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Biomedical subjects

K Méhes

Publications and source records attributed to K Méhes.

At least 19 recordsLinked to original sources
PubMed1992

[Comparison of human milk with 3 different types of infant food in the nutrition of full-term neonates].

Healthy, term infants who were either breast-fed, or received conventional formula (Mildibé, EGIS; Pre-Aptamil, Milupa), or a formula containing hydrolyzed proteins (Aptamil H. A., Milupa) were investigated. Each group consisted of 10 infants who were fed ad libitum. Somatic development (gain in weight, length and head- and chest circumferences), serum Ca and P levels, alkaline phosphatase activities and basic biochemical parameters of protein metabolism (serum total protein, albumin, uric acid, creatinine and urea nitrogen levels) were determined at the ages of 2, 4 and 8 weeks. Anthropometric measurements did not reveal considerable differences between the groups investigated. At the age of four weeks, serum calcium levels were significantly higher in the breast-fed infants than in those receiving formula. Both at the ages of four and eight weeks, serum total protein levels were significantly lower in the infants receiving the formula consisting of hydrolyzed proteins than in the breast-fed controls. No difference of considerable extent was seen in the other biochemical parameters measured. The results obtained indicate that, in the lack of the possibility of breast-feeding, all the three formulae investigated can be used as substitute of breast milk.

Breast Feeding↗
PubMed1992

A possible mosaic form of delayed centromere separation and aneuploidy.

On average, a "normal" centromere separation sequence was seen in 3 neonates with trisomy 18 and in their parents. When evaluating individual mitoses, unusually late separating chromosomes 18 were found in a few cells of one of the parents in each family. A possible germline mosaicism of delayed separation in the parent may account for trisomy in the offspring.

Aneuploidy↗
PubMed1991

Inherited ring chromosomes: an analysis of published cases.

A review of case reports on patients with ring chromosome revealed 30 individuals (plus two fetuses) who inherited the ring from a total of 23 carrier parents (21 mothers and 2 fathers). The proportion of cases with inherited rings, among all patients with a ring, was calculated to be 5.6% as an upper limit. However, because of a propable difference in survival and fertility between individuals with transmitted and do novo rings, and because of the preferential publication of cases involving inherited rings (and thus a publication bias), the proportion of inherited rings should in reality be no more than 1%. Out of 30 transmitted rings, there were 9 where parent and child were both mosaics, suggesting an inherited instability of the chromosome involved leading to de novo re-formation of the ring in the second generation. The relatively mild clinical manifestations of ring chromosomes, in general, was found to be even more striking in familial cases. In half of the offspring the phenotype was very similar to that of the parent. However, in about a third of cases the offspring were more severely (mentally) affected. This fact should be considered in genetic counseling of clinically normal women who carry a ring chromosome.

Female↗
PubMed1991

Dysmorphology in children with congenital metabolic disorders.

The prevalence of minor morphological aberrations was evaluated in 54 children with various congenital metabolic disorders. Similarly to major malformations, minor malformations were not more common in the patients than in our control population. The dysmorphic appearance of some of the affected children was caused by minor variants that arose after organogenesis.

Child↗
PubMed1991

Balanced chromosome rearrangements and abnormal phenotype.

Analysis of the results of 3411 routine cytogenetic examinations initiated by abnormal phenotype or family history revealed that out of 44 cases with balanced structural aberration 12 patients had an abnormal phenotype. Of the 12 cases, there were four reciprocal translocations, three Robertsonian translocations, and five pericentric inversions. Eight rearrangements were inherited, one had occurred de novo, and three were of unknown origin. Each carrier parent was apparently healthy. In all of the four cases with reciprocal translocation the rearrangements were of paternal origin. None of the clinical abnormalities could be assigned specifically to the breakpoints. Explaining the association of balanced chromosomal rearrangement and clinical abnormalities, possibilities of causal relationship and by chance coincidence are discussed.

Chromosome Aberrations↗
PubMed1990

[Current interpretation of mosaicism].

The development of cytogenetics and molecular genetics suggests a greater than expected importance of chromosomal, somatic and germ-line mosaicism. Mosaicism may cause varying expressivity of inherited diseases, aggregation of disorders regarded as "new mutations" in ostensibly healthy families, and neoplasia. Detection of latent parental mosaicism may enhance the prevention of abnormal offsprings. In clinical genetics this difficult problem may be solved from two approaches: 1. More thorough cytogenetic investigation of parents of children with chromosome aberrations. 2. Seeking for mild features of congenital disorders. The authors provide examples for these two possibilities from their own findings. Their family investigations suggest that an out-of-phase centromere separation may result in aneuploidy of the offspring even if it occurs in mosaic form in a part of the cells. At the same time, detailed investigation and anthropometric measurements of the parents of 28 children with multiple malformation syndromes revealed characteristic signs in at least one of the parents in 8 families. Among other factors also parental mosaicism should be taken into account, which should be considered in genetic counseling.

