bluuebunny/crossref_metadata_2025_split huggingface dataset:
Osteonecrosis of the hip in Korean patients with systemic lupus erythematosus: risk factors and clinical outcome
Authors: Lee J , Kwok S-K , Jung S-M , Min H-K , Nam H-C , Seo J-H , Ju JH , Park K-S , Park S-H , Kim H-Y 
Published: December 2013

Objective The objective of this paper is to identify the risk factors for development of symptomatic osteonecrosis (ON) and predictors of total hip replacement (THR) among systemic lupus erythematosus (SLE) patients in Korea. Methods The medical records of 1051 patients with SLE were reviewed, and 73 patients with symptomatic ON were identified. Among them, 64 patients were eligible for the analysis. Sixty-four age- and sex-matched SLE patients without apparent ON were included as disease controls. The risk factors for development of symptomatic ON were identified by logistic regression analyses. The predictors of THR were determined by Cox proportional hazards regression analyses. Results Among 64 patients with ON, 59 had ON of the hip and 36 underwent THR. Independent risk factors for development of symptomatic ON included Cushingoid body habitus (OR 21.792 (95% confidence interval (CI) 2.594–183.083)), use of cyclophosphamide (OR 2.779 (95% CI 1.106–6.981)) and azathioprine (OR 2.662 (95% CI 1.143–6.200)). In the Cox proportional hazards model, only advanced radiological stage of ON (Association for Research on Osseous Circulation (ARCO) stage) was a statistically significant predictor of THR. In subgroup analysis with stage I–III ON, multivariate Cox regression analysis showed neuropsychiatric SLE (NPSLE) (HR 6.295 (95% CI 2.178–18.192)) and cumulative prednisolone dose in the first six months after ON diagnosis > 0.9 g (HR 3.238 (95% CI 1.095–9.58)) to be independent predictors. Conclusions Advanced ARCO stage at the onset of ON is an independent risk factor for THR in SLE patients with ON. In ARCO stage I–III ON, patients with NPSLE and those receiving > 0.9 g prednisolone during the first six months after the ON diagnosis are likely to require THR.
Attitudes of prehospital emergency care professionals toward refusal of treatment
Authors: Erbay Hasan , Alan Sultan , Kadioglu Selim 
Published: December 2013

Introduction: Prehospital emergency medicine is a specific field of emergency medicine. The basic approach of prehospital emergency medicine is to provide patients with medical intervention at the scene of the incident. This special environment causes health professionals to encounter various problems. One of the most important problems in this field is ethics, in particular questions involving refusal of treatment and the processes associated with it. Objective: The objective of this study is to identify emergency health professionals’ views regarding refusal of treatment. Methods: This study was conducted with 356 health professionals who were on active duty in prehospital emergency health services. The data were collected through a form which included 10 statements. The participants were asked to indicate their level of agreement with the statements given by rating them between 0 and 10. Ethical considerations: Before conducting the research, permission was received from the local ethics committee. Participants were given written information about the purpose of the study. Participants were assured that their participation was voluntary. Results: The healthcare professionals with fewer years of experience in the profession and female participants adopted an attitude of giving priority to providing care. Young participants, in general, respected patient autonomy. However, paradoxically, when it comes to emergency medical cases, they expressed an opinion closer to paternalism. Conclusions: This study has found that prehospital emergency health professionals generally respect the patient’s right to refuse treatment; however, they do not prioritize this right when there is a life-threatening situation or when the person does not have decision-making capacity. In these cases, prehospital emergency health professionals tended to adopt a more paternalistic approach.
Anatomical Evaluation of Different Approaches for Tibiotalocalcaneal Arthrodesis
Authors: Rausch Sascha , Loracher Clemens , Fröber Rosemarie , Gueorguiev Boyko , Wagner Andreas , Gras Florian , Simons Paul , Klos Kajetan 
Published: December 2013

