements are considered as conservative methods. As salpingostomy is the most common conservative surgical method, milking is considered as an alternative conservative surgical method. The most important complication of the conservative surgery is the persistence of ectopic pregnancy because of the residual trophoblastic tissue. Since the prediction of the persistent ectopic pregnancy is difficult after the conservative surgery, β-HCG follow up is so important for early diagnosis. In this case report we have discussed the case of the patient who admitted to our clinic with persistent ectopic pregnancy with acute abdomen, after the treatment with milking procedure whom than treated by salpingectomy procedure.

[Persistence of the primordial vitreous body and buphthalmos].

Science.gov (United States)

Cernea, P; Simionescu, C; Bosun, I

1995-01-01

Persistence of the hyperplasic primordial vitreous body is determined by a deletion of embryonal development of the vitreous body and of the hyaloid vascular system. Infant aged 3.5 years presents persistence of primordial vitreous body with crystalline dislocation in the camera aquosa and secondary buphthalmos of the left eye and microphthalmos with dislocation of the crystalline in the vitreous body of the right eye. At the back of the right eye we noticed a whitish mass, richly vascularized with vestiges from the hyaloid artery, but the posterior half of the vitreous cavity is filled with microscopic blood; the fibrovascular membrane is made of conjunctive tissue set in parallel layers and vessels with macrolipophagic degeneration. Microscopic investigation of retina reveals glial hyperplasia zones in the neighbourhood of the vitreous body. In the present paper the authors show the persistence of the primordial vitreous body in the left eye and bilateral dislocation of the crystalline, revealing multiple ocular malformations.

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.

Long persistence of rigor mortis at constant low temperature.

Science.gov (United States)

Varetto, Lorenzo; Curto, Ombretta

2005-01-06

We studied the persistence of rigor mortis by using physical manipulation. We tested the mobility of the knee on 146 corpses kept under refrigeration at Torino's city mortuary at a constant temperature of +4 degrees C. We found a persistence of complete rigor lasting for 10 days in all the cadavers we kept under observation; and in one case, rigor lasted for 16 days. Between the 11th and the 17th days, a progressively increasing number of corpses showed a change from complete into partial rigor (characterized by partial bending of the articulation). After the 17th day, all the remaining corpses showed partial rigor and in the two cadavers that were kept under observation "à outrance" we found the absolute resolution of rigor mortis occurred on the 28th day. Our results prove that it is possible to find a persistence of rigor mortis that is much longer than the expected when environmental conditions resemble average outdoor winter temperatures in temperate zones. Therefore, this datum must be considered when a corpse is found in those environmental conditions so that when estimating the time of death, we are not misled by the long persistence of rigor mortis.

Association of hypovitaminosis Dwith persistent non-specific musculoskeletal pains

International Nuclear Information System (INIS)

Alam, H.M.A.; Kamran, M.; Rehman, S.U.; Khan, D.A.; Hussain, K.

2017-01-01

The study was conducted in Pakistani population to find association of vitamin D deficiency with persistent non-specific musculoskeletal pains by comparing with pain free controls. Study Design: Case control study. Material and Methods: Patients aged 12 years or more presenting to Medical OPD with persistent nonspecific musculoskeletal pains for more than 3 months were selected as cases, while healthy individuals served as controls Results: A total of 60 cases (patients with persistent non-specific pains) presenting to medical outpatients department at Military Hospital Rawalpindi and 60 controls were studied. Mean age of cases was 43.9 +- 14.0 years and amongst controls were 33.2 +- 17.8 years. Mean serum vitamin D level of 32.8 nmol/L was reported in cases whereas mean serum vitamin D level amongst controls was 26.7 +- 17.8 nmol/L. Hypovitaminosis D amongst cases and controls was 86.6% and 95% respectively. The proportion of vitamin D deficiency did not differ significantly as compared to controls. There was non-significant difference in proportion of deficiency amongst cases and controls. Conclusion: Overall there was no association between persistent non-specific musculoskeletal pains and vitamin D deficiency. (author)

Eye Development Genes and Known Syndromes

Science.gov (United States)

Slavotinek, Anne M.

2011-01-01

Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33–95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, Oculocardiafaciodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6. PMID:22005280

Effect of exposure to low-dose γ radiation during late organogenesis in the mouse fetus

International Nuclear Information System (INIS)

Devi, P.U.; Baskar, R.; Hande, M.P.

1994-01-01

The adominal region of pregnant Swiss mice was exposed to 0.05 to 0.50 of γ radiation on day 11.5 postcoitus. The animals were sacrificed on day 18 gestation and the fetuses were examined for mortality, growth retardation, changes in head size and brain weight, and incidence of microphthalmia. No marked increase in fetal mortality or growth retardation was observed below 0.25 Gy; the increase in these parameters was significant only at 0.50 Gy. A significant reduction in head size and brain weight and a significant increase in the incidence of microphthalmia were observed at doses above 0.15 Gy. Detectable levels of microcephaly and microphthalmia were evident even at 0.10 Gy. A linear dose response was seen for these effects in the dose range of 0.05 to 0.15 Gy. It is concluded that the late period of organogenesis in the mouse, especially between days 10 and 12 postcoitus, is a particularly sensitive phase in the development of the skull, brain and eye. 21 refs., 4 figs., 4 tabs

A Clinical Drug Library Screen Identifies Tosufloxacin as Being Highly Active against Staphylococcus aureus Persisters

Directory of Open Access Journals (Sweden)

Hongxia Niu

2015-07-01

Full Text Available To identify effective compounds that are active against Staphylococcus aureus (S. aureus persisters, we screened a clinical drug library consisting of 1524 compounds and identified six drug candidates that had anti-persister activity: tosufloxacin, clinafloxacin, sarafloxacin, doxycycline, thiostrepton, and chlorosalicylanilide. Among them, tosufloxacin had the highest anti-persister activity, which could completely eradicate S. aureus persisters within 2 days in vitro. Clinafloxacin ranked the second with very few persisters surviving the drug exposure. Interestingly, we found that both tosufloxacin and trovafloxacin that had high activity against persisters contained at the N-1 position the 2,4-difluorophenyl group, which is absent in other less active quinolones and may be associated with the high anti-persister activity. Further studies are needed to evaluate tosufloxacin in animal models and to explain its unique activity against bacterial persisters. Our findings may have implications for improved treatment of persistent bacterial infections.

