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226 results on '"Mason, AL"'

1. No Difference in the Rates of Unplanned Return to the Operating Room Between Magnetically Controlled Growing Rods and Traditional Growth Friendly Surgery for Children With Cerebral Palsy

Author

Paul D. Sponseller, Mason Al Nouri, Margaret Man-Ger Sun, Jason J. Howard, Majella Vaughan, Tricia St. Hilaire, John T. Smith, Nicholas Buckler, Ron El-Hawary, and George H. Thompson

Subjects
Operating Rooms, medicine.medical_specialty, business.industry, Cerebral Palsy, Kyphosis, Implant failure, General Medicine, Scoliosis, Dehiscence, medicine.disease, Surgery, Cerebral palsy, Primary outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, medicine, Etiology, Humans, Orthopedics and Sports Medicine, Child, business, Retrospective Studies
Abstract

BACKGROUND Early-onset scoliosis (EOS) is common in children with cerebral palsy (CP). The effectiveness of magnetically controlled growing rods (MCGR) and the risk for unplanned return to the operating room (UPROR) remain to be studied in this patient population. The primary outcome of this study was to examine the frequency of UPROR between MCGRs as compared with traditional growth friendly (TGF) surgeries for children with EOS secondary to CP. METHODS Patients with EOS secondary to CP were prospectively identified from an international database, with data retrospectively analyzed. Scoliosis, kyphosis, T1-S1, and T1-T12 height were measured preoperation, immediate postoperation, and at minimum 2-year follow-up. The risk and etiology of UPRORs were compared between MCGR and TGF. RESULTS Of the 120 patients that met inclusion criteria, 86 received TGF (age 7.5±0. 1.8 y; mean follow-up 7.0±2.9 y) and 34 received MCGR (age 7.1±2.2 y, mean follow-up 2.8±0.0.5 y). Compared with TGF, MCGR resulted in significant improvements in maintenance of scoliosis (P=0.007). At final follow-up, UPRORs were 8 of 34 patients (24%) for MCGR and 37 of 86 patients (43%) for TGF (P=0.05). To minimize the influence of follow-up period, UPRORs within the first 2 years postoperation were evaluated: MCGR (7 of 34 patients, 21%) versus TGF (20 of 86 patients, 23%; P=0.75). Within the first 2 years, etiology of UPROR as a percentage of all patients per group were deep infection (13% TGF, 6% MCGR), implant failure/migration (12% TGF, 9% MCGR), dehiscence (4% TGF, 3% MCGR), and superficial infection (4% TGF, 3% MCGR). The most common etiology of UPROR for TGF was deep infection and for MCGR was implant failure/migration. CONCLUSION For patients with EOS secondary to CP, there was no difference in the risk of UPROR within the first 2 years postoperatively whether treated with TGF surgery or with MCGRs (23% TGF, 21% MCGR). LEVEL OF EVIDENCE Level III-retrospective cohort, therapeutic study.

Published
2021
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2. Adoption of Neural Networks to Classified the Gender of the Speaker

Author

Khalil Al-Saif and Mason Al-Nuaimi

Subjects
neural network, back propagation network, Mathematics, QA1-939, Electronic computers. Computer science, QA75.5-76.95
Abstract

In this research the neural network was adopted to classified the gender of the spoken, by creating the two dimension matrix from the parameters of the spoken speech signal which normal was snigle dimension array. The porpose algorithm in this research divided in two stage :- In the first stage the seven moment were calculated for a set of spoken signal of 50 persons , to be followed creating database depend on the seven moments .This database will be used to find the threshould value for both genders (male/female) which will be trained by neural network to classify any input tothe network. In the second stage , speech of any spoken will be selected and the same feature will be extracted , as in the first stage , to be used as input to the neural network which was traind previously for gender recognition. Back propagation neural network was achieved for recognition. The result of the applied algorithem on 10 spoken passed on 8 of them and 2 of them was failed .

