bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chronic neuronopathic type of Gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement
Authors: Botross Nevein Philip , Riad Amgad Abadir , Viswanathan Shanthi , Nordin Rusli Bin , Lock HN 
Published: March 2014

Introduction Gaucher’s disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher’s disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic–clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life. Case presentation We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement. Conclusion Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy.
Societal‐level Risk Factors Associated with Pediatric Hearing Loss: A Systematic Review
Authors: Vasconcellos Adam P. , Colello Stephanie , Kyle Meghann E. , Shin Jennifer J. 
Published: March 2014

ObjectiveTo determine if the current body of evidence describes specific threshold values of concern for modifiable societal‐level risk factors for pediatric hearing loss, with the overarching goal of providing actionable guidance for the prevention and screening of audiological deficits in children.Data SourcesThree related systematic reviews were performed. Computerized PubMed, Embase, and Cochrane Library searches were performed from inception through October 2013 and were supplemented with manual searches.Review MethodsInclusion/exclusion criteria were designed to determine specific threshold values of societal‐level risk factors on hearing loss in the pediatric population. Searches and data extraction were performed by independent reviewers.ResultsThere were 20 criterion‐meeting studies with 29,128 participants. Infants less than 2 standard deviations below standardized weight, length, or body mass index were at increased risk. Specific nutritional deficiencies related to iodine and thiamine may also increase risk, although data are limited and threshold values of concern have not been quantified. Blood lead levels above 10 µg/dL were significantly associated with pediatric sensorineural loss, and mixed findings were noted for other heavy metals. Hearing loss was also more prevalent among children of socioeconomically disadvantaged families, as measured by a poverty income ratio less than 0.3 to 1, higher deprivation category status, and head of household employment as a manual laborer.ConclusionsIncreasing our understanding of specific thresholds of risk associated with causative factors forms the foundation for preventive and targeted screening programs as well as future research endeavors.
Prevention of pulmonary embolisms associated with vena cava filter implantation
Authors: Han Bing , Ge Chang-qing , Zhang Hong-guang , Zhou Chen-guang , Ji Guo-hui , Yang Zheng , Zhang Liang 
Published: March 2014

Objective: To investigate the prevention of pulmonary embolism (PE) by the implantation of inferior vena cava filters (IVCFs). Methods: Data of 1058 patients treated for lower extremity deep vein thrombosis (DVT) between January 2005 and January 2012 were analyzed retrospectively and divided into those with and without PE. Results: Of the 1058 patients, 34 had PEs (3.2%) and 1024 did not. Multivariable analyses showed that PEs were less likely to occur in patients with IVCFs than in those without IVCFs (odd ratio [OR] =  0.028, P < 0.001), and were more likely to occur in patients with vena cava thrombosis than in those without vena cava thrombosis (OR =  19.094, P < 0.001). Analyses stratified by DVT site showed that vena cava thrombosis was the only risk factor of PE for patients with a left DVT (crude OR =  12.814, P < 0.001), and IVCF implantation was the only protective factor for PE for patients with a right or bilateral DVT (crude OR =  0.028, P =  0.001). IVCF patency rate for follow-up was 98.7% with no filter migration, declination, or failure of expansion. Conclusions: IVCFs can reduce the occurrence of PEs in patients with DVTs.
Unstimulated and glucose-stimulated ghrelin in depressed patients and controls
Authors: Paslakis Georgios , Westphal Sabine , Hamann Bettina , Gilles Maria , Lederbogen Florian , Deuschle Michael 
Published: March 2014

Introduction: The neuropeptide ghrelin stimulates hunger and weight gain. Ghrelin actions have been associated with depression in a number of preclinical and clinical studies, although some studies comparing basal peripheral ghrelin levels between depressed patients and controls found no differences between the groups. Methods: Twenty patients with a melancholic depressive episode and 15 controls received a 75 g glucose load and ghrelin levels were measured at 0, 30, 60 and 90 min after the beginning of the test. The patients were then either treated with mirtazapine ( n=10) or venlafaxine ( n=10) and underwent the same procedure (glucose load and ghrelin assessment) after four weeks of treatment. Results: Basal ghrelin concentrations did not differ between patients and controls, although the ghrelin responses following the glucose load were lower in patients and differed significantly to the controls’ responses. After treatment, the patients’ ghrelin responses to the glucose load increased by trend and approximated those in the control group. Conclusion: Ghrelin is involved in appetite-regulating pathways during depression. For the first time we show that a functional test procedure using a standardised glucose load is more suitable than the assessment of basal peripheral ghrelin levels to detect differences between diagnostic groups.
Immunohistochemical levels of cyclo-oxygenase-2, matrix metalloproteinase-9 and vascular endothelial growth factor in papillary thyroid carcinoma and their clinicopathological correlations
Authors: Meng Xian-Ying , Zhang Qiang , Li Qun , Lin Shan , Li Jie 
Published: March 2014

