77 results on '"G. Peloso"'
Search Results
2. Comparison of the racing performance of Thoroughbreds with versus without osteochondral fragmentation of the accessory carpal bone identified on yearling sales repository radiographs
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George E. Moore, James P. Morehead, Jan F. Hawkins, John G. Peloso, and Alec J. Davern
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Male ,Radiography ,Dentistry ,Osteoarthritis ,Running ,Cohort Studies ,Fractures, Bone ,Matched cohort ,medicine ,Animals ,Clinical significance ,Horses ,Carpal Bones ,Retrospective Studies ,General Veterinary ,business.industry ,Incidence (epidemiology) ,Retrospective cohort study ,medicine.disease ,Carpal bones ,medicine.anatomical_structure ,Female ,Horse Diseases ,business ,Cohort study - Abstract
OBJECTIVE To evaluate 2- and 3-year-old and career race performance of Thoroughbred racehorse prospects with and without osteochondral fragmentation of the accessory carpal bone (ACB) identified on yearling presale radiographs. DESIGN Retrospective, matched cohort study. ANIMALS 47 nonlame Thoroughbreds with (exposed cohort) and 94 nonlame Thoroughbreds without (unexposed cohort) osteochondral fragmentation of ACB facture identified on yearling sales repository radiographs. PROCEDURES Repository radiographic interpretation reports for September yearling sales of a large Kentucky auction house from 2005 through 2012 were reviewed, and race records were collected and analyzed. Race performance was compared between horses with and without ACB fracture chosen from the same sale to identify associations between racing performance and ACB fracture. RESULTS No significant differences were identified between horses with or without ACB fracture in their incidence of starting a race as a 2- or 3-year-old and the number of races started, earnings, or earnings per start for 2- or 3-year-old or career race performance. There was no significant difference in performance between horses with or without concurrent carpal osteoarthritis, nor did performance differ between horses with ACB fracture alone and those with ACB fracture and other radiographic abnormalities found to be associated with poorer performance in previous studies. CONCLUSIONS AND CLINICAL RELEVANCE ACB fracture with or without carpal osteoarthritic changes identified on repository radiographs of Thoroughbred yearlings was not associated with poorer racing performance or lower likelihood of starting a race as a 2- or 3-year-old, compared with outcomes for unaffected horses.
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- 2019
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3. Association of catastrophic condylar fracture with bony changes of the third metacarpal bone identified by use of standing magnetic resonance imaging in forelimbs from cadavers of Thoroughbred racehorses in the United States
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Lynn Hilt, John G. Peloso, Noah D. Cohen, Patricia A Marquis, and James B Vogler
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040301 veterinary sciences ,Inversion recovery ,Condyle ,0403 veterinary science ,Fractures, Bone ,Cadaver ,Forelimb ,medicine ,Animals ,Horses ,General Veterinary ,medicine.diagnostic_test ,business.industry ,Significant difference ,0402 animal and dairy science ,Magnetic resonance imaging ,04 agricultural and veterinary sciences ,General Medicine ,Anatomy ,Metacarpal Bones ,Magnetic Resonance Imaging ,040201 dairy & animal science ,United States ,body regions ,medicine.anatomical_structure ,Third metacarpal bone ,Horse Diseases ,business ,Bone volume - Abstract
OBJECTIVE To compare bony changes of the third metacarpal bone (MC3) of Thoroughbred racehorse cadavers with (cases) or without (controls) catastrophic condylar fracture by use of standing MRI. SAMPLE 140 forelimbs from 26 case horses (both forelimbs) and 88 control horses (single forelimb). PROCEDURES Bone marrow lesions (BMLs), identified as a decrease in T1-weighted (T1W) signal and increases in T2*-weighted (T2*W) and short tau inversion recovery (STIR) signals, and dense bone volume percentage (DBVP), identified as decreases in T1W, T2*W, and STIR signals, in the distopalmar aspect of MC3 were recorded. Logistic regression was used to compare fractured and nonfractured limbs of cases and fractured limbs of cases with randomly selected limbs of controls. RESULTS Among cases, fractured limbs were significantly more likely to have BMLs (26/26 [100%]) than were nonfractured limbs (7/26 [27%]). Fractured limbs of cases were significantly more likely to have BMLs (26/26 [100%]) than were limbs of controls (6/88 [7%]). Among cases, there was no significant difference in DBVP between fractured and nonfractured limbs in lateral (26% vs 21%, respectively) or medial (25% vs 20%, respectively) condyles. However, DBVP was significantly greater in fractured limbs of cases than in limbs of controls for lateral (26% vs 16%, respectively) and medial (25% vs 18%, respectively) condyles. CONCLUSIONS AND CLINICAL RELEVANCE Standing MRI revealed a significantly greater degree of bone change in racehorses with condylar fracture when comparing fractured and nonfractured limbs of case horses and fractured limbs of case horses with randomly selected limbs of control horses.
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- 2019
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4. Novel Models of Myxoid Liposarcoma Xenografts Mimicking the Biological and Pharmacologic Features of Human Tumors
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Juan Carlos Tercero, Roberta Frapolli, Sergio Marchini, Ezia Bello, Paolo G. Casali, Maurizio D'Incalci, G. Peloso, Roberta Sanfilippo, Eva Tarantino, Emanuela Virdis, Silvana Pilotti, Federica Grosso, Alessandro Gronchi, and Elena Tamborini
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Adult ,Male ,Cancer Research ,Pathology ,medicine.medical_specialty ,Transplantation, Heterologous ,Mice, Nude ,Cell Growth Processes ,Dioxoles ,Liposarcoma ,Fusion gene ,Mice ,Tetrahydroisoquinolines ,medicine ,Animals ,Humans ,Antineoplastic Agents, Alkylating ,In Situ Hybridization, Fluorescence ,Trabectedin ,Aged ,Aged, 80 and over ,Myxoid liposarcoma ,medicine.diagnostic_test ,Reverse Transcriptase Polymerase Chain Reaction ,business.industry ,Soft tissue sarcoma ,Cancer ,Middle Aged ,medicine.disease ,Liposarcoma, Myxoid ,body regions ,Transplantation ,Oncology ,Female ,business ,Neoplasm Transplantation ,medicine.drug ,Fluorescence in situ hybridization - Abstract
Purpose: Myxoid liposarcoma is a common subtype of liposarcoma. It is associated in more than 90% of cases with the chromosomal translocation t(12;16)(q13;p11) leading to the fusion FUS-CHOP gene that is responsible for the oncogenic transformation of preadipocytes. Recently the marine natural product trabectedin has shown highly selective activity for myxoid liposarcoma, even in the most aggressive round-cell subtype. Experimental Design: Fragments of 17 sarcomas were transplanted s.c. in female athymic NCr-nu/nu mice. Xenografts were established and characterized by morphology, fluorescence in situ hybridization analysis for the translocation and reverse transcriptase-PCR analysis for fusion transcripts. Trabectedin was injected i.v. Results: Seven of 17 tumors grew as continuous xenografts, five of them being myxoid liposarcoma of the round-cell subtype. The chromosomal rearrangement and fusion transcripts in different passages were the same as in the human tumors from which they were derived. The responsiveness to trabectedin in type II myxoid liposarcoma xenografts was as high as in patients. The pathologic response was associated with the presence of the FUS-CHOP fusion gene, indicating that the drug does not totally eradicate the disease. Type III myxoid liposarcoma xenografts seemed much less sensitive to trabectedin, confirming previous clinical observations. Conclusions: This study reports for the first time the characterization of human myxoid liposarcoma xenografts that adequately mimic the biological and pharmacologic features of the human tumor. These models offer a useful tool for investigating the mechanism of selectivity of trabectedin, testing new combinations with this drug and evaluating novel therapies for myxoid liposarcoma. Clin Cancer Res; 16(20); 4958–67. ©2010 AACR.
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- 2010
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5. Association of catastrophic biaxial fracture of the proximal sesamoid bones with bony changes of the metacarpophalangeal joint identified by standing magnetic resonance imaging in cadaveric forelimbs of Thoroughbred racehorses
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Lynn Hilt, Noah D. Cohen, John G. Peloso, Patricia A Marquis, and James B Vogler
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Radiography ,Bone pathology ,Running ,Fractures, Bone ,Cadaver ,Euthanasia, Animal ,Forelimb ,medicine ,medicine.bone ,Animals ,Horses ,General Veterinary ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,Anatomy ,Metacarpophalangeal joint ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,Case-Control Studies ,Sesamoid bone ,Third metacarpal bone ,Horse Diseases ,Bone Remodeling ,Metacarpus ,Sesamoid Bones ,business ,Cadaveric spasm - Abstract
Objective—To compare bony changes in the metacarpophalangeal joint (MCPJ) of racehorses with (cases) and without (controls) biaxial proximal sesamoid bone (PSB) fracture as determined by 2 grading scales applied to images of cadaveric forelimbs obtained by means of standing MRI (sMRI). Design—Case-control study. Sample—Forelimbs from 74 Thoroughbred racehorses (21 cases and 53 controls) that were euthanized at a Florida racetrack. Procedures—Both forelimbs were harvested from cases and controls. Each forelimb underwent sMRI to obtain images of the MCPJ. Two grading scales were described and used for image evaluation; one assessed the density of the PSBs, and the other assessed the integrity of the subchondral bone (SCB) plate at the distopalmar aspect of the third metacarpal bone (MC3). Logistic regression was used to compare the grades between case and control limbs. Results—Biaxial PSB fracture was associated with a total PSB grade (sum of lateral and medial PSB grades) ≥ 5 for the fractured limb, total MC3 SCB grade (sum of lateral and medial MC3 SCB grades) ≥ 5 for the contralateral limb, and the presence of orthopedic disease in the contralateral MC3. Conclusions and Clinical Relevance—For cases with biaxial PSB fracture, the density of the PSBs in the affected limb was greater and the MC3 of the contralateral limb was more likely to have orthopedic disease, compared with those for controls. Further evaluation of sMRI as a screening tool for identification of racehorses at risk of biaxial PSB fracture is warranted. (J Am Vet Med Assoc 2015;246:661–673)
- Published
- 2015
6. Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T
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Chiara Turchi, Adriano Tagliabracci, Carlo Robino, Pierangela Grignani, G. Peloso, Eugenia Carnevali, Ilaria Boschi, Carlo Previderè, Susi Pelotti, Alessandro Achilli, Milena Alù, Ugo Ricci, P. Grignani, C. Turchi, A. Achillic, G. Peloso, M. Alùe, U. Ricci, C. Robino, S. Pelotti, E. Carnevali, I. Boschi, and A. Tagliabracci and C. Previderè
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Mitochondrial DNA ,HVII ,SNP ,Single-nucleotide polymorphism ,Biology ,DNA, Mitochondrial ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,Haplogroup ,Pathology and Forensic Medicine ,SEQUENCING ,mtDNA ,HVS ,SNaPshot minisequencing ,Multiplex polymerase chain reaction ,Genetics ,Coding region ,Humans ,Multiplex ,Phylogeny ,Subclade ,Sequence Analysis, DNA ,Haplotypes ,Italy ,HVI ,HAPLOGROUP ,MITOCHONDRIAL DNA - Abstract
Mitochondrial DNA (mtDNA) U/K and J/T are sister haplogroups within the superhaplogroup R. They are both common in Europe, with a combined overall frequency similar to the one reported for H, the most common European haplogroup (40–50%). In this study, we selected 159 Italian subjects, already ascribed to U/K and J/T by RFLP typing, and assigned each mtDNA to specific clades/subclades by investigating at least one diagnostic coding region SNP. For each sister haplogroup, one multiplex PCR and one SNaPshot minisequencing reaction were set up targeting 16 U/K and 7 J/T coding region SNPs. Each mtDNA sample was clearly assigned to a specific subclade, which could be further subdivided into several minor sub-branches according to peculiar HVS I/II motifs. Such a molecular dissection of haplogroups U/K and J/T could be extremely useful to reduce the overall analysis time and labor intensive sequencing procedures in high volume forensic casework, for example when it is important to rapidly exclude samples in order to restrict the number of suspects.