Background: The transfibular approach is commonly used for tibiotalocalcaneal arthrodesis. However, the medial and the posterolateral approaches are available as alternatives. The present study was performed to assess the effects of the 3 approaches on the neurovascular structures encountered and to quantify the extent of cartilage in the different joint compartments that could be surgically debrided. Methods: This cadaver study was performed in 6 pairs of formalin-fixed legs (mean donor age: 80 years; 4 females, 2 males). For each approach, 4 specimens were selected. The neurovascular structures at risk and the debrided portions of the articular cartilage were compared. Results: Arterial structures were least compromised by the transfibular approach. The posterolateral approach was particularly likely to damage the lateral malleolar branches of the peroneal artery. Venous structures were at risk mainly from the medial approach, which was also the most risk-bearing of the 3 approaches in terms of nerve damage. The proportions of cartilage-debrided joint surfaces of the tibia in the ankle joint, and of the talus and the calcaneus in the subtalar joint, did not differ notably. The proportions of debrided surfaces of the talus in the ankle joint differed notably among the 3 approaches. Conclusions: The medial approach could be a valid alternative to the lateral transfibular approach for tibiotalocalcaneal arthrodesis. Care should be taken, however, to prevent damage to the saphenous nerve and other neurological structures. Clinical Relevance: Access morbidity and feasibility of adequate cartilage debridement are relevant to the clinical outcome of hindfoot arthrodesis.
The effect of hormones on the lower urinary tract
Authors: Robinson Dudley , Toozs-Hobson Philip , Cardozo Linda 
Published: December 2013

The female genital and lower urinary tracts share a common embryological origin, arising from the urogenital sinus and both are sensitive to the effects of the female sex steroid hormones throughout life. Estrogen is known to have an important role in the function of the lower urinary tract and estrogen and progesterone receptors have been demonstrated in the vagina, urethra, bladder and pelvic floor musculature. In addition estrogen deficiency occurring following the menopause is known to cause atrophic change and may be associated with lower urinary tract symptoms such as frequency, urgency, nocturia, urgency incontinence and recurrent infection. These may also co-exist with symptoms of urogenital atrophy such as dyspareunia, itching, vaginal burning and dryness. Epidemiological studies have implicated estrogen deficiency in the aetiology of lower urinary tract symptoms with 70% of women relating the onset of urinary incontinence to their final menstrual period. Whilst for many years systemic and vaginal estrogen therapy was felt to be beneficial in the treatment of lower urinary and genital tract symptoms this evidence has recently been challenged by large epidemiological studies investigating the use of systemic hormone replacement therapy as primary and secondary prevention of cardiovascular disease and osteoporosis. The aim of this paper is to examine the effect of the sex hormones, estrogen and progesterone, on the lower urinary tract and to review the current evidence regarding the role of systemic and vaginal estrogens in the management of lower urinary tract symptoms and urogenital atrophy.
Mutation of NRAS but not KRAS significantly reduces myeloma sensitivity to single-agent bortezomib therapy
Authors: Mulligan George , Lichter David I. , Di Bacco Alessandra , Blakemore Stephen J. , Berger Allison , Koenig Erik , Bernard Hugues , Trepicchio William , Li Bin , Neuwirth Rachel , Chattopadhyay Nibedita , Bolen Joseph B. , Dorner Andrew J. , van de Velde Helgi , Ricci Deborah , Jagannath Sundar , Berenson James R. , Richardson Paul G. , Stadtmauer Edward A. , Orlowski Robert Z. , Lonial Sagar , Anderson Kenneth C. , Sonneveld Pieter , San Miguel Jesús F. , Esseltine Dixie-Lee , Schu Matthew 
Published: December 2013

Key Points
A high frequency of RAS/RAF mutations and recurrent mutations in PDGFRA and JAK3 were found in relapsed multiple myeloma patients. Patients with NRAS, but not KRAS, mutation exhibited significantly reduced sensitivity to bortezomib but not high-dose dexamethasone.
Migraine misdiagnosis as a sinusitis, a delay that can last for many years
Authors: Al-Hashel Jasem Y , Ahmed Samar Farouk , Alroughani Raed , Goadsby Peter J 
Published: December 2013

