bluuebunny/crossref_metadata_2025_split huggingface dataset:
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Authors: Rydning S. L. , Wedding I. M. , Koht J. , Chawla M. , Øye A.‐M. , Sheng Y. , Vigeland M. D. , Selmer K. K. , Tallaksen C. M. E. 
Published: January 2016

Background and purposeSPG7 is one of the most common forms of autosomal recessive hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous, varying from a complex spastic ataxia to pure spastic paraplegia or pure ataxia. The aim of this study was to clinically and genetically characterize patients with SPG7 in Norway.MethodsSix Norwegian families with a clinical diagnosis of hereditary spastic paraplegia were diagnosed with SPG7 through Sanger sequencing and whole‐exome sequencing. Haplotypes were established to identify a possible founder mutation. All patients were thoroughly examined and the clinical and molecular findings are described.ResultsThe core phenotype was spastic paraparesis with ataxia, bladder disturbances and progressive external ophthalmoplegia. The variant p.H701P was identified in homozygous state in one family and in compound heterozygous state in three families. Haplotype analysis of seven surrounding single nucleotide polymorphisms supports that this variant resides on a founder haplotype. Four of the families were compound heterozygous for the previously well‐described p.A510V variant.ConclusionSPG7 is a common subgroup of hereditary spinocerebellar disorders in Norway. The broad phenotype in the Norwegian SPG7 population illustrates the challenges with the traditional dichotomous classification of hereditary spinocerebellar disorders into hereditary spastic paraplegia or hereditary ataxia. A Norwegian founder mutation p.H701P was identified in four out of six families, making it a major cause of SPG7 in Norway.
Hereditary diffuse leukoencephalopathy with spheroids – a volumetric and radiological comparison with multiple sclerosis patients and healthy controls
Authors: Granberg T. , Hashim F. , Andersen O. , Sundal C. , Karrenbauer V. D. 
Published: January 2016

Background and purposeHereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant disorder caused by colony‐stimulating factor 1 receptor (CSF1R) gene mutations, resulting in demyelination and axonal degeneration with spheroids. The clinical expression is variable, including behavioral changes, cognitive impairment, motor symptoms and parkinsonism. Magnetic resonance imaging (MRI) reveals white matter (WM) changes and atrophy. The indistinct phenotype has led to misdiagnoses. This study's aim was to compare brain volumetry and radiological ratings inHDLSwith multiple sclerosis (MS) patients and controls.MethodsFiveHDLSpatients with c.2562T>A p.Asn854LysCSF1Rmutation, five age‐ and gender‐matchedMSpatients and five healthy controls were cross‐sectionally studied. All patients were examined neurologically.HDLSpatients underwent Mini‐Mental State Examination (MMSE). BrainMRIscans were analyzed volumetrically with FreeSurfer and Lesion Segmentation Toolbox and neuroradiologically with the brainMRIscoring system forHDLS.ResultsPatients withHDLShad lower brain, grey matter andWMfractions (66.3%; 37.9%; 27.6%) compared with controls (78.5%,P= 0.008; 44.4%,P= 0.008; 32.0%,P= 0.008), but not compared withMSpatients (65.7%,P= 0.7; 36.8%,P= 0.4; 27.3%,P= 0.7). CerebellarWMchanges and atrophy were not seen in theHDLSgroup. TheHDLSlesion volume fraction correlated withMMSEscores (r= −0.90,P= 0.04).ConclusionsBrain volume fractions inHDLSwere lower than in controls and similar to those seen inMS. The cerebellum was relatively spared inHDLS, which may help in differentiatingHDLS WMchanges fromMS. The strong relationship ofHDLSlesions withMMSEscores indicates that accumulatingWMpathology inHDLSis associated with cognitive decline.
A review of how magnetic resonance imaging can aid in case management of common pathological conditions of the equine foot
Authors: Barrett M. F. , Frisbie D. D. , King M. R. , Werpy N. M. , Kawcak C. E. 
Published: January 2016

SummaryMagnetic resonance imaging (MRI) has become a valuable tool for the diagnosis of a multitude of conditions previously grouped into the vague diagnosis of palmar heel pain based on the response to palmar digital nerve diagnostic analgesia. The use of MRI not only determines a specific pathological diagnosis of the numerous structures within the foot but also the findings of the MRI help direct treatment and rehabilitation protocols, as well as providing prognostic information. Common injuries include damage to the navicular apparatus, deep digital flexor tendon, arthropathy of the distal interphalangeal joint and desmopathy of the collateral ligaments of the distal interphalangeal joint. This article reviews common MRI abnormalities in the equine foot and how treatment can be directed by the findings. Medical and surgical treatment options, as well as shoeing and rehabilitation protocols, are also discussed in relation to MRI findings. Using MRI can help create a more individually tailored and case‐specific treatment regimen, which can, in turn, promote a more positive outcome in equine cases.
Nutritional management of recurrent colic and colonic impactions
Authors: House A. M. , Warren L. K. 
Published: January 2016

