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T Tóth

Publications and source records attributed to T Tóth.

At least 19 recordsLinked to original sources
PubMed1998

[Surgical management of oro-cutaneous and pharyngo-cutaneous fistulae].

Pharyngocutan- or orocutan fistulas have been observed in 8.2% of patients after cancer operations at author's clinic. As first therapy the authors used a conservative treatment, and observed a closure in 7 patients while the remaining 5 patients were operated on. From these 5 last cases 3 had large and 2 had mid size fistulas. Four surgically treated patients had radiotherapy, but after conservative treatment their fistulas showed reepithelisation and lack of inflammatory reaction. These fistulas were closed with internal- and external (double) flaps. In all cases the internal flaps were prepared from surrounding tissues of the fistulas while the sternocleidomastoid-, the trapezius- and platysma-myocutan flaps were used externally.

Adult↗
PubMed1998

[Paracetamol-induced tubulointerstitial nephritis in a chronic alcoholic patient].

Hepatic and renal toxicity of paracetamol overdosage is well known like the fact that ethanol enhances the toxicity of the drug. Scanty data report on reversible hepatic and renal failure appearing after therapeutic dose of paracetamol in alcohol-abusers. Renal damage might also occur without gross hepatocellular damage in alcoholics. We report the case of a young alcoholic male whose first renal biopsy disclosed mesangiocapillary glomerulonephritis. One month later he took 1.5 g paracetamol to control the fever caused by upper respiratory tract infection. Soon he got hospitalised due to fever, toxicoderma, elevated liver and renal function test. While liver enzymes returned to normal, macroscopic haematuria, nephrotic range proteinuria oliguria, uraemia developed. A repeated renal biopsy revealed severe interstitial inflammation, tubular atrophy, progression of the vascular changes seen in the first biopsy. Haemodialysis was started and he got steroids (1 mg/kg body-weight) besides aggressive antihypertensive medication. He showed considerable recovery of renal function in some weeks. The case points to the possibility that paracetamol--even in therapeutic dosage--might result in hepatic and renal damage in alcoholics. The sudden deterioration in renal function was due to the acute tubulointerstitial nephritis superimposed on mesangiocapillary glomerulonephritis, provoked by paracetamol. Early diagnosis, immediate withdrawal of the toxic drug, steroid treatment might have kidney and life saving effect.

Acetaminophen↗
PubMed1998

[DNA-based prenatal diagnosis in epidermolysis bullosa].

Authors report a prenatal diagnosis in a family of Herlitz junctional epidermolysis bullosa with risk of recurrence. The diagnosis in the family was established in the case of the affected older brother using electron microscopy and immunofluorescence microscopy. The underlying mutation was also detected in the gene LAMB3. The affected older brother was homozygous, the parents and one of the siblings proved to be heterozygous carriers for the mutation and the other sibling was genotypically normal. The chorionic villous sample biopsy was carried out in the 11, week of pregnancy in order to extract fetal desoxyribonucleic acid. The previously detected mutation generates new restriction enzyme site, which was tested after the polymerase chain reaction amplification of the exon. Desoxyribonucleic acid samples of the family members and an unaffected unrelated control person were used as controls. The fetus proved to be genotypically normal.

Biopsy↗
PubMed1998

Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis.

PURPOSE AND METHODS: Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. This requires lengthy laboratory procedures and high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid and inexpensive and may potentially be suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction (F-PCR) using polymorphic small tandem repeats (STRs). RESULTS: In this paper we present data demonstrating that fluorescent PCR amplification of STRs can be used for rapid diagnosis of trisomy 21, trisomy 18, and trisomy 13 and can be successfully applied to both prenatal diagnosis and diagnosis of single cells. This study also reports significant numbers of prenatal diagnoses using quantitative fluorescent PCR. CONCLUSIONS: We believe that further studies of greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for trisomy diagnosis from single cells using multiple STR markers for either preimplantation genetic diagnosis or, potentially, diagnosis from fetal cells isolated from maternal blood.

Chromosomes, Human↗
PubMed1998

Detection of factor V Leiden mutation in severe pre-eclamptic Hungarian women.

Pre-eclampsia is a pregnancy-related disorder that complicates approximately 5% of all pregnancies and is cited as the primary cause of worldwide maternal and fetal mortality. The factor V Leiden mutation has been implicated in the development of severe pre-eclampsia. In order to investigate this association, a sample of 198 Hungarian women was recruited and enrolled in one of the three groups based on reproductive and health status: those as classified as pregnant and healthy (n = 71), those diagnosed as pregnant and severe pre-eclamptic (n = 69), and those found to be healthy and non-pregnant (n = 58). The presence of factor V Leiden mutation was determined by using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism analysis (RFLP). We identified three (5.2%) heterozygous among healthy non-pregnant participants, five (7.0%) heterozygous among healthy pregnant participants and 13 (18.8%) heterozygous among pre-eclamptic women (p < 0.05, 95% CI). Our result supports the previous observation that carriers of factor V Leiden mutation are at increased risk for developing severe pre-eclampsia.

Adolescent↗
PubMed1998

Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports.

