scholarly journals Hlaallele Detection Using Molecular Techniques

1993 ◽  
Vol 11 (4) ◽  
pp. 145-160 ◽  
Author(s):  
Philip A. Dyer ◽  
Damini Jawaheeri ◽  
Bill Allier ◽  
Kay Poulton ◽  
Paul Sinnott ◽  
...  

There are now many molecular biological techniques available to define HLA class I and class II alleles. Some of these are also applicable to other human polymorphic genes, in particular to those non-HLA genes encoded within the Mhc. The range of techniques available allows laboratories to choose those most suited to their purpose. The routine laboratory supporting solid organ transplants will need to type large numbers of potential recipients over a period of time, probably using PCR-SSOP while donors will be typed singly and rapidly using PCR-SSP with HLA allele compatibility determined by heteroduplex analysis. Laboratories supporting bone marrow transplantation, where time is less pressing, can choose from the whole range of techniques to determine accurately donor recipient Mhc compatibility. For disease studies, techniques defining precise HLA allele sequence polymorphisms are needed and high sample numbers have to be accommodated. When an association is established allele sequencing has to be used. In the near future, the precise role of HLA alleles in transplantation and disease susceptibility is likely to be established unambiguously.

Author(s):  
Thomas T.F. Huang ◽  
Patricia G. Calarco

The stage specific appearance of a retravirus, termed the Intracisternal A particle (IAP) is a normal feature of early preimplantation development. To date, all feral and laboratory strains of Mus musculus and even Asian species such as Mus cervicolor and Mus pahari express the particles during the 2-8 cell stages. IAP form by budding into the endoplasmic reticulum and appear singly or as groups of donut-shaped particles within the cisternae (fig. 1). IAP are also produced in large numbers in several neoplastic cells such as certain plasmacytomas and rhabdomyosarcomas. The role of IAP, either in normal development or in neoplastic behavior, is unknown.


2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.


2015 ◽  
Vol 12 (3) ◽  
pp. 181-192 ◽  
Author(s):  
Pinar Yazgan ◽  
Deniz Eroglu Utku ◽  
Ibrahim Sirkeci

With the growing insurrections in Syria in 2011, an exodus in large numbers have emerged. The turmoil and violence have caused mass migration to destinations both within the region and beyond. The current "refugee crisis" has escalated sharply and its impact is widening from neighbouring countries toward Europe. Today, the Syrian crisis is the major cause for an increase in displacement and the resultant dire humanitarian situation in the region. Since the conflict shows no signs of abating in the near future, there is a constant increase in the number of Syrians fleeing their homes. However, questions on the future impact of the Syrian crisis on the scope and scale of this human mobility are still to be answered. As the impact of the Syrian crisis on host countries increases, so does the demand for the analyses of the needs for development and protection in these countries. In this special issue, we aim to bring together a number of studies examining and discussing human mobility in relation to the Syrian crisis.


2015 ◽  
Vol 24 (2) ◽  
pp. 203-213 ◽  
Author(s):  
Federica Furfaro ◽  
Cristina Bezzio ◽  
Sandro Ardizzone ◽  
Alessandro Massari ◽  
Roberto De Franchis ◽  
...  

The treatment of ulcerative colitis (UC) has changed over the last decade. It is extremely important to optimize the therapies which are available nowadays and commonly used in daily clinical practice, as well as to stimulate the search for more powerful drugs for the induction and maintenance of sustained and durable remission, thus preventing further complications. Therefore, it is mandatory to identify the patients' prognostic variables associated with an aggressive clinical course and to test the most potent therapies accordingly.To date, the conventional therapeutic approach based on corticosteroids, salicylates (sulfasalazine, 5-aminosalicylic acid) or immunosuppressive agents is commonly used as a first step to induce and to maintain remission. However, in recent years, knowledge of new pathogenetic mechanisms of ulcerative colitis have allowed us to find new therapeutic targets leading to the development of new treatments that directly target proinflammatory mediators, such as TNF-alpha, cytokines, membrane migration agents, cellular therapies.The aim of this review is to provide the most significant data regarding the therapeutic role of drugs in UC and to give an overview of biological and experimental drugs that will become available in the near future. In particular, we will analyse the role of these drugs in the treatment of acute flare and maintenance of UC, as well as its importance in mucosal healing and in treating patients at a high risk of relapse.