SummaryAlthough diagnosis and treatment of horses with colic have improved in the last 30 years, horses with recurrent colic can be a diagnostic and management challenge for both owners and veterinarians, and colic remains a high priority health concern of owners (Melloret al.). Nutritional management of these cases is often based on previous experience combined with recommendations from the evidence‐based literature. This review will briefly summarise the aetiologies of recurrent colic and primarily focus on evidence‐based nutritional management of colonic impactions, sand enteropathy, inflammatory bowel disease, and idiopathic recurrent colic, which is limited. Additional topics to be covered elsewhere in this series that are relevant to this topic include nutritional management of gastric ulceration, liver disease, colitis, geriatric horses, and feeding the horse pre‐ and post surgery.
Testicular ischaemic necrosis as a cause of equine cryptorchidism
Authors: Gardner A. K. , Santschi E. M. , Aeffner F. , Pigott J. H. , Russell D. S. 
Published: January 2016

SummaryCryptorchidism is a fairly common pathology presented to equine surgical facilities with the cryptorchid testicle most commonly located in the abdomen or ipsilateral inguinal canal. The causes of cryptorchidism are not known, but testicular abnormalities have been suggested. Monorchidism as a cause of maldescent of one or both testicles is rare and is hypothesised to be the result of a vascular insult, similar to testicular regression in man. This case report details laparoscopic abdominal exploration of a cryptorchid horse and identification of an abnormal testicular remnant affected by ischaemic necrosis.
Factors associated with long‐term CD4 cell recovery in HIV‐infected patients on successful antiretroviral therapy
Authors: Collazos J , Valle‐Garay E , Carton JA , Montes AH , Suarez‐Zarracina T , De la Fuente B , Asensi V 
Published: January 2016

ObjectivesThe aim of the study was to study the factors associated with immunological recovery in HIV‐infected patients with suppressed viral load.MethodsNadir and current CD4 cell counts were recorded in 821 patients, as well as many demographic, epidemiological, lifestyle, clinical, therapeutic, genetic, laboratory, liver fibrosis and viral hepatitis parameters.ResultsThe median age of the patients was 44.4 years [interquartile range (IQR) 40.3–48.0 years], the median time since HIV diagnosis was 15.3 years (IQR 10.5–18.9 years), the median time of suppressed viral load was 7.0 years (IQR 4.0–10.0 years) and the median time on the current antiretroviral regimen was 2.8 years (IQR 1.4–4.7 years). The median nadir and current CD4 counts were 193.0 (IQR 84.0–301.0) and 522.0 (IQR 361.0–760) cells/μL, respectively, separated by a median period of 10.2 years (IQR 5.9–12.9 years). The median CD4 count gain during follow‐up was 317.0 (IQR 173.0–508.0) cells/μL. Many variables were associated with CD4 cell gains in univariate analyses, including age, gender, epidemiology, prior clinical conditions, fibrosis stage, transient elastometry, aspartate aminotransferase (AST), nadir CD4 count and hepatitis B and C virus infections and genotypes, as well as the durations of follow‐up since nadir CD4 count, overall antiretroviral treatment, current antiretroviral regimen, protease inhibitor therapy and suppression of viral load. Multivariate analysis revealed that longer duration of HIV suppression (P < 0.0001), more advanced clinical Centers for Disease Control and Prevention (CDC) stages (P < 0.0001), younger age (P = 0.0003), hepatitis C virus genotypes 1 and 4 (P = 0.003), sexual acquisition of HIV (P = 0.004), and lower transient elastometry values (P = 0.03) were independent predictors of CD4 cell gains. Overall, the model accounted for 14.2% of the variability in CD4 count.ConclusionsIn addition to the duration of HIV suppression, HIV‐related diseases, HIV epidemiology, age, hepatitis C virus genotypes, and liver fibrosis were independently associated with long‐term immunological recovery.
Perception of Nepalese dental hygiene and dentistry students towards the dental hygienists profession
Authors: Knevel RJM , Gussy MG , Farmer J , Karimi L 
Published: January 2016

