Mayomikun Jay - Academia.edu (original) (raw)

Papers by Mayomikun Jay

Research paper thumbnail of No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity

Genomics, 1990

Retinitis pigmentosa is an inherited form of blindness caused by progressive retinal degeneration... more Retinitis pigmentosa is an inherited form of blindness caused by progressive retinal degeneration. P. McWilliam et al. (1989, Genomics 5: 619-622) demonstrated close genetic linkage between autosomal dominant retinitis pigmentosa (ADRP) and locus D3S47 (C17) in a single early onset pedigree. The marker C17 maps to the long arm of chromosome 3. Clinically, the disease phenotype has been subdivided into at least two forms on the basis of age of onset, as well as electrodiagnostic criteria. We demonstrate that C17 is unlinked in a late onset pedigree, indicating that the phenotypic variation seen reflects underlying genetic heterogeneity.

Research paper thumbnail of Linkage mapping in 29 Bardet–Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22. 3–q23, and 16q21

3, 1331-1335), or on chromosome 2 or 17, arguing against the involvement of a BBS locus in a pati... more 3, 1331-1335), or on chromosome 2 or 17, arguing against the involvement of a BBS locus in a patient Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder with a t(2;17) translocation. ᭧ 1997 Academic Press characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and renal anomalies. To detect linkage to BBS loci, 29 BBS fami-INTRODUCTION lies, of mixed but predominantly European ethnic origin, were typed with 37 microsatellite markers on Bardet-Biedl syndrome (BBS; MIM 209900) is an chromosomes 2, 3, 11, 15, 16, and 17. The results show autosomal recessive condition in which the five that an estimated 36-56% of the families are linked to cardinal features of retinal degeneration, polydactyly, the 11q13 chromosomal site (BBS1) previously deobesity, hypogenitalism, and mental retardation are scribed by M. Leppert et al. (1994, Nature Genet. 7, 108manifest to varying degrees within and between fami-112), with the gene order cen-D11S480-5 cM-BBS1lies (Schachat and Maumenee, 1982; Green et al., 3 cM-D11S913/D11S987-qter. A further 32-35% of the 1989). Renal anomalies are another common manifesfamilies are linked to the BBS4 locus, reported by R. Carmi et al. (1995, Hum. Mol. Genet. 4, 9-13) in chromo-tation, often causing significant morbidity, so that this somal region 15q22.3-q23, with the gene order cen-is increasingly regarded as a cardinal sign (Harnett et D15S125-5 cM-BBS4-2 cM-D15S131/D15S204-qter. al., 1988; Green et al., 1989). The population prevalence Three consanguineous BBS families are homozygous varies from 1 in 17,500 to 1 in 160,000 in different for three adjacent chromosome 15 markers, consistent populations (Green et al., 1989; Klein and Ammann, with identity by descent for this region. In one of these 1969), with high local frequencies within certain Arab families haplotype analysis supports a localization for groups associated with a high frequency of consanguin-BBS4 between D15S131 and D15S114, a distance of eous marriages (Farag and Teebi, 1989). Linkage has about 2 cM. Weak evidence of linkage to the 16q21 been reported to distinct BBS loci in 3 large consan-(BBS2) region reported by A. E. Kwitek-Black et al. guineous Bedouin kindreds at chromosomal regions (1993, Nature Genet. 5, 392-396) was observed in 24-3p13-p12 (BBS3), 15q22.3-q23 (BBS4), and 16q21 27% of families with the gene order cen-D16S408-2 (BBS2) (Sheffield et al., 1994; Carmi et al., 1995a; Kwi-cM-BBS2-5 cM-D16S400. A fourth group of families, tek-Black et al., 1993) and in a heterogeneous group of estimated at 8%, are unlinked to all three of the above 31 North American BBS families to chromosomal reloci, showing that at least one other BBS locus remains gion 11q13 (BBS1) (Leppert et al., 1994). A clinical to be found. No evidence of linkage was found to markstudy of 11 Scandinavian families with Bardet-Biedl ers on chromosome 3, corresponding to the BBS3 locus, syndrome, all of whom are included in the present reported by V. C. Sheffield et al. (1994, Hum. Mol. Genet. study, emphasized the relatively broad phenotypic manifestations of the disorder within and between fam-* To whom correspondence should be addressed at MRC Human ilies and confirmed the increased prevalence of associ

Research paper thumbnail of Remembering the Holocaust: A debate

... York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico ... more ... York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico City Nairobi New Delhi Shanghai Taipei Toronto With offices in Argentina Austria Brazil ... 27–84); Alexander et al., Cultural Trauma and Collective Identity (University of ...

