scholarly journals During’s herpetiform dermatitis in pediatric dermatology: issues of diagnostics and treatment

2020 ◽  
Vol 11 (6) ◽  
pp. 79-86
Author(s):  
Yuri A. Novikov ◽  
Denis V. Zaslavsky ◽  
Olga V. Pravdina ◽  
Elena A. Zykova ◽  
Anastasia S. Lipatnikova ◽  
...  
Keyword(s):  
Clinical Observation ◽  
Dermatitis Herpetiformis ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Hla Typing ◽  
Rare Occurrence ◽  
Pediatric Dermatology ◽  
Gluten Sensitive Enteropathy ◽  
Childhood Form ◽  
Immunohistochemical Studies

This article presents a case of clinical observation of a 5-year-old child with herpetiformis dermatitis (Duhrings). This rare dermatosis is characterized by a chronic relapsing course, the presence of itching polymorphic rashes, typical histological and immunomorphological signs. The diagnosis was made on the basis of the clinical picture, histological and immunohistochemical studies of skin biopsy, as well as the results of HLA typing by PCR. Clinical observation of this case is of interest to practicing physicians-dermatologists due to the rare occurrence of Duhrings herpetiformis in children, the complexity of differential diagnostic search, which requires further generalization of experience using histological, immunohistochemical and molecular genetic research methods. The disease is clearly differentiated from other rashes with the formation of subepidermal blisters according to histological, immunological and gastrointestinal criteria. The prevalence of dermatosis in various populations of the Europian race ranges from 10 to 39 cases per 100,000 population. Duhrings dermatitis herpetiformis can develop at any age (cases of the childhood form of Dhrings dermatitis herpetiformis have been reported), but most often the disease occurs at the age of 4050 years. Dermatitis herpetiformis persists indefinitely with variable severity. In patients with Duhrings dermatitis, associated gluten-sensitive enteropathy is often noted, which in most cases is asymptomatic.

SKULL TRAUMA AS ONE OF THE CAUSES FOR SUBDURAL HEMATOMA DEVELOPMENT IN AN INFANT WITH GLUTARIC ACIDURIA TYPE 1: A BRIEF REVIEW OF THE LITERATURE AND CLINICAL OBSERVATION

2021 ◽  
Vol 100 (1) ◽  
pp. 287-293
Author(s):  
Z.G. Tadtaeva ◽  
◽  
A.N. Galustyan ◽  
O.A. Gromova ◽  
P.A. Popov ◽  
...  
Keyword(s):  
Clinical Observation ◽  
Brain Mri ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Glutaric Aciduria Type ◽  
Review Of The Literature ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Subdural Hematomas

The article presents a brief review of the literature and clinical observation of glutaric aciduria type 1 (GA1) in a child, manifested by encephalitis-like crisis and subdural hematomas, which were initially regarded as the consequences of traumatic brain injury. Based on the analysis of clinical and neuroimaging data, the diagnosis of GA1 was assumed, which was later confirmed by molecular genetic research. After therapy with the inclusion of a specialized diet with protein restriction, some improvement in motor activity was noted. The presence of bilateral subdural hematomas dictates the need for differential diagnosis with GA1. A highly informative method of diagnosing GA1 is brain MRI.

scholarly journals Phenotypic transformation as a cause of secondary drug resistance to osimetinib clinical observation

2018 ◽  
pp. 130-135
Author(s):  
L. A. Nelyubina ◽  
E. V. Reutova ◽  
K. K. Laktionov ◽  
D. I. Yudin ◽  
D. T. Marinov ◽  
...  
Keyword(s):  
Drug Resistance ◽  
Kinase Inhibitors ◽  
Clinical Observation ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Acquired Drug Resistance ◽  
Full Control ◽  
Egfr Tyrosine Kinase Inhibitors ◽  
Phenotypic Transformation ◽  
First And Second Generation

Targeted therapy is the optimal treatment of patients with advanced EGFR-positive NSCLC. The first- and second-generation EGFR tyrosine kinase inhibitors provide a durable antitumor response in most patients during the year. Due to appearance of T790M secondary mutation of resistance at progression of the disease, the administration of osimertinib leads to full control of the tumour for another 10 months. However, this is not the only mechanism of acquired drug resistance. A repeated biopsy of the tumour followed by histological and molecular genetic research makes it possible to clarify the cause of resistance and personalize the further disease management.

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.