AbstractObjectivesThis study investigates student and stakeholder perceptions of the role of the dental hygienist in Nepal. The impact of these perceptions on the professionalization of dental hygienists is described whilst exploring the consequences for oral health workforce planning.MethodsDentistry and dental hygiene students from one dental college in Nepal were asked to complete an anonymous questionnaire; 171 students returned the questionnaire containing a mix of forced response and open‐ended items. Quantitative data were analysed using SPSS® 22. These data were complemented with qualitative information from survey open questions and from semi‐structured interviews with key informants from several relevant organizations. Qualitative data were manually analysed and coded. Data were triangulated to contextualize quantitative data.ResultsA high level of positive regard for the role of the dental hygienist in Nepal was evident amongst dentistry and dental hygiene students in this college. Both groups believe that the dental hygienist can play a major role in raising oral health awareness in Nepal. The scope of practice of the dental hygienist was unclear with issues surrounding the scope of practice and reports of illegal practice by dental hygienists. Significant differences (P < 0.001) were noted between dental hygiene and dentistry students in relation to their opinion regarding independent practice and the need of supervision by a dentist.Discussion and conclusionSupervision of the dental hygienist by dentists and issues surrounding the scope of practice are polarizing the relationship between dentists, dental hygienists and the relevant professional organizations. This could hinder cooperation between these oral health professionals and might lead to underutilization of the dental hygienist. To improve the understanding about the roles of each oral health professional, establishing functional relationships and intraprofessional education involving dentistry and dental hygiene students needs to be introduced. This will benefit the introduction of preventative oral health services in Nepal. Government jobs and incentives to increase the retention and distribution of oral health professionals should be created. The government and professional organizations need to consider professionalizing the dental hygiene workforce and formalize the scope of practice. The unique demographic details of Nepal require a paradigm shift in oral health workforce management in Nepal.
Quick benefits of interval training versus continuous training on bone: a dual‐energy X‐ray absorptiometry comparative study
Authors: Boudenot Arnaud , Maurel Delphine B. , Pallu Stéphane , Ingrand Isabelle , Boisseau Nathalie , Jaffré Christelle , Portier Hugues 
Published: January 2016

SummaryTo delay age‐related bone loss, physical activity is recommended during growth. However, it is unknown whether interval training is more efficient than continuous training to increase bone mass both quickly and to a greater extent. The aim of this study was to compare the effects of a 10‐week interval training regime with a 14‐week continuous training regime on bone mineral density (BMD). Forty‐four male Wistar rats (8 weeks old) were separated into four groups: control for 10 weeks (C10), control for 14 weeks (C14), moderate interval training for 10 weeks (IT) and moderate continuous training for 14 weeks (CT). Rats were exercised 1 h/day, 5 day/week. Body composition and BMD of the whole body and femur respectively were assessed by dual‐energy X‐ray absorptiometry at baseline and after training to determine raw gain and weight‐normalized BMD gain. Both trained groups had lower weight and fat mass gain when compared to controls. Both trained groups gained more BMD compared to controls when normalized to body weight. Using a 30% shorter training period, the IT group showed more than 20% higher whole body and femur BMD gains compared to the CT. Our data suggest that moderate IT was able to produce faster bone adaptations than moderate CT.
Lichen scrofulosorum and endometrial tuberculosis: a novel association
Authors: Singal Archana , Pandhi Deepika 
Published: January 2016

AbstractBackgroundLichen scrofulosorum (LS) is a rare tuberculid with an underlying systemic focus of tuberculosis (Tb) detected in majority of cases. The associated Tb foci reported in literature include pulmonary, lymph node, intracranial, abdominal, and cutaneous Tb. We report two women who presented with LS and infertility due to endometrial Tb; an association hitherto undescribed.Case reportCase 1: A 24‐year‐old woman presented with asymptomatic grouped papules of LS over the trunk associated with secondary infertility. Endometrial biopsy was suggestive of endometrial Tb, and PCR was positive for M. tuberculosis. The skin lesions resolved after 3 months of anti‐tubercular therapy (ATT). Case 2: A 27‐year‐old woman presented with erythematous, grouped, perifollicular papules over the trunk 5 weeks after starting ATT for endometrial Tb that was diagnosed during work up for primary infertility. A skin biopsy confirmed the diagnosis of LS, and lesions resolved with continuation of ATT for 10 weeks.ConclusionLS can mimic several dermatologic diseases, and a high index of suspicion is required for the diagnosis and initiation of investigations to detect the underlying Tb focus. A good obstetric history in females will aid in early diagnosis and initiation of appropriate therapy.
Herman Bavinck on the Image of God and Original Sin
Authors: Sutanto Nathaniel 
Published: January 2016

