The prevalence of cytogenetic anomalies in children with congenital developmental defects (CDD)

The analysis of the cytogenetic anomalies frequencies in children with inborn defects of development was carried out, and the comparative evaluation of involving in cytogenetic anomalies of the individual chromosomes was determined. Chromosomes 9, 13 and 18 were most frequently involved in chromosomal anomalies. There no direct relations were revealed between peculiarities of inborn defects of development and definite cytogenetic anomalies.     

Dental and minor physical anomalies in children with developmental disorders--a discriminant analysis

A discriminant analysis was performed in a sample of 303 children with developmental disorders (DD) and 303 healthy controls (C) in order to test whether some oro-dental and physical minor anomalies could discriminate these groups of children. DD sample comprised 176 mentally retarded (MR) children. 70 children with impaired hearing (IH) and 57 children with impaired vision (IV). The control group included 303 healthy subjects, matched for sex and age. The analysis comprised seven common oral and dental anomalies: median diastema, hypodontia, impacted teeth, microdontia, dens invaginatus, upper lip frenulum and frenulum of the tongue. Minor physical anomalies were assessed by the method proposed by Waldrop et al., as the average number of minor anomalies per individual (W1) and as the weighted score of minor anomalies (W2). Three discriminant functions were obtained by analysis of nine initial variables. Distinct discrimination and considerable distances were found between the centroids of the controls and all groups of DD children. The first two discriminant functions were significant for discrimination between the groups and they explained 98.6% of the total variance. The first function contained 90.2% of information and was defined by the number and weighted scores of minor anomalies. The second variable explained 8.4% of the total variability and was defined by three dental anomalies. The results obtained by the discriminant analysis show that application of dental and minor physical anomalies enables discrimination between the group of healthy children and the groups of children with different developmental disorders.     

Satellite association patterns in postpartum women and in newborn infants

Different features of the satellite associations between the acrocentric chromosomes of 100 postpartum mothers, between 14 and 43 years of age, and 100 neonates (51 males and 49 females) from Puriscal, Costa Rica, were compared (400 cells were examined, 2 from each individual). Several types of satellite associations showed higher frequencies in the mothers than in the neonates. The associations most frequently found in the two groups were those of two chromosomes, followed by those of three chromosomes. The D/G ratio was 1.43 in the children and 1.40 in the mothers. The number of associations per cell in the mothers was almost twice that of the children. The mean number of acrocentric chromosomes per association was 2.2 in the children and 2.35 in the mothers. No significant difference was found between observed and expected values of D and G chromosomes in the two groups. Thus, the probable factors responsible for the increase of satellite associations in the mothers similarly influenced the two types of acrocentric chromosomes.     

EEG in Children: Periodometric Analysis,Typology, and Age Peculiarities

We carried out a computer analysis of the EEG of 169 healthy schoolchildren (6 to 17 years old) with the use of a periodometric approach allowing us to obtain a number of quantitative indices that characterize the temporal structure of the analyzed EEG segment (histogram of distribution of the frequencies of EEG oscillations within the analyzed time period, indices of the different rhythms, and matrix of the probabilities of conversion from waves of one frequency range to waves of other ranges). We demonstrated that data of the periodometric analysis can be used for objective classification of EEG patterns. In children of different age groups, five types of background EEG activity were classified and described; we also demonstrated that the intragroup frequencies of these EEG types vary in healthy children with age. We discuss the advantages and disadvantages of the periodometric analysis of EEG, as well as the prospects and expediency of use of this analysis in physiological studies and in clinics.     

