Bibliometric indicators of author’s and journal’s scientific impact

Web of Science, Scopus i Google Scholar najveće su, multidisciplinarno orijentirane citatne baze podataka koje, osim za pretraživanje literature, služe i kao analitički instrumentarij za vrednovanje znanstvenog odjeka autora i časopisa. Danas se, i to posebno u Europi, čimbenik odjeka (engl. Impact Factor) koristi ne samo kao pokazatelj kvalitete časopisa nego i kao jedan od osnovnih pokazatelja znanstvene vrijednosti autora, što često stvara probleme i dovodi do krivih zaključaka. U ovom radu prikazani su najvažniji bibliometrijski pokazatelji rada znanstvenika i kvalitete časopisa koji su dostupni u bazama podataka Web of Science, Scopus i Google Scholar.Web of Science, Scopus and Google Scholar are the largest, multi-disciplinary oriented citation databases, which in addition to searching the literature are used as analytical tools for evaluating the scientific impact of authors and journals. Nowadays, especially in Europe, the impact factor is used not only as an indicator of the quality of the journal, but also as one of the main indicators of the scientific value of the author, which often causes problems and leads to false conclusions. This paper describes the most important bibliometric indicators of author’s scientific work and the quality of the journal that are available in the Web of Science, Scopus and Google Scholar databases

INVASIVE AND NON-INVASIVE METHODS OF PRENATAL DIAGNOSTICS

Brojne invazivne i neinvazivne metode danas su sastavni dio svake moderno organizirane prenatalne skrbi. Invazivni, dijagnostički testovi kao što su biopsija korion frondozuma i amniocenteza, primjenjuju se u visokorizičnih trudnoća, a neinvazivni, biokemijski i/ili ultrazvučni, testovi probira predv|đeni su za sve trudnice, bez obzira na dob i bez osobnog ili obiteljskoga genetičkog opterećenja. Svrha je probira utvrđivanje trudnica s povećanim rizikom za određeni poremećaj, što indicira daljnju dijagnostiku. Danas je u širokoj primjeni biokemijski test probira za trisomiju 21 (Downov sindrom), najčešću autosomnu aberaciju u ljudi. Probir se najčešće izvodi izme|u 15. i 18. tjedna trudnoće, a procjena rizika temelji se na riziku za trisomiju 21 ovisnom o godinama trudnice i riziku vezanom uz razinu serumskih biljega kao što su alfafetoprotein, humani korionski gonadotropin ili njegova slobodna -podjedinica i nekonjugirani estriol. Stopa detekcije Downova sindroma u drugom tromjesečju trudnoće kreće se od 60% do 75%, uz 5% lažnopozitivnih nalaza. Test probira može se izvoditi i u prvom tromjesečju i kombinacija je ultrazvučnog mjerenja nuhalnog nabora i mjerenja razine slobodnog -hCG-a i uz trudnoću vezanog plazma proteina-A (PAPP-A) u serumu trudnice. Stopa detekcije je viša nego u drugom tromjesečju i iznosi 75%–90%, uza stopu od 5% lažnopozitivnih nalaza. Uz Downov sindrom, biokemijskim testovima probira mogu se detektirati i neki drugi poremećaji kao što su oštećenja neuralne cijevi i prednje trbušne stijenke (drugo tromjesečje), trisomija 18 (Edwardsov sindrom), Turnerov sindrom, Smith-Lemli-Opitzov sindrom i deficijencija steroidne sulfatazeA variety of invasive and non-invasive tests have been included in the modern prenatal care. Invasive and diagnostic tests (chorionic villus sampling and amniocentesis) are performed in “high risk” pregnancies, while non-invasive, biochemical or/and ultrasonographical screening tests are available to all pregnant women regardless of their age, in particular to those women who do not have any personal or family history of genetic disorder. The purpose of a prenatal screening test is to identify individuals at a sufficient risk of a specific disorder to benefit from a further diagnostic investigation. Nowadays, the second trimester serum screening for one of the most common autosomal aberrations, trisomy 21 (Down syndrome), has been gaining a wide acceptance. Generally, it is carried out between 15 to 18 weeks of gestational age and the risk evaluation is based on the combination of the maternal agespecific risk for an affected pregnancy together with the risk associated with the concentrations of maternal serum alpha-fetoprotein, human chorionic gonadotropin or its free β-subunit and unconjugated estriol. The second trimester detection rate for Down syndrome is 60-75% at a 5% false positive rate. The first trimester screening for trisomy 21 can be performed using combined measuring of the fetal nuchal translucency thickness and the maternal serum free β-hCG as well as the pregnancy associated plasma protein-A. In this case, a detection rate of 75-90% at a 5% false positive rate can be achieved. In addition to Down syndrome, serum-screening tests are also effective in the detection of neural tube defects, abdominal wall defects, trisomy 18 (Edward’s syndrome), Turner syndrome, Smith-Lemli-Opitz syndrome and steroid sulfatase deficiency

