IMMUNOLOGICAL MECHANISMS –AS DIAGNOSTIC CRITERIA FOR TREATMENT OF NEUROPATHY IN CHILDREN

2020 ◽  
Vol 2 (1) ◽  
pp. 11-13
Author(s):  
Akmal Gaybiev ◽  
◽  
Aziza Djurabekova ◽  
Dilnoza Shomurodova
Keyword(s):  
Differential Diagnosis ◽  
Blood Serum ◽  
Diagnostic Criteria ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Treatment Method ◽  
Traditional Treatment ◽  
Immunological Mechanisms ◽  
Acute Polyradiculoneuritis

The study examined 35 children with acute polyradiculoneuritis; In the course of molecular genetic research, antiganglioside antibodies were detected in the blood serum, which is a criterion for the differential diagnosis of acute polyradiculoneuritis. Against the background of traditional treatment, taking into account the data of immunological studies, the cyclophosphamide preparation was included in the treatment complex. Positive clinical and neurological dynamics confirmed the correctness of this treatment method

Multifactorial and hereditary connective tissue disorders in children. diagnostic algorithms. management tactics. russian guidelines

2016 ◽  
Vol 7 (2) ◽  
pp. 5-39 ◽  
Author(s):  
Larisa N Abbakumova ◽  
Vadim G Arsentev ◽  
Sergey F Gnusaev ◽  
Irina I Ivanova ◽  
Tamara I Kadurina ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Diagnostic Criteria ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Clinical Manifestations ◽  
Underlying Disease ◽  
Additional Treatment ◽  
Molecular Techniques ◽  
Comprehensive Treatment ◽  
Inherited Disorders

Monogenic forms of inherited disorders of connective tissue and multifactorial connective tissue dysplasia are quite common in the population. Despite the high level of modern molecular techniques, clarification of their nosology of today, still remains a distant prospect. These difficulties are due to a large variety of mutations expressed their phenotypic polymorphism clinical manifestations, the considerable size of the genes encoding the proteins of the connective tissue, a rarity major mutations and low availability of molecular genetic research methods to verify the diagnosis. Clarification of the incidence of connective tissue displasia hindered by the lack of common terminology, standardized diagnostic criteria, as well as the practical inaccessibility of modern molecular genetic techniques to identify this heterogeneous pathology. The first part is devoted to the recommendations of the pediatric aspects of diagnosis of hereditary disorders of connective tissue with agreed international diagnostic criteria, and connective tissue displasia. Details covered principles of tactics and treatment of patients with this pathology. The attention of researchers aimed at studying the problems of the modifying effect of this disease on the nature of the flow of almost all diseases. This proves the feasibility of making additions to the standards of inspection and management of these patients with the mandatory inclusion of a comprehensive treatment of the underlying disease additional treatment and rehabilitation, correcting disorders caused by comorbidities.

scholarly journals Autoinflammatory Features in Gouty Arthritis

2021 ◽  
Vol 10 (9) ◽  
pp. 1880
Author(s):  
Paola Galozzi ◽  
Sara Bindoli ◽  
Andrea Doria ◽  
Francesca Oliviero ◽  
Paolo Sfriso
Keyword(s):  
Differential Diagnosis ◽  
Inflammatory Arthritis ◽  
Important Implication ◽  
Gouty Arthritis ◽  
Molecular Genetic ◽  
Therapeutic Options ◽  
Monosodium Urate ◽  
Inflammatory Pathways ◽  
Genetic Contributions

In the panorama of inflammatory arthritis, gout is the most common and studied disease. It is known that hyperuricemia and monosodium urate (MSU) crystal-induced inflammation provoke crystal deposits in joints. However, since hyperuricemia alone is not sufficient to develop gout, molecular-genetic contributions are necessary to better clinically frame the disease. Herein, we review the autoinflammatory features of gout, from clinical challenges and differential diagnosis, to the autoinflammatory mechanisms, providing also emerging therapeutic options available for targeting the main inflammatory pathways involved in gout pathogenesis. This has important implication as treating the autoinflammatory aspects and not only the dysmetabolic side of gout may provide an effective and safer alternative for patients even in the prevention of possible gouty attacks.

scholarly journals Population Genetic Structure Analysis Reveals Decreased but Moderate Diversity for the Oriental Fire-Bellied Toad Introduced to Beijing after 90 Years of Independent Evolution

Animals ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 1429
Author(s):  
Yang Teng ◽  
Jing Yang ◽  
Guofen Zhu ◽  
Fuli Gao ◽  
Yingying Han ◽  
...  
Keyword(s):  
Genetic Structure ◽  
Structure Analysis ◽  
Phylogenetic Trees ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Haplotype Diversity ◽  
Botanical Garden ◽  
Source Population ◽  
Independent Evolution ◽  
Loop Region