Cranial computertomography in children with acute lymphatic leukemia (ALL) and non Hodgkin-lymphoma (NHL) after different methods of CNS-treatment

42 children with acute lymphatic leukemia (ALL) or non-Hodgkin lymphoma (NHL) were subjected to cranial computer tomography (CT). 4 groups were formed according to CNS therapy. Group 1: 18 children in complete first remission after CNS prophylaxis with intrathecal 198 Au-colloid and methotrexate were examined between 3 1/2 and 7 1/3 years after beginning of therapy. 15 patients had normal computer tomograms, only 3 children had slight anomalies. The quantitative assessment of the computer tomograms yielded normal results for all 18 children. Group 2: 8 children were examined before CNS prophylaxis. 1 child had a connatal septum pellucidum cyst, 4 children had no anomalies and 3 children slight anomalies. The deviations from normal in groups 1 and 2 should be physiological variations. Group 3: 6 children were examined between 10 months and 8 1/4 years after termination of prophylactic CNS-irradiation (18-22.5 Gy) in combination with intrathecal methotrexate. Normal findings were obtained for 2 patients only. The other children had distinct cortical, subcortical or cerebellar atrophies and calcification of stem ganglia. Neurological complications had temporarily appeared in one child after skull irradiation. Group 4: A CT was made of 10 children during or after meningosis leukemia. The children who had received 198 Au-colloid for CNS prophylaxis yielded no pathological CT results. Distinct cortical, subcortical and cerebellar atrophies or calcification of stem ganglia were found in children after one or two CNS irradiations. These CT investigations confirm the results published by other authors, i.e. that owing to an irradiation--cytostatic therapy of the children's brains CNS lesions can be found in the CT. Their prognosis can only be determined by longterm observations. CNS prophylaxis by means of intrathecal 198 Au-colloid and methotrexate does not lead to any pathological CT anomalies.     

Mosaic model for color vision

Color vision in man is based upon three different cone types, which are quite likely arranged in a semi-ordered array in the retina. The model proposes that this ordering is an inherent part of the genetic code that sets up the color vision mechanism, and that the specification for each cone type (red, green or blue) also includes a specification for its place in the larger structure of which it is a part. One possible positional mosaic for the three cone types is proposed, together with its degeneracies into anomalous (red-green) color mechanisms. Assuming only one fixed probability for a degenerate transition, the population frequencies for color anomalies predicted from the model agree closely with the observed frequencies.     

A study of some blood genetic characteristics of Bedouin and non-Bedouin Arabs of Jordan

Blood genetic markers were investigated in a sample of 111 Bedouin and 412 non-Bedouin male Arabs of Jordan. The frequencies of the ABO alleles were similar in these two groups, with a relatively high frequency of the O gene (0.63; 0.61). The frequencies of Rh genes were slightly different in these two groups, with a higher Ro and a lower r in the Bedouins. A sub-sample of a smaller size was investigated for the distribution of haptoglobin types, Tf subtypes and red-cell G6PD (glucose 6-phosphate dehydrogenase) phenotypes. There was no significant difference in any of the systems between the two populations. No haemoglobin variant was detected. The study confirms the Arab characteristics of Jordanians with a small degree of African admixture.     

Skeletal characterization of wild and reared zebrafish: anomalies and meristic characters

Among two groups of wild and reared zebrafishes (zf) Danio rerio, all meristic characters considered were variable except the numbers of rays and pterygophores of the dorsal fin and the principal caudal fin rays, which tended to be canalized. Wild and reared individuals differed in the number of intervertebrae and anal pterygophores, and the dorsal and anal fin insertion. There were some skeletal anomalies of vertebrae and fins, particularly the caudal fin. Cephalic and Weber-apparatus anomalies were rare. Types and frequencies of anomalies were quite similar in the two zf groups, but differences emerged for several less frequent anomalies. Such differences and the phenotypic variability of D. rerio make this species a perfect teleost model for investigating the influence of experimental or unfavourable environmental conditions on skeletal development of both domesticated and wild fish.     

