bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of the Short-Term Results of the First and Last 50 Scandinavian Total Ankle Replacements
Authors: Schimmel Janneke J. P. , Walschot Luc H. B. , Louwerens Jan Willem K. 
Published: December 2013

Background: Total ankle replacement (TAR) is presently considered to be an acceptable alternative to ankle fusion for patients with debilitating conditions of the ankle. The placing of a total ankle prosthesis is a technically demanding procedure. We hypothesized that the challenging conditions could cause a longer learning curve (>30 cases), and therefore the short-term results of the first and the last 50 cases in a consecutive series of 134 cases were compared. Methods: The first and last consecutive 50 cases by a single surgeon in a series of 134 Scandinavian Total Ankle Replacements (STAR; Waldemar Link, Hamburg, Germany), inserted between May 1999 and May 2008, were evaluated. Operation characteristics, clinical outcome (Foot Function Index [FFI], Kofoed score), complications, and the component alignment on X-rays were assessed. The outcome measures for both groups were compared using independent Student t tests, chi-square tests, and nonparametric alternatives ( P < .05). Results: Surgery time decreased from a median of 125 (83-160) to 100 (65-170) minutes ( P < .001), and fewer perioperative complications were observed (12 vs 4, P = .04). The sagittal alignment of the tibial component was closer to normal in the last series ( P < .001). The clinical outcome did not differ between the 2 series (median FFI: 32 [0-74] vs 25 [0-75], Kofoed score: median 71 [21-96] vs 80.5 [23-100]). The major underlying pathology did change from rheumatoid arthritis (60%) to osteoarthritis (44%; P = .002). No differences in type and number of complications were reported. Conclusion: The surgery time did decrease, there were fewer perioperative fractures, and the tibial component orientation improved, suggesting the presence of a learning curve. Operative experience and a shift in major underlying pathology did not influence clinical outcome. In view of this learning curve we suggest more restrictive patient selection for at least the first 50 TARs. Level of Evidence: Level III, comparative series.
Apolipoprotein E Alleles in Cuban Patients With Mild Cognitive Impairment
Authors: Suárez Viana Manrique , Fernández Yuriem , López Elena del Carmen Ruiz , Clarke David Higginson , Bobes Maria Antonieta , Riverón Ana Maria , López-Cánovas Lilia 
Published: December 2013

Background: Apolipoprotein E (ApoE) ∊4 genotype is the most clearly documented risk factor for Alzheimer’s disease (AD). Epidemiological studies demonstrate an accelerated rate of progression to dementia and AD in patients with mild cognitive impairment (MCI). We assessed the ApoE allele and genotypes frequencies in Cuban patients with MCI. Methods: We performed ApoE genotyping of 74 Cuban patients more than 65 years old. Cognitive assessments included the Mini-Mental State Examination (MMSE) and a cognitive battery for evaluating memory, attention, perception, and executive function. Results: Cognitive impairments were characterized by amnesia and executive deficits in patients with MCI. The Apo ∊4 allele frequency was 0.196 in patients with MCI, 10-fold higher than that in the controls. Patients carrying the ∊4 allele exhibited poorer performance in MMSE and tests assessing executive function and short-term memory than noncarriers. Conclusions: The patients exhibited amnestic MCI multiple domains. Cognitive performance was worse in patients who carried the ApoE ∊4 allele.
Social Representation of Dementia and Its Influence on the Search for Early Care by Family Member Caregivers
Authors: Juárez-Cedillo Teresa , Jarillo-Soto Edgar C. , Rosas-Carrasco Oscar 
Published: December 2013

Introduction: Social representations (SRs) contain 3 dimensions: information, attitude, and field. These affect the recognition of the first symptoms of dementia by the patient’s caregiver. This study focused on the period from the first signs of cognitive difficulties to the diagnosis of dementia. Methods: Eight caregivers of elderly patients with dementia were interviewed to construct their SRs regarding dementia and how this influences seeking medical treatment during the first stages of the disease. Social representations were analyzed through a structural focus, based on the content analysis. Results: Decision making is related to knowledge about dementia, attitude (emotions and sensitivity), and the concept of the caregiver about the relative with dementia. The results confirm the importance of the symbolic dimension of personal experience in managing care and seeking medical treatment. Conclusion: The presence of dementia in the family creates interpersonal dilemmas that caregivers experience. The solutions are framed in the sociocultural context.
Extraskeletal Chondroma on the Sole of the Foot
Authors: Vaseenon Tanawat , Cheewawattanachai Chaiyarit , Pattamapaspong Nuttaya , Settakorn Jongkolnee , Leerapun Taninnit 
Published: December 2013

