bluuebunny/crossref_metadata_2025_split huggingface dataset:
One year of burns at a Role 3 Medical Treatment Facility in Afghanistan
Authors: Jeevaratnam Johann A , Pandya A N 
Published: June 2013

ObjectivesHistorically, burns have formed a significant proportion of the casualties of war. The management of burns in recent conflict has been found to be a resource-heavy undertaking, though its impact on both personnel and resources in current conflicts is unclear. A case analysis has been carried out in order to quantify the logistical impact of the management of burns on Role 3 Medical Treatment Facility (MTF) infrastructure and to examine if and how the cause and management of burns have evolved in early 21st century conflict.MethodsAll casualties treated for burns at a Role 3 MTF over one calendar year were identified and scanned copies of their notes obtained from the UK Joint Theatre Trauma Registry and retrospectively analysed.Results88 of the 1461 (6.0%) trauma patients presenting to the Role 3 MTF over the year were treated for burns of whom 52.3% were combat troops and 45.4% civilians. Half of the burns were caused by non-conflict related mechanisms; the two commonest mechanisms were flame burns in 38/88 mostly non-conflict related cases and blast in 30/88 cases most of which were conflict related.ConclusionsThe management of burns at war is a complex process. It is further confounded by the management of civilians with non-conflict related burns, which places a predictable strain on Role 3 MTF resources: theatre time, nursing time, dressing resources and bed space. This must be planned for in current and future deployed operations.
Cerebral aneurysm treatment is beginning to shift to low volume centers
Authors: Brinjikji Waleed , Lanzino Giuseppe , Kallmes David F , Cloft Harry J 
Published: June 2013

Background and purposeA recent expansion of the neurointerventional workforce in the USA could lead to a trend toward cerebral aneurysms being increasingly treated at low volume centers. Such a trend could have a negative impact on patient care as higher volume centers are known to have better outcomes.MethodsUsing the Nationwide Inpatient Sample, we evaluated trends in aneurysm treatment in the USA from 2001 to 2010. Annual volumes of both ruptured and unruptured aneurysms were counted, as well as annual percentages of cases treated at high volume centers (≥50 aneurysms/year clipped or coiled).ResultsThe number of ruptured aneurysms treated per year has fluctuated between 9000 and 12 000 from 2003 to 2010. In 2001–2002, 27.4% of intracranial aneurysm patients were treated with clipping or coiling at high volume centers, with a peak of 70.1% in 2007–2008. This proportion dropped to 61.8% in 2009–2010. The proportion of patients clipped at high volume centers was 23.3% in 2001–2002 and peaked at 65.0% in 2007–2008. In 2009–2010, the proportion dropped to 58.6%. For coiling patients, 46.4% were treated at high volume centers in 2001–2002, with a peak of 70.1% in 2007–2008, and a drop to 61.8% in 2009–2010.ConclusionA trend toward less cerebral aneurysms being treated in high volume centers in 2009 and 2010 is worrisome because high volume centers are known to tend to have better outcomes. This trend is likely due to recent expansion of the neurointerventional workforce.
Characterisation of dog sensitisation to grass pollen in western France from 1999 to 2010
Authors: Roussel A. J. J. , Bruet V. , Bourdeau P. J. 
Published: June 2013

Very few studies have investigated the seasonal aspect of grass pollen sensitisation or its evolution in the allergic canine population. The aim of this study was to evaluate both these aspects. A study of canine grass pollen sensitisation was performed throughout the statistical analysis of 261 intradermal skin testings (IDT=25 allergens tested on average) performed from January 1999 to December 2010. IDTs were performed on dogs with pruritic allergic skin disease. χ2 Tests were used for statistical analysis. Two hundred and thirteen dogs (81.6 per cent) were sensitised to at least one allergen, and 56 (21.5 per cent) to at least one grass pollen. No increase in the rate of positive IDT was recorded over three periods: 1999–2002, 2003–2006 and 2007–2010. No statistical correlation was detected between sex, age or birth month and grass sensitisation. Moreover, no link was found between the season in which the IDT was performed and sensitisation, indicating that there is no seasonality to the sensitisation. However, considering the grasses tested over these three periods (grass mix and rye grass), a clear and significant increase in the percentage of dogs sensitised to grass pollen was observed between 1999–2002 and 2007–2010 (14.4 per cent and 27.7 per cent, respectively). The possible reasons for this sensitisation increase of dogs to grass pollen are discussed.
A Comprehensive Candidate Gene Study on Bronchial Asthma and Juvenile Idiopathic Arthritis
Authors: Schubert K. , von Bonnsdorf H. , Burke M. , Ahlert I. , Braun S. , Berner R. , Deichmann K. A. , Heinzmann A. 
Published: June 2013

