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Journal articles on the topic 'Aspetti monogenici'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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1

De Rycke, M. "C2 PGD for monogenic diseases: Molecular aspects." Reproductive BioMedicine Online 20 (May 2010): S1. http://dx.doi.org/10.1016/s1472-6483(10)62256-0.

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2

Spits, Claudia, and Karen Sermon. "PGD for monogenic disorders: aspects of molecular biology." Prenatal Diagnosis 29, no. 1 (2008): 50–56. http://dx.doi.org/10.1002/pd.2161.

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3

Murphy, Rinki. "Monogenic diabetes and pregnancy." Obstetric Medicine 8, no. 3 (2015): 114–20. http://dx.doi.org/10.1177/1753495x15590713.

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Monogenic diabetes is frequently mistakenly diagnosed as either type 1 or type 2 diabetes, yet accounts for approximately 1–2% of diabetes. Identifying monogenic forms of diabetes has practical implications for specific therapy, screening of family members and genetic counselling. The most common forms of monogenic diabetes are due to glucokinase ( GCK), hepatocyte nuclear factor ( HNF) -1A and HNF-4A, HNF-1B, m.3243A>G gene defects. Practical aspects of their recognition, diagnosis and management are outlined, particularly as they relate to pregnancy. This knowledge is important for all ph

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4

Peterkova, V. A., T. L. Kuraeva, S. A. Prokof’ev, et al. "MOLECULAR GENETICS AND CLINICAL ASPECTS OF MONOGENIC DIABETES MELLITUS." Annals of the Russian academy of medical sciences 67, no. 1 (2012): 81–86. http://dx.doi.org/10.15690/vramn.v67i1.115.

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The paper is dedicated to clinical and laboratory aspects of Diabetes Mellitus non-immune forms, such as neonatal Diabetes Mellitus, Maturity Onset Diabetes of young (MODY), DIDMOAD-syndrome, Wolframe syndrome, Alstrom syndrome and its determinating genes. The analysis of proper clinical results are present in this paper.

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Lachance, Carl-Hugo. "Practical Aspects of Monogenic Diabetes: A Clinical Point of View." Canadian Journal of Diabetes 40, no. 5 (2016): 368–75. http://dx.doi.org/10.1016/j.jcjd.2015.11.004.

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Morais, J., H. T. Le та W. Sprößig. "On some constructive aspects of monogenic function theory in ℝ4". Mathematical Methods in the Applied Sciences 34, № 14 (2011): 1694–706. http://dx.doi.org/10.1002/mma.1474.

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7

Kuchinskaya, E. M., E. N. Suspitsyn, and M. M. Kostik. "Genetic aspects of the pathogenesis of systemic lupus erythematosus in children." Modern Rheumatology Journal 14, no. 1 (2020): 101–7. http://dx.doi.org/10.14412/1996-7012-2020-1-101-107.

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The paper presents data on the pathogenesis of systemic lupus erythematosus (SLE), and depicts various molecular mechanisms for the development of SLE and lupus-like syndromes. It describes groups of diseases, such as apoptotic defects; NETosis; interferonopathies; complement deficiency; autotolerance disorders associated with mutations in the RAG1/RAG2 genes; hereditary metabolic diseases (prolidase deficiency, deficiency of adenosine deaminase 2; lysinuric protein intolerance; and α-mannosidase deficiency). The table summarizes clinical data on most of the known lupus-like syndromes and thei

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Ballabio, E., A. Bersano, N. Bresolin, and L. Candelise. "Monogenic Vessel Diseases Related to Ischemic Stroke: A Clinical Approach." Journal of Cerebral Blood Flow & Metabolism 27, no. 10 (2007): 1649–62. http://dx.doi.org/10.1038/sj.jcbfm.9600520.

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The identification of stroke cases caused by monogenic disorders is important both for therapeutic decisions and genetic counselling, although they represent less than 1% of all stroke patients. The purpose of this review is to summarize genetic, pathological, and clinical features of single-gene disorders related to ischemic stroke. The following monogenic disorders are considered: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, cerebral autosomal-recessive arteriosclerosis with subcortical infarcts and leukoencephalopathy, hereditary endotheliopath

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9

Tesser, Alessandra, Alessia Pin, Elisabetta Mencaroni, Virginia Gulino, and Alberto Tommasini. "Vasculitis, Autoimmunity, and Cytokines: How the Immune System Can Harm the Brain." International Journal of Environmental Research and Public Health 18, no. 11 (2021): 5585. http://dx.doi.org/10.3390/ijerph18115585.

