bluuebunny/crossref_metadata_2025_split huggingface dataset:
Coding Gene SNP Mapping Reveals QTL Linked to Growth and Stress Response in Brook Charr (Salvelinus fontinalis)
Authors: Sauvage Christopher , Vagner Marie , Derôme Nicolas , Audet Céline , Bernatchez Louis 
Published: June 2012

AbstractGrowth performance and reduced stress response are traits of major interest in fish production. Growth and stress-related quantitative trait loci (QTL) have been already identified in several salmonid species, but little effort has been devoted to charrs (genus Salvelinus). Moreover, most QTL studies to date focused on one or very few traits, and little investigation has been devoted to QTL identification for gene expression. Here, our objective was to identify QTL for 27 phenotypes related to growth and stress responses in brook charr (Salvelinus fontinalis), which is one of the most economically important freshwater aquaculture species in Canada. Phenotypes included 12 growth parameters, six blood and plasma variables, three hepatic variables, and one plasma hormone level as well as the relative expression measurements of five genes of interest linked to growth regulation. QTL analysis relied on a linkage map recently built from S. fontinalis consisting of both single-nucleotide polymorphism (SNP, n = 266) and microsatellite (n =81) markers in an F2 interstrain hybrid population (n = 171). We identified 63 growth-related QTL and four stress-related QTL across 18 of the 40 linkage groups of the brook charr linkage map. Percent variance explained, confidence interval, and allelic QTL effects also were investigated to provide insight into the genetic architecture of growth- and stress-related QTL. QTL related to growth performance and stress response that were identified could be classified into two groups: (1) a group composed of the numerous, small-effect QTL associated with some traits related to growth (i.e., weight) that may be under the control of a large number of genes or pleiotropic genes, and (2) a group of less numerous QTL associated with growth (i.e., gene expression) and with stress-related QTL that display a larger effect, suggesting that these QTL are under the control of a limited number of genes of major effect. This study represents a first step toward the identification of genes potentially linked to phenotypic variation of growth and stress response in brook charr. The ultimate goal is to provide new tools for developing Molecular Assisted Selection for this species.
Type-I Prenyl Protease Function Is Required in the Male Germline ofDrosophila melanogaster
Authors: Adolphsen Katie , Amell Amanda , Havko Nathan , Kevorkian Sara , Mears Kyle , Neher Hayley , Schwarz Dietmar , Schulze Sandra R 
Published: June 2012

AbstractMany proteins require the addition of a hydrophobic prenyl anchor (prenylation) for proper trafficking and localization in the cell. Prenyl proteases play critical roles in modifying proteins for membrane anchorage. The type I prenyl protease has a defined function in yeast (Ste24p/Afc1p) where it modifies a mating pheromone, and in humans (Zmpste24) where it has been implicated in a disease of premature aging. Despite these apparently very different biological processes, the type I prenyl protease gene is highly conserved, encoded by a single gene in a wide range of animal and plant groups. A notable exception is Drosophila melanogaster, where the gene encoding the type I prenyl protease has undergone an unprecedented series of duplications in the genome, resulting in five distinct paralogs, three of which are organized in a tandem array, and demonstrate high conservation, particularly in the vicinity of the active site of the enzyme. We have undertaken targeted deletion to remove the three tandem paralogs from the genome. The result is a male fertility defect, manifesting late in spermatogenesis. Our results also show that the ancestral type I prenyl protease gene in Drosophila is under strong purifying selection, while the more recent replicates are evolving rapidly. Our rescue data support a role for the rapidly evolving tandem paralogs in the male germline. We propose that potential targets for the male-specific type I prenyl proteases include proteins involved in the very dramatic cytoskeletal remodeling events required for spermatid maturation.
Oligoarray Comparative Genomic Hybridization-Mediated Mapping of Suppressor Mutations Generated in a Deletion-Biased Mutagenesis Screen
Authors: Jones Martin R , Rose Ann M , Baillie David L 
Published: June 2012

