Chromosomal Aberrations in Persons with Altered Fertility

Neplodnost je u novije doba veliki zdravstveni problem koji pogaĎa 15% populacije reproduktivne dobi. Definira se kao izostanak ţeljene trudnoće uz redovite, nezaštićene spolne odnose tijekom razdoblja od najmanje godinu dana. Neplodnost moţe biti uzrokovana ţenskim, muškim ili zajedničkim faktorima, no u većini slučajeva dijagnoza ostaje nepoznata odnosno definira se idiopatskom ili neobjašnjivom neplodnošću. Jedan od čimbenika koji utječe na pojavu idiopatske neplodnosti je genetička predispozicija, odnosno postojanje specifičnih genotipova i fenotipova muškaraca i ţena povezanih s neplodnošću, a otkrivaju se kariotipizacijom neplodnih parova. Poremećaji u graĎi i broju kromosoma uočeni kariotipizacijom se jednim imenom nazivaju kromosomopatije te čine gensku odrednicu neplodnosti. Uključuju kromosomske abnormalnosti tjelesnih i spolnih kromosoma te utječu na muškarce i ţene. Svrha ovog završnog rada je obraditi rezultate istraţivanja provedenih na neplodnim parovima te utvrditi kromosomopatije koje mogu biti jedan od potencijalnih uzroka nastanka neplodnosti ili neuspjeha terapijskog pristupa metodama medicinski pomognute oplodnje (MPO). U literaturnim pregledu rezultata najfrekventnije kromosomopatije u ţena su gonosomalni mozaicizmi, a u muškaraca Klinefelterov sindrom. UtvrĎivanje frekvencija pojavnosti odreĎenih kromosomopatija omogućava odabir adekvatnog pristupa liječenju te usmjerenje ka genetičkom savjetovanju parova u svrhu informiranja o posljedicama liječenja metodama MPO koje uključuju prenošenje kromosomopatija na potomke odnosno rizik od ponovljenih spontanih pobačaja te kongenitalnih malformacija ploda.Infertility is becoming a public health issue which affects about 15% of the population in reproductive age. Infertility is defined as inability to conceive after one year of regular, unprotected intercourse. Although, both male, female and mutual factor can contribute to infertility, in many cases diagnosis are defined as unexplained. Unexplained infertility could be caused by a variety of reasons, including most common one, a genetic component which is related to specific genotypes and phenotypes associated with infertility. Chromosome analysis also known as karyotyping can reveal certain chromosomal abnormalities correlated to genetic causes of infertility. Although chromosomal abnormalities involve autosome and gonosome disorders they also affect both men and woman. The purpose of this literature review is to process current research results of karyotyped infertile couples and to determine which chromosome abnormalities could potentially cause infertility or could be associated with low-respond to couples undergoing assisted reproductive techniques (ART). Nevertheless, by determining the type and prevalence of certain chromosomal abnormality, the most frequent ones have proven to be gonosomal mosaics for woman and Klinefelter syndrome in males. After detecting certain chromosomal abnormality, couple should be lead to comprehensive genetic counselling which includes information about possible outcomes of ART as genetic risk of unbalanced offspring and high rates of miscarriages and congenital malformation

Chromosomal Aberrations in Persons with Altered Fertility

Neplodnost je u novije doba veliki zdravstveni problem koji pogaĎa 15% populacije reproduktivne dobi. Definira se kao izostanak ţeljene trudnoće uz redovite, nezaštićene spolne odnose tijekom razdoblja od najmanje godinu dana. Neplodnost moţe biti uzrokovana ţenskim, muškim ili zajedničkim faktorima, no u većini slučajeva dijagnoza ostaje nepoznata odnosno definira se idiopatskom ili neobjašnjivom neplodnošću. Jedan od čimbenika koji utječe na pojavu idiopatske neplodnosti je genetička predispozicija, odnosno postojanje specifičnih genotipova i fenotipova muškaraca i ţena povezanih s neplodnošću, a otkrivaju se kariotipizacijom neplodnih parova. Poremećaji u graĎi i broju kromosoma uočeni kariotipizacijom se jednim imenom nazivaju kromosomopatije te čine gensku odrednicu neplodnosti. Uključuju kromosomske abnormalnosti tjelesnih i spolnih kromosoma te utječu na muškarce i ţene. Svrha ovog završnog rada je obraditi rezultate istraţivanja provedenih na neplodnim parovima te utvrditi kromosomopatije koje mogu biti jedan od potencijalnih uzroka nastanka neplodnosti ili neuspjeha terapijskog pristupa metodama medicinski pomognute oplodnje (MPO). U literaturnim pregledu rezultata najfrekventnije kromosomopatije u ţena su gonosomalni mozaicizmi, a u muškaraca Klinefelterov sindrom. UtvrĎivanje frekvencija pojavnosti odreĎenih kromosomopatija omogućava odabir adekvatnog pristupa liječenju te usmjerenje ka genetičkom savjetovanju parova u svrhu informiranja o posljedicama liječenja metodama MPO koje uključuju prenošenje kromosomopatija na potomke odnosno rizik od ponovljenih spontanih pobačaja te kongenitalnih malformacija ploda.Infertility is becoming a public health issue which affects about 15% of the population in reproductive age. Infertility is defined as inability to conceive after one year of regular, unprotected intercourse. Although, both male, female and mutual factor can contribute to infertility, in many cases diagnosis are defined as unexplained. Unexplained infertility could be caused by a variety of reasons, including most common one, a genetic component which is related to specific genotypes and phenotypes associated with infertility. Chromosome analysis also known as karyotyping can reveal certain chromosomal abnormalities correlated to genetic causes of infertility. Although chromosomal abnormalities involve autosome and gonosome disorders they also affect both men and woman. The purpose of this literature review is to process current research results of karyotyped infertile couples and to determine which chromosome abnormalities could potentially cause infertility or could be associated with low-respond to couples undergoing assisted reproductive techniques (ART). Nevertheless, by determining the type and prevalence of certain chromosomal abnormality, the most frequent ones have proven to be gonosomal mosaics for woman and Klinefelter syndrome in males. After detecting certain chromosomal abnormality, couple should be lead to comprehensive genetic counselling which includes information about possible outcomes of ART as genetic risk of unbalanced offspring and high rates of miscarriages and congenital malformation