Persistency of atmospheric diffusion conditions in Angra dos Reis - Brazil

International Nuclear Information System (INIS)

Nicolli, D.

1981-12-01

Based on a 2 year observation period, the diffusion conditions at the Almirante Alvaro Alberto N.P.P. site, in Angra dos Reis, are analized with respect to persistency as a function of the wind direction, the Pasquill stability class and the time of the day. The Pasquill stability class relates to the bulk vertical temperature gradient measured between 2m and 50m in the atmosphere; the wind direction is measured at 50m height. The persistency is defined in this report as the probability that the wind direction will remain longer than a given time in a sector without change in the diffusion category by more than a certain stage. During the day the persistency is mostly affected by the sea breeze with predominance of the unstable and neutral categories. At night the stable categories dominate. The alternating sea and land breezes disturb daily the trade wind field resulting in low persistency of the diffusion conditions. (Author) [pt

Persistent Skin Reactions and Aluminium Hypersensitivity Induced by Childhood Vaccines.

Science.gov (United States)

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

2016-11-02

There is increasing awareness of reactions to vaccination that include persistent skin reactions. We present here a retrospective investigation of long-lasting skin reactions and aluminium hypersensitivity in children, based on medical records and questionnaires sent to the parents. In the 10-year period 2003 to 2013 we identified 47 children with persistent skin reactions caused by childhood vaccinations. Most patients had a typical presentation of persisting pruritic subcutaneous nodules. Five children had a complex diagnostic process involving paediatricians, orthopaedics and plastic surgeons. Two patients had skin biopsies performed from their skin lesions, and 2 patients had the nodules surgically removed. Forty-two children had a patch-test performed with 2% aluminium chloride hexahydrate in petrolatum and 39 of them (92%) had a positive reaction. The persistent skin reactions were treated with potent topical corticosteroids and disappeared slowly. Although we advised families to continue vaccination of their children, one-third of parents omitted or postponed further vaccinations.

Regional Persistent Organic Pollutants' Environmental Impact Assessment and Control Model

Directory of Open Access Journals (Sweden)

Jurgis Staniskis

2008-10-01

Full Text Available The sources of formation, environmental distribution and fate of persistent organic pollutants (POPs are increasingly seen as topics to be addressed and solved at the global scale. Therefore, there are already two international agreements concerning persistent organic pollutants: the Protocol of 1998 to the 1979 Convention on the Long-Range Transboundary Air Pollution on Persistent Organic Pollutants (Aarhus Protocol; and the Stockholm Convention on Persistent Organic Pollutants. For the assessment of environmental pollution of POPs, for the risk assessment, for the evaluation of new pollutants as potential candidates to be included in the POPs list of the Stokholmo or/and Aarhus Protocol, a set of different models are developed or under development. Multimedia models help describe and understand environmental processes leading to global contamination through POPs and actual risk to the environment and human health. However, there is a lack of the tools based on a systematic and integrated approach to POPs management difficulties in the region.

Genetic Screen Reveals the Role of Purine Metabolism in Staphylococcus aureus Persistence to Rifampicin

Directory of Open Access Journals (Sweden)

Rebecca Yee

2015-12-01

Full Text Available Chronic infections with Staphylococcus aureus such as septicemia, osteomyelitis, endocarditis, and biofilm infections are difficult to treat because of persisters. Despite many efforts in understanding bacterial persistence, the mechanisms of persister formation in S. aureus remain elusive. Here, we performed a genome-wide screen of a transposon mutant library to study the molecular mechanisms involved in persistence of community-acquired S. aureus. Screening of the library for mutants defective in persistence or tolerance to rifampicin revealed many genes involved in metabolic pathways that are important for antibiotic persistence. In particular, the identified mutants belonged to metabolic pathways involved in carbohydrate, amino acid, lipid, vitamin and purine biosynthesis. Five mutants played a role in purine biosynthesis and two mutants, purB, an adenylosuccinate lyase, and purM, a phosphoribosylaminoimidazole synthetase, were selected for further confirmation. Mutants purB and purM showed defective persistence compared to the parental strain USA300 in multiple stress conditions including various antibiotics, low pH, and heat stress. The defect in persistence was restored by complementation with the wildtype purB and purM gene in the respective mutants. These findings provide new insights into the mechanisms of persistence in S. aureus and provide novel therapeutic targets for developing more effective treatment for persistent infections due to S. aureus.

Early life innate immune signatures of persistent food allergy.

Science.gov (United States)

Neeland, Melanie R; Koplin, Jennifer J; Dang, Thanh D; Dharmage, Shyamali C; Tang, Mimi L; Prescott, Susan L; Saffery, Richard; Martino, David J; Allen, Katrina J

2017-11-14

Food allergy naturally resolves in a proportion of food-allergic children without intervention; however the underlying mechanisms governing the persistence or resolution of food allergy in childhood are not understood. This study aimed to define the innate immune profiles associated with egg allergy at age 1 year, determine the phenotypic changes that occur with the development of natural tolerance in childhood, and explore the relationship between early life innate immune function and serum vitamin D. This study used longitudinally collected PBMC samples from a population-based cohort of challenge-confirmed egg-allergic infants with either persistent or transient egg allergy outcomes in childhood to phenotype and quantify the functional innate immune response associated with clinical phenotypes of egg allergy. We show that infants with persistent egg allergy exhibit a unique innate immune signature, characterized by increased numbers of circulating monocytes and dendritic cells that produce more inflammatory cytokines both at baseline and following endotoxin exposure when compared with infants with transient egg allergy. Follow-up analysis revealed that this unique innate immune signature continues into childhood in those with persistent egg allergy and that increased serum vitamin D levels correlate with changes in innate immune profiles observed in children who developed natural tolerance to egg. Early life innate immune dysfunction may represent a key immunological driver and predictor of persistent food allergy in childhood. Serum vitamin D may play an immune-modulatory role in the development of natural tolerance. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Persistent marine debris

International Nuclear Information System (INIS)

Levy, E.M.

