bluuebunny/crossref_metadata_2025_split huggingface dataset:
Enabling a Genetically Informed Approach to Cancer Medicine: A Retrospective Evaluation of the Impact of Comprehensive Tumor Profiling Using a Targeted Next-Generation Sequencing Panel
Authors: Johnson Douglas B. , Dahlman Kimberly H. , Knol Jared , Gilbert Jill , Puzanov Igor , Means-Powell Julie , Balko Justin M. , Lovly Christine M. , Murphy Barbara A. , Goff Laura W. , Abramson Vandana G. , Crispens Marta A. , Mayer Ingrid A. , Berlin Jordan D. , Horn Leora , Keedy Vicki L. , Reddy Nishitha M. , Arteaga Carlos L. , Sosman Jeffrey A. , Pao William 
Published: May 2014

Abstract

Background.
Oncogenic genetic alterations “drive” neoplastic cell proliferation. Small molecule inhibitors and antibodies are being developed that target an increasing number of these altered gene products. Next-generation sequencing (NGS) is a powerful tool to identify tumor-specific genetic changes. To determine the clinical impact of extensive genetic analysis, we reviewed our experience using a targeted NGS platform (FoundationOne) in advanced cancer patients.

Patients and Methods.
We retrospectively assessed demographics, NGS results, and therapies received for patients undergoing targeted NGS (exonic sequencing of 236 genes and selective intronic sequencing from 19 genes) between April 2012 and August 2013. Coprimary endpoints were the percentage of patients with targeted therapy options uncovered by mutational profiling and the percentage who received genotype-directed therapy.

Results.
Samples from 103 patients were tested, most frequently breast carcinoma (26%), head and neck cancers (23%), and melanoma (10%). Most patients (83%) were found to harbor potentially actionable genetic alterations, involving cell-cycle regulation (44%), phosphatidylinositol 3-kinase-AKT (31%), and mitogen-activated protein kinase (19%) pathways. With median follow-up of 4.1 months, 21% received genotype-directed treatments, most in clinical trials (61%), leading to significant benefit in several cases. The most common reasons for not receiving genotype-directed therapy were selection of standard therapy (35%) and clinical deterioration (13%).

Conclusion.
Mutational profiling using a targeted NGS panel identified potentially actionable alterations in a majority of advanced cancer patients. The assay identified additional therapeutic options and facilitated clinical trial enrollment. As time progresses, NGS results will be used to guide therapy in an increasing proportion of patients.
Aerobic oxidation of cumene catalysed by 4-alkyloxycarbonyl-N-hydroxyphthalimide
Authors: Kasperczyk Kornela , Orlińska Beata , Zawadiak Jan 
Published: May 2014

Abstract
4-Hexyloxycarbonyl-, 4-dodecyloxycarbonyl- and 4-hexadecyloxycarbonyl-N-hydroxyphthalimides were synthesised using trimellitic anhydride chloride as the starting material. The obtained lipophilic derivatives of N-hydroxyphthalimide were applied as catalysts of the cumene oxidation reaction with oxygen performed in polar acetonitrile, in non-polar tert-butylbenzene and in the absence of a solvent. The courses of reactions catalysed by N-hydroxyphthalimide and its derivatives were compared.
Metals content of soil, leaves and wild fruit from Serbia
Authors: Randjelovic Sasa , Kostic Danijela , Stojanovic Gordana , Mitic Snezana , Mitic Milan , Arsic Biljana , Pavlovic Aleksandra 
Published: May 2014

Abstract
The concentrations of Zn, Mn, Fe, Pb, Ni, Cu and Cd in soil, leaves and edible wild fruit (Crataegus laevigata L., Cornus mas L. and Prunus spinosa L.) from southeast Serbia were determined by atomic absorption spectroscopy. Metal translocations from soil to fruit were calculated as well as their oral intake and health risk indices. Positive correlations were found among metal concentrations in soil, leaves and fruit.
Transient electro-osmotic flow of generalized Maxwell fluids in a straight pipe of circular cross section
Authors: Wang Shaowei , Zhao Moli , Li Xicheng 
Published: May 2014