Trisomy 18 is the second most common genetic defect after trisomy 21, almost 90% of which are due to additional chromosome from the mother. The parental origin of the additional chromosome can, if required, be determined by two methods: karyotyping, which takes several weeks; or, more recently, by polymerase chain reaction (PCR) which is often problematic. Fluorescent PCR of small tandem repeats (STRs) can determine the parental origin in the majority of cases within 5 h. Although the incidence of paternal origin is known for both trisomy 21 and trisomy 18, this technique can rapidly determine the parental origin in cases where there is insufficient samples to perform conventional tests. Determining parental origin by these methods may also have clinical significance in the diagnosis of chromosomal translocations or in the diagnosis of genetic disease using linkage analysis.

Chromosomes, Human, Pair 18↗
PubMed1998

Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.

Pearson syndrome is a multisystem juvenile condition associated with deletions in the mitochondrial genome. The most common 4977 bp deletion of mitochondrial DNA (mtDNA) can mainly be detected in the patients' peripheral blood. Here we report a child with a clinically unclarified diagnosis where molecular genetic results proved Pearson syndrome from stored dried blood sample 6 months after the patient's death. PCR amplification around the breakpoint of the most common mtDNA deletion could detect the presence of mutated mtDNA. Another polymerase chain reaction (PCR) assay indicated the low level of wild type mtDNA in patients' blood. We believe that this case shows the importance of storing Guthrie card and the availability of detection of Pearson syndrome from dried blood sample.

Anemia, Sideroblastic↗
PubMed1998

Apolipoprotein E alleles in women with severe pre-eclampsia.

This study investigated the frequency of apolipoprotein E (apoE) alleles among women with severe pre-eclampsia. The presence of the three most common apoE alleles (epsilon 2, epsilon 3, epsilon 4) was determined by polymerase chain reaction-restriction fragment length polymorphism in three groups of white women: non-pregnant healthy (n = 101), pregnant healthy (n = 52), and pregnant with a diagnosis of severe pre-eclampsia (n = 54). The frequency of apo epsilon 2 was highest among women with severe pre-eclampsia (16.6%) followed by non-pregnant women (12.9%), and those experiencing a healthy pregnancy (10.6%). The higher frequency of the apo epsilon 2 allele detected among women with severe pre-eclampsia suggests that apoE may play a role in the development of pre-eclampsia.

Adolescent↗
PubMed1998

Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis on amniotic fluid. This requires lengthy laboratory procedures and high costs, and is unsuitable for large scale screening of pregnant women. An alternative method, which is both rapid and inexpensive and suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction using polymorphic small tandem repeats (STRs). In this paper we present the preliminary results of a larger study comparing parallel prenatal diagnoses of trisomies 21 and 18 using cytogenetics with quantitative fluorescent polymerase chain reaction using STR markers. The results obtained by the two techniques were concordant in all cases. This is the first study reporting significant numbers of prenatal diagnoses using the quantitative fluorescent polymerase chain reaction. We believe that further studies on greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for diagnosis of trisomy from single fetal cells isolated from maternal blood.

Amniocentesis↗
PubMed1998

Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR.

The major reason for prenatal diagnosis lies in the detection of trisomies, particularly trisomy 21 (Down's syndrome). Current techniques require lengthy laboratory procedures and high costs. Furthermore, diagnosis is often not possible if the sample is of small size or is contaminated. An alternative method, quantitative fluorescent polymerase chain reaction (PCR) of short tandem repeats (STRs), can also be used to diagnose trisomies and it has the advantage that a result is obtained within five to eight hours. However, this method is currently limited to relatively large amounts of sample, which restricts diagnostic confidence and value. Recently, genetic diagnosis using fluorescent PCR has been applied at the single cell level but is limited to sex or single gene defect diagnosis. This study, using quantitative multiplex fluorescent PCR, provides for the first time simultaneous diagnosis and confirmation of sex and trisomy in single cells. Two markers for chromosome 21 increase diagnostic confidence, informativeness, and confirmation. This system is rapid (five hours), reliable, and accurate and we believe that it will be more cost effective than alternative methods. The technique has direct application to preimplantation genetic diagnosis, early prenatal diagnosis, and other diagnostic systems where sample size is limited.

Down Syndrome↗
PubMed1998

Glomerular hypertrophy as a prognostic marker in childhood IgA nephropathy.