Exoskeleton anomalies in taiga tick males from populations of the Asian part of Russia

Variation of the exoskeleton is described for 2630 males of the taiga tick Ixodes persulcatus Schulze, 1930 collected by flagging from vegetation in the Far Eastern, Siberian, and Ural Federal Districts of Russia. Two types of conscutum anomalies were found to be prevalent in all the samples. Exoskeleton anomalies were less frequently recorded in the Far Eastern Federal District than in the Siberian and Ural Federal Districts: 6.5 ± 1.05, 29.7 ± 1.03, and 25.8 ± 3.93%, respectively. The observed phenotypic variation seems to be unrelated to anthropogenic impact. In the meridional direction, the taiga tick samples with different frequencies of exoskeleton anomalies correspond to two races of the species.     

The C4 system

Summary The present study shows that the C4 system as investigated by high voltage agarose gel electrophoresis is highly polymorphic. In a series of unrelated Norwegian adults, where C4 types have been ascertained through segregation in families, six different haplotypes have been found to occur with a frequency exceeding 1%. The genotype frequencies in the population fit expected Hardy-Weinberg distribution. In family material comprising 89 matings with 327 children the distribution of offspring is as expected according to autosomal codominant inheritance of haplotypes.     

Mitochondrial genetic structure reflects the geographical variation of elytral polymorphism frequency in Cheilomenes sexmaculata (Coleoptera: Coccinellidae)

Many ladybird species are known to have an elytral colour polymorphism, which indicates geographical variation. The ladybird beetle Cheilomenes sexmaculata (Fabricius) exhibits elytral colour polymorphism and has expanded its distribution from 33°N to 36°N in Japan over 100 years since 1900. The mitochondrial COI gene haplotypes were integrated into two haplotype groups, with one group existing at higher frequencies in lower latitudes, the other group appearing at higher frequencies in higher latitudes. In addition, the dark morph types of this species increase with latitude, whereas the light types appear at higher relative frequencies in lower latitudes.In the present study, we first determined the morph types of individuals and examined the mitochondrial DNA COI gene. Second, we investigated the relationship between the genetic population structure based on the mitochondrial DNA COI gene and the morph types’ geographical variation. Results indicated that the mtCOI genetic structure was associated with the morph types by latitude; specifically, the haplotype group existing at higher frequencies in lower latitudes tended to be light morph types. In contrast, the haplotype dominant in higher latitudes more frequently exhibited dark morph types, indicating that dark morph types in the higher latitude genetic group may have led the distributional expansion toward higher latitudes since 1900 rather than the lower latitude light morph types.     

Nuclear anomalies in the buccal cells of calcite factory workers

The micronucleus (MN) assay on exfoliated buccal cells is a useful and minimally invasive method for monitoring genetic damage in humans. To determine the genotoxic effects of calcite dust that forms during processing, MN assay was carried out in exfoliated buccal cells of 50 (25 smokers and 25 non-smokers) calcite factory workers and 50 (25 smokers and 25 non-smokers) age- and sex-matched control subjects. Frequencies of nuclear abnormalities (NA) other than micronuclei, such as binucleates, karyorrhexis, karyolysis and 'broken eggs', were also evaluated. Micronuclei and the other aforementioned anomalies were analysed by two way analysis of covariance. The linear correlations between the types of micronucleus and nuclear abnormalities were determined by Spearman's Rho. There was a positive correlation between micronuclei and other types of nuclear abnormalities in accordance with the Spearman's Rho test. Results showed statistically significant difference between calcite fabric workers and control groups. MN and NA frequencies in calcite fabric workers were significantly higher than those in control groups (p < 0.05). The results of this study indicate that calcite fabric workers are under risk of significant cytogenetic damage.     