Abstract
The transient electro-osmotic flow of a generalized Maxwell fluid with fractional derivative in a narrow capillary tube is examined. With the help of an integral transform method, analytical expressions are derived for the electric potential and transient velocity profile by solving the linearized Poisson-Boltzmann equation and the Navier-Stokes equation. It was shown that the distribution and establishment of the velocity consists of two parts, the steady part and the unsteady one. The effects of relaxation time, fractional derivative parameter, and the Debye-Hückel parameter on the generation of flow are shown graphically and analyzed numerically. The velocity overshoot and oscillation are observed and discussed.
Fannin-Lubbock-I [α2β2119(GLY>ASP)], a rare mutation in the beta-globin gene, has been detected for the first time in a Hindu Brahmin family in West Bengal, India
Authors: Basak Jayasri , Bhattacharyya Deboshree , Mukhopadhyay Ashis 
Published: May 2014

AbstractThis study aims to describe the hemoglobin Fannin-Lubbock-I, which has a rare mutation substituting the amino acid glycine with aspartic acid at codon 119 of the β-globin chain. A Bengalee Hindu Brahmin family from Kolkata in West Bengal was the focus of this study. Molecular analysis using ARMS-PCR and direct DNA sequencing revealed the presence of a GGC > GAC mutation in codon 119 of the β-globin gene in a heterozygote state in three women of the same family. This is the first report of the hemoglobin Fannin-Lubbock-I from India. Our results will help to identify this mutation, which is relatively infrequent in our population.
Kinetics of enantioselective liquid-liquid extraction of phenylglycine enantiomers using a BINAP-copper complex as chiral selector
Authors: Zhang Pan-Liang , Luo Jing-Jing , Tang Ke-Wen , Yi Jian-Min 
Published: May 2014

AbstractKinetic study of reactive extraction of phenylglycine (PhgH) racemate with S-BINAP ((S)-(−)-2,2′-bis(diphenylphosphino)-1,1′-binaphthalene)-copper complex (BINAP-Cu) as the chiral selector was performed in a modified Lewis cell. The theory of extraction accompanied by a chemical reaction was applied to achieve insightful understanding of the extraction process. The effects of agitation speed, interface area, pH value of the aqueous phase, initial concentration of PhgH racemate, and initial concentration of BINAP-Cu on the specific rate of extraction were investigated. An extraction course was simulated based on the rate equations. The forward rate constants of 3.14 × 10−5 m3.4 mol−0.7 s−1 for R-PhgH and 4.03 × 10−5 m3.4 mol−0.7 s−1 for S-PhgH, respectively, were found. The modeled extraction course was in good agreement with the experimental one.
A new monitoring technique for the grounding grids
Authors: Chikarov Y. , Lie T. , Nair N. 
Published: May 2014

AbstractThe performance and reliability of grounding grids depend on its structural integrity. If grounding conductors are damaged, it may cause misoperation of protective relay which leads to trip feeders unnecessarily. It can also cause not only failures on the surroundings such as the grounding grid, secondary circuits’ cables, and structural elements but also voltage hazard for human. The circuits may attain unacceptable voltages when short-circuit fault currents occur in these grids. This paper presents the development of a new technique to monitor the operating conditions of the grounding grids of high voltage apparatus and systems without any diggings and forced outages. New concept, principals, a technique and a device shown in the paper have never been described before by the other authors. The technique is based on the evaluation of the electromagnetic field distribution pattern over the damaged horizontal elements of the grid.
Fe2+- and Er2+-intercalative modification of porous and electron structure of activated carbon and its influence on supercapacitor parameters
Authors: Venhryn B. , Grygorchak I. , Kulyk Yu. , Mudry S. , Strelchuk V. , Budzulyak S. , Dovbeshko G. , Fesenko O. 
Published: May 2014

Abstract
An influence of both porous and electron structure on the processes in an electric double layer (EDL) determining the main working parameters of carbon-based supercapacitors has been studied in order to improve them. The investigations involved impedance spectroscopy, X-ray small angle scattering, confocal micro-Raman spectroscopy, infra-red and Mössbauer spectroscopy. Fe2+- and Er2+-intercallative modifications of nanoporous carbon were performed. It was found that the modification process characteristics correlated with the structure parameters of the EDL.
Structural and elastic properties of TiN and AlN compounds: first-principles study
Authors: Fodil Meriem , Mounir Amine , Ameri Mohammed , Baltache Hadj , Bouhafs Bachir , Al-Douri Y. , Ameri Ibrahim 
Published: May 2014

