bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome‐wide association analysis of osteochondrosis of the tibiotarsal joint in Norwegian Standardbred trotters
Authors: Lykkjen S. , Dolvik N. I. , McCue M. E. , Rendahl A. K. , Mickelson J. R. , Roed K. H. 
Published: November 2010

SummaryOsteochondrosis (OC), a disturbance in the process of endochondral ossification, is by far the most important equine developmental orthopaedic disease and is also common in other domestic animals and humans. The purpose of this study was to identify quantitative trait loci (QTL) associated with osteochondrosis dissecans (OCD) at the intermediate ridge of the distal tibia in Norwegian Standardbred (SB) using the Illumina Equine SNP50 BeadChip whole‐genome single‐nucleotide polymorphism (SNP) assay. Radiographic data and blood samples were obtained from 464 SB yearlings. Based on the radiographic examination, 162 horses were selected for genotyping; 80 of these were cases with an OCD at the intermediate ridge of the distal tibia, and 82 were controls without any developmental lesions in the joints examined. Genotyped horses descended from 22 sires, and the number of horses in each half‐sib group ranged from 3 to 14. The population structure necessitated statistical correction for stratification. When conducting a case–control genome‐wide association study (GWAS), mixed‐model analyses displayed regions on chromosomes (Equus callabuschromosome – ECA) 5, 10, 27 and 28 that showed moderate evidence of association (P ≤ 5 × 10−5; thisP‐value is uncorrected i.e. not adjusted for multiple comparisons) with OCD in the tibiotarsal joint. Two SNPs on ECA10 represent the most significant hits (uncorrectedP = 1.19 × 10−5in the mixed‐model). In the basic association (chi‐square) test, these SNPs achieved statistical significance with the Bonferroni correction (P = 0.038) and were close in the permuted logistic regression test (P = 0.054). Putative QTL on ECA 5, 10, 27 and 28 represent interesting areas for future research, validation studies and fine mapping of candidate regions. Results presented here represent the first GWAS of OC in horses using the recently released Illumina Equine SNP50 BeadChip.
Mitochondrial DNA insertions in the nuclear horse genome
Authors: Nergadze S. G. , Lupotto M. , Pellanda P. , Santagostino M. , Vitelli V. , Giulotto E. 
Published: November 2010

SummaryThe insertion of mitochondrial DNA in the nuclear genome generates numts, nuclear sequences of mitochondrial origin. In the horse reference genome, we identified 82 numts and showed that the entire horse mitochondrial DNA is represented as numts without gross bias. Numts were inserted in the horse nuclear genome at random sites and were probably generated during the repair of DNA double‐strand breaks. We then analysed 12 numt loci in 20 unrelated horses and found that null alleles, lacking the mitochondrial DNA insertion, were present at six of these loci. At some loci, the null allele is prevalent in the sample analysed, suggesting that, in the horse population, the number of numt loci may be higher than 82 present in the reference genome. Contrary to humans, the insertion polymorphism of numts is extremely frequent in the horse population, supporting the hypothesis that the genome of this species is in a rapidly evolving state.
The effect of rectal ozone on the portal vein oxygenation and pharmacokinetics of propranolol in liver cirrhosis (a preliminary human study)
Authors: Zaky Saad , Fouad Ehab Ahmad , Kotb Hassan Ibrahim Mohamad 
Published: November 2010

WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT• Experimental work has shown that ozone protected both the liver and kidney from reperfusion injury through release of mediators of nitric oxide. Rectal ozone increased oxygenation in the intestinal wall (250%), portal vein (134%) and liver parenchyma (127%) in experimental animals. The kinetics of propranolol and other oxidation‐dependent drugs have been reported to be affected due to liver cirrhosis. Several experimental studies have reported improved propranolol clearance through increased hepatic blood flow.WHAT THIS STUDY ADDS• This current study looked for evidence in man of improved hepato‐splanchnic oxygenation after rectal ozone. Changes in metabolic pathway via measurement of portal vein oxygenation and the kinetic profile changes of propranolol as an index drug for metabolic oxidation in the liver were measured.• This small preliminary clinical study showed that improved propranolol clearance was obtained by rectal ozone in humans for the first time. In addition there was also evidence of improved portal vein oxygen tension and saturation after rectal ozone. This study has a potential clinical significance.AIMThe aim of this study was to investigate the effect of rectal ozone on portal vein oxygenation and the pharmacokinetic changes of propranolol in patients with liver cirrhosis.METHODSFifteen patients with liver cirrhosis were included They were given a fixed oral dose of propranolol 80 mg on the morning of day 1 after overnight fasting. Blood samples were collected at fixed time intervals for 24 h. Patients were given 12 sessions of rectal ozone of 300 ml of 40% ozone/oxygen mixture. On day 14 another oral dose of 80 mg propranolol was given and blood samples were collected as on day 1. Plasma concentrations of propranolol were measured by HPLC. Portal vein oxygen tension and saturation were measured before and after rectal ozone.RESULTSPlasma concentrations of propranolol were reduced after ozone therapy with pronounced decreases in the maximum plasma concentration and the area under the plasma concentration–time curve. The changes were consistent with a decrease in propranolol bioavailability. There was a decrease in the elimination half‐life and mean residence time. Portal vein oxygenation significantly increased after rectal ozone.CONCLUSIONSThe changes in the pharmacokinetics of propranolol probably reflect an increase in the rate and extent of its metabolism resulting from improved portal vein oxygenation attributable to the ozone therapy. The present work highlights that ozone can be an alternative medical measure to improve portal vein oxygenation in liver cirrhosis.
Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis
Authors: Scott C. A. , O’Toole E. A. , Mohungoo M. J. , Messenger A. , Kelsell D. P. 
Published: November 2010

Summary
Erythrokeratoderma variabilis (EKV) is characterized by fixed hyperkeratotic plaques and transient erythema. Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV. We report one novel mutation in Cx31 and one recurrent mutation in Cx30.3 in two different families. One novel rare sequence variant of unknown clinical significance was also identified. This finding extends the spectrum of known EKV-associated mutations.
Efficacy and safety of a new immunoglobulin G product, Gammaplex®, in primary immunodeficiency diseases
Authors: Moy J N , Scharenberg A M , Stein M R , Suez D , Roberts R L , Levy R J , Ballow M , Fasano M B , Dash C H , Leach S J 
Published: November 2010

Summary
This open-label multi-centre study evaluated a new intravenous immunoglobulin, Gammaplex®, in the treatment of 50 patients with primary immunodeficiency and significant hypogammglobulinaemia. Patients treated previously with other intravenous immunoglobulins received Gammaplex® on their same infusion schedule for 1 year; 22 were on a 21-day and 28 on a 28-day regimen (300–800 mg/kg/infusion). There were no serious, acute bacterial infections, whereas six subjects (12·0%) had at least one such infection in the 6 months before enrolment. Forty subjects (80·0%) had at least one non-serious infection; the median number of infective episodes per subject per year was 3·07. Antibiotics were taken by 38 subjects therapeutically and prophylactically by 16 at some time. Fewer than half (46·0%) missed any time off work or school because of infection or other illness. Trough immunoglobulin (Ig)G levels were above 6·00 g/l in all subjects at all assessments after 15 weeks with two exceptions. Overall, 21·2% of infusions were associated with an adverse event up to 72 h after infusion. The frequency of adverse events increased with infusion rate. Headache was the most common product-related adverse event (7·5% of 703 infusions). In conclusion, Gammaplex® is effective in primary immunodeficiency and is well tolerated.
Effect of soil acidity, soil strength and macropores on root growth and morphology of perennial grass species differing in acid‐soil resistance
Authors: HALING REBECCA E. , SIMPSON RICHARD J. , CULVENOR RICHARD A. , LAMBERS HANS , RICHARDSON ALAN E. 
Published: November 2010

ABSTRACTIt is unclear whether roots of acid‐soil resistant plants have significant advantages, compared with acid‐soil sensitive genotypes, when growing in high‐strength, acid soils or in acid soils where macropores may allow the effects of soil acidity and strength to be avoided. The responses of root growth and morphology to soil acidity, soil strength and macropores by seedlings of five perennial grass genotypes differing in acid‐soil resistance were determined, and the interaction of soil acidity and strength for growth and morphology of roots was investigated. Soil acidity and strength altered root length and architecture, root hair development, and deformed the root tip, especially in acid‐soil sensitive genotypes. Root length was restricted to some extent by soil acidity in all genotypes, but the adverse impact of soil acidity on root growth by acid‐soil resistant genotypes was greater at high levels of soil strength. Roots reacted to soil acidity when growing in macropores, but elongation through high‐strength soil was improved. Soil strength can confound the effect of acidity on root growth, with the sensitivity of acid‐resistant genotypes being greater in high‐strength soils. This highlights the need to select for genotypes that resist both acidity and high soil strength.
Surgical management of biliary complications following living donor liver transplantation
Authors: Khalaf Hatem , Alawi Khalil , Alsuhaibani Hamad , Hegab Bassem , Kamel Yasser , Azzam Ayman , Albahili Hamad , Alsofayan Mohammad , Al Sebayel Mohammed 
Published: November 2010

