Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.

Science.gov (United States)

Dickinson, Joanne L; Sale, Michèle M; Passmore, Abraham; FitzGerald, Liesel M; Wheatley, Catherine M; Burdon, Kathryn P; Craig, Jamie E; Tengtrisorn, Supaporn; Carden, Susan M; Maclean, Hector; Mackey, David A

2006-01-01

To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X-linked familial exudative vitreoretinopathy (FEVR), Coat's disease and retinopathy of prematurity (ROP). A dataset comprising 13 Norrie-FEVR, one Coat's disease, 31 ROP patients and 90 ex-premature babies of Norrie disease patients. Furthermore, a previously described 14-bp deletion located in the 5' unstranslated region of the NDP gene was detected in three cases of regressed ROP. A second heterozygotic 14-bp deletion was detected in an unaffected ex-premature girl. Only two of the 13 Norrie-FEVR index cases had the full features of Norrie disease with deafness and mental retardation. Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. A deletion within the non-coding region was associated with only mild-regressed ROP, despite the presence of low birthweight, prematurity and exposure to oxygen. In full-term children with retinal detachment only 15% appear to have the full features of Norrie disease and this is important for counselling parents on the possible long-term outcome.

Prenatal exclusion of Norrie disease with flanking DNA markers.

Science.gov (United States)

Gal, A; Uhlhaas, S; Glaser, D; Grimm, T

1988-10-01

Three polymorphic DNA markers linked to the locus of Norrie disease were used for indirect genotype analysis in a ten-wk-old fetus at risk for the disease. When haplotypes of the family members and the estimated recombination frequency between Norrie gene and each of the DNA marker loci DXS7, DXS84, and DXS146 were taken into account, the risk that the fetus had inherited the mutation was about 1%.

[Norrie syndrome: identification of carriers by segregation analysis with flanking DNA markers].

Science.gov (United States)

Körner, J; Uhlhaas, S; Neugebauer, M; Gal, A

1989-01-01

Norrie disease is an X-linked recessive disorder. Affected males present with congenital blindness. Additionally, hearing loss and psychotic behavior may occur at any time. Since carriers are clinically healthy, they can only be identified by genetic means. Daughters of carriers or sisters of affected males have an à priori 50% risk of being carriers themselves. Close linkage has been found between the Norrie disease locus (NDP) and the DNA locus DXS7 mapped to Xp11.3. For genetic counselling, this linkage relationship allows carriers of the disease to be identified in informative families. We describe a large pedigree with Norrie disease. Segregation analysis was carried out with DXS7 and a second flanking marker, DXS255, both linked to NDP. In this way, three females at risk were identified who had a high probability of being carriers for Norrie disease.

Norrie disease in a family with a manifesting female carrier.

Science.gov (United States)

Sims, K B; Irvine, A R; Good, W V

1997-04-01

To show that Norrie disease can occur in a girl and to describe her ophthalmologic and genetic features. Amplification of DNA polymerase chain reaction and sequencing of asymmetric polymerase chain reaction for exon 3 were performed on the blood specimen obtained from a girl born with bilateral retinal detachments. A female child with bilateral retinal detachment who had 2 uncles in whom Norrie disease had already been diagnosed. The child had a mutation in the third exon (T776-->A; Ile 123-->Asn) identical to the mutation found in her uncles. Norrie disease can occur in girls. The most likely explanation is nonrandom or unfavorable X inactivation, although timing of development of the peripheral retina and its blood supply could render it vulnerable to effects of the mutant allele at a critical developmental phase.

Finanční analýza PENNY Market, s.r.o.

OpenAIRE

Šubrt, Jan

2015-01-01

This bachelor's thesis deals with financial analysis of Penny Market, s.r.o. in the period of 2011-2014. The work consists of two parts. The theoretical part is devoted to the core of financial analysis, its users, methods and individual ratio indicators. The practical part focuses on presentation of company Penny Market, s.r.o. and then on financial analysis itself. The analysis is based on horizontal and vertical analysis of financial statements and on calculation of profitability, liquidit...

A novel missense Norrie disease mutation associated with a severe ocular phenotype.

Science.gov (United States)

Khan, Arif O; Shamsi, Farrukh A; Al-Saif, Amr; Kambouris, Marios

2004-01-01

Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.

Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis.

Science.gov (United States)

Chow, Clement C; Kiernan, Daniel F; Chau, Felix Y; Blair, Michael P; Ticho, Benjamin H; Galasso, John M; Shapiro, Michael J

2010-12-01

To report the first case of prophylactic laser treatment to prevent blindness in a patient who was diagnosed with Norrie's disease by genetic testing with amniocentesis. Case report. A 2-year-old white boy with Norrie's disease. A 37-week gestational age male with a family history of Norrie's disease was born via Cesarean section after the mother had undergone prenatal amniocentesis fetal-genetic testing at 23 weeks of gestation. A C520T (nonsense) mutation was found in the Norrie's disease gene. After examination under anesthesia confirmed the diagnosis on the first day of life, laser photocoagulation was applied to the avascular retina bilaterally. The patient was followed closely by ophthalmology, pediatrics, and occupational therapy departments. Functional outcome, as documented by Teller visual acuity and formal occupational therapy testing, and anatomic outcome, as documented by Retcam photography and fluorescein angiography. Complete regression of extraretinal fibrovascular proliferation was observed 1 month after laser treatment. No retinal detachment had occurred to date at 24 months. Teller visual acuity at 23 months of life was 20/100 in both eyes. The patient's vision and developmental milestones were age appropriate. Pre-term genetic diagnosis with immediate laser treatment after birth may preserve vision in individuals affected with Norrie's disease. Copyright © 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

[Norrie-Wardburg syndrome].

Science.gov (United States)

Skevas, A; Kastanioudakis, I; Daniilidis, B; Exarchakos, G

1992-10-01

We describe a case of a 25-year old patient with typical Norrie-Warburg Syndrome. From the first year of his life he was found to be blind, with bilateral sensorineural loss of hearing. Audiological examination showed symmetrical moderate bilateral sensorineural hearing loss. His hearing loss was refractory to treatment for the last eight years. Because of timely diagnosis of hearing loss and timely fitting of a hearing aid, the patient could study at school and graduate from university education. Disease carriers who are clinically healthy can be identified only via chromosome analysis.

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.

Science.gov (United States)

Joos, K M; Kimura, A E; Vandenburgh, K; Bartley, J A; Stone, E M

1994-12-01

To diagnose the carriers and noncarriers in a family affected with Norrie disease based on molecular analysis. Family members from three generations, including one affected patient, two obligate carriers, one carrier identified with linkage analysis, one noncarrier identified with linkage analysis, and one female family member with indeterminate carrier status, were examined clinically and electrophysiologically. Linkage analysis had previously failed to determine the carrier status of one female family member in the third generation. Blood samples were screened for mutations in the Norrie disease gene with single-strand conformation polymorphism analysis. The mutation was characterized by dideoxy-termination sequencing. Ophthalmoscopy and electroretinographic examination failed to detect the carrier state. The affected individuals and carriers in this family were found to have a transition from thymidine to cytosine in the first nucleotide of codon 39 of the Norrie disease gene, causing a cysteine-to-arginine mutation. Single-strand conformation polymorphism analysis identified a patient of indeterminate status (by linkage) to be a noncarrier of Norrie disease. Ophthalmoscopy and electroretinography could not identify carriers of this Norrie disease mutation. Single-strand conformation polymorphism analysis was more sensitive and specific than linkage analysis in identifying carriers in this family.

Familial cases of Norrie disease detected by copy number analysis.

Science.gov (United States)

Arai, Eisuke; Fujimaki, Takuro; Yanagawa, Ai; Fujiki, Keiko; Yokoyama, Toshiyuki; Okumura, Akihisa; Shimizu, Toshiaki; Murakami, Akira

2014-09-01

Norrie disease (ND, MIM#310600) is an X-linked disorder characterized by severe vitreoretinal dysplasia at birth. We report the results of causative NDP gene analysis in three male siblings with Norrie disease and describe the associated phenotypes. Three brothers with suspected Norrie disease and their mother presented for clinical examination. After obtaining informed consent, DNA was extracted from the peripheral blood of the proband, one of his brothers and his unaffected mother. Exons 1-3 of the NDP gene were amplified by polymerase chain reaction (PCR), and direct sequencing was performed. Multiplex ligation-dependent probe amplification (MLPA) was also performed to search for copy number variants in the NDP gene. The clinical findings of the three brothers included no light perception, corneal opacity, shallow anterior chamber, leukocoria, total retinal detachment and mental retardation. Exon 2 of the NDP gene was not amplified in the proband and one brother, even when the PCR primers for exon 2 were changed, whereas the other two exons showed no mutations by direct sequencing. MLPA analysis showed deletion of exon 2 of the NDP gene in the proband and one brother, while there was only one copy of exon 2 in the mother. Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis. To localize the defect, confirmation of copy number variation by the MLPA method was useful in the present study.

Presentación de un paciente con enfermedad de Norrie

OpenAIRE

Santana Hernández, Elayne Esther; Tamayo Chang, Víctor Jesús; Marrero Infante, Juan Miguel; Márquez Ibáñez, Nilson; Artigas Cuenca, Arianne

2013-01-01

La enfermedad de Norrie es un raro trastorno genético ligado al cromosoma X que afecta principalmente a los ojos y casi siempre conduce a la ceguera. Además de los síntomas oculares congénitos, algunos pacientes sufren una pérdida progresiva de la audición sobre todo a partir de su segunda década de vida, mientras que otros afectados pueden tener problemas mentales. Los pacientes con la enfermedad de Norrie pueden desarrollar cataratas y leucocoria, junto con otras afecciones de desarrollo en...

Recombinational event between Norrie disease and DXS7 loci.

Science.gov (United States)

Ngo, J T; Spence, M A; Cortessis, V; Sparkes, R S; Bateman, J B

1988-07-01

We have identified a family affected with X-linked recessive Norrie disease, in which a recombinational event occurred between the disease locus and the DXS7 locus identified by the probe L1.28. The addition of our family brings the total of published informative families to seven, with a maximum lod score of 7.58 at a recombination frequency of 0.038 +/- 0.036. This finding indicates that the L1.28 probe is useful but may not be completely reliable for prenatal diagnosis and that the gene for Norrie disease is not within the DNA sequence identified by the L1.28 probe.

Further linkage data on Norrie disease.

Science.gov (United States)

Kivlin, J D; Sanborn, G E; Wright, E; Cannon, L; Carey, J

1987-03-01

We obtained a LOD score of +1.61 using DNA marker L1.28 in 5 generations of a family with Norrie disease, raising the total LOD score to +5.42. There have been no recombinations between the 2 loci in any family to date, making the marker useful for genetic counseling.

Norrie disease resulting from a gene deletion: clinical features and DNA studies.

OpenAIRE

Donnai, D; Mountford, R C; Read, A P

1988-01-01

We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.

Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Science.gov (United States)

Donnai, D; Mountford, R C; Read, A P

1988-02-01

We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.

Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report.

Science.gov (United States)

Jacques, Denis; Dubois, Thomas; Zdanowicz, Nicolas; Gilain, Chantal; Garin, Pierre

2017-09-01

It is important to perform psychiatric assessments of adult patients who are candidates for cochlear implants both to screen them for psychiatric disorders and to assess their understanding and compliance with the procedure. Deafness is a factor of difficulty for conducting in-depth psychiatric interviews, but concomitant blindness may make it impossible. After a description of Norrie disease, a rare disease in which blindness and deafness may occur together, we propose a case report of a patient suffering from the disease and who consulted in view of a cochlear implant. Early information on cochlear implants appears to be necessary before total deafness occurs in patients suffering from Norrie disease. An inventory of digital communication tools that can be used by the patient is also highly valuable. Research should be supported for a more systematic use of psychiatric assessments prior to cochlear implants. In the special case of Norrie disease, we recommend early screening for mental retardation and related psychotic disorders and, depending on the patient's level of understanding, preventive information on the benefits and limits of cochlear implants before total deafness occurs.

Localization of the Norrie disease gene mRNA by in situ hybridization.

Science.gov (United States)

Hartzer, M K; Cheng, M; Liu, X; Shastry, B S

1999-07-15

Norrie disease is a rare X-linked recessive neurodevelopmental disorder. The affected males manifest congenital blindness, which is often associated with hearing loss, mental retardation and psychiatric problems. Genetic linkage studies have localized the gene to the short arm of the X-chromosome and the gene has been isolated recently. The encoded protein is a member of the superfamily of growth factors containing a cystine knot motif and may be involved in cell adhesion and neurodevelopment. Molecular genetic analysis revealed a large number of missense, nonsense, deletion, and splice-site mutations among Norrie patients. In order to further determine the role of the Norrie disease gene, we studied the distribution pattern of its mRNA in the retina and in brain by in situ hybridization. The results show abundant hybridization signals in outer nuclear, inner nuclear, and ganglion cell layers of the retina in all three species (mice, rabbit, and human) examined. There was no significant expression in the vitreous body, lens, and rod outer segment. High expression levels were also observed in the cerebellar granular layer, hippocampus, olfactory bulb, cortex, and epithelium of the rabbit brain. These data suggest that the Norrie disease gene could play a critical role in the differentiation or maintenance of the differentiated state of the retina.

Isolated Norrie disease in a female caused by a balanced translocation t(X,6).

Science.gov (United States)

Meire, F M; Lafaut, B A; Speleman, F; Hanssens, M

1998-12-01

This is the second report of Norrie disease in a female patient with a de-novo balanced translocation t(X,6) with breakpoint at the location of the Norrie gene. At the age of 3 months, a girl was referred for suspected congenital glaucoma. The right eye was microphthalmic and ultrasonography was compatible with persistent hyperplasia of the primary vitreous. The left eye was also microphthalmic. The left cornea was larger than the right. The anterior chamber was virtual and leukocoria was evident. The eye felt hard digitally. Ultrasonography indicated an organized retinal detachment. The pathologic findings are reported and are compatible with Norrie disease.

[Norrie syndrome (author's transl)].

Science.gov (United States)

Schmitz-Valckenberg, P; Scholz, W

1977-10-01

The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.

Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

Science.gov (United States)

Pettenati, M J; Rao, P N; Weaver, R G; Thomas, I T; McMahan, M R

1993-03-01

We report on a 4-generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion.

Norrie disease and exudative vitreoretinopathy in families with affected female carriers.

Science.gov (United States)

Shastry, B S; Hiraoka, M; Trese, D C; Trese, M T

1999-01-01

Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness, which is often associated with sensorineural hearing loss and mental retardation. X-linked familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina and is not associated with systemic diseases. X-linked recessive disorders generally do not affect females. Here we show that female carriers can be associated with manifestation of an X-linked disorder. A four-generation family with an affected female, and a history of congenital blindness and hearing loss, was identified through the pro-band. A second family, with a full-term female infant, was evaluated through ophthalmic examinations and found to exhibit ocular features, such as retinal folds, retinal detachment and peripheral exudates. Peripheral blood specimens were collected from several affected and unaffected family members. DNA was extracted and analyzed by single-strand conformation polymorphism (SSCP) following polymerase chain reaction (PCR) amplification of the exons of the Norrie disease gene. The amplified products were sequenced by the dideoxy chain termination method. In an X-linked four-generation family, a novel missense (A118D) mutation in the third exon of the Norrie disease gene, was identified. The mutation was transmitted through three generations and cosegregated with the disease. The affected maternal grandmother and the unaffected mother carried the same mutation in one of their alleles. In an unrelated sporadic family, a heterozygous missense mutation (C96Y) was identified in the third exon of the Norrie disease gene in an affected individual. Analysis of exon-1 and 2 of the Norrie disease gene did not reveal any additional sequence alterations in these families. The mutations were not detected in the unaffected family members and the 116 normal unrelated controls, suggesting that they are likely to be the pathogenic mutations

Retinoschisislike alterations in the mouse eye caused by gene targeting of the Norrie disease gene.

Science.gov (United States)

Ruether, K; van de Pol, D; Jaissle, G; Berger, W; Tornow, R P; Zrenner, E

1997-03-01

To investigate the retinal function and morphology of mice carrying a replacement mutation in exon 2 of the Norrie disease gene. Recently, Norrie disease mutant mice have been generated using gene targeting technology. The mutation removes the 56 N-terminal amino acids of the Norrie gene product. Ganzfeld electroretinograms (ERGs) were obtained in five animals hemizygous or homozygous for the mutant gene and in three female animals heterozygous for the mutant gene. As controls, three males carrying the wild-type gene were examined. Electroretinogram testing included rod a- and b-wave V-log I functions, oscillatory potentials, and cone responses. The fundus morphology has been visualized by scanning laser ophthalmoscopy. Rod and cone ERG responses and fundus morphology were not significantly different among female heterozygotes and wild-type mice. In contrast, the hemizygous mice displayed a severe loss of ERG b-wave, leading to a negatively shaped scotopic ERG and a marked reduction of oscillatory potentials. The a-wave was normal at low intensities, and only with brighter flashes was there a moderate amplitude loss. Cone amplitudes were barely recordable in the gene-targeted males. Ophthalmoscopy revealed snowflakelike vitreal changes, retinoschisis, and pigment epithelium irregularities in hemizygotes and homozygotes, but no changes in female heterozygotes. The negatively shaped scotopic ERG in male mice with a Norrie disease gene mutation probably was caused by retinoschisis. Pigment epithelial changes and degenerations of the outer retina are relatively mild. These findings may be a clue to the embryonal retinoschisislike pathogenesis of Norrie disease in humans or it may indicate a different expression of the Norrie disease gene defect in mice compared to that in humans.

Meyer, Prof. Kurt H.

Indian Academy of Sciences (India)

Home; Fellowship. Fellow Profile. Elected: 1952 Honorary. Meyer, Prof. Kurt H. Date of birth: 29 September 1883. Date of death: 14 April 1952. YouTube; Twitter; Facebook; Blog. Academy News. IAS Logo. 29th Mid-year meeting. Posted on 19 January 2018. The 29th Mid-year meeting of the Academy will be held from ...

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

Science.gov (United States)

Ghosh, Manju; Sharma, Shipra; Shastri, Shivaram; Arora, Sadhna; Shukla, Rashmi; Gupta, Neerja; Deka, Deepika; Kabra, Madhulika

2012-11-01

Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.

Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.

Science.gov (United States)

Joy, J E; Poglod, R; Murphy, D L; Sims, K B; de la Chapelle, A; Sankila, E M; Norio, R; Merril, C R

1991-01-01

Norrie disease is an X-linked recessive disorder characterized by congenital blindness and, in many cases, mental retardation. Some Norrie disease cases have been shown to be associated with a submicroscopic deletion in chromosomal region Xp11.3. Cerebrospinal fluid (CSF) was collected from four male patients with an X-chromosomal deletion associated with Norrie disease. CSF proteins were resolved using two-dimensional gel electrophoresis and then analyzed by computer using the Elsie V program. Our analysis revealed a protein that appears to be altered in patients with Norrie disease deletion.

[Analysis of gene mutation in a Chinese family with Norrie disease].

Science.gov (United States)

Zhang, Tian-xiao; Zhao, Xiu-li; Hua, Rui; Zhang, Jin-song; Zhang, Xue

2012-09-01

To detect the pathogenic mutation in a Chinese family with Norrie disease. Clinical diagnosis was based on familial history, clinical sign and B ultrasonic examination. Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease. Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method. Two coding exons and all intron-exon boundaries of the NDP gene were PCR amplified using three pairs of primers and subjected to automatic DNA sequence. The causative mutation was confirmed by restriction enzyme analysis and genotyping analysis in all members. Sequence analysis of NDP gene revealed a missense mutation c.220C > T (p.Arg74Cys) in the proband and his mother. Further mutation identification by restriction enzyme analysis and genotyping analysis showed that the proband was homozygote of this mutation. His mother and other four unaffected members (III3, IV4, III5 and II2) were carriers of this mutation. The mutant amino acid located in the C-terminal cystine knot-like domain, which was critical motif for the structure and function of NDP. A NDP missense mutation was identified in a Chinese family with Norrie disease.

Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

Science.gov (United States)

Wu, Li Hong; Chen, Li-Hong; Xie, Hongning; Xie, Ying-Jun

2017-06-01

We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22 +1 and 31 +4 gestational weeks, but at 36 +5 gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.

Meyer's dysplasia epiphysealis

International Nuclear Information System (INIS)

Toro P, Alvaro de Jesus; Lopez C, Meisser A

2005-01-01

The skeletal dysplasias are a group of heterogeneous conditions since the clinical and genetic point of view, that to date they are about 200 different disorders. They have as common denominator an inconvenience of the normal process of growth and development of the bony weaving and their cartilaginous precursors. In this article the case of an adolescent of 16 years is presented with Meyer's dysplasia epiphysealis whose diagnostic was delayed and that as opposed to the cases reported in the literature required surgical treatment due to the persistent symptoms, and the literature is reviewed

Pigeons ("Columba Livia") Approach Nash Equilibrium in Experimental Matching Pennies Competitions

Science.gov (United States)

Sanabria, Federico; Thrailkill, Eric

2009-01-01

The game of Matching Pennies (MP), a simplified version of the more popular Rock, Papers, Scissors, schematically represents competitions between organisms with incentives to predict each other's behavior. Optimal performance in iterated MP competitions involves the production of random choice patterns and the detection of nonrandomness in the…

Die problematisering van die etiese: Deon Meyer se Infanta as ...

African Journals Online (AJOL)

Unlike the majority of earlier Afrikaans crime novels, Meyer's work relates to the American hard-boiled tradition rather than the British tradition of genteel detective fiction. It is when Meyer's novel is read in the context of the traditional characteristics of the genre that it emerges in a surprising way how the novel not only ...

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.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease

OpenAIRE

Liu, Deyuan; Hu, Zhengmao; Peng, Yu; Yu, Changhong; Liu, Yalan; Mo, Xiaoyun; Li, Xiaoping; Lu, Lina; Xu, Xiaojuan; Su, Wei; Pan, Qian; Xia, Kun

2010-01-01

Purpose Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, ...

[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].

Science.gov (United States)

Mei, Libin; Huang, Yanru; Pan, Qian; Liang, Desheng; Wu, Lingqian

2015-05-01

The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features. Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions. A hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals. The missense mutation c.362G > A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.

A rare case of short stature: Say Meyer syndrome

OpenAIRE

Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

2013-01-01

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

17 CFR 240.3a51-1 - Definition of “penny stock”.

Science.gov (United States)

2010-04-01

...), including hybrid products and derivative securities products, the national securities exchange or registered... 17 Commodity and Securities Exchanges 3 2010-04-01 2010-04-01 false Definition of âpenny stockâ. 240.3a51-1 Section 240.3a51-1 Commodity and Securities Exchanges SECURITIES AND EXCHANGE COMMISSION...

Norrie disease: extraocular clinical manifestations in 56 patients.

Science.gov (United States)

Smith, Sharon E; Mullen, Thomas E; Graham, Dionne; Sims, Katherine B; Rehm, Heidi L

2012-08-01

Norrie disease (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and cognitive impairment. The ocular phenotype has been well described, while the extraocular manifestations of the disorder are not well understood. We present the data from the Norrie Disease Registry, which consists of 56 patients with detailed clinical histories and genotype data. This study represents the largest, detailed investigation into the phenotypic spectrum of ND to date and more importantly expands knowledge of the extraocular clinical manifestations. We identify several novel aspects of the syndrome that will improve the management of these patients. In particular, we expand our understanding of the neurologic manifestations in ND and identify a chronic seizure disorder in approximately 10% of all patients. In addition, details of the hearing phenotype are described including the median age of onset (12 years of age) and how genotype affects onset. Moreover, we find vascular disease to be a significant component of ND; and vascular health should be, in the future, a component of patient clinical care. In summary, the results expand our understanding of the phenotypic variability and genotypic heterogeneity in ND patients. Copyright © 2012 Wiley Periodicals, Inc.

Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice.

Science.gov (United States)

Wollmann, Guido; Lenzner, Steffen; Berger, Wolfgang; Rosenthal, Rita; Karl, Mike O; Strauss, Olaf

2006-03-01

We studied electrophysiological properties of cultured retinal pigment epithelial (RPE) cells from mouse and a mouse model for Norrie disease. Wild-type RPE cells revealed the expression of ion channels known from other species: delayed-rectifier K(+) channels composed of Kv1.3 subunits, inward rectifier K(+) channels, Ca(V)1.3 L-type Ca(2+) channels and outwardly rectifying Cl(-) channels. Expression pattern and the ion channel characteristics current density, blocker sensitivity, kinetics and voltage-dependence were compared in cells from wild-type and Norrie mice. Although no significant differences were observed, our study provides a base for future studies on ion channel function and dysfunction in transgenic mouse models.

Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction.

Science.gov (United States)

Luhmann, Ulrich F O; Meunier, Dominique; Shi, Wei; Lüttges, Angela; Pfarrer, Christiane; Fundele, Reinald; Berger, Wolfgang

2005-08-01

Mutations in the Norrie disease pseudoglioma gene (NDP) are known to cause X-linked recessive Norrie disease. In addition, NDP mutations have been found in other vasoproliferative retinopathies such as familial exudative vitreoretinopathy, retinopathy of prematurity, and Coats disease, suggesting a role for Norrin in vascular development. Here we report that female mice homozygous for the Norrie disease pseudoglioma homolog (Ndph) knockout allele exhibit almost complete infertility, while heterozygous females and hemizygous males are fertile. Histological examinations and RNA in situ hybridization analyses revealed defects in vascular development and decidualization in pregnant Ndph-/- females from embryonic day 7 (E7) onwards, resulting in embryonic loss. Using RT-PCR analyses we also demonstrate, for the first time, the expression of Ndph in mouse uteri and deciduae as well as the expression of NDP in human placenta. Taken together, these data provide strong evidence for Norrin playing an important role in female reproductive tissues. Copyright 2005 Wiley-Liss, Inc

A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.

Science.gov (United States)

Parzefall, Thomas; Lucas, Trevor; Ritter, Markus; Ludwig, Martin; Ramsebner, Reinhard; Frohne, Alexandra; Schöfer, Christian; Hengstschläger, Markus; Frei, Klemens

2014-01-01

Norrie disease is a rare, X-linked genetic syndrome characterized by combined congenital blindness and progressive hearing impairment. Norrie disease is caused by alterations in the NDP gene encoding the growth factor norrin that plays a key role in vascular development and stabilization of the eye, inner ear and brain. We identified a family with 3 affected deafblind males and a single female carrier presenting with a serous retinal detachment but normal hearing. Genetic analysis revealed a novel c.277T>C missense mutation causing the substitution of a hydrophobic cysteine to a hydrophilic arginine [p.(Cys93Arg)] within the highly conserved cysteine knot domain of the norrin protein. These results should expand the scope for amniocentesis and genetic testing for Norrie disease which is gaining in importance due to novel postnatal therapeutic concepts to alleviate the devastating retinal symptoms of Norrie disease. © 2014 S. Karger AG, Basel.

Elucidation of Molecular Pathogenic Mechanisms of Norrie Disease

OpenAIRE

Luhmann, Ulrich F.O.

2010-01-01

Summary Norrie disease (ND) is a rare X-linked recessive congenital blindness, sometimes associated with deafness and mental retardation. In this thesis the molecular pathogenic mechanisms of this syndrome should be elucidated using the Ndph knockout mouse model. Gene expression studies but also histology and protein biochemistry were used to characterize the affected organs, eye and brain. Gene expression analyses of eyes at p21 using cDNA subtrac...

17 CFR 240.15g-6 - Account statements for penny stock customers.

Science.gov (United States)

2010-04-01

... stock customers. 240.15g-6 Section 240.15g-6 Commodity and Securities Exchanges SECURITIES AND EXCHANGE... § 240.15g-6 Account statements for penny stock customers. (a) Requirement. It shall be unlawful for any broker or dealer that has effected the sale to any customer, other than in a transaction that is exempt...

Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.

Science.gov (United States)

Kondo, Hiroyuki; Qin, Minghui; Kusaka, Shunji; Tahira, Tomoko; Hasebe, Haruyuki; Hayashi, Hideyuki; Uchio, Eiichi; Hayashi, Kenshi

2007-03-01

To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members. The clinical symptoms and signs in the patients with mutations were assessed. X-inactivation in the female carriers was examined in three FEVR families by using leukocyte DNA. Four novel mutations-I18K, K54N, R115L, and IVS2-1G-->A-and one reported mutation, R97P, in the NDP gene were identified in six families. The severity of vitreoretinopathy varied among these patients. Three probands with either K54N or R115L had typical features of FEVR, whereas the proband with R97P had those of ND. Families with IVS2-1G-->A exhibited either ND or FEVR characteristics. A proband with I18K presented with significant phenotypic heterogeneity between the two eyes. In addition, affected female carriers in a family harboring the K54N mutation presented with different degrees of vascular abnormalities in the periphery of the retina. X-inactivation profiles indicated that the skewing was not significantly different between affected and unaffected women. These observations indicate that mutations of the NDP gene can cause ND and 6% of FEVR cases in the Japanese population. The X-inactivation assay with leukocytes may not be predictive of the presence of a mutation in affected female carriers.