Research paper thumbnail of Noninvasive measurement of protein release from subcutaneous depo formulations in vivo using X-ray fluorescence

Journal of controlled …, 1995

The feasibility of using radioisotope-induced X-ray fluorescence (XRF) as a noninvasive method to... more The feasibility of using radioisotope-induced X-ray fluorescence (XRF) as a noninvasive method to measure the release rate of peptides/proteins from hydrogels or other formulations in vivo following subcutaneous administration has been demonstrated. A sodium phosphate buffer solution (PBS) containing 52 mg/ml of iodinated bovine serum albumin (I-BSA) was administered subcutaneously in female Sprague-Dawley rats and the administration site was fluoresced at regular intervals over a 24-96 h period. The variation in the iodine X-ray yield with time indicated that the disappearance of I-BSA alone followed first order kinetics with a half-life of approximately 6.6 h. When the I-B SA was formulated into a polymeric hydrogel of poly (acrylic acid) (Carbopol-940), a significant increase in the half-life was observed. As the Carbopol concentration was increased from 5.61 to 18.75 mg/ml, the disappearance half-life increased from 6.3 to 14.0 h. Free iodide loaded into the Carbopol gel at equivalent concentrations had a disappearance half-life of 13.8 min.

Research paper thumbnail of A New Approach to Plant Diversity Assessment Combining HPLC Data, Simplex Mixture Design and Discriminant Analysis

Environmental Modeling and …, 2008

... Environ Model Assess (2008) 13:17–33 DOI 10.1007/s10666-006-9082-2 DO09082; No of Pages N. Se... more ... Environ Model Assess (2008) 13:17–33 DOI 10.1007/s10666-006-9082-2 DO09082; No of Pages N. Semmar (*) Institut Supérieur des Sciences Biologiques Appliquées de Tunis (ISSBAT), 9 RueZouhair Essafi, 1006 Tunis, Tunisia e-mail: nabilsemmar@yahoo.fr ...

Research paper thumbnail of Enhanced chemotaxis and superoxide anion production by polymorphonuclear leukocytes from nicotine-treated and smoke-exposed rats

Toxicology, 1987

Although previous studies have shown that polymorphonuclear leukocytes (PMNs) exposed to nicotine... more Although previous studies have shown that polymorphonuclear leukocytes (PMNs) exposed to nicotine in vitro exhibit enhanced superoxide anion generation and chemotactic responses, it is not known whether in vivo exposure to the alkaloid causes the same alterations in PMN function. Accordingly, this study evaluated superoxide anion generation evoked by phorbol myristate acetate (PMA) and chemotactic responses to formylmethionylleucylphenylalanine (fMLP) in PMNs isolated from rats treated acutely or subchronically with nicotine and from rats chronically exposed to cigarette smoke. Acute or subchronic (twice daily for 7 days) i.p. injection of 0.2 or 0.02 mg/kg nicotine potentiated PMA-induced superoxide anion generation by PMNs. Similarly, acute i.p. injection of 0.2 mg/kg nicotine or subchronic treatment with 0.02 mg/kg nicotine potentiated fMLP-induced chemotaxis. Subchronic treatment with 0.2 mg/kg of the alkaloid blunted fMLP-induced chemotaxis, in contrast to the potentiating actions of the lower dose. Treatment with nicotine mimicked the effects of tobacco smoke exposure. A 15week exposure regimen to either sidestream and mainstream smoke from University of Kentucky 2R1 reference cigarettes potentiated PMA-induced superoxide anion generation. Mainstream but not sidestream smoke also enhanced chemotactic responses to fMLP. Viewed collectively, these observations indicate that in vivo exposure to nicotine or to tobacco smoke aug-*On leave from the

Research paper thumbnail of Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms

A genomewide linkage scan was carried out in eight clinical samples of informative schizophrenia ... more A genomewide linkage scan was carried out in eight clinical samples of informative schizophrenia families. After all quality control checks, the analysis of 707 European-ancestry families included 1,615 affected and 1,602 unaffected genotyped individuals, and the analysis of all 807 families included 1900 affected and 1839 unaffected individuals. Multipoint linkage analysis with correction for marker-marker linkage disequilibrium was carried out with 5,861 single nucleotide polymorphisms (SNPs; Illumina 4.0 linkage map). Suggestive evidence for linkage (European families) was observed on chromosomes 8p21, 8q24.1, 9q34 and 12q24.1 in non-parametric and/ or parametric analyses. In a logistic regression allele-sharing analysis of linkage allowing for intersite heterogeneity, genomewide significant evidence for linkage was observed on chromosome 10p12. Significant heterogeneity was also observed on chromosome 22q11.1.

