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Tytuł:
Adrenocortical carcinoma in the face of Li-Fraumeni syndrome
Autorzy:
Maroszczuk, Tomasz
Smuniewska, Zuzanna
Kapała, Jan
Golon, Krystian
Powiązania:
https://bibliotekanauki.pl/articles/22792551.pdf
Data publikacji:
2023-09-01
Wydawca:
Medical Education
Tematy:
adrenocortical carcinoma
li-Fraumeni syndrome
TP53 mutation
Opis:
Adrenocortical carcinoma (ACC) is a rare malignancy with a dismal prognosis. ACCs are caused by a cumulation of sporadic mutations, however, some inherited mutations may predispose to ACC. This paper presents a case of a 12-year-old child diagnosed with TP53 mutation, preceded by ACC diagnosis.
Źródło:
OncoReview; 2023, 13, 3; 71-74
2450-6125
Pojawia się w:
OncoReview
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Application of a ring coupled double-Duffing oscillator to a scheme for identifying the coulter signal with a low SNR
Autorzy:
Zhao, Zhijie
Liu, Runcong
Wang, Xiaodong
Powiązania:
https://bibliotekanauki.pl/articles/2200898.pdf
Data publikacji:
2023
Wydawca:
Polskie Towarzystwo Mechaniki Teoretycznej i Stosowanej
Tematy:
simulated Coulter signal
pulsed signal identification
ring coupled double-Duffing oscillator
chaotic-transient synchronous mutation
continuous synchronous mutation
Opis:
In order to use chaotic oscillators to identify Coulter signals with a low SNR (SNR⩽0), a Gaussian pulse signal is used to simulate the Coulter signal, and we study the continuous synchronous mutation (CSM) phenomenon of a chaotic ring coupled double-Duffing (RCDD) oscillator to identify the signals. The maximum difference between the two state variables in the oscillator can be used to determine the anti-noise ability of the oscillator and construct a function to identify pulse amplitudes. A Simulink model is constructed to verify that the proposed method can be used to identify pulse amplitudes with a low SNR, which provides an approach for developing a technology of measuring Coulter signals with the low SNR.
Źródło:
Journal of Theoretical and Applied Mechanics; 2023, 61, 2; 379--393
1429-2955
Pojawia się w:
Journal of Theoretical and Applied Mechanics
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Analysis of modification of the evolutionary algorithm for sequencing production tasks
Autorzy:
Ciepliński, Piotr
Golak, Sławomir
Wieczorek, Tadeusz
Powiązania:
https://bibliotekanauki.pl/articles/29520067.pdf
Data publikacji:
2022
Wydawca:
Akademia Górniczo-Hutnicza im. Stanisława Staszica w Krakowie. Wydawnictwo AGH
Tematy:
evolutionary algorithm
task sequencing
mutation operator
algorytm ewolucyjny
operator mutacji
Opis:
Evolutionary algorithms are one of the heuristic techniques used to solve task sequencing problems. An important example of such a problem is the issue of sequencing production tasks. The combinatorial optimization of task sequences allows the minimization of the cost or time of a set of production tasks by reducing the components of these values which are present in the transitions between tasks. This paper aims to analyze the influence of the production nature expressed by a set of production task parameters and a definition of the task transition cost on the effectiveness of the modification of the evolutionary algorithm based on new directed stochastic mutation operators. The research carried out included the influence of the space dimension of the task parameters, the number of levels of the value of the cost function, and a definition of this function. The results obtained allow us to assess the effectiveness of the directed mutation in task sequencing for productions of various natures.