The Architect as Producer: Hannes Meyer and the Proletarianisation of the Western Architect

Directory of Open Access Journals (Sweden)

Amir Djalali

2015-12-01

Full Text Available With the foundation of the Bauhaus, Walter Gropius advocated an end to the division between arts and crafts. Contrary to the idea of architecture as art, the programme of the school aimed to assimilate architecture with industry in order to satisfy collective social needs. Yet, despite this programmatic declaration, such a project was realised only after Gropius’ departure from the Bauhaus, under the controversial directorship (1927–1930 of the Swiss architect Hannes Meyer. Meyer achieved unprecedented success both in terms of academic production and financial performance. Yet his realisations were paralleled by the leftist radicalisation of the school’s politics: Meyer transformed the workshops into factory production units and the students into industrial workers. Eventually, the politicisation of the school cost Meyer his office and a negative reputation in historical records that still holds today. This article posits that Meyer achieved his success at the Bauhaus not despite his radical allegiance, but precisely because of it. The realism of Meyer’s strategy is evaluated through his capacity to anticipate many developments in the organisation of architectural production. In particular, his critique of intellectual labour in architecture is confronted with the contemporary proletarisation of architects in the Western world.

Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome.

Science.gov (United States)

Bleeker-Wagemakers, E M; Zweije-Hofman, I; Gal, A

1988-11-01

A 15-year-old male patient with the typical ocular symptoms of Norrie disease is described. Additionally, he presents severe mental retardation, growth disturbances, hypogonadism, and increased susceptibility to infections. This complex syndrome is apparently segregating through three generations: four other male relatives of the patient were blind from birth and died from recurrent infections between the ages of three to 15 months. The DNA sequence of the DXS7 locus (L1.28 probe), known to be closely linked to the Norrie gene, was not found in the patient's DNA. This result suggests that the more complex clinical picture seen is the result of a deletion of the X chromosome spanning DXS7, the Norrie gene, and several neighbouring loci. A detailed clinical description of the patient is given and compared to that of similar cases.

Norrie disease. Diagnosis of a simplex case by DNA analysis.

Science.gov (United States)

Chynn, E W; Walton, D S; Hahn, L B; Dryja, T P

1996-09-01

Norrie disease is a rare, X-linked recessive disorder characterized by congenital blindness due to malformed retinas. We describe a simplex patient who had leukokoria and whose clinical diagnosis was confirmed only after molecular genetics analysis. DNA analysis was also used to determine the carrier status of relatives of the proband.

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

Science.gov (United States)

Shastry, B S; Hejtmancik, J F; Trese, M T

1997-01-01

X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and the vitreous body. It is characterized by an abnormal vascularization of the peripheral retina. It has been previously shown by linkage and candidate gene analysis that XLFEVR and Norrie disease are allelic. In this report we describe four novel mutations (R41K, H42R, K58N, and Y120C) in the Norrie disease gene associated with one X-linked and four sporadic cases of FEVR. One mutation (H42R) was found to be segregating with the disease in three generations (X-linked family), and the others are sporadic. These sequence alterations changed the encoded amino acids in the Norrie disease protein and were not found in 17 unaffected family members or in 36 randomly selected normal individuals. This study provides additional evidence that mutations in the same gene can result in FEVR and Norrie disease. It also demonstrates that it may be beneficial for clinical diagnosis to screen for mutations in the Norrie disease gene in sporadic FEVR cases.

Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).

Science.gov (United States)

Battinelli, E M; Boyd, Y; Craig, I W; Breakefield, X O; Chen, Z Y

1996-02-01

Norrie disease is a severe X-linked recessive neurological disorder characterized by congenital blindness with progressive loss of hearing. Over half of Norrie patients also manifest different degrees of mental retardation. The gene for Norrie disease (NDP) has recently been cloned and characterized. With the human NDP cDNA, mouse genomic phage libraries were screened for the homolog of the gene. Comparison between mouse and human genomic DNA blots hybridized with the NDP cDNA, as well as analysis of phage clones, shows that the mouse NDP gene is 29 kb in size (28 kb for the human gene). The organization in the two species is very similar. Both have three exons with similar-sized introns and identical exon-intron boundaries between exon 2 and 3. The mouse open reading frame is 393 bp and, like the human coding sequence, is encoded in exons 2 and 3. The absence of six nucleotides in the second mouse exon results in the encoded protein being two amino acids smaller than its human counterpart. The overall homology between the human and mouse NDP protein is 95% and is particularly high (99%) in exon 3, consistent with the apparent functional importance of this region. Analysis of transcription initiation sites suggests the presence of multiple start sites associated with expression of the mouse NDP gene. Pedigree analysis of an interspecific mouse backcross localizes the mouse NDP gene close to Maoa in the conserved segment, which runs from CYBB to PFC in both human and mouse.

Preparation of Semiconducting Materials in the Laboratory, Part 3: The One-Penny Photovoltaic Cell

Science.gov (United States)

Ibanez, Jorge G.; Finck-Pastrana, Adolfo; Mugica-Barrera, Alejandra; Balderas-Hernandez, Patricia; Ibarguengoitia-Cervantes, Martha E.; Garcia-Pintor, Elizabeth; Hartasanchez-Frenk, Jose Miguel; Bonilla-Jaurez, Cesar E.; Maldonado-Cordero, Casandra; Struck-Garza, Adelwart; Suberbie-Rocha, Felipe

2011-01-01

Copper(I) oxide photoresponsive layers are prepared on copper surfaces (e.g., U.S. pre-1982 pennies) by simple thermal, chemical, and electrochemical procedures. An easily measurable photovoltage (up to 100 mV) is obtained in each case under visible light illumination. (Contains 2 figures.)

Current-voltage characteristics of C70 solid near Meyer-Neldel temperature

Science.gov (United States)

Onishi, Koichi; Sezaimaru, Kouki; Nakashima, Fumihiro; Sun, Yong; Kirimoto, Kenta; Sakaino, Masamichi; Kanemitsu, Shigeru

2017-06-01

The current-voltage characteristics of the C70 solid with hexagonal closed-packed structures were measured in the temperature range of 250-450 K. The current-voltage characteristics can be described as a temporary expedient by a cubic polynomial of the voltage, i = a v 3 + b v 2 + c v + d . Moreover, the Meyer-Neldel temperature of the C70 solid was confirmed to be 310 K, at which a linear relationship between the current and voltage was observed. Also, at temperatures below the Meyer-Neldel temperature, the current increases with increasing voltage. On the other hand, at temperatures above the Meyer-Neldel temperature a negative differential conductivity effect was observed at high voltage side. The negative differential conductivity was related to the electric field and temperature effects on the mobility of charge carrier, which involve two variations in the carrier concentration and the activation energy for carrier hopping transport.

Norris Bradbury Tribute by J. Robert Oppenheimer

Energy Technology Data Exchange (ETDEWEB)

Meade, Roger Allen [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

2017-04-27

Stored on a reel of microfilm are three faint and barely readable letters written on the occasion of Norris Bradbury’s fifteen-year anniversary as Director of the (then) Los Alamos Science Laboratory. The first letter, written by Los Alamos Public Relations Officer John V. Young, asks Oppenheimer to send a “congratulatory message to be read at a ceremony honoring Bradbury’s tenure as Laboratory Director. The second letter is Oppenheimer’s response to Young, and the third is Oppenheimer’s congratulatory message to Bradbury. The three letters are transcribed below.

NDP gene mutations in 14 French families with Norrie disease.

Science.gov (United States)

Royer, Ghislaine; Hanein, Sylvain; Raclin, Valérie; Gigarel, Nadine; Rozet, Jean-Michel; Munnich, Arnold; Steffann, Julie; Dufier, Jean-Louis; Kaplan, Josseline; Bonnefont, Jean-Paul

2003-12-01

Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a series of 21 families fulfilling inclusion criteria. Two alterations were intragenic deletions and eight were nucleotide substitutions or splicing variants, six of them being hitherto unreported, namely c.112C>T (p.Arg38Cys), c.129C>G (p.His43Gln), c.133G>A (p.Val45Met), c.268C>T (p.Arg90Cys), c.382T>C (p.Cys128Arg), c.23479-1G>C (unknown). No NDP gene sequence variant was found in seven of the 21 families. This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype. Copyright 2003 Wiley-Liss, Inc.

A rare case of short stature: Say Meyer syndrome.

Science.gov (United States)

Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

2013-10-01

Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice.

Science.gov (United States)

Ohlmann, Andreas; Scholz, Michael; Goldwich, Andreas; Chauhan, Bharesh K; Hudl, Kristiane; Ohlmann, Anne V; Zrenner, Eberhart; Berger, Wolfgang; Cvekl, Ales; Seeliger, Mathias W; Tamm, Ernst R

2005-02-16

Norrie disease is an X-linked retinal dysplasia that presents with congenital blindness, sensorineural deafness, and mental retardation. Norrin, the protein product of the Norrie disease gene (NDP), is a secreted protein of unknown biochemical function. Norrie disease (Ndp(y/-)) mutant mice that are deficient in norrin develop blindness, show a distinct failure in retinal angiogenesis, and completely lack the deep capillary layers of the retina. We show here that the transgenic expression of ectopic norrin under control of a lens-specific promoter restores the formation of a normal retinal vascular network in Ndp(y/-) mutant mice. The improvement in structure correlates with restoration of neuronal function in the retina. In addition, lenses of transgenic mice with ectopic expression of norrin show significantly more capillaries in the hyaloid vasculature that surrounds the lens during development. In vitro, lenses of transgenic mice in coculture with microvascular endothelial cells induce proliferation of the cells. Transgenic mice with ectopic expression of norrin show more bromodeoxyuridine-labeled retinal progenitor cells at embryonic day 14.5 and thicker retinas at postnatal life than wild-type littermates, indicating a putative direct neurotrophic effect of norrin. These data provide direct evidence that norrin induces growth of ocular capillaries and that pharmacologic modulation of norrin might be used for treatment of the vascular abnormalities associated with Norrie disease or other vascular disorders of the retina.

Evaluation of the norrie disease gene in a family with incontinentia pigmenti.

Science.gov (United States)

Shastry, B S; Trese, M T

2000-01-01

Incontinentia pigmenti (IP) is an ectodermal multisystem disorder which can affect dental, ocular, cardiac and neurologic structures. The ocular changes of IP can have a very similar appearance to the retinal detachment of X-linked familial exudative vitreoretinopathy, which has been shown to be caused by the mutations in the Norrie disease gene. Therefore, it is of interest to determine whether similar mutations in the gene can account for the retinal pathology in patients with IP. To test our hypothesis, we have analyzed the entire Norrie disease gene for a family with IP, by single strand conformational polymorphism followed by DNA sequencing. The sequencing data revealed no disease-specific sequence alterations. These data suggest that ocular findings of IP are perhaps associated with different genes and there is no direct relationship between the genotype and phenotype. Copyright 2000 S. Karger AG, Basel

Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.

Science.gov (United States)

McNeill, Brian; Mazerolle, Chantal; Bassett, Erin A; Mears, Alan J; Ringuette, Randy; Lagali, Pamela; Picketts, David J; Paes, Kim; Rice, Dennis; Wallace, Valerie A

2013-03-01

Norrie disease (ND) is a congenital disorder characterized by retinal hypovascularization and cognitive delay. ND has been linked to mutations in 'Norrie Disease Protein' (Ndp), which encodes the secreted protein Norrin. Norrin functions as a secreted angiogenic factor, although its role in neural development has not been assessed. Here, we show that Ndp expression is initiated in retinal progenitors in response to Hedgehog (Hh) signaling, which induces Gli2 binding to the Ndp promoter. Using a combination of genetic epistasis and acute RNAi-knockdown approaches, we show that Ndp is required downstream of Hh activation to induce retinal progenitor proliferation in the retina. Strikingly, Ndp regulates the rate of cell-cycle re-entry and not cell-cycle kinetics, thereby uncoupling the self-renewal and cell-cycle progression functions of Hh. Taken together, we have uncovered a cell autonomous function for Ndp in retinal progenitor proliferation that is independent of its function in the retinal vasculature, which could explain the neural defects associated with ND.

'Tipping the Balance': Karl Friedrich Meyer, Latent Infections, and the Birth of Modern Ideas of Disease Ecology.

Science.gov (United States)

Honigsbaum, Mark

2016-04-01

The Swiss-born medical researcher Karl Friedrich Meyer (1884-1974) is best known as a 'microbe hunter' who pioneered investigations into diseases at the intersection of animal and human health in California in the 1920s and 1930s. In particular, historians have singled out Meyer's 1931 Ludwig Hektoen Lecture in which he described the animal kingdom as a 'reservoir of disease' as a forerunner of 'one medicine' approaches to emerging zoonoses. In so doing, however, historians risk overlooking Meyer's other intellectual contributions. Developed in a series of papers from the mid-1930s onwards, these were ordered around the concept of latent infections and sought to link microbial behavior to broader bio-ecological, environmental, and social factors that impact hostpathogen interactions. In this respect Meyer-like the comparative pathologist Theobald Smith and the immunologist Frank Macfarlane Burnet-can be seen as a pioneer of modern ideas of disease ecology. However, while Burnet's and Smith's contributions to this scientific field have been widely acknowledged, Meyer's have been largely ignored. Drawing on Meyer's published writings and private correspondence, this paper aims to correct that lacuna while contributing to a reorientation of the historiography of bacteriological epidemiology. In particular I trace Meyer's intellectual exchanges with Smith, Burnet and the animal ecologist Charles Elton, over brucellosis, psittacosis and plague-exchanges that not only showed how environmental and ecological conditions could 'tip the balance' in favor of parasites but which transformed Meyer thinking about resistance to infection and disease.

Philip Meyer, o outsider que criou o Jornalismo de Precisão

Directory of Open Access Journals (Sweden)

Marília Gehrke

2017-05-01

Full Text Available A importância da trajetória de Philip Meyer para os estudos de jornalismo é o ponto principal desta entrevista. Ele é o criador do Jornalismo de Precisão, conceito que aproxima o jornalismo da ciência por meio de métodos científicos sociais, e que, também, dá nome a um de seus livros, publicado pela primeira vez em 1973. Ainda que o Jornalismo de Precisão não demande, necessariamente, o uso de computadores, Meyer começou a trabalhar com as máquinas antes de sua popularização, nos protestos de Detroit, em 1967, depois de passar nove meses na Universidade de Harvard. Utilizando amostra na narrativa jornalística, Meyer e a equipe do jornal Detroit Free Press receberam um Prêmio Pulitzer um ano depois. O Jornalismo de Precisão ainda é um conceito utilizado, mas hoje mais associado ao jornalismo de dados. Nessa entrevista, respondida por email, Meyer não só relembra aspectos de sua carreira e fala sobre a prática jornalística, como o uso de dados, transparência e hipótese, bem como revela suas percepções sobre o futuro do jornalismo.

Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.

Science.gov (United States)

Yang, Huiqin; Li, Shiqiang; Xiao, Xueshan; Guo, Xiangming; Zhang, Qingjiong

2012-08-01

To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes. Of the 44 patients, mutation in FZD4, LRP5, and TSPAN12 was excluded in 38 patients with FEVR in previous study. Sanger sequencing was used to analyze the 2 coding exons and their adjacent regions of NDP in the 44 patients. Clinical data were presented for patients with mutation. NDP variants in 5 of the 6 patients with Norrie disease were identified, including a novel missense mutation (c.164G>A, p.Cys55Phe) in one patient, two known missense mutations (c.122G>A, p.Arg41Lys; c.220C>T, p.Arg74Cys) in two patients, and a gross deletion encompassing the two coding exons in two patients. Of the 5 patients, 3 had a family history and 2 were singleton cases. No mutation in NDP was detected in the 38 patients with FEVR. NDP mutations are common cause of Norrie disease but might be rare cause for FEVR in Chinese.

Isolation of a candidate gene for Norrie disease by positional cloning

NARCIS (Netherlands)

Berger, W.; Meindl, A.; van de Pol, T. J.; Cremers, F. P.; Ropers, H. H.; Döerner, C.; Monaco, A.; Bergen, A. A.; Lebo, R.; Warburg, M.

1992-01-01

The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a 640 kilobases (kb) insert which spans the

Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature.

Science.gov (United States)

Luhmann, Ulrich F O; Lin, Jihong; Acar, Niyazi; Lammel, Stefanie; Feil, Silke; Grimm, Christian; Seeliger, Mathias W; Hammes, Hans-Peter; Berger, Wolfgang

2005-09-01

To characterize developmental defects and the time course of Norrie disease in retinal and hyaloid vasculature during retinal development and to identify underlying molecular angiogenic pathways that may be affected in Norrie disease, exudative vitreoretinopathy, retinopathy of prematurity, and Coats' disease. Norrie disease pseudoglioma homologue (Ndph)-knockout mice were studied during retinal development at early postnatal (p) stages (p5, p10, p15, and p21). Histologic techniques, quantitative RT-PCR, ELISA, and Western blot analyses provided molecular data, and scanning laser ophthalmoscopy (SLO) angiography and electroretinography (ERG) were used to obtain in vivo data. The data showed that regression of the hyaloid vasculature of Ndph-knockout mice occurred but was drastically delayed. The development of the superficial retinal vasculature was strongly delayed, whereas the deep retinal vasculature did not form because of the blockage of vessel outgrowth into the deep retinal layers. Subsequently, microaneurysm-like lesions formed. Several angiogenic factors were differentially transcribed during retinal development. Increased levels of hypoxia inducible factor-1alpha (HIF1alpha) and VEGFA, as well as a characteristic ERG pattern, confirmed hypoxic conditions in the inner retina of the Ndph-knockout mouse. These data provide evidence for a crucial role of Norrin in hyaloid vessel regression and in sprouting angiogenesis during retinal vascular development, especially in the development of the deep retinal capillary networks. They also suggest an early and a late phase of Norrie disease and may provide an explanation for similar phenotypic features of allelic retinal diseases in mice and patients as secondary consequences of pathologic hypoxia.

An early modern mass medium : The adventures of Cartouche in Dutch penny prints (1700-1900)

NARCIS (Netherlands)

Salman, J.L.

2018-01-01

This article demonstrates the social and cultural significance of eighteenth and nineteenth century Dutch penny prints – one of the first mass media in European history. By using a combination of media and cultural historical approaches (Henry Jenkins, John Fiske) and an anthropological perspective

Molecular analysis of the NDP gene in two families with Norrie disease.

Science.gov (United States)

Rivera-Vega, M Refugio; Chiñas-Lopez, Silvet; Vaca, Ana Luisa Jimenez; Arenas-Sordo, M Luz; Kofman-Alfaro, Susana; Messina-Baas, Olga; Cuevas-Covarrubias, Sergio Alberto

2005-04-01

To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND). We analysed two families with ND at molecular level through polymerase chain reaction, DNA sequence analysis and GeneScan. Two molecular defects found in the NDP gene were: a missense mutation (265C > G) within codon 97 that resulted in the interchange of arginine by proline, and a partial deletion in the untranslated 3' region of exon 3 of the NDP gene. Clinical findings were more severe in the family that presented the partial deletion. We also diagnosed the carrier status of one daughter through GeneScan; this method proved to be a useful tool for establishing female carriers of ND. Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status.

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

Science.gov (United States)

Zhang, Xin-Yu; Jiang, Wei-Ying; Chen, Lu-Ming; Chen, Su-Qin

2013-01-01

To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND). Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF) prediction were also undertaken. Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both patients. The mutation and the mutation bearing haplotype co-segregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers (II:2). The male without ND did not harbor the mutation. The mutation occurred at the highly conserved nucleotides. ORF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11 N-terminal amino acids. A novel mutation, c.-1_2delAAT in the NDP gene, was identified in a Chinese family with ND. This mutation caused ND without obvious sensorineural hearing loss. Mental disorder was found in one but not the other patients. The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.

A rare case of short stature: Say Meyer syndrome

Directory of Open Access Journals (Sweden)

T S Karthik

2013-01-01

Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.

Science.gov (United States)

Ngo, J T; Bateman, J B; Spence, M A; Cortessis, V; Sparkes, R S; Kivlin, J D; Mohandas, T; Inana, G

1990-01-01

A human ornithine aminotransferase (OAT) locus has been mapped to the Xp11.2, as has the Norrie disease locus. We used a cDNA probe to investigate a 3-generation UCLA family with Norrie disease; a 4.2-kb RFLP was detected and a maximum lod score of 0.602 at zero recombination fraction was calculated. We used the same probe to study a second multigeneration family with Norrie disease from Utah. A different RFLP of 7.5 kb in size was identified and a recombinational event between the OAT locus represented by this RFLP and the disease loci was observed. Linkage analysis of these two loci in this family revealed a maximum load score of 1.88 at a recombination fraction of 0.10. Although both families have affected members with the same disease, the lod scores are reported separately because the 4.2- and 7.5-kb RFLPs may represent two different loci for the X-linked OAT.

Rakesh K. Kapania named Norris and Laura Mitchell Professor of Aerospace Engineering

OpenAIRE

Crumbley, Liz

2008-01-01

Rakesh K. Kapania, a professor in the Department of Aerospace and Ocean Engineering in the College of Engineering at Virginia Tech, was appointed the Norris and Laura Mitchell Professor of Aerospace Engineering by the Virginia Tech Board of Visitors during the board's quarterly meeting March 31.

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

Science.gov (United States)

Wu, Wei-Chi; Drenser, Kimberly; Trese, Michael; Capone, Antonio; Dailey, Wendy

2007-02-01

To correlate the ophthalmic findings of patients with pediatric vitreoretinopathies with mutations occurring in the Norrie disease gene (NDP). One hundred nine subjects with diverse pediatric vitreoretinopathies and 54 control subjects were enrolled in the study. Diagnoses were based on retinal findings at each patient's first examination. Samples of DNA from each patient underwent polymerase chain reaction amplification and direct sequencing of the NDP gene. Eleven male patients expressing mutations in the NDP gene were identified in the test group, whereas the controls demonstrated wild-type NDP. All patients diagnosed as having Norrie disease had mutations in the NDP gene. Four of the patients with Norrie disease had mutations involving a cysteine residue in the cysteine-knot motif. Four patients diagnosed as having familial exudative vitreoretinopathy were found to have noncysteine mutations. One patient with retinopathy of prematurity had a 14-base deletion in the 5' untranslated region (exon 1), and 1 patient with bilateral persistent fetal vasculature syndrome expressed a noncysteine mutation in the second exon. Mutations disrupting the cysteine-knot motif corresponded to severe retinal dysgenesis, whereas patients with noncysteine mutations had varying degrees of avascular peripheral retina, extraretinal vasculature, and subretinal exudate. Patients exhibiting severe retinal dysgenesis should be suspected of carrying a mutation that disrupts the cysteine-knot motif in the NDP gene.

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Science.gov (United States)

Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

2005-09-02

Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

Guest Editorial: Chronic kidney disease | Meyers | South African ...

African Journals Online (AJOL)

South African Medical Journal. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 105, No 3 (2015) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Guest Editorial: Chronic kidney disease. AM Meyers. Abstract. No abstract.

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family

Directory of Open Access Journals (Sweden)

Xin-Yu Zhang

2013-12-01

Full Text Available AIM:To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND.METHODS:Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF prediction were also undertaken.RESULTS:Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both patients. The mutation and the mutation bearing haplotype co-segregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers (II:2. The male without ND did not harbor the mutation. The mutation occurred at the highly conserved nucleotides. ORF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11 N-terminal amino acids.CONCLUSION:A novel mutation, c.-1_2delAAT in the NDP gene, was identified in a Chinese family with ND. This mutation caused ND without obvious sensorineural hearing loss. Mental disorder was found in one but not the other patients. The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.

Flocking dynamics and roosting behaviour of Meyer's parrot ...

African Journals Online (AJOL)

For most of the year, Meyer's parrots in the Okavango Delta do not form large feeding flocks, and groups larger than two or three are probably the result of opportunistic aggregation at favoured food items after dispersion from communal roosts. Communal roosting likely does not facilitate flocking unless the food resources ...

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.

Science.gov (United States)

Meitinger, T; Meindl, A; Bork, P; Rost, B; Sander, C; Haasemann, M; Murken, J

1993-12-01

The X-lined gene for Norrie disease, which is characterized by blindness, deafness and mental retardation has been cloned recently. This gene has been thought to code for a putative extracellular factor; its predicted amino acid sequence is homologous to the C-terminal domain of diverse extracellular proteins. Sequence pattern searches and three-dimensional modelling now suggest that the Norrie disease protein (NDP) has a tertiary structure similar to that of transforming growth factor beta (TGF beta). Our model identifies NDP as a member of an emerging family of growth factors containing a cystine knot motif, with direct implications for the physiological role of NDP. The model also sheds light on sequence related domains such as the C-terminal domain of mucins and of von Willebrand factor.

Ikarus. Deon Meyer. Kaapstad: Human & Rousseau, 2015. 416 pp ...

African Journals Online (AJOL)

bied Meyer met Ikarus 'n meer kliniese, meer metodiese, en ... glad nie so rooskleurig as wat die media en die publiek dink .... the police laboratory,” (in Malmgren 174). Forensiese én ... finger of social condemnation passes over a number of ...

Meyer Shapiro : un crítico contradictorio

Directory of Open Access Journals (Sweden)

Amparo Serrano de Haro

1992-01-01

Full Text Available A partir de los años 60 la figura del crítico de arte e historiador Meyer Shapiro deja de ser considerada como la voz que clama en el desierto adonde la critica formalista (primero Barr y luego el todopoderoso Greenberg le había desterrado, puesto que él defendía una visión social de la historia del arte.

The value of children in the context of the family in Java / by Paul A. Meyer

Trove (Australia)

Meyer, Paul A

1987-01-01

... The value of children in the context of the family in Java [microform] / by Paul A. Meyer. The value of children in the context of the family in Java by Paul A. Meyer. The value of children in the context of the family in Java ...

Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome.

Science.gov (United States)

Todorich, Bozho; Thanos, Aristomenis; Yonekawa, Yoshihiro; Capone, Antonio

2017-03-01

Norrie disease is a rare, but devastating cause of pediatric retinal detachment, universally portending a poor visual prognosis. This paper describes successful surgical management of an infant with total retinal detachment associated with Norrie disease mutation. The infant was a full-term white male who presented with bilateral total funnel retinal detachments (RDs). He underwent genetic testing, which demonstrated single-point mutation 133 G>A transition in exon 2 of the NDP gene. The retinal detachment was managed with translimbal iridectomy, lensectomy, capsulectomy, and vitrectomy. Careful dissection of the retrolental membranes resulted in opening of the funnel. Single-stage surgery in this child's eye achieved re-attachment of the posterior pole with progressive reabsorption of subretinal fluid and cholesterol without the need for external drainage. Fluorescein angiography, performed at 2 months postoperatively, demonstrated perfusion of major vascular arcades, but with significant abnormalities and aneurysmal changes of higher-order vessels, suggestive of retinal and vascular dysplasia. The child has maintained brisk light perception vision. Early surgical intervention with careful dissection of tractional tissues can potentially result in good anatomic outcomes in some patients with Norrie disease-associated retinal detachment. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:260-262.]. Copyright 2017, SLACK Incorporated.

Fundamental solutions in piezoelectricity. Penny-shaped crack solution

International Nuclear Information System (INIS)

Dyka, Ewa; Rogowski, Bogdan

2006-01-01

The problem of electroelasticity for piezoelectric materials is considered. For axially symmetric states three potentials are introduced, which determine the displacements, the electric potentials, the stresses, the components of the electric field vector and the electric displacements in a piezoelectric body. These fundamental solutions are utilized to solve the penny-shaped crack problem. Two cases of boundary-value problems are considered, namely the permeable and impermeable crack boundary conditions. Exact solutions are obtained for elastic and electric fields. The main results are the stress intensity factor for singular stress and the electric displacement intensity factor. The numerical results are presented graphically to show the influence of applied mechanical and electrical loading on the analyzed quantities and to clarify the effect of anisotropy of piezoelectric materials. It is show that the influence of anisotropy of the materials on these fields is significant

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Science.gov (United States)

Chen, Z Y; Battinelli, E M; Fielder, A; Bundey, S; Sims, K; Breakefield, X O; Craig, I W

1993-10-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral retina. Both autosomal dominant (adFEVR) and X-linked (XLFEVR) forms have been described, but the biochemical defect(s) underlying the symptoms are unknown. Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. The observations suggest that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.

Comments on ''The non-linear saturation of a magnetic island'' by J. Norris

International Nuclear Information System (INIS)

Thyagaraja, A.

1990-01-01

Recent results derived on non-linear saturation of tearing modes (Norris, J., Plasma Phys. Contr. Fusion, 1989, Vol. 31, 699) are examined in relation to previously published literature. It is explicitly demonstrated that they are at variance in several important respects with those due to previous workers in this area. (author)

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.

Science.gov (United States)

Ravia, Y; Braier-Goldstein, O; Bat-Miriam, K M; Erlich, S; Barkai, G; Goldman, B

1993-08-01

X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis. A Jewish family of oriental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The authors postulated that the described findings are distinguished from Norrie disease, since in this case no clinical findings, other than those associated with the eyes, were noticed in the affected males. In addition, two of the carrier females exhibit minimal eye changes. We have performed linkage analysis of the family using the L1.28, p58-1 and m27 beta probes, and DXS426 and MAOB associated microsatellites. Our results map the gene responsible for the disorder between the MAOB and DXS426, m27 beta and p58-1 loci, on the short arm of the X chromosome at Xp11.3, which suggest the possibility that the same gene is responsible for both primary retinal dysplasia and Norrie disease.