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More and more findings suggest that neurological disorders could have an immunopathological cause. Thus, immune-targeted therapies are increasingly proposed in neurology (even if often controversial), as anakinra, inhibiting IL-1 for febrile inflammatory illnesses, and JAK inhibitors for anti-interferons treatment. Precision medicine in neurology could be fostered by a better understanding of the disease machinery, to develop a rational use of immuno-modulators in clinical trials. In this review, we focus on monogenic disorders with neurological hyper-inflammation/autoimmunity as simplified “m

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10

Orlando, Francesca, Germana Nardini, and Daniele De Brasi. "Le malattie autoinfiammatorie: aspetti patogenetici e clinici (Prima parte)." QUADERNI ACP 29, no. 3 (2022): 128. http://dx.doi.org/10.53141/qacp.2022.128-132.

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Autoinflammatory diseases (AIDs) are a family of rare medical entities, characterized by sterile systemic inflammatory episodes caused by exaggerated activation of the innate immune system, for which the pathogenic role of autoantibodies, B or T cells is less relevant. During the past 20 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. Proteins encoded by these genes are involved in the regulatory pathways of inflammation and they are mostly expressed in cells of the innate immune system. Since symptoms can overla

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11

Souza, Paulo Victor Sgobbi de, Paulo de Lima Serrano, Igor Braga Farias, et al. "Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges." Genes 15, no. 3 (2024): 311. http://dx.doi.org/10.3390/genes15030311.

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Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and

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12

Golukhova, E. Z., O. I. Gromova, R. A. Shomahov, N. I. Bulaeva, and L. A. Bockeria. "Monogenec Arrhythmic Syndromes: From Molecular and Genetic Aspects to Bedside." Acta Naturae 8, no. 2 (2016): 62–74. http://dx.doi.org/10.32607/20758251-2016-8-2-62-74.

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The abrupt cessation of effective cardiac function that is generally due to heart rhythm disorders can cause sudden and unexpected death at any age and is referred to as a syndrome called sudden cardiac death (SCD). Annually, about 400,000 cases of SCD occur in the United States alone. Less than 5% of the resuscitation techniques are effective. The prevalence of SCD in a population rises with age according to the prevalence of coronary artery disease, which is the most common cause of sudden cardiac arrest. However, there is a peak in SCD incidence for the age below 5 years, which is equal to

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13

Meshkov, A. N., A. I. Ershova, A. V. Kiseleva, et al. "Genetic aspects of decreased low-density lipoprotein cholesterol values." Cardiovascular Therapy and Prevention 22, no. 12 (2024): 3846. http://dx.doi.org/10.15829/1728-8800-2023-3846.

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Aim. To study genetic causes of decreased low-density lipoprotein cholesterol (LDL-C) in Russian patients.Material and methods. The study included the following Epidemiology of Cardiovascular Diseases and their Risk Factors in Regions of Russian Federation (ESSE-RF) participants: individuals with LDL-C<5th percentile, taking into account sex and age (n=52), who underwent targeted sequencing of protein-coding regions of 6 genes (APOB, PCSK9, MTTP, ANGPTL3, SAR1B, APOC3) and determination of the genetic risk score (GRS) for hypercholesterolemia; and a representative sample of the Ivanovo regi

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14

Marklová, Eliška. "Genetic Aspects of Diabetes Mellitus." Acta Medica (Hradec Kralove, Czech Republic) 44, no. 1 (2001): 3–6. http://dx.doi.org/10.14712/18059694.2019.79.

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Practically all types of diabetes mellitus (DM) result from complex interactions of genetic and environmental factors. Multifactorial and polygenic Type 1 DM is strongly influenced by genes controlling the immune system, mainly HLA-DQ and DR. In addition to this, many other predisposition loci, interacting with each other, have some influence on susceptibility to DM. Heterogeneous Type 2 DM, accounting for about 85 % of all diabetic patients, is supposed to be induced by multiple genes defects involved in insulin action and/or insulin secretion. Other genetically influenced traits like obesity

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15

Tyrtova, Ludmila Viktorovna, Natalja Vladimirovna Parshina, and Kristina Vladimirovna Skobeleva. "Genetic and Epigenetic Aspects of Obessity and Metabolic Syndrom in Child." Pediatrician (St. Petersburg) 4, no. 2 (2013): 3–11. http://dx.doi.org/10.17816/ped423-11.