Bronchial asthma and juvenile idiopathic arthritis (JIA) are complex genetic diseases. As both represent chronic inflammatory diseases it is likely that they are at least partially influenced by the same genetic variants. One goal in dissecting the genetics of complex diseases is to identify a genetic risk profile. Therefore it is necessary to genotype polymorphisms in many different pathways. Thus we investigated 48 polymorphisms in 24 genes for association with asthma and/or JIA.Genotpying was performed on 231 asthmatic children, 86 children with JIA and 270 controls. Association analysis was performed by the Armitage’s trend test. Furthermore haplotypes were calculated by FAMHAP.We found association of polymorphisms within IL-4, CTLA4 and TNFalpha with asthma and/or JIA. Furthermore, the polymorphisms showed an inverse distribution between children with asthma and JIA. However, we were not able to confirm association of most of the previously described candidate genes.We conclude from our data that it might be very difficult to identify genetic risk profiles for the development of asthma and/or JIA that would be valid across different populations. However, this study adds further evidence that the common genetic background of asthma and JIA is mainly based on polymorphisms in important TH1 and TH2 cytokines.
A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations
Authors: Pedroni M. , Roncari B. , Maffei S. , Losi L. , Scarselli A. , Di Gregorio C. , Marino M. , Roncucci L. , Benatti P. , Ponti G. , Rossi G. , Menigatti M. , Viel A. , Genuardi M. , de Leon M. Ponz 
Published: June 2013

Hereditary NonPolyposis Colorectal Cancer (Lynch syndrome) is an autosomal dominant disease caused by germline mutations in a class of genes deputed to maintain genomic integrity during cell replication, mutations result in a generalized genomic instability, particularly evident at microsatellite loci (Microsatellite Instability, MSI). MSI is present in 85–90% of colorectal cancers that occur in Lynch Syndrome. To standardize the molecular diagnosis of MSI, a panel of 5 microsatellite markers was proposed (known as the “Bethesda panel”). Aim of our study is to evaluate if MSI testing with two mononucleotide markers, such as BAT25 and BAT26, was sufficient to identify patients with hMLH1/hMSH2 germline mutations. We tested 105 tumours for MSI using both the Bethesda markers and the two mononucleotide markers BAT25 and BAT26. Moreover, immunohistochemical evaluation of MLH1 and MSH2 proteins was executed on the tumours with at least one unstable microsatellite, whereas germline hMLH1/hMSH2 mutations were searched for all cases showing two or more unstable microsatellites.The Bethesda panel detected more MSI(+) tumors than the mononucleotide panel (49.5% and 28.6%, respectively). However, the mononucleotide panel was more efficient to detect MSI(+) tumours with lack of expression of Mismatch Repair proteins (93% vs 54%). Germline mutations were detected in almost all patients whose tumours showed MSI and no expression of MLH1/MSH2 proteins. No germline mutations were found in patients with MSI(+) tumour defined only through dinucleotide markers. In conclusion, the proposed mononucleotide markers panel seems to have a higher predictive value to identify hMLH1 and hMSH2 mutation‐positive patients with Lynch syndrome. Moreover, this panel showed increased specificity, thus improving the cost/effectiveness ratio of the biomolecular analyses.
Systemic Mastocytosis Presenting with a Prominent B Lymphocyte Proliferation in the Bone Marrow and Extensive Fibrosis of the Spleen
Authors: Neşe Nalan , Çağcaron;ırgan Seçkin , Ertan Yešim , Sönmez Ayhan , Soydan Saliha , Hekimgil Mine 
Published: June 2013

Systemic mastocytosis is a disease characterized by multifocal mast cell proliferation in the bone marrow or other extracutaneous organs. Because of loosely scattered and hypo‐/agranular mast cells, the diagnosis is sometimes very difficult. In the bone marrow, mast cell infiltration may be associated with prominent lymphoid infiltration leading to a misdiagnosis of a low grade non‐Hodgkin lymphoma.A 49‐year‐old woman presented with right arm and leg pain, psychiatric symptoms, and diarrhea for four years. Physical examination and laboratory investigation revealed hepatosplenomegaly, anemia, mild thrombocytosis, mild leucocytosis and lymphocytosis. In the bone marrow biopsy, there was a prominent B lymphocyte proliferation reminiscent of a low grade non‐Hodgkin lymphoma/leukemia and there were some spindle cells aggregates in paratrabecular location. The consecutive bone marrow biopsies were similar to the first. The subsequent splenectomy specimen exhibited striking fibrosis. In the lymph node sections, there was marginal zone hyperplasia.Multifocal accumulations of mast cells were strongly positive with mast cell tryptase and CD117 on immunohistochemical staining, though no metachromasia was identified in Giemsa and Toluidine Blue stained aspirates and tissue sections, probably due to hypo‐/agranulation of mast cells.The case was presented to emphasize the importance of the antibody to mast cell tryptase in the diagnosis of mastocytosis and to discuss problems of differential diagnosis of systemic mastocytosis.
Stem Cells in Niemann‐Pick Disease
Authors: Kim Sun-Jung , Park Joon-Suk , Kang Kyung-Sun 
Published: June 2013