Khalaf H, Alawi K, Alsuhaibani H, Hegab B, Kamel Y, Azzam A, Albahili H, Alsofayan M, Al Sebayel M. Surgical management of biliary complications following living donor liver transplantation. Clin Transplant 2011: 25: 504–510. © 2010 John Wiley & Sons A/S.Abstract:  Background:  Biliary complications (BC) account for much of the morbidities seen after living donor liver transplantation (LDLT). Surgical reconstruction might be necessary after the failure of endoscopic or percutaneous procedures.Methods:  Between November 2002 and December 2009, a total of 76 LDLTs were performed. Six patients were excluded from statistical analysis because of early graft or patient loss.Results:  Of 70, 26 (37.1%) developed BC; 12 (46.2%) were successfully managed by non‐surgical procedures, three (11.5%) died from BC‐related sepsis, one (3.8%) died from BC‐unrelated causes, and 10 (38.5%) underwent surgical reconstruction. Of those 10, four patients had single duct reconstruction, five patients had double ducts reconstruction, and reconstruction was abandoned in one patient because of hepatic artery thrombosis. After a median follow‐up period of 4.5 yr (0.1–6), seven (70%) remained well with no recurrent biliary problems, and three (30%) had recurrent BCs that were managed either conservatively or by retransplantation. Patients who underwent surgical reconstruction had significantly fewer hospital admissions, less need for invasive procedures, and shorter cumulative hospital stay (p < 0.05).Conclusions:  In our experience, BCs after LDLT were frequently resistant to non‐surgical procedures. Surgical reconstruction is associated with fewer hospital admissions and less need for invasive procedures leading to reduced resources utilization.
Comparing sterile bag rubbing and paint on technique in skin preparation of the hands
Authors: Chou Justin , Choudhary Anwar , Dhillon Raminder S. 
Published: November 2010

AbstractBackground:  The aim of this study was to compare two techniques for surgical site skin preparation in hand surgery.Methods:  We compared the standard sponge paint technique versus a plastic bag immersion technique using a 10% povidone–iodine with alcohol solution (Betadine, ORION Laboratories Pty Ltd, Balcatta, WA, Australia) to prepare surgical site skin for hand surgery. This sterile bag rubbing technique involves using a sterile plastic bag filled with 60 mL of Betadine solution to immerse the subjects' hand. Samples were taken from 10 subjects for bacteria colony‐forming unit (CFU) counts before and 3 min after surgical site preparation in each group. Outcome measures were preparation time and CFU reduction with a plate impression test using commercially available agar slides.Results:  The sterile bag rubbing technique significantly reduced (P < 0.0001) the time required for surgical site skin preparation (28 s) compared with the standard technique (86 s). Both techniques were found to have similar efficacy in the reduction of CFU.Conclusions:  The sterile bag rubbing technique is a quicker alternative method for surgical site preparation in hand surgery and has comparable efficacy to the widely practised standard paint‐on technique.
Altered transcription factor E3 expression in unclassified adult renal cell carcinoma indicates adverse pathological features and poor outcome
Authors: Mir Maria Carmen , Trilla Enrique , de Torres Ines Maria , Panizo Angel , Zlotta Alexander R. , Van Rhijn Bas , Morote Juan 
Published: November 2010

