Biomedical subjects
Publications and source records attributed to Z Papp.
The authors report a successfully treated case of congenital hydrops caused by Kell alloimmunization. It is very important the early proper therapy and to make difference between the non immune hydrops fetus and the hydrops caused by alloimmunization. It seems to be indicated--also in Hungary, as the other European countries--the introduction of the screening of irregular antibodies during the pregnancy.
A 55 year old patient 3 years after gastric resection (Billroth II) has got gastric outlet stenosis. Half year ago was established a tumour recidive, that the time of reoperation was inoperable. Under endoscopic and radiological control we have introduced and placed a 19 mm diameter, 4 cm long balloon expandable tantalum stent (Strecker stent). The gastric passage has normalised and after 6 month the patient is symptom free.
The authors give a review about the latest method of the prenatal diagnosis of cystic fibrosis. Examples were chosen from their own cases to illustrate the possibilities of the prenatal diagnosis based on the mutation analysis of the CFTR gene. Using both mutation and haplotype analysis, 10 prenatal diagnosis were performed from chorionic villus samples taken in the early stage of the pregnancy (10-12 weeks). There were 5 healthy and 5 affected fetuses found. The advantage of this method, that in certain cases, diagnosis is available for families having no live affected child.
The absence of one umbilical artery (SUA) is the most common malformation of the umbilical cord. It may accompany other abnormalities or occur as an isolated defect. We examined 885 fetuses, terminated following the prenatal diagnosis of serious or lethal malformations between April 1977 and March 1989, for the presence of SUA. We found 62 cases of SUA. This represents an incidence of 7.01% (62/885). The most common abnormalities found in association with SUA were: (1) multiple malformations (8/11 cases, SUA incidence = 72.7%), (2) ADAM complex (7/14 cases, SUA incidence = 50.%), (3) multicystic renal dysplasia (5/20 cases, SUA incidence = 25.%), and (4) Potter sequence (5/21 cases, SUA incidence = 23.8%). These associations have not been documented previously. In 6 fetuses the Meckel syndrome was diagnosed, and SUA was present in 2 of these. Therefore, SUA may represent an additional anomaly in Meckel syndrome that has not been reported previously.
Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To identify other common mutations in CF families from Hungary, 30 non-delta F508 CF chromosomes were analyzed for selected mutations in exon 11 (G551D, R553X, G542X), intron 4 (621 + 1G----T), intron 10 (1717-1G----A), exon 20 (W1282X), and in exon 21 (N1303K) of the CFTR gene. In 6 of the 30 non-delta F508 CF chromosomes the following mutations were detected: R553X, G542X, 1717-1G----A, W1282X, and N1303K. After analysis of the above eight mutations, 30% of CF chromosomes are as yet undefined and further analysis is planned.
Serum inhibin concentrations of 64 cycles of in-vitro fertilization--embryo transfer (IVF-ET) or gamete intra-Fallopian transfer (GIFT) have been analysed retrospectively. No significant difference was observed in serum inhibin levels of cycles stimulated with buserelin and human menopausal gonadotrophin (HMG) or HMG alone. During the late follicular phase, serum inhibin was higher in cycles resulting in pregnancy than in cycles without a pregnancy (peak values on day +1: 8.3 versus 6.4 IU/ml, respectively). The same difference was found between stimulation cycles resulting in a viable or a non-viable pregnancy (peak values on day +1: 8.3 versus 7.5 IU/ml). However, these differences were not significant. During the early luteal phase, serum inhibin values were similar in these groups of patients. Our results indicate that the use of the gonadotrophin-releasing hormone (GnRH) analogue buserelin, in combination with HMG, for ovarian stimulation does not affect inhibin production by granulosa cells in vivo. The late follicular and early luteal concentrations of serum inhibin have to be considered unsuitable as predictors in IVF/GIFT cycles with respect to pregnancy and pregnancy outcome.
