bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutational and clinical spectrum in Korean with Leber’s hereditary optic neuropathy
Authors: YUM HR , KIM MS , SHIN SY , PARK SH 
Published: August 2014

AbstractPurpose To investigate the spectrum of mutations of mitochondrial DNA (mtDNA) and clinical features in Korean with Leber’s hereditary optic neuropathy (LHON).Methods Total genomic DNA was isolated from the peripheral blood leukocytes of the patients who were suspicious of LHON. The presence of mutations were screened by direct sequencing were analyzed against mitochondrial reference sequence on genetic analyzer. The ophthalmologic examinations of patients were conducted, including visual acuity(VA), color vision, retinal nerve fiber layer(RNFL) thickness and visual field(VF).Results Two primary mutations (G1778A, T14484C) and five secondary mutations (T3394C, C3497T, G11696A, A11392C, T14502C) were detected in 34 of 164 unrelated patients. Among the 34 patients, primary mutation was detected in 21 patients, secondary mutation in 11 patients, and combined primary and secondary mutation in 2 patients. Compared the patients with primary mutation, patients with secondary mutation had increased proportion of woman. The VA was significantly better in secondary mutation than primary mutation. Also, the severity of the color vision deficiency was significantly mild in secondary mutation relative to primary mutation. No significant difference was found in the OCT parameters between the groups including temporal area. However, the visual field index and mean deviation of the visual field test were different significantly between groups.Conclusion Our results emphasize the possible heterogeneity of LHON‐associated mtDNA mutations and clinical phenotypes in Korean LHON patients. Candidate pathogenic mtDNA mutations including major primary mutations should be rigorously investigated.
Leber hereditary optic neuropathy and a new MT‐ND1 pathologic mutation
Authors: ESTEBAN O , MARTINEZ‐ROMERO I , HERRERO‐MARTIN MD , LLOBET L , EMPERADOR S , MARTIN‐NAVARRO A , NARBERHAUS B , ASCASO FJ , LOPEZ‐GALLARDO E , MONTOYA J , RUIZ‐PESINI E 
Published: August 2014

AbstractPurpose Over 90% of Leber hereditary optic neuropathy (LHON) is caused by one of three mitochondrial DNA (mtDNA) mutations (m.11778A>G, m.3460G>A, m.14484T>C) in genes for respiratory complex I (CI) subunits. These mutations are homoplasmic and characterized by incomplete penetrance, and a large percentage of patients harboring these mutations have no family history of disease. However, the pathogenicity of these mutations has not been confirmed. We report a patient who exhibited typical clinical features of LHON and presented a new mutation in the MT‐ND1 gene and lacked all three of the most common mtDNA mutations.Methods The diagnosis of LHON in our patient was based on clinical studies. The mtDNA was completely sequenced and the candidate mutation was analyzed in more than 18,000 individuals around the world, its conservation index was estimated in more than 3,100 species from protists to mammals, its position was modeled in the crystal structure of a bacteria ortholog subunit and its functional consequences were studied in a cybrid model.Results Genetic analysis revealed an m.3472T>C transition in the MT‐ND1 gene that changes a phenylalanine to leucine at position 56. Bioinformatics, molecular‐genetic analysis and functional studies suggest that this transition is the etiologic factor for the disorder.Conclusion The evidence presented strongly suggest that this new mutation expands the spectrum of deleterious changes in mtDNA‐encoded complex I polypeptides associated with this pathology and highlights the difficulties in assigning pathogenicity to new homoplasmic mutations that show incomplete penetrance in sporadic LHON patients.
Lower heart rate variability predicts increased level of C‐reactive protein 4 years later in healthy, nonsmoking adults
Authors: Jarczok M. N. , Koenig J. , Mauss D. , Fischer J. E. , Thayer J. F. 
Published: August 2014