What’s known on the subject? and What does the study add? This is a short series of unclassified RCC with positivity for TFE3 staining an association with poor outcome on those patients’ follow‐up.The paper supports the idea of TFE3 positivity as a marker for poor outcome in RCC patients. It has already been stated in some manuscripts; however, not in this number of patients.OBJECTIVES• To evaluate the clinical and pathologic features and the prognostic relevance of unclassified RCC with – TFE3 over‐expression in our adult series.• Recent studies suggest that renal cell carcinomas (RCCs) associated with the newly recognized Xp11.2 translocation (transcription factor E3 [TFE3] gene fusions) can be found among adults with RCC showing a very aggressive disease‐course.MATERIAL AND METHODS• We evaluated tumour specimens from 25 patients with unclassified RCC morphology out of 298 RCCs in the last 12 years in a tertiary academic centre.• Immunohistochemistry was performed using monoclonal antibody for TFE3 C‐terminal section, taking nuclear label into consideration. RT‐PCR technique was performed for ASPL‐TFE3 gene fusion on two tumours with available frozen tissue.RESULTS• Of the 25 cases analyzed, 8 (32%) showed positivity for TFE3 and 17 were negative for TFE3 staining. Two tumors with ASPL‐TFE3 gene fusion also showed TFE3 over‐expression.• Fifty percent of the positive patients had lymph node metastatic disease, whereas only one TFE3‐negative patient (5.8%) showed evidence of lymph node spread and cava thrombus at diagnosis. Of the TFE3‐positive patients, three had a vena cava thrombus (37.5%). Seven of the eight positive cases (87.5%) were diagnosed with a high Fuhrman grade (III/IV). In comparison, five of 17 (29.4%) TFE3‐negative patients had a high Fuhrman grade. Five of eight TFE3‐positive patients relapsed rapidly at 3 month follow‐up; conversely none of the negative cases relapsed. At 36‐month mean follow‐up, 5‐year cancer‐specific survival was 15.6% for TFE3‐positive patients and 87.5% for TFE3‐negative patients (P < 0.001).CONCLUSION• Patients with unclassified RCC and TFE3 positivity have a grim prognosis due to their advanced stage at presentation and aggressive biologic features compared with the TFE3‐negative unclassified RCC cases.
Radical cystectomy for BCG failure: has the timing improved in recent years?
Authors: Soloway Mark S. , Hepps David , Katkoori Devendar , Ayyathurai Rajinikanth , Manoharan Murugesan 
Published: November 2010

Study Type – Therapy (case series)Level of Evidence 4 What’s known on the subject? and What does the study add? High‐grade Ta‐T1‐carcinoma in situ bladder cancer is a heterogeneous group; long‐term studies have shown that intravesical BCG therapy can be inadequate in a substantial percentage. Despite concerns about delay in performing RC for patients failing one or more courses of BCG, in our study we have not observed a trend towards a lower pathological stage for patients undergoing RC after BCG.OBJECTIVE

To analyse if there is a trend in recent years towards performing radical cystectomy (RC) before muscle invasion or extravesical spread after failure of bacille Calmette–Guérin (BCG) for high grade Ta/T1 bladder cancer. Although BCG is indicated for prophylaxis after endoscopic tumour resection there is still a risk of progression.

PATIENTS AND METHODS

A retrospective analysis of our RC database (1992–2008) was performed to identify patients who underwent RC after receiving BCG.
Relevant clinical and pathological data for the patients with clinical stage Ta, T1 and/or Tis at initial transurethral resection of bladder tumour were analysed.
Pathological stage and survival for patients undergoing RC from 2003 to 2007 (group 2) were compared with those for patients operated between 1992 and 2002 (group 1).

RESULTS

A total of 152 patients were included (75 in group 2 and 77 in group 1). Both groups were similar in T‐stage before BCG initiation, number of BCG cycles received and time interval to RC.
There was no change in the proportion of patients undergoing RC with ≥pT2 bladder cancer in recent years (P= 0.5).
Fifty‐two percent of group 2 and 43% of group 1 had ≥pT2 BC. The 5‐year survival was similar.

CONCLUSIONS

Despite concerns about delay in performing RC for patients failing one or more courses of BCG we have not observed a trend towards a lower pathological stage for patients undergoing RC after BCG.
A high proportion of patients have muscle‐invasive bladder cancer; more than 10% have lymph node metastasis.
Proinsulin/C‐peptide ratio, glucagon and remission in new‐onset Type 1 diabetes mellitus in young adults
Authors: Schölin A. , Nyström L. , Arnqvist H. , Bolinder J. , Björk E. , Berne C. , Karlsson F. A. ,   the Diabetes Incidence Study Group in Sweden (DISS)
Published: November 2010

