Biomedical subjects
Publications and source records attributed to G Fekete.
The authors describe the metastasis in gallbladder of the malignant melanoma removed from dorsal skin. Due to the increasing incidence of dermal melanomas, they emphasize the occurrence of unexpected and unpredictable metastases and the need for a close, life-long follow-up of patients. The prognosis of visceral metastases is affected to a great extent by their early detection.
The authors screened 374 patients clinically diagnosed be affected by cystic fibrosis. Mutations delta F508, G542X, G551D, R553X, N1303K were analysed to obtain genetic diagnosis. The large number of patients involved in this study allowed for authors to present precise data of the frequencies of these mutations in Hungary. The frequency of mutation delta F508 is found to be significantly less then the numbers reported in other studies. This is due to sampling bias occurring at little sample sizes. Mutational analysis has been used as a tool of prenatal diagnosis.
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Ketamine (K) i.m. has been widely used for anesthetic induction in small children in the last decades, if mask induction has failed. In many instances, however, physical restraint was required. In order to eliminate the pain of i.m. injection and to prevent the psychological and physical trauma associated with restraint, we evaluated the utility of jet-injection (j.i.) of K for anesthetic induction in a dose-range finding study. Thirty children (age 1-6 years), whose parents gave a valid consent approved by the IRB and were scheduled for minor surgeries, were randomized into 3 equal groups: A/ketamine 6.0 mg/kg j.i., B/ketamine 3.5 mg/kg j.i., C/ketamine 2.5 mg/kg j.i. As a drying agent atropine 20 microg/kg was also given i.v. The onset of full amnesic/sedative effect of K, the scoring of sedation and emotional state, the ease of placement of the i.v. catheter, the speed of recovery by Aldrete scores, and the time for safe discharge were evaluated. Although no demographic differences were observed among the groups the duration of surgery and anesthesia were longer in the B group (41 and 49 min) than in the A or C groups. The onset of sedation was significantly (p < 0.05) faster in group A (174 sec) than in group B (312 sec) or C (303 sec). However, no significant difference was observed in the onset of complete sedation among the groups. The sedation index was the lowest representing the best sedation in group A (4.2) while in group B and C were somewhat higher (4.6 and 4.4). There were no differences in the ease of i.v. cannulation among the groups. Recovery from anesthesia was the slowest in group A, although the differences among the 3 groups did not reach statistical significance. The mean discharge times ranged from 10-13 min with no differences among the groups. Laryngospasm occurred in 4:10 in group A and 1:10 in groups B and C. Evidently the high dose of K, 6.0 mg/kg caused a proneness to laryngospasm. Since no additional benefit was derived from this high dose, the lower doses (3.0 mg/kg) of K may be sufficient for routine use. None of the children experienced unpleasant recall or pain for the injection or the whole procedure. This new route of anesthetic induction with the jet-injector utilizing K may provide pain-free and stress-free induction as compared to its i.m. injection. This technique also prevents transmission of infection and is [correction of and cost] cost effective since simultaneous and/or sequential injection can be given from a single vial of K.
In order to shorten anaesthesia induction and to avoid pain of the intramuscular injection, we evaluated the efficacy and safety of midazolam given by a jet-injector, utilized solely for mass inoculations until now. Premedication with midazolam with the jet-injector, indeed, proved to be effective, rapid and safe in children. The best results were found in two groups receiving 150-200 microgram/kg midazolam. Within 5 minutes, it was easy to cannulate a vein in children injected by the jet-injector, whereas the effect of intramuscular injection developed slowly, within 7 minutes. In the latter group, cannulation of the vein was more difficult than in the other groups. The separation from the parents and anaesthetic induction were greatly facilitated by midazolam given by the jet-injector. Amnesia was present not only for anaesthetic induction but also for the injection. Recovery was not more prolonged in those premedicated with midazolam with the jet-injector than with midazolam administered by other routes: oral, rectal or nasal. The children induced with the aid of jet-injector had no unpleasant recall based on interviews with the patients and parents.
In order to assure rapid anesthetic induction in children and to prevent the psychological and physical trauma associated with restraint during mask induction or intramuscular injection, we evaluated the utility of a jet-injector and the effectiveness of midazolam for anesthetic co-induction in a dose-range finding study. Forty children (age: 1-6 yrs), whose parents gave a valid consent approved by the Institutional Review Board (IRB) and who underwent minor surgery, were randomized into four equal groups: A. midazolam 100 micrograms/kg by jet-injection (JI); B. midazolam 150 micrograms/kg JI; C. midazolam 200 micrograms/kg JI; D. midazolam 80 micrograms/kg i.m by conventional syringe-needle. As a drying agent, atropine 20 micrograms/kg JI or i.m. was also added to the midazolam solution. The onset and full sedative effect of midazolam, the scoring of sedation and emotional state, the ease of placement of the intravenous catheter, the speed of recovery by Aldrete-scores and the time for safe discharge were evaluated. No demographic differences were observed among the four groups with similar mean duration of surgery and anesthesia. The mean sedation score was reduced in Group C the most, less in the B, A and D groups. The onset of sedation ranged from 3-5 min in groups A, B or C as compared to 5-9 min in D. Ideal conditions for the start of i.v. catheter were best achieved in group C (8:8) and B (8:10) in contrast to groups A (2:10) and D (0:10). Whereas no i.v. start was difficult in B and C, 6:10 were difficult in D and A. None of the children in the three JI groups (A, B and C) experienced unpleasant recall or pain from the injection during the whole procedure. Response to verbal stimuli recovered in 3 min after the end of anesthesia and the children were discharged 8-9 minutes afterward. None of the children needed a longer than 15-minute interval to reach an Aldrete score of 10. No differences among the groups were observed as to the time of recovery or discharge. This new route of midazolam administration with the jet-injector allows pain-free and stress-free induction of anaesthesia after rapid placement of an intravenous catheter and prevents the transmission of infections.
