[Dependence of the circadian organization of heart rate regulation by prolonged musical sensory influence].

It's shown that prolonged acoustic sensory influence in the form of classic music may change neurovegetative control of heart rate, enhancing the parasympathetic influences on heart rate variability, especially in night. These alterations increase expression of diurnal rhythm of ergotropic and trophotropic systems activity and lead to normalization of circadian profile of heart rate.

[Incidence of developmental defects in human embryos in the territory of Byelarus after the accident at the Chernobyl nuclear power station]. / Chastota porokov razvitiia u émbrionov cheloveka na territorii Belorussii posle avarii na Chernobyl'skoi AES.

The incidence of developmental abnormalities (DA) among 5 to 12-week human embryos collected in Minsk during abortions before the Chernobyl' accident was compared to that in Minsk, Mogilev, and southeastern districts of Gomel' and Mogilev regions before and after the accident. The incidence of DA among human embryos from the most radionuclide-contaminated rural regions of Byelarus exceeds that of the control group and of the urban population after the Chernobyl' accident by a factor of 1.5-2. The mutagenic effect of irradiation is the most probable cause of the increased DA frequency. These data suggest that recording of DA in embryos obtained by medical abortions is a new promising approach to the monitoring of genetic consequences of irradiation in human populations.

von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.

We report 4 cases and review 7 from the literature with a pattern suggesting a variable early lethal multiple congenital anomaly syndrome. This was first reported by von Voss et al. [1979: "Klinische Genetik in der Pädiatrie," pp 70-74] and Cherstvoy et al. [1980: Lancet ii:485], and can affect upper limbs, face, brain, heart, lungs, urogenital and gastrointestinal systems, vertebrae and ribs, and can include thrombocytopenia. The initial cases had occipital encephaloceles and phocomelia, but milder cerebellar anomalies and radial ray defects may be seen instead. Both sexes are affected and parental age is not increased. This may be heterogeneous, but two consanguineous families, one with recurrences, suggest autosomal recessive inheritance in at least some instances, although the recurrences had milder brain findings than the other cases. The original designation of DK-phocomelia syndrome is inaccurate, since arm findings may be limited to radial anomalies; we suggest instead the von Voss-Cherstvoy syndrome. This may be heterogeneous, but at present, phenotypic overlap prevents differentiation of subgroups. The disorder appears to be part of a group of syndromes with radial and hematologic abnormalities.

First-trimester diagnosis of duodenal stenosis associated with oesophageal atresia.

Duodenal stenosis associated with oesophageal atresia was diagnosed by ultrasound at 12 weeks' gestation. The diagnosis was made by recognition of a double bubble sign which was more pronounced when a vaginal transducer was used. Post-abortion autopsy confirmed the diagnosis. Oesophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha-fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation.

[Pathomorphologic verification of the prenatal diagnosis of developmental defects in trimester II fetuses]. / Patomorfologicheskaia verifikatsiia prenatal'nykh diagnozov porokov razvitiia u plodov II trimestra.

153 foetuses were studied obtained after the artificial abortion for genetical indications. The scheme of the material investigation is given. Isolated, systemic and multiple defects were found in 39.0, 12.1 and 48.9%, respectively, and the contribution of the syndrome forms in the multiple developmental disturbances was 60.9%. The interruption of the pregnancy in 2% of cases was assessed as unfounded: as a consequence of hyperdiagnosis and in cases of treatable defects. The frequency of the discrepancy between prenatal and pathology diagnoses was 31.8% including hyperdiagnosis of the defect (1.3%), nosological disagreement (13.3%), the lack of diagnosis of the additional defects detectable during II trimester by present ultrasound methods (17.2%). The efficacy of the work of the prenatal diagnostic centre is, according to the authors, the number of justified interruptions of pregnancy (98% in this study).

Which brain defects accompany cyclopia?

We report a fetus with an association of cyclopia without proboscis, aprosencephaly and agnathia. Analysing literature cases and the case presented here we can suggest that: 1) not only alobar holoprosencephaly but also more severe forebrain anomalies can be a brain equivalent of cyclopia; 2) aprosencephaly can be viewed as the earliest known variant of prosencephalic series; and 3) "agnathia-holoprosencephaly" association is etiologically heterogeneous.

