Biomedical subjects
Publications and source records attributed to C Papp.
The authors review the most common congenital anomalies of the central nervous system (CNS): neural tube defects (NTDs), ventriculomegaly/holoprosencephaly, hydranencephaly, holoprosencephaly sequence, iniencephaly, and microcephaly. They emphasize the importance of the diagnostic tools (biochemical markers of the maternal serum, ultrasound screening, invasive techniques), methods which are complementary to each other.
Tricuspid atresia is the third most common cyanotic cardiac malformation, seen in 1 per cent of children with congenital heart disease. It occurs in 4-5 per cent of congenital heart defects diagnosed prenatally, this difference is a consequence of a high percentage of intrauterine death these severely ill fetuses. Initial surgical treatment is palliation, usually with aortopulmonary shunt. Definitive treatment is the Fontan operation, when the systemic venous return is connected directly to the pulmonary tree. Five-year survival for liveborn patients is 50, but for prenatally diagnosed fetuses only 20%. In Hungary there is only a few survivor. Authors have diagnosed 20 tricuspid atresias during a five-year period by fetal echocardiography. In two cases the postnatal findings were: normal tricuspid valves, univentricular atrio-ventricular connection and stenosis of the pulmonary artery, in one case dysplastic tricuspid valves, hypoplastic right ventricle and stenosis of the pulmonary artery. Authors summarise their experiences with prenatal echocardiography of tricuspid atresia and describe characteristic signs could be found by routine ultrasound screening of this severe cardiac malformation.
The atrioventricular septal defect is usually associated with trisomy 21 and it may be observed in the heterotaxia syndromes. Atrioventricular septal defect may be associated with 8p deletion. There are reported cases of familial atrioventricular septal defect. Atrioventicular septal defect is rarely associated with other chromosomal abnormalities. We are reporting three unusual cases of atrioventricular septal defect that were associated with trisomy 13, 18 and 22. This association may be due to effect of genetic loci on the 13, 18 and 22 chromosome which could play the role in the development and fusion of endocardial cushion and atrioventricular septal defect.
(Report of four cases and review of the literature) Calcification of the myocardium is a rare condition. The cause may be dystrophic or metastatic. An autosomal recessive inherited idiopathic arterial calcification of infancy is more rare abnormality. A dystrophic calcification is the more common of the three and may occur in areas of necrosis, hemorrhage, or fibrosis of the myocardium. Metastatic calcification is associated with hyperparathyroidism, D hypervitaminosis or renal failure, usually accompanied by the deposit of calcium in other organs, particularly the lungs, stomach, kidneys, spleen and liver. Authors report four cases of myocardial calcification diagnosed in intrauterine life. They give a review of literature of fetal and neonatal myocardial calcification.
Atrioventricular septal defect also known as endocardial cushion defect is severe congenital heart disease which is often associated with chromosomal abnormalities (30-50%) or is a part of a malformation syndrome (30%). Between 1, october 1992, and 30, september 1996. 21 cases were diagnosed prenatally. The chromosomal analysis found in 1 case trisomy 18, in 1 case trisomy 22 and in 7 cases trisomy 21. In 7 cases atrioventricular septal defect was part of Ivemark syndrome, none of them had chromosomal abnormality, except 1, who had trisomy 18. Out of 21 cases there was only one survivor. None of cases associated with Ivemark syndrome survived. In 4 cases sibs or parents had congenital heart disease. Four mother were above 40 years. The report summarises the most important abnormalities in the prenatal diagnosis of endocardial cushion defect and echocardiographic and embryopathologic foundings.
Calcification of the heart and vessels in fetuses is a rare condition. It may be dystrophic or metastatic. An extremely rare form of vascular calcification has been termed 'idiopathic arterial calcification of infancy', which is inherited in an autosomal recessive pattern. We report four cases of myocardial calcifications of different origin diagnosed in utero. The correct diagnosis is very important in regard to genetic counselling.
Failure of nerve repair or poor functional outcome after reconstruction can be influenced by various causes. Besides improper microsurgical technique, fascicular malalignment and unphysiologic tension, we found in our clinical series that a subclinical nerve compression distal to the repair site can seriously impair regeneration. We concluded that the injured nerve, whether from trauma or microsurgical intervention, could be more susceptible to distal entrapment in the regenerative stage because of its disturbed microcirculation, swelling and the increase of regenerating axons followed by increased nerve volume. In two cases we found the regenerating nerve entrapped at pre-existing anatomical sites of narrowing resulting in impaired functional recovery. In both cases the surgical therapy was decompression of the distal entrapped nerve and this was followed by continued regeneration. Thorough clinical and electrophysiologic follow-up is necessary to detect such adverse compression effects and to distinguish between the various causes of failed regeneration. Under certain circumstances primary preventive decompression may be beneficial if performed at the time of nerve coaptation.
Between 1985 and 1995, 72 free lateral arm flaps (LAFs) were transferred in 68 patients. The main purpose of the reported study was to demonstrate a comprehensive follow-up and essential technical refinements: extension of the flap, shaping of a custom-designed flap, the "emergency" free flap, and sensible nerve coaptation. The effect of nerve coaptation vs. no nerve coaptation was investigated by measuring objective and subjective grades of sensibility at the recipient site. The outcomes of sensory flap reinnervation showed no significant advantages of one over the other technique. The second intention was to clarify discrepant anatomic descriptions concerning the nomenclature of the supplying blood vessels. Current anatomic investigations revealed that the main blood supply derives from the posterior radial collateral artery (anastomosing with the interosseous recurrent artery); blood supply via the anterior radial recurrent artery (anastomosing with the radial recurrent artery) has a secondary importance.