1992-01-01

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

Prophages and growth dynamics confound experimental results with antibiotic-tolerant persister cells

DEFF Research Database (Denmark)

Harms, Alexander; Fino, Cinzia; Sørensen, Michael Askvad

2017-01-01

the validity of our model of persister formation in a refined assay setup that uses robust culture conditions and unravels the dynamics of persister cells through all bacterial growth stages. Our results confirm the importance of (p)ppGpp and Lon but no longer support a role of TA modules in E. coli persister......) modules. This model found considerable support among researchers studying persisters but also generated controversy as part of recent debates in the field. In this study, we therefore used our previous work as a model to critically examine common experimental procedures to understand and overcome......-tolerant persisters via induction of cryptic prophages. Similarly, the inadvertent infection of mutant strains with bacteriophage φ80, a notorious laboratory contaminant, apparently caused several of the phenotypes that we reported in our previous studies. We therefore reconstructed all infected mutants and probed...

A proof-of-concept implementation of persistence in a hierarchical storage system

International Nuclear Information System (INIS)

Grossman, R.; Qin, Xiao; Lifka, D.

1992-01-01

The concept of providing transparent access to a collection of files in a mass storage system is a familiar one. The goal of this project was to investigate the feasibility of providing similar access to a collection of persistent, complex objects. We describe an architecture for interfacing a persistent store of complex objects to a hierarchical storage system. Persistent object stores support the uniform creation, storage, and access of complex objects, regardless of their lifetimes. In other words, a mechanism is provided so that persistent objects outlive the processes which create them and can be accessed in a uniform manner by other processes. We validated this architecture by implementing a proof-of-concept system and testing the system on two stores of data. These tests indicate that this architecture supports the creation. storage and access of very large persistent object stores

Foxp3+ regulatory T cells control persistence of viral CNS infection.

Directory of Open Access Journals (Sweden)

Dajana Reuter

Full Text Available We earlier established a model of a persistent viral CNS infection using two week old immunologically normal (genetically unmodified mice and recombinant measles virus (MV. Using this model infection we investigated the role of regulatory T cells (Tregs as regulators of the immune response in the brain, and assessed whether the persistent CNS infection can be modulated by manipulation of Tregs in the periphery. CD4(+ CD25(+ Foxp3(+ Tregs were expanded or depleted during the persistent phase of the CNS infection, and the consequences for the virus-specific immune response and the extent of persistent infection were analyzed. Virus-specific CD8(+ T cells predominantly recognising the H-2D(b-presented viral hemagglutinin epitope MV-H(22-30 (RIVINREHL were quantified in the brain by pentamer staining. Expansion of Tregs after intraperitoneal (i.p. application of the superagonistic anti-CD28 antibody D665 inducing transient immunosuppression caused increased virus replication and spread in the CNS. In contrast, depletion of Tregs using diphtheria toxin (DT in DEREG (depletion of regulatory T cells-mice induced an increase of virus-specific CD8(+ effector T cells in the brain and caused a reduction of the persistent infection. These data indicate that manipulation of Tregs in the periphery can be utilized to regulate virus persistence in the CNS.

Persistent insomnia: the role of objective short sleep duration and mental health.

Science.gov (United States)

Vgontzas, Alexandros N; Fernandez-Mendoza, Julio; Bixler, Edward O; Singareddy, Ravi; Shaffer, Michele L; Calhoun, Susan L; Liao, Duanping; Basta, Maria; Chrousos, George P

2012-01-01

Few population-based, longitudinal studies have examined risk factors for persistent insomnia, and the results are inconsistent. Furthermore, none of these studies have examined the role of polysomnographic (PSG) variables such as sleep duration or sleep apnea on the persistence of insomnia. Representative longitudinal study. Sleep laboratory. From a random, general population sample of 1741 individuals of the adult Penn State Cohort, 1395 were followed-up after 7.5 years. Individuals underwent one-night PSG and full medical evaluation at baseline and a telephone interview at follow-up. PSG sleep duration was analyzed as a continuous variable and as a categorical variable: insomnia persistence, partial remission, and full remission were 44.0%, 30.0%, and 26.0%, respectively. Objective short sleep duration significantly increased the odds of persistent insomnia as compared to normal sleep (OR = 3.19) and to fully remitted insomnia (OR = 4.92). Mental health problems at baseline were strongly associated with persistent insomnia as compared to normal sleep (OR = 9.67) and to a lesser degree compared to fully remitted insomnia (OR = 3.68). Smoking, caffeine, and alcohol consumption and sleep apnea did not predict persistent insomnia. Objective short sleep duration and mental health problems are the strongest predictors of persistent insomnia. These data further support the validity and clinical utility of objective short sleep duration as a novel marker of the biological severity of insomnia.

Increased serum concentrations of persistent organic pollutants among prediabetic individuals

DEFF Research Database (Denmark)

Færch, Kristine Villum; Højlund, Kurt; Vind, Birgitte Falbe

2012-01-01

There is a need for a better understanding of the potential role of persistent organic pollutants (POPs) in the pathogenesis of type 2 diabetes.......There is a need for a better understanding of the potential role of persistent organic pollutants (POPs) in the pathogenesis of type 2 diabetes....