Abstract
Suppressor screens are an invaluable method for identifying novel genetic interactions between genes in the model organism Caenorhabditis elegans. However, traditionally this approach has suffered from the laborious and protracted process of mapping mutations at the molecular level. Using a mutagen known to generate small deletions, coupled with oligoarray comparative genomic hybridization (aCGH), we have identified mutations in two genes that suppress the lethality associated with a mutation of the essential receptor tyrosine kinase rol-3. First, we find that deletion of the Bicaudal-C ortholog, bcc-1, suppresses rol-3–associated lethality. Second, we identify several duplications that also suppress rol-3–associated lethality. We establish that overexpression of srap-1, a single gene present in these duplications, mediates the suppression. This study demonstrates the suitability of deletion-biased mutagenesis screening in combination with aCGH characterization for the rapid identification of novel suppressor mutations. In addition to detecting small deletions, this approach is suitable for identifying copy number suppressor mutations, a class of suppressor not easily characterized using alternative approaches.
Haplotype Association Mapping Identifies a Candidate Gene Region in Mice Infected WithStaphylococcus aureus
Authors: Johnson Nicole V , Ahn Sun Hee , Deshmukh Hitesh , Levin Mikhail K , Nelson Charlotte L , Scott William K , Allen Andrew , Fowler Vance G , Cowell Lindsay G 
Published: June 2012

AbstractExposure to Staphylococcus aureus has a variety of outcomes, from asymptomatic colonization to fatal infection. Strong evidence suggests that host genetics play an important role in susceptibility, but the specific host genetic factors involved are not known. The availability of genome-wide single nucleotide polymorphism (SNP) data for inbred Mus musculus strains means that haplotype association mapping can be used to identify candidate susceptibility genes. We applied haplotype association mapping to Perlegen SNP data and kidney bacterial counts from Staphylococcus aureus-infected mice from 13 inbred strains and detected an associated block on chromosome 7. Strong experimental evidence supports the result: a separate study demonstrated the presence of a susceptibility locus on chromosome 7 using consomic mice. The associated block contains no genes, but lies within the gene cluster of the 26-member extended kallikrein gene family, whose members have well-recognized roles in the generation of antimicrobial peptides and the regulation of inflammation. Efficient mixed-model association (EMMA) testing of all SNPs with two alleles and located within the gene cluster boundaries finds two significant associations: one of the three polymorphisms defining the associated block and one in the gene closest to the block, Klk1b11. In addition, we find that 7 of the 26 kallikrein genes are differentially expressed between susceptible and resistant mice, including the Klk1b11 gene. These genes represent a promising set of candidate genes influencing susceptibility to Staphylococcus aureus.
Chromosomal Organization and Sequence Diversity of Genes Encoding Lachrymatory Factor Synthase in Allium cepa L.
Authors: Masamura Noriya , McCallum John , Khrustaleva Ludmila , Kenel Fernand , Pither-Joyce Meegham , Shono Jinji , Suzuki Go , Mukai Yasuhiko , Yamauchi, Naoki , Shigyo Masayoshi 
Published: June 2012

Abstract
Lachrymatory factor synthase (LFS) catalyzes the formation of lachrymatory factor, one of the most distinctive traits of bulb onion (Allium cepa L.). Therefore, we used LFS as a model for a functional gene in a huge genome, and we examined the chromosomal organization of LFS in A. cepa by multiple approaches. The first-level analysis completed the chromosomal assignment of LFS gene to chromosome 5 of A. cepa via the use of a complete set of A. fistulosum–shallot (A. cepa L. Aggregatum group) monosomic addition lines. Subsequent use of an F2 mapping population from the interspecific cross A. cepa × A. roylei confirmed the assignment of an LFS locus to this chromosome. Sequence comparison of two BAC clones bearing LFS genes, LFS amplicons from diverse germplasm, and expressed sequences from a doubled haploid line revealed variation consistent with duplicated LFS genes. Furthermore, the BAC-FISH study using the two BAC clones as a probe showed that LFS genes are localized in the proximal region of the long arm of the chromosome. These results suggested that LFS in A. cepa is transcribed from at least two loci and that they are localized on chromosome 5.
Periodontal and Systemic Responses in Various Mice Models of Experimental Periodontitis: Respective Roles of Inflammation Duration and Porphyromonas gingivalis Infection
Authors: Saadi‐Thiers Kenza , Huck Olivier , Simonis Pierre , Tilly Peggy , Fabre Jean‐Etienne , Tenenbaum Henri , Davideau Jean‐Luc 
Published: June 2012