Breast-conserving therapy, which aims to reduce trauma by preserving as much of a patient's natural appearance as possible, does not necessarily lead to an optimal cosmesis. We hypothesized that combining plastic and oncologic surgeries would greatly reduce the physical and psychological traumas and produce an optimal cosmesis without impairing the oncologic outcome. We performed breast reconstruction on 40 cancer patients. Of those 40 patients, 15 received combined plastic and oncologic surgeries. Procedures depended on breast size: mammareduction plasty in cases with sufficient volume, and reconstruction using myocutaneous latissimus dorsi flaps for those with less volume. Cosmetic results were rated good to poor. Of the 15 primary reconstruction patients, 86.7 percent of the cases showed good results and 13.3 percent fair; in the secondary cases, 68 percent were good, 16 percent fair, and 16 percent poor. Through a follow-up and cosmetic evaluations by both surgeons and patients, the study showed that combining aesthetic improvements and oncologic surgery does not compromise patient safety, reduces mental and physical trauma, and frequently results in superior cosmesis, thereby improving the patient's overall health.
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.
Estradiol (E) primes human endometrial stromal cells (HESCs) for the decidualizing effects of progesterone in vivo and in vitro. Matrix metalloproteinase (MMP) expression was evaluated in confluent HESCs incubated in control medium, and in medium supplemented with either E, or the synthetic progestin medroxyprogesterone acetate (P), or E + P. Measurements with a specific ELISA indicated that basal pro-MMP-1 output was unaffected by E, whereas E + P, which induces the expression of several decidualization-related markers, produced a time-dependent inhibition in HESC-secreted levels of pro-MMP-1. Consistent with progestin inhibition of MMP-1 protein expression in the HESCs, P but not E, reduced steady state levels of MMP-1 messenger RNA (mRNA) as determined by Northern analysis. By contrast, mRNA levels for MMP-2 and the MMP inhibitor TIMP-1 were not altered by either P or E. Steroid withdrawal studies indicated that after MMP-1 expression was suppressed by incubation of the HESCs with E + P, 4 days of exposure to the antiprogestin RU 486 (mifepristone) significantly up-regulated MMP-1 levels in the conditioned medium by severalfold compared with cultures maintained in E + P. The change to steroid-free control medium required a more prolonged period of withdrawal to attain up regulatory effects that were comparable with those evoked by RU 486. The ELISA measurements were validated by immunoblot analysis with a specific MMP-1 antibody, which showed corresponding changes in a band at the expected mobility of about 50 kDa. Moreover, Northern analysis revealed parallel changes in MMP-1 mRNA levels, whereas neither MMP-2 nor TIMP-1 mRNA levels were modulated by adding or withdrawing steroids. The contrast between regulated MMP-1 expression and constitutive MMP-2 expression observed in the cultured HESCs is consistent with the demonstrated presence on the MMP-1 promoter of regulatory elements such as AP-1 and PEA-3 that are absent from the MMP-2 promoter. Extrapolation of these in vitro changes in HESCs to in vivo endometrial events suggests that: 1) inhibition of MMP-1 expression by E and progesterone would stabilize the perivascular endometrial ECM to prevent local hemorrhage during endovascular invasion by the implanting trophoblast; 2) enhanced expression of MMP-1 evoked by steroid withdrawal would mediate endometrial ECM degradation leading to sloughing of the functional layer during menstruation.
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.
This article discusses the authors' experience with the reliable and easily shaped autogenous latissimus flap. The design and shaping of the flap are discussed as well as its use for both immediate and delayed reconstructions.
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.
Authors describe two cases of lead poisoning of unusual origin. A 43 year old male patient bought some waste metal in order to build a fence around his new house for saving money. He removed the old corroded coat of paint using a grinder without any protection. Consequently, he had got grave lead intoxication with colic and anemia. Another 34 year old unemployed male person moulded leaded chessmen in his own kitchen. This activity resulted in serious intoxication of the patient and highly increased lead absorption of the family members. In addition to the exploration of professional exposure the authors stress also the significance of the clearing up of occasional lead-related hobbies and home activities in case of lead intoxication of unknown origin.
Between January 1, 1993, and April 30, 1996, authors treated 23 fetuses with severe rhythm disturbances in their Department. The correct diagnosis was made by fetal echocardiography. They had 15 tachyarrhythmic and 8 bradyarrhythmic patients. They found hydrops fetus at 7 patients because of atrial flutter (2 fetuses), supraventricular tachycardia (4 fetuses) and severe bradycardia (1 fetus). They treated successfully 13 patients with antiarrhythmic therapy given to the mother. They had 1 intrauterine death (treated because of bradycardia) and 1 neonatal death (hydropic because of supraventricular tachycardia). The causes of severe bradycardia were maternal antibody (3 fetuses), cardiac malformation (3 fetuses) and large number of blocked atrial extrasystoles. The prognosis of fetal tachycardia is good even in cases of fetal hydrops. The prognosis of bradycardia due to heart abnormalities is poor.
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It is reported on a prenatal determination of fetal RhD blood group from blood of a sensitized RhD-positive mother at 11th week gestation. The result was confirmed by a subsequent amplification of fetal DNA obtained by chorionic villus biopsy. It is supposed that in sensitized pregnancies the high number of fetal RhD-positive red blood cells in maternal blood is enough to be detectable by polymerase chain reaction.