bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion
Authors: Spessott Waldo A. , Sanmillan Maria L. , McCormick Margaret E. , Patel Nishant , Villanueva Joyce , Zhang Kejian , Nichols Kim E. , Giraudo Claudio G. 
Published: January 2015

Key Points
Monoallelic STXBP2 mutations affecting codon 65 impair lymphocyte cytotoxicity and contribute to hemophagocytic lymphohistiocytosis. Munc18-2R65Q/W mutant proteins function in a dominant-negative manner to impair membrane fusion and arrest SNARE-complex assembly.
The use of the Gail model, body mass index and SNPs to predict breast cancer among women with abnormal (BI-RADS 4) mammograms
Authors: McCarthy Anne Marie , Keller Brad , Kontos Despina , Boghossian Leigh , McGuire Erin , Bristol Mirar , Chen Jinbo , Domchek Susan , Armstrong Katrina 
Published: January 2015

Abstract
Introduction
Mammography screening results in a significant number of false-positives. The use of pretest breast cancer risk factors to guide follow-up of abnormal mammograms could improve the positive predictive value of screening. We evaluated the use of the Gail model, body mass index (BMI), and genetic markers to predict cancer diagnosis among women with abnormal mammograms. We also examined the extent to which pretest risk factors could reclassify women without cancer below the biopsy threshold.

Methods
We recruited a prospective cohort of women referred for biopsy with abnormal (BI-RADS 4) mammograms according to the American College of Radiology’s Breast Imaging-Reporting and Data System (BI-RADS). Breast cancer risk factors were assessed prior to biopsy. A validated panel of 12 single-nucleotide polymorphisms (SNPs) associated with breast cancer were measured. Logistic regression was used to assess the association of Gail risk factors, BMI and SNPs with cancer diagnosis (invasive or ductal carcinoma in situ). Model discrimination was assessed using the area under the receiver operating characteristic curve, and calibration was assessed using the Hosmer-Lemeshow goodness-of-fit test. The distribution of predicted probabilities of a cancer diagnosis were compared for women with or without breast cancer.

Results
In the multivariate model, age (odds ratio (OR) = 1.05; 95% confidence interval (CI), 1.03 to 1.08; P < 0.001), SNP panel relative risk (OR = 2.30; 95% CI, 1.06 to 4.99, P = 0.035) and BMI (≥30 kg/m2 versus <25 kg/m2; OR = 2.20; 95% CI, 1.05 to 4.58; P = 0.036) were significantly associated with breast cancer diagnosis. Older women were more likely than younger women to be diagnosed with breast cancer. The SNP panel relative risk remained strongly associated with breast cancer diagnosis after multivariable adjustment. Higher BMI was also strongly associated with increased odds of a breast cancer diagnosis. Obese women (OR = 2.20; 95% CI, 1.05 to 4.58; P = 0.036) had more than twice the odds of cancer diagnosis compared to women with a BMI <25 kg/m2. The SNP panel appeared to have predictive ability among both white and black women.

Conclusions
Breast cancer risk factors, including BMI and genetic markers, are predictive of cancer diagnosis among women with BI-RADS 4 mammograms. Using pretest risk factors to guide follow-up of abnormal mammograms could reduce the burden of false-positive mammograms.
Sensitivity to change and prediction of global change for the Alzheimer’s Questionnaire
Authors: Malek-Ahmadi Michael , Chen Kewei , Davis Kathryn , Belden Christine M , Powell Jessica , Jacobson Sandra A , Sabbagh Marwan N 
Published: January 2015

Abstract
Introduction
Longitudinal assessment of cognitive decline in amnestic mild cognitive impairment (aMCI) and Alzheimer’s disease (AD) often involves the use of both informant-based and objective cognitive assessments. As efforts have focused on identifying individuals in pre-clinical stages, instruments that are sensitive to subtle cognitive changes are needed. The Alzheimer’s Questionnaire (AQ) has demonstrated high sensitivity and specificity in identifying aMCI and AD; however its ability to measure longitudinal change has not been assessed. The aims of this study are to assess the sensitivity to change of the AQ and to determine whether the AQ predicts change in global cognition and function in cognitively normal (CN), aMCI, and AD subjects.