INVASIVE AND NON-INVASIVE METHODS OF PRENATAL DIAGNOSTICS

Brojne invazivne i neinvazivne metode danas su sastavni dio svake moderno organizirane prenatalne skrbi. Invazivni, dijagnostički testovi kao što su biopsija korion frondozuma i amniocenteza, primjenjuju se u visokorizičnih trudnoća, a neinvazivni, biokemijski i/ili ultrazvučni, testovi probira predv|đeni su za sve trudnice, bez obzira na dob i bez osobnog ili obiteljskoga genetičkog opterećenja. Svrha je probira utvrđivanje trudnica s povećanim rizikom za određeni poremećaj, što indicira daljnju dijagnostiku. Danas je u širokoj primjeni biokemijski test probira za trisomiju 21 (Downov sindrom), najčešću autosomnu aberaciju u ljudi. Probir se najčešće izvodi izme|u 15. i 18. tjedna trudnoće, a procjena rizika temelji se na riziku za trisomiju 21 ovisnom o godinama trudnice i riziku vezanom uz razinu serumskih biljega kao što su alfafetoprotein, humani korionski gonadotropin ili njegova slobodna -podjedinica i nekonjugirani estriol. Stopa detekcije Downova sindroma u drugom tromjesečju trudnoće kreće se od 60% do 75%, uz 5% lažnopozitivnih nalaza. Test probira može se izvoditi i u prvom tromjesečju i kombinacija je ultrazvučnog mjerenja nuhalnog nabora i mjerenja razine slobodnog -hCG-a i uz trudnoću vezanog plazma proteina-A (PAPP-A) u serumu trudnice. Stopa detekcije je viša nego u drugom tromjesečju i iznosi 75%–90%, uza stopu od 5% lažnopozitivnih nalaza. Uz Downov sindrom, biokemijskim testovima probira mogu se detektirati i neki drugi poremećaji kao što su oštećenja neuralne cijevi i prednje trbušne stijenke (drugo tromjesečje), trisomija 18 (Edwardsov sindrom), Turnerov sindrom, Smith-Lemli-Opitzov sindrom i deficijencija steroidne sulfatazeA variety of invasive and non-invasive tests have been included in the modern prenatal care. Invasive and diagnostic tests (chorionic villus sampling and amniocentesis) are performed in “high risk” pregnancies, while non-invasive, biochemical or/and ultrasonographical screening tests are available to all pregnant women regardless of their age, in particular to those women who do not have any personal or family history of genetic disorder. The purpose of a prenatal screening test is to identify individuals at a sufficient risk of a specific disorder to benefit from a further diagnostic investigation. Nowadays, the second trimester serum screening for one of the most common autosomal aberrations, trisomy 21 (Down syndrome), has been gaining a wide acceptance. Generally, it is carried out between 15 to 18 weeks of gestational age and the risk evaluation is based on the combination of the maternal agespecific risk for an affected pregnancy together with the risk associated with the concentrations of maternal serum alpha-fetoprotein, human chorionic gonadotropin or its free β-subunit and unconjugated estriol. The second trimester detection rate for Down syndrome is 60-75% at a 5% false positive rate. The first trimester screening for trisomy 21 can be performed using combined measuring of the fetal nuchal translucency thickness and the maternal serum free β-hCG as well as the pregnancy associated plasma protein-A. In this case, a detection rate of 75-90% at a 5% false positive rate can be achieved. In addition to Down syndrome, serum-screening tests are also effective in the detection of neural tube defects, abdominal wall defects, trisomy 18 (Edward’s syndrome), Turner syndrome, Smith-Lemli-Opitz syndrome and steroid sulfatase deficiency