- Published
- 2009
7. Endoscopic assessment of airway function as a predictor of racing performance in Thoroughbred yearlings: 427 cases (1997–2000)
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John A. Stick, Sue Eberhart, James W. Lloyd, Frederik J. Derksen, Pawin Padungtod, James P. Morehead, and John G. Peloso
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Male ,medicine.medical_specialty ,Laryngoscopy ,General Veterinary ,business.industry ,Movement ,Medical record ,Videotape Recording ,Arytenoid cartilage ,Left arytenoid cartilage ,Running ,Surgery ,medicine.anatomical_structure ,Physical Conditioning, Animal ,medicine ,Physical therapy ,Animals ,Female ,Horses ,business ,Airway ,Grading scale ,Arytenoid Cartilage ,Retrospective Studies ,Sports - Abstract
Objective—To compare endoscopic findings of the upper portion of the respiratory tract in Thoroughbred yearlings with their subsequent race records to determine whether subjective assessment of airway function may be used as a predictor of future racing performance. Design—Retrospective study. Animals—427 Thoroughbred yearlings. Procedures—Endoscopic examination findings were obtained from the medical records and the videoendoscopic repository of the Keeneland 1996 September yearling sales. Racing records were requested for the yearlings through the end of their 4-year-old racing season (1997–2000). Twenty-nine measures of racing performance were correlated with endoscopic findings. Subjective arytenoid cartilage movement grades were determined, using a 4-point grading scale (grade 1 = symmetrical synchronous abduction of the arytenoid cartilages; grade 4 = no substantial movement of the left arytenoid cartilage). Results—Of the 427 Thoroughbred yearlings included in this study, 364 established race records, and 63 did not. Opinions regarding suitability for purchase, meeting conditions of the sale, and the presence of epiglottic abnormalities had no significant association with racing performance. Arytenoid cartilage movement grades were significantly associated with many of the dependent variables. However, palatine abnormalities were not predictive of inferior racing performance. Conclusions and Clinical Relevance—Thoroughbred yearlings with grade-1 and -2 arytenoid cartilage movements had significantly better racing performance as adults, compared with yearlings with grade- 3 arytenoid cartilage movements. In contrast, epiglottic and palatine abnormalities were not predictive of inferior racing performance. Therefore, evaluation of laryngeal function, but not epiglottic or palatine abnormalities, using the 4-point grading system, should be the major factor in developing recommendations for prospective buyers. (J Am Vet Med Assoc 2001;219: xxx–xxx)
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- 2001
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8. Association of high-speed exercise with racing injury in Thoroughbreds
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Scott M. Berry, Ian C. Howard, John G. Peloso, Noah D. Cohen, and G D Mundy
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medicine.medical_specialty ,Time Factors ,General Veterinary ,business.industry ,Age Factors ,Kentucky ,medicine.disease ,Running ,Risk Factors ,Case-Control Studies ,Physical Conditioning, Animal ,Multivariate Analysis ,Confidence Intervals ,Odds Ratio ,Musculoskeletal injury ,medicine ,Physical therapy ,Animals ,Wounds and Injuries ,Horses ,Racing - Animals ,business ,Musculoskeletal System - Abstract
Objective—To determine the association between high-speed exercise and risk of injury while racing among Thoroughbreds in Kentucky. Design—Matched case-control study. Animals—206 Thoroughbreds that sustained a musculoskeletal injury while racing and 412 Thoroughbreds that were not injured during the same races. Procedure—Data regarding official timed workouts and races and the Beyer's numbers for the 3 races before the race during which injury occurred were extracted from past performance charts and compared between injured horses and control horses. Results—For injured horses, cumulative distance of high-speed exercise during the 1- and 2-month periods prior to the race in which injury occurred was significantly less than that of control horses; for either period, a difference of 10 furlongs was associated with approximately 2-fold greater risk of injury. Beyer's numbers were significantly higher for injured horses than for control horses. These effects remained significant after adjusting for age and results of prerace physical inspection. Conclusions and Clinical Relevance—In Kentucky, injured horses had significantly less cumulative highspeed exercise than did control horses during the 1- and 2-month periods prior to the race in which injury occurred. These results differ from those observed in California. The association of injury with cumulative high-speed exercise appears to vary among regions in the United States. (J Am Vet Med Assoc 2000; 216:1273–1278)
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- 2000
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9. Subtyping mtDNA haplogroup H by SNaPshot minisequencing
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Carlo Robino, Milena Alù, Pierangela Grignani, Paolo Fattorini, Carlo Previderè, G. Peloso, and Ugo Ricci
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Genetics ,Haplogroup L4a ,Haplogroup H ,Snapshot (computer storage) ,Genealogical DNA test ,General Medicine ,Biology ,Haplogroup CT ,Subtyping ,Haplogroup ,Human mitochondrial DNA haplogroup - Abstract
A population sample from North-Central Italy was analysed to investigate the frequency distribution of subclades of mtDNA haplogroup H. A specific SNaPshot assay was set up to detect diagnostic mutations identifying subhaplogroups from H1 to H7. Haplogroup H subtyping can be useful to discriminate among individuals sharing common mtDNA HVS I/II sequences.
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- 2006
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10. Comparison of phenylephrine administration and exercise versus phenylephrine administration and a rolling procedure for the correction of nephrosplenic entrapment of the large colon in horses: 88 cases (2004-2010)
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Steeve Giguère, John G. Peloso, Lisa E Fultz, and Aric R Adams
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medicine.medical_specialty ,Colon ,Rectum ,Acute abdominal pain ,Anesthesia, General ,Palpation ,Entrapment ,Phenylephrine ,Physical Conditioning, Animal ,medicine ,Animals ,Horses ,Sympathomimetics ,Retrospective Studies ,General Veterinary ,medicine.diagnostic_test ,business.industry ,Retrospective cohort study ,Surgery ,medicine.anatomical_structure ,Anesthesia ,Abdominal ultrasonography ,Large Colon ,Horse Diseases ,business ,Intestinal Obstruction ,medicine.drug - Abstract
Objective—To compare the outcome of horses with nephrosplenic entrapment of the large colon (NSELC) that were treated nonsurgically by IV administration of phenylephrine and exercise with that of horses treated by IV administration of phenylephrine and a rolling procedure under general anesthesia. Design—Retrospective case series. Animals—88 horses with NSELC. Procedures—Horses examined between 2004 and 2010 because of acute abdominal pain that had NSELC on the basis of findings on abdominal palpation per rectum, abdominal ultrasonography, or both were included. Medical records were reviewed to obtain information on treatment (IV administration of phenylephrine and exercise vs IV administration of phenylephrine and a rolling procedure) and outcome. Results—Overall, 85% (75/88) of horses with NSELC responded to exercise or rolling under general anesthesia. The success rate of rolling under general anesthesia (42/50 [84%]) was significantly higher than the success rate of exercise after IV administration of phenylephrine (24/38 [63.2%]). Resolution of NSELC was achieved by rolling under general anesthesia in 8 of 14 horses that initially failed to resolve with exercise. Conclusions and Clinical Relevance—A rolling procedure performed under general anesthesia had a higher success rate than exercise after IV phenylephrine administration for resolution of NSELC in horses, suggesting that rolling could be considered as the initial medical treatment. The rolling procedure may be labor intensive and should only be attempted in a surgical facility in the event that exploratory laparotomy is required
- Published
- 2013
11. Allele distribution of five X-chromosome STR loci in an Italian population sample
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Carlo Previderè, Pierangela Grignani, and G. Peloso
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Genetics ,education.field_of_study ,Population sample ,Allele distribution ,New mutation ,Population ,Str loci ,Locus (genetics) ,General Medicine ,Biology ,education ,Italian population ,X chromosome - Abstract
Population genetic data for five X-chromosomal STR loci (DXS7423, DXS6789, DXS6795, DXS9898 and DXS8377) were generated by analysing a population sample from Northwest Italy. Intensive stutter bands were observed for the DXS8377 locus. The analysis of the 40 family trios segregation showed no new mutation.
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- 2004
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12. Forensic evaluation of tetranucleotide STR instability in lung cancer
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G. Peloso, R. Rosso, Pierangela Grignani, and Carlo Previderè
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Genetics ,Locus (genetics) ,General Medicine ,Biology ,medicine.disease ,Molecular biology ,humanities ,Loss of heterozygosity ,Forensic science ,Forensic dna ,Allelic Imbalance ,Carcinoma ,medicine ,Allele ,Lung cancer - Abstract
The incidence of genetic instability affecting a set of STRs commonly used in forensic DNA analyses was assessed by performing a comparative study on 24 lung carcinomas with paired normal tissue samples. Out of 24 samples, 20 (83%) showed allele drop-out (ADO) in at least one STR locus. Allelic imbalance was detected at all the STR loci analysed. A small-cell carcinoma sample showed loss of heterozygosity (LOH), with complete deletion of one allele, at the D5S818 and D13S317 loci.