Objective To measure the levels of cyclo-oxygenase (COX)-2, matrix metalloproteinase (MMP)-9 and vascular endothelial growth factor (VEGF) immunostaining in papillary thyroid carcinoma (PTC) and benign thyroid tumours, and to investigate potential correlations between their levels and clinicopathological characteristics. Methods The levels of immunohistochemical staining of COX-2, MMP-9 and VEGF proteins were measured in tumours from patients with PTC and compared with specimens from patients with benign thyroid tumours. The association between the levels of COX-2, MMP-9 and VEGF proteins and clinicopathological characteristics in patients with PTC was also analysed. Results A total of 66 patients with PTC and 40 patients with benign thyroid tumours participated in the study. The rates of positive immunostaining for COX-2, MMP-9 and VEGF in PTC tumours were significantly higher than those in benign thyroid tumours. There were significant positive associations between positive immunostaining for COX-2, MMP-9 and VEGF proteins and age (≥45 years), clinical stage (III–IV) and tumour diameter (≥2 cm). Conclusion Combined immunohistochemical evaluation of the levels of COX-2, MMP-9 and VEGF in PTC might be a useful marker for the diagnosis of PTC.
Utilization of rapid infusion system with cold saline in the induction of therapeutic hypothermia
Authors: Jin Sung Woong , Choi Yoon Hee , Lee Dong Hoon 
Published: March 2014

Objective To examine the cooling effectiveness of a rapid infusion system (RIS) during induction of therapeutic hypothermia. Methods This laboratory study simulated the effect of three fluid delivery methods: rapid dripping without any other equipment (control); RIS; pressure bag. Cold energy loss (℃ × min) was calculated as: (temperature of the proximal thermoprobe – temperature of the distal thermoprobe) × (total infusion time). Results Infusion time was significantly shorter and cold energy loss significantly lower in the RIS group than in the two other groups. Conclusions RIS preserves the cold energy of fluid more effectively than pressure bag or control. RIS allows for rapid infusion at a constant pressure and can be easily applied in an emergency setting.
Redefinition of the human mast cell transcriptome by deep-CAGE sequencing
Authors: Motakis Efthymios , Guhl Sven , Ishizu Yuri , Itoh Masayoshi , Kawaji Hideya , de Hoon Michiel , Lassmann Timo , Carninci Piero , Hayashizaki Yoshihide , Zuberbier Torsten , Forrest Alistair R. R. , Babina Magda 
Published: March 2014

Key Points
Generated a reference transcriptome for ex vivo, cultured, and stimulated mast cells, contrasted against a broad collection of primary cells. Identified BMPs as function-modulating factors for mast cells.
Genome-wide association studies for hematological traits in Chinese Sutai pigs
Authors: Zhang Feng , Zhang Zhiyan , Yan Xueming , Chen Hao , Zhang Wanchang , Hong Yuan , Huang Lusheng 
Published: March 2014

AbstractBackgroundIt has been shown that hematological traits are strongly associated with the metabolism and the immune system in domestic pig. However, little is known about the genetic architecture of hematological traits. To identify quantitative trait loci (QTL) controlling hematological traits, we performed single marker Genome-wide association studies (GWAS) and haplotype analysis for 15 hematological traits in 495 Chinese Sutai pigs.ResultsWe identified 161 significant SNPs including 44 genome-wide significant SNPs associated with 11 hematological traits by single marker GWAS. Most of them were located on SSC2. Meanwhile, we detected 499 significant SNPs containing 154 genome-wide significant SNPs associated with 9 hematological traits by haplotype analysis. Most of the identified loci were located on SSC7 and SSC9.ConclusionsWe detected 4 SNPs with pleiotropic effects on SSC2 by single marker GWAS and (or) on SSC7 by haplotype analysis. Furthermore, through checking the gene functional annotations, positions and their expression variation, we finally selected 7 genes as potential candidates. Specially, we found that three genes (TRIM58, TRIM26andTRIM21) of them originated from the same gene family and executed similar function of innate and adaptive immune. The findings will contribute to dissection the immune gene network, further identification of causative mutations underlying the identified QTLs and providing insights into the molecular basis of hematological trait in domestic pig.
High throughput sequencing of two celery varieties small RNAs identifies microRNAs involved in temperature stress response
Authors: Li Meng-Yao , Wang Feng , Xu Zhi-Sheng , Jiang Qian , Ma Jing , Tan Guo-Fei , Xiong Ai-Sheng 
Published: March 2014