AbstractBackgroundSinusitis is the most frequent misdiagnosis given to patients with migraine.Therefore we decided to estimate the frequency of misdiagnosis of sinusitis among migraine patients.MethodsThe study included migraine patients with a past history of sinusitis. All included cases fulfilled the International Classification of Headache Disorders, 3rdedition (ICHD-III- beta) criteria. We excluded patients with evidence of sinusitis within the past 6 months of evaluation. Demographic data, headache history, medical consultation, and medication intake for headache and effectiveness of therapy before and after diagnosis were collected.ResultsA total of 130 migraine patients were recruited. Of these patients 106 (81.5%) were misdiagnosed as sinusitis. The mean time delay of migraine diagnosis was (7.75 ± 6.29, range 1 to 38 years). Chronic migraine was significantly higher (p < 0.02) in misdiagnosed patients than in patients with proper diagnosis. Medication overuse headache (MOH) was reported only in patients misdiagnosed as sinusitis. The misdiagnosed patients were treated either medically 87.7%, or surgically12.3% without relieve of their symptoms in 84.9% and 76.9% respectively. However, migraine headache improved in 68.9% after proper diagnosis and treatment.ConclusionsMany migraine patients were misdiagnosed as sinusitis. Strict adherence to the diagnostic criteria will prevent the delay in migraine diagnosis and help to prevent chronification of the headache and possible MOH.
Diversity and history of the long-chain acyl-CoA synthetase (Acsl) gene family in vertebrates
Authors: Lopes-Marques Mónica , Cunha Isabel , Reis-Henriques Maria Armanda , Santos Miguel M , Castro L Filipe C 
Published: December 2013

Abstract

Background
Fatty acids, a considerable fraction of lipid molecules, participate in fundamental physiological processes. They undergo activation into their corresponding CoA esters for oxidation or esterification into complex lipids (e.g. triglycerides, phospholipids and cholesterol esters), a process that is carried out by acyl-CoA synthases (ACS). Here we analyze the evolution of the gene family encoding for the long-chain acyl-CoA synthetases (Acsl) in vertebrates.

Results
By means of phylogenetics and comparative genomics we show that genome duplications (2R) generated the diversity of Acsl genes in extant vertebrate lineages. In the vertebrate ancestor two separate genes originated the current Acsl1/5/6 and the Acsl3/4 gene families, and the extra gene duplicates in teleosts are a consequence of the teleost specific third round of genome duplication (3R). Moreover, the diversity of Acsl family members is broader than anticipated. Our strategy uncovered a novel uncharacterized Acsl-like gene found in teleosts, spotted gar, coelacanth and possibly lamprey, which we designate Acsl2. The detailed analysis of the Acsl2 teleost gene locus strongly supports the conclusion that it corresponds to a retained 2R paralogue, lost in tetrapods.

Conclusions
We provide here the first evolutionary analysis of the Acsl gene family in vertebrates, showing the specific contribution of 2R/3R to the diversity of this gene family. We find also that the division of ACSL enzymes into two groups predates at least the emergence of deuterostomes. Our study indicates that genome duplications significantly contributed to the elaboration of fatty acid activation metabolism in vertebrates.
Functional characterization of two members of histidine phosphatase superfamily in Mycobacterium tuberculosis
Authors: Coker Olabisi Oluwabukola , Warit Saradee , Rukseree Kamolchanok , Summpunn Pijug , Prammananan Therdsak , Palittapongarnpim Prasit 
Published: December 2013

Abstract

Background
Functional characterization of genes in important pathogenic bacteria such as Mycobacterium tuberculosis is imperative. Rv2135c, which was originally annotated as conserved hypothetical, has been found to be associated with membrane protein fractions of H37Rv strain. The gene appears to contain histidine phosphatase motif common to both cofactor-dependent phosphoglycerate mutases and acid phosphatases in the histidine phosphatase superfamily. The functions of many of the members of this superfamily are annotated based only on similarity to known proteins using automatic annotation systems, which can be erroneous. In addition, the motif at the N-terminal of Rv2135c is ‘RHA’ unlike ‘RHG’ found in most members of histidine phosphatase superfamily. These necessitate the need for its experimental characterization. The crystal structure of Rv0489, another member of the histidine phosphatase superfamily in M. tuberculosis, has been previously reported. However, its biochemical characteristics remain unknown. In this study, Rv2135c and Rv0489 from M. tuberculosis were cloned and expressed in Escherichia coli with 6 histidine residues tagged at the C terminal.