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- 2003
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13. Contributors
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Benjamin J. Ahern, Brian H. Anderson, Matthew J. Annear, Jörg A. Auer, Dr Med Vet, Charlotte S. Avella, Jeremy V. Bailey, Elizabeth A. Ballegeer, Joshua T. Bartoe, Michelle Henry Barton, Gary M. Baxter, Regula Bettschart-Wolfensberger, Anthony T. Blikslager, K. Josef Boening, Marc Bohner, Lindsey Boone, Lawrence R. Bramlage, Elizabeth A. Carr, Heather J. Chalmers, Joana Chaby L.S. Coelho, Frederik J. Derksen, John A. Disegi, Padraic M. Dixon, Bernd Driessen, Norm G. Ducharme, Rolf M. Embertson, Andrew T. Fischer, Lisa A. Fortier, Jennifer G. Fowlie, Samantha Helen Franklin, David E. Freeman, David D. Frisbie, Ian C. Fulton, Anton E. Fürst, Mathew P. Gerard, Barrie D. Grant, Joanne Hardy, Dean A. Hendrickson, Margarethe Hofmann-Amtenbrink, Michelle A. Jackson, Andris J. Kaneps, Jessica A. Kidd, Jennifer Kinns, Jan M. Kümmerle, Martin R. Kummer, Christoph J. Lischer, Mandi J. Lopez, Emma J. Love, Joel Lugo, Robert J. MacKay, Mark D. Markel, John F. Marshall, Freya Mowat, Margaret C. Mudge, Nathan C. Nelson, Frank A. Nickels, Alan J. Nixon, Eric J. Parente, Anthony P. Pease, John G. Peloso, John F. Peroni, Simon M. Petersen-Jones, Dr Vet Med, Kenneth E. Pierce, Patricia J. Provost, Peter C. Rakestraw, Sarah Ricco, Dean W. Richardson, Astrid B. Rijkenhuizen, Simone K. Ringer, James T. Robertson, Alan J. Ruggles, Bonnie R. Rush, Valerie F. Samii, Harold C. Schott, James Schumacher, Roger K.W. Smith, John A. Stick, Kenneth E. Sullins, Caroline Tessier, Wendy M. Townsend, P. René van Weeren, Brigitte von Rechenberg, John Walmsley, Jeffrey P. Watkins, Michael A. Weishaupt, David A. Wilson, and J. Brett Woodie
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- 2012
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14. X-chromosome in Italy: A database of 29 STR markers
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M. Venturi, Alessio Asmundo, G. Peloso, Eugenia Carnevali, E. D’Aloia, Valerio Onofri, L. Baldassarri, Milena Alù, Susi Pelotti, C. Di Nunzio, Nicoletta Cerri, Ranieri Domenici, Stefania Turrina, A. Barbaro, Luciana Caenazzo, Silvano Presciuttini, Carlo Robino, Andrea Piccinini, Chiara Toni, Presciuttini S., Toni C., Alù M., Asmundo A., Baldassarri L., Barbaro A., Caenazzo L., Carnevali E., Cerri N., D'Aloia E., Di Nunzio C., Onofri V., Peloso G., Pelotti S., Piccinini A., Robino C., Turrina S., Venturi M., and Dominici R.
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Genetics ,X-chromosome ,Population data ,STRs ,Population database ,Str markers ,Haplotype ,STR marker ,Biology ,Haplotype, Italy, Population database, STR marker, X-chromosome ,Pathology and Forensic Medicine ,Italy ,Population Database ,Multilocus genotype ,X chromosome - Abstract
We collected published and unpublished data from 17 contributing groups participating in the GeFI (Italian Forensic Geneticists). The total number of typed subjects was 1114 males and 777 females, coming from 11 regions of North, Centre, and South Italy, and Sardinia. Individual's multilocus genotypes included 4–12 loci. The total number of typed markers was 29, scattered along the X-chromosome genetic map in several clusters; the most used marker was DXS7423 (2429 gene copies); the mean number of subjects typed per marker was 336 for males and 208 for females. Data are available online.
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- 2011
15. Molecular characterisation of a mummified body found in a glacier
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L. Andrello, G. Peloso, Carlo Previderè, A. Osculati, Pierangela Grignani, Paolo Fattorini, Previdere`, C., Grignani, P, Peloso, G., Fattorini, Paolo, Andrello, L., and A. Osculati, A.
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geography ,Mitochondrial DNA ,geography.geographical_feature_category ,Future perspective ,Nail clippings ,Lineage markers ,MtDNA ,Genetic data ,Glacier ,Biology ,STR ,MtDNA, Mummified body, STR ,Pathology and Forensic Medicine ,Genetic profile ,Mummified body ,Evolutionary biology ,Genetics - Abstract
A complete genetic profile of a mummified male body that had emerged from the melting ice of an Alpine Glacier was achieved. The body could be dated back to the late 1920s, due to the finding of newspaper cuttings in an internal pocket of the clothes. DNA was recovered from still well preserved internal organs and nail clippings. Autosomal STRs, Y chromosomal STRs and SNPs and mtDNA HV1 region were determined in order to provide a complete genetic survey of the mummified body. In a future perspective, after having collected general information on the possible identity of the body, all these genetic data, and especially the ones from the lineage markers, could be used to get a positive identification.
- Published
- 2011
16. A mini primer set covering the mtDNA hypervariable regions for the genetic typing of old skeletal remains
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Paolo Fattorini, G. Peloso, Pierangela Grignani, Carlo Previderè, Grignani, P., Peloso, G., Fattorini, Paolo, and Previderè, C.
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mtDNA control region ,Genetics ,Mitochondrial DNA ,Haplotypes ,mtDNA ,Old skeletal remains ,Haplotype ,Biology ,Pathology and Forensic Medicine ,Hypervariable region ,Genetic typing ,Compact bone ,Femur ,Primer (molecular biology) - Abstract
A mini-primer set to amplify the mtDNA control region was developed and tested on fourteen long compact bone samples (femur and humerus samples) recovered from a World War II mass grave. This approach gave successful PCR amplifications for all but one of the bone samples. The following sequencing analysis identified seven different mtDNA haplotypes, three of which shared by more than one bone sample. These haplotypes were then compared to living relatives of missing persons disappeared in that area at the end of the WWII (1945).
- Published
- 2009
17. Biology and Management of Muscle Disorders and Diseases
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John G. Peloso
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Pathology ,medicine.medical_specialty ,medicine ,Biology ,Muscle disorder ,Bioinformatics - Published
- 2006
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18. Contributors
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Jörg A. Auer, George W. Bagby, Jeremy V. Bailey, Regula Bettschart-Wolfensberger, James T. Blackford, LeeAnn W. Blackford, Anthony T. Blikslager, Marc Bohner, Larry R. Bramlage, Dennis E. Brooks, H.H. Florian Buchner, Daniel J. Burba, Shauna L. Cantwell, Elizabeth A. Carr, Barbara L. Dallap Schaer, Charlotte S. Davis, Richard M. DeBowes, Frederick J. Derksen, John Disegi, Padraic M. Dixon, Norman G. Ducharme, Joan Dziezyc, Susan C. Eades, Rolf M. Embertson, Andrew T. Fischer, Lisa A. Fortier, David E. Freeman, David D. Frisbie, Anton E. Fu¨rst, Mathew P. Gerard, Brian C. Gilger, Barrie D. Grant, Joanne Hardy, Dean A. Hendrickson, Susan J. Holcombe, Michael O. Hottiger, Vivian E. Jamieson, Barbara Kaser-Hotz, Renée Léveillé, James D. Lillich, Christophorus J. Lischer, Mandi J. Lopez, Joel Lugo, Robert J. MacKay, Mark D. Markel, Thomas R. Miller, Nicholas J. Millichamp, Rustin M. Moore, Mark P. Nasisse, Frank A. Nickels, Alan J. Nixon, Eric J. Parente, John G. Peloso, Peter C. Rakestraw, Dean W. Richardson, Astrid B.M. Rijkenhuizen, James T. Robertson, Sheilah A. Robertson, Alan J. Ruggles, Bonnie R. Rush, Valerie F. Samii, Sarah N. Sampson, Robert K. Schneider, James Schumacher, Anja C. Schu¨tte, Roger K.W. Smith, Bernhard M. Spiess, John A. Stick, Lloyd P. Tate, Christine L. Theoret, Russell L. Tucker, Gottlieb Ueltschi, Alexander Valverde, P. René van Weeren, Brigitte von Rechenberg, R. Wayne Waguespack, Jeffrey P. Watkins, Michael A. Weishaupt, David A. Wilson, and Brett Woodie
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- 2006
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19. Validation of a large Italian Database of 15 STR loci
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Luigi Saravo, Benedetto Pennato, Ranieri Domenici, Carlo Robino, Alessio Asmundo, Andrea Piccinini, Adriano Tagliabracci, Andrea Verzeletti, Luciana Caenazzo, Michela Maniscalco, M. Venturi, G. Peloso, A. Barbaro, Ilaria Boschi, Eugenia Carnevali, Ugo Ricci, Milena Alù, Silvano Presciuttini, Stefania Turrina, Nicoletta Cerri, Susi Pelotti, Cosimo Di Nunno, Daniele Podini, Loredana Buscemi, Domenico De Leo, Presciuttini S, Cerri N, Turrina S, Pennato B, Alu M, Asmundo A, Barbaro A, Boschi I, Buscemi L, Caenazzo L, Carnevali E, De Leo D, Di Nunno C, Domenici R, Maniscalco M, Peloso G, Pelotti S, Piccinini A, Podini D, Ricci U, Robino C, Saravo L, Verzeletti A, Venturi M, and Tagliabracci A
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Male ,Population data ,Population ,Population genetics ,Forensic genetics ,Biology ,computer.software_genre ,STR ,Polymerase Chain Reaction ,Pathology and Forensic Medicine ,Gene Frequency ,Proficiency testing ,Humans ,education ,Allele frequency ,Identifiler STR ,Standard Population ,education.field_of_study ,Database ,Database validation ,DNA Fingerprinting ,Genetics, Population ,Databases as Topic ,Italy ,Tandem Repeat Sequences ,Str loci ,Microsatellite ,Female ,Allele sharing ,Law ,computer - Abstract
Results from a collaborative exercise with proficiency testing conducted by 20 Italian laboratories on the 15 loci included in the Identifiler ® kit were analyzed by allele sharing methods and by standard population genetics tests. The validated database, including about 1500 subjects, was merged with that of a previous exercise conducted on nine loci, and the resulting allele frequencies, subdivided by Italian region, were published on-line.