Abstract

Background
MicroRNAs (miRNAs) are small, non-coding RNAs of 20 to 24 nucleotides that regulate gene expression and responses to biotic and abiotic stress. Till now, no reports have previously been published concerning miRNAs in celery.

Results
Two small RNAs libraries were constructed from two celery varieties, ‘Jinnan Shiqin’ and ‘Ventura’, and characterized by deep sequencing. A total of 431 (418 known and 13 novel) and 346 (341 known and five novel) miRNAs were identified in celery varieties ‘Jinnan Shiqin’ and ‘Ventura’, respectively. Potential miRNA-target genes were predicted and annotated by screening diverse protein databases, including Gene Ontology, Cluster of Orthologous Groups and Kyoto Encyclopedia of Genes and Genomes. Significant differential expression between the two varieties was seen for 221 miRNAs. qRT-PCR was used to analyze the abundance of six miRNAs under cold and heat stress conditions. The results showed that miRNAs may have important functions in controlling temperature stress in celery.

Conclusion
A large number of miRNAs were identified in celery, and their target genes, functional annotations, and gene expression patterns have been explored.
These findings provide the first information on celery miRNAs and enhance understanding of celery miRNA regulatory mechanisms under extreme temperature stress.
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V
Authors: Lazarus Syndia , McInerney-Leo Aideen M , McKenzie Fiona A , Baynam Gareth , Broley Stephanie , Cavan Barbra V , Munns Craig F , Pruijs Johannes Egbertus Hans , Sillence David , Terhal Paulien A , Pryce Karena , Brown Matthew A , Zankl Andreas , Thomas Gethin , Duncan Emma L 
Published: March 2014

Abstract

Background
The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation (c.-14C > T) in the 5’ untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. This mutation creates an alternative start codon and has been shown in a eukaryotic cell line to result in a longer variant of IFITM5, but its expression has not previously been demonstrated in bone from a patient with OI type V.

Methods
Sanger sequencing of the IFITM5 5’ UTR was performed in our cohort of subjects with a clinical diagnosis of OI type V. Clinical data was collated from referring clinicians. RNA was extracted from a bone sample from one patient and Sanger sequenced to determine expression of wild-type and mutant IFITM5.

Results
All nine subjects with OI type V were heterozygous for the c.-14C > T IFITM5 mutation. Clinically, there was heterogeneity in phenotype, particularly in the manifestation of bone fragility amongst subjects. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone.

Conclusions
The c.-14C > T IFITM5 mutation does not result in an RNA-null allele but is expressed in bone. Individuals with identical mutations in IFITM5 have highly variable phenotypic expression, even within the same family.
Quantum chemical assessment of benzimidazole derivatives as corrosion inhibitors
Authors: Obayes Hasan R , Alwan Ghadah H , Alobaidy Abdul Hameed MJ , Al-Amiery Ahmed A , Kadhum Abdul Amir H , Mohamad Abu Bakar 
Published: March 2014

AbstractBackgroundThe majority of well-known inhibitors are organic compounds containing multiple bonds and heteroatoms, such as O, N or S, which allow adsorption onto the metal surface. These compounds can adsorb onto the metal surface and block active surface sites, reducing the rate of corrosion.ResultsA comparative theoretical study of three benzimidazole isomers, benzimidazole (BI), 2-methylbenzimidazole (2-CH3-BI), and 2-mercaptobenzimidazole (2-SH-BI), as corrosion inhibitors was performed using density functional theory (DFT) with the B3LYP functional basis set.ConclusionsNitro and amino groups were selected for investigation as substituents of the three corrosion inhibitors. Nitration of the corrosion inhibitor molecules led to a decrease in inhibition efficiency, while reduction of the nitro group led to an increase in inhibition efficiency. These aminobenzimidazole isomers represent a significant improvement in the inhibition efficiency of corrosion inhibitor molecules.
Photothermogenic Properties of Different-Sized Gold Nanoparticles for Application to Photothermal Therapy
Authors: Kojima Chie , Oeda Naoya , Ito Syoji , Miyasaka Hiroshi , Iida Takuya 
Published: March 2014

