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51. Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation

Author

Wertheim-Tysarowska, K., primary, Ołdak, M., additional, Giza, A., additional, Kutkowska-Kaźmierczak, A., additional, Sota, J., additional, Przybylska, D., additional, Woźniak, K., additional, Śniegórska, D., additional, Niepokój, K., additional, Sobczyńska-Tomaszewska, A., additional, Rygiel, A. M., additional, Płoski, R., additional, Bal, J., additional, and Kowalewski, C., additional

Published
2015
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53. Wageningen koploper in viskweek

Author

Leenstra, S.H. and Bal, J.

Subjects
agrarisch onderwijs, viskwekerijen, aquaculture, aquacultuur, universitair onderzoek, university research, fish farms, ASG Facilities & Services (WU), visteelt, agricultural education, fish culture
Abstract

Honden, koeien, paarden, varkens én vissen. Wageningen UR staat bij het grote publiek bekend als landbouwuniversiteit, maar dit kennisinstituut voor Life Sciences is wereldwijd ook vooraanstaand in de viskweek. Sietze Leenstra (62) is al 32 jaar werkzaam bij De Haar Vissen, het ‘natte lab’ van de WUR. In dit artikel een portret van deze expert op het gebied van kweekvis en zijn werkomgeving.

Published
2009

54. Analyse van bestaande gegevensbestanden

Author

Kessel, N.T.J.M. van, Mensink, J., Bal, J., Vermeulen, M., Bal, J., and Vermeulen, M.

Subjects
organisatie en beleidsevaluatie [Onderwijs], Instituut Toegepaste Sociale Wetenschappen
Abstract

Item does not contain fulltext

Published
1996

55. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

Author

Groman, JD Hefferon, TW Casals, T Bassas, LS Estivill, X and Des Georges, M Guittard, C Koudova, M Fallin, MD and Nemeth, K Fekete, G Kadasi, L Friedman, K Schwarz, M and Bombieri, C Pignatti, PF Kanavakis, E Tzetis, M and Schwartz, M Novelli, G D'Apice, MR Sobczynska-Tomaszewska, A and Bal, J Stuhrmann, M Macek, M Claustres, M Cutting, GR

Abstract

An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator ( CFTR) gene is found in similar to 10% of individuals in the general population. When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. To test whether the number of TG repeats adjacent to 5T influences disease penetrance, we determined TG repeat number in 98 patients with male infertility due to congenital absence of the vas deferens, 9 patients with nonclassic CF, and 27 unaffected individuals ( fertile men). Each of the individuals in this study had a severe CFTR mutation on one CFTR gene and 5T on the other. Of the unaffected individuals, 78% ( 21 of 27) had 5T adjacent to 11 TG repeats, compared with 9% ( 10 of 107) of affected individuals. Conversely, 91% ( 97 of 107) of affected individuals had 12 or 13 TG repeats, versus only 22% ( 6 of 27) of unaffected individuals (P < .00001). Those individuals with 5T adjacent to either 12 or 13 TG repeats were substantially more likely to exhibit an abnormal phenotype than those with 5T adjacent to 11 TG repeats ( odds ratio 34.0, 95% CI 11.1 - 103.7, P < .00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles.

Published
2004

62. Low-dose inhaled carbon monoxide reduces pulmonary vascular resistance during acute hypoxemia in adult sheep

Author

Raú L A. Nachar, Aní Bal J. Llanos, Raquel A. Riquelme, Emilio A. Herrera, Emilia M. Sanhueza, Sergio Troncoso, and Carolina M. Pastene

Subjects
Male, Physiology, Hypertension, Pulmonary, Pharmacology, Hypoxemia, Nitric oxide, chemistry.chemical_compound, Administration, Inhalation, medicine, Animals, Cardiac Output, Hypoxia, Heme, Lung, Carbon Monoxide, Sheep, business.industry, Public Health, Environmental and Occupational Health, General Medicine, Hypoxia (medical), medicine.disease, Pulmonary hypertension, Heme oxygenase, medicine.anatomical_structure, chemistry, Carboxyhemoglobin, Anesthesia, Vascular resistance, Female, Vascular Resistance, medicine.symptom, Blood Gas Analysis, business
Abstract