AbstractBackgroundInflammation and vagally mediated heart rate variability (vmHRV) have been implicated in a number of conditions including diabetes and cardiovascular disease. Consistent with the inflammatory reflex termed the ‘cholinergic anti‐inflammatory pathway’, numerous cross‐sectional studies have demonstrated negative associations between vmHRV and inflammatory markers such as C‐reactive protein (CRP). The only prospective study, however, showed the opposite: higher CRP at baseline predicted higher high‐frequency heart rate variability (HF‐HRV) at follow‐up. Thus, additional studies are needed to examine the prospective association between vmHRV and CRP.MethodsHealthy employees participated in a voluntary on‐site health assessment. Blood samples and ambulatory heart rate recordings were obtained, and night‐time HF‐HRV was calculated. Useable heart rate data were available in 2007 for 106 nonsmoking employees (9% women; age 44.4 ± 8 years), all of whom returned for an identical follow‐up health assessment in 2011. Bootstrapped (500 replications) bivariate (r) and partial Pearson's correlations (ppc) adjusting for sex, age and body mass index at baseline (2007) were calculated.ResultsZero‐order correlations indicated that higher HF‐HRV was associated with lower levels of CRP at both time‐points (2007: r = −0.19, P < 0.05; 2011: r = −0.34, P < 0.001). After adjustment, HF‐HRV remained a significant predictor of CRP (ppc = −0.20, P < 0.05).ConclusionIn this study, we have provided in vivo support for the cholinergic anti‐inflammatory pathway in humans. Cardiac vagal modulation at baseline predicts level of CRP 4 years later. Our findings have important implications for the role of vmHRV as a risk factor for cardiovascular disease morbidity and mortality. Interventions targeted at vmHRV might be useful in the prevention of diseases associated with elevated systemic inflammation.
A Twin Study of Objective and Subjective Pubertal Timing and Peer Influence on Risk‐Taking
Authors: Kretsch Natalie , Mendle Jane , Harden Kathryn Paige 
Published: August 2014

This study used a behavioral genetic design to test whether three measures of pubertal timing moderated peer influence on risk‐taking in a sample of 248 female adolescent twin pairs (Mage = 16.0,SD = 1.5) from the National Longitudinal Study of Adolescent Health. Peer influence was operationalized as the quasi‐causal association between girls' self‐reported risk‐taking and the risk‐taking reported by their friends. Girls with earlier ages at menarche and who perceived themselves as more developed than peers were more susceptible to peer influence on risk‐taking. However, age‐standardized ratings of body changes did not moderate peer influence. This study highlights distinctions between multiple measures of pubertal timing, using an innovative synthesis of genetically informative data and peer nomination data.
Low prevalence of hepatitis B virus infection in patients with autoimmune diseases in a Chinese patient population
Authors: Sui M. , Wu R. , Hu X. , Zhang H. , Jiang J. , Yang Y. , Niu J. 
Published: August 2014

SummaryHepatitis B is a very common communicable disease in China but the prevalence of hepatitis B virus (HBV) infection in patients with autoimmune diseases is unknown. We retrospectively investigated the prevalence of autoimmune diseases in patients with HBV infection. The medical records of 4060 patients with autoimmune or nonautoimmune diseases were reviewed. A positive test result for hepatitis B surface antigen (HBsAg) was used to indicate the presence of HBV infection. Autoimmune diseases included autoimmune hepatitis, primary biliary cirrhosis, systemic lupus erythematosus and ulcerative colitis. Nonautoimmune conditions included inguinal hernia, appendicitis and pregnant or postpartum women. The proportion of autoimmune disease patients who were HBsAg positive (2.24%) was significantly lower than that of nonautoimmune disease patients who were HBsAg positive (4.58%; P = 0.0014). Regarding hepatic autoimmune diseases, the positivity rates for HBsAg in autoimmune hepatitis patients (0.83%) and primary biliary cirrhosis patients (1.02%) were both significantly lower than in nonautoimmune patients (4.58%; P = 0.006 and 0.004, respectively). Patients with hepatic autoimmune disease were significantly less likely to be HBsAg positive (0.93%) than patients with non‐hepatic autoimmune disease (3.99%; P = 0.002). Patients with autoimmune diseases, especially those with hepatic autoimmune disease, may more efficiently clear HBV than patients with nonautoimmune diseases.
Toxoplasma gondii infection reduces predator aversion in rats through epigenetic modulation in the host medial amygdala
Authors: Hari Dass Shantala Arundhati , Vyas Ajai 
Published: August 2014