Methods
Data from 202 individuals participating in a brain and body donation program were utilized for this study (101 CN, 62 aMCI, 39 AD). AD and aMCI individuals were matched on age, education, and gender to CN individuals. Sensitivity to change of the AQ was assessed in addition to the AQ’s ability to predict change in global cognition and function. The Mini Mental State Exam (MMSE) and Functional Activities Questionnaire (FAQ) were used as gold standard comparisons of cognition and function. Sample size calculations for a 25% treatment effect were also carried out for all three groups.

Results
The AQ demonstrated small sensitivity to change in the aMCI and CN groups (d = 0.33, d = 0.23, respectively) and moderate sensitivity to change in the AD group (d = 0.43). The AQ was associated with increases in the Clinical Dementia Rating Global Score (OR = 1.20 (1.09, 1.32), P <0.001). Sample size calculations found that the AQ would require substantially fewer subjects than the MMSE given a 25% treatment effect.

Conclusions
Although the AQ demonstrated small sensitivity to change in aMCI and CN individuals in terms of effect size, the AQ may be superior to objective cognitive tests in terms of required sample size for a clinical trial. As clinicians and researchers continue to identify and treat individuals in earlier stages of AD, there is a need for instruments that are sensitive to cognitive changes in these earlier stages.
Capsule repair may reduce dislocation following hip hemiarthroplasty through a direct lateral approach
Authors: Hughes A. W. , Clark D. , Carlino W. , Gosling O. , Spencer R. F. 
Published: January 2015

Reported rates of dislocation in hip hemiarthroplasty (HA) for the treatment of intra-capsular fractures of the hip, range between 1% and 10%. HA is frequently performed through a direct lateral surgical approach. The aim of this study is to determine the contribution of the anterior capsule to the stability of a cemented HA through a direct lateral approach.A total of five whole-body cadavers were thawed at room temperature, providing ten hip joints for investigation. A Thompson HA was cemented in place via a direct lateral approach. The cadavers were then positioned supine, both knee joints were disarticulated and a digital torque wrench was attached to the femur using a circular frame with three half pins. The wrench applied an external rotation force with the hip in extension to allow the hip to dislocate anteriorly. Each hip was dislocated twice; once with a capsular repair and once without repairing the capsule. Stratified sampling ensured the order in which this was performed was alternated for the paired hips on each cadaver.Comparing peak torque force in hips with the capsule repaired and peak torque force in hips without repair of the capsule, revealed a significant difference between the ‘capsule repaired’ (mean 22.96 Nm, standard deviation (sd) 4.61) and the ‘capsule not repaired’ group (mean 5.6 Nm, sd 2.81) (p < 0.001). Capsular repair may help reduce the risk of hip dislocation following HA.Cite this article: Bone Joint J 2015;97-B:141–4.
The biological response to a failed extra-articular polyester ligament used for AC Joint reconstruction at the shoulder girdle
Authors: Kocsis G. , McCulloch T. A. , Thyagarajan D. , Wallace W. A. 
Published: January 2015

The LockDown device (previously called Surgilig) is a braided polyester mesh which is mostly used to reconstruct the dislocated acromioclavicular joint. More than 11 000 have been implanted worldwide. Little is known about the tissue reaction to the device nor to its wear products when implanted in an extra-articular site in humans. This is of importance as an adverse immunological reaction could result in osteolysis or damage to the local tissues, thereby affecting the longevity of the implant.We analysed the histology of five LockDown implants retrieved from five patients over the last seven years by one of the senior authors. Routine analysis was carried out in all five cases and immunohistochemistry in one.The LockDown device acts as a scaffold for connective tissue which forms an investing fibrous pseudoligament. The immunological response at the histological level seems favourable with a limited histiocytic and giant cell response to micron-sized wear particles. The connective tissue envelope around the implant is less organised than a native ligament.Cite this article: Bone Joint J 2015;97-B:83–8.
The assessment of outcome after total knee arthroplasty
Authors: Hossain F. S. , Konan S. , Patel S. , Rodriguez-Merchan E. C. , Haddad F. S. 
Published: January 2015