Abstract
First-principles calculations of the lattice constants, bulk modulus, pressure derivatives of the bulk modulus and elastic constants of AlN and TiN compounds in rock-salt (B1) and wurtzite (B4) structures are presented. We have used the fullpotential linearized augmented plane wave (FP-LAPW) method within the density functional theory (DFT) in the generalized gradient approximation (GGA) for the exchange-correlation functional. Moreover, the elastic properties of cubic TiN and hexagonal AlN, including elastic constants, bulk and shear moduli are determined and compared with previous experimental and theoretical data. Our results show that the structural transition at 0 K from wurtzite to rock-salt phase occurs at 10 GPa and −26 GPa for AlN and TiN, respectively. These results are consistent with those of other studies found in the literature.
Sensor properties of ZnO:Al nanofibres obtained by electrospinning
Authors: Maziarz Wojciech , Rydosz Artur , Wysocka Kinga , Pisarkiewicz Tadeusz 
Published: May 2014

Abstract
An electrospinning technology have been developed to obtain zinc oxide nanofibres doped with aluminum. Properties of the obtained nanostructures can be controlled by both the composition of a precursor and subsequent annealing treatment. The gas sensors manufactured with the use of ZnO:Al nanofibres exhibit good response to NO2 at relatively low operating temperatures. For some samples it was observed that interaction with ambient NO2 gas causes the change of conductivity from n-type to p-type at higher operating temperatures. This phenomenon was not observed for the samples annealed at higher temperature.
Profile of Color Vision Defects in a Tertiary Care Hospital in Western Nepal
Authors: Godar ST , Kaini KR , Khattri JB 
Published: May 2014

Background: Significant numbers of people suffer from color vision defect but most of the time remains an unnoticed problem. The present work was undertaken to study the profile of color vision defects in Western region of Nepal. Methods: This is a cross-sectional, hospital based study conducted in a tertiary care hospital of Western Nepal from January 2012 to December2012. Total of 971 patients were selected by simple random method. In each patient assessment of visual acuity and the examination of anterior segment and posterior segment was done. Color vision was tested by Ishihara Pseudo isochromatic chart. Results: Out of total 971 patients, 501 were males (51.59%) and 470were females (48.40%). Out of this total, 91 (9.37%) had color vision defects. Among the color vision defects patients,68were males (74.72%)and 23 were females (25.27%). Congenital color vision defect was seen in 10.97% of males and 2.97% of females whereas acquired color vision defect was observed in 2.57% of males and 1.91% of females respectively. Color vision defects were observed more in Chhetri (14.38%), followed by Brahmin (10.16%) and Magar caste (9.89%). Conclusion: The prevalence of color vision defect in Nepal is significant. All people should be screened for color vision defect and advised about it so that they can take special care in daily practice as well as in future life Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 1-4 DOI: http://dx.doi.org/10.3126/njms.v3i1.10340
A Comparative study to quantify the area of obturating material, sealer and voids in root canals obturated with Resilon/Epiphany and gutta-percha with different sealers
Authors: Vikram M , Shetty N , Singh VP 
Published: May 2014

Background: Complete obturation of the root canal with an inert filling material and creation of a fluid-tight seal are among the major goals of successful endodontic treatment. Methods: Extracted mandibular premolar teeth were decoronated, prepared in a crown-down fashion and irrigated with 2.5% sodium hypochlorite and 17% EDTA. The specimens were randomly assigned into 4groups (n=10/each) and obturated with gutta-percha and Resilon/Epiphanywith different sealers. Horizontal sections were obtained of the coronal, middle and apical third at levels of 14-mm, 8-mm and 2-mm from the apex respectively and were viewed under magnification. The area of obturating material, sealer and voids were calculated using Image Jsoftware. Statistical comparisons between the Resilon and gutta-percha groups were made with Kruskal-Wallis Test and intergroup comparisions were made by Mann-Whitney U test with Bonferroni correction. Results: The results of this study showed that root canals obturated with gutta-percha or Resilon with Epiphany as sealer had significantly less area of sealer plus voids and voids alone as compared to root canals obturated with gutta-percha and AH Plus as sealer or gutta-percha and GuttaFlow. Conclusion: From the results of this study it can be concluded that methacrylate resin-based sealer Epiphany will lead to a better obturation of the root canals and adhesive sealers hold a better prospective. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 8-13 DOI: http://dx.doi.org/10.3126/njms.v3i1.10342
Operative Treatment of Spontaneous Pneumothorax and Persistent Air Leaks – The Thoracoscopic Approach
Authors: Thapa B 
Published: May 2014