A 47-year-old female presented with a solitary mass located in the plantar region of her left foot. The mass, which she noticed 2 years ago, grew gradually and caused increasing pain when bearing weight. Physical examination showed a 3.5-cm diameter tender nonmobile mass with firm consistency in the midplantar region. Radiographs showed a ring-like calcification compatible with cartilage tissue. Magnetic resonance imaging revealed a lobulated mass with a hypointense signal on T1-weighted images and a hyperintense signal on T2-weighted images in the mid-substance of the plantar fascia. After a skin incision was performed, the mass was dissected from the skin and subcutaneous tissue. Then, a marginal excision was performed. The histological assessment reported chondrocytes within lacunae embedded in a chondroid matrix with focal calcification. The definitive diagnosis was extraskeletal chondroma. Plantar pain resolved within 3 months and no recurrence was found at the 1-year follow-up. Level of Evidence: Therapeutic Level IV, Case Report
Articular Cartilage Changes in Maturing Athletes
Authors: Luria Ayala , Chu Constance R. 
Published: December 2013

Context: Articular cartilage has a unique functional architecture capable of providing a lifetime of pain-free joint motion. This tissue, however, undergoes substantial age-related physiologic, mechanical, biochemical, and functional changes that reduce its ability to overcome the effects of mechanical stress and injury. Many factors affect joint function in the maturing athlete—from chondrocyte survival and metabolism to structural composition and genetic/epigenetic factors governing cartilage and synovium. An evaluation of age-related changes for joint homeostasis and risk for osteoarthritis is important to the development of new strategies to rejuvenate aging joints. Objective: This review summarizes the current literature on the biochemical, cellular, and physiologic changes occurring in aging articular cartilage. Data Sources: PubMed (1969-2013) and published books in sports health, cartilage biology, and aging. Study Selection: Keywords included aging, athlete, articular cartilage, epigenetics, and functional performance with age. Study Design: Systematic review. Level of Evidence: Level 3. Data Extraction: To be included, research questions addressed the effect of age-related changes on performance, articular cartilage biology, molecular mechanism, and morphology. Results: The mature athlete faces challenges in maintaining cartilage health and joint function due to age-related changes to articular cartilage biology, morphology, and physiology. These changes include chondrocyte loss and a decline in metabolic response, alterations to matrix and synovial tissue composition, and dysregulation of reparative responses. Conclusion: Although physical decline has been regarded as a normal part of aging, many individuals maintain overall fitness and enjoy targeted improvement to their athletic capacity throughout life. Healthy articular cartilage and joints are needed to maintain athletic performance and general activities. Genetic and potentially reversible epigenetic factors influence cartilage physiology and its response to mechanical and injurious stimuli. Improved understandings of the physical and molecular changes to articular cartilage with aging are important to develop successful strategies for joint rejuvenation.
Transcriptomic and genomic evidence for Streptococcus agalactiae adaptation to the bovine environment
Authors: Richards Vincent P , Choi Sang Chul , Bitar Paulina D Pavinski , Gurjar Abhijit A , Stanhope Michael J 
Published: December 2013