Renal-hepatic-pancreatic dysplasia and its variants.

A family is reported, in which two pregnancies resulted in the birth of a female fetus with multiple congenital anomalies, including renal cystic dyplasia, pancreatic fibrosis with dilated pancreatic duct, and some anomalies of the face and genitalila. The pathology of the second fetus was revealed by prenatal ultrasonographic examination. In the relevant literature 20 additional cases of renal-hepatic-pancreatic dysplasia (RHPD) could be found. It is demonstrated that cystic renal dysplasia associated with pancreatic fibrosis or cystofibrosis (with normal liver) as well as cystic renal dysplasia associated with hepatic fibrosis (with normal pancreas) should be considered as incomplete RHPD variants. In 6 cases out of 22, the infants had some features of the apolysplenia complex, including situs inversus and/or heart defects. The association of RHPD and apolysplenia has been proved to be an autosomal recessively inherited syndrome. Most probably RHPD without apolysplenia represents a separate entity with autosomal recessive mode of inheritance as well.

[The prospective directions of research in teratology]. / Perspektivnye napravleniia issledovanii v teratologii.

Unsolved problems of modern teratology are discussed. The monitoring of the congenital malformation incidence is one of the variants of evaluation and control of the mutation pressing in the population. The investigation of human foetuses obtained in artificial abortions may be very helpful in this respect. The investigation of the phenotypical manifestations of malformations in the human prenatal ontogenesis and the use of the results for the creation of notion on the malformation morphogenesis seems to be perspective. The definition of the tissue dysplasias and their classification (dystopia, dyssynchronia, hamartomas) are given. The issue of the tissue malformations during the postnatal development is not similar. They may be asymptomatic, or to disturb the function of the organ concerned, or to predispose to chronic inflammation or neoplastic growth.

[Pathology of developmental defects of the digestive system in human embryos]. / Patologicheskaia anatomiia porokov razvitiia pishchevaritel'noi sistemy u zarodyshei cheloveka.

Total incidence of the alimentary system defects was 1.05 +/- 0.12% in the non-selected material of medical abortions performed at 5-12 weeks of the intrauterine development. Atresia and stenosis of the duodenum are described for the first time in the embryos of the above age, the possibility of differential diagnosis between physiological and pathological atresia is established. The connection between the ducts of the ring-like head of pancreas and ductus choledochus is observed thus confirming the hypothesis of the additional pancreatic part developing from the ventral anlage. Diagnosis of Mekkel's diverticulum became possible beginning from stage 17. The existence of atresia, stenosis and gastro-intestinal tract doubling in the embryos of the above age indicate that at least some of these defects are not connected with a secondary damage of the intestinal tube due to circulation disturbances, recanalization or inflammation but represent a primary developmental anomaly arising in the early ontogenesis.

[Prenatal diagnosis of triploidy by transabdominal aspiration of chorionic villi]. / Prenatal'naia diagnostika triploidii pri transabdominal'noi aspiratsii vorsin khoriona.

A case of triploidy identified in second trimester fetal diagnosis is presented. Cytogenetic study was undertaken in chorionic willi obtained by transabdominal placentocentesis. The diagnosis was confirmed by cytogenetic analysis of cultured amniotic fluid cells. The observation was revealed within a programme of combined ultrasound and cytogenetic prenatal monitoring, in association with maternal age. The fetus aborted at 23 weeks of pregnancy was abnormal, including congenital malformations and hypoplasia of internal organs and placenta.

[Changes in the protein spectrum of human kidney anlagen]. / Izmenenie belkovogo spektra zachatkov pochki u cheloveka.

Extracts of metanephros were studied using two-dimensional electrophoresis in human embryos at the age of 7 to 21 week of intrauterine development. Electrophoregrams show 160 to 190 protein fractions. Fractions have been identified which corresponded to actin, albumin, alpha-chain of tropomyosin, light chains of myosin. The tropomyosin zone fractions were subject to greatest changes during development. Other zones of the embryonic kidney electrophoretogram displayed, predominantly, quantitative changes of polypeptides.