DE NOVO BALANCED RECIPROCAL TRANSLOCATION: TWO CASES

U radu su prikazana dva slučaja s de novo balansiranom recipročnom translokacijom, koja su detektirana u sklopu prenatalne dijagnostike. U takvim slučajevima nemoguće je sa sigurnošću prognozirati fenotip ploda/djeteta zbog saznanja o mogućnostima njegove promjene u 6% slučajeva. Kariotip je odre|en GTG-metodom oprugavanja kromosoma te fluorescentnom in situ hibridizacijom sa sondama YAC 758H11 (20q12),PCP 433 (4q11->21) i YAC 758h10 (1p31.1), PCP 122 (2pter- >2q21). U oba slučaja trudnoća i poro|đaj protekli su bez komplikacija i rođena su zdrava djeca. Kontrolnim pedijatarskim pregledom godinu dana nakon porođaja utvr|en je uredan psihomotorni razvoj djeceIn this study we describe two cases with de novo balanced reciprocal translocation detected by prenatal diagnosis. Genetic counselling can be problematic in such cases because the risk of phenotypic abnormality was 6%. Karyotyping was performed using the GTG-banding method and fluorescence in situ hybridisation with probes YAC 758H11 (20q12), PCP 433 (4q11->21) and YAC 758h10 (1p31.1), PCP 122 (2pter->2q21). In both cases, the pregnancies as well as the deliveries were carried out with no complication and both babies were born healthy. After a year they showed normal physical and mental developmen

DE NOVO BALANCED RECIPROCAL TRANSLOCATION: TWO CASES

U radu su prikazana dva slučaja s de novo balansiranom recipročnom translokacijom, koja su detektirana u sklopu prenatalne dijagnostike. U takvim slučajevima nemoguće je sa sigurnošću prognozirati fenotip ploda/djeteta zbog saznanja o mogućnostima njegove promjene u 6% slučajeva. Kariotip je odre|en GTG-metodom oprugavanja kromosoma te fluorescentnom in situ hibridizacijom sa sondama YAC 758H11 (20q12),PCP 433 (4q11->21) i YAC 758h10 (1p31.1), PCP 122 (2pter- >2q21). U oba slučaja trudnoća i poro|đaj protekli su bez komplikacija i rođena su zdrava djeca. Kontrolnim pedijatarskim pregledom godinu dana nakon porođaja utvr|en je uredan psihomotorni razvoj djeceIn this study we describe two cases with de novo balanced reciprocal translocation detected by prenatal diagnosis. Genetic counselling can be problematic in such cases because the risk of phenotypic abnormality was 6%. Karyotyping was performed using the GTG-banding method and fluorescence in situ hybridisation with probes YAC 758H11 (20q12), PCP 433 (4q11->21) and YAC 758h10 (1p31.1), PCP 122 (2pter->2q21). In both cases, the pregnancies as well as the deliveries were carried out with no complication and both babies were born healthy. After a year they showed normal physical and mental developmen

Altered LINE-1 methylation in Mothers of Children with Down Syndrome

Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. Numerous studies sustain a causal link between global DNA hypomethylation and genetic instability. It has been suggested that DNA hypomethylation might affect the structure and dynamics of chromatin regions that are critical for chromosome stability and segregation, thus favouring chromosomal nondisjunction during meiosis. Maternal global DNA hypomethylation has not yet been analyzed as a potential risk factor for chromosome 21 nondisjunction. This study aimed to asses the risk for DS in association with maternal global DNA methylation and the impact of endogenous and exogenous factors that reportedly influence DNA methylation status. Global DNA methylation was analyzed in peripheral blood lymphocytes by quantifying LINE-1 methylation using the MethyLight method. Levels of global DNA methylation were significantly lower among mothers of children with maternally derived trisomy 21 than among control mothers (P = 0.000). The combination of MTHFR C677T genotype and diet significantly influenced global DNA methylation (R2 = 4.5%, P = 0.046). The lowest values of global DNA methylation were observed in mothers with MTHFR 677 CT+TT genotype and low dietary folate. Although our findings revealed an association between maternal global DNA hypomethylation and trisomy 21 of maternal origin, further progress and final conclusions regarding the role of global DNA methylation and the occurrence of trisomy 21 are facing major challenge