The routine use of patient reported outcome measures (PROMs) in evaluating the outcome after arthroplasty by healthcare organisations reflects a growing recognition of the importance of patients’ perspectives in improving treatment. Although widely embraced in the NHS, there are concerns that PROMs are being used beyond their means due to a poor understanding of their limitations.This paper reviews some of the current challenges in using PROMs to evaluate total knee arthroplasty. It highlights alternative methods that have been used to improve the assessment of outcome.Cite this article: Bone Joint J 2015;97-B:3–9.
The prevalence of vitamin D deficiency in patients with vertebral fragility fractures
Authors: Maier G. S. , Seeger J. B. , Horas K. , Roth K. E. , Kurth A. A. , Maus U. 
Published: January 2015

Hypovitaminosis D has been identified as a common risk factor for fragility fractures and poor fracture healing. Epidemiological data on vitamin D deficiency have been gathered in various populations, but the association between vertebral fragility fractures and hypovitaminosis D, especially in males, remains unclear. The purpose of this study was to evaluate serum levels of 25-hydroxyvitamin D (25-OH D) in patients presenting with vertebral fragility fractures and to determine whether patients with a vertebral fracture were at greater risk of hypovitaminosis D than a control population. Furthermore, we studied the seasonal variations in the serum vitamin D levels of tested patients in order to clarify the relationship between other known risk factors for osteoporosis and vitamin D levels. We measured the serum 25-OH D levels of 246 patients admitted with vertebral fractures (105 men, 141 female, mean age 69 years, sd 8.5), and in 392 orthopaedic patients with back pain and no fractures (219 men, 173 female, mean age 63 years, sd 11) to evaluate the prevalence of vitamin D insufficiency. Statistical analysis found a significant difference in vitamin D levels between patients with vertebral fragility fracture and the control group (p = 0.036). In addition, there was a significant main effect of the tested variables: obesity (p < 0.001), nicotine abuse (p = 0.002) and diabetes mellitus (p < 0.001). No statistical difference was found between vitamin D levels and gender (p = 0.34). Vitamin D insufficiency was shown to be a risk factor for vertebral fragility fractures in both men and women. Cite this article: Bone Joint J 2015;97-B:89–93.
Wiedomys cerradensis (Gonçalves, Almeida, Bonvicino, 2003) (Rodentia, Cricetidae): first record from the state of Maranhão, Brazil
Authors: Olímpio Ana Priscila Medeiros , Costa Jociel Ferreira , do Nascimento Daiane Chaves , Campos Bruno A.T.P. , da Costa Fraga Elmary , Barros Maria Claudene 
Published: January 2015

AbstractHershkovitz, 1959, was considered to be a monotypic genus for >40 years until P.R. Gonçalves et al. described
Frequency Domain Identification of Multivariable Model for Aero-Engine using an Improved Maximum Likelihood Method
Authors: Liu Nan , Huang Jinquan , Lu Feng , Pan Muxuan 
Published: January 2015

AbstractFor the linear modeling problem of multivariable system of aero-engine, considering the coupling between parameters, a multivariable maximum likelihood (ML) estimation method is researched. An improved expectation-maximization (EM) algorithm integrated genetic algorithm (GA) is proposed and applied to the process of ML identification of frequency domain. The amplitude, harmonic and phase vectors of odd-odd multi-sine exciting signal are designed and optimized. With the application of the proposed method, multivariable linear models of aero-engine at different operation states in flight envelope are established from nonlinear component-level model. The precision is demonstrated through simulations comparing to nonlinear model.
Compressor Instability Active Control via Closed-Coupled Valve and Throttle Actuators
Authors: Sheng Hanlin , Huang Wei , Zhang Tianhong , Huang Xianghua 
Published: January 2015

AbstractActive control techniques are widely researched to expand the stable operating range of axial flow compressors in aero-engines. First, an active controller using closed-coupled valve as actuator has been analyzed using numerical simulation. Analysis results showed that the stability of the controller is affected by system states under large B-parameter of compression system and need a larger control gain besides. Second, using closed-coupled valve and throttle as actuators simultaneously, a novel active control strategy has been proposed. Throttle feedback control is used to decrease the nominal B-parameter of compression system to improve control performance of closed-coupled valve controller. Lastly, numerical simulation has been carried out to evaluate the proposed control strategy. Simulation results showed that the novel controller extends the stable operation range of compression system greatly.
Left ventricular ejection fraction assessment by non-cardiologists from transverse views using a simplified wall motion score index
Authors: Lebeau Real , Sas Georgetta , El Rayes Malak , Serban Alexandrina , Moustafa Sherif , Essadiqi Btissama , DiLorenzo Maria , Souliere Vicky , Beaulieu Yanick , Sauve Claude , Amyot Robert , Serri Karim 
Published: January 2015