2011 ◽  
Vol 11 (1) ◽  
pp. 130-133
Author(s):  
Astra Zviedre ◽  
Arnis Engelis ◽  
Mohit Kakar ◽  
Aigars Pētersons

Potential Role of Cytokines in Children with Acute Appendicitis and Acute Mesenteric Lymphadenitis Although, AAP and AML have different etiological factors, clinical symptoms are very much similar but treatment tactics in both the disease differ a lot. In case of AML, treatment is more conservative and does not require hospitalization while in case of AAP immediate hospitalization and maybe further surgery can be mandatory. With the identification of group of cytokines serum inflammatory mediators IL-8, IL-10, IL-12[p70], IL-17, TNF-a and MCP-1, it is believed early and proper diagnosis of AAP in the near future. Research of cytokines-serum inflammatory mediators has opened new opportunities for an early detection and differentiation of these two diseases in children.


2020 ◽  
Vol 6 (3) ◽  
pp. 172-187 ◽  
Author(s):  
Nikita Saraswat ◽  
Neetu Sachan ◽  
Phool Chandra

Introduction and Ethnopharmacological relevance: In the Indian Vedic literature, Charakasamhita and Sushritasamhita, the Ajwain is known as Bhootika and in the charaksamhita commentaries, it is termed as Yavanika. The medicinal role of Ajwain fruit is claimed to be very important in the treatment of many ailments in humans. The plant Trachyspermum ammi Linn. is a grassy, aromatic annual plant, which falls in the family Umbelliferae. This plant is grown in India, Iran, Pakistan, Egypt, etc. for its medicinal benefits. Tribals of India use it for the treatment of diarrhea, arthritis, colic and gastrointestinal problems. In the traditional preparations, Indian Vaidya guru’s (Ayurveda Guru’s), the ajwain extract is used as “Admoda Arka”. The Ayurveda doctors, hakims and Vaidya gurus recommend ajwain for treating headaches, cold, flu and even during painful menstrual periods. Aim of the Study: The review paper has compiled the researches conducted on Trachyspermum ammi, which will help in presenting a collective data of the authentic researches conducted on the plant worldwide. It will also present information about the phytoconstituents which can be useful for building up new researches in near future. Materials and Methods: This paper has been prepared by collecting all the information available on the following platforms and the papers were searched from 1975 to 2019. The databases and electronic journals were well searched including Wiley, Springer link, Google Scholar, Science Direct, Pubmed. The key terms used for the search were Ajwain, C. copticum, Trachyspermum ammi and other synonyms of the plant. The search was also done by the names of chemical constituents present in the plant and the pharmacological effect of the plant. Results: The multiple uses of T. ammi are due to the active constituents present in it. As per the phytochemical studies on the fruits of T. ammi, the presence of various phytoconstituents has been found such as saponins, flavonoids, alkaloids, glycosides, fixed oils, thymenes, cumenes, tannins, amino acids, p-cymene, c-terpinene, steroids, etc. Conclusions: This paper is focused on presenting a detailed review on the literature, pharmacological properties, physicochemical studies and the newest researches on the plant. In this paper, we have also compiled the traditional uses of the herb used by Indian peopleon recommendations from their Hakims, Vaidya and use of the herbs by many tribes all across India and Pakistan.


Universe ◽  
2019 ◽  
Vol 5 (12) ◽  
pp. 226 ◽  
Author(s):  
Don Koks

I analyse the role of simultaneity in relativistic rotation by building incrementally on its role in simpler scenarios. Historically, rotation has been analysed in 1 + 1 dimensions; but my stance is that a 2 + 1 -dimensional treatment is necessary. This treatment requires a discussion of what constitutes a frame, how coordinate choices differ from frame choices, and how poor coordinates can be misleading. I determine how precisely we are able to define a meaningful time coordinate on a gravity-free rotating Earth, and discuss complications due to gravity on our real Earth. I end with a critique of several statements made in relativistic precision-timing literature, that I maintain contradict the tenets of relativity. Those statements tend to be made in the context of satellite-based navigation; but they are independent of that technology, and hence are not validated by its success. I suggest that if relativistic precision-timing adheres to such analyses, our civilian timing is likely to suffer in the near future as clocks become ever more precise.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Selene Rubiola ◽  
Tiziana Civera ◽  
Felice Panebianco ◽  
Davide Vercellino ◽  
Francesco Chiesa