Interpretation and consequences of Meyer-Neldel rule for conductivity of phase change alloys

Energy Technology Data Exchange (ETDEWEB)

Savransky, S.D. [The TRIZ Experts, 6015 Peppertree Court, Newark, CA 94560 (United States); Yelon, A. [Department of Engineering Physics and Reseau Quebecois de Materiaux de Pointe, Ecole Polytechnique, P.O. Box 6079, Station C-V Montreal, Quebec (Canada)

2010-03-15

Measurements of conductivity as a function of temperature were performed on a large number of memory cells of a GeSbTe phase change memory alloy, in both the set and reset states. Conductivity obeys the Meyer-Neldel rule in both states, with the same Meyer-Neldel, or isokinetic, temperature, but with conductivity prefactors about six orders of magnitude larger in the set than in the reset state. These observations are interpreted in terms of the multiexcitation entropy model, and conduction mechanisms are suggested. Their effect on the expected behavior of memories is considered. (Abstract Copyright [2010], Wiley Periodicals, Inc.)

The feeding ecology of Meyer's Parrot Poicephalus meyeri in the ...

African Journals Online (AJOL)

The diet of Meyer's Parrot Poicephalus meyeri in the Okavango Delta, Botswana, was distinctly seasonal, comprising 71 different food items from 37 tree species in 16 families. During 480 road transects over 24 months, food item preferences closely tracked fruiting phenology, resulting in significant positive correlations ...

Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.

Science.gov (United States)

Ngo, J T; Bateman, J B; Cortessis, V; Sparkes, R S; Mohandas, T; Inana, G; Spence, M A

1989-05-01

Previous study has shown that the usual DNA marker for Norrie disease, the L1.28 probe which identifies the DXS7 locus, can recombine with the disease locus. In this study, we used a human ornithine aminotransferase (OAT) cDNA which detects OAT-related DNA sequences mapped to the same region on the X chromosome as that of the L1.28 probe to investigate the family with Norrie disease who exhibited the recombinational event. When genomic DNA from this family was digested with the PvuII restriction endonuclease, we found a restriction fragment length polymorphism (RFLP) of 4.2 kb in size. This fragment was absent in the affected males and cosegregated with the disease locus; we calculated a lod score of 0.602, at theta = 0.00. No deletion could be detected by chromosomal analysis or on Southern blots with other enzymes. These results suggest that one of the OAT-related sequences on the X chromosome may be in close proximity to the Norrie disease locus and represent the first report which indicates that the OAT cDNA may be useful for the identification of carrier status and/or prenatal diagnosis.

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

Science.gov (United States)

Sims, K B; Lebo, R V; Benson, G; Shalish, C; Schuback, D; Chen, Z Y; Bruns, G; Craig, I W; Golbus, M S; Breakefield, X O

1992-05-01

Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3. We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date. Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration. A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene. An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene. An Alu-PCR fragment from the right arm of the MAO YAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region. The apparent order of these loci is telomere ... DXS7-MAOA-MAOB-NDP-dc12-YMAO.AluR ... centromere. Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb.

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.

Science.gov (United States)

Kellner, U; Fuchs, S; Bornfeld, N; Foerster, M H; Gal, A

1996-06-01

To describe the ocular phenotypes associated with 2 mutations in the Norrie disease gene including a manifesting carrier. Ophthalmological examinations were performed in 2 affected males and one manifesting carrier. Genomic DNA was analyzed by direct sequencing of the Norrie disease gene. Family I: A 29-year-old male had the right eye enucleated at the age of 3 years. His left eye showed severe temporal dragging of the retina and central scars. Visual acuity was 20/300. DNA analysis revealed a C-to-T transition of the first nucleotide in codon 121 predicting the replacement of arginine-121 by tryptophan (R121W). Both the mother and maternal grandmother carry the same mutation in heterozygous form. Family 2: A 3-month-old boy presented with severe temporal dragging of the retina on both eyes and subsequently developed retinal detachment. Visual acuity was limited to light perception. His mother's left eye was amaurotic and phthitic. Her right eye showed severe retinal dragging, visual acuity was reduced to 20/60. DNA analysis revealed a T-to-A transversion of the third nucleotide in codon 126 creating a stop codon (C126X). The mother and maternal grandmother were carriers. Mutations in the Norrie disease gene can lead to retinal malformations of variable severity both in hemizygous males and manifesting carriers.

Waarnemingen aan Equisetum arvense L. var. serotinum F.W. Meyer

NARCIS (Netherlands)

Hoek, van L.

1978-01-01

Observations during six successive years in a cultivated clone of Equisetum arvense L. var. serotinum F. W. Meyer made it possible to study various types of fertile, sterile, and homophyadic stems developing in this clone. As E. arvense var. varium Milde, E. arvense f. sanguineum Luerss., and E.

Nest niche dynamics of Meyer's Parrot Poicephalus meyeri in the ...

African Journals Online (AJOL)

Meyer's Parrot Poicephalus meyeri is the only cavity-nesting bird species that breeds during winter in the Okavango Delta. This is facilitated by exclusive access to arthropod larvae incubating inside and feeding on fruits and pods in their diet. To minimise predation risk and overcome low overnight temperatures they have ...

The Frankenstein Meme: Penny Dreadful and The Frankenstein Chronicles as Adaptations

Directory of Open Access Journals (Sweden)

Braid Barbara

2017-11-01

Full Text Available Mary Shelley’s Frankenstein (1818 is one of the most adaptable and adapted novels of all time, spurring countless renditions in film, television, comic books, cartoons, and other products of popular culture. Like a meme, this story adapts itself to changing cultural contexts by replication with mutation. This article examines the adaptive and appropriative features of two recent examples of such renditions in the form of television series, Penny Dreadful (2014-2016 and The Frankenstein Chronicles (2015. It discusses palimpsestic appropriations used in these shows, their depiction of Frankenstein and his Creatures, and above all, the themes and their meanings which these twenty-first-century appropriations of Frankenstein offer.

The reflective look of Pedro Meyer: photography as the photography mediation problematic O olhar reflexivo de Pedro Meyer: a fotografia como problematizadora da própria mediação fotográfica

Directory of Open Access Journals (Sweden)

Ana Carolina Lima Santos

2011-08-01

Full Text Available This paper discusses Pedro Meyer’s photographs with special attention to the way that they are arranged as a kind of reflection about the language of photography and its capacity of mediation. In that, the pictures made by Meyer seem to have a symbolic dimension, which request a conscious activity of the spectator – contradicting the idea of image as a form of alienation proposed by Guy Debord. O presente artigo propõe uma discussão acerca do trabalho do fotógrafo Pedro Meyer a partir do entendimento de que suas imagens, ao explicitar e esgarçar limites de noções caras à natureza do fotográfico, funcionam como reflexão sobre a linguagem fotográfica e o seu poder de mediação. Discute-se, assim, como as imagens de Meyer assumem uma dimensão simbólica que solicitam do espectador uma prática de ativa – opondo-se à noção debordiana de imagens alienantes.

Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

Science.gov (United States)

Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M

1992-11-01

We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agreed to blood sampling for genetic investigations. RFLP analysis was performed using probes from the region known to be deleted in some Norrie patients and polymorphic markers (DXS77, DXS7, MAOA, DXS255) from the proximal short arm of the X chromosome. There was no deletion for any of the probes in the affected males. Linkage analysis yielded positive lod scores for all informative markers (Z (DXS255, theta = 0) = 6.54, Z (MAOA, theta = 0) = 2.23, Z (DXS7, theta = 0) = 2.13). Thus, the conclusion that Episkopi blindness and Norrie disease (NDP, MIM *310600) are the same entity based on clinical evidence is now reinforced by gene mapping.

Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.

Science.gov (United States)

Murphy, D L; Sims, K B; Karoum, F; Garrick, N A; de la Chapelle, A; Sankila, E M; Norio, R; Breakefield, X O

1991-01-01

Two individuals with an X-chromosomal deletion were recently found to lack the genes encoding monoamine oxidase type A (MAO-A) and MAO-B. This abnormality was associated with almost total (90%) reductions in the oxidatively deaminated urinary metabolites of the MAO-A substrate, norepinephrine, and with marked (100-fold) increases in an MAO-B substrate, phenylethylamine, confirming systemic functional consequences of the genetic enzyme deficiency. However, urinary concentrations of the deaminated metabolites of dopamine and serotonin (5-HT) were essentially normal. To investigate other deaminating systems besides MAO-A and MAO-B that might produce these metabolites of dopamine and 5-HT, we examined plasma amine oxidase (AO) activity in these two patients and two additional patients with the same X-chromosomal deletion. Normal plasma AO activity was found in all four Norrie disease-deletion patients, in four patients with classic Norrie disease without a chromosomal deletion, and in family members of patients from both groups. Marked plasma amine metabolite abnormalities and essentially absent platelet MAO-B activity were found in all four Norrie disease-deletion patients, but in none of the other subjects in the two comparison groups. These results indicate that plasma AO is encoded by gene(s) independent of those for MAO-A and MAO-B, and raise the possibility that plasma AO, and perhaps the closely related tissue AO, benzylamine oxidase, as well as other atypical AOs or MAOs encoded independently from MAO-A and MAO-B may contribute to the oxidative deamination of dopamine and 5-HT in humans.

Impact of implementing the Meyer-Neldel behavior of carrier emission pre-factors in solar cell and optical detector modeling

Energy Technology Data Exchange (ETDEWEB)

Rubinelli, Francisco A.; Ramirez, Helena [INTEC, Conicet, Universidad Nacional del Litoral, Güemes 3450, 3000 Santa Fe (Argentina)

2015-03-14

The Meyer-Neldel behavior reported for the emission probabilities of electrons and holes was included in our code, replacing the gap state capture cross sections of the Shockley-Read-Hall formalisms with capture cross sections containing an exponential function of the trap energy depth. The Meyer-Neldel energies for electrons and holes are the slopes of these exponentials. Our results indicate that emission probabilities of neutral states no deeper than approximately 0.45 eV and 0.37 eV from the conduction and valence band edges, respectively, can show a Meyer-Neldel behavior only, while on the other hand, its implementation in deeper gap states makes the replication of experimental J-V curves of p-i-n solar cells and detectors impossible. The Meyer-Neldel behavior can be included in all neutral capture cross sections of acceptor-like tail states without affecting the J-V characteristics, while it cannot be included in all capture cross sections of neutral donor-like tail states and/or defect states without predicting device performances below the experimental figures, that become even lower when it is also included in charged capture cross sections. The implementation of the anti Meyer-Neldel behavior at tail states gives rise to slightly better and reasonable device performances.

Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.

Science.gov (United States)

Mintz-Hittner, H A; Ferrell, R E; Sims, K B; Fernandez, K M; Gemmell, B S; Satriano, D R; Caster, J; Kretzer, F L

1996-12-01

The Norrie disease (ND) gene (Xp11.3) (McKusick 310600) consists of one untranslated exon and two exons partially translated as the Norrie disease protein (Norrin). Norrin has sequence homology and computer-predicted tertiary structure of a growth factor containing a cystine knot motif, which affects endothelial cell migration and proliferation. Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X-linked exudative vitreoretinopathy (congenital macular ectopia) are allelic disorders. Blood was drawn for genetic studies from members of two families to test for ND gene mutations. Sixteen unaffected family members were examined ophthalmologically. If any retinal abnormality were identified, fundus photography and fluorescein angiography was performed. Family A had ND (R109stp), and family B had X-linked exudative vitreoretinopathy (R121L). The retinas of 11 offspring of carrier females were examined: three of seven carrier females, three of three otherwise healthy females, and one of one otherwise healthy male had peripheral inner retinal vascular abnormalities. The retinas of five offspring of affected males were examined: none of three carrier females and none of two otherwise healthy males had this peripheral retinal finding. Peripheral inner retinal vascular abnormalities similar to regressed retinopathy of prematurity were identified in seven offspring of carriers of ND gene mutations in two families. These ophthalmologic findings, especially in four genetically healthy offspring, strongly support the hypothesis that abnormal Norrin may have an adverse transplacental (environmental) effect on normal inner retinal vasculogenesis.

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.

Science.gov (United States)

Andarva, Monavvar; Jamshidi, Javad; Ghaedi, Hamid; Daftarian, Narsis; Emamalizadeh, Babak; Alehabib, Elham; Taghavi, Shaghyegh; Pouriran, Ramin; Darvish, Hossein

2018-03-01

Norrie disease (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood blindness. The aim of the present study was to identify the genetic cause of the disease and the phenotypic characteristics of the patients in an Iranian family with four affected males with ND. Norrie disease pseudoglioma (NDP) gene was sequenced and clinical examination was performed on patients. A GG dinucleotide insertion in exon 3 (c.240_241insGG) of NDP was detected in all patients. The mutation caused a frameshift and an early stop codon (p.Phe81Glyfs*23). A novel mutation was found in the NDP gene in the affected males of the family. As the mutation was absent in the normal male members of the family, it should be the genetic cause of the disease. © 2017 Optometry Australia.

Protein extraction from the stem of Panax ginseng C. A. Meyer: A ...

African Journals Online (AJOL)

Administrator

2011-05-23

May 23, 2011 ... Meyer: A tissue of lower protein extraction efficiency for proteomic analysis ..... key technology R&D program (No. 2007BAI38B02),. National ... Six new dammarane-type triterpene saponins from the leaves of. Panax ginseng.

Penny Lane et Strawberry Field(s : réel, identité et fantasmagorie

Directory of Open Access Journals (Sweden)

Bernard Gensane

2010-11-01

Full Text Available Les chansons « Penny Lane » et « Strawberry Fields Forever » permettent d’appréhender le thème de l’enfance chez les Beatles. De manière très différente, John Lennon et Paul McCartney s’appuient sur une visite de deux lieux réels liverpooliens pour mettre en résonance leurs visions fantasmagoriques du passé, et pour exploiter la langue (qu’ils travaillent et qui les travaille dans une perspective authentiquement artistique.

Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

Science.gov (United States)

Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

2011-01-01

The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

Science.gov (United States)

Gal, A; Veske, A; Jojart, G; Grammatico, B; Huber, B; Gu, S; del Porto, G; Senyi, K

1996-01-01

Norrie-Warburg syndrome (NWS) is a rare X-linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1-base pair insertion (insT466/T467), together with a recurrent mutation (M1V), found in patients presenting with the classical clinical phenotype of NWS. All three mutations are likely to result in prominent structural changes of the norrin protein.

Effects of Korean ginseng ( Panax ginseng C.A. Meyer) root extract ...

African Journals Online (AJOL)

Effects of Korean ginseng ( Panax ginseng C.A. Meyer) root extract on egg production performance and egg quality of laying hens. ... The trolox equivalent antioxidant capacity (TEAC), ferric reducing antioxidant power (FRAP) and total phenolics concentration of PGRE were 598 ± 1.841 mmol trolox/kg, 15.45 ± 0.457 mmol ...

Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.

Science.gov (United States)

Chini, Vasiliki; Stambouli, Danai; Nedelea, Florina Mihaela; Filipescu, George Alexandru; Mina, Diana; Kambouris, Marios; El-Shantil, Hatem

2014-06-01

Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members. Mapping of the X chromosome and candidate gene mutation screening identified a c.C267A[p.F89L] mutation in NPD previously described as possibly causing Norrie disease. The detection of the c.C267A[p.F89L] variant in another unrelated family confirms the pathogenic nature of the mutation for the Norrie disease phenotype. Gene mapping, haplotype analysis, and candidate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information. The clinical diagnosis and mutation identification were critical for providing proper genetic counseling and prenatal diagnosis for this family.

Approximation theorems by Meyer-Koenig and Zeller type operators

International Nuclear Information System (INIS)

Ali Ozarslan, M.; Duman, Oktay

2009-01-01

This paper is mainly connected with the approximation properties of Meyer-Koenig and Zeller (MKZ) type operators. We first introduce a general sequence of MKZ operators based on q-integers and then obtain a Korovkin-type approximation theorem for these operators. We also compute their rates of convergence by means of modulus of continuity and the elements of Lipschitz class functionals. Furthermore, we give an rth order generalization of our operators in order to get some explicit approximation results.

Real-time Remote Data Online For Norris Geyser Basin in Yellowstone National Park

Science.gov (United States)

Perry, J. E.; Lowenstern, J. B.; Clor, L.; Cervelli, P. F.; Allen, S. T.; Heasler, H.; Moloney, T.

2010-12-01

Perry, John, Lowenstern, Jacob, Cervelli, Peter, Clor, Laura, Heasler, Henry, Allen, Scott, Moloney, Tim During June 2010, ten 900MHz wireless temperature data loggers (nodes) were installed around the Norris Geyser Basin to monitor geothermal features, streams and soil temperatures. The loggers can provide near real-time updates on temperature variations within 0.2 deg C due to hydrothermal discharges or subsurface fluid migration. Each sensor node is programmed to measure the temperature every two minutes and automatically upload data to the base station computer daily. The hardware consists of a waterproof case containing an M5 logger (made by Marathon Products, Inc.®) with internal memory, lithium D-cell batteries and a 900 MHz, 1-W-transceiver and 5 meter long Teflon-coated probe with a thermistor sensor. Tethered stub or panel antennas are oriented to optimize signal strength to the base station near the Norris Museum. A 0.61 meter-long base-station antenna located 10m high provides signal to the furthest node over 850 meters away with most being “line-of-sight”. A 20-meter coaxial cable and lightning grounding wire connects the base-station antenna to an Ethernet-radio connected to the YNP local-area network. A server located 26-km north at Mammoth Hot Springs requests data at regular intervals (normally daily), archives the information, and then sends it to the USGS for further archiving and internet distribution. During periods of unusual hydrothermal behavior, data can be requested as needed, and it is possible to set user-programmable alarm limits for notification. The RF network is designed to monitor changes from three different sub-basins at Norris (Gray Lakes, Steamboat-Echinus and Porcelain Basin), the main Tantalus Creek drainage, and five individual thermal features (Constant, Porkchop, Steamboat and Echinus Geysers, and Opalescent Spring). The logger installed in Nuphar Lake provides ambient temperatures controlled solely by local

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4.

Science.gov (United States)

Staropoli, John F; Xin, Winnie; Sims, Katherine B

2010-11-01

Norrie disease is a rare X-linked congenital retinal vasculopathy that may be accompanied by sensorineural deafness, mental retardation, and other neurological deficits. Here we present a family in which Norrie disease co-segregated with either early-onset idiopathic pulmonary hypertension or sudden death preceded by a period of progressive dyspnea. Neither Norrie disease, nor its atypical variants described to date, have been associated with this extended clinical phenotype. Molecular analysis of the Norrie disease gene (NDP) and adjacent loci was performed by multiplex ligation-dependent probe amplification and comparative genomic hybridisation. Affected males in this family showed an inherited hemizygous deletion restricted to NDP and two immediately telomeric genes, monoamine oxidase-B (MAO-B) and monoamine oxidase-A (MAO-A), which encode closely related enzymes that metabolize biogenic amines including serotonin, dopamine, and norepinephrine. Sequencing of the deletion junction showed an unusual pattern in which a region of microhomology flanked intervening genomic sequence. Because abnormalities of biogenic amines, particularly serotonin, have been implicated in the pathophysiology of pulmonary hypertension, we propose that presumed MAO deficiency in these patients may represent a novel risk factor for pulmonary hypertension, particularly forms with very early onset. Fine-mapping of other microdeletions at this locus may provide insights into additional mechanisms for nonrecurrent genomic rearrangements at this and other chromosomal loci.

Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.

OpenAIRE

Phillips, C I; Newton, M; Duvall, J; Holloway, S; Levy, A M

1986-01-01

Two sibships, each with two affected males but no other affected family members, are described. All four patients at birth had small eyes with white masses visible behind clear lenses. Support for a diagnosis of Norrie's disease lies in the probable mental retardation and sudden death of one child and mental retardation in the other in one of the families, and strong support in the sensorineural deafness in one child in the other family. A necropsy was performed on the dead child. Both eyes s...

Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.

Science.gov (United States)

Beck, Susanne C; Feng, Yuxi; Sothilingam, Vithiyanjali; Garcia Garrido, Marina; Tanimoto, Naoyuki; Acar, Niyazi; Shan, Shenliang; Seebauer, Britta; Berger, Wolfgang; Hammes, Hans-Peter; Seeliger, Mathias W

2017-01-01

Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment and ultimately blindness. While the emphasis of experimental work so far was on the developmental period, we focus here on disease mechanisms that induce progression into severe adult disease. The goal of this study was the comprehensive analysis of the long-term effects of the absence of Norrin on vascular homeostasis and retinal function. In a mouse model of Norrie disease retinal vascular morphology and integrity were studied by means of in vivo angiography; the vascular constituents were assessed in detailed histological analyses using quantitative retinal morphometry. Finally, electroretinographic analyses were performed to assess the retinal function in adult Norrin deficient animals. We could show that the primary developmental defects not only persisted but developed into further vascular abnormalities and microangiopathies. In particular, the overall vessel homeostasis, the vascular integrity, and also the cellular constituents of the vascular wall were affected in the adult Norrin deficient retina. Moreover, functional analyses indicated to persistent hypoxia in the neural retina which was suggested as one of the major driving forces of disease progression. In summary, our data provide evidence that the key to adult Norrie disease are ongoing vascular modifications, driven by the persistent hypoxic conditions, which are ineffective to compensate for the primary Norrin-dependent defects.

Pennies from heaven? Conceptions and earmarking of lottery prize money.

Science.gov (United States)

Hedenus, Anna

2014-06-01

The source of money has been shown to be important for how money is spent. In addition, sudden wealth is often associated with social and psychological risks. This article investigates if conceptions of lottery prize money--as a special kind of money--imply restrictions on how it can be spent. Analysis of interviews with lottery winners shows that interviewees use earmarking of the prize money as a strategy for avoiding the pitfalls associated with a lottery win. Conceptions of lottery prize money as 'a lot' or as 'a little', as shared or personal, and as an opportunity or a risk, influences the ends for which it is earmarked: for self-serving spending, a 'normal' living standard, paying off loans, saving for designated purposes, or for economic security and independence. Clearly defining and earmarking lottery prize money thus helps lottery winners construe their sudden wealth, not as a risk, but as 'pennies from heaven.' © London School of Economics and Political Science 2014.

The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease.

Science.gov (United States)

Warden, Scott M; Andreoli, Christopher M; Mukai, Shizuo

2007-01-01

The Wnt signaling pathway is highly conserved among species and has an important role in many cell biological processes throughout the body. This signaling cascade is involved in regulating ocular growth and development, and recent findings indicate that this is particularly true in the retina. Mutations involving different aspects of the Wnt signaling pathway are being linked to several diseases of retinal development. The aim of this article is to first review the Wnt signaling pathway. We will then describe two conditions, familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND), which have been shown to be caused in part by defects in the Wnt signaling cascade.

Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.

Directory of Open Access Journals (Sweden)

Susanne C Beck

Full Text Available Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment and ultimately blindness. While the emphasis of experimental work so far was on the developmental period, we focus here on disease mechanisms that induce progression into severe adult disease. The goal of this study was the comprehensive analysis of the long-term effects of the absence of Norrin on vascular homeostasis and retinal function. In a mouse model of Norrie disease retinal vascular morphology and integrity were studied by means of in vivo angiography; the vascular constituents were assessed in detailed histological analyses using quantitative retinal morphometry. Finally, electroretinographic analyses were performed to assess the retinal function in adult Norrin deficient animals. We could show that the primary developmental defects not only persisted but developed into further vascular abnormalities and microangiopathies. In particular, the overall vessel homeostasis, the vascular integrity, and also the cellular constituents of the vascular wall were affected in the adult Norrin deficient retina. Moreover, functional analyses indicated to persistent hypoxia in the neural retina which was suggested as one of the major driving forces of disease progression. In summary, our data provide evidence that the key to adult Norrie disease are ongoing vascular modifications, driven by the persistent hypoxic conditions, which are ineffective to compensate for the primary Norrin-dependent defects.

HANNES MEYER Y LA ESCUELA FEDERAL ADGB: LA SERIE COMO ESTRATEGIA FORMAL / HANNES MEYER AND THE ADGB TRADE UNION SCHOOL: SERIES AS A FORMAL STRATEGY

Directory of Open Access Journals (Sweden)

Víctor Larripa Artieda

2017-11-01

Full Text Available RESUMEN Hannes Meyer fue uno de los arquitectos más comprometidos con las ideas del ala radical del racionalismo, que él mismo y otros grandes arquitectos, como Mart Stam, Hans Wittwer, Karel Teige, Ludwig Hilberseimer o Ernst May, desarrollaron durante la década de los años veinte. Su voluntad de desvincular la arquitectura del “high–art” burgués y de todo simbolismo propio del pasado, de producir construcciones de carácter objetivo y social, quedó patente en proyectos y obras firmadas por todos ellos: en el caso de Meyer, probablemente, la construcción que mejor expresa tales postulados y aquel nuevo modo de hacer arquitectura sea la Escuela Federal ADGB; construida en Bernau entre 1928 y 1930. El presente artículo estudia la citada obra, a la luz del ideario arquitectónico y social de arquitecto suizo, y trata de exponer la estrategia que se encuentra detrás de su formalización: la serie. En efecto, a partir de este mecanismo de proyecto, basado en la repetición o reproducción casi infinita de sistemas constructivos o de unidades del programa–o de ambas al mismo tiempo–aquellos arquitectos descubrieron un nuevo modo de generar la forma arquitectónica, moderno y muy poco explorado hasta entonces. Una vía donde valores como la horizontalidad, la ausencia de centro o jerarquía, la igualdad y la objetividad se erigían como el nuevo relato de la arquitectura. SUMMARY Hannes Meyer was one of the most committed architects to the ideas of the radical wing of rationalism, which he himself and other great architects, such as Mart Stam, Hans Wittwer, Karel Teige, Ludwig Hilberseimer and Ernst May, developed during the twenties. Their desire to unshackle architecture from bourgeois “high art” and from all symbolism from the past, to produce constructions of an objective and social nature, was made patent in the designs and works signed by all of them. With regard to Meyer, the construction which best expresses these

Existential contextuality and the models of Meyer, Kent, and Clifton

International Nuclear Information System (INIS)

Appleby, D.M.

2002-01-01

It is shown that the models recently proposed by Meyer, Kent, and Clifton (MKC) exhibit a novel kind of contextuality, which we term existential contextuality. In this phenomenon it is not simply the pre-existing value but the actual existence of an observable which is context dependent. This result confirms the point made elsewhere, that the MKC models do not, as the authors claim, 'nullify' the Kochen-Specker theorem. It may also be of some independent interest

A Máquina Teórica: O Discurso de Christopher Norris sobre o Pós-Modernismo na Década de Noventa

Directory of Open Access Journals (Sweden)

Adam Sharman

1997-10-01

Full Text Available opresente ensaio oferece uma exegese crítica dos sete livros que, até o final de 1997, o teórico e crítico britânico Christopher Norman dedicou ao pós-modernismo, considerando-se que a temática de Norris é a teoria pósmodernista, não os artefatos culturais ou processos pósmodernistas pelos quais ele demonstra pouco interesse. Nessa trajetória, são entrelaçados os fios de diversas questões: o entendimento de Norris do pós-modernismo; as objeções que ele faz à teoria pós-modernista; o teor de sua discordância de pensadores como Baudrillard com relação à Guerra do Golfo; a nota de desalento que pauta sua visão do pós-modernismo; o impacto do contexto político de direita de Margaret Thatcher sobre sua visão pessimista dos intelectuais pós-modernistas no início da década. Sobretudo, o ensaio rastreia a crítica reiterada de Norris à excessiva extensão conferida à lingüística saussureana, na sua opinião, a raiz de um mal-elaborado "relativismo cultural", bem como seu amplo comentário sobre o afastamento de Michel Foucault do pensamento de Kant. Norris crê que esse encontro ilustra, de forma exemplar, o afastamento pós-modernista dos valores iluministas de verdade, crítica e razão universal, cujo corolário, para ele, é a eliminação de qualquer vinculação, baseada em princípios, entre a prática intelectual e o domínio ético-político. O ensaio oferece, paralelamente, um número de críticas a Norris (inclusive seu hábito de processar diversas posições numa máquina teórica abstrata e imperdoável, aiJ ressaltar as muitas alternativas à teoria pós-modernista que ele explora (filosofias pós-analíticas do significado, filosofia da ciência, realismo causal, a desconstrução de Derrida e de Man. O ensaio conclui estabelecendo uma distinção entre relatividade e relativismo e enfatizando que também a epistemologia necessita de uma ética e de uma responsabilidade -com relação aos textos

Mutations of the Norrie gene in Korean ROP infants.

Science.gov (United States)

Kim, Jeong Hun; Yu, Young Suk; Kim, Jiyeon; Park, Seong Sup

2002-12-01

The present study was conducted to evaluate if there is a Norrie disease gene (ND gene) mutation involved in the retinopathy of prematurity (ROP), and to identify the possibility of a genetic abnormality that may be linked to the presence of ROP. Nineteen premature Korean infants, with a low birth weight (1500 g or less) or low gestational age (32 weeks or less), were included in the study. Eighteen infants had ROP, and the other did not. Genomic DNA was isolated from the peripheral blood leukocytes of these patients, and all three exons and their flanking areas, all known ND gene mutations regions, were evaluated following amplification by a polymerase chain reaction, but no ND gene mutations were detected. Any disagreement between the relationship of ROP to the ND gene mutation will need to be clarified by further investigation.

A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

Science.gov (United States)

Liu, Deyuan; Hu, Zhengmao; Peng, Yu; Yu, Changhong; Liu, Yalan; Mo, Xiaoyun; Li, Xiaoping; Lu, Lina; Xu, Xiaojuan; Su, Wei; Pan, Qian; Xia, Kun

2010-12-08

Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders. We conducted an extensive clinical examination of the proband and performed a computed tomography (CT) scan of his brain. Additionally, we performed ophthalmic examinations, haplotype analyses, and NDP DNA sequencing for 26 individuals from the proband's extended family. The proband's computed tomography scan, in which the fifth ventricle could be observed, indicated cerebellar atrophy. Genome scans and haplotype analyses traced the disease to chromosome Xp21.1-p11.22. Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T, in this region. Although recent research has shown that multiple different mutations can be responsible for the ND phenotype, additional research is needed to understand the mechanism responsible for the diverse phenotypes caused by mutations in the NDP gene.

