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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,Sara Chinetti,Adelheid H?ller,Beatrice Grimi,Gertrud Fichtel,Monica Braghetto,Cristina Agrati,Eleonora Bonaparte,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati
Case Reports in Genetics , 2013, DOI: 10.1155/2013/306098
Abstract: Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. 1. Introduction Wolf-Hirschhorn Syndrome (WHS) results from partial deletion of the distal short arm of chromosome 4 (4p16.3). The clinical features are variable, with increasing severity depending on the extent of the deletion, although the minimal diagnostic criteria should include the association of typical facial appearance, growth delay, mental retardation, and seizures [1]. Considering that small and large 4p16.3 deletions are associated with mild and severe WHS phenotype, respectively, Zollino et al. [1] have suggested a WHS classification in three categories based on the clinical presentation, all sharing the minimal diagnostic criteria: “mild” form (deletions < 3.5?Mb) refers to patients with a mild mental retardation (MR), possible fluent language, and usually independent walking by the age of 2-3 years; “classical” form (deletions 5–18?Mb) is characterized by major malformations, severe psychomotor delay (PMD), delay or absence of speech, and late walking; “severe” one (deletions > 22–25?Mb) has severe PMD and MR, facial anomalies, severe scoliosis, and psychotic behaviour. At a molecular level, two WHS critical regions (WHSCRs) have been identified: the WHSCR region, which is 165?Kb in size and it is located at about 2?Mb from the telomere between the markers D4S166 and D4S3327 [2], and the WHSCR-2 region which embraces a 300–600?Kb interval between the loci D4S3327 and D4S168 and it is mapped distal to WHSCR at about 1,9?Mb from the telomere [1]. Most of the 4p16 deletions involved in WHS occur de novo, but in 10%–15% of cases the derivative chromosome 4 originate from chromosomal rearrangements in one of the parents. Four different rearrangements are reported [1]: (1) isolated 4p deletion (70% of patients); (2) unbalanced translocation (22%); (3) inverted duplication associated with terminal 4p deletion (6%); (4) recombinant chromosome 4, rec(4), consisting of unbalanced pericentric inversion with a large 4q segment duplicated on the deleted 4p (2%). Herein we describe a
Impact of Psychosocial Factors on the Adolescents’ Behaviour  [PDF]
Beatrice Olawumi Ajidahun
Creative Education (CE) , 2011, DOI: 10.4236/ce.2011.24057
Abstract: The study examined poverty, divorce and peer-pressure as correlates of behavioural problems among adolescents in Adekunle Ajasin University. A total number of 100 students were randomly selected from various Departments in the Faculty of Education. The research instrument titled: Adolescent Psychological Questionnaire (APQ) consisting of 18 items was administered to the adolescents in the Faculty. Four research hypotheses were formulated. The data were analysed using frequency count and Chi-Square statistics. Results showed that all the hypotheses tested were significant. This implies that poverty, divorce and peer-pressure were correlates of behavioural problems among adolescents in the Faculty of Education, Adekunle Ajasin University, Akungba- Akoko, Nigeria.
Effect of Maternal Employment on Infant Feeding Practices in Southwestern Nigeria  [PDF]
Beatrice Olubukola Ogunba
Food and Nutrition Sciences (FNS) , 2015, DOI: 10.4236/fns.2015.67063
Abstract: The study investigated the effect of maternal employment on breastfeeding and child care practices of mothers in Southwestern Nigeria. Information was collected on maternal socio economic characteristics, care and feeding practices of 450 mothers selected by multi stage random sampling procedure from both urban and rural communities. Results revealed that 46.9% mothers spent more than 8 hours at work, 62.7% worked outside their homes and 73.1% spent about 17 - 24 hours with their children per day. Children received prelacteal feeds such as water (61.1%), concoction (34%), glucose (32%) and infant formula (54.7%). Mean number of breastfeeding per day was 9.7 ± 3.9; only 24% were exclusively breastfed, 37.3% introduced complementary foods at 6 months and 68.6% terminated breastfeeding between 13 - 18 months. Mothers that were engaged in work outside their home in offices and factories practiced exclusive breastfeeding. Mothers below 30 years of age used prelacteal feeds, did not practice exclusive breastfeeding (58.3%), terminated breastfeeding earlier and combined the use of feeding bottles, plates and cups for feeding (50.3%) when compared with mothers between 40 - 50 years. Mothers in the rural areas used water as prelacteal feeds (85.3%) mothers in urban communities used infant formula (65.4%). A significant association was found between maternal places of employment. It is strongly associated with the timing of introduction of complementary foods (p < 0.02) and the number of snack consumed/day (p < 0.03). Conclusively, maternal place of work positively influences the adoption of appropriate infant feeding practice. Working mothers should receive more support in the work place for them to practice appropriate feeding practices.