AbstractMale rats (Rattus novergicus) infected with protozoan Toxoplasma gondii relinquish their innate aversion to the cat odours. This behavioural change is postulated to increase transmission of the parasite to its definitive felid hosts. Here, we show that the Toxoplasma gondii infection institutes an epigenetic change in the DNA methylation of the arginine vasopressin promoter in the medial amygdala of male rats. Infected animals exhibit hypomethylation of arginine vasopressin promoter, leading to greater expression of this nonapeptide. The infection also results in the greater activation of the vasopressinergic neurons after exposure to the cat odour. Furthermore, we show that loss of fear in the infected animals can be rescued by the systemic hypermethylation and recapitulated by directed hypomethylation in the medial amygdala. These results demonstrate an epigenetic proximate mechanism underlying the extended phenotype in the Rattus novergicus–Toxoplasma gondii association.
Influence of gene flow on divergence dating – implications for the speciation history of Takydromus grass lizards
Authors: Tseng Shu‐Ping , Li Shou‐Hsien , Hsieh Chia‐Hung , Wang Hurng‐Yi , Lin Si‐Min 
Published: August 2014

AbstractDating the time of divergence and understanding speciation processes are central to the study of the evolutionary history of organisms but are notoriously difficult. The difficulty is largely rooted in variations in the ancestral population size or in the genealogy variation across loci. To depict the speciation processes and divergence histories of three monophyletic Takydromus species endemic to Taiwan, we sequenced 20 nuclear loci and combined with one mitochondrial locus published in GenBank. They were analysed by a multispecies coalescent approach within a Bayesian framework. Divergence dating based on the gene tree approach showed high variation among loci, and the divergence was estimated at an earlier date than when derived by the species‐tree approach. To test whether variations in the ancestral population size accounted for the majority of this variation, we conducted computer inferences using isolation‐with‐migration (IM) and approximate Bayesian computation (ABC) frameworks. The results revealed that gene flow during the early stage of speciation was strongly favoured over the isolation model, and the initiation of the speciation process was far earlier than the dates estimated by gene‐ and species‐based divergence dating. Due to their limited dispersal ability, it is suggested that geographical isolation may have played a major role in the divergence of these Takydromus species. Nevertheless, this study reveals a more complex situation and demonstrates that gene flow during the speciation process cannot be overlooked and may have a great impact on divergence dating. By using multilocus data and incorporating Bayesian coalescence approaches, we provide a more biologically realistic framework for delineating the divergence history of Takydromus.
Reproducibility of Microvascular Vessel Density Analysis in Sidestream Dark‐Field‐Derived Images of Healthy Term Newborns
Authors: van den Berg Victor J. , van Elteren Hugo A. , Buijs Erik A. B. , Ince Can , Tibboel Dick , Reiss Irwin K. M. , de Jonge Rogier C. J. 
Published: August 2014

AbstractObjectiveMicrocirculatory visualization has already been used to investigate buccal and cutaneous microcirculatory alterations in neonates. Still, the reproducibility of these microvascular measurements has never been studied in (premature) neonates. This study aimed to determine the reproducibility of microvascular vessel density in cutaneous and buccal SDF clips in one‐day‐old term newborns.MethodsBuccal and cutaneous microcirculations were measured using SDF imaging. Vessel density was independently assessed by two investigators. Reproducibility was assessed from the ICC and Bland–Altman analysis.ResultsReproducibility of vessel density assessment in the buccal area was good, with ICCs for total and PVD of 0.93 (0.88–0.97) and 0.93 (95% CI 0.85–0.97), respectively, and a near zero bias and acceptable limits of agreement in the Bland–Altman analysis. Reproducibility of assessment of the cutaneous microcirculation was poor with ICCs for total and PVD of 0.31 (0–0.70) and 0.37 (0–0.74), respectively, and large biases (3.09 and 2.53) in the Bland–Altman analysis.ConclusionsEvaluation of buccal microvascular vessel density in SDF‐derived images in term newborns is reproducible in contrary to the cutaneous vessel density.
Telomere‐centric genome repatterning determines recurring chromosome number reductions during the evolution of eukaryotes
Authors: Wang Xiyin , Jin Dianchuan , Wang Zhenyi , Guo Hui , Zhang Lan , Wang Li , Li Jingping , Paterson Andrew H. 
Published: August 2014

Summary

Whole‐genome duplication (WGD) is central to the evolution of many eukaryotic genomes, in particular rendering angiosperm (flowering plant) genomes much less stable than those of animals.

Following repeated duplication/triplication(s), angiosperm chromosome numbers have usually been restored to a narrow range, as one element in a ‘diploidization’ process that re‐establishes diploid heredity.

