scholarly journals Biochemical, molecular genetic and clinical aspects of COVID-2019

2021 ◽  
Vol 20 (1) ◽  
pp. 147-157
Author(s):  
E. V. Kashtanova ◽  
E. V. Shakhtshneider ◽  
M. V. Kruchinina ◽  
I. I. Logvinenko ◽  
E. V. Striukova ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Clinical Aspects

Molecular Basis and Clinical Aspects of Hereditary Megakaryocyte and Platelet Membrane Glycoprotein Disorders

1996 ◽  
Vol 16 (02) ◽  
pp. 114-138 ◽  
Author(s):  
R. E. Scharf
Keyword(s):  
Genetic Basis ◽  
Molecular Mechanisms ◽  
Molecular Genetic ◽  
Platelet Membrane ◽  
Clinical Aspects ◽  
Membrane Glycoprotein ◽  
Membrane Glycoproteins ◽  
Membrane Expression ◽  
Receptor Complexes ◽  
Platelet Membrane Glycoprotein

SummarySpecific membrane glycoproteins (GP) expressed by the megakaryocyte-platelet system, including GPIa-lla, GPIb-V-IX, GPIIb-llla, and GPIV are involved in mediat-ing platelet adhesion to the subendothelial matrix. Among these glycoproteins, GPIIb-llla plays a pivotal role since platelet aggregation is exclusively mediated by this receptor and its interaction with soluble macromolecular proteins. Inherited defects of the GPIIb-llla or GPIb-V-IX receptor complexes are associated with bleeding disorders, known as Glanzmann's thrombasthenia, Bernard-Soulier syndrome, or platelet-type von Willebrand's disease, respectively. Using immuno-chemical and molecular biology techniques, rapid advances in our understanding of the molecular genetic basis of these disorders have been made during the last few years. Moreover, analyses of patients with congenital platelet membrane glycoprotein abnormalities have provided valuable insights into molecular mechanisms that are required for structural and functional integrity, normal biosynthesis of the glycoprotein complexes and coordinated membrane expression of their constituents. The present article reviews the current state of knowledge of the major membrane glycoproteins in health and disease. The spectrum of clinical bleeding manifestations and established diagnostic criteria for each of these dis-orders are summarized. In particular, the variety of molecular defects that have been identified so far and their genetic basis will be discussed.

scholarly journals Aggressive Ciliary Body Adenocarcinoma with Bilateral Lung Metastases: Histological, Molecular, Genetic and Clinical Aspects

2018 ◽  
Vol 5 (2) ◽  
pp. 79-84
Author(s):  
Konstantinos Kopsidas ◽  
Hardeep Mudhar ◽  
Karen Sisley ◽  
David W. Hammond ◽  
L. Worthington ◽  
...  
Keyword(s):  
Ciliary Body ◽  
Lung Metastases ◽  
Molecular Genetic ◽  
Clinical Aspects ◽  
Bilateral Lung

Hemoglobin: Molecular, genetic and clinical aspects

Cell ◽  
1987 ◽  
Vol 48 (5) ◽  
pp. 731 ◽  
Author(s):  
Arthur W. Nienhuis
Keyword(s):  
Molecular Genetic ◽  
Clinical Aspects

scholarly journals A Pilot Study about Clinical Features of Aberrations Chromosome 22q

2021 ◽  
Author(s):  
Emine Ikbal Atli ◽  
Engin Atli ◽  
Sinem Yalcintepe ◽  
Selma Demir ◽  
Cisem Mail ◽  
...  
Keyword(s):  
Heart Diseases ◽  
Phenotypic Variability ◽  
Molecular Genetic ◽  
Case Series ◽  
Proximal Region ◽  
Clinical Aspects ◽  
Chromosome 22 ◽  
Phenotypic Differences ◽  
Chromosome 22Q ◽  
Behavior Issues

Abstract Objective A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of the 22q chromosome, are now well-defined.Our aim in the study was to show phenotypic variability associated with rearrangements of the 22q chromosomal region. Methods We focused our study on clinical aspects of these disorders, including genetic testing, genotype-phenotype correlation, and potential treatments. A total of 998 patients were referred for genetic analysis (Karyotyping, MLPA, array-CGH) during January 2015 to February 2020 because of intellectual deficiency, behavior issues, and/or multiple congenital abnormalities in several genetics departments. Informed consent was obtained from all the patients and/or their parents. Results 22q11.21 or 22q13.33 microdeletions and 22q11.22-q11.23 microduplication were identified in 31 patients out of referrals. The 22q aberrations were detected in 31/998 patients, giving a prevalence of 3.1%. In this study, 18 patients with 22q11.2 (LCR22A-H) deletion, three patients with 22q13.31 deletion, 9 patients with 22q11.2 duplication and one patient with 22q13.31 duplication were identified. We report on the clinical and molecular characterization of 31 individuals with distal deletions and duplications of chromosome 22q. Conclusions The current study demonstrated in the largest postnatal case series reporting the whole spectrum of atypical phenotypic and genotypic variations at 22q. We believe that when all the phenotypic differences are taken into account, various anomalies including developmental delay and intellectual disability might be considered as an indication to search for aberrations of 22q along with congenital heart diseases.

scholarly journals Comparative characteristics of human betaherpesviruses 6A and 6B. A modern view on the problem

