Risk factors for Down syndrome

Daunov sindrom (DS) je najčešća hromozomska anomalija čoveka. Do sada jedini dokazani faktor rizika za DS kod deteta su godine života majke. U 90% slučajeva klasične trizomije 21 hromozomsko nerazdvajanje odigra se tokom oogeneze. Kod nekih majki dece sa DS na�����en je visok titar antitiroidnih antitela pa je moguće da autoimune bolesti majke doprinose hromozomskom nerazdvajanju. U nekim porodicama uočena je sklonost kod majki i njihovih baka ka hromozomskom nerazdvajanju, što ukazuje na mogućnost citoplazmatskog nasle�����ivanja predispozicije za trizomiju 21. Tako�����e, ovarijalni ćelijski mozaicizam sa trizomijom 21 dokumentovan je kod majki sa jednim ili više dece sa Daunovim sindromom. Naše istraživanje obuhvatilo je za 5 godina, 76 slučajeva dece sa citogenetski potvr�����enim DS, od toga 30 živoro�����enih i 46 indukovanih pobačaja. Na osnovu sačinjenog upitnika praćen je veći broj parametara na osnovu kojih smo analizirali moguće faktore rizika koji ukazuju na Daunov sindrom kod ploda. Rezultati pokazuju da je u 94,7% slučajeva Daunov sindroma razlog bila klasična trizomija 21, i da majke mla�����e od 35 godina učestvuju sa 73,4% u populaciji živoro�����ene dece sa DS. Prisutna je povezanost broja prethodnih trudnoća i spontanih pobačaja sa većim rizikom za DS kod ploda. Najčešća indikacija za prenatalnu dijagnozu bile su godine života majke. Nedelja gestacije u kojoj je postavljena dijagnoza DS kod ploda bila je u proseku izme�����u 23. i 35., što ima za posledicu prekid trudnoće kasnije kada je rizik veći. Daunov sindrom kod nas i dalje ostaje aktuelan društveni, psihološki, sociološki, kao i značajan problem porodice sa decom sa Daunov sindromom.Down syndrome (DS) is the most common chromosome anomaly in humans. The only risk factor for DS proven so far is the maternal age. In 90% of classic trisomy 21 chromosomal nondisjunction takes place during oogenesis. Some mothers of DS children were found to have high antithyroid titers so one would assume that mother’s autoimmune diseases contribute to chromosomal nondisjunction. Within some families there is the tendency in mothers and their grandmothers towards chromosomal nondisjunction, which brings out the possibility of cytoplasmatic inheritance of predilection for trisomy 21. Furthermore, ovarian cellular mosaicism with trisomy 21 was documented in mothers with 1 or more children with Down syndrome. During 5 years we investigated 76 children with cytogenetically proven DS, 30 of those being liveborn, and 46 with induced abortion. The special questionnaire was made to monitor many parameters by which we analysed possible risk factors which suggest Down syndrome in fetus. The results show that classic trisomy 21 was in 94,7% cases, and that mothers younger than 35 years of age make 73,4% in the population of liveborn children with DS. There is a correlation between previous pregnancies and spontaneous miscarriages with a higher risk for DS in a fetus. The most common indication for prenatal diagnosis was maternal age. The mean week of gestation when the diagnosis of DS was made was 23-35, which meant that pregnancies were terminated later when the risk is higher. In our country Down syndrome remains acute social, psychological, sociological as well as important problem for families with DS children

