Prenatal detection of trisomy 21 by fluorescent polymerase chain reaction: importance of primer selection and criticism of an earlier report.
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Biomedical subjects
Publications and source records attributed to T Tóth.
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The authors are reporting on the presymptomatic diagnosis of the autosomal dominant Huntington's disease applying the polymerase chain reaction for the first time in Hungary. The detection of the products yielded by polymerase chain reaction was carried out by silver stained polyacrylamide gel. This silver staining gave appropriate result without using radioactive technique. Cause of the disease is the greater number of CAG repeat sequence in the region of the Huntington's disease gene. The number of CAG repeats in Huntington patients is more than 37, while in not affected persons it is less than 34. Four members of two families each were examined and presymptomatic diagnoses were performed in two cases of both families. Normal alleles were detected in all cases. The tests supported the diagnoses of these patients suffering of clinically proved Huntington's disease.
Clincopathological and morphometric analysis of glomerular hypertrophy was conducted using biopsies from 89 patients with minimal change nephrotic syndrome (MCNS). Of the 80 patients, in 69 with complete remission and in 20 with one or more relapses, various clinical and morphometric parameters were compared to 15 normal controls. Proteinuria was more severe and serum creatinine (Cr) concentration significantly higher in patients with relapse of proteinuria. The morphometric analysis showed that the sizes of (1) glomerular tufts and (2) glomerular capillaries were significantly larger in patients in the relapse group than in the remission or control groups, but no difference in the size of Bowman's capsule was found between the two MCNS subgroups. The intertubular capillaries were narrower in patients who failed to reach prompt complete remission. A negative correlation between intra- and extraglomerular capillary size was evident (r = -0.83, p < 0.001). A definitive correlation was detected between the circumference of glomerular capillary loops and the degree of proteinuria (r = 0.89, p < 0.001). The mean tubulocapillary diffusion distance was significantly longer in biopsies of the patients in relapse and showed a close significant correlation with serum Cr level (r = -0.87, p < 0.001) and intertubular capillary size (r = -0.87, p < 0.001). These data suggest that extra- and intraglomerular hemodynamic alterations in MCNS lead to glomerular hypertrophy, and dilatation of the glomerular capillary loop plays a key role in the relapse of MCNS.
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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. Soon he got hospitalized due to toxicoderma, elevated liver and renal function tests. While the liver enzymes returned to normal, uremia developed. A repeated renal biopsy revealed severe interstitial inflammation, tubular atrophy. Haemodialysis was started and he got steroids (1 mg/kg body weight). 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 authors report a case of a thanatophoric dysplasia associated with hydramnios diagnosed at 32 weeks' gestation by sonographic investigation. The final diagnosis was derived from radiological and hystological findings. The authors underline that the identification of a specific osteochondrodysplasia is quite difficult and postulates interdisciplinary cooperation between gynecologists, neonatologists, radiologists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved.
Follow-up data on 100 patients with idiopathic membranous glomerulonephritis (IMGN), in whom renal biopsy has been performed, are discussed. The period of follow-up ranged from 3 to 24 years (median 7.8 years). Sixteen of the patients had end-stage renal disease. Complete remission of renal disease occurred in 41 patients. The remaining 43 patients exhibited persisting renal functional abnormalities at the end of the follow-up period. Using Cox's proportional hazard model, six parameters were found as predictive factors for prognosis at the time of biopsy: serum cholesterol level > 260 mg/dl, serum creatinine concentration > 1.4 mg/dl, the presence of tubulointerstitial (TI), vascular, mesangial, and Bowman's capsular lesions. No effect was observed in the size of subepithelial electron dense deposits (SED) on prognosis. A weakly positive correlation was found between the thickness of the glomerular basement membrane (GBM) and poor outcome. Treatment with steroid and/or immunosuppressive agents was not found to improve survival. Assessment of these factors thus allows the pathologist to make a relevant statement concerning the probable course and prognosis of the disease at the time of the diagnostic biopsy.
OBJECTIVE: Our purpose was to test the hypothesis that chronic inhibition of nitric oxide synthesis in pregnant rats can produce a preeclampsia-like syndrome. STUDY DESIGN: Pregnant rats were instrumented on day 14 of gestation (parturition day 21 to 22) and infused continuously through a venous catheter with L-nitro-arginine, a potent inhibitor of nitric oxide synthase, or with sterile saline solution from day 18 until 24 hours post partum. A group of virgin rats was treated identically. Blood pressure was recorded in unrestrained animals with an aortic catheter for 30 minutes before infusion and repeated each day throughout the experiment. Urinary albumin, platelet count, weight of newborn pups, blood chemistry, and several other parameters were determined. Data were analyzed by one-way, repeated-measures analysis of variance, with Dunnett's t test or by Student t test. RESULTS: Mean arterial pressure increased from 102.6 +/- 2.8 to a mean maximum of 152.5 +/- 7.3 on the second day of infusion and remained in this range until delivery, after which it fell significantly, in spite of continuing infusion of L-nitro-arginine. This treatment increased urinary albumin (milligrams per 24 hours) from 8.3 +/- 1.5 to 56.3 +/- 14.3 in gravid and from 8.2 +/- 0.8 to 18.2 +/- 2.4 in virgin rats. Weight of newborn pups was reduced by L-nitro-arginine from 5.62 +/- 0.10 to 3.37 +/- 0.32 gm (p < 0.005) without affecting time of delivery or litter size. Platelet count was reduced 58% in gravid and 50% in virgin rats. CONCLUSION: Chronic inhibition of nitric oxide synthesis in gravid rats leads to sustained hypertension, proteinuria, thrombocytopenia, and intrauterine growth retardation, providing a simple animal model for preeclampsia.
