scholarly journals Non Random Distribution of Chromosome-21 in Syndromic Cases of Wilms’ Tumors

2020 ◽  
Vol 5 (3) ◽  
Keyword(s):  
Wilms Tumor ◽  
Chromosome Translocation ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Extra Copy ◽  
Karyotypic Analysis ◽  
Increase Risk ◽  
Break Points ◽  
The Common ◽  
First Time

Wilms’ tumors are the common embryonic childhood solid tumor of kindney and heterogeneous in nature. Karyotypic analysis of Wilms’ tumor has shown a variety of chromosomal aberrations with different (%) frequency of structural and numerical changes in somatic cell. Present study were carried out in eleven cases (n=11) of Wilms’ tumors with different age group (betwen 1.5 year to 10 year). Most striking feature is the involvement of high frequency (>60%) of Wilms’ tumor shows extra copy of chromosome-21 in the karyotypes after using high resolution of GTG banding and FISH analysis. Interestingly, 18% cases of Wilms’ tumor shows loss of Y-chromosome and appearance of (r)Y reporting first time in India. Beside this, short arm of chromosome - 6 and 16 shows two new break points i.e. 6q21.22 and 16q23 might have play an significant role in Wilms’ tumors progression. The other relevant findings were the association of either gain (trisomy) or loss (monosomy) of chromosome with chromatid break points, ring, dicentric or rearrangements of chromosome (translocation) with different frequency. However, this is a rare coincidence that environmental factor (s) might have increase risk of developing Down syndrome (47,XY+21) in Wilms’ tumors, due non - disjunction event and unequal crossing over in cell- division of the disease outcome.

Imbalances of Chromosome 21 in MDS/AML Include Cryptic Deletions but NOT RUNX1 Amplifications.

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 2561-2561
Author(s):  
Katya Gancheva ◽  
Diana Brazma ◽  
Nahid Zarein ◽  
Julie Howard-Reeves ◽  
Phaidra Partheniou ◽  
...  
Keyword(s):  
Down Syndrome ◽  
De Novo ◽  
Conflicts Of Interest ◽  
Lymphoblastic Leukemia ◽  
Extra Chromosome ◽  
Chromosome 21 ◽  
Oligonucleotide Array ◽  
Fish Analysis ◽  
Extra Copy ◽  
Commercial Fish

Abstract Abstract 2561 We present the results of a study demonstrating that the genome profile of RUNX1 in MDS/AML is characterised by hitherto unreported partial deletions and absence of amplifications. This is in stark contrast to reports of chromosome 21 amplifications in ALL. We speculate that the absence of RUNX1 deletions results from them being well below a size detectable by commercial FISH probes. Extra chromosome 21 is the second most common acquired trisomy after (+) 8 in adult myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). It is rarely observed as sole abnormality but seen as part of complex karyotype in some 3–7% of the AML (Atlas of Genetics and Cytogenetics in Oncology and Haematology, http://atlasgeneticsoncology.org). Although the gene(s) in trisomy 21 associated with leukemia are unknown, the 21q22 region appears to be critical since it houses the RUNX1 gene. Multiple amplified copies of the RUNX1 carried by marker chromosomes, such as iAML21, are described in both acute lymphoblastic leukemia (ALL) and AML. A common 5.1 Mb amplification containing the RUNX1, miR-802 and genes mapping to the Down syndrome critical region identified in 91 children with iAML21, was shown to be the likely initiating event in this rare form of childhood B-cell ALL (Rand et al., Blood, 2011). In contrast, recent studies of AML in a Down syndrome and a constitutionally normal individual showed lack of RUNX1, ETS2 and ERG involvement (Canzonetta et al., BJH, 2012). Here we present 16 MDS/AML cases with imbalances of chromosome 21 identified by genomic array screening from a cohort of 83 cases. Whole genome screening (aCGH) was performed on presentation samples of MDS /AML and de novo AML cases using an oligonucleotide array platform (Agilent) at 60K, 244K, 400K and 1M density. G banding and FISH analysis were also successfully performed. Gain of an extra copy (trisomy) of chromosome 21 (+21) was found in 9 patients, all but one with complex karyotypes. In 2 AMLs high level amplifications were detected at 21q22, which involved the ETS2 and ERG but not the RUNX1 sequences. While several commercially available RUNX1 FISH probes showed gene multiple signals, custom FISH probes covering the relevant regions confirmed that the amplifications excluded the RUNX1 but affected both EST2 and ERG thus rendering the commercial probes unfit to assess CNA in this genome area. In another two cases with trisomy 12, cryptic loss of 43Kb and 98Kb resp. within the RUNX1 sequences was detected and confirmed by FISH. Furthermore, similar deletions within the 21q22.12 were also found in another 7 cases all of which had diploid set of chromosome 21 but had multiple changes at G banding level and high TGA score. These RUNX1 deletions were variable in size, ranging from 98Kb to 2.7Mb. Although our observations excluded clinical correlations it is note worthy that most of the patients with RUNX1 loss have not achieved complete cytogenetic remission. These findings suggest role for the RUNX1 loss as indicator of progressive disease and provide a novel insight into pathogenesis of MDS/AML. Disclosures: No relevant conflicts of interest to declare.