Background: Spontaneous pneumothoraces are common thoracic surgical problems and when complicated by recurrences and persistent air leaks are often difficult to treat. While conservative non-operative methods were favored in the past, thoracoscopy has made operative treatment more successful, easier and less painful. We reviewed our experience withthoracoscopic management of spontaneous pneumothorax. Methods: We analyzed the retrospective data from the patients who received Video-Assisted Thoracoscopic Surgery for spontaneous pneumothoraces from January 2012 to January 2013 at Manmohan Cardio-thoracic Vascular and Transplant Center. Results: The male to female ratio was 6:1 with mean age 33 years (minimum17 years to maximum70 years). The ratio of primary spontaneous to secondary spontaneous was 5:2. Seventeen of 21 patients had air leaks at operation. Seven of 15 patients with primary spontaneous and 4/6 with secondary spontaneous had prior two or more episodes of pneumothorax. Blebs/ bullae were found in 18/21 patients. In 9/18 patients, the bullae/blebs were stapled while in seven, they were plicated. Only pleurodesis was done in the remaining patients. Additional procedures in the form of decortications were required in three. The chest tube was removed by the second post operative day in 13/21 patients. Prolonged chest tube was required in three patients (persistent leak in two and collection in one patient). One patient needed a subsequent thoracotomy and decortication. Conclusion: Thoracoscopic approach to spontaneous pneumothoraces and persistent air leaks is feasible and safe. Plication of bullae/ blebs can be a viable alternative when stapling devices are not available. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 14-18 DOI: http://dx.doi.org/10.3126/njms.v3i1.10343
Comparision of Antibiotic Susceptility of Levofloxacin with Other Commonly Tested Antibiotics Against Salmonella Enterica Serovar (Typhi And Paratyphi A)
Authors: Chhetri A , Manandhar A , Shah Y , Simkhada RC , Paudyal R , Amatya J , Shrestha J 
Published: May 2014

Background: Increasing antibiotic resistance of bacteria is a global problem. Fluoroquinolones are recommended as first line therapy for children and adults infected with Salmonella enterica serovar Typhi and Paratyphi A. The purpose of this study was to compare the antibiotic susceptibility pattern of different classes of antibiotics with levofloxacin from blood samples of suspected enteric fever patients visiting Birhospital, Kathmandu. Methods: Antibiotic susceptibility test was performed by Kirby-Bauerdisc diffusion method as per Clinical Laboratory Standards Institute guideline. Results: Among 50 isolates of Salmonella enterica, 39 (78%) were S.Typhi and 11 (22%) were S. Paratyphi A. All the isolates were tested against antibiotics, and all isolates were found sensitive to chloramphenicol and ceftriaxone whereas 3 isolates of S. Typhi were resistant to ciprofloxacin and 1 was resistant to levofloxacin. Fluoroquinolone resistant S. ParatyphiA was not observed. Among the 10 (20%) multi drug resistant isolates, only 1 isolate was resistant to levofloxacin which was S. Typhi. Both S.Typhi (96.7%) and S. Paratyphi A (89.4%) were resistant to Nalidixic acid. Conclusion: High level of nalidixic acid resistance and even some fluoroquinolone resistance showed that the treatment of the enteric fever cannot be relied on the fluoroquinolones. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 19-21 DOI: http://dx.doi.org/10.3126/njms.v3i1.10344
Knowledge, Attitude and Practice Survey Tool for Intellectual Disability (KAP-ID)
Authors: Lakhan R 
Published: May 2014

Background: Community based rehabilitation approach is very popular in providing rehabilitation services to the people with intellectual disability in low and middle income countries. It is useful to assess level of knowledge, attitude and practices of parents and relatives of people with intellectual disabilities for strategic planning of the program. Method: series of meetings, focus groups and in-depth interviews with the professionals employed in community based rehabilitation project and workers, and community members were conducted. Common questions around the issues related with intellectual disabilities were collected and discussed. These questions were refined with consultation, references with existing literature and field testing. Result: We have developed and tested a Knowledge, Attitude and Practice survey tool for Intellectual Disability (KAP-ID) in a resource poor setting of a middle income country, India. This tool contains fifteen questions. Conclusion: This brief survey tool is helpful in assessing knowledge, attitude and practices of parents, relatives and also of the community on intellectual disabilities. Information gained through the survey on KAPID found to be useful in designing the behavioral, awareness, educational, health promotional, and interventional program for the population with intellectual disabilities in rural poor settings. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 22-25 DOI: http://dx.doi.org/10.3126/njms.v3i1.10345
Factors affecting Early Age Marriage in Dhankuta Municipality, Nepal
Authors: Sah RB , Gaurav K , Baral DD , Subedi L , Jha N , Pokharel PK 
Published: May 2014