Published
2010
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3. Number needed to treat with ursodeoxycholic acid therapy to prevent liver transplantation or death in primary biliary cholangitis

Author

Harms, Maren, de Veer, Rozanne, Lammers, Wim, Corpechot, C, Thorburn, D, Janssen, HL, Lindor, KD, Trivedi, PJ, Hirschfield, GM, Pares, A, Floreani, A, Mayo, MJ, Invernizzi, P, Battezzati, PM, Nevens, F, Ponsioen, CY, Mason, AL, Kowdley, KV, Hansen, BE, van Buuren, Henk, van der Meer, Adriaan, Harms, Maren, de Veer, Rozanne, Lammers, Wim, Corpechot, C, Thorburn, D, Janssen, HL, Lindor, KD, Trivedi, PJ, Hirschfield, GM, Pares, A, Floreani, A, Mayo, MJ, Invernizzi, P, Battezzati, PM, Nevens, F, Ponsioen, CY, Mason, AL, Kowdley, KV, Hansen, BE, van Buuren, Henk, and van der Meer, Adriaan

Published
2020

4. Serum gamma-glutamyltransferase is a prognostic biomarker in primary biliary cholangitis and improves risk stratification based on alkaline phosphatase

Author

Gerussi, A, Bernasconi, D, O'Donnell, S, Lammers, W, Van Buuren, H, Hirschfield, G, Janssen, H, Corpechot, C, Reig, A, Pares, A, Battezzati, P, Zuin, M, Cazzagon, N, Floreani, A, Nevens, F, Gatselis, N, Dalekos, G, Mayo, M, Thorburn, D, Bruns, T, Mason, A, Xavier, V, Kowdley, K, Invernizzi, P, Hansen, B, Carbone, M, O'donnell, SE, Lammers, WJ, Battezzati, PM, Zuin, MG, Mayo, MJ, Mason, AL, Gerussi, A, Bernasconi, D, O'Donnell, S, Lammers, W, Van Buuren, H, Hirschfield, G, Janssen, H, Corpechot, C, Reig, A, Pares, A, Battezzati, P, Zuin, M, Cazzagon, N, Floreani, A, Nevens, F, Gatselis, N, Dalekos, G, Mayo, M, Thorburn, D, Bruns, T, Mason, A, Xavier, V, Kowdley, K, Invernizzi, P, Hansen, B, Carbone, M, O'donnell, SE, Lammers, WJ, Battezzati, PM, Zuin, MG, Mayo, MJ, and Mason, AL

Published
2020

5. The impact of geographical region on outcomes of patients with primary biliary cholangitis from western Europe

Author

Perez, C, Gerussi, A, Trivedi, P, Corpechot, C, Van der Meer, A, Battezzati, P, Lindor, K, Nevens, F, Kowdley, K, Bruns, T, Floreani, A, Tanaka, A, Ma, X, Mason, A, Gulamhusein, A, Ponsioen, C, Carbone, M, Mayo, M, Lleo, A, Dalekos, G, Gatselis, N, Thorburn, D, Xavier, V, Pares, A, Janssen, H, Hirschfield, G, Hansen, B, Invernizzi, P, Lammers, W, Perez, CFM, Battezzati, PM, Lindor, KD, Kowdley, KV, Mason, AL, Mayo, MJ, Lammers, WJ, Perez, C, Gerussi, A, Trivedi, P, Corpechot, C, Van der Meer, A, Battezzati, P, Lindor, K, Nevens, F, Kowdley, K, Bruns, T, Floreani, A, Tanaka, A, Ma, X, Mason, A, Gulamhusein, A, Ponsioen, C, Carbone, M, Mayo, M, Lleo, A, Dalekos, G, Gatselis, N, Thorburn, D, Xavier, V, Pares, A, Janssen, H, Hirschfield, G, Hansen, B, Invernizzi, P, Lammers, W, Perez, CFM, Battezzati, PM, Lindor, KD, Kowdley, KV, Mason, AL, Mayo, MJ, and Lammers, WJ

Published
2020

6. Serum gamma-glutamyltransferase is a prognostic biomarker in primary biliary cholangitis and improves risk stratification based on the alkaline phosphatase

Author

Gerussi, A, Bernasconi, D, O'Donnell, S, Lammers, W, Van Buuren, H, Hirschfield, G, Janssen, H, Corpechot, C, Reig, A, Pares, A, Battezzati, P, Zuin, M, Cazzagon, N, Floreani, A, Nevens, F, Gatselis, N, Dalekos, G, Mayo, M, Thorburn, D, Bruns, T, Mason, A, Xavier, V, Kowdley, K, Invernizzi, P, Hansen, B, Carbone, M, O'Donnell, SE, Lammers, WJ, Battezzati, PM, Zuin, MG, Mayo, MJ, Mason, AL, Gerussi, A, Bernasconi, D, O'Donnell, S, Lammers, W, Van Buuren, H, Hirschfield, G, Janssen, H, Corpechot, C, Reig, A, Pares, A, Battezzati, P, Zuin, M, Cazzagon, N, Floreani, A, Nevens, F, Gatselis, N, Dalekos, G, Mayo, M, Thorburn, D, Bruns, T, Mason, A, Xavier, V, Kowdley, K, Invernizzi, P, Hansen, B, Carbone, M, O'Donnell, SE, Lammers, WJ, Battezzati, PM, Zuin, MG, Mayo, MJ, and Mason, AL