[Skeletal anomalies in the VATER syndrome in human embryos]. / Anomalii skeleta pri sindrome VATER u zarodyshei cheloveka.

Anomalies of the skeleton and internal organs have been described in 9- and 12-week-old human fetuses with the VATER syndrome. Together with the known anomalies occurring at the syndrome, certain anomalies in development of the skin, tarsus and wrist bones are revealed.

Partial trisomy 5q and partial monosomy 5q within the same family.

The observation of partial trisomy for 5q31-5qter and partial monosomy for the same segment in two offspring within the same family is presented. Their normal mother was a balanced carrier of a reciprocal translocation 46,XX,t(5;10) (q31.3;q26). The trisomic female had craniofacial dysplasia, a short neck, clinodactyly of the 5th fingers, a small umbilical hernia, arhinencephalia, cerebellar hypoplasia, atrial septal defect, an accessory spleen, bifid uterus and vagina, hypoplastic ovaries. Potter syndrome with cystic dysplasia of the left kidney and agenesis of the right, urethral atresia, uterus unicornus with utero-urethral fistula, true hermaphroditism with two ovaries and one testicle were found in her stillborn sister. Analysis of the manifestations of monosomy 5q and trisomy 5q in the same family supports a well known fact that the effects of deletions are more pronounced than those of duplications for the same segments.

Pancreas annulare in human embryos.

2 cases of pancreas annulare with duodenal stenosis were found among 3,307 induced abortuses of 5-12 weeks where the pancreatoduodenal area was available for examination. This corresponds to a 0.06% incidence, greatly exceeds the occurrence of the anomaly in neonates and suggests partial prenatal elimination of embryos with pancreas annulare and duodenal stenosis. Microscopic examination of serialed embryonic sections gives evidence of (1) the origin of the ring from the ventral anlage; (2) the underdevelopment of the ring material, which later may cause fibrosis of the annulus, usually observed in neonates; (3) the origin of duodenal stenosis in case of pancreas annulare till 8 weeks of fetal life; (4) the development of such stenosis not only due to atrophy of duodenal segment, resulted from compression by the pancreatic ring, but also due to anomalous differentiation of intestinal segment, the cause of which may be the disturbance of morphogenetic correlations.

Atresia, stenosis and duplication of the gastro-intestinal tract: consideration of their origin.

Malformations of the intestinal tube were studied in 220 infants and in 15 human embryos. Comparison with data in the literature allowed that atresias, stenoses and duplications of the gastrointestinal tract result from some primary morphogenetic disturbance in early gestation more often than from a failure of recanalization, interference with blood supply in fetal life, or from enteritis or peritonitis. This is based on the association of these defects with chromosomal abnormalities (trisomies, partial monosomies, etc); association with malformations which cannot be explained by secondary lesions; the finding of oesophageal stenosis in 6 week-old embryo prior to the stage of epithelial proliferation; the lack of vascular disturbance in cases of the "apple-peel" syndrome and persistence of intramural ganglia in affected segments of bowel.

The Wolf-Hirschhorn syndrome. II. Pathologic anatomy.

Most cases of Wolf-Hirschhorn syndrome occurring among children who die during the perinatal period are not diagnosed by morphologists. However, analysis of the morphological data on the Wolf-Hirschhorn syndrome revels that association of typical external features and abnormalities ofthe brain (shortening of the H2 area of Ammon's horn, dystonic dysplastic gyrae in the cerebellum), eyes (colobomata, microphthalmos, retinal dysplasia) and kidneys (bilateral or unilateral agenesis, cystic dysplasia or polycystosis) with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.

Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.

We report on a postnatally dead, postterm male infant with aprosencephaly and the oculofacial manifestations usually seen in the most severe form of alobar holoprosencephaly -- namely cyclopia and absence of derivatives of the frontonasal process; in addition the infant had the radius aplasia field defect bilaterally, a high VSD, mobile cecum, and penile hypospadias with cryptorchidism. The same syndrome was reported recently by Garcia and Duncan [2]; however, in that case the brain defect was designated "atelencephaly." Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as "the aprosencephaly (XK) syndrome." Atelencephaly and aprosencephaly may occur also as a single and sporadic malformation. The cause of the aprosencephaly (XK) syndrome is unknown.