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

Persistent producer-scrounger relationships in bats.

Science.gov (United States)

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

2018-02-01

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

Medical and sociodemographic factors predict persistent smoking after coronary events.

Science.gov (United States)

Sverre, Elise; Otterstad, Jan Erik; Gjertsen, Erik; Gullestad, Lars; Husebye, Einar; Dammen, Toril; Moum, Torbjørn; Munkhaugen, John

2017-09-06

Understanding the determinants of persistent smoking after a coronary event constitutes the basis of modelling interventions of smoking cessation in secondary prevention programs. We aim to identify the potentially modifiable medical, sociodemographic and psychosocial factors, comprising the study factors, associated with unfavourable risk factor control after CHD events. A cross-sectional explorative study used logistic regression analysis to investigate the association between study factors and smoking status in 1083 patients hospitalized with myocardial infarction and/or coronary revascularization. Hospital record data, a self-report questionnaire, clinical examination and blood samples were applied. At the index hospitalization, 390 patients were smoking and at follow-up after 2-36 months 167 (43%) of these had quit, while 230 reported persistent smoking. In adjusted analyses, unemployed or disability benefits (Odds ratio (OR) 4.1), low education (OR 3.5), longer smoking duration (OR 2.3) and not having ST-elevation myocardial infarction (STEMI) as index event (OR 2.3) were significantly associated with persistent smoking. Psychosocial factors at follow-up were not associated with persistent smoking. Smokers reported high motivation for cessation, with 68% wanting help to quit. Only 42% had been offered nicotine replacement therapy or other cessation aids. Smokers rated use of tobacco as the most important cause of their coronary disease (6.8 on a 1-10 Likert scale). Low socioeconomic status, prior duration of smoking, and not having STEMI as index event were associated with persisting smoking. Persistent smokers in this study seem to have an acceptable risk perception and were motivated to cease smoking, but needed assistance through cessation programs including prescription of pharmacological aids. Registered at ClinicalTrials.gov: NCT02309255 , registered retrospectively.

Non-nutritional factors affecting lactation persistency in dairy ewes: a review

Directory of Open Access Journals (Sweden)

Antonello Cannas

2010-01-01

Full Text Available Milk production is largely related to the shape of the lactation curve. Key elements of the lactation pattern are peak yield, which is the maximum daily yield reached during lactation, and lactation persistency, which is the medium rate of milk yield decrease after the lactation peak. The ideal lactation curve should have a reasonably high peak and a flat trend afterwards. A more persistent lactation is desirable because it is related to better animal health and reduction of feeding costs. Effective strategies to improve lactation persistency require a deep understanding of the main factors that affect this trait, including genetics, hormonal status and administration, udder morphology, seasonal changes, management, animal health (e.g. mastitis, stress and nutrition. This review covers the effects of non-nutritional factors on lactation persistency in dairy sheep.

Persistent Skin Reactions and Aluminium Hypersensitivity Induced by Childhood Vaccines

DEFF Research Database (Denmark)

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

2016-01-01

There is increasing awareness of reactions to vaccination that include persistent skin reactions. We present here a retrospective investigation of long-lasting skin reactions and aluminium hypersensitivity in children, based on medical records and questionnaires sent to the parents. In the 10-year...... period 2003 to 2013 we identified 47 children with persistent skin reactions caused by childhood vaccinations. Most patients had a typical presentation of persisting pruritic subcutaneous nodules. Five children had a complex diagnostic process involving paediatricians, orthopaedics and plastic surgeons...... treated with potent topical corticosteroids and disappeared slowly. Although we advised families to continue vaccination of their children, one-third of parents omitted or postponed further vaccinations....

PERSISTENCE IN PERFORMANCE FOR MUTUAL FUNDS IN PERIODS OF CRISIS

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Theodoros KARGIDIS

2012-09-01

Full Text Available The study investigates the persistence in performance for a sample of South European funds, domiciled in Portugal, Italy, Greece and Spain. Employing the Sharpe ratio, risk adjusted performance is measured in an attempt to judge the influence of the 2008 crisis and the current debt crisis on funds’ inclination to persist in their previous returns record. Examination period extends from January 2004 to December 2010 incorporating stages of relative stability in the stock and bond markets while also capturing the early stages of the eurozone crisis. We categorize funds as winners and losers in consecutive 6-monthly periods, thus being able to judge persistence in the short run, while our results suggest that the identification of winners and losers could enable us to investigate the possibility to gain investment advantages through this finding. Overall results suggest evidence of persistent results, whether positive or negative, both during the 2008 crisis and the current debt crisis, leading us to deduce that factors leading to performance persistence are not affected by market changes, since medium to long term persistence bypasses any temporary market mischief. This finding could be of use for fund managers aiming at establishing viable investment strategies, at their epicenter being the exploitation of such clues, suggesting persistence in returns. A fund of funds manager employing funds both in equities and fixed income could potentially choose to invest exclusively or more heavily in the winners of previous periods and avoid accordingly poor performers, thus achieving higher returns on average. For this purpose simple investment strategies are employed where we test the outcome of an investment strategy that would invest on fixed income securities by choosing those funds that were winners in the distribution of returns in the previous 6-monthly period, while disinvesting from poor performers and funds switching sides in performance

No Exit: Predicting Student Persistence. AIR 1990 Annual Forum Paper.

Science.gov (United States)

Beil, Cheryl; Shope, Janet H.

A longitudinal study was conducted to determine the factors influencing college student persistence in remaining in school. Persistence was examined at two points: after the first year and 4 years after enrollment. The study was conducted at an urban university using the American College Testing's Entering Student Survey and Student Opinion…

The relation between persistent coma and brain ischemia after severe brain injury.

