16 research outputs found
Genotype and phenotype correlation of patients diagnosed of osteogenesis imperfecta
No full textOsteogenezis imperfekta (Oİ), artmış kemik frajilitesi, düşük kemik kitlesi, tekrarlayan kırık ve deformitelerle karakterize, kemik dokusunun sık görülen kalıtsal bağ dokusu hastalığıdır. Bu çalışmada, 2016-2020 yılları arasında Bursa Uludağ Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı polikliniğine başvuran, Oİ ön tanısı alan 54 olgu kullanıldı. Tanı amaçlı yapılan yeni nesil dizileme (YND) sonucunda genlerde saptanan varyantlar veritabanları kullanılarak olguların klinik özellikleri ile birlikte retrospektif olarak değerlendirildi. Olguların 17’si erişkin, 34’ü çocuk ve 3’ü fetüstü. 54 olguya klinik sınıflandırma yapıldığında 24 olgu Tip I, 3 olgu Tip II, 16 olgu Tip III, 9 olgu Tip IV olarak değerlendirildi. Olguların 30’unda mavi sklera, 16’sında skolyoz, 32’sinde çoklu kırığa bağlı ekstremite deformiteleri, 27’sinde osteoporoz, 19’unda osteopeni, 38’inde boy kısalığı, 7’sinde Dİ, 1’inde işitme kaybı görüldü. Olguların 19’unda COL1A1 geninde 17, 10’unda COL1A2 geninde 10, 4’ünde LEPRE1/P3H1 geninde 5, 3’ünde FKBP10 geninde 3, 2’sinde SERPINH1 geninde 3, 1’inde IFITM5 geninde 1, 1’inde PLS3 geninde 1, 1’inde NBAS geninde 2 varyant tespit edildi. Veri analizi yapılan 54 olgunun 41’inde, 18 yeni varyant olmak üzere toplam 39 varyant saptandı. Varyant saptanmayan 13 olguya tüm ekzom dizi analizi yapılması planlandı. Çalışmamızda Oİ’nin moleküler tanısında panel testinin YND tekniği ile çalışılmasının etkinliği, genotip-fenotip korelasyonu, genetik danışma ve preimplantasyon/prenatal tanının önemi vurgulandı.Osteogenesis imperfecta (OI) is the most common inherited connective tissue disease of the bone, characterized by increased bone fragility, low bone mass, recurrent fractures and deformities. In this study, 54 patients who were admitted to the outpatient clinic of Bursa Uludağ University, Department of Medical Genetics between 2016-2020 and prediagnosed as OI were used. The variants detected in the genes as a result of rouitine next generation sequencing (NSD) diagnostic tests were evaluated retrospectively with the clinical data of the cases. 17 of the cases were adult, 34 were children and 3 were fetuses. 24 cases were evaluated as Type I, 3 cases as Type II, 16 cases as Type III, and 9 cases as Type IV. Blue sclera in 30, scoliosis in 16, extremity deformities due to multiple fractures in 32, osteoporosis in 27, osteopenia in 19, short stature in 38, DI in 7, and hearing loss in 1 case were seen. 17 variants in COL1A1 In nineteen caseses 10 variants in COL1A2 ; in ten cas, 5 variants in LEPRE1 / P3H1 in four cases, 3 variants in FKBP10 in three cases, 3 variants in SERPINH1 in two cases, 1 variant in IFITM5 , 1 variant in PLS3 and 2 variants in the NBAS gene in three cases were detected. A total of 39 variants were detected on 41 cases. 22 of these variants were novel. In our study, the effectiveness of the NGS panel test in the molecular diagnosis of OI, genotype-phenotype correlation, genetic counseling and preimplantation/prenatal diagnosis were emphasized
yPsychomotor delay in a child with Achondroplasia
No full textBu çalışma, 16-19, Haziran 2018 tarihlerinde Milan[İtalya]’da düzenlenen 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) Kongresi‘nde bildiri olarak sunulmuştur.European Soc Human Gene
The development of a fuzzy logic system using MATLAB for early detection of hereditary cancer in BRCA1/2 negative cases
No full textThe purpose of our study is to expedite cancer diagnosis through the development of software for rapid detection of hereditary breast cancer (BC) with negative BRCA1/2 on MATLAB, utilizing a fuzzy logic system with several variants of genes associated with BC. This system serves as a clinical decision-support tool, assisting in early classification and interpretation of genetic variants by combining clinical and genetic data. Clinical data were obtained from Erciyes University Faculty of Medicine Department of Medical Genetics and Uludağ University Faculty of Medicine Department of Medical Genetics. 488 individuals were studied. Only 90 of them were relevant to our investigation since their BRCA1/2 genes did not exhibit notable genetic mutations. We examined 16 distinct breast cancer risk factors and focused on mutations related to 18 hereditary BC genes. The collected data were integrated into the developed system, and various membership functions were given varying degrees of possibility, ranging from 0 to 1, depending on their participation in input clusters. After the system was trained on 90 cases and validated on six independent patients, its accuracy was assessed, yielding reliable results. Following the training phase, outcomes revealed the presence of two pathogenic variants at 0.92 (92%), two benign variants at 0.25 (25%), and two variants of unknown significance at 0.5 (50%). Given the high incidence of breast cancer, early prediction is paramount. Despite the emergence of fuzzy logic systems in medical applications, limited research akin to our study exists. The establishment of this artificial intelligence software holds promise for advancing the early detection of BC in future clinical applications