Źródło:
Computer Methods in Materials Science; 2022, 22, 3; 157-166
2720-4081
2720-3948
Pojawia się w:
Computer Methods in Materials Science
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Application of Gillespie algorithm for simulating evolution of fitness of microbial population
Autorzy:
Gil, Jarosław
Polański, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/38433970.pdf
Data publikacji:
2022
Wydawca:
Polskie Towarzystwo Promocji Wiedzy
Tematy:
clonal evolution
mutation waves
yeast evolution
numerical modelling
Opis:
In this study we present simulation system based on Gillespie algorithm for generating evolutionary events in the evolution scenario of microbial population. We present Gillespie simulation system adjusted to reproducing experimental data obtained in barcoding studies – experimental techniques in microbiology allowing tracing microbial populations with very high resolution. Gillespie simulation engine is constructed by defining its state vector and rules for its modifications. In order to efficiently simulate barcoded experiment by using Gillespie algorithm we provide modification – binning cells by lineages. Different bins define components of state in the Gillespie algorithm. The elaborated simulation model captures events in microbial population growth including death, division and mutations of cells. The obtained simulation results reflect population behavior, mutation wave and mutation distribution along generations. The elaborated methodology is confronted against literature data of experimental evolution of yeast tracking clones sub-generations. Simulation model was fitted to measurements in experimental data leading to good agreement.
Źródło:
Applied Computer Science; 2022, 18, 4; 5-15
1895-3735
2353-6977
Pojawia się w:
Applied Computer Science
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Clinico-epidemiological and vaccination profile of patients attending flu clinic of a tertiary health care institution in Eastern India during the third wave of COVID-19 pandemic
Autorzy:
Singh, CM
Chaudhary, Neha
Naik, Bijaya Nanda
Rao, Rajath
Pandey, Sanjay
Kumar Nirala, Santosh
Ranjan, Alok
Prasad, Santosh
Powiązania:
https://bibliotekanauki.pl/articles/2183412.pdf
Data publikacji:
2022-12-30
Wydawca:
Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
Tematy:
COVID-19
epidemiology
mutation
pandemic
SARS-CoV-2
vaccination
Opis:
Introduction and aim. With the third wave of COVID-19 hitting the country, there is an urgent need to systematically document the clinical-epidemiological and vaccination details of the patients to formulate evidence-based decisions. So, this study was planned to describe the profile of patients attending the flu clinic of a tertiary care hospital in eastern India. Material and methods. This hospital-based cross-sectional study was done for 6 weeks (Jan-Feb 2022) among 623 patients using a pre-tested, structured questionnaire related to COVID-19. An unadjusted odds ratio was calculated and statistical significance was attributed to a p-value <0.05. Results. Out of 623 patients, almost 90% of the patients were vaccinated against COVID-19 with at least one dose of any vaccine. Cough (57.8%) was the most common complaint. Patients aged > 60 years and those having one or more than one comorbidity suffered from moderate-severe COVID-19 infection when compared to their counterparts (p<0.001). Also, 2.1% of fully vaccinated, 3.8% of one dose vaccinated and 10.9% of unvaccinated patients suffered from moderate-severe COVID-19. Conclusion. During the third wave of the COVID-19 pandemic, a smaller number of elderlies compared to the previous two waves were affected indicating age shifting. The severity of COVID-19 was less among vaccinated individuals compared to unvaccinated highlighting the importance of COVID-19 vaccination.
Źródło:
European Journal of Clinical and Experimental Medicine; 2022, 4; 391-398
2544-2406
2544-1361
Pojawia się w:
European Journal of Clinical and Experimental Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Hyperuricosuria in the domestic dog (Canis lupus familiaris)
Hiperurykozuria u psa (Canis lupu familiaris)
Autorzy:
Gruszczyńska, J.
Szydłowska, K.
Łopieńska, M.
Siewruk, K.
Jundziłł-Bogusiewicz, P.
Grzegrzółka, B.