Published
2020

7. Fibrosis stage is an independent predictor of outcome in primary biliary cholangitis despite biochemical treatment response

Author

Murillo Perez, Fiorella, Hirschfield, GM, Corpechot, C, Floreani, A, Mayo, MJ, van der Meer, Adriaan, Ponsioen, CY, Lammers, Wim, Pares, A, Invernizzi, P, Carbone, M, Battezzati, PM, Nevens, F, Kowdley, KV, Thorburn, D, Mason, AL, Trivedi, PJ, Lindor, KD, Bruns, T, Dalekos, GN, Gatselis, NK, Verhelst, X, Janssen, HL, Hansen, BE, Gulamhusein, A, Grp, GPS, Gastroenterology and Hepatology, AGEM - Digestive immunity, AGEM - Endocrinology, metabolism and nutrition, Gastroenterology & Hepatology, Murillo Perez, C, Hirschfield, G, Corpechot, C, Floreani, A, Mayo, M, van der Meer, A, Ponsioen, C, Lammers, W, Pares, A, Invernizzi, P, Carbone, M, Maria Battezzati, P, Nevens, F, Kowdley, K, Thorburn, D, Mason, A, Trivedi, P, Lindor, K, Bruns, T, Dalekos, G, Gatselis, N, Verhelst, X, Janssen, H, Hansen, B, and Gulamhusein, A

Subjects
Adult, Liver Cirrhosis, Male, medicine.medical_specialty, Cirrhosis, Fibrosi, Biopsy, Context (language use), risk stratification, Chronic liver disease, Gastroenterology, Severity of Illness Index, Biomarkers, Pharmacological, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Liver Function Tests, MED/12 - GASTROENTEROLOGIA, Fibrosis, Predictive Value of Tests, Internal medicine, medicine, Humans, Pharmacology (medical), 030212 general & internal medicine, Primary Biliary Cholangiti, Stage (cooking), Hepatology, medicine.diagnostic_test, business.industry, Liver Cirrhosis, Biliary, Hazard ratio, Ursodeoxycholic Acid, Middle Aged, medicine.disease, Prognosis, Treatment Outcome, Liver, Liver biopsy, Disease Progression, 030211 gastroenterology & hepatology, Female, business, Liver function tests
Abstract

Background: Fibrosis stage predicts prognosis in patients with chronic liver disease independent of aetiology, although its precise role in risk stratification in patients with primary biliary cholangitis (PBC) remains undefined. Aim: To assess the utility of baseline fibrosis stage in predicting long‐term outcomes in the context of biochemical risk stratification Methods: In a large and globally representative cohort of patients with PBC, liver biopsies performed from 1980 to 2014 were evaluated. The predictive ability of histologic fibrosis stage in addition to treatment response at 1 year (Toronto/Paris‐II criteria), as well as non‐invasive markers of fibrosis (AST/ALT ratio [AAR], AST to platelet ratio index [APRI], FIB‐4), for transplant‐free survival was assessed with Cox proportional‐hazards models. Results: There were 1828 patients with baseline liver biopsy. Advanced histologic fi‐ brosis (stage 3/4) was an independent predictor of survival in addition to non‐invasive measures offibrosis with the hazard ratios ranging from 1.59 to 2.73 (P < .001). Patients with advanced histologic fibrosis stage had worse survival despite biochemical treat‐ ment response, with a 10‐year survival of 76.0%‐86.6% compared to 94.5%‐95.1% depending on the treatment response criteria used. Poor correlations were observed between non‐invasive measures of fibrosis and histologic fibrosis stage. Conclusion: Assessment of fibrosis stage grants prognostic value beyond biochem‐ ical treatment response at 1 year. This highlights the need to incorporate fibrosis stage in individual risk stratification in patients with PBC, partly to identify those that may derive benefit from novel therapies.