Results
Characterization of the purified recombinant proteins revealed that Rv0489 possesses phosphoglycerate mutase activity while Rv2135c does not. However Rv2135c has an acid phosphatase activity with optimal pH of 5.8. Kinetic parameters of Rv2135c and Rv0489 are studied, confirming that Rv0489 is a cofactor dependent phosphoglycerate mutase of M. tuberculosis. Additional characterization showed that Rv2135c exists as a tetramer while Rv0489 as a dimer in solution.

Conclusion
Most of the proteins orthologous to Rv2135c in other bacteria are annotated as phosphoglycerate mutases or hypothetical proteins. It is possible that they are actually phosphatases. Experimental characterization of a sufficiently large number of bacterial histidine phosphatases will increase the accuracy of the automatic annotation systems towards a better understanding of this important group of enzymes.
Bridging evidence-practice gaps: improving use of medicines in elderly Australian veterans
Authors: Roughead Elizabeth E , Kalisch Ellett Lisa M , Ramsay Emmae N , Pratt Nicole L , Barratt John D , LeBlanc Vanessa T , Ryan Philip , Peck Robert , Killer Graeme , Gilbert Andrew L 
Published: December 2013

Abstract

Background
The Australian Government Department of Veterans’ Affairs (DVA) funds an ongoing health promotion based program to improve use of medicines and related health services, which implements interventions that include audit and feedback in the form of patient-specific feedback generated from administrative claims records. We aimed to determine changes in medicine use as a result of the program.

Methods
The program provides targeted patient-specific feedback to medical practitioners. The feedback is supported with educational material developed by a clinical panel, subject to peer review and overseen by a national editorial committee. Veterans who meet target criteria also receive educational brochures. The program is supported by a national call centre and ongoing national consultation. Segmented regression analyses (interrupted time series) were undertaken to assess changes in medication use in targeted veterans pre and post each intervention.

Results
12 interventions were included; three to increase medicine use, seven which aimed to reduce use, and two which had combination of messages to change use. All programs that aimed to increase medicine use were effective, with relative effect sizes at the time of the intervention ranging from 1% to 8%. Mixed results were seen with programs aiming to reduce inappropriate medicine use. Highly specific programs were effective, with relative effect sizes at the time of the intervention of 10% decline in use of NSAIDs in high risk groups and 14% decline in use of antipsychotics in dementia. Interventions targeting combinations of medicines, including medicine interactions and potentially inappropriate medicines in the elderly did not change practice significantly. Interventions with combinations of messages targeting multiple components of practice had an impact on one component, but not all components targeted.

Conclusions
The Veterans’ MATES program showed positive practice change over time, with interventions increasing use of appropriate medicines where under-use was evident and reduced use of inappropriate medicines when single medicines were targeted. Combinations of messages were less effective, suggesting specific messages focusing on single medicines are required to maximise effect. The program provides a model that could be replicated in other settings.
A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders
Authors: Muiya Nzioka P , Wakil Salma M , Tahir Asma I , Hagos Samya , Najai Mohammed , Gueco Daisy , Al-Tassan Nada , Andres Editha , Mazher Nejat , Meyer Brian F , Dzimiri Nduna 
Published: December 2013

Abstract

Background
The study was designed to evaluate the association of GATA4 gene polymorphism with coronary artery disease (CAD) and its metabolic risk factors, including dyslipidaemic disorders, obesity, type 2 diabetes and hypertension, following a preliminary study linking early onset of CAD in heterozygous familial hypercholesterolaemia to chromosome 8, which harbours the GATA4 gene.