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Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions. Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutant which is an animal model for aniridia, and six human aniridia patients. In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial. These mutations highlight regions of the gene which are essential for normal PAX6 function. In addition, the frequency at which we have found PAX6 mutations suggests that lesions in PAX6 will account for most cases of aniridia.
Author recalls the nearly four decades education activity of the National Institute of Traumatology and the Chair of Traumatology of the Postgraduate University of Medicine. The importance of the high standard therapeutical activity is stressed. Similarly the education based on scientific activity is also thought indispensable. He describes the technical conditions and the data of the more important courses.
Authors made a follow-up of the pilon fractures treated in the National Institute of Traumatology during the five years period of 1983 through 1987. 43 of them could be controlled after 4-8 years personally. A radiological follow-up result of at least 1-2 years was nearly in all cases available. The surgical therapy in this period was almost exclusively stable osteosynthesis. Fixateur externe was used only exceptionally. On the basis of their results it is thought that in the treatment of pilon fractures the stable osteosynthesis with exposure should have an important role in the future too.
The common major mutation (delta F508) resulting in the removal of a phenylalanine residue of the cystic fibrosis gene product has been identified in patients with cystic fibrosis in several European countries. The frequency of this mutation was analyzed in 39 Hungarian patients with cystic fibrosis and in some of their relatives. In 43 out of the total 65 persons involved in the study (66.15%), and in 50% of cystic fibrosis chromosomes the delta F508 mutation could be detected. 56.4% of the patients were homozygous for the mutation. The frequency of the delta F508 mutation in these Hungarian patients resembles the values found in Middle Europe. Pulmonary and enteral symptoms were more severe in cystic fibrosis patients with delta F508 mutation. Although the number of patients is relatively low, missing or mild lung involvement characterized the cases with non-delta F508 mutation.
Authors use in the diagnosis of fractures of the pelvis a three dimension programme developed by them to the tomographic apparatus of the Siemens Somatom CR computer. With the demonstration of a few pictures of their own they call attention to the possibility of diagnosis given by the 3D-CT programme. On the basis of their experiences the advantages and disadvantages of this modern imaging method are summarized.
UNLABELLED: The authors report their results in surgical treatments of carcinoma localized in the low two thirds of the rectum done between 1980 and 1988. The number of patients was 150. Resectability: 119/150 = 79.33 per cent. Lethality: 4/119 = 3.3 per cent. Seventy three of the patients (61 per cent) had sphincter saving procedures and 46 of them (38.7 per cent) had abdominoperineal excision. Out of the 64 low anterior resection 2 patients (L: 2/64 = 3.1 per cent) and out of the 46 abdominoperineal excision also 2 patients (L: 2/46 = 4.5 per cent) were lost. In the sphincter saving group the distal clearance margin was decreased to below 3 cms at 29 patients without having local recurrence. CONCLUSION: in many cases of the carcinoma localized in the middle third of the rectum (at 82 per cent of our own patients) the sphincter can be saved without having more local recurrences. Decreasing the distal clearance margin to 2.5 cms does not increase the possibility of local recurrence if we do it cranially the same way as at Miles operation and remove the mesorectum caudally and laterally.
The infrequent case of gallbladder torsion and accompanying Meckel's diverticulum in a 3-year-old girl, is described. Detorquation, cholecystectomy and resection of the diverticulum were performed. Condition of the development of the disease as well as its clinical aspects and therapy are discussed. It is suggested to explore the abdominal cavity for other developmental anomalies in the course of the operation. The patient recovered without complications and left the hospital 14 days after the operation.
Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenylalanine hydroxylase (PAH). Several mutations in the PAH gene have recently been reported, and linkage disequilibrium was observed between RFLP haplotypes and specific mutations. A new molecular lesion has been identified in exon 7 of the PAH gene in a Hungarian PKU patient by direct sequencing of PCR-amplified DNA. The C-to-T transition causes the substitution of Arg243 to a termination codon, and the mutant allele is associated with haplotype 4 of the PAH gene. The mutation is present in two of nine mutant haplotype 4 alleles among Eastern Europeans and is not present among Western Europeans and Asians. The rarity of this mutant allele and its restricted geographic distribution suggest that the mutational event occurred recently on a normal haplotype 4 background in Eastern Europe.