Published
2019

8. Treatment with MCGR Results in Improved Scoliosis Correction but No Difference in UPROR as Compared to Traditional Growth Friendly Surgery for Children with Cerebral Palsy

Author

Ron El-Hawary, Paul D. Sponseller, Majella Vaughan, Nicholas Buckler, Mason Al Nouri, Jason J. Howard, George H. Thompson, Margaret Man-Ger Sun, John T. Smith, and Tricia St. Hilaire

Subjects
medicine.medical_specialty, business.industry, Orthopedic surgery, medicine, Orthopedics and Sports Medicine, Scoliosis correction, medicine.disease, business, Surgery, Cerebral palsy
Published
2019
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9. Analysis of Health-Related Quality of Life in Cerebral Palsy Patients Treated with Growth-Friendly Surgery for Early-Onset Scoliosis

Author

Majella Vaughan, Paul D. Sponseller, Nicholas Buckler, Mason Al Nouri, Tricia St. Hilaire, Jason J. Howard, Ron El-Hawary, John T. Smith, Margaret Man-Ger Sun, Hiroko Matsumoto, and George H. Thompson

Subjects
Health related quality of life, medicine.medical_specialty, Pediatrics, business.industry, Orthopedic surgery, Medicine, Orthopedics and Sports Medicine, business, medicine.disease, Early onset scoliosis, Cerebral palsy
Published
2019
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10. Letters.

Author

Baxter, Dave, Clarke, Steve, Harrison, Giles, Letham, Robert, Jenkins, Rhys, Smith, Charles, Huckle, Andy, Sheldon, Mark, Hawke, Oliver, Mason, Al, Finlay, David, Harris, Graham, Wolfe, Richard, Spencer, Paul, Wellsteed, Geoff, Cadle, Richard, Weeks, Laurence, Payne, David, Driver, Jim, and Kirby, Andy

Published
2022

12. Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants

Author

Juran BD, Hirschfield GM, Invernizzi P, Atkinson EJ, Li Y, Xie G, Kosoy R, Ransom M, Sun Y, Bianchi I, Schlicht EM, Lleo A, Coltescu C, Bernuzzi F, Podda M, Lammert C, Shigeta R, Chan LL, Balschun T, Marconi M, Cusi D, Heathcote EJ, Mason AL, Myers RP, Milkiewicz P, Odin JA, Luketic VA, Bacon BR, Bodenheimer HC Jr, Liakina V, Vincent C, Levy C, Franke A, Gregersen PK, Bossa F, Gershwin ME, deAndrade M, Amos CI, Italian PBC Genetics Study Group, Lazaridis KN, Seldin MF, Siminovitch KA, Almasio PL, Alvaro D, Andriulli A, Barlassina C, Battezzati PM, Benedetti A, Bragazzi M, Brunetto M, Bruno S, Caliari L, Casella G, Civardi F, Coco B, Colli A, Colombo M, Colombo S, Cursaro C, Crocè LS, Crosignani A, Donato F, Fabris L, Ferrari C, Floreani A, Fontana R, Galli A, Grattagliano I, Lazzari R, Macaluso F, Malinverno F, Marra F, Marzioni M, Mascia E, Mattalia A, Montanari R, Morini L, Morisco F, Niro GA, Picciotto A, Portincasa P, Prati D, Rosina F, Rossi S, Selmi C, Spinzi G, Strazzabosco M, Tarallo S, Tiribelli C, Toniutto P, Vinci M, Zuin M., ANDREONE, PIETRO, MURATORI, LUIGI, MURATORI, PAOLO, Juran BD, Hirschfield GM, Invernizzi P, Atkinson EJ, Li Y, Xie G, Kosoy R, Ransom M, Sun Y, Bianchi I, Schlicht EM, Lleo A, Coltescu C, Bernuzzi F, Podda M, Lammert C, Shigeta R, Chan LL, Balschun T, Marconi M, Cusi D, Heathcote EJ, Mason AL, Myers RP, Milkiewicz P, Odin JA, Luketic VA, Bacon BR, Bodenheimer HC Jr, Liakina V, Vincent C, Levy C, Franke A, Gregersen PK, Bossa F, Gershwin ME, deAndrade M, Amos CI, Italian PBC Genetics Study Group, Lazaridis KN, Seldin MF, Siminovitch KA, Almasio PL, Alvaro D, Andreone P, Andriulli A, Barlassina C, Battezzati PM, Benedetti A, Bragazzi M, Brunetto M, Bruno S, Caliari L, Casella G, Civardi F, Coco B, Colli A, Colombo M, Colombo S, Cursaro C, Crocè LS, Crosignani A, Donato F, Fabris L, Ferrari C, Floreani A, Fontana R, Galli A, Grattagliano I, Lazzari R, Macaluso F, Malinverno F, Marra F, Marzioni M, Mascia E, Mattalia A, Montanari R, Morini L, Morisco F, Muratori L, Muratori P, Niro GA, Picciotto A, Portincasa P, Prati D, Rosina F, Rossi S, Selmi C, Spinzi G, Strazzabosco M, Tarallo S, Tiribelli C, Toniutto P, Vinci M, Zuin M., Juran, Bd, Hirschfield, Gm, Invernizzi, P, Atkinson, Ej, Li, Y, Xie, G, Kosoy, R, Ransom, M, Sun, Y, Bianchi, I, Schlicht, Em, Lleo, A, Coltescu, C, Bernuzzi, F, Podda, M, Lammert, C, Shigeta, R, Chan, Ll, Balschun, T, Marconi, M, Cusi, D, Heathcote, Ej, Mason, Al, Myers, Rp, Milkiewicz, P, Odin, Ja, Luketic, Va, Bacon, Br, Bodenheimer HC, Jr, Liakina, V, Vincent, C, Levy, C, Franke, A, Gregersen, Pk, Bossa, F, Gershwin, Me, Deandrade, M, Amos, Ci, Lazaridis, Kn, Seldin, Mf, Siminovitch, Ka, Morisco, Filomena, Italian PBC Genetics Study, Group, Juran, B, Hirschfield, G, Atkinson, E, Schlicht, E, Chan, L, Heathcote, E, Mason, A, Myers, R, Odin, J, Luketic, V, Bacon, B, Bodenheimer, H, Gregersen, P, Gershwin, M, Amos, C, Italian PBC Genetics Study, G, Lazaridis, K, Seldin, M, Siminovitch, K, Almasio, P, Alvaro, D, Andreone, P, Andriulli, A, Barlassina, C, Battezzati, P, Benedetti, A, Bragazzi, M, Brunetto, M, Bruno, S, Caliari, L, Casella, G, Civardi, F, Coco, B, Colli, A, Colombo, M, Colombo, S, Cursaro, C, Crocè, L, Crosignani, A, Donato, F, Fabris, L, Ferrari, C, Floreani, A, Fontana, R, Galli, A, Grattagliano, I, Lazzari, R, Macaluso, F, Malinverno, F, Marra, F, Marzioni, M, Mascia, E, Mattalia, A, Montanari, R, Morini, L, Morisco, F, Muratori, L, Muratori, P, Niro, G, Picciotto, A, Portincasa, P, Prati, D, Rosina, F, Rossi, S, Selmi, C, Spinzi, G, Strazzabosco, M, Tarallo, S, Tiribelli, C, Toniutto, P, Vinci, M, Zuin, M, Almasio, Pl, Battezzati, Pm, Croce', Saveria, Niro, Ga, Tiribelli, Claudio, and Zuin, M.

