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Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

Introduction Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. Genomic rearrangements in this region are caused by a non allelic homologous recombination between specific low-copy repeats spanning the region. The 22q11.2 deletion is common and manifests as DiGeorge/velocardiofacial syndrome (DG/VCFS), whereas duplication in the same region is rarely reported. The 22q11.2 microduplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart

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MOLECULAR CYTOGENETIC CHARACTERIZATION OF AN inv(Y)(p11.2q11.221~q11.222) IN A SYRIAN FAMILY

. Arch Androl. 2000; 45(3): 181-185. 10. Causio F, Canale D, Schonauer LM, Fischetto R, Leonetti T, Archidiacono N. Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report. J Reprod Med. 2000; 45(7): 591-594. 11. Shaffer L, Slovak M, Cambell L, Eds. ISCN (2009): An International System for Human Cytogenetic Nomenclature. Basel: S. Karger, 2009. 12. Al-Achkar W, Wafa A, Liehr T, Klein E, Moassass F. Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype. Mol Med Report. 2012; 6(2): 293

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Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)

chromosomal imbalances during meiosis, leading to the birth of affected offspring or recurrent miscarriages. Balanced non-ROB involving acrocentric chromosomes is a rare event. We document the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic finding 46,XY,t(15.22)(p11). To the best of our knowledge, t(15;22) is the first documented anomaly with this uncommon breakpoint. With the aim to determine the chromosomal starting place of the 46,XY,t(15;22) (p11.2; q11.2) translocation, array comparative genomic hybridization (CGH) was

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Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population

Association Study of Genetic Variants in the 14q11 - 14q13 Proteasomal Genes Cluster with Juvenile Idiopathic Arthritis (JIA) in Latvian Population

The possible role of proteasomes in the development of autoimmune diseases was hypothesised after discovery of the involvement of proteasomal LMP2 and LMP7 subunits in antigene processing. The objective of this study was to determine the association between allelic variants of the genes encoding proteasomal proteins PSME1, PSME2 and PSMA6 and juvenile idiopathic arthritis (JIA) in the Latvian population. One Indel G-4543 CA-4544 →GA and four SNPs related to the PSMA6 gene (A-2486 →G and C-1910 →T, upstream promoter, C-110 →A of promoter, and C-8 →G of 5'UTR), of two cSNP in PSME1 (G1457 →A:Val104, exon 6 and C2536 →A: Lys244 →Thr, exon 11) and in PSME2 (C1153 →G:Arg61 →Gly, exon 4 and A1440 →C:His89 →Pro, exon 6) were geno-typed by means of primer-specific PCR, CAPS assay and/or sequencing in case/control study composed from the 156 JIA patients and 214 healthy individuals. Allele frequency and genotype distribution was similar in cases and controls for Indel, and SNPs A-2486 →G, C-1910 →T and C-8 →G of PSMA6, as well as for all studied cSNPs in PSME1 and PSME2 genes. Differences in A-110 allele and CG genotype frequencies were close to the statistically significant P level in JIA patients and healthy individuals, however, when an additive model was applied, the difference in the C-110 →A locus turned out to be statistically significant. The results support the hypothesis of the possible association of PSMA6 gene allelic variants with JIA in the Latvian population.

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Changes in Agricultural Markets in Poland following its Accession to the European Union

Summary

This article attempts to determine the most significant tendencies and changes observed in Poland’s core markets of agricultural products, which occurred during the period preceding Poland’s accession to the European Union (1994-2003) and after the accession (2004-2013). The key markets of agricultural products include markets with the largest value of commodity production during the analysed period, such as cereals, potatoes, sugar beet, rapeseed, fruit, vegetables, pork, beef and poultry, cows’ milks and eggs. The development of domestic production, consumption and real purchasing prices were observed and compared in order to achieve the main objective. The research was preceded by the characterisation of macroeconomic and resource conditionalities of agricultural production as well as the trade balance of the Polish agri-food sector. On the basis of the conducted studies, there were singled out three groups of markets in which the situation during the period following Poland’s accession to the EU developed in a similar way.