Peculiarities of the juvenile period of the native Chechen genotypes of willow leaf pear (Pyrus salicifolia Pall.)

2020 ◽  
Vol 62 ◽  
pp. 32-38
Author(s):  
E. A. Dolmatov ◽  
R. B. Borzayev ◽  
A. N. Shaipov
Keyword(s):  
Chestnut Soil ◽  
Crop Breeding ◽  
Juvenile Period ◽  
Period 2 ◽  
Russian Research Institute ◽  
The Common ◽  
One Year ◽  
First Time ◽  
Selection Of ◽  
Creative Cooperation

The results of the study of the duration of the juvenile period of indigenous Chechen willow leaf pear genotypes (Pyrus salicifolia Pall.) are given in connection with the acceleration of the breeding process and the use of selected forms in pear breeding for high precocity. The studies were carried out in 2016-2019 at OOO “Orchards of Chechnya” in accordance with the Agreement on creative cooperation with the Russian Research Institute of Fruit Crop Breeding. The work was carried out in accordance with generally accepted programs and methods. The objects of the study were one-year and two-year-old pear seedlings obtained from sowing seeds of selected dwarf and low-growing local Chechen forms of willow pear (P. salicifolia Pall.), laying fruit buds on annual growths and seedlings of Caucasian pear (P. caucasica Fed.), 20 500 pcs. of each specie. The aim of the research was to study the potential of precocity of willow pear seedlings and to reveal of selected forms with the greatest degree of this trait. Stratified seeds were sown in the sowing department of the OOO “Orchards of Chechnya” production nursery in April, 2017. The seedlings were grown according to the common technology in dryland conditions on the plot with chestnut soil. The first fl owering of plants was noted in the spring, 2019. As a result of the research, for the first time on a large number of the experimental material it was found that in the off spring of the indigenous Chechen willow leaf pear genotypes, the selection of a little more than 2% of seedlings with a very short juvenile period (2 years) was possible. They are of great interest in accelerating the breeding process and in the selection of new pear varieties with high precocity. 20 willow leaf pear genotypes were selected for the further use in breeding for high precocity and as sources of the trait of short juvenile period.

Mapping the Heart

2010 ◽  
Vol 18 (4) ◽  
pp. 6-8
Author(s):  
Stephen W. Carmichael
Keyword(s):  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
G Protein Coupled Receptors ◽  
Receptor Subtypes ◽  
Cardiac Muscle Cells ◽  
Guanine Nucleotide Binding Protein ◽  
The Common ◽  
Guanine Nucleotide Binding ◽  
First Time ◽  
G Protein Coupled

Some of the receptors on the surface of cardiac muscle cells (cardiomyocytes) mediate the response of these cells to catecholamines by causing the production of the common second messenger cyclic adenosine monophosphate (cAMP). An example of such receptors are the β1- and β2-adrenergic receptors (βARs) that are heterotrimeric guanine nucleotide-binding protein (G protein)-coupled receptors. Selective stimulation of these two receptor subtypes leads to distinct physiological and pathophysiological responses, but their precise location on the surface of cardiomyocytes has not been correlated with these responses. In an ingenious combination of techniques, Viacheslav Nikolaev, Alexey Moshkov, Alexander Lyon, Michele Miragoli, Pavel Novak, Helen Paur, Martin Lohse, Yuri Korchev, Sian Harding, and Julia Gorelik have mapped the function of these receptors for the first time.

scholarly journals Śaivism after the Śaiva Age: Continuities in the Scriptural Corpus of the Vīramāheśvaras

Religions ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 222
Author(s):  
Elaine M. Fisher
Keyword(s):  
Thirteenth Century ◽  
Common Assumption ◽  
Academic Practice ◽  
The Common ◽  
Popular Work ◽  
First Time