Stargardt’s disease

Stargardtova bolest (STGD) je jedan od najčešćih oblika degeneracije makule u detinjstvu. Bolest je sporo progresivna i vodi teškom obliku slabovidosti (legalno slepilo). STGD se najčešće nasleđuje autozomno recesivno (AR), a mutacija ABCA 4 gena na hromozomu 1 je odgovorna za nastanak bolesti. Zbog mutacije gena onemogućen je transport materija do i od fotoreceptorskih ćelija. Posledično, nagomilava se lipofuscin u pigmentnom epitelu retine koji propada, i zajedno sa prisutnim A2E toksinom u fotoreceptorskim ćelijama dovodi do oštećenja i atrofije makule. Ove promene rezultiraju gubitkom centralnog vida. Kliničku sliku karakteriše gubitak centralne vidne oštrine, fotofobija, produžena adaptacija sa svetla na tamu kao i poremećaj kolornog vida. Sa progresijom promena u makuli javljaju se slepa polja (skotomi) u centralnom viđenju do praktično gubitka centralnog vida. Dijagnoza STGD se postavlja kliničkim pregledom (oftalmoskopija), i uz pomoć fluoresceinske angiografije (FA), elektroretinografije (ERG), elektrookulografije (EOG) i dr. Autori ilustruju pojedine stadijume bolesti sopstvenim kolor i angiofotografijama. Terapija STGD za sada nije moguća. Bolest je sporo progresivna i oboleloj deci treba omogućiti, stvaranjem potrebnih uslova, da nastave obrazovanje u školi koju su do tada pohađala, koliko god je to moguće. Na ovaj način bi se deci sa STGD pomoglo da vremenom prihvate svoju bolest. Profesionalna orijentacija zauzima značajno mesto u njihovom životu. Osobama sa porodičnim opterećenjem za STGD preporučuje se genetsko savetovanje pre zasnivanja porodice.Stargardt’s disease is one of the most frequent forms of childhood macular degeneration. The disease is slowly progressive leading to severe amblyopia (legal blindness). Stargardt’s disease is almost always inherited as autosomal recessive trait, with the mutation of ABCA4 gene on chromosome 1 being responsible. The consequence is disabled transport to and from retinal photoreceptor cells. Lipofuscin, deposited in retinal pigment epithelium, results in damaged RPE and macular atrophy. Those changes bring on loss of central vision. Clinical picture is characterized by decreased visual acuity, photophobia and impaired adaptation to darkness. As macular changes progress visual fields show blind spots up to loss of central vision. Diagnostic methods used are ophthalmoscopy, fluorescein angiography, electroretinography, electrooculography etc. Authors illustrate certain varieties of the disease with own photos and angiograms. The therapy for Stargardt’s disease is not possible at the moment. The disease is slowly progressive and therefore the affected children should be allowed to continue education in regular schools as long as possible. That would allow a child to accept the disease with the time. Therefore occupational orientation is very important. Those with positive family history of Stargardt’s disease should seek genetic counseling

Risk factors for Down syndrome

Daunov sindrom (DS) je najčešća hromozomska anomalija čoveka. Do sada jedini dokazani faktor rizika za DS kod deteta su godine života majke. U 90% slučajeva klasične trizomije 21 hromozomsko nerazdvajanje odigra se tokom oogeneze. Kod nekih majki dece sa DS na�����en je visok titar antitiroidnih antitela pa je moguće da autoimune bolesti majke doprinose hromozomskom nerazdvajanju. U nekim porodicama uočena je sklonost kod majki i njihovih baka ka hromozomskom nerazdvajanju, što ukazuje na mogućnost citoplazmatskog nasle�����ivanja predispozicije za trizomiju 21. Tako�����e, ovarijalni ćelijski mozaicizam sa trizomijom 21 dokumentovan je kod majki sa jednim ili više dece sa Daunovim sindromom. Naše istraživanje obuhvatilo je za 5 godina, 76 slučajeva dece sa citogenetski potvr�����enim DS, od toga 30 živoro�����enih i 46 indukovanih pobačaja. Na osnovu sačinjenog upitnika praćen je veći broj parametara na osnovu kojih smo analizirali moguće faktore rizika koji ukazuju na Daunov sindrom kod ploda. Rezultati pokazuju da je u 94,7% slučajeva Daunov sindroma razlog bila klasična trizomija 21, i da majke mla�����e od 35 godina učestvuju sa 73,4% u populaciji živoro�����ene dece sa DS. Prisutna je povezanost broja prethodnih trudnoća i spontanih pobačaja sa većim rizikom za DS kod ploda. Najčešća indikacija za prenatalnu dijagnozu bile su godine života majke. Nedelja gestacije u kojoj je postavljena dijagnoza DS kod ploda bila je u proseku izme�����u 23. i 35., što ima za posledicu prekid trudnoće kasnije kada je rizik veći. Daunov sindrom kod nas i dalje ostaje aktuelan društveni, psihološki, sociološki, kao i značajan problem porodice sa decom sa Daunov sindromom.Down syndrome (DS) is the most common chromosome anomaly in humans. The only risk factor for DS proven so far is the maternal age. In 90% of classic trisomy 21 chromosomal nondisjunction takes place during oogenesis. Some mothers of DS children were found to have high antithyroid titers so one would assume that mother’s autoimmune diseases contribute to chromosomal nondisjunction. Within some families there is the tendency in mothers and their grandmothers towards chromosomal nondisjunction, which brings out the possibility of cytoplasmatic inheritance of predilection for trisomy 21. Furthermore, ovarian cellular mosaicism with trisomy 21 was documented in mothers with 1 or more children with Down syndrome. During 5 years we investigated 76 children with cytogenetically proven DS, 30 of those being liveborn, and 46 with induced abortion. The special questionnaire was made to monitor many parameters by which we analysed possible risk factors which suggest Down syndrome in fetus. The results show that classic trisomy 21 was in 94,7% cases, and that mothers younger than 35 years of age make 73,4% in the population of liveborn children with DS. There is a correlation between previous pregnancies and spontaneous miscarriages with a higher risk for DS in a fetus. The most common indication for prenatal diagnosis was maternal age. The mean week of gestation when the diagnosis of DS was made was 23-35, which meant that pregnancies were terminated later when the risk is higher. In our country Down syndrome remains acute social, psychological, sociological as well as important problem for families with DS children