Diabet. Med. 28, 156–161 (2011)AbstractAims  After initiation of treatment in Type 1 diabetes, a period with lower insulin requirement often follows, reflecting increased insulin sensitivity and improved insulin secretion. We explored if efficiency of proinsulin processing is associated with the remission phenomenon.Methods  Seventy‐eight patients with new‐onset Type 1 diabetes were followed prospectively for 3 years. Daily insulin dosage, HbA1c, plasma glucose, proinsulin, C‐peptide, glucagon concentrations and islet antibodies were determined at diagnosis and after 3, 6, 9, 12, 18, 24, 30 and 36 months. We studied remission, defined as an insulin dose ≤ 0.3 U kg−1 24 h−1 and HbA1c within the normal range, in relation to the above‐mentioned variables.Results  A rise and subsequent decline in plasma proinsulin and C‐peptide concentrations was observed. Forty‐five per cent of the patients experienced remission at one or more times, characterized by higher proinsulin and C‐peptide levels, and lower proinsulin/C‐peptide ratios, indicating more efficient proinsulin processing, compared with those not in remission. Non‐remission also tended to be associated with higher glucagon values. Patients entering remission were more often men, had higher BMI at diagnosis, but did not differ at baseline with respect to islet antibody titres compared with patients with no remission.Conclusions  Remissions after diagnosis of Type 1 diabetes were associated with lower proinsulin/C‐peptide ratios, suggesting more efficient proinsulin processing, and tended to have lower glucagon release than non‐remissions. This indicates that, in remission, the residual islets maintain a secretion of insulin and glucagon of benefit for control of hepatic glucose production.
Differences in minor amputation rate in diabetic foot disease throughout Europe are in part explained by differences in disease severity at presentation
Authors: van Battum P. , Schaper N. , Prompers L. , Apelqvist J. , Jude E. , Piaggesi A. , Bakker K. , Edmonds M. , Holstein P. , Jirkovska A. , Mauricio D. , Ragnarson Tennvall G. , Reike H. , Spraul M. , Uccioli L. , Urbancic V. , van Acker K. , van Baal J. , Ferreira I. , Huijberts M. 
Published: November 2010

Diabet. Med. 28, 199–205 (2011)AbstractObjectives  The incidence of minor amputation may vary significantly, and determinants of minor amputation have not been studied systematically. We evaluated minor amputation rate, the determinants of minor amputation and differences in amputation rate between European centres.Methods  In the Eurodiale study, a prospective cohort study of 1232 patients (1088 followed until end‐point) with a new diabetic foot ulcer were followed on a monthly basis until healing, death, major amputation or up to a maximum of 1 year. Ulcers were treated according to international guidelines. Baseline characteristics independently associated with minor amputation were examined using multiple logistic regression modelling. Based on the results of the multivariable analysis, a disease severity score was calculated for each patient.Results  One hundred and ninety‐four (18%) patients underwent a minor amputation. Predictors of minor amputation were depth of the ulcer (odds ratio 6.08, confidence interval 4.10–9.03), peripheral arterial disease (odds ratio 1.84, confidence interval 1.30–2.60), infection (odds ratio 1.56, confidence interval 1.05–2.30) and male sex (odds ratio 1.42, confidence interval 0.99–2.04). Minor amputation rate varied between 2.4 and 34% in the centres. Minor amputation rate in centres correlated strongly with disease severity score at the moment of presentation to the foot clinic (r = 0.75).Conclusions  Minor amputation is performed frequently in diabetic foot centres throughout Europe and is determined by depth of the ulcer, peripheral arterial disease, infection and male sex. There are important differences in amputation rate between the European centres, which can be explained in part by severity of disease at presentation. This may suggest that early referral to foot clinics can prevent minor amputations.
Patterns and Determinants of Price Changes: Analysing Individual Consumer Prices in Austria
Authors: Rumler Fabio , Stiglbauer Alfred , Baumgartner Josef 
Published: November 2010

Abstract
We provide empirical evidence on the degree and characteristics of price stickiness in Austria by estimating the average frequency of price changes and the duration of price spells from a large dataset of individual price records collected for the computation of the Austrian consumer price index. The mean (median) duration of price spells in Austria amounts to 14 (11) months, but there is considerable heterogeneity across sectors and products. We find that price increases occur only slightly more often than price decreases. For both directions, the average magnitude of price changes is quite large (11% and 14%, respectively). The introduction of the euro cash in January 2002 led to more frequent but, on average, smaller price adjustments than usual. Estimating the probability of a price change in a panel probit model, we find a small but positive effect of the price spell duration on the incidence of price changes. Furthermore, product-specific inflation, the size and the sign of the last price change and the period of the euro introduction significantly affect the probability of a price change.