The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.

Science.gov (United States)

Rodríguez-Muñoz, Ana; García-García, Gema; Menor, Francisco; Millán, José M; Tomás-Vila, Miguel; Jaijo, Teresa

2018-01-26

Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. We report the biochemical, molecular, clinical and radiological features of two unrelated affected males with a deletion including NDP and MAO genes. Biochemical and genetic analyses were performed to understand the atypical phenotype and radiological findings. Biogenic amines in cerebrospinal fluid (CSF) were measured by high-performance liquid chromatography. The coding exons of NDP gene were amplified by polymerase chain reaction. Multiplex ligation-dependent probe amplification and chromosomal microarray were carried out on both affected males. Computed tomography and magnetic resonance imaging were performed on the two patients. In one patient, the serotonin and catecholamine metabolite levels in CSF were virtually undetectable. In both patients, genetic studies revealed microdeletions in the Xp11.3 region, involving the NDP, MAOA and MAOB genes. Radiological examination demonstrated brain and cerebellar atrophy. We suggest that alterations caused by MAO deficit may remain during the first years of life. Clinical phenotype, biochemical findings and neuroimaging can guide the genetic study in patients with atypical ND and help us to a better understanding of this disease.

17 CFR 240.15g-3 - Broker or dealer disclosure of quotations and other information relating to the penny stock market.

Science.gov (United States)

2010-04-01

... quotations and other information relating to the penny stock market. 240.15g-3 Section 240.15g-3 Commodity... Certain Issuers from Section 15(d) of the Act § 240.15g-3 Broker or dealer disclosure of quotations and... paragraph (b) of this section, the following information: (1) The inside bid quotation and the inside offer...

Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.

Science.gov (United States)

Zhu, D P; Antonarakis, S E; Schmeckpeper, B J; Diergaarde, P J; Greb, A E; Maumenee, I H

1989-08-01

We have studied a three-generation family in which Norrie disease is segregating and have performed prenatal diagnosis on the fetus of an obligatory carrier. Deletions at loci DXS7 and DXS77 defined by probes L1.28, L1.28-p59, and pX59 were detected in the affected male. DNA studies of chorionic villus biopsy material indicated that the male fetus had inherited the normal allele from the carrier mother. This prediction was confirmed on eye examination at age 5 months.

Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

Science.gov (United States)

Rehm, Heidi L; Zhang, Duan-Sun; Brown, M Christian; Burgess, Barbara; Halpin, Chris; Berger, Wolfgang; Morton, Cynthia C; Corey, David P; Chen, Zheng-Yi

2002-06-01

Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with an Ndp gene disruption was studied. We examined the hearing phenotype, including audiological, histological, and vascular evaluations. As is seen in humans, the mice had progressive hearing loss leading to profound deafness. The primary lesion was localized to the stria vascularis, which houses the main vasculature of the cochlea. Fluorescent dyes showed an abnormal vasculature in this region and eventual loss of two-thirds of the vessels. We propose that one of the principal functions of norrin in the ear is to regulate the interaction of the cochlea with its vasculature.

Kuno Meyer (1858-1919) and Peadar Ó Laoghaire (1839-1920)

OpenAIRE

Morrin, Olive

2016-01-01

In Special Collections we hold a reproduced copy from the June edition of Studies 1920 titled Canon Peter O’Leary and Dr. Kuno Meyer by Douglas Hyde. Their names had already been linked in June 1911 when on the same day Dublin Corporation conferred the Freedom of the City on both men and Cork City followed suit the following September. Douglas Hyde writes “It seems altogether reasonable to couple Father Peter with Dr. Kuno Meyer…….because these two, each in his own way …did work for Irish ...

[Reinhold Reith. Torsten Meyer (Hrsg.) Luxus und Konsum : eine historische Annäherung] / Raimo Pullat

Index Scriptorium Estoniae

Pullat, Raimo, 1935-

2009-01-01

Arvustus: Reith, Reinhold. Torsten Meyer (Hrsg.) Luxus und Konsum : eine historische Annäherung. Cottbuser Studien zur Geschichte von Technik, Arbeit und Umwelt. hrsg. von Günter Bayerl. Bd. 21. 2003. Collegium Johann Beckmann'i kolmanda teaduskonverentsi ettekannete kogumikust

Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.

Science.gov (United States)

Caballero, M; Veske, A; Rodriguez, J J; Lugo, N; Schroeder, B; Hesse, L; Gal, A

1996-12-01

Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness due to a degenerative and proliferative dysplasia of the neuroretina and, occasionally, by deafness and mental handicap. Here, we report two novel mutations detected in patients with the classical eye features of ND. Both the one-base pair insertion in exon II (544/545 insA) and the two-base pair deletion in the start codon (418delTG) of the ND gene predict a functional 'null allele', i.e. the complete absence of the corresponding gene product.

Cataplexy and monoamine oxidase deficiency in Norrie disease.

Science.gov (United States)

Vossler, D G; Wyler, A R; Wilkus, R J; Gardner-Walker, G; Vlcek, B W

1996-05-01

Norrie disease (ND) is an X-linked recessive disorder causing ocular atrophy, mental retardation, deafness, and dysmorphic features. Virtually absent monoamine oxidase (MAO) type-A and -B activity has been found in some boys with chromosome deletions. We report the coexistence of cataplexy and abnormal REM sleep organization with ND. Three related boys, referred for treatment of medically refractory atonic spells and apneas, underwent extended EEG-video-polysomnographic monitoring. They demonstrated attacks of cataplexy and inappropriate periods of REM sleep during which they were unarousable. One boy also had generalized tonic-clonic seizures. Previous testing revealed that all three have complete ND gene deletions. In all subjects, platelet MAO-B activity was absent, serum serotonin levels were markedly increased, and plasma catecholamine levels were normal. Data from the canine narcolepsy syndrome model implicate abnormal catecholaminergic and cholinergic activities in the pathogenesis of cataplexy. Our findings suggest that abnormal MAO activity or an imbalance between serotonin and other neurotransmitter levels may be involved in the pathogenesis of human cataplexy.

Meyer-Neldel rule for Cu (I) diffusion in In{sub 2}S{sub 3} layers

Energy Technology Data Exchange (ETDEWEB)

Juma, Albert, E-mail: albert.juma@helmholtz-berlin.de; Dittrich, Thomas [Helmholtz-Zentrum Berlin für Materialien und Energie, Hahn-Meitner-Platz 1, 14109 Berlin (Germany); Wafula, Henry [Masinde Muliro University of Science and Technology, P.O. Box 190-50100, Kakamega (Kenya); Wendler, Elke [Institut für Festkörperphysik, Friedrich-Schiller-Universität Jena, Max-Wien-Platz 1, 07743 Jena (Germany)

2014-02-07

The nature of barriers for atomic transport in In{sub 2}S{sub 3} layers has been varied by addition of chlorine. Diffusion of Cu(I) from a removable CuSCN source was used to probe the variation of the barriers. The Meyer-Neldel (compensation) rule was observed with a Meyer-Neldel energy (E{sub MN}) and a proportionality prefactor (D{sub 00}) amounting to 40 meV and 5 × 10{sup −14} cm{sup 2}/s, respectively. D{sub 00} shows that the elementary excitation step is independent of the specific mechanism and nature of the barrier including different densities of Cl in In{sub 2}S{sub 3}. The value of E{sub MN} implies that coupling of the diffusing species to an optical-phonon bath is the source of the multiple excitations supplying the energy to overcome the diffusion barriers.

Carotenoids in the cells of the alga Trentepohlia gobii Meyer

Directory of Open Access Journals (Sweden)

Bazyli Czeczuga

2014-01-01

Full Text Available Column-, and thin-layer chromatography revealed the presence of the following carotenoids in the cells of the species Trentepohlia gobii Meyer from cobbles in the river Urmi in the Badzhal mountains of Khabarovsk Territory in the Far East: ß, ß-carotene, ß, ε-carotene, ß, ß-carotene-2-ol, ß, ε-carotene-2-ol, ß, ß-carotene-2, 2'-diol, 5,6-epoxy-5,6-dihydro-ß, ß-carotene-2-ol, 5,6-epoxy-5,6-dihydro-ß, ε-carotene-2-ol and 5,6,5',6'-diepoxy-5,6,5',6'-tetrahydro-ß, ß-carotene-2,2'-diol.

G-Doob-Meyer Decomposition and Its Applications in Bid-Ask Pricing for Derivatives under Knightian Uncertainty

Directory of Open Access Journals (Sweden)

Wei Chen

2015-01-01

Full Text Available The target of this paper is to establish the bid-ask pricing framework for the American contingent claims against risky assets with G-asset price systems on the financial market under Knightian uncertainty. First, we prove G-Dooby-Meyer decomposition for G-supermartingale. Furthermore, we consider bid-ask pricing American contingent claims under Knightian uncertainty, by using G-Dooby-Meyer decomposition; we construct dynamic superhedge strategies for the optimal stopping problem and prove that the value functions of the optimal stopping problems are the bid and ask prices of the American contingent claims under Knightian uncertainty. Finally, we consider a free boundary problem, prove the strong solution existence of the free boundary problem, and derive that the value function of the optimal stopping problem is equivalent to the strong solution to the free boundary problem.

One Hundred Years of Psychiatry at Johns Hopkins: A Story of Meyer to McHugh.

Science.gov (United States)

DePaulo, J Raymond

2017-04-01

This article describes a history of clinical methods and constructs that guide Psychiatry at Johns Hopkins Phipps Clinic today. The contributions of Adolf Meyer and Paul McHugh are central and closely connected. Both emphasize the clinical examination as the central practice of psychiatry as a specialty within medicine. Meyer's comprehensive examination of the patient became the centerpiece of his approach and was the standard for psychiatrists in the English-speaking world. McHugh, with Phillip Slavney, developed a pluralistic and practical framework for interpreting that history and examination. Both argued against the uncritical use of the modern disease construct. McHugh argues that the disease construct, although fundamental, is but one of four useful "perspectives of psychiatry" and is, thus, an insufficient basis for psychiatric practice. The perspectives could be used as an organizing framework by all physicians who seek a practical and truly personalized approach to the care of patients.

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

OpenAIRE

Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo

2017-01-01

Purpose: Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. Methods: To identify the causative gene, next-generation sequencing bas...

Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

NARCIS (Netherlands)

Bergen, A. A.; Wapenaar, M. C.; Schuurman, E. J.; Diergaarde, P. J.; Lerach, H.; Monaco, A. P.; Bakker, E.; Bleeker-Wagemakers, E. M.; van Ommen, G. J.

1993-01-01

Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11.4-->p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (NDP). Combining our data with the consensus genetic

An adaptation of the MMPI-2 Meyers Index for the MMPI-2-RF.

Science.gov (United States)

Meyers, John E; Miller, Ronald M; Haws, Nathan A; Murphy-Tafiti, Jason L; Curtis, Thomas D; Rupp, Zachary W; Smart, Taylor A; Thompson, Lisa M

2014-01-01

Using an overall sample of 278 individuals who had taken the Minnesota Multiphasic Personality Inventory-Second Edition (MMPI-2) and who had clear diagnostic information available in their medical records, the Meyers Index (MI) for the MMPI-2 (Meyers, Millis, & Volkert, 2002 ) was calculated for each individual, and a new version of the MI created for the MMPI-2 Restructured Form (MMPI-2-RF) was calculated. The MI is a method of combining multiple MMPI-2 validity scales into a single weighted index to assess exaggerated self-report on the MMPI-2. The new index is intended to provide the same type of global assessment of validity but for the MMPI-2-RF (MI-r). The MI and the MI-r were compared at both individual and group levels and were found to correlate well (r = .87). Diagnostic groups of litigants and nonlitigants of traumatic brain injury, chronic pain, and posttraumatic stress disorder were also examined; and the performance of the MI and the MI-r were similar. Similarly, the pass and fail agreement rate for the two scales was 93%. The results indicate that the MI and MI-r perform very similarly and are good methods of assessing overall validity of MMPI-2 and MMPI-2-RF test performance.

Séminaire de probabilités XXXIX in memoriam Paul-André Meyer

CERN Document Server

Yor, Marc

2006-01-01

The 39th volume of Séminaire de Probabilités is a tribute to the memory of Paul André Meyer. His life and achievements are recalled; homages are rendered by his friends and colleagues. This volume also contains mathematical contributions to classical and quantum stochastic calculus, the theory of processes, martingales and their applications to mathematical finance, Brownian motion. They provide an overview on the current trends of stochastic calculus.

[Thought Experiments in Historiographic Function: Max Weber on Eduard Meyer and the Question of Counterfactuality].

Science.gov (United States)

Ernst, Florian

2015-03-01

Thought Experiments in Historiographic Function: Max Weber on Eduard Meyer and the Question of Counterfactuality. Max Weber's remarks on his colleague Eduard Meyer regarding counterfactual reasoning in history reflects a significant shift during the Methodenstreit around 1900. The question of attributing historical change strictly to either individual causes or abstract general laws has been tackled in a new way: By counterfactual reasoning a historian should be able to detect the most significant (and therefore meaningful) cause, event, or action for a certain historical outcome. Following Fritz Ringer, this paper argues that given the predominating methods of the natural sciences, scholars of the humanities conducted historical research by counterfactual thought experiments. This way, Weber pried open contemporary narratives (e.g. historicism), and by employing a unique historical causal analysis he made way for refined concepts to offer a model of interpretation that gave hope for a more feasible, practice-oriented approach to historical research than the epistemological discussions had hitherto offered. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

[Gunnar Meyer. "Besitzende Bürger" und "Elende Sieche". Lübecks Gesellschaft im Spiegel ihrer Testamente 1400-1449] / Dennis Hortmuth

Index Scriptorium Estoniae

Hormuth, Dennis

2012-01-01

Arvustus: Gunnar Meyer. "Besitzende Bürger" und "Elende Sieche". Lübecks Gesellschaft im Spiegel ihrer Testamente 1400-1449. (Verhöffentlichungen zur Geschichte der Hansestadt Lübeck. B. 48). (Lübeck, 2010)

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.

Science.gov (United States)

Collins, F A; Murphy, D L; Reiss, A L; Sims, K B; Lewis, J G; Freund, L; Karoum, F; Zhu, D; Maumenee, I H; Antonarakis, S E

1992-01-01

Norrie disease is a rare X-linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (MAOA, MAOB) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a submicroscopic deletion involving Norrie disease and MAO genes. The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotopy-habit disorder. Both obligate carrier females had a normal IQ. The propositus' mother met diagnostic criteria for "chronic hypomania and schizotypal features." The propositus' MAO activity was undetectable and the female heterozygotes had reduced levels comparable to patients receiving MAO inhibiting antidepressants. MAO substrate and metabolite abnormalities were found in the propositus' plasma and CSF. This study indicates that subtle biochemical and possibly neuropsychiatric abnormalities may be detected in some heterozygotes with the microdeletion in Xp11.3 due to loss of the gene product for the MAO genes; this deletion can also explain some of the complex phenotype of this contiguous gene syndrome in the propositus.

Mutations in the Norrie disease gene.

Science.gov (United States)

Schuback, D E; Chen, Z Y; Craig, I W; Breakefield, X O; Sims, K B

1995-01-01

We report our experience to date in mutation identification in the Norrie disease (ND) gene. We carried out mutational analysis in 26 kindreds in an attempt to identify regions presumed critical to protein function and potentially correlated with generation of the disease phenotype. All coding exons, as well as noncoding regions of exons 1 and 2, 636 nucleotides in the noncoding region of exon 3, and 197 nucleotides of 5' flanking sequence, were analyzed for single-strand conformation polymorphisms (SSCP) by polymerase chain reaction (PCR) amplification of genomic DNA. DNA fragments that showed altered SSCP band mobilities were sequenced to locate the specific mutations. In addition to three previously described submicroscopic deletions encompassing the entire ND gene, we have now identified 6 intragenic deletions, 8 missense (seven point mutations, one 9-bp deletion), 6 nonsense (three point mutations, three single bp deletions/frameshift) and one 10-bp insertion, creating an expanded repeat in the 5' noncoding region of exon 1. Thus, mutations have been identified in a total of 24 of 26 (92%) of the kindreds we have studied to date. With the exception of two different mutations, each found in two apparently unrelated kindreds, these mutations are unique and expand the genotype database. Localization of the majority of point mutations at or near cysteine residues, potentially critical in protein tertiary structure, supports a previous protein model for norrin as member of a cystine knot growth factor family (Meitinger et al., 1993). Genotype-phenotype correlations were not evident with the limited clinical data available, except in the cases of larger submicroscopic deletions associated with a more severe neurologic syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Comparative genomics on Norrie disease gene.

Science.gov (United States)

Katoh, Masuko; Katoh, Masaru

2005-05-01

DAND1 (NBL1), DAND2 (CKTSF1B1 or GREM1 or GREMLIN), DAND3 (CKTSF1B2 or GREM2 or PRDC), DAND4 (CER1), DAND5 (CKTSF1B3 or GREM3 or DANTE), MUC2, MUC5AC, MUC5B, MUC6, MUC19, WISP1, WISP2, WISP3, VWF, NOV and Norrie disease (NDP or NORRIN) genes encode proteins with cysteine knot domain. Cysteine-knot superfamily proteins regulate ligand-receptor interactions for a variety of signaling pathways implicated in embryogenesis, homeostasis, and carcinogenesis. Although Ndp is unrelated to Wnt family members, Ndp is claimed to function as a ligand for Fzd4. Here, we identified and characterized rat Ndp, cow Ndp, chicken ndp and zebrafish ndp genes by using bioinformatics. Rat Ndp gene, consisting of three exons, was located within AC105563.4 genome sequence. Cow Ndp and chicken ndp complete CDS were derived from CB467544.1 EST and BX932859.2 cDNA, respectively. Zebrafish ndp gene was located within BX572627.5 genome sequence. Rat Ndp (131 aa) was a secreted protein with C-terminal cysteine knot-like (CTCK) domain. Rat Ndp showed 100, 96.9, 95.4, 87.8 and 66.4 total-amino-acid identity with mouse Ndp, cow Ndp, human NDP, chicken ndp and zebrafish ndp, respectively. Exon-intron structure of mammalian Ndp orthologs was well conserved. FOXA2, CUTL1 (CCAAT displacement protein), LMO2, CEBPA (C/EBPalpha)-binding sites and triple POU2F1 (OCT1)-binding sites were conserved among promoters of mammalian Ndp orthologs.

Twenty years of audiology in a patient with Norrie disease.

Science.gov (United States)

Halpin, Chris; Sims, Katherine

2008-11-01

To describe disease progression and treatment outcomes over a 20-year period (ages 5-25) in a young man with Norrie disease (occuloacousticocerebral dysplasia), ND; OMIM #310600. Affected individuals are born blind and develop progressive sensory loss with onset in adolescence. This disease is X-linked and has been associated with mutations of the NDP gene (Xp11.4). The patient was followed using repeated audiograms, as well as reports of educational progress and hearing aid use. The specific mutation was found by molecular analysis. The patient demonstrated progressive sensory loss with good preservation of word recognition. The loss was initially high frequency and asymmetric in adolescence and became more severe, more symmetric and affected practically all frequencies by the end of childhood. Educational progress was affected by the cognitive effects of the syndrome, and hearing aid use was very effective. A bilateral progressive sensory loss with good preservation of word recognition was documented in detail. The residual word recognition supported good use of hearing aids in this case.

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

Science.gov (United States)

Hiraoka, M; Rossi, F; Trese, M T; Shastry, B S

2001-01-01

Juvenile retinoschisis (RS) and Norrie disease (ND) are X-linked recessive retinal disorders. Both disorders, in the majority of cases, are monogenic and are caused by mutations in the RS and ND genes, respectively. Here we report the identification of a family in which mutations in both the RS and ND genes are segregating with RS pathology. Although the mutations identified in this report were not functionally characterized with regard to their pathogenicity, it is likely that both of them are involved in RS pathology in the family analyzed. This suggests the complexity and digenic nature of monogenic human disorders in some cases. If this proves to be a widespread problem, it will complicate the strategies used to identify the genes involved in diseases and to develop methods for intervention.

Molecular dissection of Norrie disease.

Science.gov (United States)

Berger, W

1998-01-01

Norrie disease (ND) is a severe form of congenital blindness accompanied by mental retardation and/or deafness in at least one third of the patients. This article summarizes advances in the molecular genetic analysis of this disease during the last 13 years, including mapping and cloning of the human gene and the generation and characterization of a mouse model. Genetic linkage studies and physical mapping strategies have assigned the ND locus to the proximal short arm of the human X chromosome. The identification of chromosomal rearrangements in several patients, such as microdeletions, enabled the isolation of the ND gene by a positional cloning approach. Numerous point mutations in this gene have been identified in three distinct clinical entities: (1) ND, (2) familial and sporadic exudative vitreoretinopathy, and (3) retinopathy of prematurity. The gene encodes a relatively small protein, consisting of 133 amino acids. The function of the gene product is yet unknown, although homologies with known proteins and molecular modelling data suggest a role in the regulation of cell interaction or differentiation processes. A mouse model has been generated to shed more light on early pathogenic events involved in ND and allelic disorders. The mouse homologous protein is highly identical (94%) to the human polypeptide. The gene is expressed in the neuronal layers of the mouse retina, the cerebellum and olfactory epithelium. Mutant mice show snowflake-like opacities within the vitreous, dysgenesis of the ganglion cell layer and occasionally degeneration of photoreceptor cells. The mouse phenotype does not include phthisis bulbi and, overall, resembles a mild form of ND. Electrophysiological studies revealed a severely altered electroretinogram b-wave. These results suggest a primary defect in the inner neuronal layers of the retina. Defects in the vitreous and photoreceptor cell layer are most likely secondary effects. Further histological, functional and molecular

Development and validation of a short form of the Fugl-Meyer motor scale in patients with stroke.

NARCIS (Netherlands)

Hsieh, Y.W.; Hsueh, I.P.; Chou, Y.T.; Sheu, C.F.; Hsieh, C.L.; Kwakkel, G.

2007-01-01

BACKGROUND AND PURPOSE: The 50-item Fugl-Meyer motor scale (FM) is commonly used in outcome studies. However, the lengthy administration time of the FM keeps it from being widely accepted for routine clinical use. We aimed to develop a short form of the FM (the S-FM) with sound psychometric

John Norris, Collision Course: NATO, Russian and Kosovo (foreword by Strobe Talbott. Westport: Praeger Publishers, 2005. 333 pages.

Directory of Open Access Journals (Sweden)

Guillaume Colin

2006-11-01

Full Text Available Recension requires thoroughness in reading and examining a book, including its cover. In this connection, the cover of John Norris' book bodes ill for its content. A physical map with mountains, waterways, a few localities - most of which are half hidden by the title. However, enough of them can be made out (Argun, Aksay, Khasavyurt, Gudermes... to understand that this is no map of Kosovo but that of Chechnya! Could anyone fail to suspect an unfortunate mistake, a slip of the pen confirming ...

How Readers Shape the Content of an Encyclopedia: A Case Study Comparing the German Meyers Konversationslexikon (1885-1890 with Wikipedia (2002-2013

Directory of Open Access Journals (Sweden)

Ulrike Spree

2014-06-01

Full Text Available How knowledge is negotiated between the makers of encyclopedias and their audiences remains an ongoing question in research on encyclopedias. A comparative content analysis of the published answers of letters to the editor of the German Meyers Konversationslexikon (Korrespondenzblatt from 1885 and the discussion pages of the article potato of the German Wikipedia (2013 reveals continuities as well as changes in the communication between encyclopedia producers and their audiences. The main reasons why readers and editors communicate are the need for updated factual information, an exchange on editorial principles and the intellectual exchange of ideas on ideological and philosophical questions in relation to the encyclopedic content. Editors and readers attach a lot of importance to the process of verifying information through bibliographical references. Whereas, for the editors of Meyers Konversationslexikon the leading role of experts remains undisputed, Wikipedians work in a contradictory situation. They are on the one hand exposing knowledge production to a permanent process of negotiation, thereby challenging the role of experts, on the other hand relying strongly on bibliographical authorities. Whilst the reasons for the communication between readers and editors of Meyers Konversationslexikon and among Wikipedia contributors coincide, the understanding of the roles of readers and editors differ. The editors of the Korrespondenzblatt keep up a lecturing attitude. As opposed to this, administrators in Wikipedia want to encourage participation and strive to develop expertise among the participating contributors. Albeit power relations between administrators, regular authors, occasional authors and readers continue to exist they are comparatively flat and transient. Regardless of these differences, the comparison between Meyers Konversationslexikon and Wikipedia indicates that the sine qua non for activating an upwards spiral of quality

The Unifying Strands: Formalism and Gestalt Theory in the Musical Philosophies of Aristoxenus, Descartes, and Meyer

Directory of Open Access Journals (Sweden)

Amanda N. Staufer

2018-03-01

Full Text Available In every age, philosophers deal with inquiries concerning musical meaning and the effect of music on the listener. Instead of answering the formidable question of musical meaning, this essay demonstrates the parallel aspects of three musical theories from ancient, Enlightenment, and modern times. Using the two criteria of musical formalism and Gestalt Theory, this essay systematically connects the philosophies of Aristoxenus of Tarentum, René Descartes, and Leonard Meyer. Musical formalism holds that music’s nature is innate, self-evident, able to be systematically deduced, and rational. According to formalism, musical meaning is defined by things objectively ‘there’ in the music, musical experience relies on cognition, and music is less a matter of sense than of mind. Gestalt Theory asserts that music is a unified totality—the whole gives meaning to the parts. This project demonstrates that three seemingly dissimilar musical philosophies include and prefigure the same foundational principles, although the theories reach different conclusions about musical meaning. In the research process, this essay utilizes documentary evidence. This essay concludes that the philosophies of Aristoxenus, Descartes, and Meyer are united by tendencies toward musical formalism and strands of the Gestalt view of music.

Formaldehyde as a carbon and electron shuttle between autotroph and heterotroph populations in acidic hydrothermal vents of Norris Geyser Basin, Yellowstone National Park

Energy Technology Data Exchange (ETDEWEB)

Moran, James J.; Whitmore, Laura M.; Isern, Nancy G.; Romine, Margaret F.; Riha, Krystin M.; Inskeep, William P.; Kreuzer, Helen W.

2016-03-19

The Norris Geyser Basin in Yellowstone National Park contains a large number of hydrothermal systems, which host microbial populations supported by primary productivity associated with a suite of chemolithotrophic metabolisms. We demonstrate that Metallosphaera yellowstonesis MK1, a facultative autotrophic archaeon isolated from a hyperthermal acidic hydrous ferric oxide (HFO) spring in Norris Geyser Basin, excretes formaldehyde during autotrophic growth. To determine the fate of formaldehyde in this low organic carbon environment, we incubated native microbial mat (containing M. yellowstonensis) from a HFO spring with 13C-formaldehyde. Isotopic analysis of incubation-derived CO2 and biomass showed that formaldehyde was both oxidized and assimilated by members of the community. Autotrophy, formaldehyde oxidation, and formaldehyde assimilation displayed different sensitivities to chemical inhibitors, suggesting that distinct sub-populations in the mat selectively perform these functions. Our results demonstrate that electrons originally resulting from iron oxidation can energetically fuel autotrophic carbon fixation and associated formaldehyde excretion, and that formaldehyde is both oxidized and assimilated by different organisms within the native microbial community. Thus, formaldehyde can effectively act as a carbon and electron shuttle connecting the autotrophic, iron oxidizing members with associated heterotrophic members in the HFO community.

Macromolecules and Enzymes: The Geneva Heritage from Kurt H. Meyer and Edmond H. Fischer.

Science.gov (United States)

Fischer, Edmond H; Piguet, Alfred

2009-12-01

On the 26th May 2009, Edmond Fischer, winner with Ed Krebs of the Nobel prize in physiology or medicine in 1992, and his colleague at the time of his research activities at the Ecole de chimie of the University of Geneva, Alfred Piguet, met with Andreas Hauser, Claude Piguet and Howard Riezman of the Section de chimie et biochimie of the University of Geneva to talk about how they became scientists under the impetus of Kurt H. Meyer and what became of them thereafter.

Experiencias de urbanismo: los proyectos urbanos de Hannes Meyer en México (1938-1949)

OpenAIRE

Raquel Franklin Unkind

2013-01-01

Hannes Meyer arrived in Mexico in 1938 to take part in the XVIth International Housing and Town Planning Congress. One year later he founded the Institute for Urban Development and Planning and stayed in Mexico for the next ten years undertaking various urban projects such as the Lomas de Becerra Apartment Block, the Corpus Christi block, and the Agua Hedionda beach resort. Each one of these is the result of a dialectic process with his previous phases of work in which it is possible to see e...

Norrie disease and MAO genes: nearest neighbors.

