scholarly journals Molecular genetic aspects of complicated myopia pathogenesis

2018 ◽  
Vol 11 (3) ◽  
pp. 48-56
Author(s):  
Alexey N. Kulikov ◽  
Sergey V. Churashov ◽  
Vladimir A. Reytuzov
Keyword(s):  
Refractive Error ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Low Frequency ◽  
Optical Power ◽  
Refractive Errors ◽  
Progressive Myopia ◽  
Remodeling Of Extracellular Matrix ◽  
The Impact ◽  
Modest Effect

Complicated myopia (CM) is not only a refractive error but a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and the axial length that causes the image to be focused off the retina. Genetic factors in progressive myopia play a key role in determining the impact of ecologic factors on refraction development. The majority of genetic variants underlying CM are characterized by modest effect and/or low frequency, which makes them difficult to identify using classic genetic approaches. The genes identified to date account for less than 10% of all myopia cases, suggesting the existence of a large number of yet unidentified low-frequency and/or small-effect variants, which underlie the majority of myopia cases. Genome analysis revealed dozens of loci associated with non-syndromic myopia, and showed that refractive errors are associated with mutations in genes that are involved in the growth and development of the eye by regulating ion transport, neurotransmission, remodeling of extracellular matrix of the retina and other ocular structures. Genetic study of refractive error provides a unique opportunity to detect key molecules that may play important roles in the development of refractive error. Identifying the molecular basis of refractive error helps to understand mechanisms, and subsequently to design rational therapeutic intervention for this condition.

Origins of Refractive Errors: Environmental and Genetic Factors

2019 ◽  
Vol 5 (1) ◽  
pp. 47-72 ◽  
Author(s):  
Elise N. Harb ◽  
Christine F. Wildsoet
Keyword(s):  
Refractive Error ◽  
Disease Burden ◽  
Genetic Factors ◽  
Optical Power ◽  
Genetic Influences ◽  
Refractive Errors ◽  
Scientific Interest ◽  
Blurred Vision ◽  
Eye Growth ◽  
Genetic And Environmental Factors

Refractive errors are the product of a mismatch between the axial length of the eye and its optical power, creating blurred vision. Uncorrected refractive errors are the second leading cause of worldwide blindness. One refractive error currently attracting significant scientific interest is myopia, mostly owing to the recent rise in its prevalence worldwide and associated ocular disease burden. This increase in myopia prevalence has also been rapid, suggesting environmental influences in addition to any genetic influences on eye growth. This review defines refractive errors, describes their prevalence, and presents evidence for the influence of genetic and environmental factors related to refractive error development.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

Clinical application of polymorphic variants of the genes ESR1 and CYP2D6*4 in patients with breast and endometrial cancer

2017 ◽  
pp. 132-138
Author(s):  
O.V. Paliychuk ◽  
◽  
L.Z. Polishchuk ◽  
Z.I. Rossokha ◽  
◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Hormone Therapy ◽  
Molecular Genetic ◽  
Cancer Syndrome ◽  
Genetic Characteristics ◽  
Multiple Tumors ◽  
Receptor Status ◽  
Genetic Examination ◽  
The Impact

The objective: determining gene polymorphism features ERS1, CYP2D6 in patients with breast cancer (RHZ) and endometrial cancer (EC) and the impact assessment studied genetic characteristics compared to receptor status (immunohistochemical determination of expression levels of ER, PR) tumors and the results of the treatment. Patients and methods. article presents the results of complex clinical, morphological, clinical-genealogical, and molecular-genetic examination of 28 females: 19 patients with breast cancer (BC), 9 patients with endometrial cancer (EC), including 5 patients with primary-multiple tumors (PMT) with and without tumor pathology aggregation in families. Results. The It was determined that in patients’ families malignant tumors of breast, uterine body and/or ovaries prevail that corresponds to Lynch type II syndrome (family cancer syndrome). Molecular-genetic examination of genomic DNA of peripheral blood and histological sections for the presence of SNPs of ESR and CYP2D6*4 genes comparing with the results of immunohistochemical study of tumors for receptors ER and PR status have not found associations between these characteristics; although among EC patients the occurrence of genotypes 397ТТ and 351АА was significantly higher comparing with BC patients (55.55% and 10.5% for genotype 397ТТ,and 15.8% for genotype 351АА, respectively). At the same time the patients with BC and primary-multiple tumors (PMT) of female reproductive system organs (FRSO) that carried mutations in BRCA1 in all the cases demonstrated positive ER and PR receptor status and adverse combinations of polymorphous variants of the genes ESR1 (397СС, 397ТС) and CYP2D6*4 (1846G, 1846GA), suggesting combined effect of these factors on the development of malignant neoplasias of FRSO in families with positive family cancer history. In BC patients, receiving standard hormone therapy with tamoxifen, those, who had genotype 1846GG of the gene CYP2D6*4, in 3 patients (15.8%) of 19 (100%) patients disease recurrence was diagnosed. Conclusion. The obtained results allow clinical use of the assessment of polymorphism frequency of the genes ESR1 and CYP2D6*4 for selection of individual hormone therapy regimens schemes for BC patients, to increase efficacy of dispensary observation after finishing of special therapy for such patients, and also personalization of complex and combined treatment regimens. Key words: breast cancer, endometrial cancer, family cancer syndrome, single nucleotide polymorphisms (SNPs) of the genes ESR1, CYP2D6*4.

