bluuebunny/crossref_metadata_2025_split huggingface dataset:
Upper extremity compartment syndrome after minor trauma: an imperative for increased vigilance for a rare, but limb-threatening complication
Authors: Seigerman Daniel A , Choi Daniel , Donegan Derek J , Yoon Richard S , Liporace Frank A 
Published: February 2013

Abstract

Background
Compartment syndrome of any extremity is a limb-threatening emergency requiring an emergent surgical management. Thus, ruling out compartment syndrome is often high on the list of priorities when treating high-energy injuries and fractures. However, even in the most seemingly benign injuries, this dangerous diagnosis must always remain on the differential and suspicion must remain high.

Case presentation
23-year-old factory worker presents after a low energy entrapment injury to his left forearm. Initial work-up and evaluation noted an isolated radial head dislocation with a normal physical motor and sensory exam. However, maintaining high suspicion for compartment syndrome despite serial normal physical exams, led objective compartment pressure measurement leading to definitive diagnosis. Emergent surgical intervention via compartment fasciotomies was performed, along with closed reduction and ligament repair. At 1 year follow-up, the patient was well-healed, back to work with full range of motion and not activity limitations.

Conclusion
Despite a seemingly benign injury pattern, and a relatively low energy mechanism, vigilant concern for compartment syndrome following any kind of entrapment injury should initiate serial examinations and compartment pressure measurements especially in circumstances with continued swelling and inability to perform an accurate clinical assessment due to an obtunded or medicated patient.
Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes
Authors: Esteves Lisa M , Bulhões Sara M , Brilhante Maria J , Mota-Vieira Luisa 
Published: February 2013

Abstract

Background
Innate immune system is the first line of research when studying immune response to diverse infections and autoimmune/inflammatory diseases. This immune response has been reported to be genetically diverse, due to polymorphisms coded by different genes. For this reason, our purpose was to develop a multiplex assay that allows the genotyping of candidate single nucleotide polymorphisms (SNPs) in innate immune genes.

Findings
We developed three multiplex PCR panels coupled with the minisequencing (SNaPshot) technique (multiplex PCR, multiplex primer extension, and capillary electrophoresis). The panels were tested in a sample set composed of 100 anonymous DNAs from healthy blood donors living in São Miguel Island (Azores, Portugal). Sixteen relevant SNPs among nine genes of the innate immune system – IL1α, IL1β, IL6, IL10, IL12RB1, TLR2, TLR4, TLR9 and CD14 – were genotyped and validated by direct sequencing, with the exception of one that was undetected by minisequencing. We suggest that these panels can be used in future studies for detection of risk gene variants in several populations and/or diseases.

Conclusions
In summary, we propose a multiplex assay that is able to identify the most frequent candidate SNPs in innate immune genes, using a medium scale genotyping platform. The assays can be used to evaluate the risk gene variants in populations of various geographic origins.
Hybridization between two cestode species and its consequences for intermediate host range
Authors: Henrich Tina , Benesh Daniel P , Kalbe Martin 
Published: February 2013

Abstract

Background
Many parasites show an extraordinary degree of host specificity, even though a narrow range of host species reduces the likelihood of successful transmission. In this study, we evaluate the genetic basis of host specificity and transmission success of experimental F1 hybrids from two closely related tapeworm species (Schistocephalus solidus and S. pungitii), both highly specific to their respective vertebrate second intermediate hosts (three- and nine-spined sticklebacks, respectively).

Methods
We used an in vitro breeding system to hybridize Schistocephalus solidus and S. pungitii; hybridization rate was quantified using microsatellite markers. We measured several fitness relevant traits in pure lines of the parental parasite species as well as in their hybrids: hatching rates, infection rates in the copepod first host, and infection rates and growth in the two species of stickleback second hosts.

Results
We show that the parasites can hybridize in the in vitro system, although the proportion of self-fertilized offspring was higher in the heterospecific breeding pairs than in the control pure parental species. Hybrids have a lower hatching rate, but do not show any disadvantages in infection of copepods. In fish, hybrids were able to infect both stickleback species with equal frequency, whereas the pure lines were only able to infect their normal host species.