Perineurioma: A Distinctive and Underrecognized Peripheral Nerve Sheath Neoplasm

2007 ◽  
Vol 131 (4) ◽  
pp. 625-636
Author(s):  
Ricardo S. Macarenco ◽  
Fred Ellinger ◽  
Andre M. Oliveira
Keyword(s):  
Peripheral Nerve ◽  
English Language ◽  
Molecular Genetic ◽  
S100 Protein ◽  
Correct Identification ◽  
Histologic Diagnosis ◽  
Genetic Studies ◽  
Nerve Sheath ◽  
Immunohistochemical Studies ◽  
Perineurial Cells

Abstract Context.—Perineuriomas are benign peripheral nerve sheath neoplasms composed of perineurial cells with characteristic immunohistochemical and ultrastructural features. They have been traditionally classified into two main types according to their location—intraneural and extraneural—and overlap histologically with many other tumors, which may be diagnostically challenging to general surgical pathologists. Objective.—To review the clinical, morphologic, immunohistochemical, ultrastructural, cytogenetic, and molecular genetic aspects of perineurioma, as well as to discuss its clinicopathologic variants and differential diagnosis. Data Sources.—English-language literature published between 1966 and 2005 was reviewed. Conclusions.—The correct identification of perineuriomas is important to avoid unnecessary overtreatment. The histologic diagnosis should be confirmed through immunohistochemical studies (including epithelial membrane antigen, S100 protein, and more recently described antibodies such as claudin-1 and GLUT1) or electron microscopy. Cytogenetic and molecular genetic studies are still of limited value for the diagnosis of perineuriomas but may play a fundamental role in excluding important differential diagnoses and also in helping elucidate the biology of these poorly known neoplasms.

scholarly journals Urinary incontinence: Clinical observation on 30 patients undergoing treatment with F.R.E.M.S (Frequency Rhythmic Electrical Modulation System)

2015 ◽  
Vol 87 (3) ◽  
pp. 243
Author(s):  
Massimo Massari ◽  
Patrizia Desideri ◽  
Paolo Menchinelli ◽  
Lucia Cerrito ◽  
Luciano De Giovanni
Keyword(s):  
Electric Fields ◽  
Clinical Observation ◽  
Clinical Results ◽  
Diagnostic Techniques ◽  
Pharmacological Therapy ◽  
Non Invasive ◽  
Impulse Duration ◽  
Electrical Modulation ◽  
Immunohistochemical Studies

Aim of the study: Urge incontinence is considered to be a dysfunctional pathology of social interest due to the psychological and relational implications of such disability, the elevated number of affected patients and the consequent treatment costs. We propose an innovative non-pharmacological and non-invasive care methodology: Frequency rhythmic electrical modulation system (F.R.E.M.S.) therapy (FT), based on the administration of electric fields of monophasic pulsed, negative, asymmetric current, generated by a neurostimulator with the characteristics of low variable frequency, high voltage and very low impulse duration. Material and Methods: 30 patients were studied with urodynamic evaluation and radiological diagnostic techniques, and underwent 2 cycles of 15 days therapy, with a 12 months follow-up. Results: In 93% of cases, we obtained a positive result, with either disappearance or improvement of symptoms. Conclusion: Although the Authors believe that clinical results deserve further neurohistological and immunohistochemical studies, in order to define the anathomophysiological and biochemical changes induced by FT, they propose it as a possible alternative to traditional pharmacological therapy and electrical stimulation.

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.

scholarly journals EVOLUTION OF DNA SEQUENCING METHODS AND PROSPECTS FOR THEIR USE IN FORENSIC DNA EXAMINATION

2020 ◽  
Vol 11 (87) ◽  
Author(s):  
Zhanna Bazyliuk ◽  
Keyword(s):  
Dna Sequencing ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Snp Markers ◽  
Degraded Dna ◽  
Phenotypic Traits ◽  
Nucleotide Polymorphisms ◽  
Biological Origin ◽  
Genetic Traits ◽  
Str Loci

The study of the human genome makes it possible to use genetic information to identify individual traits, diagnosis of diseases and forecasting and prevention of their development, promotes a personal approach when choosing treatment methods; population research, ethnogenesis and evolutionary processes. Introduction of DNA sequencing methods in domestic genetic fingerprinting will contribute to a more informative establishment of human genetic traits. The main purpose of molecular genetic research is to establish the genetic features of missing people, their relatives, to conduct paternity, to identify traces of biological origin and their identification. This article talks about the gradual development of DNA sequencing technology, which is conventionally divided into three types. The first type includes sequencing using capillary electrophoresis and pyrosequencing. The second type is high-throughput pyrosequencing, semiconductor, cyclic ligase, and the use of fluorescently labeled precursors, based on the sequencing of millions of DNA fragments simultaneously. The third stage includes methods that do not require prior sample preparation. These are methods of nanoporous sequencing, sequencing of one molecule, one-molecular sequencing. Today, each of the sequencing methods is aimed at performing different tasks. A number of methods are promising in the field of molecular-genetic examination. In world jurisprudence, sequencing is implemented mainly with the help of devices - Illumina’s, MiSeq FGx, Ion Torrent PGM from ThermoFisher and Ion S5. Research in forensic expertise of single nucleotide polymorphisms (SNP), sequencing of STR-loci and mitochondrial DNA, STR-loci and SNP-markers of the Y chromosome, will provide a high level of information, determination of human phenotypic traits, the possibility of establishing genetic traits from significantly degraded DNA. This article deals with modern problems of identification of human genetic traits and the prospect of introduction of the newest methods of sequencing for their qualitative and complete establishment.

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