Neural stem cells are multi‐potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells. The Niemann‐Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects the function of NPC1 protein. We reported that NPC 1 gene deficiency could lead to lack of the self renewal ability of neural stem cells in Niemann pick type C disease. We also investigated many genes which are involved in stem cells proliferation and differentiation by gene profile in NPC mice.Diagnosis of NPC disease is difficult because it is accompanied by complicated symptoms and the fact that there is no effective treatment for NPC patients. Studies of these stem cells and their relationship to Niemann pick type C disease will provide new biomarkers for early diagnosis as well as a potential cure by use of targeted therapeutics for Niemann pick type C disease.
Sialic Acid and Sialidase Activity in Acute Stroke
Authors: Nanetti L. , Vignini A. , Raffaelli F. , Taffi R. , Silvestrini M. , Provinciali L. , Mazzanti L. 
Published: June 2013

Stroke is a heterogeneous syndrome caused by multiple disease mechanisms, resulting in a disruption of cerebral blood flow with subsequent tissue damage. It is well known that erythrocytes have a large amount of sialic acid and could represent a model to investigate changes occurring in a pathology like stroke. The aim of this study was to investigate a possible relationship among erythrocyte membrane, plasma and sialic acid content. The possible impact of the sialic acid content and the activity of sialidase on stroke severity was also evaluated.The study population consisted of 54 patients with a first stroke and of 53 age‐and sex matched healthy volunteers.The total bound sialic acid was substantially decreased in patients. There was a significant correlation between the sialidase activity values and the severity of the neurological deficit defined by the National Institute of Health Stroke Scale.This study shows that low sialic acid erythrocyte concentrations with contemporary high sialic acid plasma levels and elevated sialidase activity can be considered as markers of ischemic stroke. Further investigations are needed to clarify the possible role of these biochemical changes in producing and sustaining cerebral ischemic damage.
Manganese Superoxide Dismutase Gene Polymorphism (V16A) is Associated with Diabetic Retinopathy in Slovene (Caucasians) Type 2 Diabetes Patients
Authors: Petrovič Mojca Globočnik , Cilenšek Ines , Petrovič Daniel 
Published: June 2013

Substantial data indicate that oxidative stress is involved in the development of diabetic retinopathy. Two candidate genes that affect the oxidative stress are manganese mitochondrial superoxide dismutase (Mn‐SOD) and endothelial nitric oxide synthase (eNOS). The aim of the present study was to examine the role of the V16A polymorphism of the Mn‐SOD gene and the 4a/b polymorphism of the eNOS gene in the development of diabetic retinopathy in Caucasians with type 2 diabetes.In this cross sectional case‐control study 426 unrelated Slovene subjects (Caucasians) with type 2 diabetes mellitus were enrolled: 283 patients with diabetic retinopathy and the control group of 143 subjects with type 2 diabetes of duration of more than 10 years who had no clinical signs of diabetic retinopathy.A significantly higher frequency of the VV genotype of the V16A polymorphism of the Mn‐SOD was found in patients with diabetic retinopathy compared to those without diabetic retinopathy (OR=2.1, 95% CI = 1.2–3.4; p = 0.006), whereas the 4a/b polymorphism of the eNOS gene failed to yield an association with diabetic retinopathy.We may conclude that the VV genotype of the V16A polymorphism of the Mn‐SOD gene was associated with diabetic retinopathy in Caucasians with type 2 diabetes, therefore it might be used as a genetic marker of diabetic retinopathy in Caucasians.
Metastatic Breast Cancer Survival according to HER2 and Topo2a Gene Status
Authors: Todorović-Raković N. , Nešković-Konstantinović Z. , Nikolić-Vukosavljević D. 
Published: June 2013