Conclusions
Although not yet documented in nature, our study shows that hybridization in Schistocephalus spp. is in principle possible and that, in respect to their expanded host range, the hybrids are fitter. Further studies are needed to find the reason for the maintenance of the species boundaries in wild populations.
Insulin and insulin-like growth factor signaling increases proliferation and hyperplasia of the ovarian surface epithelium and decreases follicular integrity through upregulation of the PI3-kinase pathway
Authors: King Shelby M , Modi Dimple A , Eddie Sharon L , Burdette Joanna E 
Published: February 2013

Abstract

Background
The ovarian surface epithelium responds to cytokines and hormonal cues to initiate proliferation and migration following ovulation. Although insulin and IGF are potent proliferative factors for the ovarian surface epithelium and IGF is required for follicle development, increased insulin and IGF activity are correlated with at least two gynecologic conditions: polycystic ovary syndrome and epithelial ovarian cancer. Although insulin and IGF are often components of in vitro culture media, little is known about the effects that these growth factors may have on the ovarian surface epithelium morphology or how signaling in the ovarian surface may affect follicular health and development.

Methods
Ovaries from CD1 mice were cultured in alginate hydrogels in the presence or absence of 5 μg/ml insulin or IGF-I, as well as small molecule inhibitors of IR/IGF1R, PI 3-kinase signaling, or MAPK signaling. Tissues were analyzed by immunohistochemistry for expression of cytokeratin 8 to mark the ovarian surface epithelium, Müllerian inhibiting substance to mark secondary follicles, and BrdU incorporation to assess proliferation. Changes in gene expression in the ovarian surface epithelium in response to insulin or IGF-I were analyzed by transcription array. Extracellular matrix organization was evaluated by expression and localization of collagen IV.

Results
Culture of ovarian organoids with insulin or IGF-I resulted in formation of hyperplastic OSE approximately 4–6 cell layers thick with a high rate of proliferation, as well as decreased MIS expression in secondary follicles. Inhibition of the MAPK pathway restored MIS expression reduced by insulin but only partially restored normal OSE growth and morphology. Inhibition of the PI 3-kinase pathway restored MIS expression reduced by IGF-I and restored OSE growth to a single cell layer. Insulin and IGF-I altered organization of collagen IV, which was restored by inhibition of PI 3-kinase signaling.

Conclusions
While insulin and IGF are often required for propagation of primary cells, these cytokines may act as potent mitogens to disrupt cell growth, resulting in formation of hyperplastic OSE and decreased follicular integrity as measured by MIS expression and collagen deposition. This may be due partly to altered collagen IV deposition and organization in the ovary in response to insulin and IGF signaling mediated by PI 3-kinase.
Massive edema of ovary with cytogenetic alteration of chromosome 12q13-15 in adolescent patient: a case report
Authors: De Cecio Rossella , Cantile Monica , Fortunato Nicola , De Chiara Annarosaria , Losito Nunzia Simona , Franco Renato , Botti Gerardo 
Published: February 2013

Abstract

Background
The massive edema of ovary, with or without fibromatosis, is a rare tumor-like entity characterized by an increase in volume of one or both ovaries for accumulation of edema fluid in the stroma that separates the follicular structures.

Case
We report a rare case, very peculiar also for its association with a massive stromal fibromatosis and for the presence, never described, of tumoral areas with CHOP gene translocation, on chromosome 12q13–15.
Improvement of the Oryza sativa Nipponbare reference genome using next generation sequence and optical map data
Authors: Kawahara Yoshihiro , de la Bastide Melissa , Hamilton John P , Kanamori Hiroyuki , McCombie W Richard , Ouyang Shu , Schwartz David C , Tanaka Tsuyoshi , Wu Jianzhong , Zhou Shiguo , Childs Kevin L , Davidson Rebecca M , Lin Haining , Quesada-Ocampo Lina , Vaillancourt Brieanne , Sakai Hiroaki , Lee Sung Shin , Kim Jungsok , Numa Hisataka , Itoh Takeshi , Buell C Robin , Matsumoto Takashi 
Published: February 2013

Abstract

Background
Rice research has been enabled by access to the high quality reference genome sequence generated in 2005 by the International Rice Genome Sequencing Project (IRGSP). To further facilitate genomic-enabled research, we have updated and validated the genome assembly and sequence for the Nipponbare cultivar of Oryza sativa (japonica group).