Abstract
For the non-cardiologist emergency physician and intensivist, performing an accurate estimation of left ventricular ejection fraction (LVEF) is essential for the management of critically ill patients, such as patients presenting with shock, severe respiratory distress or chest pain. Our objective was to develop a semi-quantitative method to improve visual LVEF evaluation. A group of 12 sets of transthoracic echocardiograms with LVEF in the range of 18–64% were interpreted by 17 experienced observers (PRO) and 103 untrained observers or novices (NOV), without previous training in echocardiography. They were asked to assess LVEF by two different methods: i) visual estimation (VIS) by analysing the three classical left ventricle (LV) short-axis views (basal, midventricular and apical short-axis LV section) and ii) semi-quantitative evaluation (base, mid and apex (BMA)) of the same three short-axis views. The results for each of these two methods for both groups (PRO and NOV) were compared with LVEF obtained by radionuclide angiography. The semi-quantitative method (BMA) improved estimation of LVEF by PRO for moderate LV dysfunction (LVEF 30–49%) and normal LVEF. The visual estimate was better for lower LVEF (<30%). In the NOV group, the semi-quantitative method was better than than the visual one in the normal group and in half of the subjects in the moderate LV dysfunction (LVEF 30–49%) group. The visual estimate was better for the lower LVEF (ejection fraction <30%) group. In conclusion, semi-quantitative evaluation of LVEF gives an overall better assessment than VIS for PRO and untrained observers.
Carbonization Kinetics of Various Biomass Sources
Authors: Didem Özcimen  , Ayşegül Ersoy-Mericboyu  
Published: January 2015

Hazelnut shell, apricot stone, grapeseed and chestnut shell samples were carbonized in a thermogravimetric (TG) analyzer at different conditions to determine the carbonization kinetic parameters. Three different calculation methods and 22 different model equations concerning solid-state rate controlling mechanisms were used for the kinetic analysis of the carbonization TG curves. A computer program in BASIC which enables regression analysis, was used to calculate the kinetic parameters from experimental TG data. It was observed that the different values of Arrhenius parameters (E and Log A) were obtained depending on the method of calculation, the gaseous atmosphere and the sample properties. The most appropriate kinetic model which represents the carbonization of the cellulosic and lignin ingredients of the biomass samples were found as f(α)=(1−α)2 and f(α)=0.5·(1−α)·[−ln(1−α)]−1, respectively.
CORRELATION OF DEMERIT POINT SCORE (DPS) AND CHEMICAL PARAMETERS ON QUALITY OF FRESH ESTUARY GROUPER (Epinephelus tauvina) DURING STORAGE IN ICE
Authors: Ariyani Farida , Yenni Yusma , Riyanto Rudi 
Published: January 2015

Quality changes of fresh estuary grouper (Epinephelus tauvina) fish kept in ice was evaluated for sensory and chemical parameters during 21 days of storage. Fish was killed by immersing in ice water (hypothermia). Fresh fish was placed in insulated boxes, and covered with ice flake. The ratio of ice and fish was 2:1 (w/w) and the boxes were kept at ambient temperature. Evaluation was conducted every 3 days for sensory characteristics by Demerit Point Score /DPS for appearance, eyes, gills, belly, vent, and belly cavity. Moreover, Total Volatile Base/TVB, Trimethyl Amine/TMA , and the K value were measured until fish was rejected by panelists. The results showed that estuary grouper fish stored in ice was rejected by panelists on 21 days of storage with TVB value of 29.43 mgN%, TMA value of 22.10mgN% and K value of 40.54% (max level of 60%). Related to correlation between sensory and chemical parameters, it showed that Demerit Point Score correlated well with TVB, TMA and K value.
Analysis of nuclear microsatellites reveals limited differentiation between Colchic and Hyrcanian populations of the wind‐pollinated relict tree Zelkova carpinifolia (Ulmaceae)
Authors: Maharramova Elmira H. , Safarov Hajiaga M. , Kozlowski Gregor , Borsch Thomas , Muller Ludo A. 
Published: January 2015