Research paper thumbnail of Flavonoid glycosides and an anthraquinone from Rumex chalepensis

Phytochemistry, 1995

Besides rutin, quercetin 3-rhamnoside and kaempferol 3-rhamnosyl(1-, 6) galactoside, a new flavon... more Besides rutin, quercetin 3-rhamnoside and kaempferol 3-rhamnosyl(1-, 6) galactoside, a new flavonol glycoside, quercetin 3-glucosyl(1-, 4)galactoside, and 1,6,8-trihydroxy-3-methyl anthraquinone (emodin) have been characterized from leaves of Rumex chalepensis. The structures were established on the basis of Rf values, acid hydrolysis to aglycone and sugar and UV, E1 and FAB-mass spectra, tH NMR, ~3C DEPT NMR, NOE difference measurement, ~H-H COSY and 1H-13C COSY spectral data.

Research paper thumbnail of The atmosphere of heaven: The unnatural experiments of Dr. Beddoes and his sons of genius

At the Pneumatic Institution in Bristol, founded in the closing years of the eighteenth century, ... more At the Pneumatic Institution in Bristol, founded in the closing years of the eighteenth century, dramatic experiments with gases precipitated not only a revolution in scientific medicine but also in the history of ideas. Guided by the energy of maverick doctor Thomas Beddoes, the Institution was both laboratory and hospital - the first example of a modern medical research institution, but when its members discovered the mind-altering properties of nitrous oxide, or laughing gas, their experiments devolved into a pioneering exploration of consciousness with far-reaching and unforeseen effects.This riveting book is the first to tell the story of Dr. Beddoes and the brilliant circle who surrounded him: Erasmus Darwin, Samuel Taylor Coleridge, and Robert Southey, who supported his ideas; James Watt, who designed and built his laboratory; Thomas Wedgwood, who funded it; and, his dazzling young chemistry assistant, Humphry Davy, who identified nitrous oxide and tested it on himself, with spectacular results. Medical historian Mike Jay charts the chaotic rise and fall of the Institution in this fast-paced account, and reveals its crucial influence - on modern drug culture, attitudes toward objective and subjective knowledge, the development of anaesthetic surgery, and the birth of the Romantic movement.

Research paper thumbnail of Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1. 28

Retinitis pigmentosa (RP) is a group of retinal degenerations characterized by progressive visual... more Retinitis pigmentosa (RP) is a group of retinal degenerations characterized by progressive visual field loss, night blindness and pigmentary retinopathy 1. Its prevalence is in the region of 1− 2 in 5,000 of the general population, making it one of the commoner causes of ...

Research paper thumbnail of Localization of two genes for Usher syndrome type I to chromosome 11

Genomics, 1992

Richard JH Smith*, Corresponding Author Contact Information, Elizabeth C. Lee*, William J. Kimber... more Richard JH Smith*, Corresponding Author Contact Information, Elizabeth C. Lee*, William J. Kimberling†, Stephen P. Daiger‡, Mary Z. Pelias§ , Bronya JB Keats § , Marcelle Jay double vertical bar, Alan Bird double vertical bar, William Reardon f, Mary Guest¶, Radha ...

Research paper thumbnail of Retrograde spreading of hydrocortisone enema in inflammatory bowel disease

Digestive diseases and …, 1986

Radiolabeling of Enema. To 60 ml of an aqueous hydrocortisone enema (Cortenema | was added 50 ixC... more Radiolabeling of Enema. To 60 ml of an aqueous hydrocortisone enema (Cortenema | was added 50 ixCi of [99mTc]technetium sulfur colloid. This particular radiopharmaceutical was chosen because of its proximity in particle size (0.5-1.5 Ixm) to the size of the hydrocortisone particles (<10 txm) in the preparation.

Research paper thumbnail of The Control, environmental sustainability and information management of Maori land in New Zealand

… Education and Information, 1997

An increase in Maori land claims and the subsequent settlement of a number of land confiscation g... more An increase in Maori land claims and the subsequent settlement of a number of land confiscation grievances have prompted calls for change to the land management, cadastral and legal regimes in New Zealand. There is little expert agreement as to Me shape any such reforms should ...