Powiązania:
https://bibliotekanauki.pl/articles/29433598.pdf
Data publikacji:
2022
Wydawca:
Zachodniopomorski Uniwersytet Technologiczny w Szczecinie. Wydawnictwo Uczelniane ZUT w Szczecinie
Tematy:
dog
animal disease
metabolic disease
hyperuricosuria
SLC2A9 gene
gene mutation
GLUT9
Źródło:
Acta Scientiarum Polonorum. Zootechnica; 2022, 21, 3; 13-18
1644-0714
Pojawia się w:
Acta Scientiarum Polonorum. Zootechnica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Identification of mutations of selected genes causing retinal degeneration in the domestic cat (Felis catus) – in silico analysis
Identyfikacja mutacji wybranych genów powodujących zwyrodnienie siatkówki u kota domowego (Felis catus) – analiza in silico
Autorzy:
Kurowska, P.
Gruszczyńska, J.
Grzegrzółka, B.
Powiązania:
https://bibliotekanauki.pl/articles/29433585.pdf
Data publikacji:
2022
Wydawca:
Zachodniopomorski Uniwersytet Technologiczny w Szczecinie. Wydawnictwo Uczelniane ZUT w Szczecinie
Tematy:
domestic cat
Felis catus
retinal degeneration
gene
mutation
diagnosis
CEP290
CRX
AIPL1
KIF3B
Źródło:
Acta Scientiarum Polonorum. Zootechnica; 2022, 21, 4; 39-46
1644-0714
Pojawia się w:
Acta Scientiarum Polonorum. Zootechnica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Multi-operator Differential Evolution with MOEA/D for Solving Multi-objective Optimization Problems
Autorzy:
Aggarwal, Sakshi
Mishra, Krishn K.
Powiązania:
https://bibliotekanauki.pl/articles/2142322.pdf
Data publikacji:
2022
Wydawca:
Instytut Łączności - Państwowy Instytut Badawczy
Tematy:
erential evolution
multi-objective
mutation operator
weighted-aggregation
Opis:
In this paper, we propose a multi-operator differentia evolution variant that incorporates three diverse mutation strategies in MOEA/D. Instead of exploiting the local region, the proposed approach continues to search for optimal solutions in the entire objective space. It explicitly maintains diversity of the population by relying on the benefit of clustering. To promowe convergence, the solutions close to the ideal position, in the objective space are given preference in the evolutionary process. The core idea is to ensure diversity of the population by applying multiple mutation schemes and a faster convergence rate, giving preference to solutions based on their proximity to the ideal position in the MOEA/D paradigm. The performance of the proposed algorithm is evaluated by two popular test suites. The experimental results demonstrate that the proposed approach outperforms other MOEA/D algorithms.
Źródło:
Journal of Telecommunications and Information Technology; 2022, 3; 85--95
1509-4553
1899-8852
Pojawia się w:
Journal of Telecommunications and Information Technology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Unequally Spaced Antenna Array Synthesis Using Accelerating Gaussian Mutated Cat Swarm Optimization
Autorzy:
Kumar, Prasanna K.
Pappula, Lakshman
Madhav, B. T. P.
Prabhakar, V. S. V.
Powiązania:
https://bibliotekanauki.pl/articles/2058505.pdf
Data publikacji:
2022
Wydawca:
Instytut Łączności - Państwowy Instytut Badawczy
Tematy:
Gaussian mutation
cat swarm optimization
linear antenna array
PSLL
Opis:
Low peak sidelobe level (PSLL) and antenna arrays with high directivity are needed nowadays for reliable wireless communication systems. Controlling the PSLL is a major is sue in designing effective antenna array systems. In this paper, a nature inspired technique, namely accelerating Gaussian mutated cat swarm optimization (AGMCSO) that attributes global search abilities, is proposed to control PSLL in the radiation pattern. In AGM-SCO, Gaussian mutation with an acceleration parameter is used in the position-updated equa tion, which allows the algorithm to search in a systematic way to prevent premature convergence and to enhance the speed of convergence. Experiments concerning several benchmark multimodal problems have been conducted and the obtained results illustrate that AGMCSO shows excellent performance concerning evolutionary speed and accuracy. To validate the overall efficacy of the algorithm, a sensitivity analysis was per formed for different AGMCSO parameters. AGMCSO was researched on numerous linear, unequally spaced antenna ar rays and the results show that in terms of generating low PSLL with a narrow first null beamwidth (FNBW), AGMCSO out performs conventional algorithms.