Background: The great variability of periodontal and systemic responses to experimental periodontitis reflects the inherent pathogenic complexity of mice models and could limit the resulting interpretations and their extension to human diseases. This study compared the effect of Porphyromonas gingivalis (Pg) infection and experimental periodontitis duration at local and systemic levels in various models.Methods: Periodontitis was induced in C57BL/6J mice by ligatures previously incubated with Pg (LIGPG group) or not (LIG group) or by oral gavage (GAV) with Pg ATCC 33277. Blood samples were taken, and mice were euthanized at different times. Periodontal tissue destruction, osteoclast number, and inflammation were assessed by histomorphometry, tartrate‐resistant acid phosphatase histoenzymology, and cathepsin B (CATB) and matrix metalloproteinase 9 (MMP9) immunochemistry. Serum levels of interleukin‐6 (IL‐6) and IL‐1β were measured using enzyme‐linked immunosorbent assay bioplex methods.Results: Periodontal tissue destruction and osteoclast numbers were significantly elevated in LIGPG models compared to LIG and GAV models. They increased with time with the exception of osteoclast numbers in the LIG model. CATB and MMP9 expression was related to bone destruction processes and Pg infection. The highest serum levels of IL‐6 and IL‐1β were observed in the LIGPG group. A decrease of IL‐6 and an increase of IL‐1β serum level were observed with time in LIGPG group contrary to LIG group.Conclusions: These data indicate that Pg infection worsened periodontal tissue destruction through specific pathogenic pathways and modified systemic response to periodontal inflammation. Furthermore, the blood cytokine response to ligature models showed their relevance for evaluating the systemic impact of periodontal disease.
Importance of Preoperative Imaging in Acetabular Revision Surgery - A Case Report
Authors: Schmitz HC , Egidy CC , Al-Khateeb H , Cárdenas G , Gehrke T , Kendoff D 
Published: June 2012

Acetabular defects, particularly as a result of protrusion of acetabular components into the hemipelvis, may cause serious complications during revision procedures as a result of iatrogenic injury to surrounding anatomical structures. In these challenging cases, we advocate the utilisation of preoperative three dimensional imaging. MRI and CT- imaging offer superior understanding of the three-dimensional quality of bony defects and the relationship of implants to important anatomical structures. Appropriate preoperative planning may also prevent major complications during the removal of the pre-existing hardware, prior to re-implantation of implants. Potential complications include injury of nerves, blood vessels and other intrapelvic structures.In our case, a major bony defect of the acetabulum was a result of the protrusion of an implanted reinforcement ring. A preoperative, contrast-enhanced CT scan showed that the urethra was in close proximity to the hook of the reinforcement ring.The preoperative imaging aided in identifying and understanding the potential complications that could occur intraoperatively. Additionally, it delineated the intact anatomic structures prior to surgery, which could have medico-legal implications.The importance of preoperative imaging and the existing literature is discussed within this case description.
Comparative Effects of Low-Carbohydrate High-Protein Versus Low-Fat Diets on the Kidney
Authors: Friedman Allon N. , Ogden Lorraine G. , Foster Gary D. , Klein Samuel , Stein Richard , Miller Bernard , Hill James O. , Brill Carrie , Bailer Brooke , Rosenbaum Diane R. , Wyatt Holly R. 
Published: June 2012

Summary

Background and objectives
Concerns exist about deleterious renal effects of low-carbohydrate high-protein weight loss diets. This issue was addressed in a secondary analysis of a parallel randomized, controlled long-term trial.

Design, setting, participants, and measurements
Between 2003 and 2007, 307 obese adults without serious medical illnesses at three United States academic centers were randomly assigned to a low-carbohydrate high-protein or a low-fat weight-loss diet for 24 months. Main outcomes included renal filtration (GFR) indices (serum creatinine, cystatin C, creatinine clearance); 24-hour urinary volume; albumin; calcium excretion; and serum solutes at 3, 12, and 24 months.

Results
Compared with the low-fat diet, low-carbohydrate high-protein consumption was associated with minor reductions in serum creatinine (relative difference, −4.2%) and cystatin C (−8.4%) at 3 months and relative increases in creatinine clearance at 3 (15.8 ml/min) and 12 (20.8 ml/min) months; serum urea at 3 (14.4%), 12 (9.0%), and 24 (8.2%) months; and 24-hour urinary volume at 12 (438 ml) and 24 (268 ml) months. Urinary calcium excretion increased at 3 (36.1%) and 12 (35.7%) months without changes in bone density or clinical presentations of new kidney stones.