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In a review article analyzes the role of heredity in the occurrence of obesity and metabolic syndrome. Debut of hyperphagia and severe obesity from early childhood are typical for monogenic forms and syndromes. Many nonspecific candidate-genes in combination form a polygenic basis for the accumulation of excess body fat, especially under the influence of irrational diet and low physical activity. Examined the role of epigenetic factors in the individual genetic variants in fetus, predisposing to obesity and metabolic syndrome after birth. Discuss the possibilities of early prevention of obesit

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Krasnoborodko, Viktoriia, Seda Bashirova, Daria Remizova, Aleksandr Reger, and Daria Osipova. "Genetic markers of predisposition to monogenic and polygenic obesity." Vestnik of Saint Petersburg University. Medicine 19, no. 3 (2024): 218–33. https://doi.org/10.21638/spbu11.2024.303.

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Genetic markers of obesity play a crucial role in understanding the pathogenesis of this multifactorial disease, which remains one of the major public health challenges of the 21st century. In recent years, numerous genetic variants associated with obesity have been identified thanks to the development of genome-wide association studies (GWAS). Among the most studied genes are FTO, MC4R, TMEM18, NEGR1, and BDNF. Polymorphisms in these genes are linked to various aspects of appetite regulation, metabolism, and fat tissue accumulation. It is important to note that the integration of data from ge

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17

Prityko, A. G., N. V. Chebanenko, P. L. Sokolov, V. P. Zykov, O. V. Klimchuk, and I. V. Kanivets. "Genetic Aspects of Pathogenesis of Congenital Spastic Cerebral Paralysis." Acta Biomedica Scientifica 4, no. 3 (2019): 28–39. http://dx.doi.org/10.29413/abs.2019-4.3.4.

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Congenital spastic cerebral palsy (СР) is a large group of non-progressive disorders of the nervous system. The basis of the pathogenesis of these conditions is considered the impact of many factors. The clinical diversity of the disease and the syndromic principle of classification determine the existing uncertainties in the diagnosis of these diseases. The multifactorial nature of the underlying brain lesions is obvious and beyond doubt. The volume of information accumulated to date does not allow one to exclude the role and significance of the direct effect of acute asphyxiation in childbir

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18

Arning, Larissa. "The search for modifier genes in Huntington disease – Multifactorial aspects of a monogenic disorder." Molecular and Cellular Probes 30, no. 6 (2016): 404–9. http://dx.doi.org/10.1016/j.mcp.2016.06.006.

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19

Petchesi, Codruța Diana, Gabriela Ciavoi, Claudia Jurca, Romana Vulturar, and Marius Bembea. "Bioethical aspects in type I neurofibromatosis." Romanian Journal of Pediatrics 70, no. 3 (2021): 169–72. http://dx.doi.org/10.37897/rjp.2021.3.1.

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Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest are de novo cases. The clinical manifestations are multisystemic and are progressively installed, presenting inter- and intra-familial variability of clinical expression. The hereditary nature, impaired quality of life and lethal potential identify numerous and various ethical dilemmas in the diagnosis, monitoring and treatment of neurofibromatosis

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20

Zayed, Mohra, and Gamal Hassan. "Equivalent Base Expansions in the Space of Cliffordian Functions." Axioms 12, no. 6 (2023): 544. http://dx.doi.org/10.3390/axioms12060544.

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Intensive research efforts have been dedicated to the extension and development of essential aspects that resulted in the theory of one complex variable for higher-dimensional spaces. Clifford analysis was created several decades ago to provide an elegant and powerful generalization of complex analyses. In this paper, first, we derive a new base of special monogenic polynomials (SMPs) in Fréchet–Cliffordian modules, named the equivalent base, and examine its convergence properties for several cases according to certain conditions applied to related constituent bases. Subsequently, we character

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21

Pinchada, Wongtanate. "Genetic and Molecular Aspects of Ischemic Stroke." International Journal of Current Science Research and Review 07, no. 07 (2024): 4995–5006. https://doi.org/10.5281/zenodo.12736669.