- Published
- 2006
20. Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification
- Author
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Sarah Gino, Adriano Tagliabracci, Pierangela Grignani, G. Peloso, L Giunti, Chiara Turchi, Milena Alù, Carlo Previderè, Giovanni Beduschi, Carlo Robino, Ugo Ricci, and Alessandro Achilli
- Subjects
Forensic Genetics ,Mitochondrial DNA ,Haplogroup H ,MtDNA ,primer extension methods ,Single-nucleotide polymorphism ,Biology ,DNA, Mitochondrial ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,Haplogroup ,Pathology and Forensic Medicine ,Humans ,Multiplex ,SNPs ,haplogroups ,HVS ,DNA Primers ,Genetics ,mtDNA ,Haplotype ,Sequence Analysis, DNA ,Complementarity Determining Regions ,Subtyping ,Forensic identification ,Haplotypes ,Italy ,Primer extension methods ,Haplogroups - Abstract
Sequence variation of the hypervariable segments (HVS) I/II of mitochondrial DNA (mtDNA) and the haplogroup affiliation were determined in a sample of 271 Italian subjects. This analysis showed that 42% of the individuals could be ascribed to H, the most frequent haplogroup in European Caucasian populations. This fraction was then screened for specific single nucleotide polymorphisms located in the coding region to identify H subclades H1-H15. We set up two multiplex polymerase chain reactions and specific SNaPshot assays to investigate the frequency distribution of these subgroups in our population sample and to examine their usefulness in discriminating among commonly shared HVS I/II sequences. This allowed the assignment of a large portion of the mtDNAs ( approximately 70%) to specific subhaplogroups, with H1 and H5 being the most represented. About two-thirds of the individuals sharing common HVS I/II sequences were subdivided and ascribed to specific H subhaplogroups with a significant reduction of the frequencies of the most common mtDNA haplotypes. Haplogroup H subtyping could thus be extremely useful in forensic identification when many samples have to be analysed and compared, avoiding excessive time-consuming and labor-intensive sequencing analysis.
- Published
- 2006
21. Cardiac troponin I in pastured and race-training Thoroughbred horses
- Author
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Wade Phillips, Steeve Giguère, Jorge A. Hernandez, Darcy B. Adin, Robert P. Franklin, and John G. Peloso
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Male ,medicine.medical_specialty ,Cardiac troponin ,Reference range ,macromolecular substances ,Breeding ,Colorimetric immunoassay ,Running ,Reference Values ,Internal medicine ,Physical Conditioning, Animal ,Troponin I ,medicine ,Animals ,cardiovascular diseases ,Horses ,Animal Husbandry ,Training performance ,General Veterinary ,medicine.diagnostic_test ,business.industry ,musculoskeletal system ,Highly sensitive ,cardiovascular system ,Cardiology ,Physical Endurance ,Biomarker (medicine) ,Female ,business ,Electrocardiography - Abstract
Cardiac troponin I (cTnI), a myocardial polypeptide, is a highly sensitive and specific biomarker of myocardial injury in people and dogs. The structure of cTnI is highly conserved across species, and equine myocardium has high reactivity with human immunoassays. The purpose of this study was to describe cTnI concentrations in normal pastured and race-training Thoroughbred horses. Ten horses on pasture and 10 horses in race training were studied. Horses were considered normal on the basis of physical examination, training performance, electrocardiography (ECG), and echocardiography. Serum cTnI concentrations were determined with a colorimetric immunoassay. The assay has an analytical sensitivity of 0.04 ng/mL. Serum cTnI concentrations in race-training horses were not significantly different from those of pastured horses. When groups were combined, mean cTnI concentration (+/- SD) was 0.047 +/- 0.085 ng/mL. and the median was 0 (range, 0-0.35 ng/mL). The 90th percentile for both groups combined was 0.11 ng/mL. This study establishes a preliminary reference range for serum cTnI in normal Thoroughbred horses.
- Published
- 2003
22. A multicentric study of SE33 allele frequencies in the italian population
- Author
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Chiara Turchi, Isabella Spinetti, P. Cortivo, Luciana Caenazzo, G. Pierucci, Ranieri Domenici, Chiara Toni, G. Peloso, Silvano Presciuttini, Mauro Pesaresi, Adriano Tagliabracci, Carlo Previderè, E. Ponzano, Pierangela Grignani, and Loredana Buscemi
- Subjects
Genetics ,Geography ,Population study ,General Medicine ,Allele ,Allele frequency ,Italian population ,Demography ,Genotype frequency - Abstract
Allele and genotype frequencies for STR SE33 were obtained for a sample of 419 Italians in view of application in personal identification and paternity. D 2003 Elsevier Science B.V. All rights reserved.
- Published
- 2003
23. Use of Standing MRI and a New MRI Grading System of the Subchondral Bone of the Distal Third Metacarpal Bone to Identify Bone Changes in the Thoroughbred Racehorse When Comparing 21 Cases of Catastrophic Biaxial Proximal Sesamoid Bone Fracture with 53 Con
- Author
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J. G. Peloso, Noah D. Cohen, P. Marquis, L. Hilt, and J. B. Vogler
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Fetlock ,medicine.medical_specialty ,business.industry ,Dentistry ,Retrospective cohort study ,General Medicine ,Condyle ,Distal third ,Surgery ,Increased risk ,Subchondral bone ,Sesamoid bone ,Third metacarpal bone ,Medicine ,medicine.bone ,business - Abstract
Reasons for performing study Biaxial fracture of the proximal sesamoid bones (PSB) is the leading cause of fetlock failure resulting in euthanasia in Thoroughbred racehorses in California, Kentucky and Hong Kong. Identifying alterable risk factors to reduce biaxial PSB fractures could have a significant impact on reducing the occurrence of catastrophic failure of the fetlock (CFF). Objectives We hypothesised that standing MRI (sMRI) would identify a greater degree of bone change in Thoroughbred racehorses with CFF from biaxial PSB fracture when compared to controls. Study design Retrospective cohort study. Methods Bone changes from Florida Thoroughbred racehorses with CFF due to biaxial fracture of the PSB (n = 21) were compared to controls (n = 53) using the sMRI. Data for control limbs were Florida racehorses that were subjected to euthanasia for reasons other than CFF (enteritis, pneumonitis, etc.). All forelimb fetlocks underwent sMRI imaging within 72 h of euthanasia. Bone scores were assigned to the subchondral bone (SCB) on the distal palmar aspect of the lateral and medial condyle of the third metacarpal bone (McIII) and the lateral and medial PSB. All information for analysis from sMRI images for cases and controls for all Thoroughbred racehorses was reviewed and collected by the lead author. The association between the dichotomous outcomes of PSB fracture with independent variables was assessed using bivariable and multivariable logistic regression analysis with significance set at P75% sclerosis of the ipsilateral lateral PSB (43%, 9/21) was significantly greater than that among controls (6%, 3/53). The proportion of cases with SCB lesion grade >3 of the contralateral palmar lateral condyle (29%, 6/21) was significantly greater than that among controls (0%, 0/53). Conclusions The sMRI identified a significantly greater degree of bone change in racehorses with PSB fracture compared to control horses. These identified changes may be useful as a screening tool to identify horses at increased risk of fetlock fracture during racing. Ethical animal research: Explicit owner informed consent for participation in this study was not given but permission for post mortem examination was given by the Racing Authority. Sources of funding: None. Competing interests: No competing interests have been declared.
- Published
- 2014
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24. Highly informative Y-chromosomal haplotypes by the addition of three new STRs DYS437, DYS438 and DYS439
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G. Peloso, Pierangela Grignani, Carlo Previderè, and Paolo Fattorini
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Genetics ,Male ,Haplotype ,Genetic Variation ,Locus (genetics) ,Paternity ,Biology ,Y chromosome ,Genome ,Italian population ,DNA Fingerprinting ,humanities ,Pathology and Forensic Medicine ,law.invention ,Gene Frequency ,Haplotypes ,Italy ,law ,Tandem Repeat Sequences ,Y Chromosome ,Humans ,Allele ,Allele frequency ,Polymerase chain reaction - Abstract
The Y chromosome STRs DYS437, DYS438 and DYS439 were selected from publicly available genome databases and used to analyse an Italian population sample. A tetraplex PCR reaction including the highly informative DYS385 locus, was set up and used for the analysis of 131 male samples to determine allele frequencies and STR diversity values. The number of different haplotypes and the haplotype diversity value found from the analysis of the STRs included in the tetraplex reaction were very similar to those found from the analysis of the basic set of 7 Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392 and DYS393) previously carried out on the same population sample. By combining the allelic states of the 11 Y-chromosomal STRs we could construct highly informative haplotypes that allowed the discrimination of 93.8% (120 out of 128) of the samples tested. This approach represents a very powerful tool for individual identification and paternity testing in forensic medicine.