AbstractBackgroundStreptococcus agalactiaeis a major cause of bovine mastitis, which is the dominant health disorder affecting milk production within the dairy industry and is responsible for substantial financial losses to the industry worldwide. However, there is considerable evidence for host adaptation (ecotypes) withinS. agalactiae, with both bovine and human sourced isolates showing a high degree of distinctiveness, suggesting differing ability to cause mastitis. Here, we (i) generate RNAseq data from threeS. agalactiaeisolates (two putative bovine adapted and one human) and (ii) compare publicly available whole genome shotgun sequence data from an additional 202 isolates, obtained from six host species, to elucidate possible genetic factors/adaptations likely important forS. agalactiaegrowth and survival in the bovine mammary gland.ResultsTests for differential expression showed distinct expression profiles for the three isolates when grown in bovine milk. A key finding for the two putatively bovine adapted isolates was the up regulation of a lactose metabolism operon (Lac.2) that was strongly correlated with the bovine environment (all 36 bovine sourced isolates on GenBank possessed the operon, in contrast to only 8/151 human sourced isolates). Multi locus sequence typing of all genome sequences and phylogenetic analysis using conserved operon genes from 44 S. agalactiaeisolates and 16 additionalStreptococcusspecies provided strong evidence for acquisition of the operon via multiple lateral gene transfer events, with allStreptococcusspecies known to be major causes of mastitis, identified as possible donors. Furthermore, lactose fermentation tests were only positive for isolates possessing Lac.2. Combined, these findings suggest that lactose metabolism is likely an important adaptation to the bovine environment. Additional up regulation in the bovine adapted isolates included genes involved in copper homeostasis, metabolism of purine, pyrimidine, glycerol and glucose, and possibly aminoglycoside antibiotic resistance.ConclusionWe detected several genetic factors likely important inS. agalactiae’s adaptation to the bovine environment, in particular lactose metabolism. Of concern is the up regulation of a putative antibiotic resistance gene (GCN5-related N-acetyltransferase) that might reflect an adaptation to the use of aminoglycoside antibiotics within this environment.
Male infertility and copy number variants (CNVs) in the dog: a two-pronged approach using Computer Assisted Sperm Analysis (CASA) and Fluorescent In Situ Hybridization (FISH)
Authors: Cassatella Daniele , Martino Nicola Antonio , Valentini Luisa , Guaricci Antonio Ciro , Cardone Maria Francesca , Pizzi Flavia , Dell’Aquila Maria Elena , Ventura Mario 
Published: December 2013

Abstract

Background
Infertility affects ~10-15% of couples trying to have children, in which the rate of male fertility problems is approximately at 30-50%. Copy number variations (CNVs) are DNA sequences greater than or equal to 1 kb in length sharing a high level of similarity, and present at a variable number of copies in the genome; in our study, we used the canine species as an animal model to detect CNVs responsible for male infertility. We aim to identify CNVs associated with male infertility in the dog genome with a two-pronged approach: we performed a sperm analysis using the CASA system and a cytogenetic-targeted analysis on genes involved in male gonad development and spermatogenesis with fluorescence in situ hybridization (FISH), using dog-specific clones. This analysis was carried out to evaluate possible correlations between CNVs on targeted genes and spermatogenesis impairments or infertility factors.

Results
We identified two genomic regions hybridized by BACs CH82-321J09 and CH82-509B23 showing duplication patterns in all samples except for an azoospermic dog. These two regions harbor two important genes for spermatogenesis: DNM2 and TEKT1. The genomic region encompassed by the BAC clone CH82-324I01 showed a single-copy pattern in all samples except for one dog, assessed with low-quality sperm, displaying a marked duplication pattern. This genomic region harbors SOX8, a key gene for testis development.

Conclusion
We present the first study involving functional and genetic analyses in male infertility. We set up an extremely reliable analysis on dog sperm cells with a highly consistent statistical significance, and we succeeded in conducting FISH experiments on sperm cells using BAC clones as probes. We found copy number differences in infertile compared with fertile dogs for genomic regions encompassing TEKT1, DNM2, and SOX8, suggesting those genes could have a role if deleted or duplicated with respect to the reference copy number in fertility biology. This method is of particular interest in the dog due to the recognized role of this species as an animal model for the study of human genetic diseases and could be useful for other species of economic interest and for endangered animal species.
PSP: rapid identification of orthologous coding genes under positive selection across multiple closely related prokaryotic genomes
Authors: Su Fei , Ou Hong-Yu , Tao Fei , Tang Hongzhi , Xu Ping 
Published: December 2013

Abstract

Background
With genomic sequences of many closely related bacterial strains made available by deep sequencing, it is now possible to investigate trends in prokaryotic microevolution. Positive selection is a sub-process of microevolution, in which a particular mutation is favored, causing the allele frequency to continuously shift in one direction. Wide scanning of prokaryotic genomes has shown that positive selection at the molecular level is much more frequent than expected. Genes with significant positive selection may play key roles in bacterial adaption to different environmental pressures. However, selection pressure analyses are computationally intensive and awkward to configure.