Genetic testing for autistic spectrum disorders

2020 ◽  
pp. 78-79
Author(s):  
Е.А. Померанцева ◽  
А.А. Исаев ◽  
А.П. Есакова ◽  
И.В. Поволоцкая ◽  
Е.В. Денисенкова ◽  
...  
Keyword(s):  
Genetic Testing ◽  
American Academy ◽  
Autistic Spectrum Disorder ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Autistic Spectrum Disorders ◽  
Autistic Spectrum ◽  
American Academy Of Pediatrics ◽  
Spectrum Disorders ◽  
Testing Algorithm

Согласно рекомендациям Американской академии педиатрии при постановке диагноза аутизм, следует направить семью на консультацию генетика и генетическое обследование. Однако оптимальный подход к алгоритму генетического обследования при выявлении расстройства аутистического спектра еще предстоит разработать. В рамках исследования было проведено сравнение выявляемости генетических факторов аутизма различными молекулярно-генетическими тестами. According to American Academy of Pediatrics recent guidelines, each family with a child diagnosed with autistic spectrum disorder should be reffered to a medical geneticist and offered genetic tests. However, an optimal genetic testing algorithm has yet to be developed. This study was conducted to compare abilities of different molecular-genetic methods to detect genetic factors of autistic spectrum disorders.

Epigenetic factors and molecular markers of the risk of early pregnancy losses

GYNECOLOGY ◽  
2019 ◽  
Vol 21 (3) ◽  
pp. 9-16
Author(s):  
Nataly I Frolova ◽  
Tatiana E Belokrinitskaya
Keyword(s):  
Early Pregnancy ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Pregnancy Complication ◽  
Common Complication ◽  
Epigenetic Factors ◽  
Genetic Determination ◽  
Periconceptional Period ◽  
Combined Impact

Background. Miscarriage is a common complication in early pregnancy. Current studies have shown a higher prevalence of miscarriage, ranging from 10 to 20%. The review is devoted to modern concepts of etiology and pathogenesis of early pregnancy losses. Aim. Assess the role of epigenetic factors and molecular-genetic markers in the pathogenesis and prediction of early pregnancy losses Materials and methods. In order to write this review domestic and foreign publications were searched in Russian and international search systems (PubMed, eLibrary, etc.) for the last 10-15 years. Relevant articles from the peer-reviewed literature and clinical practice guidelines were included. Results. Many recent studies have proved the contribution of various epigenetic factors to the pathogenesis of spontaneous miscarriages, and the molecular-genetic determination such kinds of pregnancy complication has been confirmed. Conclusion. The miscarriage in early gestation is driven by combined impact of epigenetic and molecular-genetic factors, as well as the presence of intergenic interactions. It is may lead to deterioration of physiological functions, and maternal pathologenic pathways could be changed as during her periconceptional period as so during the pregnancy.

USING FIELD DATA FOR THE EVALUATION OF THE IMPACT OF ULTRA-LOW FREQUENCY MOTIONS ON THE FATIGUE OF MOORING LINES

2019 ◽  
Author(s):  
Guilherme Borzacchiello ◽  
Carl Albrecht ◽  
Fabricio N Correa ◽  
Breno Jacob ◽  
Guilherme da Silva Leal
Keyword(s):  
Field Data ◽  
Low Frequency ◽  
Mooring Lines ◽  
The Impact

scholarly journals Epidemiological Findings of Refractive Errors and Amblyopia among the Schoolchildren in Hatta Region of the United Arab Emirates

2021 ◽  
pp. 1-7
Author(s):  
Salam Chettian Kandi ◽  
Hayat Ahmad Khan
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
United Arab Emirates ◽  
Refractive Error ◽  
Screening Program ◽  
Low Vision ◽  
Refractive Errors ◽  
Vision Screening ◽  
Screening Programs ◽  
School Based