AbstractThe organic motif is Bavinck's preferred means to communicate creation's triune shape. An archetypal unity‐in‐diversity in the Godhead implies that creation displays an ectypal unity‐in‐diversity. This article argues that Bavinck's organic ontology provides him with a theological rationale for a doctrine of original sin in which the covenant headship of Adam reflects the organic character of humanity in unity and diversity. Thus, the transmission of original guilt on account of Adam's trespass is not a mere special ordinance by an inscrutable divine will, but an expression of humanity's organic shape. The article concludes by drawing some implications of Bavinck's construction for current discussion concerning original sin.
Efficacy of Cryoballoon Pulmonary Vein Isolation in Patients With Persistent Atrial Fibrillation
Authors: GUHL EMILY N. , SIDDOWAY DONALD , ADELSTEIN EVAN , VOIGT ANDREW , SABA SAMIR , JAIN SANDEEP K. 
Published: January 2016

Cryoballoon Ablation for Persistent Atrial FibrillationIntroductionCryoballoon PVI has emerged as an alternative to radiofrequency PVI for the treatment of paroxysmal AF. The optimal strategy for patients with persistent AF is unclear as data are limited.MethodsWe analyzed a prospective registry of consecutive patients with persistent AF who underwent Cryoballoon PVI at a single center between 2011 and 2014. Patients were assessed for atrial arrhythmia recurrence after a 3‐month blanking period at 6 months, 1 year, and 2 years postprocedure. Recurrence was based on typical symptoms, ECG, or event monitor evidence of AF. Kaplan–Meier analysis was used to estimate arrhythmia‐free survival.ResultsFinal analysis included 69 patients who underwent Cryoballoon PVI with a mean age 59.4 ± 8.1 years, 85.5% male, 53.6% HTN patients, CHA2DS2‐VASC score 1.6 ± 1.2, and LA size 4.5 ± 0.6 cm. The single procedure atrial arrhythmia recurrence‐free rate at 1‐year postprocedure after a 3‐month blanking period was 59% and 50% at a mean follow‐up of 607 days. Of the recurrence‐free group, 17% were taking previously ineffective antiarrhythmic medications. In comparing patients with persistent AF duration <1 year versus >1 year, there was a trend toward greater AF recurrence‐free rates in the <1 year group (66% vs. 55%, P = 0.09).ConclusionCryoballoon PVI appears to be an effective initial strategy in treating persistent AF, with an AF recurrence‐free rate of 59% at 1 year.
RUNX3 is down‐regulated in glioma by Myc‐regulated miR‐4295
Authors: Li Xinxing , Zheng Jihui , Diao Hongyu , Liu Yunhui 
Published: January 2016

AbstractMicroRNAs are increasingly reported as tumour suppressors that regulate gene expression after transcription. Our results demonstrated that miR‐4295 is overexpression in glioma tissues and its level is significantly correlated with clinical stage. We also found that miR‐4295 inhibited the cell G0/G1 arrest and apoptosis leading to promoted cell proliferation and activity. The murine modelling study revealed that female nude mice injected with U87/anti‐miR‐4295 exhibit subcutaneous tumours in the right groin. Compared with anti‐NC, the tumour volume was significantly decreased in anti‐miR‐4295 treatment group. Furthermore, we confirmed miR‐4295 mediates the expression of RUNX3 by targeting its 3′untranslation region. In addition, N‐myc protein also could bind to the promoter of pri‐miR‐4295 and inhibit the expression of RUNX3 in glioma cells. These results validate a pathogenetic role of a miR‐4295 in gliomas and establish a potentially regulatory and signalling pathway involving N‐myc/miR‐4295/RUNX3 in gliomas.
Alpha fetoprotein plays a critical role in promoting metastasis of hepatocellular carcinoma cells
Authors: Lu Yan , Zhu Mingyue , Li Wei , Lin Bo , Dong Xu , Chen Yi , Xie Xieju , Guo Junli , Li Mengsen 
Published: January 2016