In several angiosperms affected by WGD, we show that chromosome number reduction (CNR) is best explained by intra‐ and/or inter‐chromosomal crossovers to form new chromosomes that utilize the existing telomeres of ‘invaded’ and centromeres of ‘invading’ chromosomes, the alternative centromeres and telomeres being lost. Comparison with the banana (Musa acuminata) genome supports a ‘fusion model’ for the evolution of rice (Oryza sativa) chromosomes 2 and 3, implying that the grass common ancestor had seven chromosomes rather than the five implied by a ‘fission model.’

The ‘invading’ and ‘invaded’ chromosomes are frequently homoeologs, originating from duplication of a common ancestral chromosome and with greater‐than‐average DNA‐level correspondence to one another. Telomere‐centric CNR following recursive WGD in plants is also important in mammals and yeast, and may be a general mechanism of restoring small linear chromosome numbers in higher eukaryotes.
The Decline of Daily Newspapers and the Third‐Person Effect
Authors: Johnson Martin , Goidel Kirby , Climek Michael 
Published: August 2014

ObjectiveIn this article, we investigate the third‐person effect within the context of the decision by the New Orleans Times‐Picayune in September 2012 to end daily print circulation in favor of a three‐day‐per‐week publication schedule and online news offerings.MethodsWe utilize original survey data based on 1,043 telephone interviews with respondents living in the greater New Orleans area, including 530 landline respondents selected via random digit dialing and 513 respondents randomly selected from available cellular telephone blocks.ResultsWe find evidence of a third‐person effect on judgments about changes at The Times‐Picayune. New Orleans area residents worry that the decline of information will negatively affect the ability of others to keep up with the news. We also show that the effects are contingent upon physical location. The greater the distance from New Orleans, the more pronounced concerns are about the effect of the loss of this daily information source on others in the community.ConclusionsTo date, third‐person effects have generally been studied within the context of enduring and established forms of communication, especially those viewed as having potential negative effects—politically biased messages, other forms of propaganda, and communication that could harm reputations. In this article, we extend this work to show third‐person effects persist within the context of declining news coverage.
The therapeutic potential of a C‐X‐C chemokine receptor type 4 (CXCR‐4) antagonist on hypertrophic scarring in vivo
Authors: Ding Jie , Ma Zengshuan , Liu Hongbin , Kwan Peter , Iwashina Takashi , Shankowsky Heather A. , Wong Donald , Tredget Edward E. 
Published: August 2014

AbstractEffective prevention and treatment of hypertrophic scars (HTSs), a dermal form of fibrosis that frequently occurs following thermal injury to deep dermis, are unsolved significant clinical problems. Previously, we have found that stromal cell‐derived factor 1/CXCR4 signaling is up‐regulated during wound healing in burn patients and HTS tissue after thermal injury. We hypothesize that blood‐borne mononuclear cells are recruited into wound sites after burn injury through the chemokine pathway of stromal cell‐derived factor 1 and its receptor CXCR4. Deep dermal injuries to the skin are often accompanied by prolonged inflammation, which leads to chemotaxis of mononuclear cells into the wounds by chemokine signaling where fibroblast activation occurs and ultimately HTS are formed. Blocking mononuclear cell recruitment and fibroblast activation, CXCR4 antagonism is expected to reduce or minimize scar formation. In this study, the inhibitory effect of CXCR4 antagonist CTCE‐9908 on dermal fibrosis was determined in vivo using a human HTS‐like nude mouse model, in which split‐thickness human skin is transplanted into full‐thickness dorsal excisional wounds in athymic mice, where these wounds subsequently develop fibrotic scars that resemble human HTS as previously described. CTCE‐9908 significantly attenuated scar formation and contraction, reduced the accumulation of macrophages and myofibroblasts, enhanced the remodeling of collagen fibers, and down‐regulated the gene and protein expression of fibrotic growth factors in the human skin tissues. These findings support the potential therapeutic value of CXCR4 antagonist in dermal fibrosis and possibly other fibroproliferative disorders.
Effectiveness of PhysioDirect telephone assessment and advice services for patients with musculoskeletal problems
Authors: Salisbury Chris , Montgomery Alan A , Hollinghurst Sandra , Hopper Cherida , Bishop Annette , Franchini Angelo , Kaur Surinder , Coast Joanna , Hall Jeanette , Grove Sean , Foster Nadine E 
Published: August 2014