<b><i>Introduction:</i></b> Uncorrected refractive errors and amblyopia pose a major problem affecting schoolchildren. We had previously observed that many schoolchildren in the Hatta region presented to the ophthalmology clinic with uncorrected refractive errors and amblyopia, which led us to undertake this research. As per the WHO, the term “visual impairment” can be “low vision” or “blindness.” Based on the presenting vision, “low vision” is defined for children who have vision of &#x3c;6/18 to 3/60 or having visual field loss to &#x3c;20° in the better-seeing eye. Children defined to have “blindness” have presenting vision of &#x3c;3/60 or corresponding visual field of &#x3c;10°. <b><i>Purpose:</i></b> To estimate the magnitude of uncorrected refractive errors and amblyopia among the schoolchildren aged 6–19 years and to assess the efficacy of school-based refractive error screening programs in the Hatta region of the United Arab Emirates. <b><i>Methods:</i></b> An epidemiological, cross-sectional, descriptive study was conducted on the entire student population studying in the government schools of the region. Those who failed the Snellen visual acuity chart test and those who were wearing spectacles were evaluated comprehensively by the researcher in the Department of Ophthalmology of the Hatta Hospital. Data were entered in the Refractive Error Study in School Children (RESC) eye examination form recommended by the WHO, and were later transferred to Excel sheets and analyzed by SPSS. <b><i>Results:</i></b> 1,591 students were screened and evaluated from the end of 2016 to mid-2017. About 21.37% (<i>n</i> = 340) had impaired vision with 20.9% (<i>n</i> = 333) refractive errors, of which 58% were uncorrected. Among the refractive error group, 19% (64 subjects) had amblyopia (4% of total students). The incidence of low vision was 9.5% and blindness was 0.38%. Low vision was found to be 9.5% and blindness 0.38%, taking in to account presenting visual acuity rather than best-corrected visual acuity for defining low vision and blindness. <b><i>Conclusion:</i></b> A significant number of students were detected to have uncorrected refractive errors among the vision impaired group (59%, <i>n</i> = 197) despite a school-based vision screening program in place. Seventy-eight percent of the amblyopia cases (<i>n</i> = 50) were found to be in the 11–19 years age group. Noncompliance with optical corrections was the reason for the high number of cases. A rigorous vision screening program and refractive services, complimented with awareness among parents and teachers, are recommended.

scholarly journals Evaluation of P-Band SAR Tomography for Mapping Tropical Forest Vertical Backscatter and Tree Height

2021 ◽  
Vol 13 (8) ◽  
pp. 1485
Author(s):  
Naveen Ramachandran ◽  
Sassan Saatchi ◽  
Stefano Tebaldini ◽  
Mauro Mariotti d’Alessandro ◽  
Onkar Dikshit
Keyword(s):  
Tropical Forest ◽  
Vertical Profile ◽  
Mean Squared Error ◽  
Low Frequency ◽  
Tree Height ◽  
Canopy Layer ◽  
Local Maxima ◽  
Slope Correction ◽  
Compensation Approach ◽  
The Impact

Low-frequency tomographic synthetic aperture radar (TomoSAR) techniques provide an opportunity for quantifying the dynamics of dense tropical forest vertical structures. Here, we compare the performance of different TomoSAR processing, Back-projection (BP), Capon beamforming (CB), and MUltiple SIgnal Classification (MUSIC), and compensation techniques for estimating forest height (FH) and forest vertical profile from the backscattered echoes. The study also examines how polarimetric measurements in linear, compact, hybrid, and dual circular modes influence parameter estimation. The tomographic analysis was carried out using P-band data acquired over the Paracou study site in French Guiana, and the quantitative evaluation was performed using LiDAR-based canopy height measurements taken during the 2009 TropiSAR campaign. Our results show that the relative root mean squared error (RMSE) of height was less than 10%, with negligible systematic errors across the range, with Capon and MUSIC performing better for height estimates. Radiometric compensation, such as slope correction, does not improve tree height estimation. Further, we compare and analyze the impact of the compensation approach on forest vertical profiles and tomographic metrics and the integrated backscattered power. It is observed that radiometric compensation increases the backscatter values of the vertical profile with a slight shift in local maxima of the canopy layer for both the Capon and the MUSIC estimators. Our results suggest that applying the proper processing and compensation techniques on P-band TomoSAR observations from space will allow the monitoring of forest vertical structure and biomass dynamics.

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