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Vinci Ng 서울대학교 교육연구소 2012 Asia Pacific Education Review Vol.13 No.1
This article reports the findings of a qualitative study that investigates why some local Hong Kong parents decide to give up local education and send their children to international schools in Hong Kong. Data were gathered from 25 parents across eight selected school sites grouped as four cases based on the continental origins of those international schools. Data were analyzed by applying the inductive data analysis model of Miles and Huberman (Qualitative data analysis: an expanded sourcebook. Sage, London 1994). Ten propositions were developed within four emergent fields. The propositions developed led to recommendations for practice and for future studies, which may have the potential to influence changes to education policy to better meet the needs of local Hong Kong students.
Identification of novel mutations in L1CAM gene by a DHPLC-based assay
Mirella Vinci,Michele Falco,Lucia Castiglia,Lucia Grillo,Angela Spalletta,Maurizio Sturnio,Ornella Galesi,Michele Salemi,Angelo Gloria,Silvestra Amata,Maria Piccione,Vincenzo Antona,Girolamo Aurelio V 한국유전학회 2016 Genes & Genomics Vol.38 No.12
X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases mainly affecting male population and broadly referred as L1 syndrome, caused by mutations in the L1CAM gene. In the present study 36 boys and a male fetus whose clinical features were consistent with L1 syndrome were analyzed by dHPLC assay and direct sequencing of L1CAM gene. Sequence analysis of the 14 different aberrant dHPLC elution profiles demonstrated that six of them were associated with already reported polymorphisms, four with previously described causative variants while the remaining four represented novel L1CAM mutations. The dHPLC method proposed identified eight (21 %) causative L1CAM mutations in our patients while direct sequencing failed to detect any variation in patients negative to dHPLC analysis. We conclude that the dHPLC assay represents a fast and efficient method for the screening of L1CAM mutations and that L1 syndrome should be considered in the differential diagnosis of intellectual disability in children, especially when other signs such as hydrocephalus or adducted thumbs are present.
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
Francesco Calì,Giuseppa Ruggeri,Mirella Vinci,Concetta Meli,Carla Carducci,Vincenzo Leuzzi,Simone Pozzessere,Pietro Schinocca,Alda Ragalmuto,Valeria Chiavetta,Salvatore Miccichè,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.2
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH)alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted allele. To date, no systematic search has been carried out for such exon deletions in Italian patients with phenylketonuria or mild hyperphenylalaninemia. We used multiplex ligation-dependent probe amplification (MLPA), comparative multiplex dosage analysis (CMDA), and real-time PCR to search for both large deletions and duplications of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemia patients. Four deletions removing different phenylalanine hydroxylase (PAH) gene exons were identified in 12 patients. Two of these deletions involving exons 4-5-6-7-8(systematic name c.353-?_912 + ?del) and exon 6(systematic name c.510-?_706 + ?del) have not been reported previously. In this study, we show that exon deletion of the PAH gene accounts for 1.7% of all mutant PAH alleles in Italian hyperphenylalaninemics.
Azeem, Eman,Gillani, Syed Wasif,Siddiqui, Ammar,HA, Al Shammary,Poh, Vinci,Sulaiman, Syed Azhar Syed,Baig, Mirza Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.13
Breast cancer is the most common cancer among women in Malaysia. Therefore, it is highly important for the public to be educated on breast cancer and to know the steps to detect it early on. Healthcare providers are in the prime position to provide such education to the public due to their high knowledge regarding health and their roles in healthcare. The present systematic review involved studies conducted in recent years to analyze the knowledge, attitudes and behavior of Malaysian healthcare providers regarding breast cancer, in attempts to obtain an overall picture of how well equipped our healthcare providers are to provide optimal breast cancer education, and to see their perceptions and actual involvement in said education. The systematic review was conducted via a primary search of various databases and journal websites, and a secondary search of references used by eligible studies. Criteria for eligibility included being published from the year 2008 till present, being conducted in Malaysia, and being written in the English language. A total of two studies were eligible for this review. Findings show that Malaysian future and current healthcare providers have moderate knowledge on breast cancer, have a positive towards involvement of breast cancer education, but have poor actual involvement.