Background: Child marriage is a substantial barrier to social and economic development in Nepal, and a primary concern for women’s health. Little evidence from Nepal is available regarding the ways in which early marriage may compromise young women’s lives and their reproductive health and choices. The objectives of this study was to find out the factors associated with early age marriages in Dhankuta Municipality. Methods: The cross-sectional study was conducted among the residents of Dhankuta municipality, Nepal; where 246 households were taken as subjects. Pretested semi-structured questionnaire was administered to the study subjects and face to face interview was conducted. Chi-square test was applied to find out the association between factors and age of marriages. Results: Almost 53.3% of women were married before age 18 years. Education of wife and husband, and economic status are found to be the important variables in explaining early age marriage. Prevalence of child marriage was higher in Hindu than in Buddhist and Christian women but the difference was not significant. Age of marriage was not significantly associated with contraceptive use. Unwanted pregnancies were higher in early age marriage. It was also seen that unwanted pregnancies was higher (59.3%) than wanted pregnancies (48.6%). Conclusion: The findings of the study indicate that early age marriage was associated with low education and being poor. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 26-30 DOI: http://dx.doi.org/10.3126/njms.v3i1.10354
Conventional vestibular function tests vs. butterfly vestibulometry in peripheral vertigo
Authors: Sharma V , Shah RK 
Published: May 2014

Background: To perform conventional vestibular function tests & butterfly vestibulometry via electronystagmography (E.N.G.) in patients diagnosed clinically as suffering from peripheral vertigo. To rule out the presence of a central lesion in clinically diagnosed patients of peripheral vertigo. Methods: This is a prospective, cross-sectional, case series study conducted in 50 normal subjects and 138 patients clinically diagnosed as suffering from peripheral vertigo (excluding benign paroxysmal positional vertigo), who were subjected to conventional vestibular function tests &butterfly vestibulometry. Results: Conventional bithermal caloric test identified a nystagmus in 13.04% patients while E.N.G. assisted bithermal caloric test identified anystagmus in 91.30% patients. Thus in our study the sensitivity of identifyinga nystagmus increased 7 times when comparing conventional bithermal caloric test to E.N.G. assisted caloric test. During E.N.G., amongthe pathological group 8.96% had normal response, 80.43% had a peripheral lesion, 7.97% had a central lesion and 2.89% had a non-localizing lesion. Among the control group 96% had normal response and 4% had a peripheral lesion. Among the 11 central causes of vertigo diagnosed by E.N.G., 4 cases were also diagnosed by M.R.I. of brain but in 7 cases(63.63%) no structural pathology was seen. Conclusion: E.N.G. has 7 times more sensitivity to elicit nystagmus when compared to Fitzgerald Hallpike bithermal caloric test. E.N.G. can pick up central causes for vertigo amongst cases clinically diagnosed asperipheral vertigo. It has a better sensitivity to diagnose a central cause for vertigo when compared to M.R.I. of brain. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 31-37 DOI: http://dx.doi.org/10.3126/njms.v3i1.10355
A very rare association of hereditary breast cancer-pregnancy associated, with familial conjoined twin of rarest variety
Authors: Biswas J , Mandal GK , Mukhopadhyay AK , Dewan K , Chakrabarti S , Dash S 
Published: May 2014

Pregnancy-associated breast cancer (PABC) is itself a rare entity and even has very rare familial association. Here not only we report a case of PABC in a young lady but another incidental finding of rarest type of conjoined twin classified as dicephalus dibrachius dipus revealed during medical termination of pregnancy. Ultimately at the same time we managed to retrieve a familial association with both neoplastic and non neoplastic conditions from her family pedigree. Nepal Journal of Medical Sciences | Volume 03 | Number 01 | January-June 2014 | Page 68-71 DOI: http://dx.doi.org/10.3126/njms.v3i1.10363