Selenium Transfer from Secondary Phosphine Selenides to Aminoacetylenic Ketones: Access to 1,2-Dihydro-3-pyrrole-3-selones with a Stable C═Se Bond.

Secondary phosphine selenides were found to react with γ-aminoacetylenic ketones (80-85 °C, MeCN, 17-40 h) to afford 1,2-dihydro-3-pyrrole-3-selones in 48-80% yields, products of unprecedented selenium transfer from the P═Se bond to replace the carbonyl oxygen and to form dihydro-3-pyrrole-3-selones having a C═Se bond stable under ambient conditions.

Common pathogenesis of early and late preeclampsia: evidence from recurrences and review of the literature.

Objective: To investigate whether there is an association between the gestational age at the onset of preeclampsia in recurrent cases and the gestational age at the onset of preeclampsia in previous pregnancies.

Methods: This retrospective nested case-control study was designed to investigate whether gestational age at diagnosis and at delivery in recurrent cases of preeclampsia correlates with gestational age at diagnosis and delivery in the previous cases of preeclampsia in the same individuals. The database of a Ukrainian research network was used to find patients with the diagnosis of preeclampsia between 2019 and 2021.

Cholelithiasis is an additional pre-pregnancy clinical risk factor for preeclampsia.

Purpose: To investigate additional potential clinical risk factors for preeclampsia.

Methods: This is a nested case-control study of preeclampsia and unaffected pregnancies. Cases were either from a prenatal screening database or from a national network of clinicians, and controls were from the same prenatal source.

PREGNANCY OUTCOMES IN WOMEN WITH EXTREMELY HIGH SFLT-1/PIGF RATIO: CASE SERIES.

Preeclampsia (PE) is a multisystem disorder, usually defined as the development of hypertension and proteinuria after 20 weeks of pregnancy. The sFlt-1/PlGF ratio has been widely studied as a diagnostic and prognostic marker of preeclampsia and other manifestations of placental dysfunction. A sFlt-1/PlGF ratio greater than 85 for early PE, <34 weeks of gestation suggests a high risk of PE requiring close clinical monitoring.

Maternal weight as an additional first trimester spina bifida screening marker.

Objective: To evaluate first trimester maternal weight as a spina bifida screening marker.

Methods: Case-control study of spina bifida and unaffected pregnancies; cases were from national records and controls from women referred to prenatal screening centers in the Ukraine. The median and inter-quartile range of weight, body mass index (BMI) and the obesity rate (BMI ≥ 30 kg/m) were compared.

QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe.

Study of parental/meiotic origin of free trisomy 21 in nuclear families from Russia (70 cases), Ukraine (32 cases), and 22 from Germany revealed maternal nondisjunction in 77.3% (Germany), 93.8% (Ukraine), and 91.

Frequency and clinical consequences of extremely high maternal serum PAPP-A levels.

A multicentre study was carried out to determine the frequency and clinical consequences of extremely high maternal serum pregnancy-associated plasma protein (PAPP)-A. There was a total of 79 pregnancies with PAPP-A exceeding 5.0 multiples of the gestation-specific median in a series of 46 776 pregnancies tested (0.

Frequency of Down's syndrome and neural-tube defects in the same family.

Background: There is evidence that some mothers of infants with Down's syndrome have abnormal metabolism of folate and methyl, as well as mutations in folate genes, which are features that are also seen in neural-tube defects (NTD). We therefore investigated whether Down's syndrome and NTD arise more often in the same family than would be expected from the incidence of each disorder considered separately.

Methods: We studied two series of families using information obtained from medical records about maternal age, pregnancy outcome, congenital malformations, and karyotype: the first, 493 families from Israel who were at high risk of NTD (445 with a history of NTD and 48 with isolated hydrocephalus); and the second, 516 families from the Ukraine at high risk of Down's syndrome.

Mitochondrial dysfunction and Down's syndrome.

Neither the pathogenesis nor the aetiology of Down's syndrome (DS) are clearly understood. Numerous studies have examined whether clinical features of DS are a consequence of specific chromosome 21 segments being triplicated. There is no evidence, however, that individual loci are responsible, or that the oxidative damage in DS could be solely explained by a gene dosage effect.

Familial Down syndrome: evidence supporting cytoplasmic inheritance.