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Reversible Supply Chain in function of competitiveness

Abstract

Supply Chain makes the flow of goods, services and information from suppliers, through transport, producers, distributors, retailers to end customers. Big producers opt for a strategy of outsourcing logistic services, especially storage, delivery, and distribution services to end-customers. Commitment to the strategy of outsourcing, at the same time, is the strategy of focus on the core business. Small producers, especially manufacturers of agricultural food products, have recently opted to avoid intermediaries in the transport and distribution of the product to the end customer. All in order to increase the quality of their own products and increase the competitiveness by eliminating the costs of intermediaries in transport and distribution. This is achieved by merging and shortening the supply chain. The EU has established an institutional framework regulating the operations of producers through a short supply chain. The market situation requires further optimization by producers due to lack of labour and the need to increase competitiveness and leads to the emergence of a reversible supply chain phenomenon. In the paper, the author, by applying general and special scientific methods of cognition, explores the advantages and shortcomings of the short and reversible supply chain, derived from the traditional and modern supply chain model.

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Transforming the Nigerian Agricultural Sector into an Agribusiness Model – the Role of Government, Business, and Society

Abstract

This paper proposes that the transformation of the agric sector into an agribusiness model will contribute to repositioning Nigerian economy from its backwater position in the world’s economy. This proposition was investigated with the help of a review of literature and analysis of secondary time series data from the period of 2005–2014, which represented the contributions of the agricultural, manufacturing, oil and gas, and service sectors in Nigeria. One hypothesis was formulated and investigated with the t-test, correlation, and regression tests. The test results were positive and statistically significant at.05 alpha level, and they showed that agriculture has the potential to consistently have a significant effect in contributing to the growth of the Nigerian GDP both in the short and long run. These results justify the clarion call within the government and business sectors to diversify the economy and return to agriculture as the country’s bedrock for economic stability, especially as global economy becomes more volatile, uncertain, turbulent, and ambiguous. To this end, six strategies and twelve policy recommendations are suggested towards the implementation of a Structural Adjustment for Agribusiness Promotion (SAFAP) in Nigeria, and this is to be implemented as an action plan for pursuing a nationwide agricultural revolution. The paper concludes that, in view of its Vision 20:2020 to be among the top twenty economies in the world, Nigeria can become positioned to be a major player in global economy by diversifying from an oil-dependent economy into agribusiness and agric trade.

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A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

Introduction Emanuel syndrome (ES) is an unbalanced translocation syndrome, usually arising through a 3:1 meiosis I malsegregation during gametogenesis in a phenotypically balanced translocation normal carrier. While the true mortality rate in Emanuel syndrome is unknown, long-term survival is possible [ 1 ]. Emanuel syndrome is also referred to as derivative 22 syndrome, derivative 11;22 syndrome, partial trisomy 11;22, or supernumerary der(22)t(11;22) syndrome [ 2 ]. In this partial duplication, 11(q23-qter) and 22(pter-q11) complex, congenital

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Emanuel Syndrome (Es): New Case-Report and Review of the Literature/ Емануел Синдром (Es): Презентација На Нов Случај И Преглед На Литературата

(1): 46-51. 3. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res. 2004; 107: 55-67. 4. Fraccaro M, Lindsten J, Ford C. E, Iselius L. The 11q;22q translocation: a European collaborative analysis of 43 cases. Human Genetics.1980; 56(1): 21-51. 5. Zackai E. H, Emanuel B. S. Site-specific reciprocal translocation, t(11;22)(q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet. 1980; 7: 507-21. 6. Medne L, Zackai E. H

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in PRILOZI
A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

-sorted chromosomes. Am J Med Genet. 2001;102(2):173-182. 4. Torgyekes E, Shanske AL, Anyane-Yeboa K, et al. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature. Am J Med Genet A. 2011;155A(8):1884-1896. DOI: 10.1002/ajmg.a.34090 5. Zahir F, Firth HV, Baross A, et al. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet. 2007;44(9):556-561. DOI: 10

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