Carbon monoxide (CO) is produced by the action of the heme oxygenase (HO) complex through the oxidation of heme. CO, like nitric oxide (NO), is a molecular gas that among other actions stimulates guanylyl cyclase and increases cGMP levels in smooth muscle cells, regulating the vascular tone. Acute hypoxia generates pulmonary hypertension and increases the expression of inducible HO isoform (HO-1) in the vascular endothelium. Inhaled NO causes a potent pulmonary vasodilation. We hypothesized that inhaled CO might produce similar actions as NO on pulmonary vascular resistance (PVR). To test our contention, we studied the effects of inhaled CO (40 ppm) in the augmented PVR observed during hypoxemia. Five chronically instrumented German Merino sheep were submitted to a protocol consisting of 20 min of normoxemia (N), 20 min of isocapnic hypoxemia (H20), 20 min of isocapnic hypoxemia plus CO 40 ppm (H40), and 20 min of recovery (R). In the control protocol, we did not administer inhaled CO. Arterial gases and pH, percentage of carboxyhemoglobin (COHb), systemic and pulmonary arterial pressure, systemic and pulmonary vascular resistance, and cardiac output were measured during each period. During H20 period, there was a significant increase in cardiac output and PVR in sheep submitted to both protocols. The sheep treated with inhaled CO (H40 + CO) showed a modest but significant decrease (16%) in the elevated PVR. Our data indicate that inhaled CO decreases pulmonary vascular resistance associated with acute hypoxemia in adult sheep.

Published
2001

63. Effect of Spacing on Canopy Microclimate, Vegetative Growth and Yield Attributes in Guava (Psidium guajava L.)

Author

Brar, J S, Dhaliwal, H S, Bal, J S, Dhillon, W S, Singh, Som Pal, Brar, J S, Dhaliwal, H S, Bal, J S, Dhillon, W S, and Singh, Som Pal

Abstract

The present investigation was conducted to examine the effect of spacing on variation in canopy microclimate, vegetative growth and yield attributes in guava (cv. Allahabad Safeda). Oservations revealed that with wide plant spacing (from 6x2m to 6x4m), interception of solar radiation increased significantly. Similarly, with increase in spacing between plants, mean canopy temperature was need to increase while relative humidity decreased. Plant growth in terms of stock and scion girth, tree spread (N-S) and canopy volume increased with wide plant spacing, while tree height decreased with increase in plant spacing. Number of fruits per plant, yield per plant and fruiting density was higher at 6x5m and least in 6x2m spacing. Wider plant spacing was found to be better owing to maximum absorption of solar radiation and optimum microclimate in the orchard leading to better yield in plants, higher fruiting density and yield efficiency. However, yield/ha was maximum in 6x2m spacing during rainy season and in 6x3m spacing during winter.

Published
2012

64. Antiretroviral treatment change among HIV, hepatitis B virus and hepatitis C virus co-infected patients in the Australian HIV Observational Database.