Abstract
Gold nanoparticles (Au NPs) have applications to photothermal therapy because of their photothermogenic properties. The photoresponsiveness of Au NPs is largely affected by their size. The photothermogenic properties of different-sized Au NPs were investigated. The Au NPs with approximately 50 nm diameter exhibited the most efficient photothermogenic activity, which was apparent from their in situ photocytotoxicity against HeLa cells.
Synthesis, Structure, and Magnetic Property of a New Mononuclear Iron(II) Spin Crossover Complex with a Tripodal Ligand Containing Three 1,2,3-Triazole Groups
Authors: Hagiwara Hiroaki , Minoura Ryo , Okada Shohei , Sunatsuki Yukinari 
Published: March 2014

Abstract
A novel mononuclear iron(II) complex of a 1,2,3-triazole-containing ligand, [FeIILPh](NTf2)2 [LPh: tris(2-{[(1-phenyl-1,2,3-triazol-4-yl)methylidene]amino}ethyl)amine and NTf2: bis(trifluoromethanesulfonyl)imide], was synthesized. The complex shows a gradual one-step spin crossover at around room temperature with T1/2 = 280 K. The complex cations, [FeIILPh]2+, are linked via CH/π and π–π interactions forming a two-dimensional layer. The cationic layers are linked together by NTf2− ions via CH···X (X = N, O, and F) hydrogen-bonding interactions to form an extended three-dimensional structure.
Photoinduced Multiple Spectral Changes of Single Plasmonic Gold Nanospheres by the Aid of Coordination
Authors: Tanabe Ichiro , Tatsuma Tetsu 
Published: March 2014

Abstract
One or both of two localized surface plasmon modes (full-surface mode and interface mode) of a commercially available single Au nanosphere on TiO2 are excited, and the corresponding spectral changes are induced in the presence of thiocyanate. Similar spectral changes can be simulated by assuming site-selective oxidation of the Au nanosphere by plasmon-induced charge separation (PICS).
Amino Acid-assisted One-dimensional Assembly of Semiconducting Metal Oxide Nanoparticles in Aqueous Alcohol Media
Authors: Wang Junzheng , Yabe Hiroki , Shimojima Atsushi , Sekiguchi Takashi , Sugawara-Narutaki Ayae , Okubo Tatsuya 
Published: March 2014

Abstract
A facile approach to prepare the nanochains of semiconducting metal oxide (SnO2, CeO2, and TiO2) nanoparticles is presented. The addition of amino acid and alcohol to the corresponding sols adjusts the interparticle interactions, leading to their one-dimensional assembly.
Four measures of treatment compliance among patients recovering from psychotic episodes – a comparative study
Authors: Wciórka Jacek , Friemann Karolina 
Published: March 2014