Research paper thumbnail of Kaitiakitanga: protecting New Zealand's native biodiversity

Biologist, 2000

Species diversity is a very important component of a healthy ecosystem, and a necessary condition... more Species diversity is a very important component of a healthy ecosystem, and a necessary condition for long-term sustainable development. However, it is widely recognised that species extinction is on the increase in New Zealand, as biological diversity comes under pressure from landuse activity and environmental change. Despite an active official conservation programme, the indigenous biodiversity of New Zealand (and its major regional partner Australia) is under threat. As international experience elsewhere has shown, the restoration of biological heritage (in the form of biodiversity conservation) draws greatly on the commitment of local resource users and communities, rather than government intervention or planning regulations alone. Nevertheless, environmental planners can have an important role to play in this respect, because they are often experienced in mediating between the, somewhat incompatible, interests of conservationists, resource users and local communities. But, in order to be effective in this mediation role, planners have to consolidate their professional skill base with greater awareness of landscape ecology and species biology, and with more commitment to the involvement of indigenous Maori in the process.

Research paper thumbnail of Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site

Genomics, 1991

Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigm... more Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigmentosa (ADRP) have recently been described. We report four new rhodopsin mutations in ADRP families, initially identified as hetero-duplexed PCR fragments on hydrolink gels. One is an in-frame 12-bp deletion of codons 68 to 71. The other three are point mutations involving codons 190, 211, and 296. Each alters the amino acid encoded. The codon 190 mutation has been detected in 2 from a panel of 34 ADRP families, while the remaining mutations were seen in single families. This suggests that, consistent with a dominant condition, no single mutation will account for a large fraction of ADRP cases. The base substitution in codon 296 alters the lysine residue that functions as the attachment site for 11-cis-retinal, mutating it to glutamic acid. This mutation occurs in a family with an unusually severe phenotype, resulting in early onset of disease and cataracts in the third or fourth decade of life. This result demonstrates a correlation between the location of the mutation and the severity of phenotype in rhodopsin RP.

Research paper thumbnail of Initiation codon mutation of the tyrosinase gene as a cause of human albinism

Clinica chimica acta, 1994

Research paper thumbnail of Refractions of violence

... It was later refined at the gathering of contributors as -sembled by Jay Winter and Emmanuel ... more ... It was later refined at the gathering of contributors as -sembled by Jay Winter and Emmanuel Sivan in Chinchón, Spain for the volume on ... another, less serious moment in the German response to war, that occasioned by my participation in the founding of the Peace University in ...

Research paper thumbnail of Thyroid surgery and voice‐related outcomes

ANZ Journal of Surgery, 2001

We read with interest the aforementioned article by McIvor et al. 1 We have certain observations ... more We read with interest the aforementioned article by McIvor et al. 1 We have certain observations to make in this regard. (1) The authors mentioned timing for subjective voice analysis (not less than 2 months following surgery) but there was no mention of the time interval at which objective voice analysis was done. The authors reported that two patients who had recurrent laryngeal nerve (RLN) palsy recovered at 10 weeks and 20 weeks. Had they done the analysis at 6 months after operation the results could have been different. Can they recommend an optimal time at which such analysis should be undertaken? (2) The authors mentioned that they take care to avoid ligation of the external laryngeal nerve (ELN) but they did not clarify whether they routinely identify the RLN. This needs clarification because routine identification of the RLN has been shown to decrease nerve injury. 2 (3) Out of 50 cases, 25 underwent total thyroidectomy and the remainder underwent either subtotal or hemithyroidectomy. It would have been better to compare outcome of voice among these groups because the amount of dissection and risk to the RLN and ELN vary among these procedures. 3 The authors have proposed a good objective measure for patients undergoing thyroidectomy but, because the number of cases in their series was small, it is not possible to analyse the impact of various factors on voice-related outcome. Further controlled study may provide some definitive answers in this regard.