Author

Wood H., Watson K., Anderson J., Moore R., Russell D., McGovern G., McNair R., Lowe K., Bal J., Medland N., Mallal S., French M., Skett J., Moore C., Petoumenos K., Ringland C., Goodman R., Gotowski M., Couldwell D., Lewis L., Austin D., Block M., Quan D., Gowers A., Brown K., Skobalj N., O'Connor C., Mitchell M., Templeton D., Liang M.T., Allen D., Strazdinis B., Mulhall B., Mutimer K., Armishaw J., Cooper D., Carr A., Lacey M., Pell C., Rohrsheim R., Finlayson R., Richardson R., Ellis D., Baker D., Kidd J., McFarlane R., Vale R., Canavan P., Law M., Smith D., Huffam S., Savage J., Morgan S., Knibbs P., Rogers G., Markinson S., Sullivan C., Downey F., Curry M., Oddy J., Thompson J., Ree H., Magon H., Sowden D., Walker A., Orth D., Lister G., Youds D., Chuah J., James R., Frankhauser W., Dickson B., Bradford D., Leamy J., D'Arcy Evans C., Reid T., Laing J., Woolley I., Korman T., Padiglione A., Visvanathan K., Roth N., Eu B., Strecker S., Mijch A., Hoy J., Pierce A., McCormack C., Wood H., Watson K., Anderson J., Moore R., Russell D., McGovern G., McNair R., Lowe K., Bal J., Medland N., Mallal S., French M., Skett J., Moore C., Petoumenos K., Ringland C., Goodman R., Gotowski M., Couldwell D., Lewis L., Austin D., Block M., Quan D., Gowers A., Brown K., Skobalj N., O'Connor C., Mitchell M., Templeton D., Liang M.T., Allen D., Strazdinis B., Mulhall B., Mutimer K., Armishaw J., Cooper D., Carr A., Lacey M., Pell C., Rohrsheim R., Finlayson R., Richardson R., Ellis D., Baker D., Kidd J., McFarlane R., Vale R., Canavan P., Law M., Smith D., Huffam S., Savage J., Morgan S., Knibbs P., Rogers G., Markinson S., Sullivan C., Downey F., Curry M., Oddy J., Thompson J., Ree H., Magon H., Sowden D., Walker A., Orth D., Lister G., Youds D., Chuah J., James R., Frankhauser W., Dickson B., Bradford D., Leamy J., D'Arcy Evans C., Reid T., Laing J., Woolley I., Korman T., Padiglione A., Visvanathan K., Roth N., Eu B., Strecker S., Mijch A., Hoy J., Pierce A., and McCormack C.

Abstract

Objectives: To assess the impact of highly active antiretroviral therapy (HAART) on rates of change of antiretroviral treatment among patients co-infected with hepatitis B virus (HBV) and/or hepatitis C virus (HCV) in the Australian HIV Observational Database (AHOD). Method(s): Analysis was based on 805 of the 2218 patients recruited to the AHOD by March 2003, who had commenced HAART after 1 January 1997, who had recorded test results for HBV surface antigen and anti-HCV antibody, and who had follow-up of more than 3 months. The effect of hepatitis co-infection on the rate of antiretroviral treatment change after commencing HAART was assessed using a random-effect Poisson regression model. Result(s): Among those included in the analyses, the prevalences of HBV and HCV were 4.8% and 12.8%, respectively. The overall rate of combination antiretroviral treatment change was 0.74 combinations per year. Factors independently associated with an increased rate of change of combination antiretroviral treatment were: prior AIDS-defining illness; prior exposure to double combination antiretroviral therapy; and antiretroviral treatment class. Co-infection with HBV and/or HCV was not found to be significantly associated with the rate of combination antiretroviral treatment change. Conclusion(s): While both HBV and HCV co-infections are relatively common in the AHOD, they do not appear to be serious impediments to the treatment of HIV-infected patients. © 2005 British HIV Association.

Published
2012

65. V.I.S.S.E.N. : de parallelle wereld van de sportvisser en vis in beeld

Author

Bal, J. and Bal, J.

Abstract

Een zoektocht naar de sportvisser. Dat is de kern van de documentaire V.I.S.S.E.N. van de broers Maarten de Kroon en Pieter-Rim de Kroon. In deze film die op maandag 28 mei 2012 door de Avro wordt uitgezonden, gaan zij op zoek naar wat de sportvisser beweegt en laten ze de parallelle wereld zien van de visser en de vis in Nederland.

Published
2012

66. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Author

Dork, T Macek, M Mekus, F Tummler, B Tzountzouris, J and Casals, T Krebsova, A Koudova, M Sakmaryova, I Macek, M and Vavrova, V Zemkova, D Ginter, E Petrova, NV and Ivaschenko, T Baranov, V Witt, M Pogorzelski, A Bal, J and Zekanowsky, C Wagner, K Stuhrmann, M Bauer, I and Seydewitz, HH Neumann, T Jakubiczka, S Kraus, C Thamm, B and Nechiporenko, M Livshits, L Mosse, N Tsukerman, G and Kadasi, L Ravnik-Glavac, M Glavac, D Komel, R Vouk, K and Kucinskas, V Krumina, A Teder, M Kocheva, S Efremov, GD Onay, T Kirdar, B Malone, G Schwarz, M Zhou, ZQ and Friedman, KJ Carles, S Claustres, M Bozon, D and Verlingue, C Ferec, C Tzetis, M Kanavakis, E Cuppens, H and Bombieri, C Pignatti, PF Sangiuolo, F Jordanova, A and Kusic, J Radojkovic, D Sertic, J Richter, D Rukavina, AS and Bjorck, E Strandvik, B Cardoso, H Montgomery, M and Nakielna, B Hughes, D Estivill, X Aznarez, I Tullis, E and Tsui, LC Zielenski, J