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Abstract : Stroke remains a leading cause of disability and death worldwide, with significant public health implications. Ischemic stroke is classified into various subtypes based on etiology, including large-artery atherosclerosis, small-vessel occlusion, and cardioembolism. The middle cerebral artery is often the most affected. The concept of the ischemic core and penumbra is crucial in understanding stroke pathology, where the core suffers irreversible damage, and the penumbra is at high risk if reperfusion is not timely. Genetic predispositions play a significant role in ischemic stroke, w

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22

D’Amora, Marta, Alessandro Galgani, Maria Marchese, et al. "Zebrafish as an Innovative Tool for Epilepsy Modeling: State of the Art and Potential Future Directions." International Journal of Molecular Sciences 24, no. 9 (2023): 7702. http://dx.doi.org/10.3390/ijms24097702.

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This article discusses the potential of Zebrafish (ZF) (Danio Rerio), as a model for epilepsy research. Epilepsy is a neurological disorder affecting both children and adults, and many aspects of this disease are still poorly understood. In vivo and in vitro models derived from rodents are the most widely used for studying both epilepsy pathophysiology and novel drug treatments. However, researchers have recently obtained several valuable insights into these two fields of investigation by studying ZF. Despite the relatively simple brain structure of these animals, researchers can collect large

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23

Di Donato, Giulia, Debora Mariarita d’Angelo, Luciana Breda, and Francesco Chiarelli. "Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives." International Journal of Molecular Sciences 22, no. 12 (2021): 6360. http://dx.doi.org/10.3390/ijms22126360.

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Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic background, with mutations in single genes involved in inflammation. Therefore, they can derive from different pathogenic mechanisms at any level, such as dysregulated inflammasome-mediated production of cytokines, intracellular stress, defective regulatory pathways, altered protein folding, enhanced NF-kap

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24

Al-Malki, Sultan. "Monogenic Diabetes: Genotype, Clinical Phenotype, and Treatment: A Narrative Review." JOURNAL OF HEALTHCARE SCIENCES 04, no. 12 (2024): 756–71. https://doi.org/10.52533/johs.2024.41216.

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Monogenic Diabetes (MD) refers to a rare and newly identified type of diabetes caused by a defect in a single gene. This condition is marked by persistent hyperglycemia resulting from genetic defects passed down through families in various inheritance patterns, including Mendelian inheritance (dominant, recessive), or non-Mendelian inheritance (mitochondrial inheritance). Additionally, MD can also arise from new mutations that occur for the first time in an individual and are not inherited from either parent, known as de novo mutations. Monogenic forms of diabetes contribute to approximately 5

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Goryainova, A. V., P. V. Shumilov, N. Yu Kashirskaya, and S. Yu Semykin. "THE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTS." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 63, no. 5 (2018): 20–28. http://dx.doi.org/10.21508/1027-4065-2018-63-5-20-28.

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The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. It describes the history of the CFTR gene discovery, the further search for modifier genes to explain the variability of the clinical manifestations of cystic fibrosis. The review discusses problems of connective tissue dysplasia and somatic pathology, which is formed due to the connective tissue dysmorphogenesis in patients with cystic fibrosis; and also the article contains justification for the connection between the formation of severe fibrosis of the lungs and liver and the presence of clinical a

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Piras, Doloretta, Nicola Lepori, Gianfranca Cabiddu, and Antonello Pani. "How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside." Journal of Personalized Medicine 12, no. 2 (2022): 193. http://dx.doi.org/10.3390/jpm12020193.

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Chronic kidney disease (CKD) is considered a major global health problem with high socio-economic costs: the risk of CKD in individuals with an affected first degree relative has been found to be three times higher than in the general population. Genetic factors are known to be involved in CKD pathogenesis, both due to the possible presence of monogenic pathologies as causes of CKD, and to the role of numerous gene variants in determining susceptibility to the development of CKD. The genetic study of CKD patients can represent a useful tool in the hands of the clinician; not only in the diagno

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Соловьёва, Е. В., Л. П. Назаренко, Л. И. Минайчева, and А. В. Светлаков. "Preimplantation genetic diagnosis (testing) for monogenic disorders: indications and ethics." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 3() (March 29, 2019): 13–25. http://dx.doi.org/10.25557/2073-7998.2019.03.13-25.