Subjects
MULTILOCUS GENOTYPE DATA, PRIMARY BILIARY CIRRHOSIS, PBC, 0302 clinical medicine, Gene Frequency, MED/12 - GASTROENTEROLOGIA, HLA Antigens, REGULATORY T-CELLS, RHEUMATOID-ARTHRITIS, VITAMIN-D, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Genetics, CLASSICAL HLA ALLELES, 0303 health sciences, Liver Cirrhosis, Biliary, PBC, HLA alleles, Association Studies Articles, CELIAC-DISEASE, General Medicine, GENOME-WIDE ASSOCIATION, SUSCEPTIBILITY LOCI, GENETIC RISK, 3. Good health, Chromosomes, Human, Pair 1, SINGLE NUCLEOTIDE POLYMORPHISMS, 030211 gastroenterology & hepatology, Chromosomes, Human, Pair 7, GENETIC ANALYSES, Genotype, Single-nucleotide polymorphism, Locus (genetics), Human leukocyte antigen, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Humans, SNP, Genetic Predisposition to Disease, Allele, Molecular Biology, Allele frequency, Alleles, 030304 developmental biology, Chromosomes, Human, Pair 13, Haplotype, Epistasis, Genetic, Genetic Loci, Case-Control Studies, Imputation (genetics)
Abstract

To further characterize the genetic basis of primary biliary cirrhosis (PBC), we genotyped 2426 PBC patients and 5731 unaffected controls from three independent cohorts using a single nucleotide polymorphism (SNP) array (Immunochip) enriched for autoimmune disease risk loci. Meta-analysis of the genotype data sets identified a novel disease-associated locus near the TNFSF11 gene at 13q14, provided evidence for association at six additional immune-related loci not previously implicated in PBC and confirmed associations at 19 of 22 established risk loci. Results of conditional analyses also provided evidence for multiple independent association signals at four risk loci, with haplotype analyses suggesting independent SNP effects at the 2q32 and 16p13 loci, but complex haplotype driven effects at the 3q25 and 6p21 loci. By imputing classical HLA alleles from this data set, four class II alleles independently contributing to the association signal from this region were identified. Imputation of genotypes at the non-HLA loci also provided additional associations, but none with stronger effects than the genotyped variants. An epistatic interaction between the IL12RB2 risk locus at 1p31and the IRF5 risk locus at 7q32 was also identified and suggests a complementary effect of these loci in predisposing to disease. These data expand the repertoire of genes with potential roles in PBC pathogenesis that need to be explored by follow-up biological studies.