Research paper thumbnail of ARTICLES-INTERFACES: ADSORPTION, REACTIONS, FILMS, ASSEMBLIES, FORCES-Metal Sintering in Rh/Al2O3 Catalysts Followed by HREM, 1H NMR, and H2 Chemisorption

Research paper thumbnail of Molecular genetic approaches to the analysis of human ophthalmic disease

RJ : Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscu lar dy... more RJ : Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscu lar dystrophy, chronic granulomatous disease , retinitis pigmentosa, and McLeod syndrome. Am

Research paper thumbnail of No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity

Genomics, 1990

Retinitis pigmentosa is an inherited form of blindness caused by progressive retinal degeneration... more Retinitis pigmentosa is an inherited form of blindness caused by progressive retinal degeneration. P. McWilliam et al. (1989, Genomics 5: 619-622) demonstrated close genetic linkage between autosomal dominant retinitis pigmentosa (ADRP) and locus D3S47 (C17) in a single early onset pedigree. The marker C17 maps to the long arm of chromosome 3. Clinically, the disease phenotype has been subdivided into at least two forms on the basis of age of onset, as well as electrodiagnostic criteria. We demonstrate that C17 is unlinked in a late onset pedigree, indicating that the phenotypic variation seen reflects underlying genetic heterogeneity.

Research paper thumbnail of Linkage mapping in 29 Bardet–Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22. 3–q23, and 16q21

3, 1331-1335), or on chromosome 2 or 17, arguing against the involvement of a BBS locus in a pati... more 3, 1331-1335), or on chromosome 2 or 17, arguing against the involvement of a BBS locus in a patient Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder with a t(2;17) translocation. ᭧ 1997 Academic Press characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and renal anomalies. To detect linkage to BBS loci, 29 BBS fami-INTRODUCTION lies, of mixed but predominantly European ethnic origin, were typed with 37 microsatellite markers on Bardet-Biedl syndrome (BBS; MIM 209900) is an chromosomes 2, 3, 11, 15, 16, and 17. The results show autosomal recessive condition in which the five that an estimated 36-56% of the families are linked to cardinal features of retinal degeneration, polydactyly, the 11q13 chromosomal site (BBS1) previously deobesity, hypogenitalism, and mental retardation are scribed by M. Leppert et al. (1994, Nature Genet. 7, 108manifest to varying degrees within and between fami-112), with the gene order cen-D11S480-5 cM-BBS1lies (Schachat and Maumenee, 1982; Green et al., 3 cM-D11S913/D11S987-qter. A further 32-35% of the 1989). Renal anomalies are another common manifesfamilies are linked to the BBS4 locus, reported by R. Carmi et al. (1995, Hum. Mol. Genet. 4, 9-13) in chromo-tation, often causing significant morbidity, so that this somal region 15q22.3-q23, with the gene order cen-is increasingly regarded as a cardinal sign (Harnett et D15S125-5 cM-BBS4-2 cM-D15S131/D15S204-qter. al., 1988; Green et al., 1989). The population prevalence Three consanguineous BBS families are homozygous varies from 1 in 17,500 to 1 in 160,000 in different for three adjacent chromosome 15 markers, consistent populations (Green et al., 1989; Klein and Ammann, with identity by descent for this region. In one of these 1969), with high local frequencies within certain Arab families haplotype analysis supports a localization for groups associated with a high frequency of consanguin-BBS4 between D15S131 and D15S114, a distance of eous marriages (Farag and Teebi, 1989). Linkage has about 2 cM. Weak evidence of linkage to the 16q21 been reported to distinct BBS loci in 3 large consan-(BBS2) region reported by A. E. Kwitek-Black et al. guineous Bedouin kindreds at chromosomal regions (1993, Nature Genet. 5, 392-396) was observed in 24-3p13-p12 (BBS3), 15q22.3-q23 (BBS4), and 16q21 27% of families with the gene order cen-D16S408-2 (BBS2) (Sheffield et al., 1994; Carmi et al., 1995a; Kwi-cM-BBS2-5 cM-D16S400. A fourth group of families, tek-Black et al., 1993) and in a heterogeneous group of estimated at 8%, are unlinked to all three of the above 31 North American BBS families to chromosomal reloci, showing that at least one other BBS locus remains gion 11q13 (BBS1) (Leppert et al., 1994). A clinical to be found. No evidence of linkage was found to markstudy of 11 Scandinavian families with Bardet-Biedl ers on chromosome 3, corresponding to the BBS3 locus, syndrome, all of whom are included in the present reported by V. C. Sheffield et al. (1994, Hum. Mol. Genet. study, emphasized the relatively broad phenotypic manifestations of the disorder within and between fam-* To whom correspondence should be addressed at MRC Human ilies and confirmed the increased prevalence of associ

Research paper thumbnail of Remembering the Holocaust: A debate

... York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico ... more ... York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico City Nairobi New Delhi Shanghai Taipei Toronto With offices in Argentina Austria Brazil ... 27–84); Alexander et al., Cultural Trauma and Collective Identity (University of ...