The aim of this study was to determine the relationship between amplification of HER2 (Human epidermal growth factor receptor 2) and Topo2a (topoisomerase 2a) and their influence on prognosis in metastatic breast cancer (MBC) patients. Amplification of both HER2 and Topo2a genes was determined by chromogenic in situ hybridization (CISH) in primary tumor tissue of 71 MBC patients. Starting point for follow-up was the time of diagnosis of metastatic disease. Although there was significant correlation between HER2 amplification and Topo2a alterations, Topo2a amplification was not strictly related to HER2 amplification. Follow-up of patients showed that there was no difference in MBC survival between HER2-nonamplified and HER2-amplified patients for subgroup as whole, but there was significant difference in MBC survival between patients with and without Topo2a amplification. HER2 amplification showed prognostic value in subgroups of patients, as well as Topo2a. Combination of these two genes with different status (nonamplified, amplified, coamplified) indicated that they might have additive effect. Also, it has been shown that Topo2a-amplified cases have poorer survival than Topo2a-nonamplified, when treated with CMF therapy.Topo2a amplification seems to be more promising biomarker of MBC survival, than HER2, and potential marker of resistance to CMF therapy.
Serum Cystatin C Is a Determinant of Paraoxonase Activity in Hemodialyzed and Renal Transplanted Patients
Authors: Varga Éva , Seres Ildikó , Harangi Mariann , Sztanek Ferenc , Asztalos László , Lõcsey Lajos , Borbás Béla , Szegedi János , Kárpáti István , Paragh Gyórgy 
Published: June 2013

Background: Human paraoxonase-1 (PON1) inhibits LDL-oxidation and atherogenesis, and possesses lactonase activity. Decreased PON1 activity was found in hemodialyzed and renal transplanted patients. Cystatin C plays a protective role in atherosclerosis, and is a new, sensitive marker of renal function. The relationship between these two markers in renal failure has not been investigated.Aims: The goal of this study was to clarify the relationship between PON1 activity, cystatin C and homocysteine in chronic renal failure. We also determined the levels of oxidatively modified LDL (oxLDL) and thiobarbituric acid reactive substances (TBARS) to characterize lipid peroxidation.Patients and methods: 74 hemodialized (HD), 171 renal transplanted patients (TRX), and 110 healthy controls (C) were involved in the study. PON1 activity and TBARS levels were measured spectrophotometrically. OxLDL level was determined with sandwich ELISA.Results: There was a negative correlation between PON1 activity and cystatin C level. Homocysteine level correlated negatively with PON1 activity, and positively with cystatin C level. OxLDL and TBARS levels were significantly higher in the HD and TRX groups compared to C.Conclusions: Cystatin C may be a good predictive factor not only for homocysteine levels but for the antioxidant status in patients with renal failure and renal transplantation.
Soluble CD26 Levels and Its Association to Epidemiologic Parameters in a Sample Population
Authors: De Chiara Loretta , Rodríguez-Piñeiro Ana M. , Cordero Oscar J. , Rodríguez-Berrocal Francisco J. , Ayude Daniel , Rivas-Hervada Francisco J. , de la Cadena María Páez 
Published: June 2013

Introduction: Previous studies have suggested the use of soluble CD26 (sCD26) as a tumour marker for the detection of colorectal cancer (CRC) and advanced adenomas. The aim of this study was to assess the sCD26 concentration in a large cohort to evaluate its association to epidemiologic parameters and CRC-related symptoms/pathologies.Subjects and methods: Serum samples were collected from 2,754 putatively healthy individuals with ages ranging from 30–65 years, and with personal or familial history of polyps, CRC and/or CR symptoms. sCD26 levels were measured by ELISA.Results: No association was found between the sCD26 concentration and age (< 50 and ≥ 50), the personal or familial history of polyps or CRC, rectal bleeding, haemorrhoids or diverticula. However, sCD26 was related to non-inflammatory benign pathologies (excluding rectal bleeding, changes in bowel habits, haemorrhoids, diverticula) and to inflammatory benign pathologies.Discussion: Our results confirm that the sCD26 can be easily offered and evaluated in a large cohort. Additionally, the validation of sCD26 as a tumour marker for screening and case-finding purposes requires a further comparison with an established non-invasive test like the faecal occult blood.
Effect of Genetic Variant (rs11887534) inABCG8Gene in Coronary Artery Disease and Response to Atorvastatin Therapy
Authors: Srivastava Anshika , Garg Naveen , Srivastava Anvesha , Srivastava Kshitij , Mittal Balraj 
Published: June 2013