- Published
- 2001
25. Frequency of musculoskeletal injuries and risk factors associated with injuries incurred in Quarter Horses during races
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N D, Cohen, B T, Dresser, J G, Peloso, G D, Mundy, and A M, Woods
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Male ,Likelihood Functions ,Incidence ,New Mexico ,Age Factors ,Videotape Recording ,Texas ,Sex Factors ,Risk Factors ,Case-Control Studies ,Physical Conditioning, Animal ,Athletic Injuries ,Forelimb ,Odds Ratio ,Animals ,Regression Analysis ,Female ,Horses ,Musculoskeletal System ,Physical Examination - Abstract
To determine the frequency and anatomic location of musculoskeletal injuries incurred by Quarter Horses during races and to compare data from injured horses and matched control horses.Matched case-control study.97 Quarter Horses that sustained a musculoskeletal injury during races and 291 horses from the same races that were not injured.Data examined included racing history, race-entrant characteristics, racing events determined by analysis of videotapes of races, and, when performed, results of prerace physical inspections. Data for injured horses were compared with data for control horses, using conditional logistic regression.Incidence of a catastrophic injury among Quarter Horses during races was approximately 0.8/1,000 race starts, whereas incidence of musculoskeletal injury during racing was approximately 2.2/1,000 race starts. Odds of musculoskeletal injury were approximately 8 times greater among horses assessed to be at increased risk of injury on the basis of results of prerace physical inspection than for horses not considered to be at increased risk of injury. Evidence was lacking that 2-year-old horses were at increased risk of injury or that sex influenced the risk of injury among Quarter Horses during races.Incidence of racing injury among Quarter Horses appears to be lower than that observed among Thoroughbreds. Regulatory veterinarians can identify horses at increased risk of injury on the basis of prerace physical inspection, indicating that these inspections could be used to reduce the risk of injury during races.
- Published
- 1999
26. Results of physical inspection before races and race-related characteristics and their association with musculoskeletal injuries in Thoroughbreds during races
- Author
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N D, Cohen, G D, Mundy, J G, Peloso, V J, Carey, and N K, Amend
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Male ,Age Factors ,Kentucky ,Models, Biological ,Cohort Studies ,Sex Factors ,Risk Factors ,Physical Conditioning, Animal ,Athletic Injuries ,Forelimb ,Multivariate Analysis ,Linear Models ,Animals ,Female ,Horses ,Musculoskeletal System ,Physical Examination - Abstract
To estimate the relative risk of injury among horses deemed to be at increased risk of injury on the basis of prerace physical inspection findings and to examine the association of injury during races with race-related characteristics.Cohort study.2,187 Thoroughbred horses that started 3,227 races in Kentucky.All race starts for which a horse was deemed to be at increased risk of injury on the basis of prerace physical inspection findings and a random sample of race starts for which horses were not deemed at increased risk of injury were included in the study. Findings of prerace physical inspection, race-related characteristics, and outcome of the race (race results and whether the horse incurred an injury) were recorded for each race start. Race starts in which a horse incurred an injury during a race were compared with race starts in which injuries were not incurred to identify factors associated with injury during races.Abnormality of the suspensory ligament of the forelimbs detected during prerace physical inspection, racetrack, class of race (claiming raceor = $25,000 vs other classes), and distance of race (7 furlongs vs other distances) were significantly associated with increased risk of injury.Prerace physical inspection findings, particularly abnormalities of the suspensory ligament, may be used to identify horses at increased risk of injury during races. Rate of injury differed among racetracks, and horses in certain types of races (lower-priced claiming races and races of shorter distance) may be at increased risk of injury during races.
- Published
- 1999
27. Genetic characterisation of six miniSTR loci in an Italian population sample
- Author
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G. Peloso, Pierangela Grignani, and Carlo Previderè
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Genetics ,Population sample ,Population data ,Sample (statistics) ,Typing ,Biology ,Italian population ,Allele frequency ,Pathology and Forensic Medicine - Abstract
Allele frequencies for the miniSTR loci D10S1248, D14S1434, D22S1045 ( NC01 ) and D1S1677, D2S441, D4S2364 ( NC02 ) were determined in a population sample from North-Western Italy. No significant deviations from Hardy–Weinberg equilibrium expectations were detected. The forensic usefulness of the selected miniSTRs was confirmed typing different aged samples and analysing 20 family trios with paternity confirmed with CODIS autosomic STRs.
- Published
- 2008
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28. Study of 15 protein polymorphisms in a sample of the Turkish population
- Author
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A, Brega, R, Scacchi, M, Cuccia, B, Kirdar, G, Peloso, and R M, Corbo
- Subjects
Adult ,Europe ,Genetic Markers ,Male ,Polymorphism, Genetic ,Gene Frequency ,Turkey ,Residence Characteristics ,Humans ,Female ,Blood Proteins ,Gene Pool ,Emigration and Immigration - Abstract
Anatolia, because of its geographic position and its use as an area of settlement, was also a land of transit that accommodated a succession of populations. The last important invasion occurred in the Middle Ages with the arrival of the Turks, an Altaic-speaking nomadic population descended from the Oguz tribes and originating in Mongolia. Although the Turks imposed their culture, their genetic contribution seems to have been modest. To validate this hypothesis, we studied the genetic structure of the Turkish population by examining 15 genetic markers in a sample of 93 subjects. The allele frequencies observed were HP*1 = 0.240; GLO1*1 = 0.344, ESD*2 = 0.134, GC*1S = 0.613, GC*1F = 0.129, PGM1*2S = 0.322, PGM1*2F = 0.041, PGM1*1F = 0.027, F13B*1 = 0.762, F13B*2 = 0.101, ORM1*S = 0.327, AHSG*2 = 0.181, C6*B = 0.239, C7*1 = 0.983, APOC2*1 = 1.0, APOE*3 = 0.868, APOE*2 = 0.063, BF*F = 0.258, BF*S07 = 0.017, BF*SQ0 = 0.011, C4A*Q0 = 0.145, C4A*2 = 0.070, C4A*5 = 0.012, C4A*6 = 0.023, C4B*Q0 = 0.101, C4B*2 = 0.048, C4B*3 = 0.005, and C4B*11 = 0.005. The present Turkish population was compared to other European, Middle Eastern, and North African populations by means of correspondence analysis. Turks cluster with Turkomans, who share the ancient Turks' derivation from the Oguz tribe. Moreover, Turks clearly belong to European groups and resemble the populations of neighboring countries. Therefore the present data support the hypothesis that the ancient Turkish tribes, who started to enter Anatolia 1000 years ago, contributed little to the gene pool of the preexisting Anatolian populations. Alternatively, if the genetic structure of the invading Turks resembled that of the ancient Anatolians, it will be impossible to find traces of their admixture with the autochthonous inhabitants of Anatolia. However, further analysis of other samples from Turkey and from populations living in the homelands of the Turkish tribes, namely, the eastern area of the Caspian Sea and Mongolia, is needed.
- Published
- 1998
29. Evaluation of skin bacterial flora before and after aseptic preparation of clipped and nonclipped arthrocentesis sites in horses
- Author
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Clifford M. Honnas, R. Bruce Simpson, Brent A. Hague, and John G. Peloso
- Subjects
medicine.medical_specialty ,Microbiological culture ,medicine.medical_treatment ,Staphylococcus ,Bacillus ,Bacillus sp ,Injections, Intra-Articular ,Micrococcus ,Agar plate ,medicine ,Animals ,Paracentesis ,Horses ,Povidone-Iodine ,Asepsis ,Skin ,Arthritis, Infectious ,General Veterinary ,business.industry ,Horse ,Arthrocentesis ,Surgery ,medicine.anatomical_structure ,Evaluation Studies as Topic ,Midcarpal joint ,Anti-Infective Agents, Local ,Aseptic processing ,Interphalangeal Joint ,business ,Hair - Abstract
Objective—This study evaluates skin bacterial flora before and after aseptic preparation of clipped and nonclipped arthrocentesis sites in horses. Study Design—The hair over one midcarpal joint and one distal interphalangeal joint on each horse was clipped. The contralateral joint served as the nonclipped comparison. Animals or Sample Population—Twelve adult horses. Methods—A prescrub sample for microbial culture was taken from the dorsal surface of all four joints for each horse. Each site was aseptically prepared with povidone iodine and 70% alcohol, followed by postscrub sampling for microbial culture. Colony forming units (CFUs) were determined for each sample, 24 hours after inoculation of blood agar plates. Results—There was no significant difference (P >.05) in number of postscrub CFUs between clipped and nonclipped skin over the midcarpal or distal interphalangeal joints. Percent bacterial reduction (mean ± SD%) after aseptic preparation differed significantly (P=.02) between clipped (99.8 ±.003%) and nonclipped (96.2 ±.05%) skin at the midcarpal joint, but not at the distal interphalangeal joint (clipped, 98.5 ±.03% and nonclipped, 97.8 ± 0.21%). There was a significant difference (P=.009) in number of prescrub CFUs obtained from clipped and nonclipped skin for the midcarpal joint. There was no significant difference in number of prescrub CFUs between clipped and nonclipped skin at the distal interphalangeal joint. Bacteria isolated from both clipped and nonclipped skin sampled postscrub included Bacillus sp, nonhemolytic Staphylococcus sp, and Micrococcus sp. Conclusions—The presence of hair over the midcarpal and distal interphalangeal joints does not appear to inhibit the ability of antiseptics to effectively reduce bacterial flora to an acceptable level for arthrocentesis. Clinical Relevance—Aseptic preparation of the skin over the midcarpal and distal interphalangeal joints can be accomplished without hair removal in horses.
- Published
- 1997
30. Case-control study of risk factors for the development of laminitis in the contralateral limb in Equidae with unilateral lameness
- Author
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J G, Peloso, N D, Cohen, M A, Walker, J P, Watkins, J M, Gayle, and W, Moyer
- Subjects
Foot Diseases ,Inflammation ,Male ,Radiography ,Hoof and Claw ,Risk Factors ,Case-Control Studies ,Lameness, Animal ,Animals ,Female ,Equidae - Abstract
To identify risk factors associated with development of laminitis of the supporting limb in Equidae with unilateral laminitis and to determine the radiographic appearance of this type of laminitis.Retrospective analysis of medical records.20 Equidae with unilateral lameness that developed laminitis of the contralateral limb.Case animals were compared with matched and unmatched populations of control animals that did not develop contralateral limb laminitis. Lateromedial radiographic projections of affected feet were evaluated for evidence of laminitis.Body weight of case animals was not significantly different from that of control animals, but number of days that control animals were lame prior to recovery was significantly less than number of days that case animals were lame prior to the onset of laminitis. Lateromedial radiographic projections of the foot of the support limb were available for 16 of the 20 case animals. For all 16, thickness of the soft tissue dorsal to the distal phalanx was29% of the palmar cortical length of the distal phalanx, but only 1 had evidence of rotation of the distal phalanx. The proportion of case animals that were euthanatized was significantly greater than the proportion of control animals that were euthanatized.Duration of lameness, but not body weight, was a risk factor for development of laminitis in the contralateral limb in Equidae with unilateral lameness, and animals that developed this complication were more likely to be euthanatized than were animals that did not.