Abnormalities, Multiple↗
PubMed1990

Premature centromere division of a translocation-carrier autosome.

Premature centromere division of an aberrant chromosome 3 was found in a newborn girl with fetal hydrops and in her healthy father, both bearing a familial "balanced" 3p;19q translocation. The out-of-phase separation of a structurally abnormal chromosome may be of pathogenetic significance, the nature of which is not yet understood.

Adult↗
PubMed1990

Minor morphological aberrations in children with isolated urinary tract malformations.

The prevalence of 54 minor morphological aberrations (MMAs) (mild malformations, dysplasias, deformities and phenogenetic variants) was determined in 138 children with isolated malformations of the urinary tract and in 32 patients with multiple major birth defects including renal malformations. Children with infectious diseases matched to each patient by sex, age and ethnic origin served as controls. The overall prevalence of MMAs--expressed as MMA/subject ratio--proved to be significantly higher in patients with multiple malformations (2.50) than in those with isolated renal abnormalities (0.80) and in controls (0.76). The difference between the latter two groups was not significant. Apart from characteristic patterns of well-defined syndromes, the only specific association found was the higher prevalence of supernumerary nipples in patients with isolated (and hidden) urinary tract abnormalities of various types (9.4% versus 1.8% in controls; P less than 0.005).

Abnormalities, Multiple↗
PubMed1990

Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism?

The ostensibly normal parents of 27 probands with recessive or sporadic multiple malformation syndromes were reexamined. By means of careful investigations and anthropometric measurements in nine of them, morphologic variants were found that were compatible with the syndromes and were also observed in the proband. Although other factors should also be considered, the findings may be explained by germline and somatic mosaicism in the parents.

Abnormalities, Multiple↗
PubMed1990

Passive smoking in utero: no objective morphogenetic changes in the neonate.

The relationship between smoking during pregnancy and minor morphogenetic and anthropometric variants of the fetus was investigated in a case-control study. Sixty infants of mothers admitting to have smoken more than 20 cigarettes a day during pregnancy were matched to 120 infants of non-smoking mothers. No differences in the prevalence of 54 informative morphogenetic variants and in the values of 31 anthropometric measurements and indices were found.

Abnormalities, Drug-Induced↗
PubMed1990

[Morphogenetic variants in parents of children with recessive malformation syndromes].

Informative morphogenetic variants (minor congenital anomalies) were investigated and anthropometric measurements were carried out in 17 apparently healthy mothers and fathers (parents) of 10 children with various, presumably autosomal recessive, multiple malformation syndromes. In 4 of them mild but characteristic features of the syndrome of their affected offspring could be identified. This was particularly conspicuous in the mother of a child with Dubowitz syndrome. A more thorough examination of the parents and siblings is urged for the sake of correct determination of inheritance.

Abnormalities, Multiple↗
PubMed1989

[Computer survey of the rehabilitation data and social conditions of children with motor disabilities in Györ-Sopron and Baranya Counties].

To investigate the occurrence of motor disability a pilot study was carried out in the total children's population of Györ-Sopron county and in 57% of the children of Baranya county by computer-based questionnaires. The data of the 492 motor handicapped children were analysed by 55 computer programs. These programs are constructed for the analysis of the somatic and mental health, schooling, rehabilitation possibilities, social background, care of these children and their further needs for specialists and institutions. This procedure is suitable for national and longitudinal data collection and for the complex registration of the status of these children.

Adolescent↗
PubMed1989

Centromere separation sequence in human chorionic cells.

The sequence of centromere separation in human chorionic cells was analyzed in two laboratories. Despite of certain interexaminer variations, in both series chromosomes 18, 2, 12, 4, 5, 17 and X proved to be early dividing and the acrocentrics were the last to separate. The pattern was very similar to those observed in other human tissues, which reflects a species-specific sequence of centromere separation.

Adult↗
PubMed1989

Hypercalciuria in children with diabetes mellitus.

Seventeen of 75 diabetic children without nephropathy had urinary calcium excretion of more than 4 mg/kg/day. Neither diurnal variation in calciuria, nor correlations between calcium excretion and glucose excretion as well as HbA1 levels were observed. The findings suggest that about one quarter of diabetic children is at risk for hypercalciuria and may be for renal damage due to hyperexcretion of calcium.

Adolescent↗