Background:ATP-binding cassette transporter ABCG8 plays an important role in excretion of cholesterol from liver. Common genetic polymorphisms inABCG8gene may genetically predispose an individual to coronary artery disease (CAD) along with response to atorvastatin therapy. Thus, we aimed to examine the role ofABCG8D19H polymorphism (rs11887534) in susceptibility to CAD and its influence on atorvastatin response.Methodology:The study included 213 CAD patients and 220 controls. Genotyping ofABCG8D19H polymorphism was done by PCR-RFLP.Results:Our results showed that ABCG8 ‘H’ allele was conferring significant risk for CAD in a dominant model (OR = 2.54;p= 0.014). This increased risk for CAD was more pronounced in males (OR = 2.69;p= 0.030). No correlation ofABCG8genotypes with the risk factors (diabetes, hypertension and smoking) of CAD was observed. On atorvastatin treatment there was a significant decrease in the LDL-C levels (p= 0.021). However, stepwise multiple regression analysis showed that this decease was not associated withABCG8genetic variant (p= 0.845). Observed determinants of variation in interindividual response to atorvastatin therapy were pre-treatment LDL-C (p= 0.024) and TC (p= 0.017).Conclusion:Although the genetic variant 19H ofABCG8confers risk for CAD in North Indian population, it is not associated with interindividual response to atorvastatin therapy.
Expression of MicroRNAs in the Urinary Sediment of Patients with IgA Nephropathy
Authors: Wang Gang , Kwan Bonnie Ching-Ha , Lai Fernand Mac-Moune , Chow Kai-Ming , Kam-Tao Li Philip , Szeto Cheuk-Chun 
Published: June 2013

Background:Micro-RNAs (miRNAs) regulate one-third of all protein-coding genes and are fundamental in the pathophysiology of a wide range of diseases. We studied the expression of several miRNA species (miR-200 family, miR-205 and miR-192) in the urinary sediment of patients with IgA nephropathy (IgAN).Methods:We studied 43 patients with biopsy-proven IgAN. Urinary expression of miRNAs was determined and compared to that from 13 healthy controls.Results:The levels of urinary miR-200a, miR-200b and miR-429, but not miR-200c, miR-141, miR-205, or miR-192, were down-regulated in patients with IgAN. Proteinuria significantly correlated with urinary expression of miR-200a (r= −0.483,P< 0.001), miR-200b (r= −0.448,P= 0.001) and miR-429 (r= −0.466,P= 0.001). Baseline renal function significantly correlated with urinary expression of miR-200b (r= 0.512,P< 0.001) and miR-429 (r= 0.425, P = 0.005). Urinary gene expression of ZEB2 inversely correlated with miR-200b (r= −0.321,P= 0.017); and vimentin expression inversely correlated with that of miR-200a (r= −0.360,P= 0.007), miR-200b (r= −0.416,P= 0.002) and miR-429 (r= −0.375,P= 0.005). After 33.4 ± 12.6 months, the rate of renal function decline significantly correlated with urinary expression of miR-200b (r= 0.316,P= 0.034).Conclusions:Urinary expression of miR-200a, miR-200b and miR-429 were down-regulated in patients with IgAN, and the degree of reduction correlated with disease severity and rate of progression. The results suggested that these miRNA species might play important roles in the pathophysiology of IgAN. Further studies are needed to clarify the role of urinary miRNA repression as a non-invasive marker of IgAN.
Genetic and Epidemiological Risk Factors in the Development of Bronchopulmonary Dysplasia
Authors: Mailaparambil Beena , Krueger Marcus , Heizmann Ulrike , Schlegel Katharina , Heinze Jessica , Heinzmann Andrea 
Published: June 2013

Bronchopulmonary dysplasia (BPD) is the chronic lung disease of preterm infants and still represents a major burden of prematurity. Several clinical risk factors for the onset of the disease are already known. In addition, some candidate genes have recently been identified. We set out to determine clinical as well as genetic risk factors for the development of BPD in the German population.155 infants born with a gestational age ࣘ 28 at the tertiary neonatal Centre, Freiburg, were recruited. Clinical data were recorded from hospital charts. 47 children developed moderate or severe BPD. For genetic analyses, 37 polymorphisms within sixteen genes were genotyped on all children.The strongest epidemiological risk factor for BPD was birth weight, followed by low gestational age. Genetic association was detected with single polymorphisms within Tumour necrosis factor alpha, Toll like receptor 10 and vascular endothelial growth factor. The former two genes showed also association with BPD in haplotype analyses. In conclusion, association of BPD was far more convincingly found with a few clinical factors than with genetic polymorphisms. This underscores the genetic complexity of the disease. Furthermore, the identification of predisposing genetic polymorphisms might be hampered by the complex interaction between clinical and genetic factors.