- Published
- 1996
31. Risk factors for history of previous colic and for chronic, intermittent colic in a population of horses
- Author
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N D, Cohen and J G, Peloso
- Subjects
Male ,Logistic Models ,Colic ,Recurrence ,Risk Factors ,Case-Control Studies ,Chronic Disease ,Animals ,Female ,Horse Diseases ,Horses ,Texas - Abstract
To identify risk factors for recurrent colic and chronic, intermittent colic in horses.Case control study.The population included 768 horses examined by veterinarians for emergencies other than colic (control group).Horses with colic that had history of colic (n = 232) were compared with those without such history (n = 536), using logistic regression analysis to identify risk factors for history of previous colic and to determine odds ratios (OR) for these associations. Among the 232 horses in the history of colic group, 58 horses that had chronic, intermittent colic were compared with the no history of colic group and the control group to identify factors associated with chronic, intermittent colic, using multiple logistic regression analysis.Among horses with colic, factors significantly associated with history of colic by multiple logistic regression analysis included history of abdominal surgery (OR = 3.1; P0.0001), age8 years (OR = 1.5; P0.0001), feeding of coastal grass hay (OR = 1.34; P 0.012), Arabian bread (OR = 1.28; P = 0.044), and recent change in stabling (OR = 0.76, P = 0.024). Among horses with colic, factors significantly associated with chronic, intermittent colic were history of previous abdominal surgery (OR = 2.2; P = 0.021), age8 years (OR = 2.0; P0.0001), being a gelding (OR = 1.7 with female as the reference population; P = 0.002), feeding of coastal grass hay (OR = 1.6; P = 0.045), and farm density0.5 horses/acre (OR = 1.6; P = 0.003). When the CIC group was compared with the control group, significant risk factors included history of abdominal surgery (OR = 270.7; P0.0001), age8 years (OR = 2.4; P0.0001), recent change in diet (OR = 2.1; P = 0.005), farm density0.5 horses/acre (OR = 2.0; P = 0.0001); being a gelding (OR = 1.8, with female as the reference population; P = 0.002), and Arabian breed (OR = 1.6; P = 0.050).Certain findings of signalment and management factors may identify horses at increased risk of recurrent forms of colic.
- Published
- 1996
32. Allele Frequencies of the HUMFES/FPS System in Northern and Central Italy
- Author
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S. D. Ferrara, A. Riva, N. Cucurachi, L. Buscemi, G. Pierucci, I. Spinetti, M Nardone, M. Bargagna, S. Fornaciari, G. Peloso, D. Rodriguez, A. Tagliabracci, Carlo Previderè, M. Paoli, and Ranieri Domenici
- Subjects
medicine.medical_specialty ,Geography ,Medical jurisprudence ,medicine ,Humfes fps ,Allele frequency ,Italian population ,Demography - Abstract
The tetrameric (ATTT) short tandem repeat HUMFES/FPS system, located on chromosome 15 (15q25-qter), displays a polymorphism (Polymeropoulos et al. 1991) which has been investigated for forensic purposes (Hammond et al. 1994). The aim of the present work was to study the polymorphism of this system in a large Italian population sample: 1) to verify allele frequency distribution, 2) to check whether allele frequencies show inter-regional differences, 3) to evaluate the effectiveness of this system for paternity testing and personal identification. For this purpose, collaborative research was performed on subjects from four Italian regions in laboratories of the Institutes of Legal Medicine of the Universities of Pavia (Lombardy), Parma (Emilia), Pisa (Tuscany) and Ancona (Marches).
- Published
- 1996
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33. Technique for long-term ileal cannulation in ponies
- Author
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J G, Peloso, J, Schumacher, S R, McClure, M R, Crabill, D V, Hanselka, D D, Householder, and G D, Potter
- Subjects
Postoperative Complications ,Time Factors ,Ileum ,digestive, oral, and skin physiology ,Animals ,Horses ,Catheterization ,Research Article - Abstract
A T-cannula was fitted permanently into the ileum of ten mature ponies to quantify the role of the prececal and postileal segments of the digestive tract in equine nutrition studies. The ponies were anesthetized, positioned in left lateral recumbency, and the distal small intestine was exteriorized through a right paralumbar incision. A silastic T-cannula was inserted through a 2-cm longitudinal incision into the lumen of the ileum, on the antimesenteric surface, and sutured to the ileum. The stem of the cannula was exteriorized through a 2-cm circular skin incision, 6 cm caudal to the 16th rib. Nine ponies were alive with functional cannulas after six months. Primary complications associated with cannulation of the ileum were clinical signs of depression and dehydration produced by leakage of intestinal contents around the stem of the cannula. These complications were resolved with fluid and electrolyte therapy.
- Published
- 1994
34. Removal of the preputial diverticulum in swine
- Author
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B, Lawhorn, P D, Jarrett, G F, Lackey, M, Crabill, J G, Peloso, and A, Steiner
- Subjects
Male ,Isoflurane ,Swine ,Suture Techniques ,Animals ,Swine, Miniature ,Anesthesia, General ,Orchiectomy ,Penis - Abstract
A new technique for removal of the preputial diverticulum in swine was performed on 33 sexually intact male potbellied pigs, 12 domestic boar cadavers, and 4 domestic swine (2 sexually intact males and 2 barrows). With each pig under general anesthesia, the body and horns of the diverticulum were everted through the preputial orifice and excised. In some cases, the stump of the diverticulum was sutured. Remaining tissues were allowed to retract through the preputial orifice. The technique was more rapid than the conventional method because skin incision and blunt dissection were unnecessary. Although the technique was developed as a preventive sanitary procedure to accompany routine castration of pet pigs, it has application to domestic swine practice.
- Published
- 1994
35. Prevalence of, and factors associated with, musculoskeletal racing injuries of thoroughbreds
- Author
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J G, Peloso, G D, Mundy, and N D, Cohen
- Subjects
Male ,Athletic Injuries ,Prevalence ,Animals ,Kentucky ,Extremities ,Female ,Horses ,Breeding ,Musculoskeletal System ,Retrospective Studies - Abstract
All horses diagnosed by a commission veterinarian of the Kentucky Racing Commission as having sustained a musculoskeletal injury, defined as an obvious change in soundness immediately before, during, or after a race held between Jan 1, 1992 and May 31, 1993 were included in a study to determine the prevalence of and factors associated with racing injuries involving the musculoskeletal system of horses competing at 4 Thoroughbred racetracks in Kentucky. During the 17-month study, there were 35,484 racing starts among 7,649 horses in 3,824 official Kentucky Racing Commission races. During this period, 132 musculoskeletal racing injuries were diagnosed among 117 horses. Twenty-eight injured horses were male, 46 were geldings, and 43 were female. The prevalence of horses with racing injuries per racing start was 0.33% (117/35,484). The injuries of 51 horses were classified as catastrophic, and 66 as noncatastrophic. The prevalence of horses with catastrophic injuries per racing start was 0.14% (51/35,484). The proportion of horses with injuries of the left forelimb, sesamoid, and third metacarpal bone in the catastrophic group was significantly (Por = 0.05) greater than those of horses in the noncatastrophic group. The proportion of horses with injuries of the superficial digital flexor tendon among those in the catastrophic group was significantly less than that of horses in the noncatastrophic group. The distance of the race was significantly shorter and the number of turns less among horses with catastrophic injuries than among horses with noncatastrophic injuries.(ABSTRACT TRUNCATED AT 250 WORDS)
- Published
- 1994
36. The Distribution of HUMTH01 Polymorphism in Northern and Central Italy
- Author
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Carlo Previderè, E. Regazzi, Isabella Spinetti, M. Venturi, G. Peloso, Loredana Buscemi, M Nardone, Sd Ferrara, Ranieri Domenici, R. Mencarelli, Adriano Tagliabracci, M. Bargagna, and N. Cucurachi
- Subjects
Evolutionary biology ,Microsatellite ,Locus (genetics) ,Allele ,Biology - Abstract
HUMTH01 polymorphism, first described by Edwards et al (1991), is due to a variation in the length of a tetrameric short tandem repeat on locus 11p15.5. Seven alleles were identified in the range 183–207 bp (Edwards et al 1992).
- Published
- 1994
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37. Application of PCR Technique for the Characterization of Human Bones
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C. Previdere and G. Peloso
- Subjects
chemistry.chemical_compound ,medicine.anatomical_structure ,DNA degradation ,chemistry ,medicine ,Human bone ,Microsatellite ,Computational biology ,Allele ,Biology ,Bone tissue ,Pcr analysis ,DNA - Abstract
One of the sources of more stable DNA and, at times, the only physical evidence of human remains is bone tissue. DNA from bone tissue, even if extensively degraded, can be typed by PCR analysis of loci with a low range of alleles (
- Published
- 1994
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38. Bilateral stress fractures of the tibia in a racing American quarter horse
- Author
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J G, Peloso, J P, Watkins, S R, Keele, and E L, Morris
- Subjects
Male ,Radiography ,Tibial Fractures ,Fractures, Stress ,Lameness, Animal ,Animals ,Horses ,Breeding ,Radionuclide Imaging ,Sports - Published
- 1993
39. Effects of subcutaneous calcitriol administration on plasma calcium and parathyroid hormone concentrations in continuous ambulatory peritoneal dialysis uremic patients
- Author
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D, Rolla, E, Paoletti, L, Marsano, D, Mulas, G, Peloso, and G, Cannella
- Subjects
Adult ,Male ,Injections, Subcutaneous ,Middle Aged ,Alkaline Phosphatase ,Phosphates ,Calcitriol ,Peritoneal Dialysis, Continuous Ambulatory ,Parathyroid Hormone ,Humans ,Calcium ,Female ,Hyperparathyroidism, Secondary ,Prospective Studies ,Aged ,Uremia - Abstract
To ascertain whether the parathyroid hormone (PTH) secretion of continuous ambulatory peritoneal dialysis (CAPD) uremic patients could be suppressed by repeated subcutaneous injections of calcitriol (CLT).Nonrandomized prospective study with weekly evaluation.Hospital CAPD clinic.Seven uremic CAPD patients with signs of severe hyperparathyroidism.Patients were treated with CLT (2 micrograms), injected subcutaneously three times a week, on alternate days over a period of 8 weeks.Plasma PTH, ionized calcium (Ca), serum phosphate (Pi), and alkaline phosphatase (AP) were assayed before the start of CLT therapy and weekly thereafter.The average basal PTH was 349 +/- 26 pg/mL (mean +/- SD). It fell significantly by the fifth week to 158 +/- 20, then leveled off. Analysis of the individual data, however, revealed that only 5 of 7 patients had a significant decrease in plasma PTH. Basal Ca was +/- .02 mmol/L; it increased continuously throughout the study, significantly by the fourth week, reaching a level of 1.33 +/- 0.3 mmol/L at the sixth week, then declined slightly. In those patients with significantly decreased PTH, there was an inverse correlation between PTH and the corresponding Ca levels.In some CAPD patients subcutaneous administration of CLT significantly suppresses PTH. This effect is mainly mediated via an increase in ionized calcium, but a direct inhibitory effect of the vitamin on parathyroid glands cannot be excluded.
