Biomedical subjects
P Kiss
Publications and source records attributed to P Kiss.
Trisomy 1q.
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Association of 13q deletion and Hirschsprung's disease.
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A nationwide evaluation of multiple congenital abnormalities in Hungary.
A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA (320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were excluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.
Deletion of the short arm of chromosome 20.
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Partial deletion of short arm of chromosome 8.
46, XY, del(8) (p21-pter) aberration was found in a 5 year old boy with moderate craniofacial dysmorphia, mental and somatic retardation. The cytogenetic and clinical features of the patient were compared to 11 cases found in the literature. Partial 8p monosomy does not produce a unique phenotypic alteration. Postnatal growth deficiency, craniofacial dysmorphia and mental retardation are the main and common characteristics of many structural autosomal aberrations. The importance of cytogenetic analysis in such cases is stressed.
[Transthoracic fine-needle biopsy of the lung].
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Tissue oxygenation: another aspect of the Fick equation.
Substituting the formulas of O2 delivery (DO2) and O2 extraction ratio (O2ER) into the Fick equation, a new equation representing tissue oxygenation is obtained: VO2 = DO2 X O2ER. This aspect of the Fick equation is important in clinical practice as it provides a reliable picture of tissue oxygenation if all related variables are examined together.
Characterization of Pseudomonas aeruginosa isolated from drinking water by serogrouping, phage sensitivity and pyocin pattern.
Pseudomonas aeruginosa strains isolated in the years 1977-1981 from drinking water samples fell into a large number of epidemiological units determined on the basis of serogroups, phage sensitivity and pyocin pattern. Strains isolated from water were, as a rule, sensitive to more phages than strains cultured from clinical material. The 427 water isolates fell into 8 serogroups and 31 pyocin patterns; 25.1% were untypable by the pyocin method. The frequency of isolation of different phage patterns varied annually. The most frequent epidemiological unit, comprising 9.1% of the isolates, was (serogroup: phage pattern: pyocin pattern) O1: 2/7/16/21/44/68/73/F7/F8/109/119x/352/1214/M4/C11/C18/C21:12 3567; 73.8% of the strains belonged to epidemiological units each represented by less than 4 strains. The large number of epidemiological units indicated that the distribution system had frequently been polluted with P. aeruginosa at different sites, but the organism was unable to invade the whole water supply system.
[Computer analysis findings in acute patients treated in the pulmonological department].
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Partial deletion of short arm of chromosome 18.
Three cases of partial deletion of the short arm of chromosome 18 (pll-pter) are presented. The cytogenetic and clinical features of the patients observed are compared to cases found in the literature. 18p-aberration produces a fairly unique phenotypic alteration, but on the sole basis of the clinical manifestation, without cytogenetic analysis, correct diagnosis cannot be established.
[Premature aging syndromes with special reference to lipodystrophy (a case report)].
The authors survey the modern classification of progeria and report on a 12-year old girl suffering from lipodystrophia totalis and diabetes mellitus (Lawrence-Seip-syndrome). The girl developed sclerodermiform changes at the age of one year, at her 10th year acanthosis nigricans, xanthoma tuberosum Fredrickson hyperlipoproteinaemie IV, later II/B type and finally at an age of 11 1/2 year diabetes mellitus.
Incidence of Pseudomonas aeruginosa serogroups in drinking water: use of serotyping in the control of water supplies.
From 26,568 drinking water samples collected in the years 1977-1981 from deep well supplies in Csongrád county, Hungary, 1269 Pseudomonas aeruginosa strains were isolated. The most frequent serogroups (Lányi-Bergan scheme) were O6 (9.5-69.2%), O1 (5.5-35.5%) and O9 (2.2-36.2%). Predominance of a given serogroup varied with, and was characteristic of geographic areas of the county, water plants and distribution systems. Bacteriological monitoring has shown that serotyping of P. aeruginosa may be useful for evaluating the mechanical condition of the water supply.
[Experiences with Nordenström's transthoracic needle biopsy based on 1064 clinical cases].
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[Recessive-inherited hydrocephalus (prenatal diagnostic and therapeutic considerations)].
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Down syndrome: correspondence of clinical diagnosis and karyotype.
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Trisomy 5q15-q31 due to maternal insertion, ins (6; 5) (q21; q15q31).
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Ring chromosome 15.
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