Published
2012

13. International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

Author

Cordell, HJ, Han, Y, Mells, GF, Li, Y, Hirschfield, GM, Greene, CS, Xie, G, Juran, BD, Zhu, D, Qian, DC, Floyd, JAB, Morley, KI, Prati, D, Lleo, A, Cusi, D, Gershwin, ME, Anderson, CA, Lazaridis, KN, Invernizzi, P, Seldin, MF, Sandford, RN, Amos, CI, Siminovitch, KA, Schlicht, EM, Lammert, C, Atkinson, EJ, Chan, LL, De Andrade, M, Balschun, T, Mason, AL, Myers, RP, Zhang, J, Milkiewicz, P, Qu, J, Odin, JA, Luketic, VA, Bacon, BR, Bodenheimer, HC, Liakina, V, Vincent, C, Levy, C, Gregersen, PK, Almasio, PL, Alvaro, D, Andreone, P, Andriulli, A, Barlassina, C, Battezzati, PM, Benedetti, A, Bernuzzi, F, Bianchi, I, Bragazzi, MC, Brunetto, M, Bruno, S, Casella, G, Coco, B, Colli, A, Colombo, M, Colombo, S, Cursaro, C, Crocè, LS, Crosignani, A, Donato, MF, Elia, G, Fabris, L, Ferrari, C, Floreani, A, Foglieni, B, Fontana, R, Galli, A, Lazzari, R, Macaluso, F, Malinverno, F, Marra, F, Marzioni, M, Mattalia, A, Montanari, R, Morini, L, Morisco, F, Mousa Hani, S, Muratori, L, Muratori, P, Niro, GA, Palmieri, VO, Picciotto, A, Podda, M, Portincasa, P, Ronca, V, Rosina, F, Rossi, S, Sogno, I, Spinzi, G, and Spreafico, M

Subjects
MD Multidisciplinary
Abstract

© 2015 Macmillan Publishers Limited. All rights reserved.Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined

Published
2015

14. Witness to Northern Cardinal Parenting.

Author

Mason, Al

Subjects
PARENTS, BABY birds, GREENBUG, BABY foods, BIRDS of prey
Abstract

Highlights from the article: When I discovered a northern cardinal nest being built in a pyracantha (firethorn) bush just outside a window of my screened-in patio, I positioned my camera to capture a series of close-up photos that I thought might reveal the daily growth of a young cardinal. The male cardinal entered the scene with an abundance of morsels while the female was away from the nest. PHOTO (COLOR): Nest sanitation: Papa cardinal removes a fecal sac from the nest.