Science.gov (United States)

Chen, Z Y; Denney, R M; Breakefield, X O

1995-01-01

The Norrie disease and MAO genes are tandemly arranged in the p11.4-p11.3 region of the human X chromosome in the order tel-MAOA-MAOB-NDP-cent. This relationship is conserved in the mouse in the order tel-MAOB-MAOA-NDP-cent. The MAO genes appear to have arisen by tandem duplication of an ancestral MAO gene, but their positional relationship to NDP appears to be random. Distinctive X-linked syndromes have been described for mutations in the MAOA and NDP genes, and in addition, individuals have been identified with contiguous gene syndromes due to chromosomal deletions which encompass two or three of these genes. Loss of function of the NDP gene causes a syndrome of congenital blindness and progressive hearing loss, sometimes accompanied by signs of CNS dysfunction, including variable mental retardation and psychiatric symptoms. Other mutations in the NDP gene have been found to underlie another X-linked eye disease, exudative vitreo-retinopathy. An MAOA deficiency state has been described in one family to date, with features of altered amine and amine metabolite levels, low normal intelligence, apparent difficulty in impulse control and cardiovascular difficulty in affected males. A contiguous gene syndrome in which all three genes are lacking, as well as other as yet unidentified flanking genes, results in severe mental retardation, small stature, seizures and congenital blindness, as well as altered amine and amine metabolites. Issues that remain to be resolved are the function of the NDP gene product, the frequency and phenotype of the MAOA deficiency state, and the possible occurrence and phenotype of an MAOB deficiency state.

VizieR Online Data Catalog: AIMSS Project. I. Compact Stellar Systems (Norris+, 2014)

Science.gov (United States)

Norris, M. A.; Kannappan, S. J.; Forbes, D. A.; Romanowsky, A. J.; Brodie, J. P.; Faifer, F. R.; Huxor, A.; Maraston, C.; Moffett, A. J.; Penny, S. J.; Pota, V.; Smith-Castelli, A.; Strader, J.; Bradley, D.; Eckert, K. D.; Fohring, D.; McBride, J.; Stark, D. V.; Vaduvescu, O.

2015-04-01

The majority of our southern spectroscopic observations to date have been obtained using the Southern Astrophysical Research (SOAR) Telescope and the Goodman spectrograph in longslit and MOS modes. We used the South African Large Telescope (SALT) to observe fainter targets requiring exposure times impractically long to be used as filler targets for SOAR observing and which cannot be observed with Keck. As part of a study examining the GCs and UCDs of the shell elliptical NGC 3923 we obtained deep Gemini/GMOS spectroscopy of three UCDs (see Norris et al., 2012MNRAS.421.1485N, Cat. J/MNRAS/421/1485 for further details). The observations were made in MOS mode. The majority of our Northern hemisphere candidates were spectroscopically confirmed using the DEIMOS and ESI instruments on the Keck telescope . We also obtained spectra of NGC 4649 UCD1 with the IDS instrument on the Isaac Newton Telescope. (2 data files).

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.

Science.gov (United States)

Talebi, Farah; Ghanbari Mardasi, Farideh; Mohammadi Asl, Javad; Lashgari, Ali; Farhadi, Freidoon

2018-07-01

Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome (Xp11.3). The disease has been observed in many ethnic groups worldwide, however, no such case has been reported from Iran. In this study, we present the molecular analysis of two patients with ND and the subsequent prenatal diagnosis. Screening of NDP identified a hemizygous missense mutation (p.Ser133Cys) in the affected male siblings of the family. The mother was the carrier for the mutation (p.Ser133Cys). In a subsequent chorionic amniotic pregnancy, we carried out prenatal diagnosis by sequencing NDP in the chorionic villi sample at 11 weeks of gestation. The fetus was carrying the mutation and thus unaffected. This is the first mutation report and prenatal diagnosis of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling. Copyright© by Royan Institute. All rights reserved.

Post-stroke motor and functional evaluations: a clinical correlation using Fugl-Meyer assessment scale, Berg balance scale and Barthel index Avaliações motoras e funcionais pós-AVC: correlação clínica usando a escala de desempenho físico de Fugl-Meyer, a escala de equilíbrio de Berg e o índice de Barthel

Directory of Open Access Journals (Sweden)

Roberta de Oliveira

2006-09-01

Full Text Available Stroke is one of the major causes of morbidity and mortality. Sequels deriving from this event may lead to motor disability and from mild to severe deficits. In order to better classify sensory-motor dysfunction, balance and ability to perform activities of daily living, quantitative and qualitative evaluation scales have been used. OBJECTIVE: To correlate the scales Fugl-Meyer assessment scale, Berg balance scale and Barthel index. Twenty subjects with sequel after a single, unilateral stroke in chronic phase (>6 months post ictus were evaluated for about one hour. RESULTS: Barthel scale was statistically related to the total motor score of Fugl-Meyer assessment (r=0.597, p=0.005. The lower limb section at Fugl-Meyer had positive correlation with Berg scale (r=0.653, p=0.002 and with the balance section of Fugl-Meyer own scale (r=0.449, p=0.047. Both balance scales were correlated one with other (r=0.555, p=0.011. Statistical divergence appeared when Barthel's Index was correlated with Berg's Scale (r=0.425, p=0.062, and it is not statistically significant. CONCLUSION: The use of both quantitative and qualitative scales was shown to be a good measuring instrument for the classification of the general clinical performance of the patient, especially when positively related joint evaluations are applied.O acidente vascular cerebral (AVC é reconhecido como uma das maiores causas de morbidade e mortalidade. Seqüelas decorrentes deste evento podem levar a inabilidade motora e déficits leves a graves. Para classificar melhor a disfunção sensitivo-motora, o equilíbrio e as habilidades para as atividades de vida diária, escalas de avaliações quantitativas e qualitativas estão sendo utilizadas. OBJETIVO: Correlacionar a escala de desempenho físico de Fugl-Meyer, a escala de equilíbrio de Berg e o índice de Barthel. MÉTODO: Foram selecionados 20 sujeitos com sequela de um único e unilateral AVC em fase crônica (>6 meses pós ictal, que

Bethe, Oppenheimer, Teller and the Fermi Award: Norris Bradbury Speaks

Energy Technology Data Exchange (ETDEWEB)

Meade, Roger Allen [Los Alamos National Lab. (LANL), Los Alamos, NM (United States)

2017-04-28

In 1956 the Enrico Fermi Presidential Award was established to recognize scientists, engineers, and science policymakers who gave unstintingly over their careers to advance energy science and technology. The first recipient was John von Neumann. .1 Among those scientists who were thought eligible for the award were Hans Bethe, J. Robert Oppenheimer, and Edward Teller. In 1959 Norris Bradbury was asked to comment on the relative merits of each these three men, whom he knew well from their affiliation with Los Alamos. Below is a reproduction of the letter Bradbury sent to Dr. Warren C. Johnson of the AEC’s General Advisory Committee(GAC) containing his evaluation of each man. The letter might surprise those not accustomed to Bradbury’s modus operandi of providing very detailed and forthright answers to the AEC. The letter, itself, was found in cache of old microfilm. Whether because of the age of the microfilm or the quality of the filming process, portions of the letter are not legible. Where empty brackets appear, the word or words could not be read or deduced. Words appearing in brackets are guesses that appear, from the image, to be what was written. These guesses, of course, are just that – guesses.

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.

Science.gov (United States)

Gal, A; Wieringa, B; Smeets, D F; Bleeker-Wagemakers, L; Ropers, H H

1986-01-01

Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequences on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.

Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.

Science.gov (United States)

Yamada, K; Limprasert, P; Ratanasukon, M; Tengtrisorn, S; Yingchareonpukdee, J; Vasiknanonte, P; Kitaoka, T; Ghadami, M; Niikawa, N; Kishino, T

2001-04-15

We describe two Thai families with Norrie disease (ND) in three generations, including 10 affected males and one manifesting female. All affected males in each family had severely defective eye development with complete loss of vision. In addition, three male patients (one from family 1 and two from family 2) suffered from epilepsy, and one female carrier from one family manifested blindness with phthisis bulbi in her right eye. Mutation analysis of the ND gene (NDP) revealed two different novel missense mutations (L16P and S75P) that co-segregated with ND in each family, suggesting that the newly appearing proline at codon 16 or codon 75 alters the conformation of the ND protein and contributes to the severe phenotype of ND in each family. Other studies suggest that epileptic seizures or growth retardation that is associated with ND is the consequence of loss of contiguous genes, because most such patients had deletions extending beyond the Norrie locus. Our finding that the three affected males in the two families with the missense mutations had epilepsy does not support a contiguous gene effect, but favors the pleiotropism of NDP, at least as far as the epileptic manifestation is concerned. The unilateral blindness in the female carrier may have been due to non-random X-inactivation. Copyright 2001 Wiley-Liss, Inc.

Experiencias de urbanismo: los proyectos urbanos de Hannes Meyer en México (1938-1949

Directory of Open Access Journals (Sweden)

Raquel Franklin Unkind

2013-07-01

Full Text Available Hannes Meyer arrived in Mexico in 1938 to take part in the XVIth International Housing and Town Planning Congress. One year later he founded the Institute for Urban Development and Planning and stayed in Mexico for the next ten years undertaking various urban projects such as the Lomas de Becerra Apartment Block, the Corpus Christi block, and the Agua Hedionda beach resort. Each one of these is the result of a dialectic process with his previous phases of work in which it is possible to see elements such as his Swiss-German and Soviet ideas. Over this article his emphasis on science will be highlighted.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Science.gov (United States)

Nikopoulos, Konstantinos; Venselaar, Hanka; Collin, Rob W J; Riveiro-Alvarez, Rosa; Boonstra, F Nienke; Hooymans, Johanna M M; Mukhopadhyay, Arijit; Shears, Deborah; van Bers, Marleen; de Wijs, Ilse J; van Essen, Anthonie J; Sijmons, Rolf H; Tilanus, Mauk A D; van Nouhuys, C Erik; Ayuso, Carmen; Hoefsloot, Lies H; Cremers, Frans P M

2010-06-01

Wnt signaling is a crucial component of the cell machinery orchestrating a series of physiological processes such as cell survival, proliferation, and migration. Among the plethora of roles that Wnt signaling plays, its canonical branch regulates eye organogenesis and angiogenesis. Mutations in the genes encoding the low density lipoprotein receptor protein 5 (LRP5) and frizzled 4 (FZD4), acting as coreceptors for Wnt ligands, cause familial exudative vitreoretinopathy (FEVR). Moreover, mutations in the gene encoding NDP, a ligand for these Wnt receptors, cause Norrie disease and FEVR. Both FEVR and Norrie disease share similar phenotypic characteristics, including abnormal vascularization of the peripheral retina and formation of fibrovascular masses in the eye that can lead to blindness. In this mutation update, we report 21 novel variants for FZD4, LRP5, and NDP, and discuss the putative functional consequences of missense mutations. In addition, we provide a comprehensive overview of all previously published variants in the aforementioned genes and summarize the phenotypic characteristics in mouse models carrying mutations in the orthologous genes. The increasing molecular understanding of Wnt signaling, related to ocular development and blood supply, offers more tools for accurate disease diagnosis that may be important in the development of therapeutic interventions.

A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.

Science.gov (United States)

Jia, Bei; Huang, Liping; Chen, Yaoyu; Liu, Siping; Chen, Cuihua; Xiong, Ke; Song, Lanlin; Zhou, Yulai; Yang, Xinping; Zhong, Mei

2017-12-01

Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability.We detected a deletion of 494.6 kb atXp11.3 in both the proband and carrier mother. This deletionwas then used as the molecular marker in prenatal diagnosis for two subsequent pregnancies. The deletion was absent in one of the foetuses, who remain without any abnormalities at 2 years of age. The proband shows the typical ocular clinical features of ND including bilateral retinal detachment, microphthalmia, atrophic irides, corneal opacification, and cataracts, but no symptoms of microcephaly, intellectual disability, and epilepsy. This familial study demonstrates that a deficiency in one of two MAO genes may not lead to psychomotor delay, and deletion of EFHC2 may not cause epilepsy. Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of ND.

Beyond "objective" and "projective": a logical system for classifying psychological tests: comment on Meyer and Kurtz (2006).

Science.gov (United States)

Wagner, Edwin E

2008-07-01

I present a formal system that accounts for the misleading distinction between tests formerly termed objective and projective, duly noted by Meyer and Kurtz (2006). Three principles of Response Rightness, Response Latitude and Stimulus Ambiguity are shown to govern, in combination, the formal operating characteristics of tests, producing inevitable overlap between "objective" and "projective" tests and creating at least three "types" of tests historically regarded as being projective in nature. The system resolves many past issues regarding test classification and can be generalized to include all psychological tests.

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

Science.gov (United States)

Berger, W; van de Pol, D; Bächner, D; Oerlemans, F; Winkens, H; Hameister, H; Wieringa, B; Hendriks, W; Ropers, H H

1996-01-01

In order to elucidate the cellular and molecular processes which are involved in Norrie disease (ND), we have used gene targeting technology to generate ND mutant mice. The murine homologue of the ND gene was cloned and shown to encode a polypeptide that shares 94% of the amino acid sequence with its human counterpart. RNA in situ hybridization revealed expression in retina, brain and the olfactory bulb and epithelium of 2 week old mice. Hemizygous mice carrying a replacement mutation in exon 2 of the ND gene developed retrolental structures in the vitreous body and showed an overall disorganization of the retinal ganglion cell layer. The outer plexiform layer disappears occasionally, resulting in a juxtaposed inner and outer nuclear layer. At the same regions, the outer segments of the photoreceptor cell layer are no longer present. These ocular findings are consistent with observations in ND patients and the generated mouse line provides a faithful model for study of early pathogenic events in this severe X-linked recessive neurological disorder.

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.

Science.gov (United States)

Shastry, B S; Pendergast, S D; Hartzer, M K; Liu, X; Trese, M T

1997-05-01

Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5). X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been associated with mutations in the Norrie disease (ND) gene in some cases. To determine if similar mutations in the ND gene may play a role in the development of advanced ROP. Clinical examination and molecular genetic analysis were performed on 16 children, including 2 dizygotic and 1 monozygotic twin pairs, and their parents from 13 families. Sequencing of the amplified products revealed missense mutations (R121W and L108P) in the third exon of the ND gene in 4 patients. These mutations were not present in an unaffected premature twin, 2 children with regressed stage 3 ROP, the parents, or in 50 unrelated healthy control subjects. These findings suggest that mutations in the ND gene may play a role in the development of severe ROP in premature infants.

Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.

Science.gov (United States)

Bateman, J B; Kojis, T L; Cantor, R M; Heinzmann, C; Ngo, J T; Spence, M A; Inana, G; Kivlin, J D; Curtis, D; Sparkes, R S

1993-01-01

Norrie disease is a rare disease of newborn males caused by prenatal or perinatal retinal detachment, which may be associated with mental retardation, psychosis, and/or hearing loss. DXS7 (L1.28) and MAO A and B loci have been linked to the ND locus on the short arm of the X chromosome. Sequences homologous to OAT also have been mapped to the short arm of the X chromosome. We performed linkage analyses between the ND locus and one of the OAT-like clusters of sequences on the X chromosome (OATL1), using a ScaI RFLP in a ND family, and increased the previously calculated lod score (z) to over 3 (3.38; theta = 0.05). Similarly, we calculated a lod score of 4.06 (theta = 0.01) between the OATL1 and DXS7 loci. Alone, the OATL1 ScaI RFLP system is expected to be informative in 48% of females. If this system were used in combination with the DXS7 TaqI polymorphism, 71% of females would be informative for at least one of the markers and 21% would be informative for both. Because the OATL1 ScaI RFLP is a relatively common polymorphism, this system should be useful for the identification of ND carriers and affected male fetuses and newborns.

The Responsiveness and Correlation between Fugl-Meyer Assessment, Motor Status Scale, and the Action Research Arm Test in Chronic Stroke with Upper-Extremity Rehabilitation Robotic Training

Science.gov (United States)

Wei, Xi-Jun; Tong, Kai-yu; Hu, Xiao-ling

2011-01-01

Responsiveness of clinical assessments is an important element in the report of clinical effectiveness after rehabilitation. The correlation could reflect the validity of assessments as an indication of clinical performance before and after interventions. This study investigated the correlation and responsiveness of Fugl-Meyer Assessment (FMA),…

Imagens das colônias da empresa de colonização Meyer no Rio Grande do Sul, 1906

Directory of Open Access Journals (Sweden)

Rosane Marcia Neumann

2013-04-01

Full Text Available Esse artigo, a partir da análise do prospecto fotográfico Ansichten aus Dr. Herrmann Meyers Ackerbaukolonien Neu-Württemberg und Xingu in Rio Grande do Sul (Südbrasilien, editado pelo Instituto Bibliográfico de Leipzig, em 1906, discute o uso da fotografia pela Empresa de Colonização Dr. Herrmann Meyercomo suporte para a divulgação de seu projeto de colonização, e o modo pelo qual representou as suas colônias e os seus colonos.

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

Science.gov (United States)

Huang, Xiaoyan; Tian, Mao; Li, Jiankang; Cui, Ling; Li, Min; Zhang, Jianguo

2017-11-01

Norrie disease (ND) is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. We identified a novel missense variant (c.314C>A) located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

Directory of Open Access Journals (Sweden)

Xiaoyan Huang

2017-01-01

Full Text Available Purpose: Norrie disease (ND is a rare X-linked genetic disorder, the main symptoms of which are congenital blindness and white pupils. It has been reported that ND is caused by mutations in the NDP gene. Although many mutations in NDP have been reported, the genetic cause for many patients remains unknown. In this study, the aim is to investigate the genetic defect in a five-generation family with typical symptoms of ND. Methods: To identify the causative gene, next-generation sequencing based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members using Sanger sequencing. Results: We identified a novel missense variant (c.314C>A located within the NDP gene. The mutation cosegregated within all affected individuals in the family and was not found in unaffected members. By happenstance, in this family, we also detected a known pathogenic variant of retinitis pigmentosa in a healthy individual. Conclusion: c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of ND.

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome.

Science.gov (United States)

Parkes, J D

1999-06-01

Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the Prader-Willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.

Drying kinetic of tucum fruits (Astrocaryum aculeatum Meyer): physicochemical and functional properties characterization.

Science.gov (United States)

Silva, Michele Bezerra; Perez, Victor Haber; Pereira, Nádia Rosa; Silveira, Thays da Costa; da Silva, Nathalia Ribeiro Ferreira; de Andrade, Cristilane Macharete; Sampaio, Romildo Martins

2018-05-01

The aim of the present study was to assess the drying kinetic of tucum fruits (epicarp and mesocarp) Astrocaryum aculeatum Meyer at three different temperatures (50, 60, and 70 °C). The physicochemical characterization, water activity, moisture content, including β-carotene and vitamin C content in - natura and dried fruits were analyzed. The fruit fractions presented high β-carotene, protein and lipid levels. Fatty acid profile showed oleic acid as the major fatty acid. Different mathematical models were computed to assess the drying process. The Page model was observed to be the best to describe the drying kinetic with the highest correlation coefficient ( R 2 ) 0.99 and the least Chi squared ( χ 2 ) close to 10 5 at the studied temperatures. The drying process reduced water activity to desirable levels in all trials and β-carotene retentions after drying remained at satisfactory levels, fact that resulted in minimum value of 63% and approximately 94% in some cases. Vitamin C retention was comparatively more around 20-40% compared to control.

Base Input - Enrollment and Graduation Data for Naval Postgraduate School for the School of Business and Public Policy, Meyer Institute of Systems Engineering, and PhD Grads by curriculum by year.

OpenAIRE

2005-01-01

Graphs of Base Input - Enrollment and Graduation Data for Naval Postgraduate School for the School of Business and Public Policy, Meyer Institute of Systems Engineering, and PhD Grads by curriculum by year.

Evidence of tutoring in the development of subsong in newly-fledged Meyer's Parrots Poicephalus meyeri

Directory of Open Access Journals (Sweden)

Simone Masin

2004-06-01

Full Text Available Subsongs are vocal trials uttered by young birds to practice songs. Among songbirds, subsongs are displayed by individuals in their first year of life. Studies on Zebra Finches Poephila guttata suggest that the juveniles learn their songs from a vocal tutor, their father. In this study we examine the subsongs in six captive-born Meyer's Parrots Poicephalus meyeri, from fledging time to weaning. Recordings of songs from chicks and fathers were analyzed for similarities in frequency and time parameters. With age, the subsongs of the chicks became more similar to the vocalizations of the fathers with 20% similarity rating in the first week after fledging to 100% at weaning time. Moreover, fledged chicks were exposed to a wide range of stimuli from several species of parrots breeding pairs caged nearby but chicks exclusively learned their fathers' songs. Our data support the hypothesis that Meyer's Parrots are vocal learners and use their father as their tutor.Os ''subsongs'' são ensaios vocais emitidos pelas aves jovens para exercitar suas vozes. Nos pássaros canoros, ''subsongs'' são exibidos por indivíduos em seu primeiro ano de vida. Estudos com Poephila guttata sugerem que os jovens aprendem seus cantos de um tutor vocal, seu pai. Neste trabalho examinamos os ''subsongs'' em seis papagaios Poicephalus meyeri nascidos em cativeiro, desde a saída do ninho até a emancipação. Gravações dos cantos dos filhotes e dos pais foram analisadas para medir as similaridades nos parâmetros de freqüência e tempo. Com a idade, os ''subsongs'' dos filhotes viraram mais semelhantes às vocalizações dos pais, com 20% de similaridade na primeira semana após a saída do ninho até 100% na hora da emancipação. Ademais, os filhotes foram expostos a uma grande variedade de estímulos de várias outras espécies de papagaios nidificando em gaiolas vizinhas, mas eles aprenderam somente os cantos de seus pais. Nossos dados confirmam a hipótese de que

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.

Science.gov (United States)

Khan, Arif O; Aldahmesh, Mohammed A; Meyer, Brian

2008-04-01

To correlate ophthalmic findings with carrier status for a severe Norrie disease (ND) gene mutation (C95F). Prospective interventional case series. Six potential carriers and 1 obligate carrier from a family harboring the mutation. An ophthalmologist blind to the pedigree performed a full ophthalmic examination for the 7 asymptomatic family members. A peripheral blood sample was collected from each for ND gene sequencing. Ophthalmic examination findings (with attention to the presence or absence of retinal findings) and results of ND gene sequencing. Three carriers were identified by molecular genetics, and all 3 of them had peripheral retinal abnormality. However, 3 of the 4 genetically identified noncarriers also exhibited peripheral retinal abnormality. Two of these noncarriers with retinal findings were the offspring of a confirmed noncarrier. The genetically identified noncarrier with a normal peripheral retinal examination was the daughter of an obligate carrier. The presence of peripheral retinal changes was not useful for carrier prediction in a family harboring ND. There are likely additional loci responsible for phenotypic expression.

Pipeline corridors through wetlands -- Impacts on plant communities: Norris Brook Crossing Peabody, Massachusetts

Energy Technology Data Exchange (ETDEWEB)

Shem, L.M.; Van Dyke, G.D.; Zimmerman, R.E. [Argonne National Lab., IL (United States)

1994-12-01

The goal of the Gas Research Institute Wetland Corridors Program is to document impacts of existing pipelines on the wetlands they traverse. To accomplish this goal, 12 existing wetland crossings were surveyed. These sites varied in elapsed time since pipeline construction, wetland type, pipeline installation techniques, and right-of-way (ROW) management practices. This report presents the results of a survey conducted August 17--19, 1992, at the Norris Brook crossing in the town of Peabody, Essex County, Massachusetts. The pipeline at this site was installed during September and October 1990. A backhoe was used to install the pipeline. The pipe was assembled on the adjacent upland and slid into the trench, after which the backhoe was used again to fill the trench and cover the pipeline. Within two years after pipeline construction, a dense vegetative community, composed predominantly of native perennial species, had become established on the ROW. Compared with adjacent natural areas undisturbed by pipeline installation, there was an increase in purple loosestrife and cattail within the ROW, while large woody species were excluded from the ROW. As a result of the ROW`s presence, habitat diversity, edge-type habitat, and species diversity increased within the site. Crooked-stem aster, Aster prenanthoides (a species on the Massasschusetts list of plants of special concern), occurred in low numbers in the adjacent natural areas and had reinvaded the ROW in low numbers.

Overproduction and partial purification of the Norrie disease gene product, norrin, from a recombinant baculovirus.

Science.gov (United States)

Shastry, Barkur S; Trese, Michael T

2003-12-05

Abnormal vascularization of the peripheral retina and retinal detachment are common clinical characteristics of Norrie disease (ND), familial exudative vitreoretinopathy, Coats' disease, and retinopathy of prematurity. Although little is known about the molecular basis of these diseases, studies have shown that all of these diseases are associated with mutations in the ND gene. In spite of this, little is known about norrin, its molecular mechanism of action, and its functional relationship with the development of abnormal retinal vasculature. To obtain a large quantity of norrin for structural and functional studies, we have overproduced it in insect cells. For this purpose, a cDNA fragment (869 bp) was isolated from a human retinal cDNA library by amplification and was cloned into an expression vector. The purified plasmid was co-transfected with wild-type linearized Bac-N-Blue DNA into S. frugiperda Sf21 insect cells. The recombinant virus plaques were purified and clones were selected based on the level of recombinant protein expressed in Sf21 cells infected with a purified recombinant virus. From these, a high-titer stock was generated and subsequently used to prepare a fused protein on a large scale. The protein was partially purified by the process of immobilized metal affinity chromatography and the use of ion exchange chromatography

The Munroe-Meyer Approach: Continuous Integration of Didactic Instruction, Research, and Clinical Practice.

Science.gov (United States)

Zangrillo, Amanda N; Warzak, William J; Volkert, Valerie M; Valleley, Rachel J; Shriver, Mark D; Rodriguez, Nicole M; Roberts, Holly J; Piazza, Cathleen C; Peterson, Kathryn M; Milnes, Suzanne M; Menousek, Kathryn M; Mathews, Terri L; Luczynski, Kevin C; Kupzyk, Sara S; Kuhn, Brett R; Higgins, William J; Grennan, Allison O; Greer, Brian D; Fisher, Wayne W; Evans, Joseph H; Allen, Keith D

2016-05-01

Increased demand for applied behavior analysis (ABA) services has increased the need for additional masters-level practitioners and doctoral-level academicians and clinical directors. Based on these needs, the University of Nebraska Medical Center's (UNMC) Munroe-Meyer Institute has developed a PhD program. The academic structure at UNMC allowed us to create our PhD program in a relatively quick and efficient manner. Our PhD program has many unique features, including (a) close integration of didactic instruction with clinical and research training provided by leading experts in ABA in which students immediately apply concepts introduced in the classroom during coordinated clinical and research practica; (b) structured grant writing training in which students learn to write and submit an NIH-level grant; (c) financial support in the form of a stipend of $23,400 per year, free health benefits, and a full-tuition waiver for up to 12 credits per semester for UNMC courses (a benefits package worth approximately $50,000 per year for an out-of-state student); and (d) encouragement and financial support to present papers at local, regional, and national behavior analysis conferences.

A survey of the effect of organizational culture on organizational commitment based on Allen and Meyer model (Case study: High school teachers of Bandpey region)

OpenAIRE

Ali Asghar Firuzjaeyan; Mojtaba Firuzjaeyan; Behdad Sadeghi

2015-01-01

The present study aimed to investigate the effect of organizational culture on organizational commitment of teachers. in this study Organizational commitment is based on Allen and Meyer: affective, continuance and normative commitment. The studied organizational culture is based on Denison four-dimension theory. Adaptability, Mission, Involvement and Consistency. Due to a few empirical studies in this region, the data were collected among 156 teachers of Bandpay region. The data were collecte...

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Science.gov (United States)

Lev, Dorit; Weigl, Yuval; Hasan, Mariana; Gak, Eva; Davidovich, Michael; Vinkler, Chana; Leshinsky-Silver, Esther; Lerman-Sagie, Tally; Watemberg, Nathan

2007-05-01

Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness and in some cases, mental retardation and deafness. Other neurological complications, particularly epilepsy, are rare. We report on a novel mutation identified in a patient with ND and profound mental retardation. The patient was diagnosed at the age of 6 months due to congenital blindness. At the age of 8 months he developed infantile spasms, which were diagnosed at 11 months as his EEG demonstrated hypsarrhythmia. Mutation analysis of the ND gene (NDP) of the affected child and his mother revealed a novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E. To the best of our knowledge, such severe neurological involvement has not been previously reported in ND patients. The severity of the phenotype may suggest the functional importance of this site of the NDP gene.

Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain.

Science.gov (United States)

Ye, Xin; Smallwood, Philip; Nathans, Jeremy

2011-01-01

The Norrie disease gene (Ndp) codes for a secreted protein, Norrin, that activates canonical Wnt signaling by binding to its receptor, Frizzled-4. This signaling system is required for normal vascular development in the retina and for vascular survival in the cochlea. In mammals, the pattern of Ndp expression beyond the retina is poorly defined due to the low abundance of Norrin mRNA and protein. Here, we characterize Ndp expression during mouse development by studying a knock-in mouse that carries the coding sequence of human placental alkaline phosphatase (AP) inserted at the Ndp locus (Ndp(AP)). In the CNS, Ndp(AP) expression is apparent by E10.5 and is dynamic and complex. The anatomically delimited regions of Ndp(AP) expression observed prenatally in the CNS are replaced postnatally by widespread expression in astrocytes in the forebrain and midbrain, Bergman glia in the cerebellum, and Müller glia in the retina. In the developing and adult cochlea, Ndp(AP) expression is closely associated with two densely vascularized regions, the stria vascularis and a capillary plexus between the organ of Corti and the spiral ganglion. These observations suggest the possibility that Norrin may have developmental and/or homeostatic functions beyond the retina and cochlea. Copyright © 2010 Elsevier B.V. All rights reserved.