Results
The Nipponbare genome assembly was updated by revising and validating the minimal tiling path of clones with the optical map for rice. Sequencing errors in the revised genome assembly were identified by re-sequencing the genome of two different Nipponbare individuals using the Illumina Genome Analyzer II/IIx platform. A total of 4,886 sequencing errors were identified in 321 Mb of the assembled genome indicating an error rate in the original IRGSP assembly of only 0.15 per 10,000 nucleotides. A small number (five) of insertions/deletions were identified using longer reads generated using the Roche 454 pyrosequencing platform. As the re-sequencing data were generated from two different individuals, we were able to identify a number of allelic differences between the original individual used in the IRGSP effort and the two individuals used in the re-sequencing effort. The revised assembly, termed Os-Nipponbare-Reference-IRGSP-1.0, is now being used in updated releases of the Rice Annotation Project and the Michigan State University Rice Genome Annotation Project, thereby providing a unified set of pseudomolecules for the rice community.

Conclusions
A revised, error-corrected, and validated assembly of the Nipponbare cultivar of rice was generated using optical map data, re-sequencing data, and manual curation that will facilitate on-going and future research in rice. Detection of polymorphisms between three different Nipponbare individuals highlights that allelic differences between individuals should be considered in diversity studies.
Functional changes of the myocardium in survivors of high-voltage electrical injury
Authors: Park Kyoung-Ha , Han Sang Jin , Kim Hyun-Sook , Jo Sang Ho , Kim Sung-Ai , Choi Suk-Won , Kim Seong Hwan , Park Woo Jung 
Published: February 2013

Abstract
Introduction
There are limited long-term follow-up data on functional changes in the myocardium after high-voltage electrical injury (HVEI).

Methods
Twenty-three patients who had been exposed to HVEI (>20,000 volts) and preserved left ventricular ejection fraction (≥55%) were enrolled in the study. Echocardiographic parameters, including peak systolic strain (S) and strain rate (SR), were evaluated at baseline, six weeks and six months later. These data were compared with a healthy control group who were matched in terms of age, sex and body mass index.

Results
The systolic and diastolic blood pressure and the heart rate were significantly higher in the HVEI group compared with the control group at baseline and at six weeks, but not at the six-month follow-up. Conventional echocardiographic data showed no differences between the groups during the study period. In contrast to the S, the baseline and six weeks, SR was significantly increased in the HVEI group compared with the control group. However, at the six-month follow-up, there was no difference in the SR between the groups. Among the 23 patients with HVEI, 17 of the patients had vertical current injury, and 6 patients had horizontal current injury. There was no difference in terms of the conventional echocardiography, S and SR between the patients with vertical injury and those with horizontal injury at baseline and at the six-month follow-up.

Conclusions
The long-term contractile performance of the myocardium is preserved when patient do not experience left ventricular dysfunction in the early stages after HVEI.
Knockdown of RyR3 Enhances Adiponectin Expression Through an atf3-Dependent Pathway
Authors: Tsai Shu-Huei , Chang Emily Yun-Chia , Chang Yi-Cheng , Hee Siow-Wey , Tsai Yun-Chih , Chang Tien-Jyun , Chuang Lee-Ming 
Published: February 2013