Published
2019

15. Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

Author

Juran, B, Hirschfield, G, Invernizzi, P, Atkinson, E, Li, Y, Xie, G, Kosoy, R, Ransom, M, Sun, Y, Bianchi, I, Schlicht, E, Lleo, A, Coltescu, C, Bernuzzi, F, Podda, M, Lammert, C, Shigeta, R, Chan, L, Balschun, T, Marconi, M, Cusi, D, Heathcote, E, Mason, A, Myers, R, Milkiewicz, P, Odin, J, Luketic, V, Bacon, B, Bodenheimer, H, Liakina, V, Vincent, C, Levy, C, Franke, A, Gregersen, P, Bossa, F, Gershwin, M, Deandrade, M, Amos, C, Italian PBC Genetics Study, G, Lazaridis, K, Seldin, M, Siminovitch, K, Almasio, P, Alvaro, D, Andreone, P, Andriulli, A, Barlassina, C, Battezzati, P, Benedetti, A, Bragazzi, M, Brunetto, M, Bruno, S, Caliari, L, Casella, G, Civardi, F, Coco, B, Colli, A, Colombo, M, Colombo, S, Cursaro, C, Crocè, L, Crosignani, A, Donato, F, Fabris, L, Ferrari, C, Floreani, A, Fontana, R, Galli, A, Grattagliano, I, Lazzari, R, Macaluso, F, Malinverno, F, Marra, F, Marzioni, M, Mascia, E, Mattalia, A, Montanari, R, Morini, L, Morisco, F, Muratori, L, Muratori, P, Niro, G, Picciotto, A, Portincasa, P, Prati, D, Rosina, F, Rossi, S, Selmi, C, Spinzi, G, Strazzabosco, M, Tarallo, S, Tiribelli, C, Toniutto, P, Vinci, M, Zuin, M, Juran, BD, Hirschfield, GM, INVERNIZZI, PIETRO, Atkinson, EJ, Schlicht, EM, Bernuzzi, Francesca Veronica, Chan, LL, Heathcote, EJ, Mason, AL, Myers, RP, Odin, JA, Luketic, VA, Bacon, BR, Bodenheimer, HC Jr, Gregersen, PK, Gershwin, ME, deAndrade, M, Amos, CI, Italian PBC Genetics Study Group, Lazaridis, KN, Seldin, MF, Siminovitch, KA, Almasio, PL, Battezzati, PM, Crocè, LS, Niro, GA, STRAZZABOSCO, MARIO, Zuin, M., Juran, B, Hirschfield, G, Invernizzi, P, Atkinson, E, Li, Y, Xie, G, Kosoy, R, Ransom, M, Sun, Y, Bianchi, I, Schlicht, E, Lleo, A, Coltescu, C, Bernuzzi, F, Podda, M, Lammert, C, Shigeta, R, Chan, L, Balschun, T, Marconi, M, Cusi, D, Heathcote, E, Mason, A, Myers, R, Milkiewicz, P, Odin, J, Luketic, V, Bacon, B, Bodenheimer, H, Liakina, V, Vincent, C, Levy, C, Franke, A, Gregersen, P, Bossa, F, Gershwin, M, Deandrade, M, Amos, C, Italian PBC Genetics Study, G, Lazaridis, K, Seldin, M, Siminovitch, K, Almasio, P, Alvaro, D, Andreone, P, Andriulli, A, Barlassina, C, Battezzati, P, Benedetti, A, Bragazzi, M, Brunetto, M, Bruno, S, Caliari, L, Casella, G, Civardi, F, Coco, B, Colli, A, Colombo, M, Colombo, S, Cursaro, C, Crocè, L, Crosignani, A, Donato, F, Fabris, L, Ferrari, C, Floreani, A, Fontana, R, Galli, A, Grattagliano, I, Lazzari, R, Macaluso, F, Malinverno, F, Marra, F, Marzioni, M, Mascia, E, Mattalia, A, Montanari, R, Morini, L, Morisco, F, Muratori, L, Muratori, P, Niro, G, Picciotto, A, Portincasa, P, Prati, D, Rosina, F, Rossi, S, Selmi, C, Spinzi, G, Strazzabosco, M, Tarallo, S, Tiribelli, C, Toniutto, P, Vinci, M, Zuin, M, Juran, BD, Hirschfield, GM, INVERNIZZI, PIETRO, Atkinson, EJ, Schlicht, EM, Bernuzzi, Francesca Veronica, Chan, LL, Heathcote, EJ, Mason, AL, Myers, RP, Odin, JA, Luketic, VA, Bacon, BR, Bodenheimer, HC Jr, Gregersen, PK, Gershwin, ME, deAndrade, M, Amos, CI, Italian PBC Genetics Study Group, Lazaridis, KN, Seldin, MF, Siminovitch, KA, Almasio, PL, Battezzati, PM, Crocè, LS, Niro, GA, STRAZZABOSCO, MARIO, and Zuin, M.

Abstract

To further characterize the genetic basis of primary biliary cirrhosis (PBC), we genotyped 2426 PBC patients and 5731 unaffected controls from three independent cohorts using a single nucleotide polymorphism (SNP) array (Immunochip) enriched for autoimmune disease risk loci. Meta-analysis of the genotype data sets identified a novel disease-associated locus near the TNFSF11 gene at 13q14, provided evidence for association at six additional immune-related loci not previously implicated in PBC and confirmed associations at 19 of 22 established risk loci. Results of conditional analyses also provided evidence for multiple independent association signals at four risk loci, with haplotype analyses suggesting independent SNP effects at the 2q32 and 16p13 loci, but complex haplotype driven effects at the 3q25 and 6p21 loci. By imputing classical HLA alleles from this data set, four class II alleles independently contributing to the association signal from this region were identified. Imputation of genotypes at the non-HLA loci also provided additional associations, but none with stronger effects than the genotyped variants. An epistatic interaction between the IL12RB2 risk locus at 1p31and the IRF5 risk locus at 7q32 was also identified and suggests a complementary effect of these loci in predisposing to disease. These data expand the repertoire of genes with potential roles in PBC pathogenesis that need to be explored by follow-up biological studies.