1. Mechanical properties of permeabilized single fibres from rabbit psoas and soleus muscle were determined by measuring the length responses due to abrupt changes in load and the force responses due to isovelocity length changes at different phosphate and Ca2+ concentrations. 2. The length responses due to abrupt increases in load from psoas fibres showed a rapid lengthening during the change in load followed by a phase of lengthening during which the velocity gradually decreased. In soleus fibres an abrupt lengthening during the change in load was followed by a phase of lengthening during which the velocity remained constant or decreased slightly for increases in load to less than 1.45 of the isometric force (F0). For larger increases in load the velocity during this later phase first increased and thereafter decreased. 3. The initial force-velocity curve, derived from the early part of the isotonic responses after the change in load, as well as the late force-velocity curve derived from the force level attained during isovelocity length changes, were sensitive to phosphate. Phosphate caused a shift of the absolute force-velocity curves of both psoas and soleus fibres towards lower values of force. In psoas fibres, the relative force-velocity curves derived by normalization of the force level to the force developed isometrically was shifted by phosphate to smaller velocities. In soleus fibres, the initial velocity at low and intermediate relative loads (less than 1.75 F0) was increased by phosphate but at higher loads it decreased, while the late force-velocity curve showed an overall decrease in velocity. 4. The force responses during isovelocity lengthening of psoas fibres showed an early rapid increase in force followed by a slow rise in force. The position of this break point in force was sensitive to the phosphate concentration. In soleus fibres, the force responses without phosphate showed an overshoot followed by a slow rise in force. The overshoot diminished with increasing phosphate concentration. 5. Phosphate and Ca2+ affected the force responses in psoas and soleus fibres in different ways. When the isometric starting levels were the same, force during and after the length change at submaximal activation was always less than at maximal activation in the presence of 15 mM-phosphate. 6. The changes in the mechanical performance during lengthening caused by phosphate in psoas as well as in soleus fibres, are in agreement with a decrease in the average force per attached crossbridge.(ABSTRACT TRUNCATED AT 400 WORDS)
A 25-year-old mother during pregnancy was treated by accident with clomifen (Clostilbegyt). Ultrasound scan, performed in the 32nd gestational week, showed polyhydramnion and abnormally short, deformed fetal limbs. The newborn male infant died 20 minutes after caesarean section. Autopsy revealed osteogenesis imperfecta accompanied by a rare vascular alteration i.e. arteriopathia calcificans infantum. The possible relationship between the two diseases and estrogen therapy is discussed.
Selective termination of the affected fetus in twin pregnancies was performed in the second trimester of seven pregnancies. The malformations included anencephaly/exencephaly (2 cases), hydrocephalus (1 case), thoracoabdominopagus of "B" and "C" cotwins (1 case), urethral obstruction sequence (1 case) and hygroma colli (2 cases). Intrauterine intervention on the affected fetus was done by transabdominal intracardial injection of 20% NaCl solution in the 15--24 weeks of gestation. All cases had dichorionic placentation. Unaffected co-twin infants were delivered at term with normal weight in 4 cases. In 2 cases the affected fetus was found in the lower gestational sac and both pregnancies, as well as the triplet pregnancy were lost 1--6 weeks and 3 weeks after the intervention, respectively. In the other cases, neither the mother, nor the survived fetus showed any complications. We believe that using hypertonic saline is lethal for the affected fetus but carries little or no risk either the other fetus or the mother, even if small amounts of the solution might inadvertently enter their circulation.
Considering that the last intrauterine growth standards were constructed more than two decades ago, the authors defined the measure of 5, 10, 25, 50, 75, 90 and 95 percentiles of birth weight on the base of Genetic and Obstetric Computer Register of East-Hungary, birth data having epidemiological value in Szabolcs-Szatmár-Bereg, Hajdú-Bihar and Jász-Nagykun-Szolnok counties in 1988-89. From the 36th week of pregnancy the mean values of birth weights between boys and girls, boys and gipsy boys, girls and gipsy girls as well as singular and twin newborn infants differed from each other significantly. Possessing these standards, the clinical judgement and supplying of the various newborn infants can be more exact.
The authors discuss their experiences from 412 chorion villus samplings, (CVS), which they have done under four and a half years since 1985. They used eight types of instruments in performing their examinations and each instrument proved to be satisfactory in the gaining of chorion villus samples, suitable for further tests. They also discuss the bacteria found most frequently in the vagina on the basis of the examination and culturing of both vaginal and cervical fluid done prior to 151 CVS examinations and the effective method with which ascending infection can be prevented. They discuss a distributional pattern of their results based on the different indications for the CVS examinations, and the outcome of each of the pregnancies after CVS. In 377 cases they did direct karyotyping, in 30 cases DNA examination and in five cases enzyme determination also occurred.