Conclusions
In healthy obese individuals, a low-carbohydrate high-protein weight-loss diet over 2 years was not associated with noticeably harmful effects on GFR, albuminuria, or fluid and electrolyte balance compared with a low-fat diet. Further follow-up is needed to determine even longer-term effects on kidney function.
Mutagenicity and cytotoxicity in patients submitted to ionizing radiation
Authors: Lorenzoni Diego Coelho , Fracalossi Ana Carolina Cuzzuol , Carlin Viviane , Ribeiro Daniel Araki , Sant'Anna Eduardo Franzotti 
Published: June 2012

Abstract

Objectives:
To evaluate and compare mutagenicity (micronucleus) and cytotoxicity (karyorrhexis, pyknosis, and karyolysis) in exfoliated buccal mucosa cells of children following cone beam computed tomography (CBCT) or conventional radiograph exposure necessary for orthodontic planning.

Materials and Methods:
A total of 49 healthy children were submitted to CBCT or a conventional orthodontic radiographic protocol; they were divided into two groups based on exam: CBCT (n  =  24) and Radiographic Set (n  =  25) groups. The micronucleus test in the exfoliated buccal mucosa cells was applied.

Results:
There was not a statistically significant difference (P &gt; .05) found between the number of micronucleated buccal mucosa cells (MNC) before and after exposure to radiation in either group, showing that neither group experienced a mutagenic effect. However, radiation did cause other nuclear alterations closely related to cytotoxicity, including karyorrhexis, pyknosis, and karyolysis, in both groups (P &lt; .05). The CBCT group presented a greater increase in cell death than was noted in the Radiographic Set group (P &lt; .044).

Conclusion:
According to the micronucleus test, mutagenicity was not induced by the CBCT or the conventional radiographs, but cytotoxicity was verified after these exams, especially after CBCT. That might have happened once the CBCT group received a greater radiation dose than the Radiographic Set group as a result of the protocols used in orthodontic planning for this study.
Evaluation of Chlamydophila psittaci infection and other risk factors for atherosclerosis in pet psittacine birds
Authors: Pilny Anthony A. , Quesenberry Katherine E. , Bartick-Sedrish Tracey E. , Latimer Kenneth S. , Berghaus Roy D. 
Published: June 2012

Abstract
Objective—To determine whether the presence of Chlamydophila psittaci antigen, plasma cholesterol concentration, diet, sex, species, and age are risk factors for the development of atherosclerosis in pet psittacine birds.
Design—Retrospective case-control study.
Animals—31 psittacine birds with atherosclerosis (study birds) and 31 psittacine birds without atherosclerosis (control birds).
Procedures—Necropsy reports were reviewed, birds with a histopathologic diagnosis of atherosclerosis were identified, and available medical records were reviewed. Signalment, history, clinicopathologic findings, and other relevant data were recorded and evaluated. Control birds did not have atherosclerosis and were chosen by both convenience sampling and population demographics. Histologic sections of great vessels from all birds (study and control birds) were reviewed and then submitted for immunohistochemical staining for the presence of C psittaci antigen.
Results—Result of immunohistochemical staining for C psittaci antigen in blood vessels was significantly associated with atherosclerosis. After adjusting for age, species origin, and type of illness, the odds of atherosclerosis was 7 times as high for birds with positive immunohistochemical staining for C psittaci antigen, compared with that of birds with negative immunohistochemical staining. Study birds and control birds differed significantly only with respect to plasma cholesterol concentrations. The median plasma cholesterol concentration of study birds (421 mg/dL) was significantly higher than that of control birds (223 mg/dL).
Conclusions and Clinical Relevance—Infection with C psittaci and a high plasma cholesterol concentration may be risk factors for developing atherosclerosis in pet psittacine birds.
Surgical and postoperative complications associated with tibial tuberosity advancement for cranial cruciate ligament rupture in dogs: 458 cases (2007–2009)
Authors: Wolf Rebecca E. , Scavelli Thomas D. , Hoelzler Michael G. , Fulcher Ryan P. , Bastian Richard P. 
Published: June 2012