This article makes the case that Vīraśaivism emerged in direct textual continuity with the tantric traditions of the Śaiva Age. In academic practice up through the present day, the study of Śaivism, through Sanskrit sources, and bhakti Hinduism, through the vernacular, are generally treated as distinct disciplines and objects of study. As a result, Vīraśaivism has yet to be systematically approached through a philological analysis of its precursors from earlier Śaiva traditions. With this aim in mind, I begin by documenting for the first time that a thirteenth-century Sanskrit work of what I have called the Vīramāheśvara textual corpus, the Somanāthabhāṣya or Vīramāheśvarācārasāroddhārabhāṣya, was most likely authored by Pālkurikĕ Somanātha, best known for his vernacular Telugu Vīraśaiva literature. Second, I outline the indebtedness of the early Sanskrit and Telugu Vīramāheśvara corpus to a popular work of early lay Śaivism, the Śivadharmaśāstra, with particular attention to the concepts of the jaṅgama and the iṣṭaliṅga. That the Vīramāheśvaras borrowed many of their formative concepts and practices directly from the Śivadharmaśāstra and other works of the Śaiva Age, I argue, belies the common assumption that Vīraśaivism originated as a social and religious revolution.

scholarly journals Genetic characterization at the species and symbiovar level of indigenous rhizobial isolates nodulating Phaseolus vulgaris in Greece

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Evdoxia Efstathiadou ◽  
Georgia Ntatsi ◽  
Dimitrios Savvas ◽  
Anastasia P. Tampakaki
Keyword(s):  
Phaseolus Vulgaris ◽  
Common Bean ◽  
Phylogenetic Affiliation ◽  
Rhizobial Inoculation ◽  
Rhizobial Species ◽  
The Common ◽  
First Time ◽  
Of Greece ◽  
Rhizobial Isolates

AbstractPhaseolus vulgaris (L.), commonly known as bean or common bean, is considered a promiscuous legume host since it forms nodules with diverse rhizobial species and symbiovars. Most of the common bean nodulating rhizobia are mainly affiliated to the genus Rhizobium, though strains belonging to Ensifer, Pararhizobium, Mesorhizobium, Bradyrhizobium, and Burkholderia have also been reported. This is the first report on the characterization of bean-nodulating rhizobia at the species and symbiovar level in Greece. The goals of this research were to isolate and characterize rhizobia nodulating local common bean genotypes grown in five different edaphoclimatic regions of Greece with no rhizobial inoculation history. The genetic diversity of the rhizobial isolates was assessed by BOX-PCR and the phylogenetic affiliation was assessed by multilocus sequence analysis (MLSA) of housekeeping and symbiosis-related genes. A total of fifty fast-growing rhizobial strains were isolated and representative isolates with distinct BOX-PCR fingerpriniting patterns were subjected to phylogenetic analysis. The strains were closely related to R. anhuiense, R. azibense, R. hidalgonense, R. sophoriradicis, and to a putative new genospecies which is provisionally named as Rhizobium sp. I. Most strains belonged to symbiovar phaseoli carrying the α-, γ-a and γ-b alleles of nodC gene, while some of them belonged to symbiovar gallicum. To the best of our knowledge, it is the first time that strains assigned to R. sophoriradicis and harbored the γ-b allele were found in European soils. All strains were able to re-nodulate their original host, indicating that they are true microsymbionts of common bean.

Healthcare and Terrorism: The Lebanese Experience

2021 ◽  
pp. 1-4
Author(s):  
Nooreddine Iskandar ◽  
Tatiana Rahbany ◽  
Ali Shokor
Keyword(s):  
Public Health ◽  
Qualitative Study ◽  
Thematic Analysis ◽  
Terrorist Attacks ◽  
Analysis Method ◽  
Structured Interviews ◽  
Security Issues ◽  
The Face ◽  
The Common ◽  
First Time

Abstract Background: Due to the common instability caused by political and security issues, Lebanese hospitals have experienced acts of terrorism multiple times. The most recent Beirut Explosion even forced several hospitals to cease operations for the first time in decades—but studies show the preparedness levels for such attacks in similar countries are low. Objective: The aim of this study is to explore the experience of Lebanese hospitals with terrorist attacks. Methods: This qualitative study used semi-structured interviews with various stakeholders to assess their experience with terrorist bombings. Data was analyzed using the thematic analysis method. Results: The researchers found that Lebanese hospitals vary greatly in their structures and procedures. Those differences are a function of 3 contextual factors: location, culture, and accreditation status. Hospitals found near ‘dangerous zones’ were more likely to be aware and to have better response to such events. A severe lack of communication, unity of command, and collaboration between stakeholders has made the process fragmented. Conclusion: The researchers recommend a larger role for the Ministry of Public Health (MOPH) in this process, and the creation of a platform where Lebanese organizations can share their experiences to improve preparedness and resilience of the Lebanese healthcare system in the face of terrorism.

Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome

2007 ◽  
Vol 7 (3) ◽  
pp. 215-218 ◽  
Author(s):  
Frenny J Sheth ◽  
Uppala Radhakrishna ◽  
Michael A Morris ◽  
Jean-Louis Blouin ◽  
Jayesh J Sheth ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Affected Patient ◽  
Isodicentric Chromosome

scholarly journals Two new reports of thrips (Thysanoptera: Thripidae) from India

2018 ◽  
Vol 10 (2) ◽  
pp. 11312
Author(s):  
R. R. Rachana ◽  
R. Varatharajan
Keyword(s):  
Frankliniella Occidentalis ◽  
Western Flower Thrips ◽  
Climatic Conditions ◽  
Southern India ◽  
Flower Thrips ◽  
The Common ◽  
Planting Materials ◽  
The Nilgiris ◽  
First Time ◽  
The Western Ghats

Caliothrips punctipennis (Hood) and the male of Western Flower Thrips Frankliniella occidentalis (Pergande) have been recorded for the first time from India.  F. occidentalis was collected on the leaves of Erythrina indica from Ooty in the Nilgiris, the Western Ghats, southern India, whereas C. punctipennis was collected from yellow pan traps laid at Great Nicobar, India.  Considering the quarantine importance of the pest F. occidentalis, the report of the male for the first time in India needs attention and concern.  Males are also known to be more effective vectors of tospoviruses than females.  Xerochrysum bracteatum, the Common Golden Everlasting Daisy, is often taken out of Ooty by tourists to other parts of the country.  This along with other planting materials carried by tourists and farmers could aid in the dispersal of F. occidentalis to the temperate regions of northern and southern India, where it is likely to thrive in the congenial climatic conditions prevalent there.  Under these circumstances, it is imperative that quarantine mechanisms within the country are activated and strengthened, to prevent the spread of this notorious pest to the rest of India from the pockets of its occurrence in southern India - particularly the Nilgiris.  The diagnostic characters of both species are discussed. 

scholarly journals Mapping of the autophagosomal degradome identifies IL-7Rα as key cargo in proliferating CD4+ T-cells

2021 ◽  
Author(s):  
Dingxi Zhou ◽  
Mariana Borsa ◽  
Daniel J. Puleston ◽  
Susanne Zellner ◽  
Jesusa Capera ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
T Cells ◽  
T Cell ◽  
Cd4 T Cells ◽  
Surface Expression ◽  
T Cell Proliferation ◽  
Gamma Chain ◽  
Direct Identification ◽  
The Common ◽  
First Time

CD4+ T cells orchestrate both humoral and cytotoxic immune responses. While it is known that CD4+ T cell proliferation relies on autophagy, direct identification of the autophagosomal cargo involved is still missing. Here, we created a transgenic mouse model, which, for the first time, enables us to directly map the proteinaceous content of autophagosomes in any primary cell by LC3 proximity labelling. IL-7Rα, a cytokine receptor mostly found in naive and memory T cells, was reproducibly detected in autophagosomes of activated CD4+ T cells. Consistently, CD4+ T cells lacking autophagy showed increased IL-7Rα surface expression, while no defect in internalisation was observed. Mechanistically, excessive surface IL-7Rα sequestrates the common gamma chain, impairing the IL-2R assembly and downstream signalling crucial for T cell proliferation. This study provides proof-of-principle that key autophagy substrates can be reliably identified with this model to help mechanistically unravel autophagy's contribution to healthy physiology and disease.

scholarly journals Ten Reasons Why People With Down Syndrome are Protected From the Development of Most Solid Tumors -A Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Marta Pilar Osuna-Marco ◽  
Mónica López-Barahona ◽  
Blanca López-Ibor ◽  
Águeda Mercedes Tejera
Keyword(s):  
Down Syndrome ◽  
Solid Tumors ◽  
Tumor Suppressor Genes ◽  
Wilms Tumor ◽  
Extra Chromosome ◽  
Germ Cell Tumors ◽  
Chromosome 21 ◽  
Testicular Tumors ◽  
Unique Pattern ◽  
Increased Risk

People with Down syndrome have unique characteristics as a result of the presence of an extra chromosome 21. Regarding cancer, they present a unique pattern of tumors, which has not been fully explained to date. Globally, people with Down syndrome have a similar lifetime risk of developing cancer compared to the general population. However, they have a very increased risk of developing certain tumors (e.g., acute leukemia, germ cell tumors, testicular tumors and retinoblastoma) and, on the contrary, there are some other tumors which appear only exceptionally in this syndrome (e.g., breast cancer, prostate cancer, medulloblastoma, neuroblastoma and Wilms tumor). Various hypotheses have been developed to explain this situation. The genetic imbalance secondary to the presence of an extra chromosome 21 has molecular consequences at several levels, not only in chromosome 21 but also throughout the genome. In this review, we discuss the different proposed mechanisms that protect individuals with trisomy 21 from developing solid tumors: genetic dosage effect, tumor suppressor genes overexpression, disturbed metabolism, impaired neurogenesis and angiogenesis, increased apoptosis, immune system dysregulation, epigenetic aberrations and the effect of different microRNAs, among others. More research into the molecular pathways involved in this unique pattern of malignancies is still needed.

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