The frequently observed familial aggregation of Down syndrome (DS) 47,+21 and other aneuploidies and the phenomenon of double aneuploidy involving DS cannot be accounted for by chance alone. To clarify possible aetiological factors, pedigrees from all 7 affected families with repeated marriages referred to two regional genetics centres were examined. In each case the recurrence of aneuploidy was on the mother's side (p<0.

Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.

Despite the increasing number of reports of families with hearing impairment and mitochondrial DNA (mtDNA) mutations, the frequency of these mutations as causes of non-syndromic sensorineural hearing impairment (NSSHI) remains unknown. Mutations such as A1555G, A7445G and 7472insC have been found in several unrelated families implying they are more frequent than initially thought. We describe a family with NSSHI due to the presence of the homoplasmic mtDNA A7445G mutation in the tRNASer(UCN) gene.

The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective.

A genetic perspective of human history in Europe was derived from 22 binary markers of the nonrecombining Y chromosome (NRY). Ten lineages account for >95% of the 1007 European Y chromosomes studied. Geographic distribution and age estimates of alleles are compatible with two Paleolithic and one Neolithic migratory episode that have contributed to the modern European gene pool.

[The use of oxidant-antioxidant system indices in forming groups at high genetic risk].

While studying the pathogenetic mechanisms of Down syndrome, the imbalance of oxidant-antioxidant system in donors of extrachromosome 21 was detected. This fact was a basis for screening of new prenatal biochemical markers of Down syndrome. The ratio of free radical processes intensity and SOD activity was found as most informative index reflecting the state of oxidant-antioxidant system.

[The biochemical marker dynamics of the maternal serum in different chromosomal disorders of the fetus].

The reasons for false-positive results of Down syndrome screening have been analysed. It has been found that the family pericentric inversions of chromosome 9 in fetus are accompanied by AFP and HCG changes equal to Down syndrome pregnancies. The average marker's levels in cases of per inv (9) were: AFp-0.

[The prenatal diagnosis of Down's syndrome based on the biochemical screening of maternal serum markers].

The role of maternal alpha-fetoprotein and chorionic gonadotprin screening in complex prenatal diagnosis of Down syndrome had been studied. The average markers' values in cases of fetus trisomy 21 were 0.67 MoM (AFP) and 2.

[The age-dependent incidence of Down's syndrome and the free-radical theory].

Age-dependent distribution of Down syndrome frequency in the light of free-radical theory of aging was carried out in this work. The frequency of Down syndrome had been analysed during the period of 1990-1995. The investigation of radical process intensity was performed in the group of women of child-bearing age by the chemoluminescence method.

[Free radicals in the origin and clinical manifestation of Down's syndrome].

The high level of free radicals and antioxidant protection disbalancing cause the chromosome nondisjunction in meiosis, appearance of trisomy 21 and fetuses with Down's syndrome, age-dependent pathology, of parent's mosaic clone, clinical manifestations of the syndrome, diseases in relatives, recurrent cases of trisomy 21. The comparative analysis of clinical traits of Down's syndrome and pathological changes in families with after-effects of radiation exposure was carried out. The factors causing an increase in the level of free radicals were considered.

[The formation of risk groups and the performance of invasive prenatal diagnosis].

The results of the formation of women risk groups for invasive methods of prenatal diagnosis and cytogenetic investigations of amniotic fluid are presented. It was shown that the efficiency of prenatal diagnosis was increased due to the complex use of ultrasonography, screening for alpha-fetoprotein and chorionic gonadotropin, and invasive methods of prenatal diagnosis.

[The use of the screening of maternal serum factors for the prenatal diagnosis of fetal developmental defects and chromosomal diseases].

The association of the levels of alpha-fetoprotein and chorionic gonadotropin with congenital developmental defects and chromosomal abnormalities of fetus was studied. The correlation of elevated level of alpha-fetoprotein with defects of neuraxis, kidney and abdominal wall of fetus was shown. These data are used for screening of women with a high risk for Down's syndrome and other chromosomal abnormalities.

[The role of mitochondrial DNA in the origin of regular trisomy 21].

Hypothesis about cytoplasmic heredity and the influence of mitochondrial DNA mutations on the pathogenesis of 21 trisomy has been suggested. It explains the association of increased risk of trisomy with the maternal age, malignant diseases, autoimmune processes, other pathologies and with the origin of paternal 21 chromosome.