Research paper thumbnail of Noninvasive measurement of protein release from subcutaneous depo formulations in vivo using X-ray fluorescence

Journal of controlled …, 1995

The feasibility of using radioisotope-induced X-ray fluorescence (XRF) as a noninvasive method to... more The feasibility of using radioisotope-induced X-ray fluorescence (XRF) as a noninvasive method to measure the release rate of peptides/proteins from hydrogels or other formulations in vivo following subcutaneous administration has been demonstrated. A sodium phosphate buffer solution (PBS) containing 52 mg/ml of iodinated bovine serum albumin (I-BSA) was administered subcutaneously in female Sprague-Dawley rats and the administration site was fluoresced at regular intervals over a 24-96 h period. The variation in the iodine X-ray yield with time indicated that the disappearance of I-BSA alone followed first order kinetics with a half-life of approximately 6.6 h. When the I-B SA was formulated into a polymeric hydrogel of poly (acrylic acid) (Carbopol-940), a significant increase in the half-life was observed. As the Carbopol concentration was increased from 5.61 to 18.75 mg/ml, the disappearance half-life increased from 6.3 to 14.0 h. Free iodide loaded into the Carbopol gel at equivalent concentrations had a disappearance half-life of 13.8 min.

Research paper thumbnail of A New Approach to Plant Diversity Assessment Combining HPLC Data, Simplex Mixture Design and Discriminant Analysis

Environmental Modeling and …, 2008

... Environ Model Assess (2008) 13:17–33 DOI 10.1007/s10666-006-9082-2 DO09082; No of Pages N. Se... more ... Environ Model Assess (2008) 13:17–33 DOI 10.1007/s10666-006-9082-2 DO09082; No of Pages N. Semmar (*) Institut Supérieur des Sciences Biologiques Appliquées de Tunis (ISSBAT), 9 RueZouhair Essafi, 1006 Tunis, Tunisia e-mail: nabilsemmar@yahoo.fr ...

Research paper thumbnail of Enhanced chemotaxis and superoxide anion production by polymorphonuclear leukocytes from nicotine-treated and smoke-exposed rats

Toxicology, 1987

Although previous studies have shown that polymorphonuclear leukocytes (PMNs) exposed to nicotine... more Although previous studies have shown that polymorphonuclear leukocytes (PMNs) exposed to nicotine in vitro exhibit enhanced superoxide anion generation and chemotactic responses, it is not known whether in vivo exposure to the alkaloid causes the same alterations in PMN function. Accordingly, this study evaluated superoxide anion generation evoked by phorbol myristate acetate (PMA) and chemotactic responses to formylmethionylleucylphenylalanine (fMLP) in PMNs isolated from rats treated acutely or subchronically with nicotine and from rats chronically exposed to cigarette smoke. Acute or subchronic (twice daily for 7 days) i.p. injection of 0.2 or 0.02 mg/kg nicotine potentiated PMA-induced superoxide anion generation by PMNs. Similarly, acute i.p. injection of 0.2 mg/kg nicotine or subchronic treatment with 0.02 mg/kg nicotine potentiated fMLP-induced chemotaxis. Subchronic treatment with 0.2 mg/kg of the alkaloid blunted fMLP-induced chemotaxis, in contrast to the potentiating actions of the lower dose. Treatment with nicotine mimicked the effects of tobacco smoke exposure. A 15week exposure regimen to either sidestream and mainstream smoke from University of Kentucky 2R1 reference cigarettes potentiated PMA-induced superoxide anion generation. Mainstream but not sidestream smoke also enhanced chemotactic responses to fMLP. Viewed collectively, these observations indicate that in vivo exposure to nicotine or to tobacco smoke aug-*On leave from the

Research paper thumbnail of Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms

A genomewide linkage scan was carried out in eight clinical samples of informative schizophrenia ... more A genomewide linkage scan was carried out in eight clinical samples of informative schizophrenia families. After all quality control checks, the analysis of 707 European-ancestry families included 1,615 affected and 1,602 unaffected genotyped individuals, and the analysis of all 807 families included 1900 affected and 1839 unaffected individuals. Multipoint linkage analysis with correction for marker-marker linkage disequilibrium was carried out with 5,861 single nucleotide polymorphisms (SNPs; Illumina 4.0 linkage map). Suggestive evidence for linkage (European families) was observed on chromosomes 8p21, 8q24.1, 9q34 and 12q24.1 in non-parametric and/ or parametric analyses. In a logistic regression allele-sharing analysis of linkage allowing for intersite heterogeneity, genomewide significant evidence for linkage was observed on chromosome 10p12. Significant heterogeneity was also observed on chromosome 22q11.1.