• Premise of the study: The Caucasus represents one of the world's biodiversity hotspots and includes the climatic refugia Hyrcan on the southern coast of the Caspian Sea and Colchis on the eastern coast of the Black Sea, where different species survived during the Quaternary climatic oscillations. We evaluated the genetic diversity of the relict tree Zelkova carpinifolia shared between the two refugia and distributed throughout the Caucasus and adjacent areas.• Methods: Specimens were collected from 30 geographical sites in Azerbaijan, Georgia, Iran, and Turkey and screened for variability at eight nuclear microsatellite loci. The genetic diversity among and within populations was assessed using a set of statistical measures.• Key results: We detected 379 different genotypes from a total of 495 individuals with varying degrees of clonal reproduction at the different sites. Low to intermediate levels of genetic diversity were observed at all sites, and strong differentiation between sampling sites was absent. In addition, we observed no clear genetic differentiation between the Colchis and Hyrcan. Bayesian clustering of the genotypes revealed three populations with high levels of admixture between the sampling sites.• Conclusions: The lack of strong genetic structure of studied populations of Z. carpinifolia contrasts with a previous study based on chloroplast markers and suggests that long‐distance pollen dispersal is an important factor of gene flow among populations of Z. carpinifolia. The present study does not reveal any particular site with particularly isolated genotypes that would deserve more attention for conservation purposes than others, although some sites should be considered for further investigation.
Simple sequence repeat markers for the endangered species Clianthus puniceus and C. maximus (Fabaceae)
Authors: Houliston Gary J. , Ramón‐Laca Ana , Jain Reema , Mitchell Caroline M. , Goeke Dagmar F. 
Published: January 2015

• Premise of the study: Microsatellite markers were developed for Clianthus puniceus using a shotgun sequencing library and tested for cross amplification in the closely related C. maximus to inform population management of these two endangered species.• Methods and Results: We constructed a shotgun sequencing library using a Roche 454 sequencer and searched the resulting data set for putative microsatellite regions. We optimized 12 of these regions to produce polymorphic markers for Clianthus. We tested these markers on four populations of C. maximus and on four C. puniceus individuals of known provenance. Alleles per locus ranged from two to nine, while observed and expected heterozygosities per locus ranged from 0.000 to 1.000 and 0.178 to 0.600, respectively.• Conclusions: These markers will be valuable for ongoing monitoring of the genetic variation in naturally occurring populations of Clianthus and for the selection of individuals for revegetation projects in the species’ former range.
Genetic Association for Caries Susceptibility among Cleft Lip and/or Palate Individuals
Authors: Antunes Leonardo Santos , Tannure Patricia Nivoloni , Antunes Lívia Azeredo Alves , Reis Maria Fernanda , Costa Marcelo Castro , Gouvêa Cresus Vinicius Depes , Olej Beni , Granjeiro Jose Mauro 
Published: January 2015

ABSTRACTAimTo evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626), and the BMP4 gene (rs17563) with dental caries in two different groups (noncleft group and oral cleft group) from a cleft center located at Rio de Janeiro, Brazil.Materials and methodsA total of 486 unrelated children and adolescents with or without caries were evaluated using a cohort design. Data on oral health habits was obtained through a questionnaire and caries data was collected by clinical examination. Genotyping of the selected polymorphisms for TGFB3 and BMP4 were carried out by real-time PCR using the TaqMan assay method from a genomic DNA isolated from buccal epithelial cells of all children and adolescents.ResultsNo association was found between BMP4 polymorphism and caries among individuals from both groups. For TGFB3 polymorphism, significant differences were observed for allele and genotype frequencies between caries free and caries affected individuals in oral cleft group (p = 0.013 and 0.006 for allele and genotype frequencies respectively).ConclusionOur findings provide evidence suggesting that TGFB3 may be involved in caries susceptibility in oral cleft group.Clinical significanceIn the future, the possibility of identifying genes related to caries susceptibility can lead to counseling of the individual that carries gene alterations, with the aim of working on preventive measures for caries as well as bioengineering treatments.How to cite this articleAntunes LS, Tannure PN, Antunes LAA, Reis MF, Costa MC, Gouvêa CVD, Olej B, Granjeiro JM, Küchler EC. Genetic Association for Caries Susceptibility among Cleft Lip and/or Palate Individuals. J Contemp Dent Pract 2014;15(3):288-293.