Abstract

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz.. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2.3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2.3(21 kb) homozygotes and a comparison of compound heterozygotes for Delta F508/CFTRdele2,3(21 kb) with pairwise-matched Delta F508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%). Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype: XV-2c/KM. 19 “A” and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVSI7bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.

Published
2000

67. Characterization of a novel 21-kb deletion, CFTRdele2, 3(21kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Author

Doerk, T., Macek, M., Mekus, F., Tuemmler, B., Tzountzouris, J., Casals, T., Krebsova, A., Koudova, M., Sakmaryova, I., Vavrova, V., Zemkova, D., Ginter, E., Petrova, N.V., Ivaschenko, T., Baranov, V., Witt, M., Pogorzelski, A., Bal, J., Zekanowsky, C., Wagner, K., Stuhrmann, M., Bauer, I., Seydewitz, H.H., Neumann, T., Jakubiczka, S., and Sertić, Jadranka

Abstract

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz. a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2, 3(21 kb), deletes 21, 080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2, 3(21 kb) homozygotes and a comparison of compound heterozygotes for deltaF508/CFTRdele2, 3(21 kb) with pairwise-matched deltaF508 homozygotes indicate that this deleton represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM.19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVS17bCA) in all examined CFTRdele2, 3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.

Published
2000

68. Effect of Growth Regulator and Nutrients Spray on Control of Fruit Drop, Fruit Size and Quality of Ber under Sub-Montane Zone of Punjab

Author

Gill, P P S, Bal, J S, Gill, P P S, and Bal, J S

Abstract

The effect of foliar spray of plant growth regulators and nutrients on fruit drop, fruit size and quality was studied in ber cv Sanuar-2 at Krishi Vigyan Kendra, Hoshiarpur, Punjab Agricultural University, Ludhiana, during 2005-2006. Plants were sprayed with NAA (20, 30 or 40 ppm), KNO3 (0.5, 1.0 or 1.5%) and ZnSO43333b (1.5%).

Published
2009

69. ‘Iedereen wist dat het systeem niet goed functioneerde’ : voormalig AID-medewerker schrijft boek over visserijcontroles in de roerige jaren ’80

Author

Bal, J. and Bal, J.

Abstract

Visserijcontroles die voorspelbaar, ruimtelijk slecht gespreid en dus niet effectief zijn. Het tweeslachtige beleid van het Ministerie van Landbouw en Visserij en de daaruit voortvloeiende werkwijze van de Algemene Inspectie Dienst (AID) bood beroepsvissers in de jaren '80 alle ruimte om een dubbele boekhouding te voeren en de regels te ontduiken. Chantal van Dam werkte indertijd bij de controledienst en schreef een boek over haar ervaringen

Published
2009

70. Wageningen koploper in viskweek

Author

Bal, J. and Bal, J.

Abstract

Honden, koeien, paarden, varkens én vissen. Wageningen UR staat bij het grote publiek bekend als landbouwuniversiteit, maar dit kennisinstituut voor Life Sciences is wereldwijd ook vooraanstaand in de viskweek. Sietze Leenstra (62) is al 32 jaar werkzaam bij De Haar Vissen, het ‘natte lab’ van de WUR. In dit artikel een portret van deze expert op het gebied van kweekvis en zijn werkomgeving.

Published
2009

71. Duurzame vrijbuiters

Author

Bal, J. and Bal, J.

Abstract

De steeds verder oprukkende modernisering en efficiëntie in de visserijsector put de zeeën uit. Dat het ook anders kan bewijzen Jan Geertsema en Barbara Rodenburg met hun duurzame visserscollectief de Goede Vissers. Zij vissen in de Waddenzee op ambachtelijke wijze op harder en zeebaars. Begin oktober 2009 werd er 2 dagen op de TS31 meegevaren voor een reportage

Published
2009

74. Amsterdam vol met vis

Author

Bal, J. and Bal, J.