Demographic Characteristics as Determinants of the Use of Health Care Services: A Case of Nsukka, Southeast Nigeria  [PDF]
Beatrice D. Adeoye
Open Journal of Social Sciences (JSS) , 2015, DOI: 10.4236/jss.2015.312003
Abstract: Studies have associated demographic characteristics as strong determinants of utilization of health care services; however, not much has been done to explore the dynamics of these variables in Nigeria. This empirical study explores the link between demographic factors and the use of health care services. 543 respondents were selected using multi-stage sampling technique. The findings showed that a majority (56.9%) of the respondents were female while (50.3%) were married. Testing the demographic characteristics regarding where people will prefer to go for treatment with multiple regression, it is only sex as a demographic variable that indicates positive association, with 0.08 level of significance. Variables such as age and education did not indicate any strong correlation with health care services utilization in the study area. This result corroborates the reality in many parts of African society where it is the father that dictates the cause of action. That means gender plays an important role in the utilization of health care delivery.
Valorization of Moroccan olive stones by using it in particleboard panels
M Elbir,A Moubarik,E.M Rakib,N Grimi
MADERAS : Ciencia y Tecnología , 2012,
Abstract: The main objective of this work was to find new applications to valorize olive stones (endocarp and seed). In order to improve knowledge on olive stones, the phenolic compounds concentration of three varieties of Moroccan olive trees: Moroccan Picholine, Menara and Haouzian were studied. Olive stones of three varieties were characterized by Fourier Transform Mid Infrared Spectroscopy (FT-MIR). Total phenolic compounds are quantified after solid-liquid extraction by an assay of Folin-Ciocalteu. Moroccan Picholine stones (11.32 mg GAE/g DM) have a higher content of total phenolic compounds than Haouzia stones (4.55 mg GAE/g DM) and Menara stones (3.56 mg GAE/g DM). Thermogravimetric analysis indicates that up to 195°C; there is no degradation of the stones. The biocide performance on agar-agar was tested with decay fungi. Biodegradation studies show that the most interesting results are obtained with Moroccan Picholine stones. The presence of Moroccan Picholine in a particleboard panels improves the total resistance of the particleboard panels against both Coriolus versicolor and Coniophora puteana rot fungi.