Science.gov (United States)

Cheng, Quan; Jiang, Bing; Xi, Jian; Li, Zhen Yan; Liu, Jin Fang; Wang, Jun Yu

2013-12-01

To investigate the relation between brain ischemia and persistent vegetative state after severe traumatic brain injury. The 66 patients with severe brain injury were divided into two groups: The persistent coma group (coma duration ≥10 d) included 51 patients who had an admission Glasgow Coma Scale (GCS) of 5-8 and were unconscious for more than 10 d. There were 15 patients in the control group, their admission GCS was 5-8, and were unconscious for less than 10 d. The brain areas, including frontal, parietal, temporal, occipital lobes and thalamus, were measured by Single Photon Emission Computed Tomography (SPECT). In the first SPECT scan, multiple areas of cerebral ischemia were documented in all patients in both groups, whereas bilateral thalamic ischemia were presented in all patients in the persistent coma group and were absented in the control group. In the second SPECT scan taken during the period of analepsia, with an indication that unilateral thalamic ischemia were persisted in 28 of 41 patients in persistent coma group(28/41,68.29%). Persistent coma after severe brain injury is associated with bilateral thalamic ischemia.

Current strategies for non-pharmacological therapy of long-standing persistent atrial fibrillation

Directory of Open Access Journals (Sweden)

Teiichi Yamane, MD, PhD

2012-06-01

Full Text Available Non-pharmacological rhythm control of atrial fibrillation (AF is becoming increasingly important in our aging society. Advancement of catheter ablation techniques in the last decade has provided a cure for AF patients, with a nearly established efficiency for paroxysmal cases. However, since ablation of persistent/chronic AF cases is still challenging, early treatment of paroxysmal AF before transformation to the persistent/chronic form is mandatory. Although there is a consensus that pulmonary vein isolation is the first-line approach for ablation of long-standing persistent AF, similar to that for paroxysmal AF, there are still wide variations in the adjunctive approach to modify the atrial substrate of persistent AF (anatomical linear ablation, electrogram-based complex fractionated atrial electrogram ablation, ganglionated plexus ablation, etc.. Since data comparing the effectiveness of these adjunctive approaches are still lacking, large-scale controlled trials evaluating the effect of catheter ablation in diverse patient populations on a long-term basis are needed to establish the appropriate approach for long-standing persistent AF. Furthermore, the development of de novo ablation methods (new energies, new targets, etc. is expected to improve ablation outcome in patients with long-standing persistent AF.

Persistence of Overseeded Cool-Season Grasses in Bermudagrass Turf

OpenAIRE

Thomas Serensits; Matthew Cutulle; Jeffrey F. Derr

2011-01-01

Cool-season grass species are commonly overseeded into bermudagrass turf for winter color. When the overseeded grass persists beyond the spring; however, it becomes a weed. The ability of perennial ryegrass, Italian (annual) ryegrass, intermediate ryegrass, and hybrid bluegrass to persist in bermudagrass one year after seeding was determined. Perennial ryegrass, intermediate ryegrass, and Italian ryegrass produced acceptable ground cover in the spring after fall seeding. Hybrid bluegrass di...

Determination and Correction of Persistent Biases in Quantum Annealers

Science.gov (United States)

2016-08-25

for all of the qubits. Narrowing of the bias distribution. To show the correctability of the persistent biases , we ran the experiment described above...this is a promising application for bias correction . Importantly, while the J biases determined here are in general smaller than the h biases , numerical...1Scientific RepoRts | 6:18628 | DOI: 10.1038/srep18628 www.nature.com/scientificreports Determination and correction of persistent biases in quantum

Incidence and Risk Factors of Persistent Hyperparathyroidism After Kidney Transplantation.

Science.gov (United States)

Nakai, K; Fujii, H; Ishimura, T; Fujisawa, M; Nishi, S

Persistent hyperparathyroidism after kidney transplantation is related to graft function, but pre-transplantation risk factors of persistent hyperparathyroidism have not been evaluated in detail. We enrolled 86 patients who had undergone kidney transplantation between 2008 and 2014. Nine patients showed persistent hyperparathyroidism characterized by the following: 1) serum parathyroid hormone levels >65 pg/mL and serum calcium levels >10.5 mg/dL at 1 year after kidney transplantation; 2) parathyroidectomy after kidney transplantation; and 3) reintroduction of cinacalcet after kidney transplantation. Compared with other patients, these 9 patients had significantly longer duration of dialysis therapy (186 ± 74 mo vs 57 ± 78 mo) and more frequent treatment with cinacalcet during dialysis (89% vs 12%). Multivariate analysis showed that dialysis vintage, calcium phosphate products, and cinacalcet use before kidney transplantation were independent risk factors of persistent hyperparathyroidism after kidney transplantation. A receiver operating characteristic curve showed 72 months as the cutoff value of dialysis vintage and 55 as the cutoff value of calcium phosphate products. In conclusion, dialysis vintage >6 years, calcium phosphate products >55 (mg/dL) 2 , and cinacalcet use before kidney transplantation are strong predictors of persistent hyperparathyroidism. High-risk patients should be evaluated for parathyroid enlargement, and parathyroidectomy must be considered before kidney transplantation. Copyright © 2016 Elsevier Inc. All rights reserved.

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.)

Modelling the role of Tax expression in HTLV-I persistence in vivo.

Science.gov (United States)

Li, Michael Y; Lim, Aaron G

2011-12-01

Human T-lymphotropic virus type I (HTLV-I) is a persistent human retrovirus characterized by life-long infection and risk of developing HAM/TSP, a progressive neurological and inflammatory disease, and adult T-cell leukemia (ATL). Chronically infected individuals often harbor high proviral loads despite maintaining a persistently activated immune response. Based on a new hypothesis for the persistence of HTLV-I infection, a three-dimensional compartmental model is constructed that describes the dynamic interactions among latently infected target cells, target-cell activation, and immune responses to HTLV-I, with an emphasis on understanding the role of Tax expression in the persistence of HTLV-I.