Research paper thumbnail of Flavonoid glycosides and an anthraquinone from Rumex chalepensis

Phytochemistry, 1995

Besides rutin, quercetin 3-rhamnoside and kaempferol 3-rhamnosyl(1-, 6) galactoside, a new flavon... more Besides rutin, quercetin 3-rhamnoside and kaempferol 3-rhamnosyl(1-, 6) galactoside, a new flavonol glycoside, quercetin 3-glucosyl(1-, 4)galactoside, and 1,6,8-trihydroxy-3-methyl anthraquinone (emodin) have been characterized from leaves of Rumex chalepensis. The structures were established on the basis of Rf values, acid hydrolysis to aglycone and sugar and UV, E1 and FAB-mass spectra, tH NMR, ~3C DEPT NMR, NOE difference measurement, ~H-H COSY and 1H-13C COSY spectral data.

Research paper thumbnail of The atmosphere of heaven: The unnatural experiments of Dr. Beddoes and his sons of genius

At the Pneumatic Institution in Bristol, founded in the closing years of the eighteenth century, ... more At the Pneumatic Institution in Bristol, founded in the closing years of the eighteenth century, dramatic experiments with gases precipitated not only a revolution in scientific medicine but also in the history of ideas. Guided by the energy of maverick doctor Thomas Beddoes, the Institution was both laboratory and hospital - the first example of a modern medical research institution, but when its members discovered the mind-altering properties of nitrous oxide, or laughing gas, their experiments devolved into a pioneering exploration of consciousness with far-reaching and unforeseen effects.This riveting book is the first to tell the story of Dr. Beddoes and the brilliant circle who surrounded him: Erasmus Darwin, Samuel Taylor Coleridge, and Robert Southey, who supported his ideas; James Watt, who designed and built his laboratory; Thomas Wedgwood, who funded it; and, his dazzling young chemistry assistant, Humphry Davy, who identified nitrous oxide and tested it on himself, with spectacular results. Medical historian Mike Jay charts the chaotic rise and fall of the Institution in this fast-paced account, and reveals its crucial influence - on modern drug culture, attitudes toward objective and subjective knowledge, the development of anaesthetic surgery, and the birth of the Romantic movement.

Research paper thumbnail of Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1. 28

Retinitis pigmentosa (RP) is a group of retinal degenerations characterized by progressive visual... more Retinitis pigmentosa (RP) is a group of retinal degenerations characterized by progressive visual field loss, night blindness and pigmentary retinopathy 1. Its prevalence is in the region of 1− 2 in 5,000 of the general population, making it one of the commoner causes of ...

Research paper thumbnail of Localization of two genes for Usher syndrome type I to chromosome 11

Genomics, 1992

Richard JH Smith*, Corresponding Author Contact Information, Elizabeth C. Lee*, William J. Kimber... more Richard JH Smith*, Corresponding Author Contact Information, Elizabeth C. Lee*, William J. Kimberling†, Stephen P. Daiger‡, Mary Z. Pelias§ , Bronya JB Keats § , Marcelle Jay double vertical bar, Alan Bird double vertical bar, William Reardon f, Mary Guest¶, Radha ...

Research paper thumbnail of Retrograde spreading of hydrocortisone enema in inflammatory bowel disease

Digestive diseases and …, 1986

Radiolabeling of Enema. To 60 ml of an aqueous hydrocortisone enema (Cortenema | was added 50 ixC... more Radiolabeling of Enema. To 60 ml of an aqueous hydrocortisone enema (Cortenema | was added 50 ixCi of [99mTc]technetium sulfur colloid. This particular radiopharmaceutical was chosen because of its proximity in particle size (0.5-1.5 Ixm) to the size of the hydrocortisone particles (<10 txm) in the preparation.

Research paper thumbnail of The Control, environmental sustainability and information management of Maori land in New Zealand

… Education and Information, 1997

An increase in Maori land claims and the subsequent settlement of a number of land confiscation g... more An increase in Maori land claims and the subsequent settlement of a number of land confiscation grievances have prompted calls for change to the land management, cadastral and legal regimes in New Zealand. There is little expert agreement as to Me shape any such reforms should ...

