Orphan diseases (mucopolysaccharidosis) and damage of the cardiovascular system. Literature review

2021 ◽  
Author(s):  
S. M. Pyvovar ◽  
Y. S. Rudyk ◽  
L. V. Panina ◽  
O. B. Krotova
Keyword(s):  
Genetic Counseling ◽  
Cardiovascular System ◽  
Viral Vectors ◽  
Molecular Genetic ◽  
Dna Diagnosis ◽  
Experimental Conditions ◽  
Cardiovascular Pathology ◽  
Enzyme Replacement ◽  
Surgical Methods ◽  
Artery Disease

The paper presents literature data, outlining topical issues of the cardiovascular pathology at   mucopolysaccharidosis. It is damage to the heart and blood vessels, one of the cardinal signs of this pathology, that is often fatal. Cardiac pathology is recorded in all types of mucopolysaccharidosis, but it is most significant for patients with three clinical variants of Hurler syndrome, Hunter, and Maroteaux–Lamy syndromes. Typical signs of damage to the cardiovascular system in mucopolysaccharidosis are thickening of the valves with the development of their dysfunction (while the severity of damage to the left‑sided valves is more pronounced), myocardial hypertrophy, conduction disturbance, coronary artery disease, arterial hypertension. Many researchers emphasize the difficulties of clinical and functional examination of the cardiovascular system in patients with mucopolysaccharidosis, which is due to the presence of physical and intellectual limitations in patients, and a gradual symptoms aggravation. For the treatment of cardiovascular pathology at mucopolysaccharidosis, medical and surgical methods are used, including enzyme replacement therapy and stem cell transplantation. Gene therapy is considered one of the priority areas in the treatment of mucopolysaccharidosis. Significant progress in this aspect has been achieved with the use of viral vectors under experimental conditions in mice with mucopolysaccharidosis type VII. The basis of mucopolysaccharidosis prevention is medical and genetic counseling of families with subsequent prenatal diagnosis using molecular genetic methods (eg, DNA diagnosis). Thus, early diagnosis and timely pathogenetic treatment of mucopolysaccharidosis will help to prevent disability and adequate integration into society, and effective medical and genetic counseling of families will significantly reduce the incidence of new cases of these severe inherited diseases.  

scholarly journals Sex differentiation in grayling (Salmonidae) goes through an all-male stage and is delayed in genetic males who instead grow faster

2017 ◽  
Author(s):  
Diane Maitre ◽  
Oliver M. Selmoni ◽  
Anshu Uppal ◽  
Lucas Marques da Cunha ◽  
Laetitia G. E. Wilkins ◽  
...  
Keyword(s):  
Gene Expression ◽  
Sex Determination ◽  
Sex Differentiation ◽  
Sex Ratios ◽  
Molecular Genetic ◽  
Specific Gene ◽  
Genetic Sexing ◽  
Experimental Conditions ◽  
Two Samples

AbstractFish can be threatened by distorted sex ratios that arise during sex differentiation. It is therefore important to understand sex determination and differentiation, especially in river-dwelling fish that are often exposed to environmental factors that may interfere with sex differentiation. However, sex differentiation is not sufficiently understood in keystone taxa such as the Thymallinae, one of the three salmonid subfamilies. Here we study a wild grayling (Thymallus thymallus) population that suffers from distorted sex ratios. We found sex determination in the wild and in captivity to be genetic and linked to the sdY locus. We therefore studied sex-specific gene expression in embryos and early larvae that were bred and raised under different experimental conditions, and we studied gonadal morphology in five monthly samples taken after hatching. Significant sex-specific changes in gene expression (affecting about 25,000 genes) started around hatching. Gonads were still undifferentiated three weeks after hatching, but about half of the fish showed immature testes around seven weeks after hatching. Over the next few months, this phenotype was mostly replaced by the “testis-to-ovary” or “ovaries” phenotypes. The gonads of the remaining fish, i.e. approximately half of the fish in each sampling period, remained undifferentiated until six months after fertilization. Genetic sexing of the last two samples revealed that fish with undifferentiated gonads were all males, who, by that time, were on average larger than the genetic females (verified in 8-months old juveniles raised in another experiment). Only 12% of the genetic males showed testicular tissue six months after fertilization. We conclude that sex differentiation starts around hatching, goes through an all-male stage for both sexes (which represents a rare case of “undifferentiated” gonochoristic species that usually go through an all-female stage), and is delayed in males who, instead of developing their gonads, grow faster than females during these juvenile stages.Author contributionMRR and CW initiated the project. DM, OS, AU, LMC, LW, and CW sampled the adult fish, did the experimental in vitro fertilizations, and prepared the embryos for experimental rearing in the laboratory. All further manipulations on the embryos and the larvae were done by DM, OS, AU, LMC, and LW. The RNA-seq data were analyzed by OS, JR, and MRR, the histological analyses were done by DM, supervised by SK, and the molecular genetic sexing was performed by DM, OS, AU, and KBM. DM, OS, and CW performed the remaining statistical analyses and wrote the first version of the manuscript that was then critically revised by all other authors.

Prevalence of cardiovascular pathology among drivers of motor transport

1999 ◽  
Vol 80 (1) ◽  
pp. 8-12
Author(s):  
А. S. Bashkireva ◽  
I. А. Latfullin ◽  
G. V. Vafina
Keyword(s):  
Cardiovascular System ◽  
Cardiovascular Pathology ◽  
Motor Transport ◽  
Functional Reserves ◽  
Increased Risk

The prevalence of cardiovascular pathology among drivers of motor transport in age aspect taking into account freitage specificity is analyzed. The results obtained make it possible to refer drivers of trucks aged 40 to 50 to the group of increased risk of cardiovascular pathology development. The use of donozologic diagnosis methods in giving employment allows to perform timely elimination of persons with primordially low functional reserves and adaptational potential of cardiovascular system.