内蒙古6个人群舌运动类型研究

调查了2760例内蒙古中、西部区6个人群（鄂尔多斯蒙古族、伊盟汉族、锡林郭勒蒙古族、察哈尔蒙古族、乌拉特蒙古族、巴盟汉族）的卷舌、叠舌、翻舌、尖舌、三叶舌特征。研究表明：1）内蒙古西部区人群卷舌率、翻舌率、三叶舌率多低于内蒙古东部区人群;2）乌拉特蒙古族分别与另外3个蒙古族人群的叠舌率、尖舌率、三叶舌率存在显著性差异;3）5种舌运动类型的百分率不存在性别间的差异;4）卷舌与翻舌、卷舌与三叶舌、叠舌与翻舌、翻舌与尖舌存在着相关。叠舌与尖舌、叠舌与三叶舌、尖舌与三叶舌不存在相关。     

Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol

Maternal treatment with diethylstilbestrol (DES) during pregnancy can produce vaginal adenocarcinoma and other abnormalities of the vagina in her daughters when they reach adolescence or adulthood, miscarriages and absence of full term infants. Concerning malformations in newborns whose mothers were treated with DES, clitoromegaly and malformations of the uterus were reported in females and genital lesions in males. However, the frequencies of major congenital anomalies were not greater than expected. We report three cases of limb reduction defects (LRD) in the first generation of children whose mothers were treated with DES during pregnancy, and two children (one male, one female) with deafness in the second generation after intrauterine exposure to DES. The LRD were not associated with other congenital anomalies. The malformed children with LRD were born between 1965 and 1973. The deafness was also isolated. The two mothers who have no hearing problems and who are healthy were exposed in utero to DES in 1963 and 1965, respectively. Their children were born in 1989 and 1994, respectively. In conclusion, the association of LRD and hearing loss with intrauterine exposure to DES could be coincidental. However, some hypothesis may explain these associations. Congenital hearing loss in the second generation may suggest a transgenerational effect.     

Ethyl alcohol-induced cardiovascular malformations in the chick embryo

Chick embryos incubated for 72-80 hours were exposed to various volumes (0.20-0.40 m1/egg) of 50% ethyl alcohol. Examination of embryos at day 14 of incubation showed that higher doses of ethanol decreased the survival rate of embryos compared with control embryos. Three major categories of cardiovascular malformations were observed in this study: intracardiac anomalies characterized primarily by isolated ventricular septal defect, ventricular septal defect with overriding aorta, double outlet right ventricle or common aorticopulmonary trunk; aortic arch anomalies; and subclavian artery anomalies. Frequencies of embryos with intracardiac anomalies were equal to or greater than 64.8% in the six groups exposed to ethanol. Administration of ethanol also induced high frequencies of embryos with subclavian artery anomalies (11.2-89.1%). Absence or hypoplasia of the right and/or left secondary subclavian artery was commonly associated with persistence of the corresponding primary subclavian artery. Bilateral absence and/or hypoplasia of the secondary subclavian arteries was more common than unilateral anomalies, whereas absence of the left secondary subclavian artery was more commonly observed than an absent right secondary subclavian artery. No embryos in the two control groups combined (n = 94) demonstrated aortic arch or subclavian artery anomalies.     

Congenital anomalies and childhood cancer in Great Britain.

The presence of cancer and a congenital anomaly in the same child may be explained in certain cases by an underlying genetic abnormality. The study of these associations may lead to the identification of genes that are important in both processes. We have examined the records of 20,304 children with cancer in Britain, who were entered into the National Registry of Childhood Tumors (NRCT) during 1971-86, for the presence of congenital anomalies. The frequency of anomalies was much higher among children with solid tumors (4.4%) than among those with leukemia or lymphoma (2.6%; P < .0001). The types of cancer with the highest rates of anomalies were Wilms tumor (8.1%), Ewing sarcoma (5.8%), hepatoblastoma (6.4%), and gonadal and germ-cell tumors (6.4%). Cases of spina bifida and abnormalities of the eye, ribs, and spine were more common in children with cancer than among population-based controls. Future studies may be directed toward identifying the developmental pathways and the relevant genes that are involved in the overlap between pediatric cancer and malformation.     

The incidence of cone epiphyses and ivory epiphyses of the hand in Nigerian children.