Leituras de Grande sertão: veredas:* sua tradução alemã e a correspondência de Guimarães Rosa com seu tradutor alemão Curt Meyer-Clason Readings of Grande sertão: veredas: its German translation and the letter exchange between Guimarães Rosa and his German translator Curt Meyer- Clason

Directory of Open Access Journals (Sweden)

Fábio Luís Chiqueto Barbosa

2010-12-01

Full Text Available O presente artigo organiza-se em torno de dois eixos principais. Tratase,no primeiro, da rápida discussão de aspectos relativos ao estudo dedocumentos epistolares como fonte de pesquisa e da apresentação do caso dacorrespondência trocada entre João Guimarães Rosa e seu tradutor alemãoCurt Meyer-Clason. Na sequência são apresentados elementos que, combase na análise de documentos publicados e de documentos inéditos, levam àconsideração aspectos da obra e do fazer poético do autor ainda não ponderadospublicamente pela crítica especializada.The present article gets organized around two main axles. The first one brieflypresents a discussion of aspects related to the study of epistolary documents as research source and discusses some issues of the correspondence exchangedbetween João Guimarães Rosa and his German translator Curt Meyer-Clason.In the sequence, elements are presented that, on basis of an analysis ofpublished and unpublished letters, lead one to the consideration of work pointsand author’s poiësis aspects not yet openly considered by the specializedcriticism on him.

An olfactory receptor from Apolygus lucorum (Meyer-Dur) mainly tuned to volatiles from flowering host plants.

Science.gov (United States)

Yan, Shu-Wei; Zhang, Jin; Liu, Yang; Li, Guo-Qing; Wang, Gui-Rong

2015-08-01

Apolygus lucorum (Meyer-Dür) (Hemiptera: Miridae) is one of the most serious agricultural pests, feeding on a wide range of cultivated plants, including cotton, cereals and vegetables in the north of China. This insect can frequently switch between habitats and host plants over seasons and prefer plants in bloom. A. lucorum relies heavily on olfaction to locate its host plants finely discriminating different plant volatiles in the environment. Despite its economical importance, research on the olfactory system of this species has been so far very limited. In this study, we have identified and characterized an olfactory receptor which is sensitively tuned to (Z)-3-Hexenyl acetate and several flowering compounds. Besides being present in the bouquet of some flowers, these compounds are produced by plants that have suffered attacks and are supposed to act as chemical messengers between plants. This OR may play an important role in the selection of host plants. Copyright © 2015 Elsevier Ltd. All rights reserved.

Translation and cultural validation of clinical observational scales - the Fugl-Meyer assessment for post stroke sensorimotor function in Colombian Spanish.

Science.gov (United States)

Barbosa, Nubia E; Forero, Sandra M; Galeano, Claudia P; Hernández, Edgar D; Landinez, Nancy S; Sunnerhagen, Katharina S; Alt Murphy, Margit

2018-04-24

Fugl-Meyer Assessment (FMA) is the most widely used and recommended clinical scale for evaluation of sensorimotor impairment post stroke, but an official Spanish version is not available today. This study aimed to establish methodological structure for translation and cultural adaptation process and perform a transcultural validation of the upper and lower extremity FMA to Colombian Spanish. Procedures included forward and backward translation, step-wise reviewing by bilingual and professional experts to ensure conceptual and semantic equivalence. Validation included a pilot evaluation of item-level agreement on 10 individuals with stroke at the Central Military Hospital of Colombia. Comprehensive step-wise procedure for transcultural validation was established. Low agreement (less than 70%) was detected for items assessing arm movements within synergies and for coordination/speed subscale. All points of disagreement were systematically reviewed and agreed upon when drafting the final version of the Spanish FMA. Use of FMA will allow unified description of stroke severity and motor recovery in Spanish speaking countries. This will open up possibility to compare stroke and rehabilitation outcomes with other countries and regions world-wide. Comprehensive methodological procedures provided can facilitate introduction of well-established clinical scales in other languages. Implications for Rehabilitation The Fugl-Meyer Assessment (FMA) of upper and lower extremity is the most used and recommended clinical scale for evaluation of sensorimotor impairment after stroke. The Spanish version of FMA, validated in this study, is now first time available for use in research and clinical practice. Use of FMA will allow unified description of stroke severity and motor recovery in Spanish speaking countries, which in turn opens up possibility to compare stroke and rehabilitation outcomes with other countries and regions world-wide.

[Evaluation on efficacy of Jin's "Sanzhen" therapy combined with rehabilitation training for hemiplegia of stroke patients by Fugl-Meyer scale].

Science.gov (United States)

Han, De-Xiong; Zhuang, Li-Xing; Zhang, Ying

2011-06-01

To assess the therapeutic effect of Jin's "Sanzhen" therapy combined with rehabilitation training on limb-motor function of stroke patients by using Fugl-Meyer scale. A total of 254 hemiplegic stroke outpatients and inpatients from 7 hospitals were randomly divided into Jin's "Sanzhen" (JSZ) group (n = 83), rehabilitation group (n = 84) and combination group (n = 87). Acupuncture was applied to acupoints of Jin's "Sanzhen" including Quchi (LI 11), Waiguan (SJ 5) and Hegu (LI 4); Futu (ST 32). Zusanli (ST 36) and Sanyinjiao (SP 6); etc. The acupuncture needles were retained for 30 min after "Deqi". Rehabilitation training included passive joint movement, standing-sitting training, tapping-pressing stimulation, walking training, etc. The treatment was conducted once daily, 5 sessions a week and for 4 weeks. Fugl-Meyer scale composed of 100-point motor domain of the upper- and lower-extremity sections was used to assess the patients' motor function. On day 28 after the treatment, of the 83.84 and 87 hemiplegic stroke patients in the JSZ, rehabilitation and combination groups, 48 (57.8%), 31 (36.9%) and 50 (57.5%) experienced marked improvement in their clinical symptoms and signs, 26 (31.3%), 44 (52.4%) and 31(35.6%) had an improvement, and 9 (10.8%), 9 (10.7%) and 6 (6.9%) failed in the treatment, with the total effective rates being 89.2%, 89.3% and 93.1%, respectively. The neurological deficit score (NDS) of the combination group was significantly lower than that of the rehabilitation group (P rehabilitation groups (P rehabilitation groups in both NDS and FMAS (P > 0.05). Jin's "Sanzhen" therapy combined with rehabilitation training can significantly improve the limb motor function of hemiplegic stroke patients, and has a good synergistic effect.

Assessing theory of mind nonverbally in those with intellectual disability and ASD: the penny hiding game.

Science.gov (United States)

San José Cáceres, Antonia; Keren, Noa; Booth, Rhonda; Happé, Francesca

2014-10-01

Individuals with autism spectrum disorder (ASD) and low intellectual/language abilities are often omitted from experimental studies because of the challenges of testing these individuals. It is vital to develop appropriate and accessible tasks so that this significant part of the spectrum is not neglected. The theory of mind (ToM) has been extensively assessed in ASD, predominantly in relatively high-functioning individuals with reasonable language skills. This study aims to assess the ToM abilities of a sample of 132 participants with intellectual disability (ID) with and without ASD, matched in verbal mental age (VMA) and chronological age, using a naturalistic and nonverbal deception task: the Penny Hiding Game (PHG). The relationship between performance on the PHG and everyday adaptation was also studied. The PHG proved accessible to most participants, suggesting its suitability for use with individuals with low cognitive skills, attentional problems, and limited language. The ASD + ID group showed significantly more PHG errors, and fewer tricks, than the ID group. PHG performance correlated with Vineland adaptation scores for both groups. VMA was a major predictor of passing the task in both groups, and participants with ASD + ID required, on average, 2 years higher VMA than those with ID only, to achieve the same level of PHG success. VMA moderated the association between PHG performance and real-life social skills for the ASD + ID more than the ID group, suggesting that severely impaired individuals with ASD may rely on verbal ability to overcome their social difficulties, whereas individuals with ID alone may use more intuitive social understanding both in the PHG and everyday situations. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.

Evaluation of the heavy metals Cr, Mn, Fe, Cu, Zn and Pb in water penny wort (Hydrocotyle ranunculoides) from the upper course of the Lerma River, Mexico

International Nuclear Information System (INIS)

Zarazua, G.; Avila P, P.; Tejeda, S.; Valdivia B, M.; Macedo M, G.; Zepeda G, C.

2013-01-01

The Lerma river is one of the most polluted water bodies in Mexico, it presents low biodiversity and lets grow up aquatic plants resistant to the pollution. The aim of this work was to evaluate the concentration and bioaccumulation factors of Cr, Mn, Fe, Cu, Zn and Pb in aerial and submerged structures of water penny wort (Hydrocotyle ranunculoides) from the upper course of the Lerma river. Inductively coupled plasma-optical emission spectrometry was used to determine the concentration of heavy metals in water and H. ranunculoides. Results show that the bioaccumulation factors of Fe and Zn were higher than those of Cu, Mn, Cr and Pb; with the exception of Zn, bioaccumulation factors were higher in the submerged structures of the plant, which shows low mobility of analyzed metals. As a result of this study H. ranunculoides can be considered as good indicator of metal pollution in water bodies. (Author)

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.

Science.gov (United States)

Allen, R C; Russell, S R; Streb, L M; Alsheikheh, A; Stone, E M

2006-02-01

To determine the molecular pathology and clinical severity of two pedigrees with a history of early retinal detachment and peripheral retinal vascular abnormalities. Longitudinal cohort study. A longitudinal clinical study and DNA analysis was performed on 49 family members of two pedigrees. Nine individuals were found to be hemizygous for a mutation at codon 112 (Gly112Glu) of the Norrie disease protein (NDP) in one pedigree. Significant phenotypic heterogeneity was found. The proband presented with a unilateral subtotal retinal detachment at the age of 3 years, and subsequently developed a slowly progressive tractional retinal detachment involving the macula in the contralateral eye at the age of 4 years. One individual had only mild peripheral retinal pigmentary changes with normal vision at the age of 79 years. The remaining seven individuals had varying degrees of peripheral retinal vascular abnormalities and anterior segment findings. Seven affected members of a second pedigree affected by a previously reported mutation, Arg74Cys, also demonstrated wide ocular phenotypic variation. A novel mutation (Gly112Glu), which represents the most carboxy located, NDP mutation reported, results in significant phenotypic heterogeneity. These data support the contention that the spectrum of ocular disease severity associated with these NDP mutations is broad. Use of terms that characterize this entity by phenotypic appearance, such as familial exudative vitreoretinopathy, do not adequately communicate the potential spectrum of severity of this disorder to affected or carrier family members.

Meyer and schilz function to estimate common bean seed water content evaluated by radiofrequency Função de Meyer e Schilz para estimar o teor de água de sementes de feijão avaliado por radiofrequência

Directory of Open Access Journals (Sweden)

Pedro Amorim Berbert

2007-12-01

Full Text Available Derivation of density-independent dielectric functions for moisture determination in grains is important for the implementation of on-line sensors in automated driers. The object of this study was to investigate the Meyer and Schilz function [(epsilon'1/epsilon"] for indirect and non-destructive water content measurement of seeds of common bean by radiofrequency, where epsilon' and epsilon" are the relative permittivity and the dielectric loss factor, respectively. Samples consisted of common bean seeds variety Campeão-3 at moisture contents ranging from 11.5 to 20.6% w.b., and bulk densities from 756 to 854 kg m-3, performing dielectric measurements in a room at 20 ± 1ºC and 66 ± 2% relative humidity. The model could estimate common bean seed moisture content with a standard error of the estimate, and maximum error of 0.5 and 1.0 percentage point in moisture, w.b., respectively.A obtenção de funções dielétricas que sejam independentes da massa específica aparente para estimar o teor de água dos grãos é importante para o desenvolvimento de sensores para utilização em secadores automáticos. O objetivo do presente trabalho foi avaliar a adequabilidade da função de Meyer e Schilz, [(épsilon'1/épsilon"], para determinação indireta, não destrutiva e em linha do teor de água de sementes de feijão em radiofreqüências, em que épsilon' e épsilon" representam a permissividade elétrica relativa e o fator de perda dielétrica, respectivamente. Foram utilizadas amostras da variedade Campeão-3 com teor de água entre 11,5 e 20,6% b.u. e massa específica aparente no intervalo entre 756 e 854 kg m-3. Todas as medições das propriedades dielétricas foram feitas em ambiente a 20 ± 1ºC e umidade relativa de 66 ± 2%. O modelo permitiu estimar o teor de água das sementes de feijão com erro padrão da estimativa e erro máximo de 0,5 e 1,0 ponto percentual, respectivamente.

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.

Science.gov (United States)

Musada, Ganeswara Rao; Jalali, Subhadra; Hussain, Anjli; Chururu, Anupama Reddy; Gaddam, Pramod Reddy; Chakrabarti, Subhabrata; Kaur, Inderjeet

2016-01-01

Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR. The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron-exon boundaries, along with the 5' and 3' untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the observed variants was analyzed in conjunction with data available from other populations. Eight potentially pathogenic mutations (p.His4ArgfsX21, p.Asp23GlufsX9, p.Ile48ValfsX55, p.His50Asp, p.Ser57*, p.Gly113Asp, p.Arg121Gln, and p.Cys126Arg, including five novel ones), were observed in the coding region of the NDP gene in ten unrelated FEVR probands (9%). The novel changes were not observed in the control subjects and were unavailable in the dbSNP, ESP5400, NIEHS95, and ExAC databases. All probands with NDP mutations exhibited classical features of the disease as observed among patients with FEVR worldwide. This is perhaps the first study to demonstrate the involvement of NDP among patients with Indian FEVR that further expands its mutation spectrum. The data generated could have broad implications in genetic counseling, disease management, and early intervention for a better prognosis in FEVR.

Meyer-Overton reforged: The origins of alcohol and anesthetic potency in membranes as determined by a new NMR partitioning probe, benzyl alcohol

Energy Technology Data Exchange (ETDEWEB)

Janes, N.; Ma, L.; Hsu, J.W.; Rubin, E.; Taraschi, T.F. (Thomas Jefferson Univ., Philadelphia, PA (United States))

1992-01-01

The Meyer-Overton hypothesis--that anesthesia arises from the nonspecific action of solutes on membrane lipids--is reformulated using colligative thermodynamics. Configurational entropy, the randomness imparted by the solute through the partitioning process, is implicated as the energetic driving force that pertubs cooperative membrane equilibria. A proton NMR partitioning approach based on the anesthetic benzyl alcohol is developed to assess the reformulation. Ring resonances from the partitioned drug are shielded by 0.2 ppm and resolved from the free, aqueous drug. Free alcohol is quantitated in dilute lipid dispersions using an acetate internal standard. Cooperative equilibria in model dipalmitoyl lecithin membranes are examined with changes in temperature and alcohol concentration. The L[sub [beta][prime

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR

Science.gov (United States)

Musada, Ganeswara Rao; Jalali, Subhadra; Hussain, Anjli; Chururu, Anupama Reddy; Gaddam, Pramod Reddy; Chakrabarti, Subhabrata

2016-01-01

Purpose Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR. Methods The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron–exon boundaries, along with the 5′ and 3′ untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the observed variants was analyzed in conjunction with data available from other populations. Results Eight potentially pathogenic mutations (p.His4ArgfsX21, p.Asp23GlufsX9, p.Ile48ValfsX55, p.His50Asp, p.Ser57*, p.Gly113Asp, p.Arg121Gln, and p.Cys126Arg, including five novel ones), were observed in the coding region of the NDP gene in ten unrelated FEVR probands (9%). The novel changes were not observed in the control subjects and were unavailable in the dbSNP, ESP5400, NIEHS95, and ExAC databases. All probands with NDP mutations exhibited classical features of the disease as observed among patients with FEVR worldwide. Conclusions This is perhaps the first study to demonstrate the involvement of NDP among patients with Indian FEVR that further expands its mutation spectrum. The data generated could have broad implications in genetic counseling, disease management, and early intervention for a better prognosis in FEVR. PMID:27217716

Translocation of Endosulfan from Soil to Ginseng (Panax ginseng C. A. Meyer

Directory of Open Access Journals (Sweden)

Jiyoon Kim

2018-04-01

Full Text Available This study was conducted to examine the translocation of highly residual agrochemical in soil, the endosulfan (total, to ginseng (Panax ginseng C. A. Meyer. The soil with the level of the amount of 5.0 mg kg−1 of endosulfan (total was prepared in a Wagner pot into which the seedling of ginseng was transplanted and then the specimens of ginseng (root, leaf, and stem were collected quarterly and analyzed through GC-MS. The level of residual of endosulfan (total in the soil has decreased from 4.28 mg kg−1 (April 2013 to 1.94 mg kg−1 (December 2014 while the level in the specimens of leaf and stem of ginseng respectively sampled according to its growth phase in June and September from 2013 and 2014 showed an increase from 0.56 mg kg−1 (June 2013 to 2.46 mg kg−1 (September 2013 and decrease from 0.29 mg kg−1 (June 2014 to 0.18 mg kg−1 (September 2014. For the case of the root of ginseng, the level of the amount of 10.77 mg kg−1 of endosulfan (total was detected in June 2013 and then, the level has decreased to the level of 4.88 mg kg−1 in December 2014. The translocation of residual endosulfan (total in soil to ginseng with time was identified. The amount of residuals of α-endosulfan and β-endosulfan was also decreased with time however, the ratio of endosulfan-sulfate, the main metabolite, was gradually increasing. The retention of metabolite (endosulfan-sulfate in soil identified thereby thus suggests the potential of its translocation to plants in the case of the soils containing the residual of endosulfan (total.

Analytical and numerical analyses for a penny-shaped crack embedded in an infinite transversely isotropic multi-ferroic composite medium: semi-permeable electro-magnetic boundary condition

Science.gov (United States)

Zheng, R.-F.; Wu, T.-H.; Li, X.-Y.; Chen, W.-Q.

2018-06-01

The problem of a penny-shaped crack embedded in an infinite space of transversely isotropic multi-ferroic composite medium is investigated. The crack is assumed to be subjected to uniformly distributed mechanical, electric and magnetic loads applied symmetrically on the upper and lower crack surfaces. The semi-permeable (limited-permeable) electro-magnetic boundary condition is adopted. By virtue of the generalized method of potential theory and the general solutions, the boundary integro-differential equations governing the mode I crack problem, which are of nonlinear nature, are established and solved analytically. Exact and complete coupling magneto-electro-elastic field is obtained in terms of elementary functions. Important parameters in fracture mechanics on the crack plane, e.g., the generalized crack surface displacements, the distributions of generalized stresses at the crack tip, the generalized stress intensity factors and the energy release rate, are explicitly presented. To validate the present solutions, a numerical code by virtue of finite element method is established for 3D crack problems in the framework of magneto-electro-elasticity. To evaluate conveniently the effect of the medium inside the crack, several empirical formulae are developed, based on the numerical results.

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

Science.gov (United States)

Rodriguez-Revenga, L; Madrigal, I; Alkhalidi, L S; Armengol, L; González, E; Badenas, C; Estivill, X; Milà, M

2007-05-01

Norrie disease (ND) is an X-linked disorder, inherited as a recessive trait that, therefore, mostly affects males. The gene responsible for ND, called NDP, maps to the short arm of chromosome X (Xp11.4-p11.3). We report here an atypical case of ND, consisting of a patient harboring a large submicroscopic deletion affecting not only the NDP gene but also the MAOA, MAOB, and EFHC2 genes. Microarray comparative genomic hybridization (CGH) analysis showed that 11 consecutive bacterial artificial chromosome (BAC) clones, mapping around the NDP gene, were deleted. These clones span a region of about 1 Mb on Xp11.3. The deletion was ascertained by fluorescent in situ hybridization (FISH) analysis with different BAC clones located within the region. Clinical features of the proband include bilateral retinal detachment, microcephaly, severe psychomotor retardation without verbal language skills acquired, and epilepsy. The identification and molecular characterization of this case reinforces the idea of a new contiguous gene syndrome that would explain the complex phenotype shared by atypical ND patients.

Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.

Science.gov (United States)

Lenzner, Steffen; Prietz, Sandra; Feil, Silke; Nuber, Ulrike A; Ropers, H-Hilger; Berger, Wolfgang

2002-09-01

Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP). The gene product is a cystine-knot-containing extracellular signaling molecule of unknown function. In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level. Gene transcription in the eyes of 2-year-old Ndp knockout mice was compared with that in the eyes of age-matched wild-type control animals, by means of cDNA subtraction and microarrays. Clones (n = 3072) from the cDNA subtraction libraries were spotted onto glass slides and hybridized with fluorescently labeled RNA-derived targets. More than 230 differentially expressed clones were sequenced, and their expression patterns were verified by virtual Northern blot analysis. Numerous gene transcripts that are absent or downregulated in the eye of Ndp knockout mice are photoreceptor cell specific. In younger Ndp knockout mice (up to 1 year old), however, all these transcripts were found to be expressed at normal levels. The identification of numerous photoreceptor cell-specific transcripts with a reduced expression in 2-year-old, but not in young, Ndp knockout mice indicates that normal gene expression in these light-sensitive cells of mutant mice is established and maintained over a long period and that rods and cones are affected relatively late in the mouse model of ND. Obviously, the absence of the Ndp gene product is not compatible with long-term survival of photoreceptor cells in the mouse.

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

Science.gov (United States)

Pelcastre, Erika L; Villanueva-Mendoza, Cristina; Zenteno, Juan C

2010-05-01

To present the results of molecular analysis of the NDP gene in Mexican families with Norrie disease (ND) and X-linked familial exudative vitreoretinopathy (XL-FEVR). Two unrelated families with ND and two with XL-FEVR were studied. Clinical diagnosis was suspected on the basis of a complete ophthalmologic examination. Molecular methods included DNA isolation from peripheral blood leucocytes, polymerase chain reaction amplification and direct nucleotide sequencing analysis of the complete coding region and exon-intron junctions of NDP. Haplotype analysis using NDP-linked microsatellites markers was performed in both ND families. A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with ND. Haplotype analysis demonstrated that affected males in these two families shared the same ND-linked haplotype, suggesting a common origin for this novel mutation. The previously reported p.Arg121Trp and p.Arg121Gln Norrin mutations were identified in the two families with XL-FEVR. Our results expand the mutational spectrum in ND. This is the first report of ND resulting from mutation at arginine position 41 of Norrin. Interestingly, mutations at the same residue but resulting in a different missense change were previously described in subjects with XL-FEVR (p.Arg41Lys) or persistent fetal vasculature syndrome (p.Arg41Ser), indicating that the novel p.Arg41Thr change causes a more severe retinal phenotype. Preliminary data suggest a founder effect for the ND p.Arg41Thr mutation in these two Mexican families.

77 FR 57618 - Self-Regulatory Organizations; The NASDAQ Stock Market LLC; Notice of Filing and Immediate...

Science.gov (United States)

2012-09-18

... Proposed Rule Change Relating to the Customer Rebate To Add Liquidity and Non-Customer Fees for Removing Liquidity in Penny Pilot Options September 12, 2012. Pursuant to Section 19(b)(1) of the Securities Exchange... Add Liquidity and Non-Customer Fees for Removing Liquidity in Penny Pilot \\3\\ Options. \\3\\ The Penny...

Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages.

Science.gov (United States)

Haider, M Z; Devarajan, L V; Al-Essa, M; Srivastva, B S; Kumar, H; Azad, R; Rashwan, N

2001-04-01

Retinopathy of prematurity (ROP) is a retinal vascular disease that occurs in infants with short gestational age and low birth weight and may lead to retinal detachment and blindness. Missense mutations in the Norrie disease (ND) gene have been associated with the risk of progression to advanced stages in cases of ROP from the US and also in clinically similar ND and familial exudative vitreoretinopathy. We have screened two ND gene mutations, namely A105T and Val60Glu, by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific PCR methods, respectively, in 210 Kuwaiti premature newborns to replicate these findings in a different ethnic group. In the Kuwaiti premature newborn cohort, 115 of 210 babies had no eye problems and served as controls, while 95 were cases of ROP. In 71 of 95 ROP cases, the disease regressed spontaneously on or before stage 3, while in 24 of 95 ROP cases the disease progressed to advanced stages 4 and 5. In case of missense mutation (A105T), the AA genotype was detected in 96% of controls compared with 87% of ROP cases (NS); similarly no significant difference was found between spontaneously regressed ROP cases and those who progressed to advanced stages. For the Val60Glu mutation, no significant association was detected between the genotype and progression of ROP to advanced stages. Unlike data from the US, our findings from a Kuwaiti cohort of ROP cases and controls suggest a lack of association between the two ND gene mutations (A105T and Val60Glu) and ROP and the risk of progression of the disease to advanced stages.

Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.

Science.gov (United States)

Zaremba, J; Feil, S; Juszko, J; Myga, W; van Duijnhoven, G; Berger, W

1998-09-01

To describe the phenotypic variability in a Polish Norrie disease (ND) family associated with the missense mutation A63D. A patient with spared vision from a Polish ND family underwent detailed ophthalmological examinations including slit-lamp biomicroscopy, ultrasound (USG), angiography, Goldmann kinetic visual field, and electroretinography (ERG). Mutation screening was carried out using the single-strand conformation polymorphism (SSCP) technique and subsequent DNA sequencing of the coding part of the ND gene. A mutation was detected (exon 3, A63D) in a large Polish family with 12 affected males, all but one presenting with classical ND symptoms. In one male, partially preserved vision was observed up to 40 years of age (distance acuity of the right eye 1/50 and left eye 2/50). Slit-lamp examination revealed remnants of a persistent primary vitreous and hyaloid artery. Upon angiography, the retina was vascularized within the posterior pole but not in the periphery. The ERG revealed pathological changes characteristic for chorioretinal degenerations. Within one family, individuals with identical sequence alterations in the ND gene can show remarkable phenotypic variability of the ocular symptoms. These findings indicate the involvement of additional factors (epigenetic or genetic) in ocular pathogenesis of ND.

Dendrobium nobile Lindley and its bibenzyl component moscatilin are able to protect retinal cells from ischemia/hypoxia by dowregulating placental growth factor and upregulating Norrie disease protein.

Science.gov (United States)

Chao, Wen-Haur; Lai, Ming-Yi; Pan, Hwai-Tzong; Shiu, Huei-Wen; Chen, Mi-Mi; Chao, Hsiao-Ming

2018-06-22

Presumably, progression of developmental retinal vascular disorders is mainly driven by persistent ischemia/hypoxia. An investigation into vision-threatening retinal ischemia remains important. Our aim was to evaluate, in relation to retinal ischemia, protective effects and mechanisms of Dendrobium nobile Lindley (DNL) and its bibenzyl component moscatilin. The therapeutic mechanisms included evaluations of levels of placental growth factor (PLGF) and Norrie disease protein (NDP). An oxygen glucose deprivation (OGD) model involved cells cultured in DMEM containing 1% O 2 , 94% N 2 and 0 g/L glucose. High intraocular pressure (HIOP)-induced retinal ischemia was created by increasing IOP to 120 mmHg for 60 min in Wistar rats. The methods included electroretinogram (ERG), histopathology, MTT assay and biochemistry. When compared with cells cultured in DMEM containing DMSO (DMSO+DMEM), cells subjected to OGD and pre-administrated with DMSO (DMSO+OGD) showed a significant reduction in the cell viability and NDP expression. Moreover, cells that received OGD and 1 h pre-administration of 0.1 μM moscatilin (Pre-OGD Mos 0.1 μM) showed a significant counteraction of the OGD-induced decreased cell viability. Furthermore, compared with the DMSO+OGD group (44.54 ± 3.15%), there was significant elevated NDP levels in the Pre-OGD Mos 0.1 μM group (108.38 ± 29.33%). Additionally, there were significant ischemic alterations, namely reduced ERG b-wave, less numerous retinal ganglion cells, decreased inner retinal thickness, and reduced/enhanced amacrine's ChAT/Müller's GFAP or vimentin immunolabelings. Moreover, there were significantly increased protein levels of HIF-1α, VEGF, PKM2, RBP2 and, particularly, PLGF (pg/ml; Sham vs. Vehicle: 15.11 ± 1.58 vs. 39.53 ± 5.25). These ischemic effects were significantly altered when 1.0 g/Kg/day DNL (DNL1.0 + I/R or I/R+ DNL1.0) was applied before and/or after ischemia, but not vehicle (Vehicle+I/R). Of

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.

Science.gov (United States)

Lin, Phoebe; Shankar, Suma P; Duncan, Jacque; Slavotinek, Anne; Stone, Edwin M; Rutar, Tina

2010-02-01

Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother. Copyright (c) 2010 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

Preference of a polyphagous mirid bug, Apolygus lucorum (Meyer-Dür for flowering host plants.

Directory of Open Access Journals (Sweden)

Hongsheng Pan

Full Text Available Apolygus lucorum (Meyer-Dür (Hemiptera: Miridae is one of the most important herbivores in a broad range of cultivated plants, including cotton, cereals, vegetables, and fruit crops in China. In this manuscript, we report on a 6-year long study in which (adult A. lucorum abundance was recorded on 174 plant species from 39 families from early July to mid-September. Through the study period per year, the proportion of flowering plants exploited by adult A. lucorum was significantly greater than that of non-flowering plants. For a given plant species, A. lucorum adults reached peak abundance at the flowering stage, when the plant had the greatest attraction to the adults. More specifically, mean adult abundance on 26 species of major host plants and their relative standard attraction were 10.3-28.9 times and 9.3-19.5 times higher at flowering stage than during non-flowering periods, respectively. Among all the tested species, A. lucorum adults switched food plants according to the succession of flowering plant species. In early July, A. lucorum adults preferred some plant species in bloom, such as Vigna radiata, Gossypium hirsutum, Helianthus annuus and Chrysanthemum coronarium; since late July, adults dispersed into other flowering hosts (e.g. Ricinus communis, Impatiens balsamina, Humulus scandens, Ocimum basilicum, Agastache rugosus and Coriandrum sativum; in early September, they largely migrated to flowering Artemisia spp. (e.g. A. argyi, A. lavandulaefolia, A. annua and A. scoparia. Our findings underscore the important role of flowering plays in the population dynamics and inter-plant migration of this mirid bug. Also, our work helps understand evolutionary aspects of host plant use in polyphagous insects such as A. lucorum, and provides baseline information for the development of sustainable management strategies of this key agricultural pest.