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Преимплантационная генетическая диагностика (тестирование) (ПГД/ПГТ) моногенных заболеваний направлена преимущественно на предотвращение рождения ребенка с наследственным заболеванием посредством обследования эмбрионов до имплантации в лечебном цикле ЭКО (экстракорпорального оплодотворения). Строгим показанием для ПГД генной болезни служит высокий риск рождения ребенка с тяжелой формой многогенного заболевания при отсутствии противопоказаний и ограничений. С расширением показаний для ПГД и возможностей генетического тестирования возникают вопросы по нормативному регулированию и этической ответ

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Ouafidi, B., O. Wajih, F. Elmiski, et al. "SYNDROME DE MECKEL GRUBER: A PROPOS DUN CAS RARE." International Journal of Advanced Research 9, no. 06 (2021): 365–69. http://dx.doi.org/10.21474/ijar01/13023.

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Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This syndrome is incompatible with life. We report a case diagnosed on fetal ultrasound at a gestational age of 22 SA and 6 days, presenting the clinical triad of Meckel-Gruber syndrome. A medical termination of the pregnancy was indicated. From this rare case, and through a review of the literature, we will discuss the different clinical, ultrasound and prognostic aspects of this rare pathology.

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Deteșan, Oana, Lucia Mihaela Custură, Brigitta Irén Kovács, Reka Annamaria Schmiedt, and Mariana Cornelia Tilinca. "Current Perspectives in MODY Management—A Narrative Review." Timisoara Medical Journal 2021, no. 2 (2021): 1. http://dx.doi.org/10.35995/tmj20210204.

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Maturity-onset diabetes of the young (MODY) is associated with familially inherited monogenic diabetes. It is characterized by genetic mutations leading to pancreatic β-cell dysfunction and subsequent insulin production. Clinical features of MODY include young-onset hyperglycemia associated with a lack of beta cell autoimmunity or insulin resistance. Glucose-lowering agents are the main therapeutic options for MODY. In this review, we have outlined the particular aspects of the most common types of MODY in order to assist clinical practitioners in this field.

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30

Caso, Francesco, Donato Rigante, Antonio Vitale, et al. "Monogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues." International Journal of Rheumatology 2013 (2013): 1–15. http://dx.doi.org/10.1155/2013/513782.

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Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, familial cold urticaria syndrome, Muckle-Wells syndrome, CINCA syndrome, mevalonate kinase deficiency, NLRP12-associated autoinflammatory disorder, Blau syndrome, early-on

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Kireeva, Victoria Vladimirovna, Svetlana Aleksandrovna Lepekhova, Lyubov Nazirovna Mansurova, and Saryuna Chingisovna Dugarova. "EPIGENETIC AND MOLECULAR AND GENETIC ASPECTS OF OBESITY AS A RISK FACTOR OF CARDIOVASCULAR CATASTROPHES." EurasianUnionScientists 5, no. 7(76) (2020): 39–44. http://dx.doi.org/10.31618/esu.2413-9335.2020.5.76.926.

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The review provides current information of obesity in the pathogenesis of cardiovascular diseases the leading cause of death. Showing the genetic basis for the development of metabolic syndrome. The question of external influence on genes, mutations in which lead to the development of obesity is determined. The question of the possible role of exogenous destroyers in the development of metabolic syndrome is considered. The main genes involved in monogenic and polygenic variants of obesity are identified. The review shows that to prevent the development of metabolic syndrome, it is necessary to

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Whitfield, Amanda J., P. Hugh R. Barrett, Frank M. van Bockxmeer, and John R. Burnett. "Lipid Disorders and Mutations in the APOB Gene." Clinical Chemistry 50, no. 10 (2004): 1725–32. http://dx.doi.org/10.1373/clinchem.2004.038026.

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Abstract Background: Plasma lipoproteins are important determinants of atherosclerosis. Apolipoprotein (apo) B is a large, amphipathic glycoprotein that plays a central role in human lipoprotein metabolism. Two forms of apoB are produced from the APOB gene by a unique posttranscriptional editing process: apoB-48, which is required for chylomicron production in the small intestine, and apoB-100, required for VLDL production in the liver. In addition to being the essential structural component of VLDL, apoB-100 is the ligand for LDL-receptor-mediated endocytosis of LDL particles. Content: The st

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Panevin, Taras S., Evgeniy G. Zotkin, and Ekaterina A. Troshina. "Autoimmune polyendocrine syndrome in adults. Focus on rheumatological aspects of the problem: A review." Terapevticheskii arkhiv 95, no. 10 (2023): 881–87. http://dx.doi.org/10.26442/00403660.2023.10.202484.