Detailed molecular genetic research on amphibian populations has a significant role in understanding the genetic adaptability to local environments. The oriental fire-bellied toads (Bombina orientalis) were artificially introduced to Beijing from Shandong Province in 1927, and since then, this separated population went through an independent evolution. To explore the differentiation of the introduced population with its original population, this study analyzed the genetic structure of the oriental fire-bellied toad, based on the mitochondrial genome control region and six microsatellite sites. The results showed that the haplotype diversity and nucleotide diversity of the mitochondrial D-loop region partial sequences of the Beijing Botanical Garden population and the Baiwangshan population were lower than those of the Shangdong Kunyushan population. Microsatellite marker analysis also showed that the observed heterozygosity and expected heterozygosity of the Beijing populations were lower than those of the Kunyushan population. The phylogenetic trees and network diagrams of haplotypes indicated that the three populations were not genetically separated. However, the structure analysis showed a genetic differentiation and categorized the sampling individuals into Beijing and Shandong genetic clusters, which indicated a tendency for isolated evolution in the Beijing population. Although the Beijing populations showed a decline in genetic diversity, it was still at a moderate level, which could maintain the survival of the population. Thus, there is no need to reintroduce new individuals from the Kunyushan source population.

scholarly journals Somatic embryo induction and Agrobacterium-mediated transformation of embryonic callus tissue in Phoebe bournei, an endangered woody species in Lauraceae

2020 ◽  
Vol 48 (2) ◽  
pp. 572-587
Author(s):  
Wenting XU ◽  
Miao ZHANG ◽  
Chen WANG ◽  
Xiongzhen LOU ◽  
Xiao HAN ◽  
...  
Keyword(s):  
Genetic Transformation ◽  
Germination Rate ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Woody Species ◽  
Technical System ◽  
Transformation Rate ◽  
Original Material ◽  
Embryonic Callus ◽  
Phoebe Bournei

Phoebe bournei, a plant species endemic to China, is a precious timber tree and widely used in landscaping. This tree contains numerous secondary metabolites, underscoring its potential economic value. However, studies on this species, including molecular genetic research, remain limited. In this study, both a somatic embryogenesis (SE) technical system and Agrobacterium-mediated genetic transformation were successfully employed in P. bournei for the first time. The SE technical system was constructed using immature embryos as original material. The primary embryo and embryonic callus induction rates were 30.66% and 41.67%, respectively. The highest rate of embryonic callus proliferation was 3.84. The maximum maturity coefficient and germination rate were 53.44/g and 39%, respectively. Agrobacterium-mediated genetic transformation was performed using the SE technical system, and the highest transformation rate was 11.24%. The results presented here are the first to demonstrate an efficient approach to achieve numerous P. bournei plantlets, which serves as the basis for artificial cultivation and resource conservation. Furthermore, the genetic transformation platform constructed in this study will facilitate assessment of gene function and molecular regulation.

scholarly journals Cervicogenic headache: Josey's cases revisited

1997 ◽  
Vol 55 (4) ◽  
pp. 841-848 ◽  
Author(s):  
Maurice Vincent ◽  
Renato A. Luna
Keyword(s):  
Differential Diagnosis ◽  
Diagnostic Criteria ◽  
Clinical Picture ◽  
High Frequency ◽  
Female Gender ◽  
Cervicogenic Headache ◽  
Common Disorder ◽  
Recommended Treatment ◽  
Previous Trauma

Before Sjaastad coined the term cervicogenic headache (CH) 15 years ago, neck-related headaches have been considered by different authors for many years. Even after the publication of diagnostic criteria, dispute on the clinical picture, differential diagnosis, pathophysiology and treatment of CH still persists. A paper published in 1949 by Josey reports on 6 "illustrative" cases of cervical-related headaches. Indeed, looked from a more recent perspective, those cases could eventually correspond to CH. Important topics such as the relatively high frequency, fixed unilaterality of the pain, relation to previous trauma, irradiation from the back to the forehead, normal or slightly abnormal roentgenograms, and the mechanical precipitation of attacks are some of the topics considered by Josey. The female gender was not prevalent in Josey's series. Traction and analgesics were basically the recommended treatment. CH is probably a common disorder, an idea already considered by a clinician in 1949. This syndrome was not adequately described before Sjaastad's group papers in the 80's.

scholarly journals The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome

2005 ◽  
Vol 26 (2) ◽  
pp. 251-282 ◽  
Author(s):  
Héctor F. Escobar-Morreale ◽  
Manuel Luque-Ramírez ◽  
José L. San Millán
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Molecular Genetic Basis ◽  
Functional Hyperandrogenism