Stargardt’s disease

Stargardtova bolest (STGD) je jedan od najčešćih oblika degeneracije makule u detinjstvu. Bolest je sporo progresivna i vodi teškom obliku slabovidosti (legalno slepilo). STGD se najčešće nasleđuje autozomno recesivno (AR), a mutacija ABCA 4 gena na hromozomu 1 je odgovorna za nastanak bolesti. Zbog mutacije gena onemogućen je transport materija do i od fotoreceptorskih ćelija. Posledično, nagomilava se lipofuscin u pigmentnom epitelu retine koji propada, i zajedno sa prisutnim A2E toksinom u fotoreceptorskim ćelijama dovodi do oštećenja i atrofije makule. Ove promene rezultiraju gubitkom centralnog vida. Kliničku sliku karakteriše gubitak centralne vidne oštrine, fotofobija, produžena adaptacija sa svetla na tamu kao i poremećaj kolornog vida. Sa progresijom promena u makuli javljaju se slepa polja (skotomi) u centralnom viđenju do praktično gubitka centralnog vida. Dijagnoza STGD se postavlja kliničkim pregledom (oftalmoskopija), i uz pomoć fluoresceinske angiografije (FA), elektroretinografije (ERG), elektrookulografije (EOG) i dr. Autori ilustruju pojedine stadijume bolesti sopstvenim kolor i angiofotografijama. Terapija STGD za sada nije moguća. Bolest je sporo progresivna i oboleloj deci treba omogućiti, stvaranjem potrebnih uslova, da nastave obrazovanje u školi koju su do tada pohađala, koliko god je to moguće. Na ovaj način bi se deci sa STGD pomoglo da vremenom prihvate svoju bolest. Profesionalna orijentacija zauzima značajno mesto u njihovom životu. Osobama sa porodičnim opterećenjem za STGD preporučuje se genetsko savetovanje pre zasnivanja porodice.Stargardt’s disease is one of the most frequent forms of childhood macular degeneration. The disease is slowly progressive leading to severe amblyopia (legal blindness). Stargardt’s disease is almost always inherited as autosomal recessive trait, with the mutation of ABCA4 gene on chromosome 1 being responsible. The consequence is disabled transport to and from retinal photoreceptor cells. Lipofuscin, deposited in retinal pigment epithelium, results in damaged RPE and macular atrophy. Those changes bring on loss of central vision. Clinical picture is characterized by decreased visual acuity, photophobia and impaired adaptation to darkness. As macular changes progress visual fields show blind spots up to loss of central vision. Diagnostic methods used are ophthalmoscopy, fluorescein angiography, electroretinography, electrooculography etc. Authors illustrate certain varieties of the disease with own photos and angiograms. The therapy for Stargardt’s disease is not possible at the moment. The disease is slowly progressive and therefore the affected children should be allowed to continue education in regular schools as long as possible. That would allow a child to accept the disease with the time. Therefore occupational orientation is very important. Those with positive family history of Stargardt’s disease should seek genetic counseling