2021 ◽  
Vol 13 (3) ◽  
pp. 5-18
Author(s):  
M. I. Popkova ◽  
O. V. Utkin ◽  
D. A. Bryzgalova
Keyword(s):  
Differential Diagnosis ◽  
Molecular Genetic ◽  
Human Herpesvirus ◽  
Evidence Base ◽  
Epidemiological Surveillance ◽  
Clinical Aspects ◽  
Interspecies Differences ◽  
Associated Diseases ◽  
Wide Range ◽  
Methodological Approaches

This review is devoted to the comparative characteristics of human herpesvirus 6A (HHV6A) and human herpesvirus 6B (HHV6B), taking into account their exogenous and endogenous (inherited chromosomally integrated) forms. The analysis of the literature data on the main interspecies differences and intraspecies features of these viruses in molecular-genetic, biological, epidemiological and clinical aspects has been consistently carried out. Modern views about HHV6A and HHV6B, including their unique inherited chromosomal-integrated form, are the basis for organizing a system of epidemiological surveillance of infections caused by these viruses, as well as developing standardized methodological approaches to differential diagnosis, treatment and specific prevention of a wide range of virus-associated diseases. The development of this direction requires a greater evidence base and intensification of joint efforts of the scientific and medical communities.

scholarly journals High-Grade Serous Ovarian Cancer: Basic Sciences, Clinical and Therapeutic Standpoints

2019 ◽  
Vol 20 (4) ◽  
pp. 952 ◽  
Author(s):  
Michael-Antony Lisio ◽  
Lili Fu ◽  
Alicia Goyeneche ◽  
Zu-hua Gao ◽  
Carlos Telleria
Keyword(s):  
Ovarian Cancer ◽  
Reproductive Tract ◽  
Scientific Discovery ◽  
Molecular Genetic ◽  
Treatment Strategies ◽  
Female Reproductive Tract ◽  
Clinical Aspects ◽  
Anatomical Site ◽  
High Grade ◽  
Serous Ovarian Cancer

Among a litany of malignancies affecting the female reproductive tract, that of the ovary is the most frequently fatal. Moreover, while the steady pace of scientific discovery has fuelled recent ameliorations in the outcomes of many other cancers, the rates of mortality for ovarian cancer have been stagnant since around 1980. Yet despite the grim outlook, progress is being made towards better understanding the fundamental biology of this disease and how its biology in turn influences clinical behaviour. It has long been evident that ovarian cancer is not a unitary disease but rather a multiplicity of distinct malignancies that share a common anatomical site upon presentation. Of these, the high-grade serous subtype predominates in the clinical setting and is responsible for a disproportionate share of the fatalities from all forms of ovarian cancer. This review aims to provide a detailed overview of the clinical-pathological features of ovarian cancer with a particular focus on the high-grade serous subtype. Along with a description of the relevant clinical aspects of this disease, including novel trends in treatment strategies, this text will inform the reader of recent updates to the scientific literature regarding the origin, aetiology and molecular-genetic basis of high-grade serous ovarian cancer (HGSOC).

scholarly journals Molecular genetic and clinical aspects of socially relevant viruses underlying congenital diseases

2021 ◽  
Vol 11 (4) ◽  
pp. 635-648
Author(s):  
V. V. Vasilev ◽  
N. V. Rogozina ◽  
A. A. Grineva
Keyword(s):  
Herpes Simplex Virus ◽  
Herpes Simplex ◽  
Infectious Diseases ◽  
Virus Type ◽  
Herpes Simplex Virus Type ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Clinical Aspects ◽  
Herpes Simplex Viruses ◽  
Simplex Virus

Congenital viral infectious diseases are characterized by polyetiologic pathology holding an important place in the structure of perinatal losses. Due to the wide distribution and lack of specific prophylaxis, the problem of herpesvirus infections is of greatest interest, namely of herpes infection caused by herpes simplex virus type 1 and 2, human herpes simplex virus type 6 and cytomegalovirus infection, as well as parvovirus infection B19. The opportunities to investigate a relation between manifestations of the infectious process and host molecular genetic characteristics have been expanded after developing full genome sequencing methods and creating genetic data international banks. It has been proven that herpes virus genetic variations can account for related neurovirulence, showing that diverse cytomegalovirus genotypes are associated with hepatosplenomegaly, hearing impairment and the symptoms of the central nervous system diseases. Nevertheless, the data on correlation between genotypes and clinical manifestations are still scarce and contradictory, whereas high level of variability becomes extremely evident while comparing genomic sequences of viral strains. The herpesvirus type 6 has been proven to integrate into germ cells with potential for subsequent vertical transmission of chromosomally integrated virus to the offspring and its further intergeneration inheritance. А direct relationship between B19V genospecies and disease manifestations including congenital infections has not yet been identified. Taking into account possible differences in the geographical distribution of such viruses on the territory of the Russian Federation, ethnic populational characteristics, and high frequency of related congenital infectious diseases with a wide range of clinical manifestations, it seems promising to expand scientific research on the genotyping of herpes simplex viruses, cytomegalovirus, herpes viruses type 6 and parvovirus B19V in Russia. The results of such studies will be demanded by practical healthcare in order to develop and use more effective etiotropic drugs and specific prophylaxis in the light of trends to develop personalized and preventive medicine.

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