Abstract Background Cattle are intermediate hosts of six Sarcocystis species, among which Sarcocystis hominis and Sarcocystis heydorni can infect humans through the consumption of raw or undercooked meat. In addition to the zoonotic potential, there is increasing interest in these protozoa because of the evidence supporting the role of Sarcocystis spp. in the occurrence of bovine eosinophilic myositis (BEM), a specific inflammatory myopathy which leads to carcass condemnation and considerable economic losses. Actually, all the prevalence studies carried out on cattle in Italy have been based on either morphological or 18S rDNA-based molecular techniques, most likely leading to misidentification of closely related species. Therefore, there is a strong need for new data on the prevalence of the different Sarcocystis spp. in cattle in Italy and their association with bovine eosinophilic myositis. Methods To reach our aim, individual striated muscle samples from BEM condemned carcasses (N = 54) and diaphragm muscle samples from randomly sampled carcasses (N = 59) were obtained from Northwest Italy slaughterhouses. Genomic DNA was extracted and analyzed by multiplex-PCR targeting 18S rDNA and cox1 genes. PCR products amplified using the genus-specific primer set in absence of the specific fragment for S. hirsuta, S. cruzi, S. hominis or S. bovifelis were sequenced to achieve species identification. Results Sarcocystis DNA was detected in 67.8% of the samples from slaughter cattle and in 90.7% of the samples from BEM condemned carcasses. S. cruzi was identified as the most prevalent species in slaughter cattle (61%), followed by S. bovifelis (10.2%), S. hominis (8.5%) and S. hirsuta (1.7%). Notably, among the different Sarcocystis spp. detected, the presence of S. bovifelis and S. hominis was significantly higher in samples isolated from BEM condemned carcasses (46.3% and 40.7% respectively), while there was no statistically significant difference between the presence of S. cruzi or S. hirsuta in BEM condemned carcasses (42.6% and 1.8%, respectively) and randomly sampled carcasses. Furthermore, DNA sequence analysis revealed the presence of a putative new species in two carcasses. Conclusions Our study contributes to updating the data on the prevalence of the different Sarcocystis spp. in cattle in Italy, highlighting the presence of three Sarcocystis spp., S. cruzi, S. hominis and S. bovifelis, in BEM lesions and allowing us to speculate on the possible role of S. hominis and S. bovifelis as the major sarcosporidian species involved in bovine eosinophilic myositis. Graphic Abstract


2021 ◽  
Vol 4 (2) ◽  
pp. e000196
Author(s):  
Yue Wu ◽  
Xiaosi Jin ◽  
Yuhao Zhang ◽  
Jing Zheng ◽  
Rulai Yang

Congenital heart disease (CHD) is the most common of congenital cardiovascular malformations associated with birth defects, and it results in significant morbidity and mortality worldwide. The classification of CHD is still elusive owing to the complex pathogenesis of CHD. Advances in molecular medicine have revealed the genetic basis of some heart anomalies. Genes associated with CHD might be modulated by various epigenetic factors. Thus, the genetic and epigenetic factors are gradually accepted as important triggers in the pathogenesis of CHD. However, few literatures have comprehensively elaborated the genetic and epigenetic mechanisms of CHD. This review focuses on the etiology of CHD from genetics and epigenetics to discuss the role of these factors in the development of CHD. The interactions between genetic and epigenetic in the pathogenesis of CHD are also elaborated. Chromosome abnormalities and gene mutations in genetics, and DNA methylations, histone modifications and on-coding RNAs in epigenetics are summarized in detail. We hope the summative knowledge of these etiologies may be useful for improved diagnosis and further elucidation of CHD so that morbidity and mortality of children with CHD can be reduced in the near future.


Molecules ◽  
2021 ◽  
Vol 26 (8) ◽  
pp. 2258
Author(s):  
Yu Wang ◽  
Bei Tan ◽  
Yi Wang ◽  
Zhong Chen

Epilepsy is a common brain disorder characterized by recurrent epileptic seizures with neuronal hyperexcitability. Apart from the classical imbalance between excitatory glutamatergic transmission and inhibitory γ-aminobutyric acidergic transmission, cumulative evidence suggest that cholinergic signaling is crucially involved in the modulation of neural excitability and epilepsy. In this review, we briefly describe the distribution of cholinergic neurons, muscarinic, and nicotinic receptors in the central nervous system and their relationship with neural excitability. Then, we summarize the findings from experimental and clinical research on the role of cholinergic signaling in epilepsy. Furthermore, we provide some perspectives on future investigation to reveal the precise role of the cholinergic system in epilepsy.


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