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In their paper, the authors are dealing with the effect of the Chernobyl's nuclear catastrophe (1986) for the outcome of pregnancy and some parameters of the status of health. Their empirical study is based on a sample (sample size is 1168) of pregnant of the critical year 1986, and also based on a control sample (sample size is 1068) of the year 1985. They compared the five old year children's parameters of status of health between the critical and control groups. Their retrospective epidemiologic survey is extended to study some prenatal, perinatal and childhood parameters also. Finally, they summarise the biometric evaluation of their questionnaire survey. No significant difference of health conditions of the two groups defined above was found.
A non-tumoral stenosis of the gastrointestinal tract (after rectum resection) was treated successfully with CO2 laser. The case was not suitable for classic surgical resection.
Computer simulations of the spontaneous pacemaker oscillations observed in thalamocortical (TC) cells were performed using a biophysical model that included the low voltage activated, Ca2+ current, IT, and the mixed Na+/K+, inward rectifying current, Ih. The simulations accurately reproduced the waveform and voltage-dependence of the pacemaker oscillations, hence the transition from tonic firing to burst firing which is a peculiar feature of the electrical activity of TC cells both in vivo and in vitro. The results provide further support to the suggestion that IT and Ih are essential for the presence of the pacemaker oscillations, and indicate that our model is a useful tool for the study of spontaneous, low-frequency oscillatory activities in TC cells.
Intestinal lesions were produced experimentally by heating the eventrated loop of the small intestine of Wistar rats in 44 degrees C 0.9% saline 20 minutes. Luminal haemorrhage and elevation of the potassium concentration in the wash-out fluid were registered from the fifth minute of the experiment. In the sediment of the wash-out fluid erythrocytes, degenerated and necrotic epithelial cell clusters were found. Histologically the mildest lesions were subnuclear vacuolization of the epithelial cells and stromal oedema of the villi. In the medium-degree lesion subepithelial cleft formation, desquamation of the epithelial cells and denudation of the villi occurred. The fully developed lesion was characterized by the destruction of the villi intestinalis and haemorrhage. This lesion produced by local heating differs from the intestinal lesions of the rats exposed to high environmental temperature basically in the haemorrhagical nature of the former lesion.
The Nd:YAG and CO2 laser can be used with benefit in the surgery of the liver, biliary tract and pancreas. The Nd:YAG laser is most suitable for cutting parenchymatous organs, as e.g. the liver. In biliary surgery the CO2 laser can be recommended. Based on their 12 cases, authors discuss the applicability of CO2 laser.
Authors have performed 29 septic operations by a TLS61 60 W CO2 laser apparatus. In accordance with international experience, favorable results have been obtained in laser surgery of vascularized, hemophilic and bacterium penetrated alterations and infected wounds.
Rare dermatoglyphical patterns of fingers and palms of 26 different Hungarian population groups (males; 3207 individuals, 6414 hands) are compared with that observed in some population groups from the USSR (Buriats, Chookhchees, Kazakhs, Mansi and Komi), Khalkha-Mongolians, and Ethiopians (altogether 838 male individuals, 1676 hands). These patterns are: Radial loops on IV. and V. fingers, absence of triradius "d" on the palms, Ar,Lu and W + S on the hypothenar, Lc/Lr (Bettmann figure) and W + S on the thenar/I, and W on II., III. and IV. interdigital pads. It is pointed out that in addition to population studies these rare traits may also be used in genetic investigations (twin studies) as well as in forensic anthropology (disputed paternity).
The authors have performed 29 septic operations with a TLS61 CO2 surgical laser with 60 Watt output power. They have gained good experiences with the laser excision of the vascularized, bleeding, inflammated, penetrated by bacteries and infected wounds.
The author has analysed the renal alterations in 8 patients, each of whom died of renal failure. Extracapillary crescents had developed in more than 50% of the glomeruli in all of them. Renal symptoms followed those of endocarditis after two weeks. Proteinuria, haematuria and impairment of renal functional parameters featured the clinical course of the disease. From the haemoculture, bacteria (in 6 cases) and fungus (in one case) were isolated. Haemoculture was negative in one case. The obtained serum complement values, intraglomerular immunoglobulin and/or complement depositions, electron-dense deposits along the glomerular basement membrane and within the mesangium all proved the presence of an immunocomplex mechanism. The rapid course leading to renal failure can be explained by the abundant crescent formation.