Results
Here we describe an open access web server, which is designated as PSP (Positive Selection analysis for Prokaryotic genomes) for performing evolutionary analysis on orthologous coding genes, specially designed for rapid comparison of dozens of closely related prokaryotic genomes. Remarkably, PSP facilitates functional exploration at the multiple levels by assignments and enrichments of KO, GO or COG terms. To illustrate this user-friendly tool, we analyzed Escherichia coli and Bacillus cereus genomes and found that several genes, which play key roles in human infection and antibiotic resistance, show significant evidence of positive selection. PSP is freely available to all users without any login requirement at: http://db-mml.sjtu.edu.cn/PSP/.

Conclusions
PSP ultimately allows researchers to do genome-scale analysis for evolutionary selection across multiple prokaryotic genomes rapidly and easily, and identify the genes undergoing positive selection, which may play key roles in the interactions of host-pathogen and/or environmental adaptation.
Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum
Authors: Komarova Tatiana Yu , Korneva Victoria A , Kuznetsova Tatiana Yu , Golovina Alexandra S , Vasilyev Vadim B , Mandelshtam Michail Yu 
Published: December 2013

Abstract

Background
Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied, which allows both elucidating prevalent mutations and developing DNA diagnostic tools for the disease. Recent research of FH in St. Petersburg, Moscow and Novosibirsk (major cities in Russia) demonstrates that each megapolis has its own FH mutation spectrum sharing only small part of mutations with other populations in Russia and Europe. In order to optimize molecular-genetic diagnostic protocols for FH in Russia we studied mutation spectrum in other regions including Petrozavodsk, a smaller town in relatively close proximity to St. Petersburg.

Methods
The principal method was automated detection of single-strand conformation polymorphism followed by direct PCR amplified DNA sequencing.

Results
Twelve different mutations of the low density lipoprotein (LDL) receptor gene were detected in the Petrozavodsk sample (80 patients). Out of these twelve mutations, seven have never been described before (c.192_201delinsGGACTTCA, c. 195_196insT, c. 618 T > G, c. 1340C > G, c. 1686_1693delinsT, c. 1936C > A, c. 2191delG). Other five mutations (c. 58G > A, c. 925_931del, c. 1194C > T, c. 1532 T > C, c. 1920C > T) were previously characterized elsewhere. All new mutations are considered to be a probable cause of the FH in their carriers. Direct evidence of the neutral character of c.58G > A or p. (Gly20Arg) is provided for the first time. Each pathogenic mutation was a trait of its own unique pedigree and so far has not been found in other patients.

Conclusions
Strikingly, out of twelve mutations characterized in the Petrozavodsk sample only one mutation, c. 925_931del, has previously been found in patients from St. Petersburg and Finland (most closely located studied populations), suggesting some common roots in origin of these populations in the past or limited gene exchange between them nowadays. No recurrent mutations were detected.
Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma
Authors: Rumbajan Janette Mareska , Maeda Toshiyuki , Souzaki Ryota , Mitsui Kazumasa , Higashimoto Ken , Nakabayashi Kazuhiko , Yatsuki Hitomi , Nishioka Kenichi , Harada Ryoko , Aoki Shigehisa , Kohashi Kenichi , Oda Yoshinao , Hata Kenichiro , Saji Tsutomu , Taguchi Tomoaki , Tajiri Tatsuro , Soejima Hidenobu , Joh Keiichiro 
Published: December 2013

Abstract

Background
Aberrant methylation at imprinted differentially methylated regions (DMRs) in human 11p15.5 has been reported in many tumors including hepatoblastoma. However, the methylation status of imprinted DMRs in imprinted loci scattered through the human genome has not been analyzed yet in any tumors.

Methods
The methylation statuses of 33 imprinted DMRs were analyzed in 12 hepatoblastomas and adjacent normal liver tissue by MALDI-TOF MS and pyrosequencing. Uniparental disomy (UPD) and copy number abnormalities were investigated with DNA polymorphisms.