Źródło:
Journal of Telecommunications and Information Technology; 2022, 1; 99--109
1509-4553
1899-8852
Pojawia się w:
Journal of Telecommunications and Information Technology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Zmienność wirusów - przyczyny i skutki
Genetic viral variability - causes and effects
Autorzy:
Gliński, Zdzisław
Żmuda, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/22181107.pdf
Data publikacji:
2022
Wydawca:
Krajowa Izba Lekarsko-Weterynaryjna
Tematy:
wirusologia
wirusy
wirusy RNA
wirus grypy
wirus dengi
wirus zika
wirus Zachodniego Nilu
koronawirusy
przyczyny
mutacje
rekombinacja
skutki
wirus wścieklizny
zmienność genetyczna
RNA viruses
genetic variability
mutation
recombination
Opis:
Viruses are endowed with a great ability to adapt to different environments. It means altering their cellular tropism and crossing host animal species barriers. The basis of their evolutionary success lies in subtle genetic changes through mutations and major genetic changes through recombination and nucleotide substitution. Genetic recombination is one of the primary processes that produce the genetic diversity upon which natural selection acts. RNA viruses have a great potential for genetic variation, rapid evolution and adaptation. Since influenza viruses have segmented genome, the reassortment is among important mechanisms for generation of new hybrid strains and/or subtypes. The modifications of viral RNA genome are frequently dependent on RNA polymerases erroneous action during replication, on the evolutionary pressure, on the novel environment of the host, the immune pressure, or antiviral drugs pressure. Shift to the new host species and virus transmission by insect vectors induced changes due to positive selection of variants with higher fitness for host-virus or vector-virus interactions. This article covers basic aspects of genetic diversity mechanisms of mutation and recombination of selected RNA viruses. The Influenza virus, Denga, Zika, West Nile, Rabies and SARS‑CoV-2 are just among several examples of virus genetic variations, that influence rapid evolution of viral diseases, and make design of reliable vaccine quite difficult.
Źródło:
Życie Weterynaryjne; 2022, 97, 02; 75-80
0137-6810
Pojawia się w:
Życie Weterynaryjne
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Mutational witches’ broom impact on the growth of the parent branch in several Pinaceae species
Autorzy:
Zhuk, E.
Vasilyeva, G.
Goroshkevich, S.
Powiązania:
https://bibliotekanauki.pl/articles/2077653.pdf
Data publikacji:
2020
Wydawca:
Polska Akademia Nauk. Instytut Dendrologii PAN
Tematy:
somatic mutation
annual rings
crown part interaction
Opis:
Mutational witches’ broom is a part of the tree crown with abnormally dense branching and slow shoot growth, which putatively originates from a cell in a bud apical meristem and can be visually differentiated from the normal crown. The witches’ broom forms a large branching system which competes sufficiently with other parts of the tree crown. However, the competitive relationship and the interaction between the mutant and normal crown parts have not yet been studied. We investigated the patterns and dynamics of the competitive relationship between witches’ broom and normal branching systems of the same tree of five Pinaceae species by tree ring analysis. Three saw-cuts were made in each tree: on the lateral branch with the witches’ broom, on the proximal part of the axial branch in front of the branch with the witches’ broom, on the distal part of the axial branch right after the branch with the witches’ broom. An- nual radial growth was measured to the nearest 0.01 mm, and annual ring areas from three saw-cuts were analysed to compare the growth dynamics before and after witches’ broom appearance. The growth of the lateral branch with the witches’ broom sharply increased in the year of witches’ broom appearance by 2–10 times. The growth of the distal part of the axial branch sharply decreased in the same year, which could be explained only by the witches’ broom appearance. All branches with witches’ brooms gradually became thicker than the distal part of the branch, 3–150 times at the peak of growth, and occasionally outgrew even the proximal part of the branch. Thus, witches’ broom is drastically morphologically and physiologically different from the rest of the crown. All witches’ brooms had their own vertically oriented axis of symmetry and represented autonomous branching systems that were not subordinate to any other branching systems. They break the normal donor-acceptor relationship in a tree and eagerly consume resources without being fully involved in their production. The mutation clearly affects the hormonal regulation of growth and morphogenesis and turns a witches’ broom into a new metabolic sink.