Abstract

De gemiddelde Amsterdammer zal het waarschijnlijk niet beseffen, maar hij woont temidden van een uitgestrekte en bloeiende natuur. Het water in de grachten, vaarten, kanalen, havens en het IJ herbergt namelijk een groot en dynamisch ecosysteem. Stadsecoloog Martin Melchers dompelt ons onder in het Amsterdamse water

Published
2008

75. 'Er wordt veel onzin verkondigd over de visstand'

Author

Bal, J. and Bal, J.

Abstract

Eigenwijs, tegendraads en spraakmakend. Dolf Boddeke (74) schuwde tijdens zijn 36 jaar lange carrière als visserijbioloog bij het RIVO (Rijksinstituut voor Visserijkundig Onderzoek; het tegenwoordige Imares) niet om een eigen en afwijkend geluid te laten horen. Ook in zijn onlangs verschenen boek ‘De wereld is een wonder’ zet hij in het verslag van een reis door zijn leven en passant nog even wat zaken recht. “Iedereen is zo ongelofelijk slecht geïnformeerd.”

Published
2008

80. GJB2 mutations and degree of hearing loss: a multicenter study.

Author

Snoeckx, R.L., Huygen, P.L.M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A.R., Nekahm-Heis, D., Seeman, P., Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.H., Sart, D. du, Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., Castillo, I. del, Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Maldergem, L. van, Hilbert, P., Roux, A.F., Mondain, M., Hoefsloot, L.H., Cremers, C.W.R.J., Lopponen, T., Lopponen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Heyning, P. van de, Nishimura, C.J., Smith, R.J.H., Camp, G. van, Snoeckx, R.L., Huygen, P.L.M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A.R., Nekahm-Heis, D., Seeman, P., Bendova, O., Kenna, M.A., Frangulov, A., Rehm, H.L., Tekin, M., Incesulu, A., Dahl, H.H., Sart, D. du, Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K.B., Brownstein, Z., Castillo, I. del, Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P.M., Cohn, E.S., Maldergem, L. van, Hilbert, P., Roux, A.F., Mondain, M., Hoefsloot, L.H., Cremers, C.W.R.J., Lopponen, T., Lopponen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Heyning, P. van de, Nishimura, C.J., Smith, R.J.H., and Camp, G. van

Abstract

Contains fulltext : 47828.pdf (publisher's version ) (Closed access), Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (P<.0001). The HI of 48 different genotypes was less severe than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes.

Published
2005

90. No Evidence for Segregation Distortion of Cystic Fibrosis Alleles among Sibs of Cystic Fibrosis Patients

Author

Devoto, M, Romeo, G, ten Kate, L P, Chevalier, F, Bozon, D, Estivill, X, Casals, T, Abeliovich, D, Lerer, I, Padoan, R, Seia, M, Hill, A, Liechtigallati, S, Kramer, R, Beards, F, DEAR, S, DALLAPICCOLA, B, SANGIUOLO, F, MACEK, M, MCMAHON, R, CONNARTY, M, HARVEY, JF, CLAUSTRES, M, DESGEORGES, M, de Vries, R, Scheffer, H, CANKIKLAIN, N, AUDREZET, MP, BIENVENU, T, CHOMEL, JC, DZIADEK, [No Value], TUMMLER, B, SCHWARZ, M, HAWORTH, A, BENITEZ, J, MAZURCZAK, T, BAL, J, CREMONESI, L, RONCHETTO, P, CASHMAN, SM, FEREC, C, CUPPENS, H, Bauer, I, ANGELICHEVA, D, WAGNER, K, PACHECO, P, BONIZZATO, A, MCMAHON, CJ, RAVNIKGLAVAC, M, REIS, A, STUHRMANN, M, GARNERONE, S, CURTIS, A, GRUNING, G, KANAVAKIS, E, KLAASSEN, T, GRADE, T, and Witt, Michal