Abstract
Adiponectin is an important adipose-specific protein, which possesses insulin (INS)-sensitizing, antiinflammatory, and antiatherosclerotic functions. However, its regulation remains largely unknown. In this study, we identified that ryanodine receptor (RyR)3 plays an important role in the regulation of adiponectin expression. RyR3 was expressed in 3T3-L1 preadipocytes, and its level was decreased upon adipogenesis. Silencing of RyR3 expression in 3T3-L1 preadipocytes resulted in up-regulated adiponectin promoter activity, enhanced adiponectin mRNA expression, and more adiponectin protein secreted into the medium. An inverse relation between RyR3 and adiponectin mRNA levels was also observed in adipose tissues of db/db mice. In addition, knockdown of RyR3 with small interfering RNA (siRNA) in db/db mice and high-fat diet-fed obese mice increased serum adiponectin level, improved INS sensitivity, and lowered fasting glucose levels. These effects were in parallel with decreased mitochondrial Ca2+, increased mitochondrial mass, and reduced activating transcription factor 3 (atf3) expression. Overexpression of atf3 in 3T3-L1 preadipocytes blocked the effect of RyR3 silencing on adiponectin expression, indicating that an atf3-dependent pathway mediates the effect downstream of RyR3 silencing. Our data suggest that RyR3 may be a new therapeutic target for improving INS sensitivity and related metabolic disorders.
Vitamin D Receptor in Osteoblasts Is a Negative Regulator of Bone Mass Control
Authors: Yamamoto Yoko , Yoshizawa Tatsuya , Fukuda Toru , Shirode-Fukuda Yuko , Yu Taiyong , Sekine Keisuke , Sato Takashi , Kawano Hirotaka , Aihara Ken-ichi , Nakamichi Yuko , Watanabe Tomoyuki , Shindo Masayo , Inoue Kazuki , Inoue Erina , Tsuji Naoya , Hoshino Maiko , Karsenty Gerard , Metzger Daniel , Chambon Pierre , Kato Shigeaki , Imai Yuuki 
Published: February 2013

AbstractThe physiological and beneficial actions of vitamin D in bone health have been experimentally and clinically proven in mammals. The active form of vitamin D [1α,25(OH)2D3] binds and activates its specific nuclear receptor, the vitamin D receptor (VDR). Activated VDR prevents the release of calcium from its storage in bone to serum by stimulating intestinal calcium absorption and renal reabsorption. However, the direct action of VDR in bone tissue is poorly understood because serum Ca2+ homeostasis is maintained through tightly regulated ion transport by the kidney, intestine, and bone. In addition, conventional genetic approaches using VDR knockout (VDR-KO, VDR−/−) mice could not identify VDR action in bone because of the animals' systemic defects in calcium metabolism. In this study, we report that systemic VDR heterozygous KO (VDR+/L−) mice generated with the Cre/loxP system as well as conventional VDR heterozygotes (VDR+/−) showed increased bone mass in radiological assessments. Because mineral metabolism parameters were unaltered in both types of mice, these bone phenotypes imply that skeletal VDR plays a role in bone mass regulation. To confirm this assumption, osteoblast-specific VDR-KO (VDRΔOb/ΔOb) mice were generated with 2.3 kb α1(I)-collagen promoter-Cre transgenic mice. They showed a bone mass increase without any dysregulation of mineral metabolism. Although bone formation parameters were not affected in bone histomorphometry, bone resorption was obviously reduced in VDRΔOb/ΔOb mice because of decreased expression of receptor activator of nuclear factor kappa-B ligand (an essential molecule in osteoclastogenesis) in VDRΔOb/ΔOb osteoblasts. These findings establish that VDR in osteoblasts is a negative regulator of bone mass control.
Glucocorticoid Programming of the Fetal Male Hippocampal Epigenome
Authors: Crudo Ariann , Suderman Matthew , Moisiadis Vasilis G. , Petropoulos Sophie , Kostaki Alisa , Hallett Michael , Szyf Moshe , Matthews Stephen G. 
Published: February 2013