STUDY QUESTIONAre PhysioDirect services, based on initial telephone assessment and advice from a physiotherapist, as effective as usual care involving patients waiting for a face-to-face appointment?SUMMARY ANSWERPatients allocated to PhysioDirect received treatment more quickly than those allocated to usual care, and had equivalent clinical outcomes.
Prevalence and risk factors for diabetic retinopathy in rural India. Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study III (SN-DREAMS III), report no 2
Authors: Raman Rajiv , Ganesan Suganeswari , Pal Swakshyar Saumya , Kulothungan Vaitheeswaran , Sharma Tarun 
Published: August 2014

ObjectiveThe study was aimed at estimating the prevalence of type 2 diabetes mellitus and diabetic retinopathy in a rural population of South India.DesignA population-based cross-sectional study.Participants13 079 participants were enumerated.MethodsA multistage cluster sampling method was used. All eligible participants underwent comprehensive eye examination. The fundi of all patients were photographed using 45°, four-field stereoscopic digital photography, and an additional 30° seven-field stereo digital pairs were taken for participants with diabetic retinopathy. The diagnosis of diabetic retinopathy was based on Klein's classification.Main outcome measuresPrevalence of diabetes mellitus and diabetic retinopathy and associated risk factors.ResultsThe prevalence of diabetes in the rural Indian population was 10.4% (95% CI 10.39% to 10.42%); the prevalence of diabetic retinopathy, among patients with diabetes mellitus, was 10.3% (95% CI 8.53% to 11.97%). Statistically significant variables, on multivariate analysis, associated with increased risk of diabetic retinopathy were: gender (men at greater risk; OR 1.52; 95% CI 1.01 to 2.29), use of insulin (OR 3.59; 95% CI 1.41 to 9.14), longer duration of diabetes (15 years; OR 6.01; 95% CI 2.63 to 13.75), systolic hypertension (OR 2.14; 95% CI 1.20 to 3.82), and participants with poor glycemic control (OR 3.37; 95% CI 2.13 to 5.34).ConclusionsNearly 1 of 10 individuals in rural South India, above the age of 40 years, showed evidence of type 2 diabetes mellitus. Likewise, among participants with diabetes, the prevalence of diabetic retinopathy was around 10%; the strongest predictor being the duration of diabetes.
Obesity independently predicts responders to biphasic insulin 50/50 (Humalog Mix50 and Insuman Comb 50) following conversion from other insulin regimens: a retrospective cohort study
Authors: Mamza J , Mehta R , Idris I 
Published: August 2014

AimsThis study aims to examine the metabolic effects of intensification or initiation of insulin treatment with biphasic insulin 50/50, and determine the predictors of responders or non-responders to biphasic insulin 50/50.MethodsA cohort of 2183 patients ≥18 years with diabetes, newly treated with biphasic insulin 50/50 between January 2000 and May 2012, were sourced from UK General Practices via The Health Improvement Network (THIN) database. Baseline clinical parameters of 1267 patients with suboptimal glycated hemoglobin (HbA1c) >7.5% (>58 mmol/mol) who had received background insulin regimens for at least 6 months preceding biphasic insulin 50/50 were compared against 12-month outcome data. Responders were defined as those with HbA1c <7.5% (58 mmol/mol) and/or HbA1c reduction of ≥1% (10.9 mmol/mol) at 12 months. Comparative analyses were carried out on subgroups of 237 patients initiating insulin therapy with biphasic insulin 50/50, and between users of the Humalog Mix50 (HM50) versus Insuman Comb 50 (IC50). Associations were examined using t tests and multivariate logistic regression techniques.ResultsThe overall mean HbA1c reduction at 12 months as a result of intensification and initiation with biphasic insulin 50/50 was 0.5% (5.5 mmol/mol) and 1.6% (17.5 mmol/mol), respectively. Adjusted ORs show obesity (body mass index >30 kg/m2), treatment duration for ≥9 months, and baseline HbA1c are independent determinants of responders. In addition, stratified for baseline HbA1c levels, HM50 was associated with better HbA1c outcome compared with IC50.Conclusionsbiphasic insulin 50/50 is effective for achieving glycemic control in suboptimal HbA1c levels, especially among obese patients with insulin-treated diabetes. Stratified for baseline HbA1c, HM50 was associated with improved HbA1c outcome compared with IC50.