Published
2012

16. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis

Author

Liu, X, Invernizzi, P, Lu, Y, Kosoy, R, Bianchi, I, Podda, M, Xu, C, Xie, G, Macciardi, F, Selmi, C, Lupoli, S, Shigeta, R, Ransom, M, Lleo, A, Lee, A, Mason, A, Myers, R, Peltekian, K, Ghent, C, Bernuzzi, F, Zuin, M, Rosina, F, Borghesio, E, Floreani, A, Lazzari, R, Niro, G, Andriulli, A, Muratori, L, Muratori, P, Almasio, P, Andreone, P, Margotti, M, Brunetto, M, Coco, B, Alvaro, D, Bragazzi, M, Marra, F, Pisano, A, Rigamonti, C, Colombo, M, Marzioni, M, Benedetti, A, Fabris, L, Strazzabosco, M, Portincasa, P, Palmieri, V, Tiribelli, C, Croce, L, Bruno, S, Rossi, S, Vinci, M, Prisco, C, Mattalia, A, Toniutto, P, Picciotto, A, Galli, A, Ferrari, C, Colombo, S, Casella, G, Morini, L, Caporaso, N, Colli, A, Spinzi, G, Montanari, R, Gregersen, P, Heathcote, E, Hirschfield, G, Siminovitch, K, Amos, C, Gershwin, M, Seldin, M, INVERNIZZI, PIETRO, Lee, AT, Mason, AL, Myers, RP, Peltekian, KM, Ghent, CN, Bernuzzi, Francesca Veronica, Almasio, PL, Bragazzi, MC, STRAZZABOSCO, MARIO, Palmieri, VO, Gregersen, PK, Heathcote, EJ, Hirschfield, GM, Siminovitch, KA, Amos, CI, Gershwin, ME, Seldin, MF, Liu, X, Invernizzi, P, Lu, Y, Kosoy, R, Bianchi, I, Podda, M, Xu, C, Xie, G, Macciardi, F, Selmi, C, Lupoli, S, Shigeta, R, Ransom, M, Lleo, A, Lee, A, Mason, A, Myers, R, Peltekian, K, Ghent, C, Bernuzzi, F, Zuin, M, Rosina, F, Borghesio, E, Floreani, A, Lazzari, R, Niro, G, Andriulli, A, Muratori, L, Muratori, P, Almasio, P, Andreone, P, Margotti, M, Brunetto, M, Coco, B, Alvaro, D, Bragazzi, M, Marra, F, Pisano, A, Rigamonti, C, Colombo, M, Marzioni, M, Benedetti, A, Fabris, L, Strazzabosco, M, Portincasa, P, Palmieri, V, Tiribelli, C, Croce, L, Bruno, S, Rossi, S, Vinci, M, Prisco, C, Mattalia, A, Toniutto, P, Picciotto, A, Galli, A, Ferrari, C, Colombo, S, Casella, G, Morini, L, Caporaso, N, Colli, A, Spinzi, G, Montanari, R, Gregersen, P, Heathcote, E, Hirschfield, G, Siminovitch, K, Amos, C, Gershwin, M, Seldin, M, INVERNIZZI, PIETRO, Lee, AT, Mason, AL, Myers, RP, Peltekian, KM, Ghent, CN, Bernuzzi, Francesca Veronica, Almasio, PL, Bragazzi, MC, STRAZZABOSCO, MARIO, Palmieri, VO, Gregersen, PK, Heathcote, EJ, Hirschfield, GM, Siminovitch, KA, Amos, CI, Gershwin, ME, and Seldin, MF

Abstract

A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 × 10−11, odds ratio (OR) = 1.46), IRF5-TNPO3 (P = 2.8 × 10−10, OR = 1.63) and 17q12-21 (P = 1.7 × 10−10, OR = 1.38).

Published
2010

18. Letters.

Author

Johnson, Steve, White, Phil, Kalb, Nigel, Manger, Stuart, Mcpherson, Ian, Holmes, Mike, Riches, John, Berridge, Ken, Wood, Graham, Gee, Peter, Mason, Al, Allen, Dave, Harrison, Giles, Gallagher, Jim, Williams, Bill, Paine, Philip, and Spencer, Paul

Subjects
CRICKET competitions, CRICKET players
Published
2018

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