The aim of this study was to determine if insertion-deletion polymorphism of angiotensin-converting enzyme is a risk
factor for the development of preeclampsia. Sixty women with preeclampsia and 50 ...normotensive pregnant women were
included in this study. Preeclampsia was defined as blood pressure > 140/90 mmHg in a previously normotensive women
with proteinuria >300 mg/L in a 24-hours. Twelve women also had preeclampsia in previous pregnancy. The genotyping
of polymorphism in the intron 16 of the angiotensin-converting enzyme was performed by the polymerase chain reaction
followed by the agarose electrophoresis. The patients were divided into three groups according to the presence (I)
or absence (D) of insertional polymorphism (II, ID, and DD). Genotype distribution and allele frequencies were compared
by Mantel-Haenszel c
2 testing. The frequency of DD genotype was not significantly higher in women with preeclampsia
(26/60)than in the control group (14/50, p=0.096). The D allele frequency was significantly higher in 17 women with
preeclampsias who required delivery before 34 weeks of pregnancy (0.735), than in 43 women in whom obstetric complications
took place after 34 weeks of pregnancy (0.56, p=0.036). The D allele frequency was 0.83 in women having recurrent
preeclampsia, i.e. significantly higher compared with women, who were for the first time, experienced preeclampsia
(0.57, p=0.013). This study showed a significantly positive association between D allele frequency and risk of recurrent
preeclampsia and preterm delivery before 34 weeks of pregnancy. The deletion genotype could be an important contributing
factor for an early onset and recurrent preeclampsia.
Complete hydatidiform mole and coexisting healthy twin: a rare case of a benign form Miskovic, Berivoj; Stipoljev, Feodora; Drmic, Irena ...
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians,
12/2006, Volume:
19, Issue:
12
Report
Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP). The disorder is caused ...by various mutations in the TNSALP gene localized on short arm of chromosome 1. Infantile hypophosphatasia is a severe form of the disease inherited as an autosomal recessive trait which presents before age of six months and often has fatal outcome. We report a patient with typical clinical course for infantile hypophosphatasia who was homozygous for the c.1402G>A mutation. The same mutation has been previously associated with a more severe perinatal form also in a Croatian family what indicates a possible common ancestral origin and phenotypic variability potential of c.1402G>A mutation of TNSALP gene.
Autosomal trisomies account for more than 80 % of significant chromosomal disorders and are routinely detected by the cytogenetic analysis of cultivated amniotic fluid cells. However, this approach ...is time-consuming and requires a significant level of training and expertise. The main aim of our work was to introduce QF-PCR to our lab, a quicker, simpler and cheaper method. We also aimed to evaluate the usefulness of the chosen marker set in the Croatian population and the reliability and accuracy of the obtained results. STR loci from chromosomes 13, 18 and 21 were co-amplified, separated by capillary electrophoresis and analysed. Characteristic triplets and/or 2:1 patterns were detected for trisomic samples while normal samples were either homozygous or heterozygous. The tested set of loci showed high heterozygosity and therefore a good potential for analyzing the Croatian population. The results of QF-PCR were in full compliance with the cytogenetic analysis which was also performed for cultivated amniotic fluid cell samples.
Cilj rada je bio na vlastitom uzorku utvrditi u kojoj mjeri ultrazvučni nalaz hiperehogenih intrakardijalnih žarišta (IEF) pridonosi dijagnostici kromosomopatija i strukturalnih anomalija. Uzorak i ...metode. Tijekom dvije godine 190 trudnica između 12. i 39. tjedna trudnoće je primljeno radi fetalne ehokardiografije. Pregled je obavljen vaginalnom sondom od 5 MHz pri trudnoćama 12.–17. tjedna ili zavinutom abdominalnom sondom od 3,5 MHz nakon 17. tjedna trudnoće. Rezultati. IEF su nađeni u 17 fetusa, multifokalni u 2 od njih. U 3 fetusa su IEF u roku od osam tjedana nestali. U 11 fetusa su nađene dodatne strukturalne anomalije. Trisomija 21 je potvrđena u 2 fetusa. Zaključak. IEF su »meki« ultrazvučni biljezi fetalne aneuploidije, često su prolazni, a nalaze se i u eukariotičnih fetusa.
Cilj: Istražiti arhitektoniku spavanja i disanja tijekom sna u djece s Downovim sindromom. Metode: Cjelonoćna videopolisomnografija (V-PSG) u skupini djece s Downovim sindromom i u onoj iz opće ...populacije odgovarajuće dobi i zrelosti. Rezultat: Analiza polisomnografskih parametara pokazala je da djeca s Downovim sindromom, u usporedbi s normativima u zdrave djece u općoj populaciji, odgovarajuće dobi i zrelosti, imaju značajno kraću latenciju spavanja (SL) p=0,007, kraće ukupno vrijeme spavanja (TST) p=0,004, nižu efikasnost spavanja (SE) p=0,010, manje NREM1 faze spavanja p=0,0002, manje NREM3 faze spavanja p=0,034, manje REM spavanja p= 0,034 (na račun više površnog NREM2 spavanja, ali ne statistički značajno, p=0,069) i da provode više vremena budni nakon započimanja spavanja (p=0,0002). Djeca s Downovim sindromom imaju značajno više opstruktivnih apneja i hipopneja po satu spavanja (viši OAHI) p=0,008, ali imaju manje centralnih apneja po satu spavanja (niži CAI) p=0,041, što pridonosi statistički neznačajno nižem ukupnom AHI-u (p=0,762) u djece s Downovim sindromom. Prosječno i najdulje trajanje apneja nije se značajno razlikovalo između dviju skupina. Djeca s Downovim sindromom su imala značajno niže i prosječne i nadir saturacije kisika (p=0,008 i p=0,001). Zaključak: Možemo prevenirati većinu respiratornih komplikacija u djece s Downovim sindromom podizanjem svjesnosti njihovih roditelja o poremećajima spavanja u te djece, ali i zdravstvenih djelatnika, te uključivanjem rutinske cjelonoćne videopolisomnografije u njihovo praćenje.
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