Results
We first sequenced the whole GATA4 gene in 250 individuals to identify variants of interest and then investigated the association of 12 single-nucleotide polymorphisms (SNPs) with the disease traits using Taqman chemistry in 4,278 angiographed Saudi individuals. Of the studied SNPs, rs804280 (1.14 (1.03 to 1.27); p = 0.009) was associated with CAD (2,274 cases vs 2,004 controls), hypercholesterolaemia (1,590 vs 2,487) (1.61 (1.03–2.52); p = 0.037) and elevated low-density lipoprotein-cholesterol (hLDLC) (575 vs 3,404) (1.87 (1.10–3.15); p = 0.020). Additionally, rs3729855_T (1.52 (1.09–2.11; p = 0.013)) and rs17153743 (AG + GG) (2.30 (1.30–4.26); p = 0.005) were implicated in hypertension (3,312 vs 966), following adjustments for confounders. Furthermore, haplotypes CCCGTGCC (χ
2 = 4.71; p = 0.041) and GACCCGTG (χ
2 = 3.84; p = 0.050) constructed from the SNPs were associated with CAD and ACCCACGC (χ
2 = 6.58; p = 0.010) with myocardial infarction, while hypercholesterolaemia (χ
2 = 3.86; p = 0.050) and hLDLC (χ
2 = 4.94; p = 0.026) shared the AACCCATGT, and AACCCATGTC was associated with hLDLC (χ
2 = 4.83; p = 0.028). A 10-mer GACCCGCGCC (χ
2 = 7.59; p = 0.006) was associated with obesity (1,631 vs 2,362), and the GACACACCC (χ
2 = 4.05; p = 0.044) was implicated in type 2 diabetes mellitus 2,378 vs 1,900).

Conclusion
Our study implicates GATA4 in CAD and its metabolic risk traits. The finding also points to the possible involvement of yet undefined entities related to GATA4 transcription activity or gene regulatory pathways in events leading to these cardiovascular disorders.
Certain transformations for multiple hypergeometric functions
Authors: Wei Chuanan , Wang Xiaoxia , Li Yaqiong 
Published: December 2013

Abstract
The aim of this research is to provide many new hypergeometric transformations of Kampé de Fériet’s double hypergeometric functions and Srivastava’s triple hypergeometric functions, which are obtained with the help of the relations of Appell, Humbert, Horn and Srivastava’s multiple hypergeometric functions. The results are derived by the beta integral method which has been recently introduced and studied systematically by Krattenthaler and Rao.

MSC:33C20, 33C05, 33B20.
Aripirazole augmentation in clozapine-associated obsessive-compulsive symptoms in schizophrenia
Authors: Eryılmaz Gül , Hızlı Sayar Gökben , Ozten Eylem , Gögcegöz Gül Işıl , Karamustafalıoğlu Oğuz 
Published: December 2013

Abstract

Objective
Patients with schizophrenia often experience comorbid obsessive-compulsive symptoms. Within these patients, a significant subgroup developed secondary obsessive-compulsive symptoms during treatment with clozapine.

Method
In this paper, we report on four cases in which adjunctive therapy with aripiprazole was tested to alleviate obsessive-compulsive symptoms in schizophrenia.

Results
All four patients had a significant improvement in obsessive-compulsive symptoms. The combination of clozapine and aripiprazole was well tolerated.

Conclusion
This case series demonstrates the clinical efficacy of aripiprazole adjunctive therapy with clozapine in schizophrenic patients with comorbid obsessive-compulsive symptoms. Larger-sampled and controlled studies are required in order to test and confirm these observations.
Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms
Authors: Valli Roberto , Pressato Barbara , Marletta Cristina , Mare Lydia , Montalbano Giuseppe , Curto Francesco Lo , Pasquali Francesco , Maserati Emanuela 
Published: December 2013

AbstractBackgroundAn interstitial deletion of the long arms of chromosome 20, del(20)(q), is frequent in the bone marrow (BM) of patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and myeloproliferative neoplasms (MPN), and it is recurrent in the BM of patients with Shwachman-Diamond syndrome (SDS), who have a 30-40% risk of developing MDS and AML.ResultsWe report the results obtained by microarray-based comparative genomic hybridization (a-CGH) in six patients with SDS, and we compare the loss of chromosome 20 material with one patient with MDS, and with data on 92 informative patients with MDS/AML/MPN and del(20)(q) collected from the literature.ConclusionsThe chromosome material lost in MDS/AML/MPN is highly variable with no identifiable common deleted regions, whereas in SDS the loss is more uniform: in 3/6 patients it was almost identical, and the breakpoints that we defined are probably common to most patients from the literature. In some SDS patients less material may be lost, due to different distal breakpoints, but the proximal breakpoint is in the same region, always leading to the loss of theEIF6gene, an event which was related to a lower risk of MDS/AML in comparison with other patients.