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....

Low Socioeconomic Status Men Persisting in College: A Phenomenological Study

Science.gov (United States)

Crichton, Dusten D.

2017-01-01

The purpose of this phenomenological study was to explore and to tell the stories of low socioeconomic status (SES) men in college who persisted beyond the halfway point of college at a Midwestern metropolitan university. Prior research suggested men from low socioeconomic status backgrounds matriculated and persisted in college at the lowest…

Persistence of canine distemper virus in the Greater Yellowstone Ecosystem's carnivore community

Science.gov (United States)

Almberg, E.S.; Cross, P.C.; Smith, D.W.

2010-01-01

Canine distemper virus (CDV) is an acute, highly immunizing pathogen that should require high densities and large populations of hosts for long-term persistence, yet CDV persists among terrestrial carnivores with small, patchily distributed groups. We used CDV in the Greater Yellowstone ecosystem's (GYE) wolves (Canis lupus) and coyotes (Canis latrans) as a case study for exploring how metapopulation structure, host demographics, and multi-host transmission affect the critical community size and spatial scale required for CDV persistence. We illustrate how host spatial connectivity and demographic turnover interact to affect both local epidemic dynamics, such as the length and variation in inter-epidemic periods, and pathogen persistence using stochastic, spatially explicit susceptible-exposed-infectious-recovered simulation models. Given the apparent absence of other known persistence mechanisms (e.g., a carrier or environmental state, densely populated host, chronic infection, or a vector), we suggest that CDV requires either large spatial scales or multi-host transmission for persistence. Current GYE wolf populations are probably too small to support endemic CDV. Coyotes are a plausible reservoir host, but CDV would still require 50 000-100 000 individuals for moderate persistence (>50% over 10 years), which would equate to an area of 1-3 times the size of the GYE (60000-200000 km2). Coyotes, and carnivores in general, are not uniformly distributed; therefore, this is probably a gross underestimate of the spatial scale of CDV persistence. However, the presence of a second competent host species can greatly increase the probability of long-term CDV persistence at much smaller spatial scales. Although no management of CDV is currently recommended for the GYE, wolf managers in the region should expect periodic but unpredictable CDV-related population declines as often as every 2-5 years. Awareness and monitoring of such outbreaks will allow corresponding

Persistence of canine distemper virus in the Greater Yellowstone ecosystem's carnivore community.

Science.gov (United States)

Almberg, Emily S; Cross, Paul C; Smith, Douglas W

2010-10-01

Canine distemper virus (CDV) is an acute, highly immunizing pathogen that should require high densities and large populations of hosts for long-term persistence, yet CDV persists among terrestrial carnivores with small, patchily distributed groups. We used CDV in the Greater Yellowstone ecosystem's (GYE) wolves (Canis lupus) and coyotes (Canis latrans) as a case study for exploring how metapopulation structure, host demographics, and multi-host transmission affect the critical community size and spatial scale required for CDV persistence. We illustrate how host spatial connectivity and demographic turnover interact to affect both local epidemic dynamics, such as the length and variation in inter-epidemic periods, and pathogen persistence using stochastic, spatially explicit susceptible-exposed-infectious-recovered simulation models. Given the apparent absence of other known persistence mechanisms (e.g., a carrier or environmental state, densely populated host, chronic infection, or a vector), we suggest that CDV requires either large spatial scales or multi-host transmission for persistence. Current GYE wolf populations are probably too small to support endemic CDV. Coyotes are a plausible reservoir host, but CDV would still require 50000-100000 individuals for moderate persistence (> 50% over 10 years), which would equate to an area of 1-3 times the size of the GYE (60000-200000 km2). Coyotes, and carnivores in general, are not uniformly distributed; therefore, this is probably a gross underestimate of the spatial scale of CDV persistence. However, the presence of a second competent host species can greatly increase the probability of long-term CDV persistence at much smaller spatial scales. Although no management of CDV is currently recommended for the GYE, wolf managers in the region should expect periodic but unpredictable CDV-related population declines as often as every 2-5 years. Awareness and monitoring of such outbreaks will allow corresponding adjustments

Persistent flow and third-sound waves in the He-II film

International Nuclear Information System (INIS)

Verbeek, H.J.

1980-01-01

The author describes experiments performed on persistent film-flow in He-II film. Data obtained using the third-sound technique is presented. The experiments demonstrate unequivocally the reality of persistent currents in the He-II film. (Auth.)

Genes relacionados con microftalmia y anoftalmia hereditarias.

Science.gov (United States)

Matías-Pérez, Diana; García-Montalvo, Iván Antonio; Zenteno, Juan Carlos

2017-01-01

Congenital eye malformations are the second most common cause of childhood blindness and are originated by disruption of the normal process of eye development during embryonic stage. Their etiology is variable, although monogenic causes are of great importance as they have a high risk of familial recurrence. Included among the most severe congenital eye abnormalities are microphthalmia, defined by an abnormally small eye, and anophthalmia, characterized by congenital absence of ocular structures. The currrent knowledge of the genes involved in human microphthalmia and anophthalmia in humans is revised in this work. Copyright: © 2017 SecretarÍa de Salud.

A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism

DEFF Research Database (Denmark)

Christesen, Henrik Thybo; Brusgaard, Klaus; Ditkovskaya, L

A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism.......A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism....