Genotype and phenotype correlation of patients with osteogenesis imperfecta
No full textOsteogenesis imperfecta (OI) is the most common inherited connective tissue disease of the bone, characterized by recurrent fractures and deformities. In patients displaying the OI phenotype, genotype- phenotype correlation is used to screen multiple genes swiftly, identify new variants, and distinguish between differential diagnoses and mild subtypes. This study evaluated variants identified fi ed through next- generation sequencing in 58 patients with clinical characteristics indicative of OI. The cohort included 18 adults, 37 children, and 3 fetuses. Clinical classification fi cation revealed 25 patients as OI type I, three patients as OI type II, 18 as OI type III, and 10 as OI type IV. Fifteen variants in COL1A1 were detected in 19 patients, 9 variants in COL1A2 (n n = 19), 5 variants in LEPRE1/P3H1 (n n = 7), 3 variants in FKBP10 (n n = 4), 3 variants in SERPINH1 (n n = 2), 1 variant in IFITM5 (n n = 1), and 1 variant in PLS3 (n n = 1). In total, 37 variants (18 pathogenic, 14 likely pathogenic, and 5 variants of uncertain significance), fi cance), including 16 novel variants, were identified fi ed in 43 (37 probands, 6 family members) of the 58 patients analyzed. This study highlights the efficacy fi cacy of panel testing in the molecular diagnosis of OI, the significance fi cance of the next-generation sequencing technique, and the importance of genotype-phenotype correlation
<i>BRCA</i> Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models
No full textArtificial intelligence provides modelling on machines by simulating the human brain using learning and decision-making abilities. Early diagnosis is highly effective in reducing mortality in cancer. This study aimed to combine cancer-associated risk factors including genetic variations and design an artificial intelligence system for risk assessment. Data from a total of 268 breast cancer patients have been analysed for 16 different risk factors including genetic variant classifications. In total, 61 BRCA1, 128 BRCA2 and 11 both BRCA1 and BRCA2 genes associated breast cancer patients' data were used to train the system using Mamdani's Fuzzy Inference Method and Feed-Forward Neural Network Method as the model softwares on MATLAB. Sixteen different tests were performed on twelve different subjects who had not been introduced to the system before. The rates for neural network were 99.9% for training success, 99.6% for validation success and 99.7% for test success. Despite neural network's overall success was slightly higher than fuzzy logic accuracy, the results from developed systems were similar (99.9% and 95.5%, respectively). The developed models make predictions from a wider perspective using more risk factors including genetic variation data compared with similar studies in the literature. Overall, this artificial intelligence models present promising results for BRCA variations' risk assessment in breast cancers as well as a unique tool for personalized medicine software
THE ROLE OF THE STOCK MARKET IN THE MOBILIZATION OF LONG-TERM FINANCIAL RESOURCES
No full textThe main purpose of the research is to define mobilization of long-term financial resources in the stock market, to analyse the current situation and give some suggestions for improvement of investment. The author tries to research the impact of investment on the stock market because everyone knows long-term financial resources are very significant for the market and affect economic growth. The paper examines the current state of investment activity in the stock market in our republic and around the world, as well as the impact on the economy of this activity is investigated. The author investigates the impact of investment activity in the stock market on the economy and ways of correct use of investment activity. Indeed, investment is a long-term investment in various sectors of the economy for making profit. Investment – consists of financial means put into objects of entrepreneurship and other types of activity, as well as material and intellectual resources for the purpose of earning (profit) or social benefits. Despite its popularity and presence in the news, the stock market is just one of many potential places to invest your money. Investing in stocks is often risky, which draws attention to the huge gains and losses of some investors. If you manage the risks, you can take advantage of the stock market to secure your financial position and earn money
Lysinuric protein intolerance and HOIP deficiency in a boy: SLCA7A and RNF31 gene disruptions
No full textBu çalışma, 26-28, Nisan 2018 tarihlerinde Athens[Yunanistan]’da düzenlenen European Biotechnology Congress Kongresi‘nde bildiri olarak sunulmuştur
Lysinuric protein intolerance and HOIP deficiency in a boy: SLCA7A and RNF31 gene disruptions
No full textEuropean Biotechnology Congress -- APR 26-28, 2018 -- Athens, GREECE[Abstract Not Available
Ailesel Akdeniz Ateşi Hastalarında MEFV Gen Mutasyonunun Sıklığı ve Dağılımı: Tek Merkez Deneyimi
No full textDiagnostic efficiency of clinical exome solution panel in patients with hearing loss/hereditary deafness by using next generation sequencing
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