ENDEMSKA NEFROPATIJA U HRVATSKOJ Jelaković, Bojan; Dika, Živka; Karanović, Sandra ...
Liječnički vjesnik,
05/2015, Volume:
137, Issue:
3-4
Journal Article
Peer reviewed
Open access
Endemska nefropatija (EN) kronična je tubulointersticijska nefropatija aristolohične kiseline (AAN) koja se javlja u stanovnika određenih sela u dolinama velikih pritoka Dunava na jugoistoku Europe ...uključujući i Hrvatsku. Oboljeli od EN-a imaju znatno veću učestalost karcinoma prijelaznog epitela mokraćovoda nego opća populacija. Danas se smatra da je A:T transverzija gena p53 »potpisna« mutacija za aristolohičnu kiselinu koja je uzrok endemske nefropatije. Postojeći kriteriji za EN su zastarjeli, neujednačeni (tri vrste kriterija) te nisu u skladu s novim preporukama za klasifikaciju bubrežnih bolesti. Stoga su na temelju sadašnjih znanja i stručnosti grupe znanstvenika i stručnjaka iz svih zemalja s EN-om, kao i svijeta u kojem je AAN opisan stvoreni novi dijagnostički kriteriji i nova klasifikacija stanovništva endemskih sela na simpoziju o EN-u. EN je velik javnozdravstveni problem pa bi nam sadašnja znanja o ovoj bolesti, kao i novi dijagnostički kriteriji trebali pomoći u njezinu ranom otkrivanju i liječenju, a možda u nekoj bližoj budućnosti i njezinoj eradikaciji.
Classification of short stories category based on age of the reader is still difficult. Therefore, a decision support system to classify the short stories category is needed. Naïve Bayes is one of ...methods suitable for short stories classification. However, Naïve Bayes has flaws in accuracy level, and needs to be optimized. In this paper, Genetic algorithm is proposed to increase the level of accuracy. In this case, genetic algorithm is used for feature selection. The results show an increase in the level of accuracy produced. The accuracy increases from 78,59% to 84,29%. In conclusion, the application of genetic algorithm on Naïve Bayes in classifying the online short stories category can improve the accuracy.
Spinalna mišićna atrofi ja je autosomno recesivna, progresivna degenerativna bolest uzrokovana mutacijom gena SMN1 (survival of motor neuron 1) na kromosomu 5q. Djelotvorno zbrinjavanje bolesnika i ...utjecaj standardiziranog terapijskog pristupa radi postizanja kakvoće života zahtijeva multidisciplinski terapijski pristup i koordinaciju velikog broja stručnjaka - užih specijalista. Rana primjena neinvazivne ventilacije i aparata za potpomognuto iskašljavanje te ortopedski pristup rješavanju skolioze značajno povoljno utječu na prirodni tijek bolesti. Uspješan ishod terapijskih postupaka započinje ranom primjenom modifi cirajuće genetičke i genske terapije. Protusmjerni oligonukleotid nusinersen i mala molekula (risdiplam) usmjereni su na uključivanje egzona 7 u SMN2 mRNK te stvaranja stabilnog i funkcionalnog proteina, a genska terapija (onasemnogen abeparvovec) nadomjesna je terapija mutiranog gena SMN1. Rezultati primjene nusinersena upućuju na to da je napredak na testovima motoričkih funkcija najznačajniji u prvih 6 - 12 mjeseci primjene, osobito za spinalnu mišićnu atrofi ju tip 1, uz dobru podnošljivost s malim brojem nuspojava. Rana primjena modifi cirajuće terapije spinalne mišićne atrofi je, ponajprije u tipu 1, povezana je s promjenom prirodnog tijeka i ishoda bolesti u smislu zaustavljanja njene progresije i napretka u razvoju. Zasad nema međunarodno prihvaćenih kriterija za uključivanje bolesnika u gensku i genetičku terapiju prema tipovima, dobi, trajanju bolesti i ovisnosti o trajnoj mehaničkoj ventilaciji. Potrebna su dodatna ispitivanja radi procjene učinkovitosti terapije temeljem procjene motoričkih funkcija i stupnjeva motoričkog razvoja, terapijskog „prozora“, procjene ishoda pomoću biomarkera bolesti, trajanja liječenja, doze lijeka, nuspojava vezanih za dugotrajnu primjenu i ishoda terapije, ponajprije učinka na poremećaje ventilacije i gutanja, učinka na razvoj skolioze, kognitivnog razvoja te rasta i autonomnih funkcija te procjene objektivnosti ljestvica za procjenu motoričkih funkcija. Zaključak. Rano prepoznavanje kliničkih znakova, novorođenački probir i rana genetička dijagnoza, primjena ciljane terapije koja modifi cira tijek bolesti, redovito multidisciplinsko timsko praćenje i liječenje poremećaja disanja, ortopedskih i gastroenteroloških komplikacija bolesti, kao i rani početak tranzicijskog razdoblja neizostavan su dio skrbi o bolesnicima sa spinalnom mišićnom atrofi jom. Radi unapređenja zbrinjavanja i njege bolesnika, kao i standardizacije skrbi o njima značajna je kontinuirana evaluacija kriterija za uključivanje i prekid modifi cirajuće terapije te individualni pristup svakom bolesniku i poticanje osnivanja i redovitog obnavljanja registra bolesnika s neuromuskularnim bolestima s podatcima vezanim za ishod liječenja na nacionalnoj razini i u različitim zemljama širom svijeta, te njihovo međusobno povezivanje i suradnja.