Research paper thumbnail of Kaitiakitanga: protecting New Zealand's native biodiversity

Biologist, 2000

Species diversity is a very important component of a healthy ecosystem, and a necessary condition... more Species diversity is a very important component of a healthy ecosystem, and a necessary condition for long-term sustainable development. However, it is widely recognised that species extinction is on the increase in New Zealand, as biological diversity comes under pressure from landuse activity and environmental change. Despite an active official conservation programme, the indigenous biodiversity of New Zealand (and its major regional partner Australia) is under threat. As international experience elsewhere has shown, the restoration of biological heritage (in the form of biodiversity conservation) draws greatly on the commitment of local resource users and communities, rather than government intervention or planning regulations alone. Nevertheless, environmental planners can have an important role to play in this respect, because they are often experienced in mediating between the, somewhat incompatible, interests of conservationists, resource users and local communities. But, in order to be effective in this mediation role, planners have to consolidate their professional skill base with greater awareness of landscape ecology and species biology, and with more commitment to the involvement of indigenous Maori in the process.

Research paper thumbnail of Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site

Genomics, 1991

Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigm... more Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigmentosa (ADRP) have recently been described. We report four new rhodopsin mutations in ADRP families, initially identified as hetero-duplexed PCR fragments on hydrolink gels. One is an in-frame 12-bp deletion of codons 68 to 71. The other three are point mutations involving codons 190, 211, and 296. Each alters the amino acid encoded. The codon 190 mutation has been detected in 2 from a panel of 34 ADRP families, while the remaining mutations were seen in single families. This suggests that, consistent with a dominant condition, no single mutation will account for a large fraction of ADRP cases. The base substitution in codon 296 alters the lysine residue that functions as the attachment site for 11-cis-retinal, mutating it to glutamic acid. This mutation occurs in a family with an unusually severe phenotype, resulting in early onset of disease and cataracts in the third or fourth decade of life. This result demonstrates a correlation between the location of the mutation and the severity of phenotype in rhodopsin RP.

Research paper thumbnail of Initiation codon mutation of the tyrosinase gene as a cause of human albinism

Clinica chimica acta, 1994

Research paper thumbnail of Refractions of violence

... It was later refined at the gathering of contributors as -sembled by Jay Winter and Emmanuel ... more ... It was later refined at the gathering of contributors as -sembled by Jay Winter and Emmanuel Sivan in Chinchón, Spain for the volume on ... another, less serious moment in the German response to war, that occasioned by my participation in the founding of the Peace University in ...

Research paper thumbnail of Thyroid surgery and voice‐related outcomes

ANZ Journal of Surgery, 2001

We read with interest the aforementioned article by McIvor et al. 1 We have certain observations ... more We read with interest the aforementioned article by McIvor et al. 1 We have certain observations to make in this regard. (1) The authors mentioned timing for subjective voice analysis (not less than 2 months following surgery) but there was no mention of the time interval at which objective voice analysis was done. The authors reported that two patients who had recurrent laryngeal nerve (RLN) palsy recovered at 10 weeks and 20 weeks. Had they done the analysis at 6 months after operation the results could have been different. Can they recommend an optimal time at which such analysis should be undertaken? (2) The authors mentioned that they take care to avoid ligation of the external laryngeal nerve (ELN) but they did not clarify whether they routinely identify the RLN. This needs clarification because routine identification of the RLN has been shown to decrease nerve injury. 2 (3) Out of 50 cases, 25 underwent total thyroidectomy and the remainder underwent either subtotal or hemithyroidectomy. It would have been better to compare outcome of voice among these groups because the amount of dissection and risk to the RLN and ELN vary among these procedures. 3 The authors have proposed a good objective measure for patients undergoing thyroidectomy but, because the number of cases in their series was small, it is not possible to analyse the impact of various factors on voice-related outcome. Further controlled study may provide some definitive answers in this regard.

Research paper thumbnail of ARTICLES-INTERFACES: ADSORPTION, REACTIONS, FILMS, ASSEMBLIES, FORCES-Metal Sintering in Rh/Al2O3 Catalysts Followed by HREM, 1H NMR, and H2 Chemisorption

Research paper thumbnail of Molecular genetic approaches to the analysis of human ophthalmic disease

RJ : Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscu lar dy... more RJ : Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscu lar dystrophy, chronic granulomatous disease , retinitis pigmentosa, and McLeod syndrome. Am