A clinicopathological and morphometric analysis of glomerular hypertrophy (GH) was conducted using biopsies obtained from 52 selected pediatric patients with IgA nephropathy (IgAN). Of the 52 patients, consisting of 12 with chronic renal failure (CRF) and 40 without CRF, various clinical and morphometric parameters were compared to 10 controls with benign hematuria. The mean glomerular tuft size, mesangial area, and interstitial area all significantly increased in patients with poor prognosis when compared to the non-CRF-IgAN cases and the control cases. The glomerular capillary loop size was also significantly greater in CRF-IgAN than in non-CRF-IgAn patients (1.37 times) and the controls (1.55 times). The 10-year renal survival rates of patients with 'large' loop size (>1.55-fold) were significantly lower (p < 0.001) than those of patients with a smaller capillary loop size. The size of the capillary loops was directly related to the relative interstitial area (Aint) (r2 = 0.43, p < 0.001), to the degree of glomerulosclerosis (GS; r2 = 0.348, p < 0.001) and the mesangial area (r2 = 0.326, p < 0.001). Proteinuria tightly correlated with the capillary loop size (r2 = 0.374, p < 0.001). It was not unexpected that a strong relationship was detected between the serum creatinine level and Aint (r2 = 0.452, p < 0.001) and the percentage of GS (r2 = 0.342, p < 0.001). In IgAN the percentage of GS correlated significantly with Aint (r2 = 0.484, p < 0.001). GH, which was manifested by glomerular capillary loop dilatation, shows a close correlation with the interstitial expansion, degree of GS and mesangial enlargement. These data suggest that both extra- and intraglomerular hemodynamic changes followed by primary glomerular damage thus lead to capillary dilatation of the intact glomeruli as a morphological manifestation of GH and therefore such changes play a key role in the progression of IgAN.

Adolescent↗
PubMed1998

Fetal RhD genotyping by analysis of maternal blood. A case report.

BACKGROUND: Prenatal determination of fetal rhesus D (RhD) status is desirable in pregnancies in sensitized, RhD-negative women to prevent hydropic degeneration of the fetus. Recently, a polymerase chain reaction (PCR) test on amniocytes or chorionic villi has been in use to demonstrate the RhD status of the fetus in sensitized pregnancies. A more advisable, noninvasive approach is to determine the fetal RhD group from fetal cells circulating in maternal blood. CASE: We report on a prenatal diagnosis where RhD-positive cells could be detected from peripheral blood of a sensitized, RhD-negative mother. The presence of an RhD-positive fetus was confirmed by subsequent amplification of fetal DNA obtained by chorionic villus biopsy. CONCLUSION: In sensitized pregnancies, the number of fetal cells in maternal blood seems to be high enough to be detected by PCR in every case.

Adult↗
PubMed1998

Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1.

Amniocentesis↗
PubMed1998

Fetal hydropericardium associated with left ventricular diverticulum.

Fetal pericardial effusion usually develops because of fetal heart failure, infections, chromosomal abnormalities, fetal anaemia, intracardiac or extracardiac tumours. There is only one case in the literature of isolated hydropericardium associated with left ventricular diverticulum and here we report another.

Abortion, Induced↗
PubMed1998

Diffuse thin glomerular basement membrane in association with idiopathic membranous glomerulonephritis.

Here we present a rare report of diffuse thin glomerular basement membrane (dTGBM) with idiopathic membranous glomerulonephritis (IMGN). dTGBM was found in 11 (2.04%) of 539 adult patients with IMGN. The male:female ratio was 1:1.2. Sixty patients with IMGN alone (matched for age and sex) were adjusted and analyzed as control patients. There was no significant difference in the clinical and laboratory data between the two groups except for the microhematuria, which was more frequently found in the dTGBM associated IMGN group (dTGBM + IMGN) (10/11, 91%) than in the IMGN group (19/60, 31.7%), and the difference was significant (p <0.001). However, no statistical difference was found in morphological parameters between the two groups except in the thickness of the glomerular basement membrane (GBM). In this study, using specific monoclonal antibodies against the chains of type IV collagen, no change in quality or location (in aberrant or no expression) was found in the collagenous composition of the dTGBM compared to the normal GBM. No prominent thickening or transformation of the GBM, which is characteristic for MGN, developed in the dTGBM + IMGN cases or IMGN. As a result, we could not detect any difference in the prognosis between these two groups. These findings support the view that IMGN can occur in patients with dTGBM, and the dTGBM patients may recover completely. The possible coexistence of these diseases was thus hypothesized due to the persisting microhematuria.

Adult↗
PubMed1997

[Complex screening of family members at risk for familial adenomatous polyposis].

151 members of 10 affected families with FAP have been registered at the authors' regional polyposis registry, among them 51 FAP patients were verified histologically. The disorder is autosomal dominant thus the chance for the inheritance of the mutated allele is fifty percent in the offspring of an affected patient. Because of the high risk the registration and regular control of family members is recommended. They can be divided into high risk and low risk group based on presymptomatic tests. The examination of retina pigmentepithel was the only possibility for presymptomatic diagnosis earlier. After localization and identification of APC gene responsible for the disease molecular genetic methods have been introduced for presymptomatic diagnosis. The authors performed presymptomatic tests based on ophthalmologic and molecular genetic methods among family members at risk. Ophthalmologic examination was done in 53 while molecular genetic investigation in 54 cases. All the results of endoscopic, ophthalmological and molecular genetic examinations were available in 35 persons, among them 19 FAP have been found. Ophthalmological examination were informative in 33 out 35 cases (unequivocal positive or negative) while results of molecular genetic methods and sigmoidoscopy were correlated in every case. Authors stress the significance of complex screening of affected families with FAP in the prevention of colorectal cancer and extracolonic malignant processes.

Adenomatous Polyposis Coli↗