Źródło:
Dendrobiology; 2020, 83; 52-59
1641-1307
Pojawia się w:
Dendrobiology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Organizational forms and methods of early diagnosis of hereditary tumors
Autorzy:
Kuzniatsou, A.
Shpakou, A.
Powiązania:
https://bibliotekanauki.pl/articles/2088006.pdf
Data publikacji:
2020
Wydawca:
Uniwersytet Opolski. Instytut Nauk o Zdrowiu
Tematy:
oncology
hereditary cancer
clinical risk
screening
risk
mutation
breast cancer
ovary cancer
colon cancer
Opis:
Background: With the development of genetic research in oncology, it has become possible to track and identify early and preclinical forms of hereditary oncological diseases, which allows timely and effective preventive and therapeutic measures in relation to relatives at risk. Aim of the study: Assessment of genetically determined neoplasms in the region and the development of organizational forms and methods for early diagnosis. Material and methods: 10,727 residents of the Belarus-Poland border region were examined. Clinical and medical history data of 2,054 patients with tumors of the breast (1406), ovaries (239), and colon (409) were analyzed. As a result of the questionnaire, three main observation groups were formed: “high risk of hereditary cancer”, “hereditary cancer suspected”, and “no risk of hereditary cancer”. Results: Register and hospital screenings were the most informative types of screening. Of the 149 HBC patients who underwent molecular genetic testing, BRCA1 gene mutations were found in 5.37%, 5382insC in all cases. Seven mutations were detected in 77 individuals with a diagnosis of HOC and in 6 cases 5382insC and in 2 – 4145delA. Signs of hereditary ovarian cancer and suspicion of it were found in 1.12%, including people who were found to have a high risk of hereditary ovarian cancer. By their effectiveness, register and hospital screenings significantly exceeded the population, p<0.01. 1.67% of women suffering from this disease met the high clinical risk criteria for hereditary ovarian cancer. A high clinical risk of hereditary tumor genesis was established in 0.73% of cases among patients with a diagnosis of colon cancer. Conclusions: The results of assessing the clinical risk of hereditary cancer according to population screening indicates that approximately 1.2% of the population has an increased clinical risk of developing hereditary breast, ovarian, and colon cancer.
Źródło:
Medical Science Pulse; 2020, 14, 1; 15-20
2544-1558
2544-1620
Pojawia się w:
Medical Science Pulse
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Pomutacyjna niestabilność głosu – opis przypadku
Post-Mutational Voice Instability – a Case Report
Autorzy:
Nawrocka, Lidia
Mackiewicz-Nartowicz, Hanna
Owczarzak, Hanna
Sinkiewicz, Anna
Garstecka, Agnieszka
Powiązania:
https://bibliotekanauki.pl/articles/892763.pdf
Data publikacji:
2020-08-30
Wydawca:
Polskie Towarzystwo Logopedyczne
Tematy:
mutacja głosu
zaburzenia głosu
pomutacyjna niestabilność głosu – rehabilitacja
puberfonia
voice mutation
voice disturbance
post-mutational voice instability – rehabilitation
puberphonia
Opis:
Pomutacyjna niestabilność głosu (PNG) – puberfonia, jest schorzeniem występującym rzadko. W pracy przedstawiono przypadek rehabilitacji logopedycznej pacjenta ze zdiagnozowaną pomutacyjną niestabilnością głosu. Pacjent został objęty opieką przez lekarza foniatrę, logopedę oraz psychologa. Wdrożono indywidualnie dostosowaną terapię logopedyczną. Przed rozpoczęciem rehabilitacji oraz po jej zakończeniu pacjent dokonywał samooceny głosu przy użyciu kwestionariusza Voice Handicap Index (VHI), skali dyskomfortu traktu głosowego Vocal Tract Discomfort (VTD) oraz kwestionariusza Oceny Jakości Życia zależnej od głosu Voice-Related Quality of Life (V-RQOL). Rehabilitację głosu prowadzono przez 6 miesięcy. W jej wyniku uzyskano niski, stabilny głos. Pozytywny efekt terapeutyczny u pacjenta był wynikiem ścisłej współpracy interdyscyplinarnego zespołu.