Leonardo de Souza,Alex Carvalho Alavarse,Marco Aurélio da Vinci,Jean-Jacques Bonvent 한국섬유공학회 2021 Fibers and polymers Vol.22 No.4
Rotary jet spinning (RJS) method is showing a growing interest as one of the most efficient techniques for micro/nanofibers production. This paper reports the investigation on the influence of the pullulan/PVA blend solution composition,the solvent volatility and spinneret-collector distance on the fiber’s diameters produced by RJS technique. To optimize thenumber of required experiments for a complete evaluation, a central composite rotatable design (CCRD) and responsesurface methodology (RSM) were applied by means of Design Expert software. The fibrous mats morphology and thermalstability were analyzed as a function of the different parameters investigated. It was found a strong dependence of the fiberdiameter on the blend composition and DMSO content, which could be explained mainly by the rheological properties of thepolymer solution. The Response Surface Methodology analysis shows that the complex influence of the independentvariables on the fiber’s diameter could be fitted by an empirical model.
Diet and Colorectal Cancer Risk in Asia - a Systematic Review
Azeem, Salman,Gillani, Syed Wasif,Siddiqui, Ammar,Jandrajupalli, Suresh Babu,Poh, Vinci,Sulaiman, Syed Azhar Syed Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.13
Diet is one of the major factors that can exert a majorly influence on colorectal cancer risk. This systematic review aimed to find correlations between various diet types, food or nutrients and colorectal cancer risk among Asian populations. Search limitations include dAsian populations residing in Asia, being published from the year 2008 till present, and written in the English language. A total of 16 articles were included in this systematic review. We found that red meats, processed meats, preserved foods, saturated/animal fats, cholesterol, high sugar foods, spicy foods, tubers or refined carbohydrates have been found by most studies to have a positive association with colorectal cancer risk. Inversely, calcium/dairy foods, vitamin D, general vegetable/fruit/fiber consumption, cruciferous vegetables, soy bean/soy products, selenium, vitamins C,E and B12, lycophene, alpha-carotene, beta-carotene, folic acid and many other vitamins and minerals play a protective role against colorectal cancer risk. Associations of fish and seafood consumption with colorectal cancer risk are still inconclusive due to many varying findings, and require further more detailed studies to pinpoint the actual correlation. There is either a positive or no association for total meat consumption or white meats, however their influence is not as strong as with red and processed meats.
Francesco Calì,Alda Ragalmuto,Valeria Chiavetta,Giuseppe Calabrese,Marco Fichera,Mirella Vinci,Giuseppa Ruggeri,Pietro Schinocca,Maurizio Sturnio,Salvatore Romano,IRCCS Oasi Maria SS,Valentino Romano 생화학분자생물학회 2010 Experimental and molecular medicine Vol.42 No.12
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However,some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.
Cali, Francesco,Ragalmuto, Alda,Chiavetta, Valeria,Calabrese, Giuseppe,Fichera, Marco,Vinci, Mirella,Ruggeri, Giuseppa,Schinocca, Pietro,Sturnio, Maurizio,Romano, Salvatore,Romano, Valentino,Elia, Mau Korean Society for Biochemistry and Molecular Bion 2010 Experimental and molecular medicine Vol.42 No.12
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutations of the E3 ubiquitin protein ligase (UBE3A) gene. However, some of suspected cases of AS are still scored negative to all the latter mutations. Recently, it has been shown that a proportion of negative cases bear large deletions overlapping one or more exons of the UBE3A gene. These deletions are difficult to detect by conventional gene-scanning methods due to the masking effect by the non-deleted allele. In this study, we have used for the first time multiplex ligation-dependent probe amplification (MLPA) and comparative multiplex dosage analysis (CMDA) to search for large deletions affecting the UBE3A gene. Using this approach, we identified a novel causative deletion involving exon 8 in an affected sibling. Based on our results, we propose the use of MLPA as a fast, accurate and inexpensive test to detect large deletions in the UBE3A gene in a small but significant percentage of AS patients.