Chromosomal Aberrations in Persons with Altered Fertility

Neplodnost je u novije doba veliki zdravstveni problem koji pogaĎa 15% populacije reproduktivne dobi. Definira se kao izostanak ţeljene trudnoće uz redovite, nezaštićene spolne odnose tijekom razdoblja od najmanje godinu dana. Neplodnost moţe biti uzrokovana ţenskim, muškim ili zajedničkim faktorima, no u većini slučajeva dijagnoza ostaje nepoznata odnosno definira se idiopatskom ili neobjašnjivom neplodnošću. Jedan od čimbenika koji utječe na pojavu idiopatske neplodnosti je genetička predispozicija, odnosno postojanje specifičnih genotipova i fenotipova muškaraca i ţena povezanih s neplodnošću, a otkrivaju se kariotipizacijom neplodnih parova. Poremećaji u graĎi i broju kromosoma uočeni kariotipizacijom se jednim imenom nazivaju kromosomopatije te čine gensku odrednicu neplodnosti. Uključuju kromosomske abnormalnosti tjelesnih i spolnih kromosoma te utječu na muškarce i ţene. Svrha ovog završnog rada je obraditi rezultate istraţivanja provedenih na neplodnim parovima te utvrditi kromosomopatije koje mogu biti jedan od potencijalnih uzroka nastanka neplodnosti ili neuspjeha terapijskog pristupa metodama medicinski pomognute oplodnje (MPO). U literaturnim pregledu rezultata najfrekventnije kromosomopatije u ţena su gonosomalni mozaicizmi, a u muškaraca Klinefelterov sindrom. UtvrĎivanje frekvencija pojavnosti odreĎenih kromosomopatija omogućava odabir adekvatnog pristupa liječenju te usmjerenje ka genetičkom savjetovanju parova u svrhu informiranja o posljedicama liječenja metodama MPO koje uključuju prenošenje kromosomopatija na potomke odnosno rizik od ponovljenih spontanih pobačaja te kongenitalnih malformacija ploda.Infertility is becoming a public health issue which affects about 15% of the population in reproductive age. Infertility is defined as inability to conceive after one year of regular, unprotected intercourse. Although, both male, female and mutual factor can contribute to infertility, in many cases diagnosis are defined as unexplained. Unexplained infertility could be caused by a variety of reasons, including most common one, a genetic component which is related to specific genotypes and phenotypes associated with infertility. Chromosome analysis also known as karyotyping can reveal certain chromosomal abnormalities correlated to genetic causes of infertility. Although chromosomal abnormalities involve autosome and gonosome disorders they also affect both men and woman. The purpose of this literature review is to process current research results of karyotyped infertile couples and to determine which chromosome abnormalities could potentially cause infertility or could be associated with low-respond to couples undergoing assisted reproductive techniques (ART). Nevertheless, by determining the type and prevalence of certain chromosomal abnormality, the most frequent ones have proven to be gonosomal mosaics for woman and Klinefelter syndrome in males. After detecting certain chromosomal abnormality, couple should be lead to comprehensive genetic counselling which includes information about possible outcomes of ART as genetic risk of unbalanced offspring and high rates of miscarriages and congenital malformation

Autonomous Sensor Data Cleaning in Stream Mining Setting

Background: Internet of Things (IoT), earth observation and big scientific experiments are sources of extensive amounts of sensor big data today. We are faced with large amounts of data with low measurement costs. A standard approach in such cases is a stream mining approach, implying that we look at a particular measurement only once during the real-time processing. This requires the methods to be completely autonomous. In the past, very little attention was given to the most time-consuming part of the data mining process, i.e. data pre-processing. Objectives: In this paper we propose an algorithm for data cleaning, which can be applied to real-world streaming big data. Methods/Approach: We use the short-term prediction method based on the Kalman filter to detect admissible intervals for future measurements. The model can be adapted to the concept drift and is useful for detecting random additive outliers in a sensor data stream. Results: For datasets with low noise, our method has proven to perform better than the method currently commonly used in batch processing scenarios. Our results on higher noise datasets are comparable. Conclusions: We have demonstrated a successful application of the proposed method in real-world scenarios including the groundwater level, server load and smart-grid data

ASSIGNING KEYWORDS TO DOCUMENTS USING MACHINE LEARNING

This paper describes the usage of machine learning techniques to assign keywords to documents. The large hierarchy of documents available on the Web, the Yahoo hierarchy, is used here as a real-world problem domain. Machine learning techniques developed for learning on text data are used here in the hierarchical classification structure. The high number of features is reduced by taking into account the hierarchical structure and using a feature subset selection based on the method used in information retrieval. Documents are represented as word-vectors that include word sequences (n-grams) instead of just single words. The hierarchical structure of the examples and class values is taken into account when defining the subproblems and forming training examples for them. Additionally, a hierarchical structure of class values is used in classification, where only promising paths in the hierarchy are considered