Post-mutational voice instability (PNG) – puberphonia is a rare disease. The paper presents a case of logopedic rehabilitation of a patient with diagnosed PNG. The patient was cared for by a phoniatric specialist, speech therapist, and psychologist. Customized logopedic therapy has been implemented. Before and after rehabilitation, the patient performed voice self-assessment using the Voice Handicap Index (VHI) questionnaire, the Vocal Track Discomfort (VTD) scale and evaluating questionnaire on the Voice-Related Quality of Life (V-RQOL). Rehabilitation was conducted for 6 months. It resulted in a low, stable voice. The positive therapeutic effect was the result of the cooperation of an interdisciplinary team.
Źródło:
Logopedia; 2019, 48, 1; 339-349
0459-6935
Pojawia się w:
Logopedia
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Prevalence of the factor V Leiden mutation in patients susceptible to venous thromboembolism
Częstość występowania mutacji czynnika V Leiden u pacjentów ze skłonnością do żylnej choroby zakrzepowo-zatorowej
Autorzy:
Mitrus, J.M.
Wierszyło, E.
Powiązania:
https://bibliotekanauki.pl/articles/2048961.pdf
Data publikacji:
2020
Wydawca:
Akademia Bialska Nauk Stosowanych im. Jana Pawła II w Białej Podlaskiej
Tematy:
hypercoagulability
Leiden mutation
genotyping techniques
Real-Time PCR
nadkrzepliwość
mutacja Leiden
genotypowanie
Opis:
Background. A tendency to venous thromboembolism is otherwise called hypercoagulability or thrombophilia. This disease can be acquired or have a genetic background, and may lead to pulmonary embolism. The basis for analysis and selection of treatment is genetic diagnosis, which detects the G1691A mutation in the factor V gene (factor V Leiden) – the best known congenital thrombophilia marker. Material and methods. The study was carried out in the years 2015-2017 on samples taken from patients (462 men and 1284 women) with a tendency to venous thromboembolism. Real-Time PCR was used to detect G1691A mutation in factor V gene. The analyses were performed in the Hematology Laboratory of the Center of Laboratory Medicine at the Medical University of Gdańsk. Results. Significant differences in the frequency of Leiden mutation were shown. This mutation predominated in men (25%), while in women G1691A mutation was detected with a 15% frequency (p=0.04). All possible genotypes were found among the subjects and the percentage of heterozygotes and homozygotes in both genders was similar. Conclusions. Congenital t hrombophilia a ssociated w ith G1691A mutation of f actor V Leiden gene was found to be more common in men than in women. All possible genotypes were determined in the pool of test subjects. The mutation was most frequently detected in patients between 30 and 40 years of age, and rarely after 70 years of age.