AbstractA high level of serum alpha fetoprotein (AFP) is positively associated with human hepatocellular carcinoma (HCC) carcinogenesis and metastasis; however, the function of AFP in HCC metastasis is unknown. This study has explored the effects of AFP on regulating metastatic and invasive capacity of human HCC cells. Forty‐seven clinical patients' liver samples were collected and diagnosed; HCC cells line, Bel 7402 cells (AFP‐producing) and liver cancer cell line cells (non‐AFP‐producing) were selected to analyse the role of AFP in the metastasis of HCC cells. The results indicated that high serum concentration of AFP was positively correlated with HCC intrahepatic, lymph nodes and lung metastasis. Repressed expression of AFP significantly inhibited the capability of migration and invasion of Bel 7402 cells, expression of keratin 19 (K19), epithelial cell adhesion molecule (EpCAM), matrix metalloproteinase 2/9 (MMP2/9) and CXC chemokine receptor 4 (CXCR4) were also down‐regulated in Bel 7402 cells; migration and invasion, expression of K19, EpCAM, MMP2/9 and CXCR4 were significantly enhanced when HLE cells were transfected with AFP‐expressed vector. The results demonstrated that AFP plays a critical role in promoting metastasis of HCC; AFP promoted HCC cell invasion and metastasis via up‐regulating expression of metastasis‐related proteins. Thus, AFP may be used as a novel therapeutic target for treating HCC patients.
MicroRNA‐503 promotes angiotensin II‐induced cardiac fibrosis by targeting Apelin‐13
Authors: Zhou Yuhong , Deng Lin , Zhao Dandan , Chen Lanlan , Yao Zhen , Guo Xiaowei , Liu Xue , Lv Lifang , Leng Bing , Xu Wei , Qiao Guofen , Shan Hongli 
Published: January 2016

AbstractCardiac fibrosis is a major cause of heart failure. MicroRNAs (miRs) are important epigenetic regulators of cardiac function and cardiovascular diseases, including cardiac fibrosis. This study aimed to explore the role of miR‐503 and its mechanisms in regulating cardiac fibrosis. miR‐503 was found up‐regulated in the mouse LV tissues subjected to transverse aortic constriction (TAC) and in neonatal cardiac fibroblasts (CFs) cultured with Angiotension II. The role of miR‐503 in regulating CF cell proliferation and/or collagen production in mice neonatal CFs were determined using an MTT assay and RT‐PCR respectively. Forced expression of miR‐503 increased the cellular proliferation and collagen production in mice neonatal CFs. The effects were abrogated by cotransfection with AMO‐503 (a specific inhibitor of miR‐503). Injection of antagomiR‐503 elevated cardiac function and inhibited the expression of connective tissue growth factor (CTGF) and transforming growth factor (TGF)‐β in the TAC mice. Additional analysis revealed that Apelin‐13 is a direct target of miR‐503, as the overexpression of miR‐503 decreased the protein and mRNA expression levels of Apelin‐13. In the CFs with pre‐treatment of AngII, we transfected AMO‐503 into the cells treated with siRNA‐APLN. siRNA‐APLN abolished the effects of AMO‐503 on the production of collagen I and III and the expression of TGF‐β and CTGF. Furthermore, pre‐treatment of CFs with Apelin‐13 (1–100 nmol/l) inhibited angiotensin II‐mediated collagen production and activation of CTGF and TGF‐β. So we conclude that miR‐503 promotes cardiac fibrosis via miR‐503‐Apelin‐13‐TGF‐β‐CTGF‐collagen production pathway. Thus, miR‐503 is a promising therapeutic target for reducing cardiac fibrosis.
Magnetic Bead‐Based Immunoassay Coupled with Tyramide Signal Amplification for Detection of Salmonella in Foods
Authors: Herzig Gene P. D. , Aydin Muhsin , Dunigan Samantha , Shah Parth , Jeong Kwang Cheol , Park Si Hong , Ricke Steven C. , Ahn Soohyoun 
Published: January 2016

AbstractSalmonella is the leading cause of bacteria‐associated foodborne illnesses in the United States. Early detection of this pathogen by a rapid and sensitive assay is important to prevent salmonellosis. In this study, we describe a magnetic bead‐based immunoassay for detection of Salmonella consisting of immunomagnetic separation for simple target concentration with tyramide signal amplification to increase the assay sensitivity. The developed immunoassay was able to detect Salmonella Typhimurium in culture with the detection limit of 280 CFU/mL in less than 3 h without any enrichment and further decreased to 70 CFU/mL with 3 h enrichment. When tested with ground beef and poultry samples artificially contaminated with S. Typhimurium and Enteritidis, the assay showed increased detection limits with 800 and 200 CFU/mL, respectively, due to the effect of complex food matrices. However, when 12 h enrichment was added, the detection limits in both food matrices decreased to 1 CFU.Practical ApplicationsThis study demonstrated that using immunomagnetic separation (IMS) and tyramide signal amplification can enhance sensitivity and specificity for the detection of Salmonella in food samples. The developed assay has great potential as a simple monitoring system for foodborne pathogens in food samples, which can improve food safety and public health. The results were also compared with sandwich type enzyme‐linked immunosorbent assay, which showed the developed assay is approximately 50 times more sensitive than enzyme‐linked immunosorbent assay.