20 Years of persistent identifiers - Which systems are here to stay?

Science.gov (United States)

Klump, Jens; Huber, Robert; Lehnert, Kerstin

2016-04-01

Web-based persistent identifiers have been around for more than 20 years, a period long enough to start observing patterns of success and failure. Persistent identifiers were invented to address challenges arising from the distributed and disorganised nature of the internet, which not only allowed new technologies to emerge, it also made it difficult to maintain a persistent record of science. Persistent identifiers now allow unambiguous identification of resources on the net. The expectations were that persistent identifiers would lead to greater accessibility, transparency and reproducibility of research results. Over the past two decades a number of persistent identifier systems have been built, one of them being Digital Object Identifiers (DOI). While DOI were originally invented by the publishing industry, they quickly became an established way for the identification of research resources. At first, these resources referred to scholarly literature and related resources. Other identifier systems, some of them using DOI as an example, were developed as grass-roots efforts by the scientific community. The concept of using persistent identifiers has since been expanded to other, non-textual resources, like datasets (DOI, EPIC) and geological specimens (IGSN), and more recently to authors and contributors of scholarly works (ORCID), and to software and instruments. A common witticism states that "a great thing about standards is that there are so many to choose from." Setting up identifier systems is technically trivial. The real challenge lies in creating a governance system for the respective identifiers. Which systems will stand the test of time? Drawing on data from the Registry of Research Data Repositories (re3data.org) and our own experience in the field, this presentation looks at the history and adoption of existing identifier systems and how this gives us some indications towards factors influencing sustainability of these systems.

Impact of selection and demography on the diffusion of lactase persistence.

Science.gov (United States)

Gerbault, Pascale; Moret, Céline; Currat, Mathias; Sanchez-Mazas, Alicia

2009-07-24

The lactase enzyme allows lactose digestion in fresh milk. Its activity strongly decreases after the weaning phase in most humans, but persists at a high frequency in Europe and some nomadic populations. Two hypotheses are usually proposed to explain the particular distribution of the lactase persistence phenotype. The gene-culture coevolution hypothesis supposes a nutritional advantage of lactose digestion in pastoral populations. The calcium assimilation hypothesis suggests that carriers of the lactase persistence allele(s) (LCT*P) are favoured in high-latitude regions, where sunshine is insufficient to allow accurate vitamin-D synthesis. In this work, we test the validity of these two hypotheses on a large worldwide dataset of lactase persistence frequencies by using several complementary approaches. We first analyse the distribution of lactase persistence in various continents in relation to geographic variation, pastoralism levels, and the genetic patterns observed for other independent polymorphisms. Then we use computer simulations and a large database of archaeological dates for the introduction of domestication to explore the evolution of these frequencies in Europe according to different demographic scenarios and selection intensities. Our results show that gene-culture coevolution is a likely hypothesis in Africa as high LCT*P frequencies are preferentially found in pastoral populations. In Europe, we show that population history played an important role in the diffusion of lactase persistence over the continent. Moreover, selection pressure on lactase persistence has been very high in the North-western part of the continent, by contrast to the South-eastern part where genetic drift alone can explain the observed frequencies. This selection pressure increasing with latitude is highly compatible with the calcium assimilation hypothesis while the gene-culture coevolution hypothesis cannot be ruled out if a positively selected lactase gene was carried at

Impact of selection and demography on the diffusion of lactase persistence.

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Pascale Gerbault

Full Text Available BACKGROUND: The lactase enzyme allows lactose digestion in fresh milk. Its activity strongly decreases after the weaning phase in most humans, but persists at a high frequency in Europe and some nomadic populations. Two hypotheses are usually proposed to explain the particular distribution of the lactase persistence phenotype. The gene-culture coevolution hypothesis supposes a nutritional advantage of lactose digestion in pastoral populations. The calcium assimilation hypothesis suggests that carriers of the lactase persistence allele(s (LCT*P are favoured in high-latitude regions, where sunshine is insufficient to allow accurate vitamin-D synthesis. In this work, we test the validity of these two hypotheses on a large worldwide dataset of lactase persistence frequencies by using several complementary approaches. METHODOLOGY: We first analyse the distribution of lactase persistence in various continents in relation to geographic variation, pastoralism levels, and the genetic patterns observed for other independent polymorphisms. Then we use computer simulations and a large database of archaeological dates for the introduction of domestication to explore the evolution of these frequencies in Europe according to different demographic scenarios and selection intensities. CONCLUSIONS: Our results show that gene-culture coevolution is a likely hypothesis in Africa as high LCT*P frequencies are preferentially found in pastoral populations. In Europe, we show that population history played an important role in the diffusion of lactase persistence over the continent. Moreover, selection pressure on lactase persistence has been very high in the North-western part of the continent, by contrast to the South-eastern part where genetic drift alone can explain the observed frequencies. This selection pressure increasing with latitude is highly compatible with the calcium assimilation hypothesis while the gene-culture coevolution hypothesis cannot be ruled out

Culture or No Culture? A Latino Critical Research Analysis of Latino Persistence Research

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Gonzalez, Roger Geertz; Morrison, Jeaná

2016-01-01

The recent literature on Latino persistence does not take into account these students' distinct cultural backgrounds. Most researchers of Latino persistence use the self-designation "Latino" as a proxy variable representing Latino culture. A Latino Critical Theory (LatCrit) lens is applied to the persistence literature to demonstrate the…

Persistent postpartum haemorrhage after failed arterial ligation: value of pelvic embolisation

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Fargeaudou, Yann; Soyer, Philippe; Sirol, Marc; Boudiaf, Mourad; Dahan, Henri; Dref, Olivier le [Hopital Lariboisiere AP-HP et Universite Diderot-Paris 7, Department of Abdominal and Interventional Imaging, Paris (France); Morel, Olivier; Barranger, Emmanuel [Hopital Lariboisiere AP-HP, Department of Obstetrics and Gynecology, Paris (France); Gayat, Etienne; Mebazaa, Alexandre [Hopital Lariboisiere AP-HP, Department of Anesthesiology and Intensive Care Medicine, Paris (France)