Comparative analysis and relationships of six important crop species chloroplast genomes using whole genome web-based informatics tools
Beatrice Kilel
African Journal of Biotechnology , 2004,
Abstract: Using informatics tools to compare important species is now feasible as structural genomics continue in importance and establishment of structure-function relationships become a common way of comparative analysis. Currently, many of the technical issues involved in sequencing complete genomes have been solved. The smallness in size of chloroplast genomes facilitates being used for the discovery of disease resistance genes, introgression of important traits in transgenic plants, quantitative trait analysis and phylogenetic studies. Knowledge from this can be extrapolated to important crops like sorghum, millet, taro, and cassava that have not been fully sequenced. This study compared six important crop species using GeneOrder3.0 and CoreGenes2.0 web-based informatics tools using complete chloroplast genomes. Results obtained depict cases of major genome rearrangements, translocation, duplication, inversion and deletion of genes. Members of the poaceae family indicate a close relationship in the nature of conserved sequences while Oryza sativa and Chlorella vulgaris, which are not members of poaceae indicate no synteny. Gene content indicates that there are common sets of putative orthologs across the different species. Zea mays, O. sativa, Nicotiana tabacum, Spinacea oleracea, Triticum aestivum had 71 rows of putative orthologs (355 total) with one hypothetical protein (GI:11465969) in N. tabacum, which is homologous to cemA and ORF230 protein in O. sativa and Z. mays, respectively. There was a clear indication from these sets of putative orthologs that maturase-encoding genes were found only in the terrestrial plants and not in the unicellular organisms. Key Words: Chloroplast genomes; comparative analysis; informatics tools; whole genome; synteny. African Journal of Biotechnology Vol. 3 (4), 2004: 210-214
红外 , 2001,
Abstract: 按照欧洲空间局的合同为ENVISAT 1极轨地球飞行任务研制的中分辨率成像光谱仪(MERIS),属于新一代海洋水色敏感仪.它可以用来提高人们对我们行星上的一些重要过程的认识.目前由AEROSPATIALE领导的一个国际工作队正在开展该仪器的研制工作.MERIS是一台推帚式仪器,它是利用位于390 nm和1040 nm之间的15个可编程波段以1150 km的刈幅测量地球辐射的.其如此宽的空间范围是由5台成扇形展开的视场均为14°的摄像机达到的.本文介绍了MERIS FM仪器的性能验证计划、所涉及到的一些测试设备以及实际测得的性能.
When Death Became a Creature: Saint Francis & Sister Death
Beatrice Marovich
Glossator : Practice and Theory of the Commentary , 2013,
Mario Domenichelli, Lo scriba e l’oblio. Letteratura e storia: teoria e critica delle rappresentazioni nell’epoca borghese
Beatrice Seligardi
Between , 2011,
Abstract: Per comprendere l’intento argomentativo del nuovo saggio di Domenichelli, può essere utile partire dalle sue Conclusioni (che a ben vedere, avrebbero potuto occuparne anche la posizione incipitaria e introduttiva). All’interno di esse, infatti, non si svolge semplicemente una riepilogazione dei capitoli precedenti, piuttosto si tessono i fili della complessa trama reticolare nella quale i leitmotiven teorici, via via disseminati, si ritrovano finalmente congiunti nei loro rapporti di interdipendenza reciproca. Fra queste key words spiccano memoria, oblio, testo, immaginario, rappresentazione, scriba. E da questi indizi si desume infatti lo scopo dell’intera architettura dell’opera, che si configura come una ricognizione teorica sul rapporto etico fra memoria e letteratura, o meglio, fra memoria e critica letteraria e sulla funzione che l’intellettuale può ancora svolgere in un contesto sociale come quello italiano che pare, ma solo pare, poter sopravvivere facendo a meno della sua figura. Perché la domanda fondamentale cui l’intero saggio risponde potrebbe così sintetizzarsi: che senso ha la critica letteraria all’interno dell’epoca tardo-capitalistica? Può avere ancora un ruolo lo scriba, l’esegeta, l’uomo o donna di lettere?
Per un'analisi della transmedialità intra- ed extra-letteraria: Swann di Carol Shields A case of internal and external transmediality: Swann by Carol Shields
Beatrice Seligardi
Between , 2012,
Abstract: Il presente articolo mira a indagare il problema dell’adattamento partendo da un case study, il romanzo Swann della scrittrice canadese di lingua inglese Carol Shields, pubblicato nel 1987. Sono due gli aspetti di transmedialità che intersecano il romanzo in maniera differente. Da un lato, si cercherà di definire la presenza di una mise en abyme transmediale nell’ultimo capitolo del romanzo; dall’altro ci si soffermerà su un raffronto comparativo fra l’intero romanzo e la sua trasposizione cinematografica, Swann, per la regia di Anna Benson Gyles, uscito nel 1996. The purpose of this article is to explore the mechanisms of adaptation through the analysis of a specific case offered by Swann (1987), a novel written by the Canadian writer Carol Shields. An internal and external transmediality will be investigated by focusing on two aspects: on the one hand, it will be shown the presence, in the last chapter of the novel, of a transmedial mise en abyme; on the other hand, a comparison will be given between the novel and the film adaptation, Swann (1996), directed by Anna Benson Gyles.
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