- Published
- 1993
40. Obstructive enterolith in an 11-month-old miniature horse
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J G, Peloso, R W, Coatney, J P, Caron, and B A, Steficek
- Subjects
Male ,Radiography ,Colonic Diseases ,Animals ,Horse Diseases ,Horses ,Calculi ,Intestinal Obstruction - Abstract
An obstructive enterolith was diagnosed in an 11-month-old 68-kg miniature horse with a 24-hour history of mild, intermittent colic. Abdominal radiography revealed gas distention of the cecum and the right and left ascending colon, and a radiodense elliptical structure in the area of the left kidney. During exploratory laparotomy, the right dorsal colon was noticed to contain ecchymotic hemorrhage and generalized discoloration in the portion proximal to the location of the enterolith. While exteriorizing the ascending colon, it ruptured caudal to the diaphragmatic flexure in the right dorsal colon. Radiography of the enterolith did not reveal a metallic center, but division of the stone allowed identification of a canvas cloth, and chemical analysis determined the stone's composition to be ammonium magnesium phosphate. Although equine enteroliths were reported over 100 years ago and the factors involved in their formation were investigated, the reasons for their development have yet to be determined. The mean reported age of horses requiring abdominal surgery because of an obstructive enterolith is 10 years, with the youngest being 4 years. The time required for an enterolith to enlarge is unknown, although a true enterolith has not been reported in horses younger than 4 years of age.
- Published
- 1992
41. Epiglottic augmentation by use of polytetrafluoroethylene to correct dorsal displacement of the soft palate in a standardbred horse
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J G, Peloso, J A, Stick, F A, Nickels, J M, Lumsden, and F J, Derksen
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Male ,Laryngoscopy ,Neck Muscles ,Physical Exertion ,Exercise Test ,Animals ,Horse Diseases ,Horses ,Prostheses and Implants ,Palate, Soft ,Mouth Diseases ,Epiglottis ,Polytetrafluoroethylene - Abstract
A 2-year-old 400-kg Standardbred colt with a history of exercise intolerance was determined to have dorsal displacement of the soft palate (DDSP). Standing endoscopy revealed a soft, flaccid, and hypoplastic epiglottis and arytenoid cartilages that moved symmetrically and abducted fully. Lateral laryngeal radiography was used to calculate a corrected thyroepiglottic length of 6.48 cm. Videoendoscopy during exercise on a high-speed treadmill at standardized treadmill speeds was performed weekly for 3 consecutive weeks. The soft palate dorsally displaced at each examination. A sternohyoideus/sternothyroideus myectomy was followed by 2 weeks of stall rest and 2 weeks of treadmill training. Because endoscopy during exercise at standardized treadmill speeds caused the horse to dorsally displace the soft palate once a week for 3 weeks after the myectomy, this surgery was deemed ineffective in this horse. Epiglottic augmentation was performed by injecting 7 ml of polytetrafluoroethylene into the ventral submucosal space of the epiglottis. After 21 days of stall rest and 5 weeks of pasture rest, the horse was placed on a 2-month treadmill conditioning program. Using endoscopy at standardized treadmill speeds, exercise efforts to encourage DDSP were unsuccessful, which suggested that epiglottic augmentation by use of polytetrafluoroethylene was an effective surgical treatment to correct dorsal displacement of the soft palate in this horse. It is believed that polytetrafluoroethylene increases the rigidity of the epiglottis, allowing it to maintain the ventral position of the soft palate.
- Published
- 1992
42. Arthroscopic removal of an osteochondral fragment from the caudal pouch of the lateral femorotibial joint in a colt
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J A, Stick, L A, Borg, F A, Nickels, J G, Peloso, and D L, Perau
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Male ,Arthroscopy ,Lameness, Animal ,Animals ,Horse Diseases ,Joints ,Horses ,Joint Diseases ,Hindlimb - Abstract
An osteochondral fragment was removed from the caudal pouch of the lateral femorotibial joint in a 2-year-old Trakehner colt by use of arthroscopic surgery and a lateral approach. The approach to this aspect of the femorotibial joints was developed in another horse. The fragment was not attached and resembled an osteochondritis dissecans lesion. The intermittent lameness associated with the fragment resolved after surgical removal. A positive response to diagnostic anesthesia of the femorotibial joint in the absence of a confirmed diagnosis (following radiographic and arthroscopic evaluations of the other aspects of the stifle joint) is an indication for arthroscopic exploration of the caudal pouches of the femorotibial joints of stifles in horses.
- Published
- 1992
43. Abstract: 115 IDENTIFICATION OF SUSCEPTIBILITY LOCI FOR THE LOW HDLC/CHD TRAIT
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G Peloso, M Brousseau, L.A. Cupples, D Collins, D Mirel, S. Demissie, S Gabriel, and Ernst J. Schaefer
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Genetics ,Internal Medicine ,Trait ,Susceptibility locus ,Identification (biology) ,General Medicine ,Biology ,Cardiology and Cardiovascular Medicine - Published
- 2009
- Full Text
- View/download PDF
44. What is your diagnosis? Deep fistula with possible foreign body
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J G, Peloso, F A, Nickels, and R L, Stickle
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Radiography ,Fistula ,Axilla ,Animals ,Female ,Horse Diseases ,Horses ,Foreign Bodies - Published
- 1991
45. Red cell and serum polymorphisms in the Oltrepò Pavese population (northern Italy)
- Author
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F M, Avato, G, Peloso, N, Lucarini, P, Ballarini, A, Aloia, C, Previderè, and G N, Ranzani
- Subjects
Erythrocytes ,Polymorphism, Genetic ,Gene Frequency ,Italy ,Humans ,Blood Proteins - Abstract
A sample of about 300 subjects from the Italian population of the Oltrepò Pavese, in Lombardy, was studied for 6 polymorphic genetic markers: ACP1, ADA, ESD, GLO1, PGM1 subtyping and HP. The observed gene frequencies were: ACP1*A = .267, ACP1*B = .697, ACP1*C = .036; ADA*2 = .060; ESD*2 = .119; GLO1*1 = .375; PGM1*1S = .688, PGM1*1F = .095, PGM1*2S = .175, PGM1*2F = .042; HP*1 = .362.
- Published
- 1990
46. An application of fuzzy logic to the assessment of aquifers' pollution potential
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E., Cameron, primary and G., Peloso, additional
- Published
- 2001
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47. Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification.
- Author
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P. Grignani, G. Peloso, A. Achilli, C. Turchi, A. Tagliabracci, M. Alù, G. Beduschi, U. Ricci, L. Giunti, C. Robino, S. Gino, and C. Previderè
- Abstract
Sequence variation of the hypervariable segments (HVS) I/II of mitochondrial DNA (mtDNA) and the haplogroup affiliation were determined in a sample of 271 Italian subjects. This analysis showed that 42% of the individuals could be ascribed to H, the most frequent haplogroup in European Caucasian populations. This fraction was then screened for specific single nucleotide polymorphisms located in the coding region to identify H subclades H1–H15. We set up two multiplex polymerase chain reactions and specific SNaPshot assays to investigate the frequency distribution of these subgroups in our population sample and to examine their usefulness in discriminating among commonly shared HVS I/II sequences. This allowed the assignment of a large portion of the mtDNAs (∼70%) to specific subhaplogroups, with H1 and H5 being the most represented. About two-thirds of the individuals sharing common HVS I/II sequences were subdivided and ascribed to specific H subhaplogroups with a significant reduction of the frequencies of the most common mtDNA haplotypes. Haplogroup H subtyping could thus be extremely useful in forensic identification when many samples have to be analysed and compared, avoiding excessive time-consuming and labor-intensive sequencing analysis. [ABSTRACT FROM AUTHOR]
- Published
- 2006
48. A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern
- Author
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Mika Kähönen, Norman Klopp, Moritz F. Sinner, Eimo Martens, Annamaria Iorio, Barbara Thorand, M. Juhani Junttila, Peter Lichtner, Jani T. Tikkanen, H.-Erich Wichmann, Thomas Meitinger, Christian Hengstenberg, Stefan Kääb, Martina Müller-Nurasyid, Jorma Viikari, Kimmo Porthan, Rebecca R. Cooper, Faisal M. Merchant, Gina M. Peloso, Siegfried Perz, Christa Meisinger, Sheila Ulivi, Heikki V. Huikuri, A. Catharina Brockhaus, Terho Lehtimäki, Christopher J. O'Donnell, Arto Pietilä, Britt M. Beckmann, Markku S. Nieminen, Peter A. Noseworthy, Patrick T. Ellinor, Christopher Newton-Cheh, Annette Peters, Lasse Oikarinen, Shih-Jen Hwang, Olli T. Raitakari, Paolo Gasparini, Aki S. Havulinna, Gianfranco Sinagra, Wibke Reinhard, Leo-Pekka Lyytikäinen, Veikko Salomaa, Kaisa Silander, Maarit A. Laaksonen, M. F., Sinner, K., Porthan, P. A., Noseworthy, A. S., Havulinna, J., Tikkanen, M., Müller Nurasyid, G., Peloso, S., Ulivi, B. M., Beckmann, A. C., Brockhau, R. R., Cooper, Gasparini, Paolo, C., Hengstenberg, S., Hwang, A., Iorio, M. J., Junttila, N., Klopp, M., Kähönen, M. A., Laaksonen, T., Lehtimäki, P., Lichtner, L., Lyytikäinen, E., Marten, C., Meisinger, T., Meitinger, F. M., Merchant, M. S., Nieminen, A., Peter, A., Pietilä, S., Perz, L., Oikarinen, O., Raitakari, W., Reinhard, K., Silander, B., Thorand, H., Wichmann, Sinagra, Gianfranco, J., Viikari, C. J., O'Donnell, P. T., Ellinor, H. V., Huikuri, S., Kääb, C., Newton Cheh, and V., Salomaa
- Subjects
Male ,medicine.medical_specialty ,Single-nucleotide polymorphism ,Genome-wide association study ,early repolarization ,030204 cardiovascular system & hematology ,Polymorphism, Single Nucleotide ,Article ,sudden cardiac death ,03 medical and health sciences ,Electrocardiography ,0302 clinical medicine ,Framingham Heart Study ,Heart Conduction System ,Risk Factors ,Physiology (medical) ,Internal medicine ,Genetic model ,medicine ,Humans ,Genetic Predisposition to Disease ,030304 developmental biology ,Genetic association ,0303 health sciences ,business.industry ,Arrhythmias, Cardiac ,Odds ratio ,ta3121 ,mutations ,Confidence interval ,genome-wide association ,3. Good health ,Death, Sudden, Cardiac ,Phenotype ,Meta-analysis ,Mutation ,Female ,mutation ,Cardiology and Cardiovascular Medicine ,business ,Demography ,Genome-Wide Association Study - Abstract
Background The early repolarization pattern (ERP) is common and associated with risk of sudden cardiac death. ERP is heritable, and mutations have been described in syndromatic cases. Objective To conduct a meta-analysis of genome-wide association studies to identify common genetic variants influencing ERP. Methods We ascertained ERP on the basis of electrocardiograms in 3 large community-based cohorts from Europe and the United States: the Framingham Heart Study, the Health 2000 Study, and the KORA F4 Study. We analyzed genome-wide association studies in participants with and without ERP by logistic regression assuming an additive genetic model and meta-analyzed individual cohort results. We then sought to strengthen support for findings that reached P ≤ 1 × 10 −5 in independent individuals by direct genotyping or in-silico analysis of genome-wide data. We meta-analyzed the results from both stages. Results Of 7482 individuals in the discovery stage, 452 showed ERP (ERP positive: mean age 46.9 ± 8.9 years, 30.3% women; ERP negative: 47.5 ± 9.4 years, 54.2% women). After meta-analysis, 8 single nucleotide polymorphisms reached P ≤ 1 × 10 −5 : The most significant finding was intergenic rs11653989 (odds ratio 0.47; 95% confidence interval 0.36–0.61; P = 6.9 × 10 −9 ). The most biologically relevant finding was intronic to KCND3: rs17029069 (odds ratio 1.46; 95% confidence interval 1.25–1.69; P = 8.5 × 10 −7 ). In the replication step (7151 individuals), none of the 8 variants replicated, and combined meta-analysis results failed to reach genome-wide significance. Conclusions In a genome-wide association study, we were not able to reliably identify genetic variants predisposing to ERP, presumably due to insufficient statistical power and phenotype heterogeneity. The reported heritability of ERP warrants continued investigation in larger well-phenotyped populations.