Subjects
Pathology, medicine.medical_specialty, business.industry, Distortion, Genetics, medicine, Allele, medicine.disease, business, Cystic fibrosis, Genetics (clinical)
Published
1995

95. A novel de novo CFTR mutation in a Polish CF patient

Author

Norek, A.K., primary, Stremska, M., additional, Sobczynska-Tomaszewska, A., additional, Milewski, M., additional, Dmenska, H., additional, Sands, D., additional, Jurek, M., additional, Czerska, K., additional, Wertheim-Tysarowska, K., additional, and Bal, J., additional

Published
2010
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98. Rates of combination antiretroviral treatment change in Australia, 1997-2000

Author

Petoumenos, K., Austin, D., Baker, D., Block, M., Brown, K., Carr, A., Cooper, D., Couldwell, D., Ellis, D., Finlayson, R., Gorton, C., Gowers, A., Keeffe, N., Kidd, J., Law, M., Liang, M.T., McFarlane, R., Mutimer, K., Miller, J., O'Connor, C., Quan, D., Rooney, P., Taylor, S., Smith, D., Wheatley, D., Knibbs, P., Huffam, S., Morgan, S., Savage, J., Bradford, D., Chuah, J., Dickson, B., Fankhauser, W., Lister, G., Magon, H., Orth, D., Rawlinson, M., Ree, H., Sowden, D., Walker, A., Wilson, C., Anderson, J., Bal, J., Daye, J., Eu, B., Fairely, C.K., Hoy, J., McCormack, C., McGovern, G., McNair, R., Medland, N., Mijch, A., Moore, R., Pierce, A., Roth, N., Russell, D., Strecker, S., Watson, K., Wood, H., Cain, A., French, M., Mallal, S., Maxwell, D., Moore, C., Skett, J., Petoumenos, K., Austin, D., Baker, D., Block, M., Brown, K., Carr, A., Cooper, D., Couldwell, D., Ellis, D., Finlayson, R., Gorton, C., Gowers, A., Keeffe, N., Kidd, J., Law, M., Liang, M.T., McFarlane, R., Mutimer, K., Miller, J., O'Connor, C., Quan, D., Rooney, P., Taylor, S., Smith, D., Wheatley, D., Knibbs, P., Huffam, S., Morgan, S., Savage, J., Bradford, D., Chuah, J., Dickson, B., Fankhauser, W., Lister, G., Magon, H., Orth, D., Rawlinson, M., Ree, H., Sowden, D., Walker, A., Wilson, C., Anderson, J., Bal, J., Daye, J., Eu, B., Fairely, C.K., Hoy, J., McCormack, C., McGovern, G., McNair, R., Medland, N., Mijch, A., Moore, R., Pierce, A., Roth, N., Russell, D., Strecker, S., Watson, K., Wood, H., Cain, A., French, M., Mallal, S., Maxwell, D., Moore, C., and Skett, J.

Abstract

OBJECTIVE To estimate the rate of combination antiretroviral treatment change and factors associated with combination antiretroviral treatment change among patients recruited in the Australian HIV Observational Database (AHOD). METHODS Analyses were based on patients in the AHOD who had commenced combination antiretroviral treatment after 1 January 1997. Combination antiretroviral treatment change was defined as the addition or change of at least one antiretroviral drug. A random-effect Poisson regression model was used to assess factors associated with increased rates of combination antiretroviral treatment change. RESULTS A total of 596 patients in the AHOD were included in the analysis, with a median follow-up of 2.3 years. The overall rate of antiretroviral treatment change in this group was 0.45 combinations per year. In a multivariate analysis, a low CD4 count (< 200 cells/microL) at baseline was associated with an increased rate of treatment change [rate ratio (RR)=1.43; 95% confidence interval (CI), 1.13, 1.80; P=0.003)]. Combinations including a nonnucleoside reverse transcriptase inhibitor were also associated with slower rates of change than treatment combinations including a protease inhibitor (RR=0.64, 95% CI, 0.51, 0.80, P < 0.001). CONCLUSION Initiating combination antiretroviral at a CD4 cell count < 200 cells/microL may be associated with poorer patient outcomes. However, the possibility that clinician or patient concerns about low immunological status led to faster rates of treatment change in this group cannot be discounted.

Published
2002

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