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Biomedical subjects

P Kiss

Publications and source records attributed to P Kiss.

At least 73 records · Page 4Linked to original sources
PubMed1981

[Cytogenetic investigations in 817 dysmorphic babies].

By means of G-, C-, and Q-banding techniques 817 dysmorphic children under 1 year of age were cytogenetically investigated. 184 cases of Down's syndrome, 54 cases of various numerical or structural autosomal aberrations, and 29 cases of gonosomal aberration were discovered. The criteria of dysmorphia are the following: intra-, and/or extrauterine retardation, occurrence of minor and/or major malformations, dysfunction of the central nervous system, and the ambiguity of the external genitals, respectively. The proper evaluation of the dysmorphic signs markedly increases the efficiency of the cytogenetical studies. According to the results, the principles applied in 16 patients the background of the dysmorphic features of a pericentric inversion of chromosome No 9 could be disclosed. This phenomenon earlier regarded as polymorphism or normal variant seems to be playing an important role in the etiology of unspecified dysmorphic syndromes. The early detection of a chromosomal aberration ensures the correct judgment of the diagnosis and the prognosis of the patient and by tracking down the carrier family members helps in the prevention, too.

Chromosome Aberrations↗
PubMed1981

Decreased carbohydrate content of rat plasma apolipoproteins in galactosamine hepatitis.

The total carbohydrate content and the monosaccharide composition of plasma apolipoproteins isolated from normal and D-galactosamine-treated rats were investigated. In the lipoprotein classes VLDL, LDL and HDL of control animals, the carbohydrate content was 5,5%, 3,4% and 2,9% of dry weight apolipoprotein, respectively. 24 h after galactosamine treatment, these values dropped to 1.8%, 1.6% and 2.3%. The reduction of the carbohydrate content in VLDL and LDL was mainly due to a decrease of the following monosaccharides: Mannose, galactose, N-acetylglucosamine and sialic acid. Minor changes were observed in the fucose, glucose and N-acetylgalactosamine content. Particularly, the mannose/galactose ratio in the LDL fraction fell from 2.3 in control animals to 1.0 in the galactosamine-treated animals. In another series of experiments, the time course of these carbohydrate alterations in the LDL apolipoprotein was studied. As early as 3 h after galactosamine application, we found a reduction of the mannose, galactose and N-acetylglucosamine levels, with the absolute minimum at 24 h, and later on a normalization at 48 and 72 h.

Acetylglucosamine↗
PubMed1981

Intracerebroventricular angiotensin II injection does not elicit specific appetite for sodium in the rat.

The effect on sodium appetite of a single intracerebroventricular (IVT) injection of 1 microgram angiotensin II (AII) was studied in 264 young female CFY rats, comparing control and water depleted groups. The choice of demineralized water and 0.9, 2, 3 and 4% NaCl solution or 0.9% NaCl and 5% glucose solution was offered to the animals. During the 12-25 minute long dipsogenic action of AII, sodium intake was significantly increased as compared to the control group. Together with sodium intake water and glucose intake was found to increase proportionally, so the sodium appetite did not change significantly. At the same time, AII significantly increased the rate of sodium intake and the sodium appetite when a choice of water and NaCl was offered, and the basis of comparison was the water depleted group. When water was changed for 5% glucose, the animals receiving AII showed no significant sodium appetite, and drank so much glucose solution that their blood glucose increased to 202 +/- 26 mg/dl, and glucose appeared in their urine. The conclusion was drawn that AII does not cause an acute, specific alteration in sodium appetite.

Angiotensin II↗
PubMed1978

Structural studies on the immunogenic form of the enterobacterial common antigen.

It has been shown that enterobacterial common antigen is chemically linked to the hexose region of the R1-type lipopolysaccharide fo the Escherichia coli strain F470 which is immunogenic for this antigen. The number of R core stubs substituted is very small but it is a-parently sufficient to induce antibody formation to the enterobacterial common antigen in the rabbit.

Acetylglucosamine↗
PubMed1978

A hitherto undescribed case of "collision" tumour: liposarcoma of the seminal vesicle and prostatic carcinoma.

A hitherto undescribed type of the rare "collision" tumours is reported: necropsy in a 77-year-old male patient revealed liposarcoma of the right seminal vesicle in association with anaplastic carcinoma of the prostate. The carcinoma was fused with the liposarcoma as a result of its invasive local growth and had formed deposits in the lymph nodes, bones and lungs. The left seminal vesicle showed localized amyloidosis. A review of the published cases of mesenchymal tumours of the seminal vesicles is presented.

Aged↗
PubMed1978

[Acrodermatitis enteropathica (author's transl)].

In connection with the clinical observation of their five patients suffering from AE the authors summarize current questions related to this disease. They examined the function of the cellular immunity in this disease. They call attention to dangers of oxychinoline treatment, and to benefits of zinc administration. They established that the introduction of zinc therapy indicates a progress in the treatment of AE.

Acrodermatitis↗
PubMed1978

Mild variant of maple syrup urine disease.

The case of a three-year-old boy with mental retardation, moderate muscular hypotony and speech delay is presented. The mild form of maple syrup urine disease was suspected at the first blood screening test by means of ion-exchange thin-layer chromatography. The diagnosis was confirmed by quantitative serum amino acid analysis and protein loading. On a low protein (2 g/kg body weight) diet completed with leucine-isoleucine-valine free formula prompt and lasting normalization of the serum amino acid level ensued with steady improvement of the clinical and neurological status.

Amino Acids↗
PubMed1978

Ambiguous genitals and the choice of gender.

In 8 children with ambiguous external genitals, sex chromosome, hormonal and histological examinations were performed. On this basis the registered sex and the surname of the child were changed from the registered male to female in 3 cases and from female to male in one case. Diagnosis and the decision about the gender are urgent tasks, since prolonged waiting may have serious consequences in psychosexual development.

Adrenal Hyperplasia, Congenital↗
PubMed1978

Nationwide investigation of multiple malformations.

A nationwide programme for the evaluation of 1,339 newborns with multiple malformations (about 8% of all malformed babies) notified to the Hungarian Congenital Malformation Registry in the period 1973 to 1975, was launched on January 1st, 1973. As specific syndromes and anomalads, 696 cases (51.9%) were notified. On the basis of individual malformations, 87 cases were identified from 439 patients with notified associations, and 27 multiple malformations among 172 stillborns and infant deaths were recognized from autopsy records collected from pathologists. 341 surviving infants were officially referred to 'multiple malformation centres' for special examination. 57 infants of 129 cooperating families were identified. Benefits of this programme are (i) the proportion of specific syndromes and anomalads increased by 12.8%; (ii) the rate of unspecified multiple malformations decreased by 56.6%; (iii) examination of multiple malformations may be the most sensitive means to detect teratogens; (iv) 50.5% of the expected number of chromosome abnormalities in newborns was found; (v) the nationwide material of multiple malformed babies offers a possibility to clarify gene abnormalities and new syndromes.

Abnormalities, Multiple↗
PubMed1975

Familial translocation, t(2;5) (p23; g31).

A reciprocal translocation, t(2;5) (p23; q31) was found in healthy individuals through two generations of a family. The balanced aberration resulted in a derivate chromosome 2 in two malformed offspring in the third generation. The family was ascertained through the two unbalanced carriers whose phenotype abnormalities resembled those of two other offspring who died prior to the cytogenetic examination.

Adult↗