Abstract
Objective—To describe the surgical and postoperative complications encountered with tibial tuberosity advancement (TTA) performed in dogs with cranial cruciate ligament–deficient stifle joints.
Design—Retrospective case series.
Animals—458 dogs (TTA performed on 501 stifle joints).
Procedures—During the 2-year period, 624 TTA procedures had been performed in dogs for correction of cranial cruciate ligament deficiency. Five hundred one stifle joints in 458 dogs fit the criteria for inclusion; 43 dogs had had TTAs performed on both stifle joints. Historical data and complications reported were analyzed.
Results—Following 501 TTA surgeries, there were 95 instances of complications reported. In 7 stifle joints, 2 complications occurred. The most common complication was incisional infection and inflammation. Stifle joints with medial menisci that did not undergo medial meniscal release had a high incidence of subsequent injury, and meniscal tear was the most common complication treated by a second surgery. A partially torn cranial cruciate ligament left in situ at the time of TTA did not protect against subsequent injury of an intact, unreleased medial meniscus. Most fractures were identified on routine follow-up radiography and were rarely treated. In terms of preoperative factors, high body weight (> 40 kg [88 lb]) and a high preoperative patellar tendon angle were significantly associated with complications.
Conclusions and Clinical Relevance—High body weight and preoperative patellar tendon angle were significantly associated with complications following TTA in dogs. Subsequent meniscal tear was the most common reason for second surgery, suggesting that medial meniscal release of intact menisci should be considered when performing TTA in dogs.
Risk factors for colic in equids hospitalized for ocular disease
Authors: Patipa Leah A. , Sherlock Ceri E. , Witte Stefan H. , Pirie George D. , Berghaus Roy D. , Peroni John F. 
Published: June 2012

Abstract
Objective—To evaluate the incidence of colic and risk factors for colic in equids hospitalized for ocular disease.
Design—Retrospective observational study.
Animals—337 equids (317 horses, 19 ponies, and 1 donkey) hospitalized for ocular disease.
Procedures—Medical records of equids hospitalized for > 24 hours for treatment of ocular disease between January 1997 and December 2008 were reviewed. Information from only the first hospitalization was used for equids that were hospitalized for ocular disease on more than 1 occasion. Information gathered included the signalment, the type of ocular lesion and the treatment administered, and any colic signs recorded during hospitalization as well as the severity, presumptive diagnosis, and treatment of the colic. Statistical analysis was used to identify any risk factors for colic in equids hospitalized for ocular disease.
Results—72 of 337 (21.4%) equids hospitalized for ocular disease had signs of colic during hospitalization. Most equids (59.7% [43/72]) had mild signs of colic, and most (87.5% [63/72]) were treated medically. Ten of 72 (13.9%) equids with colic had a cecal impaction. Risk factors for colic in equids hospitalized for ocular disease were age (0 to 1 year and ≥ 21 years) and an increased duration of hospitalization (≥ 8 days).
Conclusions and Clinical Relevance—There was a high incidence of colic in equids hospitalized with ocular disease in this study. Findings from this study may help identify equids at risk for development of colic and thereby help direct implementation of prophylactic measures.
Diagnosis and surgical treatment of an intracranial cyst in an alpaca cria
Authors: Hardefeldt Laura A. , Rylander Helena , Iskandar B. J. , Ellison M. , Peek Simon F. 
Published: June 2012

Abstract
Case Description—A 7-day-old female alpaca was examined because of an acute onset of diffuse central neurologic deficits.
Clinical Findings—Diagnostic imaging with CT and MRI identified an intracranial cyst occupying approximately one-third to one-half of the dorsal portion of the cranial cavity, markedly displacing the cerebral hemispheres bilaterally.
Treatment and Outcome—Initial surgical management via trephination and needle drainage was only transiently effective at resolving the neurologic signs. Craniotomy and drainage and removal of the cyst lining resulted in a sustained improvement in neurologic status, and the cria remained clinically normal and well grown at follow-up 5 months after surgery.
Clinical Relevance—This report represented the first description of the successful treatment of an intracranial cyst in a New World camelid.
Managing Physical Therapy Resources: An Analogy to the Freedom of the Commons and the Need for Collective Action
Authors: Brennan Gerard P. 
Published: June 2012

Tragedy results when we each pursue our own best interest in a society that believes in the freedom of a commons, such as clean air, fresh water, or natural fishing grounds. The purpose of this editorial is to consider how resources related to healthcare, and specifically to the delivery of physical therapy, can suffer the tragedy of the commons, and to consider an alternative strategy by which we can manage physical therapy resources effectively through collective action. J Orthop Sports Phys Ther 2012;42(6):486–488. doi:10.2519/jospt.2012.0108