CelRealizowanie zaleceń lekarskich wpływa na wyniki leczenia zaburzeń psychicznych. Celem pracy było porównanie przydatności czterech miar oceny przestrzegania zaleceń.MetodaZbadano 103 osoby po przebytym kryzysie psychotycznym (schizofrenia, zaburzenia schizoafektywne). Porównywano przestrzeganie zaleceń psychofarmakoterapeutycznych oceniane za pomocą prostych skal: 5-przedziałowej POP (ocena pacjenta), 7-przedziałowej POK (ocena klinicysty) oraz 2 popularnych, złożonych kwestionariuszy: „Inwentarza postawy wobec leku” (DAI-10) i „Skali oceny wypełniania zaleceń lekowych” (MARS). Krzywej ROC użyto do analizy czułości i swoistości przewidywania prostych ocen klinicysty lub pacjenta za pomocą wyników DAI-10 i MARS.WynikiOdsetek pacjentów realizujących zalecenia wahał się od 42,8% do 62% (20,4-26,2% przy zaostrzonych kryteriach). W uproszczeniu można uznać, że w okresie miesiąca poprzedzającego hospitalizację około połowa badanych respektowała zalecenia. POK wykazywało silniejszą korelację (0,50) z POP (POP) niż z ocenami wg DAI-10 (0,30) czy MARS (0,36). POP słabo korelowała z oceną wg DAI-10 (0,23) i MARS (0,32). Korelacja między MARS a DAI-10 była wysoka (0,67) a ich rzetelność (współczynnik α Cronbacha ) umiarkowanie przekraczała poziom uważany za satysfakcjonujący (DAI-10: α=0,76) lub zbliżała się do niego (MARS: α=0,61). Pole pod krzywą (AUC) dla DAI i dla MARS wskazuje na ich porównywalną i nieprzypadkową (p<0,005) wartość diagnostyczną. Wyniki DAI i MARS przekraczające 7,5 punkta wykazują optymalna relację czułości i swoistości w przewidywania oceny klinicysty i pacjenta.WnioskiOkoło połowa badanych (co czwarty z nich w przypadku mocniejszych wymagań) przestrzegała zaleceń dotyczących przyjmowania leków. Korelacja pomiędzy kwestionariuszowymi ocenami respektowania zaleceń jest stosunkowo wysoka, pozostałe dwa użyte narzędzia korelują słabiej. DAI-10 i MARS wykazują umiarkowaną rzetelność, czułość i swoistość.
How to Hear a Film
Authors: Wachtel Edward 
Published: March 2014

Abstract
This article explores the expressiveness, the biases and the limitations of the visual and aural modalities and examines the ways sound and visual images may be joined to create meanings in the cinema. The focus is on meanings that could not be made or carried by the visual image alone. The piece provides an interpretive approach to cinema that is based in the filmmakers’ intentions and offers some criteria for judging the aesthetic value and success of the sound track. The author presents brief analyses of American commercial films to serve as examples of skillful and original sound–image relationships.
Gitelman syndrome during pregnancy – from diagnosis to treatment: a case series and review of the literature
Authors: Shinar Shiri , Gal-Oz Amir , Weinstein Talia , Levin Ishai , Maslovitz Sharon 
Published: March 2014

Abstract

Objective: Gitelman syndrome (GS) is a rare renal disease, originating from a defect in the Na-Cl co-transporter in the distal tubule, which causes hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and low-normal blood pressure. Mild hypokalemia of pregnancy is physiological. Fatigue, nausea, vomiting, polyuria and low blood pressures are also common complaints associated with a normal pregnancy. Therefore, the diagnosis of an organic renal disorder, i.e., GS, may go undetected, until severe hypokalemia and possible life-threatening cardiac arrhythmias develop. Maternal consequences are obvious. The possibility of fetal pathology remains unclear.

Study design: In this study, we describe nine pregnancies in seven women with a clinical diagnosis of GS. Nearly all women were diagnosed initially during pregnancy. We describe their clinical presentation, serum and urine electrolyte levels during pregnancy and immediately post-partum, their treatment and pregnancy outcome.

Results: Fetal pregnancy outcomes were mostly favorable. While it is likely that women suffering from GS do not require special fetal surveillance, they are at high risk for electrolyte depletion and thus aggravation of GS during pregnancy.

Conclusion: Clinical suspicion of GS should arise in all women presenting with symptomatic hypokalemia. Once the diagnosis is made, adequate supplementation and routine maternal monitoring should ensue.
Extraordinary weight gain: initial finding in a patient with peripartum cardiomyopathy
Authors: Endo Daisuke , Morikawa Mamoru , Sakakibara Mamoru , Sugita Tsubasa , Yamada Takahiro , Minakami Hisanori 
Published: March 2014

Abstract
Extraordinary weight gain may be an initial finding in some patients with peripartum cardiomyopathy (PPCM). This case highlights the need for studies of the relationship between degrees of antenatal weight gain and risk of PPCM. A 33-year-old woman exhibited weight gain of 1.0 kg/week (38.5–60.6 kg) between gestational weeks (GW) 12+2 and 33+2 at which dyspnea appeared. Her body weight further increased to 69.1 kg at GW 34+2 at which echocardiography revealed left ventricular dysfunction (ejection fraction=27%, fractional shortening=4.0%). She then lost 24 kg in body weight by 4 weeks postpartum.