Maternal LINE-1 DNA Methylation and Congenital Heart Defects in Down Syndrome

Background: Down syndrome (DS) is one of the most common chromosomal abnormalities associated with congenital heart defects (CHD), with approximately 40 to 60% of cases showing cardiac defects. This study assessed (i) the association between maternal LINE-1 methylation and the occurrence of CHDs in children with DS and (ii) the impact of endogenous maternal factors (MTHFR C677T polymorphism and maternal age) and exogenous maternal factors (cigarette smoking, alcohol intake, medication use, body mass index and dietary habits such as folate intake) on maternal LINE-1 methylation and on the occurrence of CHD in children with DS. Patients and Methods: The study included 90 mothers of children with DS of maternal origin (49% DS-CHD+ mothers/51% DS-CHD− mothers). LINE-1 DNA methylation was analyzed in peripheral blood lymphocytes by quantification of LINE-1 methylation using the MethyLight method. MTHFR C677T polymorphism genotyping was performed using PCR-RFLP. Results: LINE-1 methylation was not significantly different between DS-CHD+ and DS-CHD − mothers (P = 0.997). Combination of MTHFR C677T genotype/diet and BMI were significant independent predictors of LINE-1 DNA methylation in DS-CHD+ mothers (β −0.40, P = 0.01 and β −0.32, P = 0.03, respectively). In the analyzed multivariate model (model P = 0.028), these two factors explained around 72% of the variance in LINE-1 DNA methylation in mothers of children with DS and CHD. The group with the highest BMI (≥30 kg/m2) had significantly lower LINE-1 methylation than the group with normal BMI (Bonferroni post hoc P = 0.03) and the overweight group (Bonferroni post hoc P = 0.04). The lowest LINE-1 DNA methylation values were found in DS-CHD+ mothers with the CT+TT genotype and a low-folate diet; the values were significantly lower than the values in mothers with the CC genotype and a folate-rich diet (Bonferroni post hoc P = 0.04). Conclusion: Association between maternal LINE-1 methylation and CHD in children with DS was not found. Study showed that the MTHFR genotype/diet combination and BMI were significantly associated with LINE-1 methylation in mothers of children with DS-CHD + . These results highlight the need for a multifactorial approach to assess the roles of endogenous and exogenous maternal factors in maternal LINE-1 DNA methylation and the consequent pathologies in children. More extensive studies in a larger sample may help elucidate these relationships. Copyright © 2019 Babić Božović, Stanković, Živković, Vraneković, Mahulja-Stamenković and Brajenović-Milić.

UTJECAJ SPOLA FETUSA I PUŠENJA TE RODNOSTI MAJKE NA AFP I SLOBODNI beta-HCG U PLODOVOJ VODI UREDNIH TRUDNOĆA DRUGOG TROMJESEČJA

Objective. The aim is to investigate the influence of mother’s smoking and parity and fetal sex on AFP and free beta-hCG in amniotic fluid and to examine the correlation between maternal serum and amniotic fluid marker concentrations. Methods. The study was performed on 233 second-trimester amniotic fluid samples. In 75 women, blood sample was taken immediately before amniocentesis too. All pregnancies were singleton with normal fetal karyotype and outcome. Concentrations of AFP and free beta-hCG were determined by fluoroimmunoassay and converted to MoM, according to medians for unaffected pregnancies of the corresponding gestational age. Results. In smoking women, amniotic fluid free beta-hCG was significantly lower than in non-smoking ones (p=0.033), though AFP was not significantly different in regard to smoking habits (p=0.113). Significantly higher amniotic fluid free beta-hCG (p0,05 za oba biljega). Statistički značajna korelacija utvrđena je za koncentracije AFP (r=0,61; p<0,001) i slobodnog beta-hCG (r=0,35; p<0,002) između seruma i plodove vode. Zaključak. Rezultati ovog istraživanja potvrđuju utjecaj spola fetusa na vrijednosti slobodnog beta-hCG i AFP u plodovoj vodi kao i negativan utjecaj pušenja na razinu slobodnog beta-hCG. Promjene su istovjetne onima u serumu. Utjecaj pariteta na ispitivane biljege u plodovoj vodi nije potvrđen, moguće zbog nedovoljnog broja uzoraka