The outcome and pathological background of 182 pregnancies with mid-trimester oligohydramnios are discussed. Maternal serum alpha-fetoprotein (AFP) concentration in the 16th week of gestation was also determined in 119 cases. MSAFP in pregnancies with oligohydramnios associated urinary tract malformations was found to be mostly in the normal range, but it is often elevated in the cases without malformation. In addition, normal AFP was found in most cases, where the newborns survived the perinatal period. It can be concluded, that the elevated maternal serum AFP without ultrasonically detectable malformation refers to the extrafetal origin of the oligohydramnios, and it is recommended to take it into consideration in the genetic counselling practice.
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Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene. The delta F508 deletion was present in 64% of CF chromosomes. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV-2c: allele 1, KM-19: allele 2), which accounts for 95% of delta F508 CF chromosomes in our families.
Changes of serum estradiol, progesterone, LH, FSH, prolactin, testosterone, androstendione, DHEA and DHEAS levels during a GnRH-analogue (buserelin) treatment have been analysed retrospectively taking account of effectiveness of treatment and its relation to the beginning and duration of treatment. 1200 micrograms/day buserelin were administered intranasally from the first day of the menstrual cycle (n = 30) or the 7th hyperthermic day of the cycle (n = 22). The results proved, that the administration of buserelin to sterile women inhibits the ovarian (estradiol, progesterone) and pituitary (LH, FSH) hormone secretion during the first 10-14 days of treatment. The adrenal hormone secretion (DHEA, DHEAS) remained unaffected, whereas the androgens of ovarian origin (testosterone, androstendione) were suppressed during the GnRH analogue treatment. The serum prolactin level increased during the first two weeks of treatment and returned to pretreatment values within the following two weeks. On the basis of the faster suppression of estradiol secretion with buserelin treatment, beginning in the middle of the luteal phase, this therapy is recommended for ovarian suppression.
Intramembrane charge movement was measured on skeletal muscle fibers of the frog in a single Vaseline-gap voltage clamp. Charge movements determined both under polarized conditions (holding potential, VH = -100 mV; Qmax = 30.4 +/- 4.7 nC/micro(F), V = -44.4 mV, k = 14.1 mV; charge 1) and in depolarized states (VH = 0 mV; Qmax = 50.0 +/- 6.7 nC/micro(F), V = -109.1 mV, k = 26.6 mV; charge 2) had properties as reported earlier. Linear capacitance (LC) of the polarized fibers was increased by 8.8 +/- 4.0% compared with that of the depolarized fibers. Using control pulses measured under depolarized conditions to calculate charge 1, a minor change in the voltage dependence (to V = -44.6 mV and k = 14.5 mV) and a small increase in the maximal charge (to Qmax = 31.4 +/- 5.5 nC/micro(F] were observed. While in most cases charge 1 transients seemed to decay with a single exponential time course, charge 2 currents showed a characteristic biexponential behavior at membrane potentials between -90 and -180 mV. The voltage dependence of the rate constant of the slower component was fitted with a simple constant field diffusion model (alpha m = 28.7 s-1, V = -124.0 mV, and k = 15.6 mV). The midpoint voltage (V) was similar to that obtained from the Q-V fit of charge 2, while the steepness factor (k) resembled that of charge 1. This slow component could also be isolated using a stepped OFF protocol; that is, by hyperpolarizing the membrane to -190 mV for 200 ms and then coming back to 0 mV in two steps. The faster component was identified as an ionic current insensitive to 20 mM Co2+ but blocked by large hyperpolarizing pulses. These findings are consistent with the model implying that charge 1 and the slower component of charge 2 interconvert when the holding potential is changed. They also explain the difference previously found when comparing the steepness factors of the voltage dependence of charge 1 and charge 2.
Serum estradiol, progesterone and luteinizing hormone (LH) levels of 16 pregnant and 58 non-pregnant stimulated in vitro fertilization-embryo transfer (IVF-ET) or gamete intrafallopian transfer (GIFT) cycles have been compared with regard to their predictive value for achievement of pregnancy. Serum estradiol and progesterone pattern of the pregnant and non-pregnant group did not show any significant difference. Around the time of ovulation induction by human chorionic gonadotropin (hCG) the serum LH values proved to be higher in the non-pregnant group than in the pregnant one. In spite of having a permissive function, preovulatory serum estradiol and progesterone seem not to have a predictive value with regard to pregnancy. Elevated preovulatory serum LH is detrimental for pregnancy, therefore the measurement of serum LH beyond hCG administration also, and the cancellation of cycles with high serum LH levels shortly before oocyte retrieval is recommended.
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