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Autoimmune polyglandular syndromes (APS) are a heterogeneous group of clinical conditions characterized by functional impairment of multiple endocrine glands due to loss of central or peripheral immune tolerance. These syndromes are also often accompanied by autoimmune damage to non-endocrine organs. Taking into account the wide range of components and variants of the disease, APS is usually divided into a rare juvenile type (APS 1) and a more common adult type (APS 2–4). APS type 1 is caused by a monogenic mutation, while APS types 2–4 have a polygenic mode of inheritance. One subtype of adul

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Martins Junior, Carlos Roberto, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, et al. "Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1." Arquivos de Neuro-Psiquiatria 76, no. 8 (2018): 555–62. http://dx.doi.org/10.1590/0004-282x20180080.

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ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are st

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Penyaeva, Elena V. "Genetic aspects of Ebstein anomaly and related heart diseases." Annals of the Russian academy of medical sciences 76, no. 1 (2021): 67–74. http://dx.doi.org/10.15690/vramn1228.

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Ebstein anomaly is a congenital heart disease, which is characterized by the presence of atrialized portion of the right ventricle, formed as a result of displacement of the tricuspid valve leaflets into the right ventricle and their partial adherence to the underlying myocardium. Atrialized portion in the right ventricle occupies the space between the fibrous annulus of the right atrioventricular orifice and the functional annulus of tricuspid valve, which represents a zone of closure of free (non-adherent to the underlying myocardium) edges of its leaflets. Ebstein anomaly is very rarely iso

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Zhogova, O. V., N. V. Lagunova, S. V. Ivanovsky, S. O. Salugina, and M. M. Kostik. "Familial Mediterranean fever in the Republic of Crimea: a description of a series of cases with an analysis of historical and ethnographic aspects of the disease." Rheumatology Science and Practice 57, no. 3 (2019): 339–44. http://dx.doi.org/10.14412/1995-4484-2019-339-344.

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Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease with a high prevalence in some countries. The carriers of the MEFV gene causing FML are Jews, Armenians, Turks, Arabs and other nationalities of Mediterranean origin. Crimean Tatars are one of the nations that inhabit the Crimean peninsula, who do not formally belong to Mediterranean populations. Until 2016, there were no data on FMF in Crimea among the Crimean Tatar population; however, 15 new cases of FMF have been diagnosed in the Republic of Crimea in the past 2 years. The paper provides data on FML patients and inf

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Müllenbach, Roman, Susanne N. Weber, and Frank Lammert. "Nuclear Receptor Variants in Liver Disease." Journal of Lipids 2012 (2012): 1–12. http://dx.doi.org/10.1155/2012/934707.

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This review aims to provide a snapshot of the actual state of knowledge on genetic variants of nuclear receptors (NR) involved in regulating important aspects of liver metabolism. It recapitulates recent evidence for the application of NR in genetic diagnosis of monogenic (“Mendelian”) liver disease and their use in clinical diagnosis. Genetic analysis of multifactorial liver diseases such as viral hepatitis or fatty liver disease identifies key players in disease predisposition and progression. Evidence from these analyses points towards a role of NR polymorphisms in common diseases, linking

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Baz, Baz, Jean-Pierre Riveline, and Jean-François Gautier. "ENDOCRINOLOGY OF PREGNANCY: Gestational diabetes mellitus: definition, aetiological and clinical aspects." European Journal of Endocrinology 174, no. 2 (2016): R43—R51. http://dx.doi.org/10.1530/eje-15-0378.

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Gestational diabetes (GDM) is defined as a glucose intolerance resulting in hyperglycaemia of variable severity with onset during pregnancy. This review aims to revisit the pathogenesis and aetiology of GDM in order to better understand its clinical presentation and outcomes. During normal pregnancy, insulin sensitivity declines with advancing gestation. These modifications are due to placental factors, progesterone and estrogen. In a physiological situation, a compensatory increase in insulin secretion maintains a normal glucose homeostasis. GDM occurs if pancreatic β-cells are unable to face

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Berta, Eszter, Noémi Zsíros, Miklós Bodor, et al. "Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia." Genes 13, no. 7 (2022): 1158. http://dx.doi.org/10.3390/genes13071158.