Translation, adaptation and inter-rater reliability of the administration manual for the Fugl-Meyer assessment.

Science.gov (United States)

Michaelsen, Stella M; Rocha, André S; Knabben, Rodrigo J; Rodrigues, Luciano P; Fernandes, Claudia G C

2011-01-01

Recently, the reliability of the Brazilian version of the Fugl-Meyer Assessment (FMA) was assessed through the scoring given according to observations made by a single evaluator who applied the test. When different raters apply the scale, the reliability may depend on the interpretation given to the assessment sheet. In such cases, a clear administration manual is essential for ensuring homogeneity of application. To translate and adapt the French Canadian version of the FMA administration manual into Brazilian Portuguese and to evaluate the inter-rater reliability when different evaluators apply the FMA on the basis of the information contained in the manual. Eighteen adults (59±10 years) with chronic hemiparesis (38±35 months after a stroke) took part in this study. Eight patients participated in the first part of the study and 10 in the second part. Based on analyzing the results from part 1, an adapted version was developed, in which information and photos were added to illustrate the positions of the patient and evaluator. The inter-rater reliability was assessed using the intraclass correlation coefficient (ICC). The reliability of the FMA based on the adapted version of the manual was excellent for the total motor scores for the upper limbs (ICC=0.98) and lower limbs (ICC=0.90), as well as for movement sense (ICC=0.98) and upper and lower-limb passive range of motion (ICC=0.84 and 0.90, respectively). The reliability was moderate for tactile sensitivity (0.75). The joint pain assessment presented low reliability. The results showed that, except for pain assessment, application of the FMA based on the adapted version of the application manual for Brazilian Portuguese presented adequate inter-rater reliability.

Introduction

DEFF Research Database (Denmark)

Schubart, Rikke

2017-01-01

This special issue of the journal Refractory explores identity in the Penny Dreadful.The introduction introduces the show, themes and the six articles. In Season Two of television horror-drama, Penny Dreadful (Showtime/Sky, 2014-16), Ethan Chandler (Josh Hartnett), American sharpshooter and werew......This special issue of the journal Refractory explores identity in the Penny Dreadful.The introduction introduces the show, themes and the six articles. In Season Two of television horror-drama, Penny Dreadful (Showtime/Sky, 2014-16), Ethan Chandler (Josh Hartnett), American sharpshooter...... and werewolf, asks Vanessa Ives (Eva Green), a British heiress with supernatural powers and a troubled past, what happens when the monsters inside of them are released? She says: “We’re most who we are. Unrestrained. Ourselves.” Summing up a central concern of the series, she confirms the view of its creator...

Disease: H00589 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00589 Familial exudative vitreoretinopathy (FEVR), including: Exudative vitreoretinopathy... 1 (EVR1); Exudative vitreoretinopathy2, X-linked ... (EVR2); Exudative vitreoretinopathy 4 (EVR4); Exudative vitreoretinopathy... 5 (EVR5); Norrie disease (ND) Familial exudative vitreoretinopathy (FEVR) and Norri...RP5 [HSA:4041] [KO:K03068] (EVR5) TSPAN12 [HSA:23554] [KO:K17355] ... Exudative vitreoretinopathy 3 (EVR3) ...ion spectrum in familial exudative vitreoretinopathy and Norrie disease with iden

Insecticide susceptibility of the green plant bug, Apolygus lucorum Meyer-Dür (Homoptera: Miridae and two predatory arthropods

Directory of Open Access Journals (Sweden)

Zhang Zhengqun

2015-12-01

Full Text Available The green plant bug (Apolygus lucorum Meyer-Dür is a key pest of Bt cotton in China. Along with biological control, chemical control is one of the most important strategies in A. lucorum Integrated Pest Management (IPM. The goal of this study was to evaluate the toxicity of eight conventional insecticides to A. lucorum and to assess the susceptibility of two generalist predators Chrysopa sinica (Jieder and Propylaea japonica (Thunbery to insecticides that are commonly used in A. lucorum management. Via glass-vial and leaf-dip bioassay, toxicity tests with selected insecticides at two different life-stages of A. lucorum indicated significant differences between the LD50 or LC50 values for these compounds within different insecticidal classes. Phenylpyrazole fipronil had the highest toxicity to 4th-instar nymphs and adults of A. lucorum, whereas neonicotinoid imidacloprid had the lowest toxicity among the insecticides. Females were more tolerant to insecticides than were males, as shown by the higher LD50 values for females. Furthermore, laboratory tests showed that endosulfan had the highest selectivity to C. sinica and P. japonica: the selective toxicity ratios (STRs were superior to other tested insecticides, particularly imidacloprid, and were 5.396 and 4.749-fold higher than baseline STRs, respectively. From this study, we conclude that fipronil can potentially be used to efficiently control A. lucorum. An alternative control agent worth consideration is endosulfan, owing to its relative safety to non-targeted natural enemies.

NATO’s Future Role in the Arctic

Science.gov (United States)

2016-05-01

www.arctic-council.org/index.php/en/about-us 4 Kuross, “An Ambiguous Role: NATO in the Arctic.” 5 Derek Reveron & Kathleen Mahoney- Norris , Human...The RAND Corporation, April 1989, http://www.rand.org/pubs/papers/P7558.html, 12-3. 22 Reveron & Mahoney- Norris , Human Security in a Borderless...trying-to-start-a- war-in-the-arctic-its-just-keeping-out-the-riffraff Reveron, Derek & Mahoney- Norris , Kathleen. Human Security in a Borderless

77 FR 35089 - Self-Regulatory Organizations; NYSE Arca, Inc.; Notice of Filing and Immediate Effectiveness of...

Science.gov (United States)

2012-06-12

... credits for electronic executions of posted Customer liquidity in Penny Pilot issues and to amend the fees... in Penny Pilot issues: Tier Qualification basis (average electronic executions per day) ** Credit... SECURITIES AND EXCHANGE COMMISSION [Release No. 34-67143; File No. SR-NYSEArca-2012-52] Self...

Tradução, adaptação e confiabilidade interexaminadores do manual de administração da escala de Fugl-Meyer Translation, adaptation and inter-rater reliability of the administration manual for the Fugl-Meyer assessment

Directory of Open Access Journals (Sweden)

Stella M Michaelsen

2011-02-01

Full Text Available CONTEXTUALIZAÇÃO: Recentemente a confiabilidade da versão brasileira da Escala de Fugl-Meyer (EFM foi avaliada pela pontuação dada pela observação de um único examinador que aplicou a escala. Quando diferentes examinadores aplicam a escala, a confiabilidade pode depender da interpretação dada à ficha de avaliação. Nesse caso, um manual de administração claro é fundamental para garantir homogeneidade na aplicação. OBJETIVOS: Traduzir e adaptar para o português-Brasil a versão do Manual de Administração em francês-canadense da EFM e avaliar a confiabilidade interexaminadores quando diferentes examinadores aplicam a EFM com base nas informações contidas no manual. MÉTODOS: Participaram do estudo 18 adultos (59±10 anos com hemiparesia crônica (38±35 meses pós-Acidente Vascular Encefálico. Oito sujeitos participaram da primeira parte do estudo e dez, da segunda parte. Baseada na análise dos resultados da parte 1, desenvolveu-se uma versão adaptada à qual foram adicionadas informações e fotos para ilustrar a posição do paciente e do examinador. A confiabilidade interexaminadores foi avaliada com o Coeficiente de Correlação Intraclasse (CCI. RESULTADOS: A confiabilidade da EFM baseada na versão adaptada do manual foi excelente para o escore motor total do membro superior (MS, CCI=0,98 e membro inferior (MI, CCI=0,90, sentido de movimento (CCI=0,98, amplitude de movimento (ADM passiva do MS (CCI=0,84 e do MI (CCI=0,90 e moderada para a sensibilidade tátil (0,75. A avaliação da dor articular apresentou baixa confiabilidade. CONCLUSÃO: Os resultados mostram que, com exceção da avaliação da dor, a aplicação da EFM com base na versão adaptada do manual de aplicação em português-Brasil apresenta adequada confiabilidade interexaminadores.BACKGROUND: Recently, the reliability of the Brazilian version of the Fugl-Meyer Assessment (FMA was assessed through the scoring given according to observations made by

Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.

Science.gov (United States)

Hutcheson, Kelly A; Paluru, Prasuna C; Bernstein, Steven L; Koh, Jamie; Rappaport, Eric F; Leach, Richard A; Young, Terri L

2005-07-14

Retinopathy of prematurity (ROP) is a leading cause of visual loss in the pediatric population. Mutations in the Norrie disease gene (NDP) are associated with heritable retinal vascular disorders, and have been found in a small subset of patients with severe retinopathy of prematurity. Varying rates of progression to threshold disease in different races may have a genetic basis, as recent studies suggest that the incidence of NDP mutations may vary in different groups. African Americans, for example, are less likely to develop severe degrees of ROP. We screened a large cohort of ethnically diverse patients for mutations in the entire NDP. A total of 143 subjects of different ethnic backgrounds were enrolled in the study. Fifty-four patients had severe ROP (Stage 3 or worse). Of these, 38 were threshold in at least one eye (with a mean gestational age of 26.1 weeks and mean birth weight of 788.4 g). There were 36 patients with mild or no ROP, 31 parents with no history of retinal disease or prematurity, and 22 wild type (normal) controls. There were 70 African American subjects, 55 Caucasians, and 18 of other races. Severe ROP was noted in 29 African American subjects, 17 Caucasians, and 8 of other races. Seven polymerase chain reaction primer pairs spanning the NDP were optimized for denaturing high performance liquid chromatography and direct sequencing. Three primer pairs covered the coding region, and the remaining four spanned the 3' and 5' untranslated regions (UTR). Six of 54 (11%) infants with severe ROP had polymorphisms in the NDP. Five of the infants were African American, and one was Caucasian. Two parents were heterozygous for the same polymorphism as their child. One parent-child pair had a single base pair (bp) insertion in the 3' UTR region. Another parent-child pair had two mutations: a 14 bp deletion in the 5' UTR region of exon 1 and a single nucleotide polymorphism in the 5' UTR region of exon 2. No coding region sequence changes were found. No

IMORO, ZA; COBBINA, JS DOI

African Journals Online (AJOL)

ADOWIE PERE

2018-03-21

Mar 21, 2018 ... Synthesis of Insecticides from Selected Plant Materials ... Penny royal ('D') and Garlic extract + Orange oil + Penny royal ('E'). Mosquitoes (Culex spp. ... in compounds and about 1% at undisclosed locations ... Protection Agency before they are marketed ... oils were stored in sterilized, inert plastic bottles.

Unedited Version

Indian Academy of Sciences (India)

5

Patient with Familial Norrie Disease: Bilateral Blindness and Leucocoria ..... Lin RC, Shih JC (2013) Monoamine oxidase A and A/B knockout mice display autistic-like ... spectrum in familial exudative vitreoretinopathy and Norrie disease with ...

The Pasta Paradigm.

Science.gov (United States)

Sconyers, Jim

1997-01-01

Describes an activity that focuses on the question: How hard is it to break spaghetti noodles? Students design their own experiment that involves hanging a cup of pennies from a piece of spaghetti by a paper clip and investigate how many pennies the noodle can support without breaking. (DDR)

78 FR 7828 - Self-Regulatory Organizations; NYSE Arca, Inc.; Notice of Filing and Immediate Effectiveness of...

Science.gov (United States)

2013-02-04

... credits for electronic executions in Penny Pilot issues. See Securities Exchange Act Release No. 68405... Posting Credits January 29, 2013. Pursuant to Section 19(b)(1) \\1\\ of the Securities Exchange Act of 1934... qualification thresholds for tiered Customer \\4\\ posting credits for electronic executions in Penny Pilot issues...

Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype.

Science.gov (United States)

Suárez-Merino, B; Bye, J; McDowall, J; Ross, M; Craig, I W

2001-06-01

Mutations at the Norrie disease gene locus, NDP, manifest in a broad range of defects. These range from a relatively mild, late-onset, exudative vitreoretinopathy to congenital blindness and sensorineural deafness combined, in some cases, with mental retardation. In addition, extensive deletions involving the NDP locus, located at Xp11.3, the adjacent monoamine oxidadase genes MAOA and MAOB, and additional material, result in a more severe pattern of symptoms. The phenotypes include all or some of the following; mental retardation, involuntary movements, hypertensive crises and hypogonadism. We extended an existing YAC contig to embrace the boundaries of three of the largest deletions and converted this into four PAC contigs. Computer analysis and experimental data have resulted in the identification of several putative loci, including a phosphatase inhibitor 2-like gene (dJ154.1) and a 250-bp sequence which resembles a homeobox domain (dA113.3), 1.2 Mb and 400 kb respectively from the MAO/NDP cluster. The pattern of expression of dJ154.1 suggests that it may represent an important factor contributing to the complex phenotypes of these deletion patients. Hum Mutat 17:523, 2001. Copyright 2001 Wiley-Liss, Inc.

Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.

Science.gov (United States)

Hiraoka, M; Berinstein, D M; Trese, M T; Shastry, B S

2001-01-01

Retinopathy of prematurity (ROP) is a leading cause of blindness in premature children. It is a multifactorial disorder which causes fibrovascular tissue changes that affect the retina in low birth-weight and short gestational age infants. To determine the prevalence of Norrie disease (ND) gene mutations, clinical examination and molecular genetic analyses were performed in 100 pre-term babies of different ethnic backgrounds who developed advanced ROP. The leukocyte DNA was extracted, amplified by the polymerase chain reaction (PCR), and analyzed by single-strand conformation polymorphism (SSCP), G/T and C/A scanning, and by DNA sequencing. All three exons, including splice sites and the 3'-untranslated region, were screened. Of the 100 patients analyzed, 2 patients with advanced ROP showed a mobility shift in the DNA. In 1 patient, this mobility shift was caused by the insertion of an additional 12-bp CT repeat in exon 1, and in the second patient, there was a 14-bp deletion in the same exon of the ND gene, as evidenced by direct sequencing of the amplified products. Similar analyses of exons 2 and 3 and the 3'-untranslated region failed to detect additional mutations in the gene. None of the 130 normal, unrelated controls revealed similar changes. Taking into account the above results, as well as those of other studies, it appears that the ND gene mutations can account for 3% of cases of advanced ROP. Although the ND gene is not frequently involved in advanced ROP, the present large-scale study further supports the hypothesis that genetic influences may play an important role in the development of severe ROP in some premature infants.

Eberhard Widmann (Stefan Meyer Institute, Vienna) and Silke Federmann (Ph.D. Student from Vienna in the CERN-Austrian Ph.D. program) together with a microwave cavity developed by Silke at CERN. The cavity will be used for the first time to look for spin-flip transitions of antihydrogen atoms later this year.

CERN Multimedia

Maximilien Brice

2011-01-01

Eberhard Widmann (Stefan Meyer Institute, Vienna) and Silke Federmann (Ph.D. Student from Vienna in the CERN-Austrian Ph.D. program) together with a microwave cavity developed by Silke at CERN. The cavity will be used for the first time to look for spin-flip transitions of antihydrogen atoms later this year.

Deon Meyer

African Journals Online (AJOL)

Owner

of ten minste gekontekstualiseer, word. By die gastehuis, La Petite Margaux, is daar drie lyke met drie perfekte kopskote. Twee van die oorledenes is militêre tipes, oud-SAPD- lyfwagte wat as persoonlike sekuriteitswagte vir Jeanette Louw, besturende direkteur van. Body Armour (soos in Onsigbaar en 7 dae), ge- werk het.

75 FR 20413 - Self-Regulatory Organizations; NYSE Arca, Inc.; Notice of Filing and Immediate Effectiveness of a...

Science.gov (United States)

2010-04-19

... volume levels in non-Premium Tier Penny Pilot issues. This new tiered pricing structure will replace the.... The Exchange also proposes to introduce a Premium Tier for electronic transactions in certain Penny..., UNG, FAZ, DIA, GDX, and USO will qualify for the Premium Tier, and will receive an additional $.05 per...

77 FR 68862 - Self-Regulatory Organizations; BATS Exchange, Inc.; Notice of Filing and Immediate Effectiveness...

Science.gov (United States)

2012-11-16

..., the term ``Specified Symbols'' refers to FB, GOOG, and GRPN. Based on recent changes to NOM pricing... pennies. Under this pricing structure, the minimum penny tick increment equates to a $1.00 economic value... Exchange believes that this pricing model, based on approximate Routing Costs is a reasonable, fair and...

Upper Extremity Functional Evaluation by Fugl-Meyer Assessment Scoring Using Depth-Sensing Camera in Hemiplegic Stroke Patients.

Directory of Open Access Journals (Sweden)

Won-Seok Kim

Full Text Available Virtual home-based rehabilitation is an emerging area in stroke rehabilitation. Functional assessment tools are essential to monitor recovery and provide current function-based rehabilitation. We developed the Fugl-Meyer Assessment (FMA tool using Kinect (Microsoft, USA and validated it for hemiplegic stroke patients. Forty-one patients with hemiplegic stroke were enrolled. Thirteen of 33 items were selected for upper extremity motor FMA. One occupational therapist assessed the motor FMA while recording upper extremity motion with Kinect. FMA score was calculated using principal component analysis and artificial neural network learning from the saved motion data. The degree of jerky motion was also transformed to jerky scores. Prediction accuracy for each of the 13 items and correlations between real FMA scores and scores using Kinect were analyzed. Prediction accuracies ranged from 65% to 87% in each item and exceeded 70% for 9 items. Correlations were high for the summed score for the 13 items between real FMA scores and scores obtained using Kinect (Pearson's correlation coefficient = 0.873, P<0.0001 and those between total upper extremity scores (66 in full score and scores using Kinect (26 in full score (Pearson's correlation coefficient = 0.799, P<0.0001. Log transformed jerky scores were significantly higher in the hemiplegic side (1.81 ± 0.76 compared to non-hemiplegic side (1.21 ± 0.43 and showed significant negative correlations with Brunnstrom stage (3 to 6; Spearman correlation coefficient = -0.387, P = 0.046. FMA using Kinect is a valid way to assess upper extremity function and can provide additional results for movement quality in stroke patients. This may be useful in the setting of unsupervised home-based rehabilitation.

76 FR 57776 - Self-Regulatory Organizations; The NASDAQ Stock Market LLC; Notice of Filing and Immediate...

Science.gov (United States)

2011-09-16

... Substance of the Proposed Rule Change NASDAQ proposes to modify pricing for NASDAQ members using the NASDAQ... is proposing to modify pricing for the Customer Rebate to Add Liquidity in Penny Options by adding an... to modify the Customer Rebates to Add Liquidity in Penny Pilot by adding a monthly volume target for...

78 FR 21993 - Self-Regulatory Organizations; BOX Options Exchange LLC; Notice of Filing and Immediate...

Science.gov (United States)

2013-04-12

... greater than $0.01 (i.e., all non-Penny Pilot Classes, and Penny Pilot Classes where the trade price is... intense competition on price (and other dimensions of competition) to attract order flow from order flow... II (Liquidity Fees and Credits) that when a non-immediately marketable order executes against a PIP...

78 FR 73907 - Self-Regulatory Organizations; NASDAQ OMX PHLX LLC; Notice of Filing and Immediate Effectiveness...

Science.gov (United States)

2013-12-09

... electronically-delivered Customer Simple Orders in Penny Pilot Options and Customer Simple Orders in Non-Penny... environment on the Exchange by these market participants. The Exchange is continuing to offer the Tier 2... Room, 100 F Street NE., Washington, DC 20549, on official business days between the hours of 10:00 a.m...

Journal of Biosciences | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Biosciences. Will D Penny. Articles written in Journal of Biosciences. Volume 32 Issue 1 January 2007 pp 129-144 Articles. Dynamic causal models of neural system dynamics: current state and future extensions · Klaas E Stephan Lee M Harrison Stefan J Kiebel Olivier David Will D Penny Karl J ...

Induction of micronuclei in human and mouse lymphocytes irradiated with gamma radiation and effect of panax ginseng C. A. Meyer

Energy Technology Data Exchange (ETDEWEB)

Kim, Sung Ho; Oh, Heon; Lee, Song Eun [Chonnam National Univ., Kwangju (Korea, Republic of); Lee, Yun Sil; Kim, Tae Hwan [Korea Cancer Center Hospital, Seoul (Korea, Republic of); Jeong, Kyu Sik [Korea Research Institute of Bioscience and Biotechnology, Taejon (Korea, Republic of); Ryu, Si Yun [Chungnam National Univ., Taejon (Korea, Republic of)

1997-09-01

The frequencies of {gamma}-ray-induced micronuclei (MN) in Cytokinesis-Blocked (CB) lymphocytes at several doses were measured in three donors of human and C57BL/6 mice. Measurements performed after irradiation showed a dose-related increases in MN frequency in each of the donors studied. The relative sensitivity of mouse in Spleen Lymphocytes (SLs) compared with human Peripheral Blood Lymphocytes (PBLs) was estimated by best fitting linear-quadratic model based on the radiation-induced MN data over the range from 0 cGy to 400 cGy. In the case of MN frequency with 0.2 per CB cell, the relative sensitivity of mouse SLs was 1.67. Compared with the radiation-induced MN formation in the PBLs of human, the SLs of mouse were more radiosensitive. Using this MN assay with human PBLs and mouse SLs, studies were performed to determine whether the water fraction of ginseng (Panax ginseng C.A.Meyer)against radiation-induced MN in human PBLs after in vitro irradiation (3Gy) and in SLs of C57BL/6 mice after in vivo irradiation (3Gy). The frequency of MN in human PBLs was reduced by water fraction of ginseng (0.5mg/ml of medium) both pre-and post treatment (p<0.01) in vitro. In addition, the frequency of MN in mouse SLs was also reduced by pretreatment of ginseng (2mg/ml of drinking water for 7 days) in vivo.

A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.

Science.gov (United States)

Haider, M Z; Devarajan, L V; Al-Essa, M; Kumar, H

2002-01-01

Retinopathy of prematurity (ROP) is a retinal vascular disease which occurs in infants with a short gestational age and low birth weight and may lead to retinal detachment and blindness. In some premature infants, ROP progresses to advanced stages despite rigorous intervention, but in the majority, it spontaneously regresses before the threshold stage. Genetic factors, e.g. mutations in the Norrie disease (ND) gene, have been implicated in determining the progression of ROP to advanced stages. We have identified a novel C597A polymorphism of the ND gene; we screened this and another mutation in the ND gene, C110G, in 210 premature Kuwaiti infants using PCR-RFLP, DNA sequence analysis and DNA enzyme immunoassay hybridization to investigate their association with advanced-stage ROP. In this cohort of premature Kuwaiti newborns, 115 of 210 babies had no eye problems and served as controls, while 95 were found to have ROP. In 71 of the 95 ROP cases, the disease spontaneously regressed at or before stage 3, while in 24 of 95 ROP cases, the disease progressed to advanced stages 4 or 5. The incidence of the AA genotype of the C597A polymorphism was considerably higher in advanced-stage ROP cases (83.3%) compared to spontaneously regressing ROP cases (0%) and the normal controls (10.4%) (p < 0.0001). For the other genotypes, no significant difference was detected between the controls and ROP cases. In the case of the C110G mutation in the ND gene, no significant differences were detected between the controls and ROP cases, and the majority of subjects had a CC genotype in all three groups. Copyright 2002 National Science Council, ROC and S. Karger AG, Basel

In Search of Activist Pedagogies in SMTE

Science.gov (United States)

Alsop, Steve; Bencze, Larry

2012-01-01

David Burns and Stephen Norris's (2012) article entitled "Activist Environmental Education and Moral Philosophy" offers a thought-provoking response to the CJSMTE special edition. The authors would like to thank these authors for their supportive and philosophically adroit arguments. Burns and Norris provide an opportunity to continue…

New Ag(I)-iminophosphorane coordination polymers as efficient catalysts precursors for the MW-assisted Meyer-Schuster rearrangement of propargylic alcohols in water.

Science.gov (United States)

García-Álvarez, Joaquín; Díez, Josefina; Vidal, Cristian; Vicent, Cristian

2013-06-03

Treatment of the N-thiophosphorylated iminophosphorane ligands (PTA)═NP(═S)(OR)2 [PTA = 1,3,5-triaza-7-phosphaadamantane, 3a and 3b] and (DAPTA)═NP(═S)(OR)2 [DAPTA = 3,7-diacetyl-1,3,7-triaza-5-bicyclo[3.3.1]nonane, 4a and 4b] with an equimolecular amount of AgSbF6 leads to high-yield formation of the new one-dimensional coordination polymers [Ag{μ(2)-N,S-(PTA)═NP(═S)(OR)2}]x[SbF6]x (5a and 5b) and [Ag{μ(2)-O,S-(DAPTA)═NP(═S)(OR)2}]x[SbF6]x (6a and 6b), respectively. These new (iminophosphorane)silver(I) coordination polymers are efficient catalyst precursors for the Meyer-Schuster isomerization of both terminal and internal alkynols. Reactions proceeded in water, under aerobic conditions and using microwave irradiation as heating source, to afford the corresponding α,β-unsaturated carbonyl compounds in excellent yields, without the addition of any cocatalyst. Remarkably, it should be noted that this catalytic system can be recycled up to 10 consecutive runs (1st cycle 45 min, 99%; 10th cycle 6 h, 97%). ESI-MS analysis of 5a in water has been carried out providing valuable insight into the monomeric active species responsible for catalytic activity in water.

Norrie-Syndrom

OpenAIRE

Flügel, T; Pflug, C; Niessen, A

2016-01-01

Hintergrund: Vorgestellt wurde in unserer Klinik ein 17-jähriger Junge mit angeborener Blindheit. Er leidet zusätzlich seit dem 14. Lebensjahr unter einer schubweise progredienten Schwerhörigkeit. Aktuell zeigte sich eine mittelgradige Schwerhörigkeit beidseits. Eine humangenetische Abklärung der Augenveränderungen hatte in der frühen Kindheit keine Auffälligkeiten ergeben. Die Familienanamnese ist bezogen auf Hörstörungen oder Blindheit leer. Wegen der neu aufgetretenen progredienten Schwer...

Norries disease

Directory of Open Access Journals (Sweden)

Saini J

1992-01-01

Full Text Available A 2-month-old male infant was found to have Norrie′s disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie′s disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.

Evolution, functional differentiation, and co-expression of the RLK gene family revealed in Jilin ginseng, Panax ginseng C.A. Meyer.

Science.gov (United States)

Lin, Yanping; Wang, Kangyu; Li, Xiangyu; Sun, Chunyu; Yin, Rui; Wang, Yanfang; Wang, Yi; Zhang, Meiping

2018-02-21

Most genes in a genome exist in the form of a gene family; therefore, it is necessary to have knowledge of how a gene family functions to comprehensively understand organismal biology. The receptor-like kinase (RLK)-encoding gene family is one of the most important gene families in plants. It plays important roles in biotic and abiotic stress tolerances, and growth and development. However, little is known about the functional differentiation and relationships among the gene members within a gene family in plants. This study has isolated 563 RLK genes (designated as PgRLK genes) expressed in Jilin ginseng (Panax ginseng C.A. Meyer), investigated their evolution, and deciphered their functional diversification and relationships. The PgRLK gene family is highly diverged and formed into eight types. The LRR type is the earliest and most prevalent, while only the Lec type originated after P. ginseng evolved. Furthermore, although the members of the PgRLK gene family all encode receptor-like protein kinases and share conservative domains, they are functionally very diverse, participating in numerous biological processes. The expressions of different members of the PgRLK gene family are extremely variable within a tissue, at a developmental stage and in the same cultivar, but most of the genes tend to express correlatively, forming a co-expression network. These results not only provide a deeper and comprehensive understanding of the evolution, functional differentiation and correlation of a gene family in plants, but also an RLK genic resource useful for enhanced ginseng genetic improvement.

On Consumerism, Collective Action, and Whether Art Teaches Anything

Science.gov (United States)

Ruitenberg, Claudia W.

2014-01-01

In this review essay, Claudia Ruitenberg discusses Trevor Norris's "Consuming Schools," René Arcilla's "Mediumism," and Martha Nussbaum's "Not for Profit." While the primary focus of each book is different--with Norris concentrating on the pressures of consumerism and commercialism on K-12 schooling,…

«You’re obliged to have recourse to bodies»

Directory of Open Access Journals (Sweden)

Beller, Anne-Marie

2015-12-01

Full Text Available The sensation novel was frequently criticised for its corporeality and vulgar depictions of physical violence. M. E. Braddon was identified as a prime offender in this respect, yet Braddon’s anonymous writing for the penny fiction market displays considerably more explicit emphasis on corporeality than any of her relatively restrained three-volume novels. In contrast to her middle-class novels, where, as her character Sigismund Smith advises, the emphasis should all be on «one body», Braddon’s penny bloods proliferate bodies, in the dual sense of corpses (referred to by Smith in my title and also through extensive casts of characters and multiple plot-lines. An analysis of the revisions Braddon made to her penny serial The Outcasts before its publication in 3 volumes as Henry Dunbar elucidates mid-Victorian perceptions of the «vulgarization» of taste and the «classed» nature of genres. Bourdieu’s theory of «impure taste» is employed to assess the ways in which Braddon’s treatment of «bodies» engages questions of literary taste and negotiates the different generic conventions operating between the penny serial and the 3-volume novel. 