A pioneer of yeast genetics in Croatia: Zoran Zgaga’s contribution to make national research acknowledged worldwide

This study is an attempt to evaluate the pathway and the achievements of yeast genetics in Croatia. The study represents both, an authors’ review and a historical overview and therefore is of value for yeast geneticists aswell as for historians of science

A pioneer of yeast genetics in Croatia: Zoran Zgaga’s contribution to make national research acknowledged worldwide

This study is an attempt to evaluate the pathway and the achievements of yeast genetics in Croatia. The study represents both, an authors’ review and a historical overview and therefore is of value for yeast geneticists aswell as for historians of science

DIJAGNOZA HLAMIDIJALNE INFEKCIJE

Chlamydial infection affects young, sexually active persons. As the most common bacterial sexually transmitted infection in the world, Chlamydia can lead to severe consequences in reproductive system, including chronic pelvic inflammatory disease, ectopic pregnancy and tubal factor infertility. On the other hand, although in large number of women the immune response is capable of removing the pathogen, infection can ascendently spread to the upper reproductive tract where can develop into persistent infection. Diagnostic procedures for detecting chlamydial infection include direct and indirect methods. Localized acute infections are detected by direct pathogen detection using cell culture, tests for qualitative detection of antigens, hybridization tests and nucleic acid amplification tests. When the infection has passed on the upper genital tract, especially in the case of a developed persistent infection, the diagnosis is usually made by indirect methods - the detection of antibodies to chlamydial antigens. Direct pathogen detection in patient material is necessary for the diagnosis of an acute chlamydial infection. Of all direct diagnostic tests, nucleic acid amplification tests are the only tests recommended by European and American Center for Disease Control and Prevention which can be used for the diagnosis of an acute chlamydial infection. These tests are recommended for their high sensitivity, specificity and diagnostic speed. Indirect serological tests which detect immune response or antibodies specific to chlamydial antigens are recommended for the detection of persistent chlamydial infection. Serum samples are relatively easy to collect, while tissue samples from the place of persistent infection are often hard to reach or unavailable.Publishe

Supplementary data for the article: Ninković, D. B.; Moncho, S.; Petrović, P. V.; Zarić, S. D.; Hall, M. B.; Brothers, E. N. Methane Activations by Titanium Neopentylidene Complexes: Electronic Resilience and Steric Control. Inorganic Chemistry 2017, 56 (15), 9264–9272. https://doi.org/10.1021/acs.inorgchem.7b01340

Supporting information for: [https://doi.org/10.1021/acs.inorgchem.7b01340 ]Related to published version: [http://cherry.chem.bg.ac.rs/handle/123456789/317

Supplementary data for the article: Ninković, D. B.; Moncho, S.; Petrović, P. V.; Zarić, S. D.; Hall, M. B.; Brothers, E. N. Methane Activations by Titanium Neopentylidene Complexes: Electronic Resilience and Steric Control. Inorganic Chemistry 2017, 56 (15), 9264–9272. https://doi.org/10.1021/acs.inorgchem.7b01340

Supporting information for: [https://doi.org/10.1021/acs.inorgchem.7b01340 ]Related to published version: [http://cherry.chem.bg.ac.rs/handle/123456789/317

Supplementary data for article: Ninković, D. B.; Malenov, D. P.; Petrović, P. V.; Brothers, E. N.; Niu, S.; Hall, M. B.; Belić, M. R.; Zarić, S. D. Unexpected Importance of Aromatic–Aliphatic and Aliphatic Side Chain–Backbone Interactions in the Stability of Amyloids. Chemistry - A European Journal 2017, 23 (46), 11046–11053. https://doi.org/10.1002/chem.201701351

Supporting information for: [https://doi.org/10.1002/chem.201701351]Related to published version: [http://cherry.chem.bg.ac.rs/handle/123456789/2506]Related to accepted version: [http://cherry.chem.bg.ac.rs/handle/123456789/3118