Results
Among 33 DMRs analyzed, 18 showed aberrant methylation in at least 1 tumor. There was large deviation in the incidence of aberrant methylation among the DMRs. KvDMR1 and IGF2-DMR0 were the most frequently hypomethylated DMRs. INPP5Fv2-DMR and RB1-DMR were hypermethylated with high frequencies. Hypomethylation was observed at certain DMRs not only in tumors but also in a small number of adjacent histologically normal liver tissue, whereas hypermethylation was observed only in tumor samples. The methylation levels of long interspersed nuclear element-1 (LINE-1) did not show large differences between tumor tissue and normal liver controls. Chromosomal abnormalities were also found in some tumors. 11p15.5 and 20q13.3 loci showed the frequent occurrence of both genetic and epigenetic alterations.

Conclusions
Our analyses revealed tumor-specific aberrant hypermethylation at some imprinted DMRs in 12 hepatoblastomas with additional suggestion for the possibility of hypomethylation prior to tumor development. Some loci showed both genetic and epigenetic alterations with high frequencies. These findings will aid in understanding the development of hepatoblastoma.
Results of concurrent radio-chemotherapy for the treatment of head and neck squamous cell carcinoma in everyday clinical practice with special reference to early mortality
Authors: Schlumpf Michael , Fischer Claude , Naehrig Diana , Rochlitz Christoph , Buess Martin 
Published: December 2013

Abstract

Background
Randomized controlled trials have established concurrent chemo-radiotherapy as the preferred treatment option for inoperable local-regionally advanced head and neck squamous cell carcinomas (HNSCCs). Because many patients have multiple co-morbidities and would not fulfill the eligibility criteria of clinical trials, the results need to be re-evaluated in daily clinical practice with special reference to early mortality.

Methods
167 consecutive patients with HNSCC who received concurrent chemo-radiotherapy at the Basel University Hospital between 1988 and 2006 were analyzed retrospectively with a special focus on early deaths and risk factors for an unfavorable outcome.

Results
In our cohort, the 3- and 5-year overall survival rates were 54% and 47%, respectively. The therapy was associated with relevant toxicity and an early mortality rate of 5.4%. Patients dying early were analyzed individually for the cause of death. Patients with elevated white blood cell counts (HR: 2.66 p = 0,016) and vascular co-morbidities (HR: 5.3, p = 0,047) showed significantly worse survival rates. The same factors were associated with a trend toward increased treatment-related mortality. The 3-year survival rate improved from approximately 43% for patients treated before the year 2000 to 65% for patients treated after the year 2000 (Fisher’s exact test p = 0.01).

Conclusions
Although many patients who received concurrent chemo-radiotherapy would not have qualified for clinical trials, the outcome was favorable and has significantly improved in recent years. However the early mortality was slightly worse than what is described in the literature.
Influence of stressors and possible pathways of onset of seventh graders’ suicidal ideation in urban and rural areas in Taiwan
Authors: Chiang Yi-Chen , Lee Tony Szu-Hsien , Yen Lee-Lan , Wu Chi-Chen , Lin Dai-Chan , Hurng Baai-Shyun , Chang Hsing-Yi 
Published: December 2013

Abstract

Background
Suicide is the second leading cause of death among young people in Taiwan. However, few studies have investigated children’s suicidal ideation, and longitudinal studies are particularly rare. The purposes of this study were: (1) to describe the proportion of students with suicidal ideation in one month and incidence of suicidal ideation in the 7th graders (the first year of junior high school) living in urban and rural areas; (2) to realize the influence of perceived stressors on the onset of 7th graders’ suicidal ideation; and (3) to explore possible pathways through which trigger factors and perceived stressors lead to suicidal ideation.

Methods
A total of 1,589 students were followed from grade 4 to grade 7. Logistic regression was then used to investigate the influence of perceived stressors on the onset of suicidal ideation in grade 7. Structural equation modeling was used to analyze possible pathways through which trigger factors led to increased pressure from certain stressors which in turn resulted in suicidal ideation.

Results
The proportion of students with suicidal ideation in one month was 2 to 3 times higher in both areas compared to that in elementary school. However, the incidence in the rural area showed a large increase from 10.2% and 9.5% in grades 5 and 6 to 15.5% in grade 7. Urban–rural difference was observed. Important stressors and pathways of suicidal ideation differ between urban and rural areas.

Conclusions
This study showed that the influential stressors in urban and rural areas might be different. Thus, interventions focused on coping skills for regional specific stressors and trigger factors could be beneficial in the transition time.