Radiographs of the left hand of 594 children from Ibadan, Nigeria were inspected for skeletal anomalies to determine differences in the incidence of cone and ivory epiphyses for the rich and poor children and differences in incidence for four hemoglobin types. Ivory epiphyses ovvurred more often in children in the lower socio-economic class and children with hemoglobin AA. The cone epiphyses observed in Hb SS children were primarily a result of bone infarcts, while cones in children of other hemoglobin types appeared to be normal variants. The incidence of ivory epiphyses was higher in the Nigerian children than in American black children in the Ten-State Nutrition Survey. The incidence of cone epiphyses was much lower than those reported for other normal populations.     

Screening of patients at risk for 22q11 deletion

The aim of this study was to determine whether deletion 22q11.2 studies should become apart of a standardized diagnostic workup for selected groups of at risk patients. We prospectively investigated four cohorts of unselected patients referred because of 1) congenital heart defect (CHD), 2) palatal anomalies, 3) hypocalcaemia, 4) dysmorphic features suggestive of del 22q11.2. Fluorescence in situ hybridization analysis revealed deletion 22q11.2 in 9.4% (6/64) patients with CHD. From 18 patients referred because of the hypocalcaemia, six (33.3%) had 22q11.2 deletion. In the group of 31 children with dysmorphic traits, the diagnosis was confirmed in two (6.4%) patients. None of the 58 children with palatal anomalies showed evidence of 22q11.2 deletion. Conclusions: Testing for the 22q11.2 microdeletion can be recommended in all patients with conotruncal heart defects and in patients with hypocalcaemia. It should be also considered in patients presenting only with dysmorphic traits suggestive of del 22q11.2, while screening in patients with cleft palate is not warranted.     

Comparative analysis of the infant EEG at gestation term 30-42 weeks

The research involved comparison of characteristics of the power spectrum, index, coherence of the EEG at preterm and full-term infants of the first month of life. 6 groups of children are surveyed: (1) 30-32, (2) 33-34, (3) 35-36, (4) 37-38, (5) 39-40, (6) 41-42 weeks of gestation; each group consisted of 10 children. Capacity of delta frequencies was high in the 5th group. Capacity of theta frequencies was high in the 3rd group. The index of theta frequencies was high in the 2nd, 3rd and 4th groups. Capacity of alpha frequencies was hagh in the 2nd group. The index of alpha frequencies was high in the 1st, 2nd and 3rd groups. Indexes and of beta1- and beta2-frequencies were higher in the 1st, 2nd and 4th groups. The maximum quantity of coherent delta, theta and alpha frequencies was in the 6th group. In the 2nd group, in comparison with 5th group, were more coherent delta frequencies in the occipital and occipital-central areas. The results obtained show that the spectrum of capacity, indexes and coherence of the EEG depend on term of gestation at the moment of birth but this dependence has nonlinear character.     

The prevalence of minor physical anomalies in mentally retarded children

The prevalence of minor physical anomalies was examined in a sample of 109 children with idiopathic mental retardation (65 boys and 44 girls). Control group consisted of 246 healthy schoolchildren (123 boys and 123 girls) aged 8 to 12 years. A comparison was made between number of found minor anomalies per child (W1) and their Waldrop weight scores (W2) in healthy and mentally retarded (MR) children. The MR children were found to have a higher number of minor anomalies per child. In their group predominated those with four or more anomalies (56.9%), whereas among healthy children only 7.7% had four anomalies or more. In contrast to the high weighted score value (W2) of five or greater in 36.7% of MR children, it was absent in all control group subjects. There were highly significant differences between the MR and healthy children in the average value of the number of minor anomalies per child (W1) and in the average weighted score (W2). The average number of minor anomalies per child (W1) in MR and well children was 3.65 and 1.7, respectively. In MR children the average weighted score (W2) was 3.82, being 1.46 in healthy children. Our results suggest that common etiological factors, which had led to a physical and mental disorder, were active early in the development of MR children. The finding of high incidence of multiple minor anomalies in MR children indicates that genetic factors may play an important role in the etiology of the underlying disorder in the child group studied.