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Familial hypercholesterolemia (FH) is the most common monogenic metabolic disorder characterized by considerably elevated low-density lipoprotein cholesterol (LDL-C) levels leading to enhanced atherogenesis, early cardiovascular disease (CVD), and premature death. However, the wide phenotypic heterogeneity in FH makes the cardiovascular risk prediction challenging in clinical practice to determine optimal therapeutic strategy. Beyond the lifetime LDL-C vascular accumulation, other genetic and non-genetic risk factors might exacerbate CVD development. Besides the most frequent variants of three

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Shcherbakova, Olga V. "Primary immunodeficiency disorders imitating inflammatory bowel diseases: clinical aspects and problems of the differential diagnosis." Almanac of Clinical Medicine 51, no. 8 (2024): 456–68. http://dx.doi.org/10.18786/2072-0505-2023-51-049.

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From the beginning of 2000s, there has been a significant increase in the incidence of inflammatory bowel diseases (IBD) and primary immunodeficiency disorders (PIDs) in adults and children in many countries around the world. The aim of the review is to summarize the state-of-the-art on diverse clinical types of PIDs with gastrointestinal manifestations and their differential diagnostic algorithms. Atypical PIDs with “blunted” clinical manifestations are challenging for the timely diagnosis. Some types of PIDs with gastrointestinal involvement are also difficult to differentiate with cla

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Zhuravlev, N. M., N. A. Shnayder, and R. F. Nasyrova. "The role of DNA-profiling in predicting anticonvulsant-induced QT prolongation diseases based on pharmacogenetic aspects." Pharmacogenetics and Pharmacogenomics, no. 1 (February 27, 2023): 37–52. http://dx.doi.org/10.37489/2588-0527-2022-1-37-52.

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Anticonvulsants or antiepileptic drugs (AEDs) are widely used for various neurological and psychiatric diseases and are often prescribed for a long period. In this regard, the issue of their safety profile is acute, including risk assessment for the development of life-threatening conditions and adverse drug reactions (ADRs). From the point of view of personalized medicine, it is important to develop an interdisciplinary approach to the development of a new strategy for a personalized approach to predicting AED-induced prolongation of the QT interval as one of the most unfavorable prognostic c

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Carbone, Annalucia, Pamela Vitullo, Sante Di Gioia, Stefano Castellani, and Massimo Conese. "A New Frontier in Cystic Fibrosis Pathophysiology: How and When Clock Genes Can Affect the Inflammatory/Immune Response in a Genetic Disease Model." Current Issues in Molecular Biology 46, no. 9 (2024): 10396–410. http://dx.doi.org/10.3390/cimb46090618.

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Cystic fibrosis (CF) is a monogenic syndrome caused by variants in the CF Transmembrane Conductance Regulator (CFTR) gene, affecting various organ and systems, in particular the lung, pancreas, sweat glands, liver, gastrointestinal tract, vas deferens, and vascular system. While for some organs, e.g., the pancreas, a strict genotype-phenotype occurs, others, such as the lung, display a different pathophysiologic outcome in the presence of the same mutational asset, arguing for genetic and environmental modifiers influencing severity and clinical trajectory. CFTR variants trigger a pathophysiol

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Revazyan, K. Z., A. N. Meshkov, A. I. Ershova, O. V. Sivakova, and O. M. Drapkina. "Psychosocial, ethical, legal and economic aspects of genetic screening for the carriage of variants that cause the development of monogenic recessive diseases." Profilakticheskaya meditsina 24, no. 2 (2021): 102. http://dx.doi.org/10.17116/profmed202124021102.

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Timasheva, Ya R., Zh R. Balkhiyarova, and O. V. Kochetova. "Current state of the obesity research: genetic aspects, the role of microbiome, and susceptibility to COVID-19." Problems of Endocrinology 67, no. 4 (2021): 20–35. http://dx.doi.org/10.14341/probl12775.

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Obesity affects over 700 million people worldwide and its prevalence keeps growing steadily. The problem is particularly relevant due to the increased risk of COVID-19 complications and mortality in obese patients. Obesity prevalence increase is often associated with the influence of environmental and behavioural factors, leading to stigmatization of people with obesity due to beliefs that their problems are caused by poor lifestyle choices. However, hereditary predisposition to obesity has been established, likely polygenic in nature. Morbid obesity can result from rare mutations having a sig

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Schmitt, Lauren, Rebecca Shaffer, David Hessl, and Craig Erickson. "Executive Function in Fragile X Syndrome: A Systematic Review." Brain Sciences 9, no. 1 (2019): 15. http://dx.doi.org/10.3390/brainsci9010015.