Even before the publication of Darwin's Origin of Species, the perception of evolutionary change has been a tree-like pattern of diversification — with divergent branches spreading further and ...further from the trunk. In the only illustration of Darwin's treatise, branches large and small never reconnect. However, it is now evident that this view does not adequately encompass the richness of evolutionary pattern and process. Instead, the evolution of species from microbes to mammals builds like a web that crosses and re-crosses through genetic exchange, even as it grows outward from a point of origin. Some of the avenues for genetic exchange, for example introgression through sexual recombination versus lateral gene transfer mediated by transposable elements, are based on definably different molecular mechanisms. However, even such widely different genetic processes may result in similar effects on adaptations (either new or transferred), genome evolution, population genetics, and the evolutionary/ecological trajectory of organisms. For example, the evolution of novel adaptations (resulting from lateral gene transfer) leading to the flea-borne, deadly, causative agent of plague from a rarely-fatal, orally-transmitted, bacterial species is quite similar to the adaptations accrued from natural hybridization between annual sunflower species resulting in the formation of several new species. Thus, more and more data indicate that evolution has resulted in lineages consisting of mosaics of genes derived from different ancestors. It is therefore becoming increasingly clear that the tree is an inadequate metaphor of evolutionary change. In this book, the author promotes the ‘web-of-life’ metaphor as a more appropriate representation of evolutionary change in all life-forms.
This book presents a history of the last two centuries of biology. It covers early evolutionary biology — Lamarck, Cuvier, Darwin, and Wallace through to Mayr and the neodarwinian synthesis — and ...also discusses social implications, the struggles with our religious understanding, and the interweaving of genetics into evolutionary theory. The book's account is an integration of the cytological tradition and the new understanding of the diversification of life coming from comparative analyses of complete microbial genomes. The book includes the history of research and theories about symbiosis in evolution, research on microbial evolution, bacterial evolution, and symbiosis in evolution.
Curah hujan yang semakin tidak menentu memberikan efek yang cukup signifikan pada bidang pertanian dan perkebunan. Salah satu bidang perkebunan yang memanfaatkan pola curah hujan adalah perkebunan ...apel. Petani apel membutuhkan perhitungan curah hujan untuk menentukan kapan proses pembungaan yang tepat agar hasil panen yang di dapatkan bisa maksimal. Namun, karena tidak menentunya pola curah hujan, petani menjadi kesulitan dalam menentukan waktu pembungaan dan panen apel menjadi tidak maksimal. Pada penelitian ini dibuat sebuah pemodelan yang paling optimal dalam memprediksi curah hujan di daerah Batu, Jawa Timur menggunakan metode hybrid FIS Tsukamoto dan algoritma genetika. Metode hybrid yang dilakukan adalah mengoptimasi batasan fungsi keanggotaan FIS Tsukamoto menggunakan algoritma genetika. Setelah proses pengujian, penerapan metode Metode hybrid FIS Tsukamoto dan algoritma genetika dapat digunakan untuk memprediksi curah hujan dengan nilai error RMSE lebih kecil dibandingkan dengan FIS Tsukamoto tanpa optimasi. Nilai error RMSE pada daerah Junggo sebesar 6.485, pada daerah Pujon sebesar 6.932, pada daerah Tinjomulyo sebesar 5.969, pada daerah Ngujung sebesar 5.498.
Abstract
The erratic rainfall has a significant effect on agriculture and plantations. One area of plantations that utilizes rainfall patterns is apple plantations. Apple farmers need rainfall calculations to determine when the flowering process is right so that the yield can be maximized. However, due to the uncertainty of rainfall patterns, farmers have difficulty in determining the time of flowering and harvesting apples to be not optimal. In this study, the most optimal modeling was used to predict rainfall in the Batu area, East Java using the hybrid FIS Tsukamoto method and genetic algorithm. The hybrid method used is to optimize the boundary function of Tsukamoto's FIS membership using a genetic algorithm. After the testing process, the application of the hybrid method of the Tsukamoto FIS method and the genetic algorithm can be used to predict rainfall with a smaller RMSE error compared to the FIS Tsukamoto without optimization. RMSE error value in Junggo area is 6,485, in Pujon area is 6,932, in Tinjomulyo area is 5,969, in Ngujung area is 5,498.
Knapsack problems is a problem that often we encounter in everyday life. Knapsack problem itself is a problem where a person faced with the problems of optimization on the selection of objects that ...can be inserted into the container which has limited space or capacity. Problems knapsack problem can be solved by various optimization algorithms, one of which uses a genetic algorithm. Genetic algorithms in solving problems mimicking the theory of evolution of living creatures. The components of the genetic algorithm is composed of a population consisting of a collection of individuals who are candidates for the solution of problems knapsack. The process of evolution goes dimulasi of the selection process, crossovers and mutations in each individual in order to obtain a new population. The evolutionary process will be repeated until it meets the criteria o f an optimum of the resulting solution. The problems highlighted in this research is how to resolve the problem by applying a genetic algorithm knapsack. The results obtained by the testing of the system is built, that the knapsack problem can optimize the placement of goods in containers or capacity available. Optimizing the knapsack problem can be maximized with the appropriate input parameters.
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