- Published
- 2012
49. Comparison of methods for building polygenic scores for diverse populations.
- Author
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Gunn S, Wang X, Posner DC, Cho K, Huffman JE, Gaziano M, Wilson PW, Sun YV, Peloso G, and Lunetta KL
- Abstract
Polygenic scores (PGSs) are a promising tool for estimating individual-level genetic risk of disease based on the results of genome-wide association studies (GWASs). However, their promise has yet to be fully realized because most currently available PGSs were built with genetic data from predominantly European-ancestry populations, and PGS performance declines when scores are applied to target populations different from the populations from which they were derived. Thus, there is a great need to improve PGS performance in currently under-studied populations. In this work we leverage data from two large and diverse cohorts the Million Veterans Program (MVP) and All of Us (AoU), providing us the unique opportunity to compare methods for building PGSs for multi-ancestry populations across multiple traits. We build PGSs for five continuous traits and five binary traits using both multi-ancestry and single-ancestry approaches with popular Bayesian PGS methods and both MVP META GWAS results and population-specific GWAS results from the respective African, European, and Hispanic MVP populations. We evaluate these scores in three AoU populations genetically similar to the respective African, Admixed American, and European 1000 Genomes Project superpopulations. Using correlation-based tests, we make formal comparisons of the PGS performance across the multiple AoU populations. We conclude that approaches that combine GWAS data from multiple populations produce PGSs that perform better than approaches that utilize smaller single-population GWAS results matched to the target population, and specifically that multi-ancestry scores built with PRS-CSx outperform the other approaches in the three AoU populations., Competing Interests: Declaration of interests The authors declare no competing interests., (Published by Elsevier Inc.)
- Published
- 2024
- Full Text
- View/download PDF
50. Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification.
- Author
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de Vries PS, Conomos MP, Singh K, Nicholson CJ, Jain D, Hasbani NR, Jiang W, Lee S, Lino Cardenas CL, Lutz SM, Wong D, Guo X, Yao J, Young EP, Tcheandjieu C, Hilliard AT, Bis JC, Bielak LF, Brown MR, Musharoff S, Clarke SL, Terry JG, Palmer ND, Yanek LR, Xu H, Heard-Costa N, Wessel J, Selvaraj MS, Li RH, Sun X, Turner AW, Stilp AM, Khan A, Newman AB, Rasheed A, Freedman BI, Kral BG, McHugh CP, Hodonsky C, Saleheen D, Herrington DM, Jacobs DR Jr, Nickerson DA, Boerwinkle E, Wang FF, Heiss G, Jun G, Kinney GL, Sigurslid HH, Doddapaneni H, Hall IM, Bensenor IM, Broome J, Crapo JD, Wilson JG, Smith JA, Blangero J, Vargas JD, Mosquera JV, Smith JD, Viaud-Martinez KA, Ryan KA, Young KA, Taylor KD, Lange LA, Emery LS, Bittencourt MS, Budoff MJ, Montasser ME, Yu M, Mahaney MC, Mahamdeh MS, Fornage M, Franceschini N, Lotufo PA, Natarajan P, Wong Q, Mathias RA, Gibbs RA, Do R, Mehran R, Tracy RP, Kim RW, Nelson SC, Damrauer SM, Kardia SLR, Rich SS, Fuster V, Napolioni V, Zhao W, Tian W, Yin X, Min YI, Manning AK, Peloso G, Kelly TN, O'Donnell CJ, Morrison AC, Curran JE, Zapol WM, Bowden DW, Becker LC, Correa A, Mitchell BD, Psaty BM, Carr JJ, Pereira AC, Assimes TL, Stitziel NO, Hokanson JE, Laurie CA, Rotter JI, Vasan RS, Post WS, Peyser PA, Miller CL, and Malhotra R
- Abstract
Coronary artery calcification (CAC) is a measure of atherosclerosis and a well-established predictor of coronary artery disease (CAD) events. Here we describe a genome-wide association study (GWAS) of CAC in 22,400 participants from multiple ancestral groups. We confirmed associations with four known loci and identified two additional loci associated with CAC ( ARSE and MMP16 ), with evidence of significant associations in replication analyses for both novel loci. Functional assays of ARSE and MMP16 in human vascular smooth muscle cells (VSMCs) demonstrate that ARSE is a promoter of VSMC calcification and VSMC phenotype switching from a contractile to a calcifying or osteogenic phenotype. Furthermore, we show that the association of variants near ARSE with reduced CAC is likely explained by reduced ARSE expression with the G allele of enhancer variant rs5982944. Our study highlights ARSE as an important contributor to atherosclerotic vascular calcification, and a potential drug target for vascular calcific disease., Competing Interests: Bruce M. Psaty serves on the Steering Committee of the Yale Open Data Access Project funded by Johnson & Johnson. Leslie S. Emery is now an employee of Celgene/Bristol Myers Squibb. Celgene/Bristol Myers Squibb had no role in the funding, design, conduct, or interpretation of this study. Nathan O. Stitziel has received research funding from Regeneron Pharmaceuticals, unrelated to this work. Karine A. Viaud-Martinez is an employee at Illumina Inc. Ryan W. Kim is an employee at Psomagen Inc. Roxona Mehran reports institutional research grants from Abbott Laboratories, Abiomed, Applied Therapeutics, AstraZeneca, Bayer, Beth Israel Deaconess, Bristol-Myers Squibb, CERC, Chiesi, Concept Medical, CSL Behring, DSI, Medtronic, Novartis Pharmaceuticals, OrbusNeich; consultant fees from Abbott Laboratories, Boston Scientific, CardiaWave, Chiesi, Janssen Scientific Affairs, Medscape/WebMD, Medtelligence (Janssen Scientific Affairs), Roivant Sciences, Sanofi, Siemens Medical Solutions; consultant fees paid to the institution from Abbott Laboratories, Bristol-Myers Squibb; advisory board, funding paid to the institution from Spectranetics/Philips/Volcano Corp; consultant (spouse) from Abiomed, The Medicines Company, Merck; Equity <1% from Claret Medical, Elixir Medical; DSMB Membership fees paid to the institution from Watermark Research Partners; consulting (no fee) from Idorsia Pharmaceuticals Ltd., Regeneron Pharmaceuticals; Associate Editor for ACC, AMA. Rajeev Malhotra is a consultant for MyoKardia (now owned by BMS), Epizon Pharma, Renovacor, and Third Pole, a co-founder of Patch and Angea Biotherapeutics, and has received research funding from Angea Biotherapeutics, Bayer Pharmaceuticals, and Amgen. Adrienne M. Stilp receives funding from Seven Bridges Genomics to develop tools for the NHLBI BioData Catalyst consortium. Pradeep Natarajan reports grants from Amgen, Apple, Boston Scientific, AstraZeneca, Allelica, Novartis, and Genentech, consulting income from GV, Blackstone Life Sciences, Foresite Labs, Apple, AstraZeneca, Allelica, Novartis, HeartFlow, and Genentech, is a scientific advisor to Esperion Therapeutics, Preciseli, and TenSixteen Bio, is a scientific co-founder of TenSixteen Bio, and spousal employment at Vertex, all unrelated to the present work. Clint L. Miller received a research grant from AstraZeneca for an unrelated project. The remaining authors declare no competing interests.
- Published
- 2023
- Full Text
- View/download PDF
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