The genetic mechanisms underlying functional hyperandrogenism and the polycystic ovary syndrome (PCOS) remain largely unknown. Given the large number of genetic variants found in association with these disorders, the emerging picture is that of a complex multigenic trait in which environmental influences play an important role in the expression of the hyperandrogenic phenotype. Among others, genomic variants in genes related to the regulation of androgen biosynthesis and function, insulin resistance, and the metabolic syndrome, and proinflammatory genotypes may be involved in the genetic predisposition to functional hyperandrogenism and PCOS. The elucidation of the molecular genetic basis of these disorders has been burdened by the heterogeneity in the diagnostic criteria used to define PCOS, the limited sample size of the studies conducted to date, and the lack of precision in the identification of ethnic and environmental factors that trigger the development of hyperandrogenic disorders. Progress in this area requires adequately sized multicenter collaborative studies after standardization of the diagnostic criteria used to classify hyperandrogenic patients, in whom modifying environmental factors such as ethnicity, diet, and lifestyle are identified with precision. In addition to classic molecular genetic techniques such as linkage analysis in the form of a whole-genome scan and large case-control studies, promising genomic and proteomic approaches will be paramount to our understanding of the pathogenesis of functional hyperandrogenism and PCOS, allowing a more precise prevention, diagnosis, and treatment of these prevalent disorders.

scholarly journals Diagnostic importance of zinc in the clarification of pleural effusions etiology

2002 ◽  
Vol 59 (4) ◽  
pp. 385-387
Author(s):  
Bosko Rankovic ◽  
Ruzica Djordjevic
Keyword(s):  
Differential Diagnosis ◽  
Pleural Effusion ◽  
Blood Serum ◽  
Zinc Concentration ◽  
Pleural Effusions ◽  
Pleural Diseases ◽  
Average Value ◽  
Zinc Concentrations ◽  
Tuberculous Pleurisy ◽  
Diagnostic Importance

Concentration of zinc in blood serum and effusion was determined in 104 patients with the pleural effusion of different etiology. The importance of zinc concentration in serum and effusion was analyzed, as well as their relation regarding the differential diagnosis of pleural effusion. It was established that the isolated zinc concentrations in serum and pleural effusion could not be used separately either in differing transudates from exudates or in the diagnosis of the pleural diseases. The average value of zinc in the pleural effusion in relation to the serum value in patients with tuberculosis effusion was 1.37, higher than 1 in all patients and was significantly different from the average value of the ratio 0,74 in patients with nonspecific and malignant pleural effusions. The relation of zinc concentration in the effusion and serum higher than 1.0 reliably indicated the presence of tuberculous pleurisy.

scholarly journals Insights into Dyslexia Genetics Research from the Last Two Decades

2021 ◽  
Vol 12 (1) ◽  
pp. 27
Author(s):  
Florina Erbeli ◽  
Marianne Rice ◽  
Silvia Paracchini
Keyword(s):  
Language Disorder ◽  
Association Studies ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
Genome Wide Association Studies ◽  
Genetics Research ◽  
Genome Wide ◽  
Genetic Risks

Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

scholarly journals Genetic identification of bovine leukaemia virus

2018 ◽  
Vol 6 (2) ◽  
pp. 314-324 ◽  
Author(s):  
Irina Donnik ◽  
Irina Donnik ◽  
Ramil Vafin ◽  
Ramil Vafin ◽  
Aram Galstyan ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Research Methods ◽  
Bovine Leukemia Virus ◽  
Leukemia Virus ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Identification ◽  
Gene Fragment ◽  
Phylogenetic Classification ◽  
Pcr Rflp

Molecular genetic research methods make it possible to evaluate the genetic diversity of bovine leukemia virus (BLV) and are the most informative approaches to its genetic identification. Molecular genetic research methods work well for the phylogenetic analysis of sequenced nucleotide DNA sequences of the provirus, as well as for the polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) according to the phylogenetic classification of the pathogen. The purpose of the research was to study the scientific and methodological approaches to the genetic identification of bovine leukemia virus, integrated into the molecular monitoring of infection of cattle with BLV genotypes. The authors used PCR-RFLP-genotyping and comparative phylogenetic analysis of aligned nucleotide sequences of the env gene fragment of the BLV provirus isolates to detect the genotypic affiliation of the cattle from twenty-one livestock farms of the Republic of Tatarstan. As a result, isolates of four out of ten BLV genotypes were found in the Tatarstani cattle, namely genotypes 1, 4, 7, and 8. The research involved a comparative analysis of 505 nucleotide sequences of a fragment of the BLV env gene, including those deposited in GenBank NCBI. The analysis confirms the inconsistency of several earlier PCR-RFLP typing strategies with the current approach in assessing the genotypic diversity by phylogenetic analysis. The improved strategy of PCR-RFLP genotyping of BLV corresponds with its modern phylogenetic classification. The strategy makes it possible to identify all the known genotypes of the viral pathogen. Its validity has been proved by in silico modelling of restrictogrammes and a phylogenetic analysis of the env gene fragment of 57 reference isolates of ten BLV genotypes that generate 57 genotype-associated combinations of diagnostically significant PCR-RFLP profiles.

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