2010-07-15

To evaluate the role and efficacy of pelvic embolisation in the treatment of persistent postpartum haemorrhage after failed arterial ligation and to identify the complications of this procedure in this specific population. The clinical files and angiographic examinations of 12 consecutive women (mean age 32 years) who were treated with pelvic embolisation because of persistent, severe postpartum haemorrhage after failed arterial ligation were reviewed. Angiography revealed that persistent bleeding was due to incomplete arterial ligation (n = 4) or the presence of newly developed anastomotic routes (n = 8). In 11 women, pelvic embolisation stopped the bleeding. Hysterectomy was needed in one woman with retained placenta. Two complications due to pelvic embolisation, including leg ischaemia and transient sciatic nerve ischaemia, were identified, both after internal iliac artery ligation. In women with persistent postpartum haemorrhage after failed arterial ligation, pelvic embolisation is an effective treatment in most cases. However, embolisation of the anastomotic routes that contribute to persistent bleeding may result in ischaemic complications. These potential complications reaffirm that arterial ligation should not be the favoured option for postpartum haemorrhage and that special care must be given during pelvic embolisation after failed arterial ligation. (orig.)

Work factors as predictors of persistent fatigue: a prospective study of nurses' aides.

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Eriksen, W

2006-06-01

To identify work factors that predict persistent fatigue in nurses' aides. The sample comprised 5547 Norwegian nurses' aides, not on leave when they completed a mailed questionnaire in 1999. Of these, 4645 (83.7%) completed a second questionnaire 15 months later. The outcome measure was the occurrence of persistent fatigue, defined as having felt "usually fatigued" or "always fatigued" in daytime during the previous 14 days. In respondents without persistent fatigue at baseline, medium and high work demands, heavy smoking, being single, and having long term health problems were associated with increased risk of persistent fatigue at follow up. Medium and high rewards for well done work, medium levels of leadership fairness, and regular physical exercise were associated with reduced risk of persistent fatigue at follow up. In respondents with persistent fatigue at baseline, medium and high levels of positive challenges at work, high support from immediate superior, medium feedback about quality of one's work, and changes of work or work tasks that resulted in less heavy work or lower work pace were associated with increased odds of recovery (no persistent fatigue at follow up). Working in a nursing home and being intensely bothered by long term health problems were associated with reduced odds of recovery. High demands and lack of rewards at work may cause persistent fatigue in nurses' aides. Reduction of demands, adequate feedback, and mental stimulation in the form of support and positive challenges may facilitate recovery in those who have persistent fatigue. Leaders in the health services may be in a position to regulate factors that influence the level of fatigue in nurses' aides.

Persistent hemifacial spasm after microvascular decompression: a risk assessment model.

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Shah, Aalap; Horowitz, Michael

2017-06-01

Microvascular decompression (MVD) for hemifacial spasm (HFS) provides resolution of disabling symptoms such as eyelid twitching and muscle contractions of the entire hemiface. The primary aim of this study was to evaluate the predictive value of patient demographics and spasm characteristics on long-term outcomes, with or without intraoperative lateral spread response (LSR) as an additional variable in a risk assessment model. A retrospective study was undertaken to evaluate the associations of pre-operative patient characteristics, as well as intraoperative LSR and need for a staged procedure on the presence of persistent or recurrent HFS at the time of hospital discharge and at follow-up. A risk assessment model was constructed with the inclusion of six clinically or statistically significant variables from the univariate analyses. A receiving operator characteristic curve was generated, and area under the curve was calculated to determine the strength of the predictive model. A risk assessment model was first created consisting of significant pre-operative variables (Model 1) (age >50, female gender, history of botulinum toxin use, platysma muscle involvement). This model demonstrated borderline predictive value for persistent spasm at discharge (AUC .60; p=.045) and fair predictive value at follow-up (AUC .75; p=.001). Intraoperative variables (e.g. LSR persistence) demonstrated little additive value (Model 2) (AUC .67). Patients with a higher risk score (three or greater) demonstrated greater odds of persistent HFS at the time of discharge (OR 1.5 [95%CI 1.16-1.97]; p=.035), as well as greater odds of persistent or recurrent spasm at the time of follow-up (OR 3.0 [95%CI 1.52-5.95]; p=.002) Conclusions: A risk assessment model consisting of pre-operative clinical characteristics is useful in prognosticating HFS persistence at follow-up.

Great Expectations: The Persistent Effect of Institutions on Culture

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Litina, Anastasia

2014-01-01

This research exploits the event of immigration to establish that institutions have a persistent effect on culture. It is argued that immigrants coming from corrupt countries, tend to overtrust the institutions at the host country. This inflated trust of immigrants is documented as the Great Expectations effect. This result is interesting and intriguing for several reasons. First, it highlights the persistent effect of institutions (at the origin coun- try) on the cultural attitudes of immigr...

Persistence motives in irrational decisions to complete a boring task.

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Halkjelsvik, Torleif; Rise, Jostein

2015-01-01

We explored a novel task paradigm where participants from the online work marketplace Amazon Mechanical Turk were given the choice to quit or continue an unfinished boring task for identical economic rewards. In Studies 1a and 1b, about half the participants chose to continue (corresponding to an average of 55 and 35 cents in foregone earnings). Participants' self-reported reasons for continuing involved various types of persistence motives, reflecting a desire to persist or complete per se. Studies 2, 3a, 3b, and 3c ruled out the possibility that people continued because they enjoyed the task or believed there were additional rewards for continuing. Study 4 showed that the choice to quit/continue was associated with the manner in which the choice was presented (persistence test vs. decision-making test) and individual differences in dispositional persistence motives. The present data indicate that motivational forces independent of the focal reward may affect intertemporal decisions. © 2014 by the Society for Personality and Social Psychology, Inc.

Persistent hyperlactacidaemia: about a clinical case.

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

2013-05-22

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

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.

Persistent Aerial Tracking system for UAVs

KAUST Repository

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

2016-01-01

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