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Executive function (EF) supports goal-directed behavior and includes key aspects such as working memory, inhibitory control, cognitive flexibility, attention, processing speed, and planning. Fragile X syndrome (FXS) is the leading inherited monogenic cause of intellectual disability and is phenotypically characterized by EF deficits beyond what is expected given general cognitive impairments. Yet, a systematic review of behavioral studies using performance-based measures is needed to provide a summary of EF deficits across domains in males and females with FXS, discuss clinical and biological

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Chaturvedi, Purnima, Rohit Kumar, and Sapna Ratan Shah. "Bio-Mechanical and Bio-Rheological Aspects of Sickle Red Cells in Microcirculation: A Mathematical Modelling Approach." Fluids 6, no. 9 (2021): 322. http://dx.doi.org/10.3390/fluids6090322.

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Sickle cell disease (SCD) is an inherited monogenic disease characterized by distorted red blood cells that causes vaso-occlusion and vasculopathy. Presently, electrophoresis of haemoglobin and genotyping are used as routine tests for diagnosis of the SCD. These techniques require specialized laboratories and are expensive. The low-cost microfluidics-based diagnostic tool holds a great attention for screening of red blood cell (RBC) deformability. In the present study, lubrication theory has been applied in order to develop a biomechanical model of microcirculation with altered rheological pro

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Guja, Cristian, Loreta Guja, and Constantin Ionescu-Tîrgovişte. "Neonatal Diabetes – From Gene Discovery yo Clinical Practice Changes." Romanian Journal of Diabetes Nutrition and Metabolic Diseases 20, no. 3 (2013): 343–52. http://dx.doi.org/10.2478/rjdnmd-2013-0034.

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Abstract Diabetes mellitus is one of the most common chronic diseases but also one of the most heterogeneous. Apart the common phenotypes of type 1 and type 2 diabetes, around 1-2% of all cases arise from a single gene mutation and are known as monogenic diabetes. Diabetes diagnosed within the first 6 months of life is known as neonatal diabetes and has been extensively studied during the last two decades. Unraveling the genetic cause and molecular mechanism of this rare diabetes phenotype led to a dramatic change in the treatment of these children who often can be switched from insulin to sul

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Pedro-Botet, Juan, Elisenda Climent, and David Benaiges. "Familial Hypercholesterolemia: Do HDL Play a Role?" Biomedicines 9, no. 7 (2021): 810. http://dx.doi.org/10.3390/biomedicines9070810.

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Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime LDL cholesterol vascular accumulation, other classical risk factors are involved in the high cardiovascular risk of HeFH. Among other lipoprotein disturbances, alterations in the phenotype and functionality of high-density lipoproteins (HDL) have been described in HeFH patients, contributing to the

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Grumett, David. "Cult books revisited: Pierre Teilhard de Chardin’s The Phenomenon of Man." Theology 122, no. 6 (2019): 404–11. http://dx.doi.org/10.1177/0040571x19872102.

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Teilhard’s The Phenomenon of Man was posthumously published and has been retranslated as The Human Phenomenon. It presents humankind in unity with an evolving world, locates parts in relation to the whole, and balances the perspectives of the outside and the inside. Key aspects include the tangential–radial energy distinction, axes of evolution, the noosphere and personalization. Although Teilhard regarded it as a scientific work, he leaves space for the theological notions of ensoulment, monogenism and the supernatural, and derives his hypothesis that Omega is a point of evolutionary converge

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Sgobbi de Souza, Paulo Victor, Bruno de Mattos Lombardi Badia, Eduardo Augusto Gonçalves, Igor Braga Farias, Wladimir Bocca Vieira de Rezende Pinto, and Acary Souza Bulle Oliveira. "Hereditary inclusion body myopathy: a clinical and genetic review." Revista Neurociências 28 (July 24, 2020): 1–23. http://dx.doi.org/10.34024/rnc.2020.v28.10569.

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Introduction. Inclusion body myositis represents the most common acquired myopathy in clinical practice in patients over 50 years old. Despite classical approach to this myopathy as an inflammatory disorder, a muscle degenerative disorder is now considered the main mechanism linked to these vacuolar myopathies. Hereditary presentations, although quite rare, represent an expanding and underrecognized group in clinical practice. Objective. perform a structured review of the current literature regarding hereditary inclusion body myopathies. Method. review of U.S. NLM PubMed and MEDLINE database o

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