Wprowadzenie. Nadkrzepliwość (trombofilia) jest to skłonność do żylnej choroby zakrzepowozatorowej. Choroba ta może być nabyta lub mieć podłoże genetyczne i może prowadzić do zatorowości płucnej. Podstawą analizy i doboru leczenia jest diagnostyka genetyczna. Celem tej diagnostyki jest wykrycie mutacji G1691A w genie czynnika V (czynnik V Leiden) – najlepiej poznanego markera trombofilii wrodzonej. Materiał i metody. Badania zostały przeprowadzone w latach 2015-2017 na próbkach pobranych od pacjentów (462 mężczyzn i 1284 kobiet) ze skłonnością do żylnej choroby zakrzepowozatorowej. W celu wykrycia mutacji G1691A w genie czynnika V zastosowano metodę Real-Time PCR. Analizy zostały wykonane w Laboratorium Hematologii Uniwersyteckiego Centrum Medycyny Laboratoryjnej przy Gdańskim Uniwersytecie Medycznym. Wyniki. Wykazano istotne statystycznie różnice w częstości występowania mutacji Leiden. Mutację częściej występowała w grupie mężczyzn (25%), zaś u kobiet mutację G1691A wykrywano z częstością 15% (p=0,04). Wśród osób badanych stwierdzono wszystkie możliwe genotypy, a procentowy udział heterozygot i homozygot u obu płci był zbliżony. Wnioski. Trombofilia wrodzona związana z mutacją G1691A w genie czynnika V Leiden częściej występowała u mężczyzn niż kobiet. W puli osób poddanych testom oznaczono wszystkie możliwe genotypy. Mutację najczęściej wykrywano u pacjentów w przedziale wiekowym 30-40 lat, a najrzadziej po 70 roku życia.
Źródło:
Health Problems of Civilization; 2020, 14, 2; 83-93
2353-6942
2354-0265
Pojawia się w:
Health Problems of Civilization
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Urine iodine excretion in patients with papillary thyroid cancer evaluation of the relationship with the presence of BRAF mutation
Autorzy:
Celik, M.
Guldiken, S.
Ayturk, S.
Yilmaz Bulbul, B.
Kucukarda, A.
Can, N.
Tastekin, E.
Sezer, A.
Sut, N.
Tugrul, A.
Gurkan, H.
Tozkir, H.
Demirkan, B.
Powiązania:
https://bibliotekanauki.pl/articles/1192247.pdf
Data publikacji:
2020
Wydawca:
Uniwersytet Warmińsko-Mazurski w Olsztynie / Polskie Towarzystwo Magnezologiczne im. Prof. Juliana Aleksandrowicza
Tematy:
papillary thyroid cancer
BRAF mutation
urine iodine excretion
Opis:
Iodine is an essential element for the production of thyroid hormones. In recent years, it has been suggested that excessive consumption of iodine may play a role in the pathogenesis of papillary thyroid cancer (PTC). In addition, studies have suggested that high iodine consumption is an important risk factor for the formation of a BRAF mutation in the thyroid gland. A prospectively designed study included 132 cases scheduled for thyroidectomy for various reasons. Urine iodine levels of all patients were examined before the operation. The iodine excretion levels of the patients were grouped according to the median urinary iodine concentration determined in community screenings (those with <100 µg L-1 low iodine excretion, those with 100-199 µg L-1 normal iodine excretion, those with 200-299 µg L-1 high iodine excretion). Patients were divided into 3 groups according to the post-operative pathology results. As a result of thyroid histopathology, benign (n: 44), PTC (n: 88) (BRAF (+): 44 and BRAF (-): 44) cases were included in the study. BRAF mutations in patients diagnosed with PTC were evaluated using the “Real Time PCR Melting Curve Analyzer” method. The relationship between urinary iodine excretion levels and clinical, histopathological and BRAF positivity was examined. In our study, no difference was found in urinary iodine excretion between patients with and without PTC. Hashimoto’s thyroiditis was observed more frequently in patients with PTC (p=0.023). In addition, Hashimoto’s thyroiditis was statistically more frequently detected in the BRAF (-) group compared to the BRAF (+) and control group (p=0.034). Despite studies suggesting that high iodine consumption is important in PTC pathogenesis, we did not find a relationship between the mutation and iodine consumption, which plays an important role in the development of PTC.
Źródło:
Journal of Elementology; 2020, 25, 3; 1019-1028
1644-2296
Pojawia się w:
Journal of Elementology
Dostawca treści:
Biblioteka Nauki
Artykuł
Wyświetlanie 1-15 z 113

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