AbstractThe late-gestation surge in fetal plasma cortisol is critical for maturation of fetal organ systems. As a result, synthetic glucocorticoids (sGCs) are administered to pregnant women at risk of delivering preterm. However, animal studies have shown that fetal exposure to sGC results in increased risk of behavioral, endocrine, and metabolic abnormalities in offspring. Here, we test the hypothesis that prenatal GC exposure resulting from the fetal cortisol surge or after sGC exposure results in promoter-specific epigenetic changes in the hippocampus. Fetal guinea pig hippocampi were collected before (gestational day [GD52]) and after (GD65) the fetal plasma cortisol surge (Term∼GD67) and 24 hours after (GD52) and 14 days after (GD65) two repeat courses of maternal sGC (betamethasone) treatment (n = 3–4/gp). We identified extensive genome-wide alterations in promoter methylation in late fetal development (coincident with the fetal cortisol surge), whereby the majority of the affected promoters exhibited hypomethylation. Fetuses exposed to sGC in late gestation exhibited substantial differences in DNA methylation and histone h3 lysine 9 (H3K9) acetylation in specific gene promoters; 24 hours after the sGC treatment, the majority of genes affected were hypomethylated or hyperacetylated. However, 14 days after sGC exposure these differences did not persist, whereas other promoters became hypermethylated or hyperacetylated. These data support the hypothesis that the fetal GC surge is responsible, in part, for significant variations in genome-wide promoter methylation and that prenatal sGC treatment profoundly changes the epigenetic landscape, affecting both DNA methylation and H3K9 acetylation. This is important given the widespread use of sGC in the management of women in preterm labor.
The Roles of Vitamin D in Skeletal Muscle: Form, Function, and Metabolism
Authors: Girgis Christian M. , Clifton-Bligh Roderick J. , Hamrick Mark W. , Holick Michael F. , Gunton Jenny E. 
Published: February 2013

AbstractBeyond its established role in bone and mineral homeostasis, there is emerging evidence that vitamin D exerts a range of effects in skeletal muscle. Reports of profound muscle weakness and changes in the muscle morphology of adults with vitamin D deficiency have long been described. These reports have been supplemented by numerous trials assessing the impact of vitamin D on muscle strength and mass and falls in predominantly elderly and deficient populations. At a basic level, animal models have confirmed that vitamin D deficiency and congenital aberrations in the vitamin D endocrine system may result in muscle weakness. To explain these effects, some molecular mechanisms by which vitamin D impacts on muscle cell differentiation, intracellular calcium handling, and genomic activity have been elucidated. There are also suggestions that vitamin D alters muscle metabolism, specifically its sensitivity to insulin, which is a pertinent feature in the pathophysiology of insulin resistance and type 2 diabetes. We will review the range of human clinical, animal, and cell studies that address the impact of vitamin D in skeletal muscle, and discuss the controversial issues. This is a vibrant field of research and one that continues to extend the frontiers of knowledge of vitamin D's broad functional repertoire.
Serum sclerostin levels in men with idiopathic osteoporosis
Authors: Lapauw B , Vandewalle S , Taes Y , Goemaere S , Zmierczak H , Collette J , Kaufman J M 
Published: February 2013

ObjectiveSclerostin inhibits osteoblast differentiation and bone formation. If aberrant sclerostin action is involved in less efficient bone acquisition in men with idiopathic low bone mass, this might be reflected in higher serum sclerostin levels.MethodsIn 116 men with idiopathic osteoporosis (≤65 years old), 40 of their sons and healthy controls, areal bone parameters were measured using dual-energy X-ray absorptiometry, and volumetric and geometric bone parameters were measured using peripheral quantitative computed tomography. Serum analytes were measured using immunoassays and estradiol (E2) levels using liquid chromatography–tandem mass spectrometry.ResultsMen with idiopathic low bone mass had lower levels of sclerostin than the controls (0.54±0.17 vs 0.66±0.23 ng/ml;P<0.001). In both groups, sclerostin levels were strongly associated with age; when adjusting for age, no associations with anthropometrics were observed (P>0.14). In multivariate analyses, sclerostin levels displayed a positive association with whole-body bone mineral content (BMC) and areal BMD (aBMD), as well as with trabecular and cortical volumetric bone mineral density (vBMD) at the tibia in the probands. No clear associations were observed in the control group, neither were sclerostin levels associated with BMC at the radius or lumbar spine (allP>0.11). Testosterone, but not E2, was inversely related to sclerostin levels in the probands. No difference in sclerostin levels was found in their sons when compared with their controls.ConclusionLower rather than higher serum sclerostin levels in the probands with idiopathic low bone mass suggest that aberrant sclerostin secretion is not involved in the pathogenesis of low bone mass in these subjects.