Clinical and genetic parallels of the classification and diagnosis of Ehlers-Danlos syndrome

2021 ◽  
pp. 14-26
Author(s):  
Д.Д. Надыршина ◽  
А.В. Тюрин ◽  
Э.К. Хуснутдинова ◽  
Р.И. Хусаинова
Keyword(s):  
Genetic Counseling ◽  
Family Medicine ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Hereditary Disease ◽  
Orphan Diseases ◽  
Ehlers Danlos Syndrome ◽  
General Medical Practice ◽  
Molecular Genetic Basis ◽  
Danlos Syndrome

Статья посвящена обсуждению подходов к классификации и обзору доступных литературных данных о клинической вариабельности и молекулярно-генетических основах патогенеза редкого наследственного заболевания - синдрома Элерса-Данло. Представленный обзор расширит представление о патогенезе и позволит оптимизировать диагностику данного синдрома, определить тактику лечения и медико-генетического консультирования отягощенных семей как клиническим генетикам, специалистам в области изучения орфанных заболеваний, так и врачам терапевтам, специалистам семейной медицины и общей врачебной практики. The article is devoted to the discussion of approaches to the classification and review of the available literature data on clinical variability and the molecular genetic basis of the pathogenesis of a rare hereditary disease - Ehlers-Danlos syndrome. The presented review will expand the understanding of the pathogenesis and allow to optimize the diagnosis of this syndrome, to determine the tactics of treatment and medical and genetic counseling of burdened families, both to clinical geneticists, specialists in the study of orphan diseases, and to general practitioners, specialists in family medicine and general medical practice.

scholarly journals Cardiovascular system and COVID-19: perspectives from a developing country

2020 ◽  
Vol 90 (2) ◽  
Author(s):  
Shekhar Kunal ◽  
Kashish Gupta ◽  
Shashi Mohan Sharma ◽  
Vijay Pathak ◽  
Shruti Mittal ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cardiovascular System ◽  
Care Delivery ◽  
Cardiac Injury ◽  
Coronary Syndrome ◽  
Infectivity Rate ◽  
The Common ◽  
Artery Disease ◽  
Novel Coronavirus ◽  
Cardiovascular Care

A novel coronavirus, SARS-CoV-2, thought to have originated from bats causes COVID-19 infection which was first reported from Wuhan, China in December 2019. This virus has a high infectivity rate and has impacted a significant chunk of the population worldwide. The spectrum of disease ranges from mild to severe with respiratory system being the most commonly affected. Cardiovascular system often gets involved in later stages of the disease with acute cardiac injury, heart failure and arrhythmias being the common complications. In addition, the presence of cardiovascular co-morbidities such as hypertension, coronary artery disease in these patients are often associated with poor prognosis. It is still not clear regarding the exact mechanism explaining cardiovascular system involvement in COVID-19. Multiple theories have been put forward however, more robust studies are required to fully elucidate the “heart and virus” link. The disease has already made its presence felt on the global stage and its impact in the developing countries is going to be profound. These nations not only have a poorly developed healthcare system but there is also a huge burden of cardiovascular diseases. As a result, COVID-19 would adversely impact the already overburdened healthcare network leading to impaired cardiovascular care delivery especially for acute coronary syndrome and heart failure patients.

Inherited Cardiac Disease

2020 ◽  
Keyword(s):  
Cardiovascular System ◽  
Cardiac Disease ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Clinical Genetics ◽  
Cardiac Diseases ◽  
Inherited Disease ◽  
National Guidelines ◽  
Inherited Diseases ◽  
Inherited Cardiac Disease

Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition’s broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. After chapters on the general principles of cardiovascular genetics, genetic testing and counselling, individual disorders are then examined in detail, each account featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.

Vasodepressor responses elicited by diencephalic stimulation in dogs

1964 ◽  
Vol 207 (4) ◽  
pp. 915-920 ◽  
Author(s):  
Ralph J. Gorten ◽  
Orville A. Smith ◽  
Robert F. Rushmer
Keyword(s):  
Central Nervous System ◽  
Heart Rate ◽  
Arterial Pressure ◽  
Cardiovascular System ◽  
System Control ◽  
Experimental Conditions ◽  
Nervous Control ◽  
Anesthetized Dogs ◽  
Systemic Arteries ◽  
Central Nervous System Control

Tachycardia and peripheral vasoconstriction are the usual means by which the cardiovascular system, under nervous control, attempts to compensate for a lowering of pressure in the systemic arteries. When such compensatory efforts are absent during sudden, unexpected periods of hypotension, an alteration in central nervous system control should be suspected. The possibility of producing such alterations in the control of the circulation under experimental conditions was studied in five anesthetized dogs. Diencephalic areas were found in which electrical stimulation evoked a lowering of arterial pressure in the absence of tachycardia. Electrodes were chronically implanted in these areas so that stimulation could be performed in the unanesthetized state. The observed effects on the cardiovascular system were not always the same as those induced while the animals were anesthetized. The decrease in arterial pressure was usually less in extent. Occasionally an actual rise in pressure occurred, followed after the period of stimulation by a decrease in arterial pressure and heart rate.

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