Psychometrics of the wrist stability and hand mobility subscales of the Fugl-Meyer assessment in moderately impaired stroke.

Science.gov (United States)

Page, Stephen J; Hade, Erinn; Persch, Andrew

2015-01-01

There remains a need for a quickly administered, stroke-specific, bedside measure of active wrist and finger movement for the expanding stroke population. The wrist stability and hand mobility scales of the upper extremity Fugl-Meyer Assessment (w/h UE FM) constitute a valid, reliable measure of paretic UE impairment in patients with active wrist and finger movement. The aim of this study was to determine performance on the w/h UE FM in a stable cohort of survivors of stroke with only palpable movement in their paretic wrist flexors. A single-center cohort study was conducted. Thirty-two individuals exhibiting stable, moderate upper extremity hemiparesis (15 male, 17 female; mean age=56.6 years, SD=10.1; mean time since stroke=4.6 years, SD=5.8) participated in the study, which was conducted at an outpatient rehabilitation clinic in the midwestern United States. The w/h UE FM and Action Research Arm Test (ARAT) were administered twice. Intraclass correlation coefficients (ICCs), Cronbach alpha, and ordinal alpha were computed to determine reliability, and Spearman rank correlation coefficients and Bland-Altman plots were computed to establish validity. Intraclass correlation coefficients for the w/h UE FM and ARAT were .95 and .99, respectively. The w/h UE FM intrarater reliability and internal consistency were greater than .80, and concurrent validity was greater than .70. This also was the first stroke rehabilitative study to apply ordinal alpha to examine internal consistency values, revealing w/h UE FM levels greater than .85. Concurrent validity findings were corroborated by Bland-Altman plots. It appears that the w/h UE FM is a promising tool to measure distal upper extremity movement in patients with little active paretic wrist and finger movement. This finding widens the segment of patients on whom the w/h UE FM can be effectively used and addresses a gap, as commonly used measures necessitate active distal upper extremity movement. © 2015 American

Establish Best Practices for Supervision of Instructors

Science.gov (United States)

2012-09-01

active participants in the feedback process, allowing them to voice their opinions and collaboratively set goals ( Norris , 1991). In the foreign...language instructional context, instructors may desire to participate in the feedback process ( Norris , 1991). Accordingly, effective instructional...13%) and Russian (11%) were the most commonly reported language offerings, followed by Chinese (9%), French (9%), Portuguese (9%), and Spanish (9

Evaluation of the heavy metals Cr, Mn, Fe, Cu, Zn and Pb in water penny wort (Hydrocotyle ranunculoides) from the upper course of the Lerma River, Mexico; Evaluacion de los metales pesados Cr, Mn, Fe, Cu, Zn y Pb en sombrerillo de agua (Hydrocotyle ranunculoides) del curso alto del Rio Lerma, Mexico

Energy Technology Data Exchange (ETDEWEB)

Zarazua, G.; Avila P, P.; Tejeda, S. [ININ, Carretera Mexico-Toluca s/n, 52750 Ocoyoacac, Estado de Mexico (Mexico); Valdivia B, M.; Macedo M, G. [Instituto Tecnologico de Toluca, Av. Tecnologico s/n, Ex-Rancho La Virgen, 52140 Metepec, Estado de Mexico (Mexico); Zepeda G, C., E-mail: graciela.zarazua@inin.gob.mx [Universidad Autonoma del Estado de Mexico, Cerro de Coatepec s/n, Ciudad Universitaria, 50100 Toluca, Estado de Mexico (Mexico)

2013-07-01

The Lerma river is one of the most polluted water bodies in Mexico, it presents low biodiversity and lets grow up aquatic plants resistant to the pollution. The aim of this work was to evaluate the concentration and bioaccumulation factors of Cr, Mn, Fe, Cu, Zn and Pb in aerial and submerged structures of water penny wort (Hydrocotyle ranunculoides) from the upper course of the Lerma river. Inductively coupled plasma-optical emission spectrometry was used to determine the concentration of heavy metals in water and H. ranunculoides. Results show that the bioaccumulation factors of Fe and Zn were higher than those of Cu, Mn, Cr and Pb; with the exception of Zn, bioaccumulation factors were higher in the submerged structures of the plant, which shows low mobility of analyzed metals. As a result of this study H. ranunculoides can be considered as good indicator of metal pollution in water bodies. (Author)

2012 Aerospace Medical Certification Statistical Handbook

Science.gov (United States)

2013-12-01

2012 Aerospace Medical Certification Statistical Handbook Valerie J. Skaggs Ann I. Norris Civil Aerospace Medical Institute Federal Aviation...Certification Statistical Handbook December 2013 6. Performing Organization Code 7. Author(s) 8. Performing Organization Report No. Skaggs VJ, Norris AI 9...2.57 Hayfever 14,477 2.49 Asthma 12,558 2.16 Other general heart pathology (abnormal ECG, open heart surgery, etc.). Wolff-Parkinson-White syndrome

Obituary: John Norris Bahcall, 1934-2005

Science.gov (United States)

Striker, Jeremiah P.; Bahcall, Neta A.

2007-12-01

John Norris Bahcall, one of the most creative and influential astrophysicists of his generation — a scientist who helped prove what makes the Sun shine and helped make the Hubble Space Telescope a reality — passed away in Pasadena, California, on 17 August 2005. Bahcall died peacefully in his sleep from a rare blood disorder. For the past 35 years, Bahcall was the Richard Black Professor of Natural Sciences at the Institute for Advanced Study in Princeton, New Jersey, where he created one of the leading astrophysics programs in the world. Active and working to the end, Bahcall said that he was always grateful for a full and happy life that exceeded his wildest expectations. Bahcall died as he lived, surrounded by the family he loved, embracing life to its fullest, happy, working and joking to the end. Bahcall's stellar career encompassed seminal contributions in numerous fields of astrophysics as well as extraordinary leadership on behalf of the scientific community, including the American Astronomical Society, the American Physical Society, the National Academy of Sciences, NASA, and Congress. Bahcall's contributions made him one of the scientific leaders of his time. He had been recognized by numerous awards including the 1998 National Medal of Science from President Clinton, the Gold Medal of the Royal Astronomical Society, the Medal of the Swedish Royal Academy, the Dan David Award, the Fermi Award, the first Hans Bethe Prize, the Franklin Medal, the Comstock Prize in physics, NASA's Exceptional Scientific Achievement Medal, NASA's Distinguished Public Service Medal, and the top awards of the American Astronomical Society — including the Russell Award, the Heineman Prize, and the Warner Prize. Bahcall was elected to the National Academy of Sciences in 1976 and to the American Philosophical Society in 2001. He was the recipient of Honorary Degrees from numerous universities around the world. Bahcall's scientific interests and expertise ranged from neutrino

PHYTOCHEMICAL ANALYSIS OF HYDROETHANOLIC EXTRACTS FROM POWDERED ROOTS OF Panax ginseng C. A. Meyer AND Heteropterys tomentosa A. Juss AND EVALUATION OF THEIR EFFECTS ON ASTROCYTE CELL DEATH

Directory of Open Access Journals (Sweden)

Andréia Gomes Bezerra

2016-06-01

Full Text Available The medicinal plants Panax ginseng C. A. Meyer (Araliaceae and Heteropterys tomentosa A. Juss (Malpighiaceae are widely and separately used by the Brazilian population as phytotherapeutics for the same medicinal purposes as tonics and to improve cognition. A chemical analysis was carried out on hydroethanolic extracts of powdered roots from P. ginseng and H. tomentosa using HPLC-DAD-ESI-MS/MS (High Performance Liquid Chromatography coupled to Diode-Array Detector and Electrospray Ionization - Mass Spectrum/Mass Spectrum. The ginsenosides Rg1, Rf, mRg and mRf were the main constituents in a hydroethanolic extract from P. ginseng, while in the hydroethanolic extract from H. tomentosa, caffeoylquinic acid derivatives and astilbin isomers were the main constituents. Concentration-time-effect curves were generated in cultures of astrocytes that were incubated with hydroethanolic extracts of these species to elucidate their toxicities. The P. ginseng extract was nontoxic at all of the tested times and concentrations. The hydroethanolic extract from H. tomentosa demonstrated toxicity at a concentration of 1000 µg/mL. P. ginseng extract had no protective effect against staurosporine. Many studies have demonstrated the neuroprotective effect of ginsenosides, caffeoylquinic derivatives and flavonoids.

When Democracy Is Not Enough

DEFF Research Database (Denmark)

Charron, Nicholas

2014-01-01

Book review of: Making Democratic Governance Work: How Regimes Shape Prosperity, Welfare, and Peace. By Pippa Norris. New York: Cambridge University Press, 2012. 279 pp., $30.99 paperback (ISBN-13: 978-1-107-60269-4).......Book review of: Making Democratic Governance Work: How Regimes Shape Prosperity, Welfare, and Peace. By Pippa Norris. New York: Cambridge University Press, 2012. 279 pp., $30.99 paperback (ISBN-13: 978-1-107-60269-4)....

Comparative phenolic compound profiles and antioxidative activity of the fruit, leaves, and roots of Korean ginseng (Panax ginseng Meyer) according to cultivation years

Science.gov (United States)

Chung, Ill-Min; Lim, Ju-Jin; Ahn, Mun-Seob; Jeong, Haet-Nim; An, Tae-Jin; Kim, Seung-Hyun

2015-01-01

Background The study of phenolic compounds profiles and antioxidative activity in ginseng fruit, leaves, and roots with respect to cultivation years, and has been little reported to date. Hence, this study examined the phenolic compounds profiles and 2, 2-diphenyl-1-picrylhydrazyl (DPPH) free-radical-scavenging activities in the fruit, leaves, and roots of Korean ginseng (Panax ginseng Meyer) as a function of cultivation year. Methods Profiling of 23 phenolic compounds in ginseng fruit, leaves, and roots was investigated using ultra-high performance liquid chromatography with the external calibration method. Antioxidative activity of ginseng fruit, leaves, and roots were evaluated using the method of DPPH free-radical-scavenging activity. Results The total phenol content in ginseng fruit and leaves was higher than in ginseng roots (p phenol content in the ginseng samples was significantly correlated to the DPPH free-radical-scavenging activity (r = 0.928****). In particular, p-coumaric acid (r = 0.847****) and ferulic acid (r = 0.742****) greatly affected the DPPH activity. Among the 23 phenolic compounds studied, phenolic acids were more abundant in ginseng fruit, leaves, and roots than the flavonoids and other compounds (p phenolic compounds in 3–6-yr-old ginseng fruit, leaves, and roots. Conclusion This study provides basic information about the antioxidative activity and phenolic compounds profiles in fruit, leaves, and roots of Korean ginseng with cultivation years. This information is potentially useful to ginseng growers and industries involved in the production of high-quality and nutritional ginseng products. PMID:26843824

Self-field ac losses in biaxially aligned Y endash Ba endash Cu endash O tape conductors

International Nuclear Information System (INIS)

Iijima, Y.; Hosaka, M.; Sadakata, N.; Saitoh, T.; Kohno, O.; Takeda, K.

1997-01-01

Self-field ac losses were measured by the conventional ac four-probe method in biaxially aligned Y endash Ba endash Cu endash O tapes using polycrystalline Hastelloy tapes with textured yttria-stabilized-zirconia buffer layers. The ac losses increased in proportion to the fourth power of transport current in the high J c sample, and agreed well with Norris close-quote equation for thin strip conductors. However, the low J c sample had rather higher losses than Norris close-quote prediction, suggesting excessive magnetic flux penetration caused by percolated current paths. The results confirmed Norris close-quote prediction of the low ac losses for thin strip conductors, and indicated the importance of removing percolated structures of current paths to avoid higher ac losses than the theoretical predictions based on uniform conductors. copyright 1997 American Institute of Physics

4- Norris.pmd

African Journals Online (AJOL)

chifaou.amzat

2011-08-20

Aug 20, 2011 ... current problems/opportunities and the possible solutions. .... are wheat, lucerne, tomatoes, spinach, watermelons, cabbages, groundnuts, ..... following activities: hydroponics, greenhouses, high-value crops, specialised.

Beyond Line of Sight (BLOS) Command and Control (C2) Capability to Improve Disaster Response and Recovery

Science.gov (United States)

2013-09-01

accessed Sept. 19, 2012). 8 Ibid. 9 Guy Norris , “Real-Time Intelligence, Surveillance & Reconnaissance (ISR) Data Sharing Technology for the “Af/Pak...in 2012.19 Spanish for the word “straight,” a derecho is a term used to describe a widespread, long- lived, straight-line windstorm that is...Network (NPSBN).” Illinois First Net. http://www.illinois.gov/firstnet/NPSBN/Pages/default.aspx. Norris , Guy. “ Real-Time Intelligence, Surveillance

Targeting Prostate Cancer with Bifunctional Modulators of the Androgen Receptor

Science.gov (United States)

2015-06-01

Wittmann, B.; Dwyer, M.; Cui, H.; Dye, D.; McDonnell, D.; Norris , J. Inhibition of prostate cancer cell growth by second-site androgen receptor antagonists...Wittmann, B.; Dwyer, M.; Cui, H.; Dye, D.; McDonnell, D.; Norris , J. Inhibition of prostate cancer cell growth by second-site androgen receptor...important clin- ical problem in diseases such as asthma (51, 52), ne- phrotic syndrome (53), and malignancies such as acute lymphoblastic leukemia (54

Morphological and molecular evidence on the existence of a single estuarine and rocky intertidal acanthocephalan species of Profilicollis Meyer, 1931 (Acanthocephala: Polymorphidae) along the Atlantic and Pacific coasts of southern South America.

Science.gov (United States)

Rodríguez, Sara M; Diaz, Julia I; D'Elía, Guillermo

2017-05-01

Profilicollis chasmagnathi Holcman-Spector, Mañé-Garzón & Dei-Cas, 1977 (Acanthocephala: Polymorphidae) has been reported to parasitise different grapsid species as intermediate hosts along the South Atlantic shores, i.e. Cyrtograpsus angulatus (Dana) and Neohelice granulata (Dana) in Uruguay and Cyrtograpsus altimanus (Rathbun) in Argentina. Larvae of a similar acanthocephalan described as Profilicollis antarcticus Zdzitowiecki, 1985 were recorded in the crab Hemigrapsus crenulatus (Milne-Edwards) from an estuarine habitat on the Southeast Pacific shore in Chile. Earlier studies have questioned the specific assignation of the Chilean estuarine populations of Profilicollis Meyer, 1931. The aim of this study was to re-examine the identification of these acanthocephalans by means of morphological and molecular analyses of cystacanths of Profilicollis spp. gathered from C. angulatus, N. granulata, C. altimanus and H. crenulatus. Our analyses showed that a single species of Profilicollis, P. chasmagnathi, parasitises these four crab species. The assessment of specimens from the South Shetlands Islands, the type-locality of P. antarcticus, is needed before formally proposing that P. antarcticus is a junior subjective synonym of P. chasmagnathi.

Targeting Histone Abnormality in Triple Negative Breast Cancer

Science.gov (United States)

2016-08-01

M.D., Ph.D. 3 1. Huang Y, Johnson KR, Norris JS, Fan W. NF-κB/IκB signaling pathway may contribute to the mediation of paclitaxel-induced...of paclitaxel-induced apoptosis in human tumor cell lines. Mol. Pharmacol., 61: 105-113, 2002. PMID: 11752211 3. Huang Y, Fang Y, Dziadyk JM, Norris ...has been shown to have important roles in many diseases including cancer.17,18 In this study, we addressed the following clinically relevant issues

Fisheries Handbook of Engineering Requirements and Biological Criteria,

Science.gov (United States)

1986-01-01

species whose desease organisms. Deep wells require pumping and fre- specific function is to supply game fish. There is a large quently carry an excess...1966. 126(3266):212-213. August 2, 1957. 22. Fry, F.E.J. and K.S. Norris , "The transportation of live 30. Eisler, Ronald and Tadeus Backiel...8217" 301. June, 1967. chloretone and M.S. 222 on eastern brook trout." The Progressive Fish-Culturist, 20(3):104-110, July, 1958. 24. Norris , Kenneth S

Gamma-ray Burst X-ray Flares Light Curve Fitting

Science.gov (United States)

Aubain, Jonisha

2018-01-01

Gamma Ray Bursts (GRBs) are the most luminous explosions in the Universe. These electromagnetic explosions produce jets demonstrated by a short burst of prompt gamma-ray emission followed by a broadband afterglow. There are sharp increases of flux in the X-ray light curves known as flares that occurs in about 50% of the afterglows. In this study, we characterized all of the X-ray afterglows that were detected by the Swift X-ray Telescope (XRT), whether with flares or without. We fit flares to the Norris function (Norris et al. 2005) and power laws with breaks where necessary (Racusin et al. 2009). After fitting the Norris function and power laws, we search for the residual pattern detected in prompt GRB pulses (Hakkila et al. 2014, 2015, 2017), that may indicate a common signature of shock physics. If we find the same signature in flares and prompt pulses, it provides insight into what causes them, as well as, how these flares are produced.

Quantum theory and the flight from realism philosophical responses to quantum mechanics

CERN Document Server

Norris, Christopher

2002-01-01

This book is a critical introduction to the long-standing debate concerning the conceptual foundations of quantum mechanics and the problems it has posed for physicists and philosophers from Einstein to the present. Quantum theory has been a major infulence on postmodernism, and presents significant problems for realists. Keeping his own realist position in check, Christopher Norris subjects a wide range of key opponents and supporters of realism to a high and equal level of scrutiny. With a characteristic combination of rigour and intellectual generosity, he draws out the merits and weaknesses from opposing arguments. In a sequence of closely argued chapters, Norris examines the premises of orthodox quantum theory, as developed most influentially by Bohr and Heisenberg, and its impact on varous philosophical developments. These include the ideas developed by W.V Quine, Thomas Kuhn, Michael Dummett, Bas van Fraassen, and Hilary Puttnam. In each case, Norris argues, these thinkers have been influenced by the...

07 Meyer 03.pmd

African Journals Online (AJOL)

Owner

29 Jul 2010 ... geboorteplaas, moet die roman gelees word teen die agtergrond van die ontwikkeling van die plaasroman. ..... traumatic memory into narrative memory”. Die gevangenskap ..... Journal of Loss and Trauma,. 11: 321–35. Wylde ...

Variation in the number of nucleoli and incomplete homogenization of 18S ribosomal DNA sequences in leaf cells of the cultivated Oriental ginseng (Panax ginseng Meyer).

Science.gov (United States)

Chelomina, Galina N; Rozhkovan, Konstantin V; Voronova, Anastasia N; Burundukova, Olga L; Muzarok, Tamara I; Zhuravlev, Yuri N

2016-04-01

Wild ginseng, Panax ginseng Meyer, is an endangered species of medicinal plants. In the present study, we analyzed variations within the ribosomal DNA (rDNA) cluster to gain insight into the genetic diversity of the Oriental ginseng, P. ginseng, at artificial plant cultivation. The roots of wild P. ginseng plants were sampled from a nonprotected natural population of the Russian Far East. The slides were prepared from leaf tissues using the squash technique for cytogenetic analysis. The 18S rDNA sequences were cloned and sequenced. The distribution of nucleotide diversity, recombination events, and interspecific phylogenies for the total 18S rDNA sequence data set was also examined. In mesophyll cells, mononucleolar nuclei were estimated to be dominant (75.7%), while the remaining nuclei contained two to four nucleoli. Among the analyzed 18S rDNA clones, 20% were identical to the 18S rDNA sequence of P. ginseng from Japan, and other clones differed in one to six substitutions. The nucleotide polymorphism was more expressed at the positions 440-640 bp, and distributed in variable regions, expansion segments, and conservative elements of core structure. The phylogenetic analysis confirmed conspecificity of ginseng plants cultivated in different regions, with two fixed mutations between P. ginseng and other species. This study identified the evidences of the intragenomic nucleotide polymorphism in the 18S rDNA sequences of P. ginseng. These data suggest that, in cultivated plants, the observed genome instability may influence the synthesis of biologically active compounds, which are widely used in traditional medicine.

There is plenty of room for motor learning at the bottom of the Fugl-Meyer: Acquisition of a novel bimanual wheelchair skill after chronic stroke using an unmasking technology.

Science.gov (United States)

Sarigul-Klijn, Yasemin; Lobo-Prat, Joan; Smith, Brendan W; Thayer, Sage; Zondervan, Daniel; Chan, Vicky; Stoller, Oliver; Reinkensmeyer, David J

2017-07-01

Many people with a stroke have a severely paretic arm, and it is often assumed that they are unable to learn novel, skilled behaviors that incorporate use of that arm. Here, we show that a group of people with chronic stroke (n = 5, upper extremity Fugl-Meyer scores: 31, 30, 26, 22, 8) learned to use their impaired arm to propel a novel, yoked-clutch lever drive wheelchair. Over six daily training sessions, each involving about 134 training movements with their "useless" arm, the users gradually achieved a 3-fold increase in wheelchair speed on average, with a 4-6 fold increase for three of the participants. They did this by learning a bimanual skill: pushing the levers with both arms while activating the yoked-clutches at the right time with their ipsilesional (i.e. "good") hand to propel the wheelchair forward. They perceived the task as highly motivating and useful. The speed improvements exceeded a 1.5-factor improvement observed when young, unimpaired users learned to propel the chair. The learning rate also exceeded a sample of learning rates from a variety of classic learning studies. These results suggest that appropriately-designed assistive technologies (or "unmasking technologies - UTs") can unleash a powerful, latent ability for motor learning even for severely paretic arms. While UTs may not reduce clinical impairment, they may facilitate large improvements in a specific functional ability.

Stimulation model for lenticular sands: Volume 2, Users manual

Energy Technology Data Exchange (ETDEWEB)

Rybicki, E.F.; Luiskutty, C.T.; Sutrick, J.S.; Palmer, I.D.; Shah, G.H.; Tomutsa, L.

1987-07-01

This User's Manual contains information for four fracture/proppant models. TUPROP1 contains a Geertsma and de Klerk type fracture model. The section of the program utilizing the proppant fracture geometry data from the pseudo three-dimensional highly elongated fracture model is called TUPROPC. The analogous proppant section of the program that was modified to accept fracture shape data from SA3DFRAC is called TUPROPS. TUPROPS also includes fracture closure. Finally there is the penny fracture and its proppant model, PENNPROP. In the first three chapters, the proppant sections are based on the same theory for determining the proppant distribution but have modifications to support variable height fractures and modifications to accept fracture geometry from three different fracture models. Thus, information about each proppant model in the User's Manual builds on information supplied in the previous chapter. The exception to the development of combined treatment models is the penny fracture and its proppant model. In this case, a completely new proppant model was developed. A description of how to use the combined treatment model for the penny fracture is contained in Chapter 4. 2 refs.

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Science.gov (United States)

Romaniello, Romina; Arrigoni, Filippo; Citterio, Andrea; Tonelli, Alessandra; Sforzini, Cinzia; Rizzari, Carmelo; Pessina, Marco; Triulzi, Fabio; Bassi, Maria Teresa; Borgatti, Renato

2013-12-01

Mutations in the conserved telomere maintenance component 1 (CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie disease protein (NDP) gene was found mutated in Norrie disease, in Familial Exudative Vitreoretinopathy, and in Coats syndrome. Here we describe a boy affected by Norrie disease who developed typical features of cerebroretinal microangiopathy with calcifications and cysts. Direct sequencing of the CTC1 and NDP genes in this patient shows the presence of compound heterozygosity for 2 mutations in CTC1 (c.775G>A, pV259M and a novel microdeletion c.1213delG) and a missense mutation in the NDP gene (c.182T>C, p.L61P). Based on these genetic findings and on the expression of both genes in endothelial cells, we postulate that microangiopathy might be a primary underlying pathologic abnormality in cerebroretinal microangiopathy with calcifications and cysts. This hypothesis is further supported by magnetic resonance imaging (MRI) data showing multiple minute calcifications in the deep gray nuclei and in terminal arteriolar zones.

Value Focused Thinking Approach Using Multivariate Validation for Junior Enlisted Performance Reporting in the United States Air Force

Science.gov (United States)

2014-03-22

Dataset) ...................... 102 Equation 12. Kaiser-Meyer-Olkin ( KMO ) Index Measure of Sampling Adequacy ....... 102 Equation 13. Bartlett’s Test of...was performed was the Kaiser-Meyer-Olkin (Kaiser, 1970) test. The Kaiser-Meyer- Olkin ( KMO ) test was used as an index to measure sampling adequacy. In...essence KMO is a measure of the strength of the relationship among variables (Williams et al., 2012). The KMO formula is shown in Equation 12

Cost of Convenience Food Booklet

OpenAIRE

Sagers, Diana

2005-01-01

Making wise food choices is particularly important for families on limited incomes. Today’s supermarket has thousands of foods to choose from. Penny-wise shoppers consider many factors when selecting groceries.

Miniature 70-W Brushless Motor-Controller for Compact Extraterrestrial-Based Actuation, Phase I

Data.gov (United States)

National Aeronautics and Space Administration — This SBIR will support rover locomotion and manipulation with a system of newly-developed penny-sized 70-W brushless servomotor controllers that are networked on a...

Miniature 70-W Brushless Motor-Controller for Compact Extraterrestrial-Based Actuation, Phase II

Data.gov (United States)

National Aeronautics and Space Administration — This SBIR will support rover locomotion and manipulation with a system of newly-developed penny-sized 70-W brushless servomotor controllers that are networked on a...

A point mutation (L1015F) of the voltage-sensitive sodium channel gene associated with lambda-cyhalothrin resistance in Apolygus lucorum (Meyer-Dür) population from the transgenic Bt cotton field of China.

Science.gov (United States)

Zhen, Congai; Gao, Xiwu

2016-02-01

In China, the green mirid bug, Apolygus lucorum (Meyer-Dür), has caused severe economic damage to many kinds of crops, especially the cotton and jujubes. Pyrethroid insecticides have been widely used for controlling this pest in the transgenic Bt cotton field. Five populations of A. lucorum collected from cotton crops at different locations in China were evaluated for lambda-cyhalothrin resistance. The results showed that only the population collected from Shandong Province exhibited 30-fold of resistance to lambda-cyhalothrin. Neither PBO nor DEF had obvious synergism when compared the synergistic ratio between SS and RR strain which was originated from the Shandong population. Besides, there were no statistically significant differences (p>0.05) in the carboxylesterase, glutathione S-transferase, or 7-ethoxycoumarin O-deethylase activities between the Shandong population and the laboratory susceptible strain (SS). The full-length sodium channel gene named AlVSSC encoding 2028 amino acids was obtained by RT-PCR and rapid amplification of cDNA ends (RACE). One single point mutation L1015F in the AlVSSC was detected only in the Shandong population. Our results revealed that the L1015F mutation associated with pyrethroid resistance was identified in A. lucorum populations in China. These results will be useful for the rational chemical control of A. lucorum in the transgenic Bt cotton field. Copyright © 2015 Elsevier Inc. All rights reserved.

Some remarks about biometric characters of skulls of Hippopotamus pentlandi Von Meyer (Cannita Cave, Sicily and pleistocene hippopotami of Western Europe / Osservazioni sui caratteri biometrici del cranio di Hippopotamus pentlandi Von Meyer della grotta della Cannita (Sicilia e degli ippopotami pleistocenici dell'Europa Occidentale

Directory of Open Access Journals (Sweden)

Lucia Caloi

1986-12-01

Full Text Available Abstract Biometric data from the examination of skulls of Hippopotamus pentlandi Von Meyer (Canninita cave, Palermo, Sicily are compared with the data relative to the skulls of two fossil hippos of european Pleistocene and of the living species Hippopotamus amphibius Linnaeus. Even taking into account the inhomogeneity of the fossil specimens and the deformation suffered by the skulls of H. pentlandi from Cannita cave, the examination confirms on one hand the stronger affinity of the sicilian species with the living H. amphibius and from the other hand the peculiarities that characterize this form with respect to the european continental ones. A comparative examination of the biometric characters of the skull of these latter species confirms the greater distance of H. antiquus Desmarest from the living species. It is stressed how the relations between the less bulky Pleistocene species (Hippopotamus incognitus Faure with H. antiquus and with the living H. amphibius have not yet been completely clarified, owing both to the scantiness of the documentation and to the strong variability observed in the biometric characters of the few known skulls. It is noted how, in any case, this fossil form appears more similar to the living H. amphibius. For the moment its distinction at a specific level is accepted, even if with reservation, taking into account also the distinctive elements recognized in the post-cranial skeleton (FAURE, 1985, not examined here. Riassunto Vengono analizzati e posti a confronto i dati biometrici ricavati dall'analisi dei crani di Hippopotamus pentlandi Von Heyer della Grotta della Cannita (Palermo, Sicilia, degli ippopotami fossili del Pleistocene continentale europeo e della specie vivente Hippopotamus amphibius Linnaeus. Vengono da un lato confermate le maggiori affinità tra H. pentlandi