Lege Artis Medicinae

[Phenylketonuria due to phenylalanine hydroxylase deficiency - a revealing story]

AUGUST 31, 1993

Lege Artis Medicinae - 1993;3(08)

[Effective neonatal screening for phenylketonuria and the availability of a lifelong diet have virtually eliminated the severe mental impairment that results from this disease. The risk of fetal harm to women with the disease remains high, and the possibility that the diet itself may be harmful cannot be excluded. Research into the preventive treatment of the disease has been greatly aided by advances in molecular genetics. For example, modified liver cells have been implanted into mice which not only corrected the phenylalanine deficiency but remained functional throughout the normal lifespan of the animal. However, prevention and treatment have not progressed as quickly as hoped and, given current thinking on the disease, research and development needs to continue apace. ]

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Lege Artis Medicinae

[The relationship between genetic polymorphism of apolipoprotein E and atherosclerosis and its relevance with clinical practice]

CSÁSZÁR Albert

[The lipoprotein metabolism, having crucial role in atherogenesis is regulated by apolipo proteins, lipoprotein receptors and lipidtrans ferase enzymes. The genetic polymorphism of these proteins has been reported to be associated with lipid disorders. Beneath the rare forms (familial hypercholesterolemia, familial defective apo B syndrome) the most important monogenetic dyslipoproteinemia seems to be related to the apolipoprotein E polymorphism. The mean serum cholesterol concentration is influenced by the different apo E phenoytpes (E4 with high, E2 with low cholesterol level). In Hungary, the allele-frequencies (22 0,06, 22 0,80, 34 0,12) and the effect of apo E alleles on cholesterol concentration are very similar to the results found in other populations. Apo E polymorphism shows association with 1. hyperlipoproteinemia type III (E 2/2); 2. dyslipoproteinemia in familial hypercholeste rolemia (E2); 3. premature coronary heart disease (E4); 4. hypercholesterolemia in some populaton (E4); 5. insulin dependent diabetes mellitus in the Hungarian population (E2); 6. the rate of intestinal cholesterol absorption in some population (E4 with higher capacity). In such conditions the determination of apo E phenotype or genotype is very important to reveal the risks of the atherosclerosis and to asses the optimal hypolipidemic therapy.]

Lege Artis Medicinae

[Transvaginal color doppler in early pregnancy]

SZABÓ István, CSABAY László, NÉMET János, PAPP Zoltán

[The authors performed serial examinations using a transvaginal transducer with color Doppler facilities in normal and pathologic early pregnancies in order to examine the circulatory changes in the female genital tract and developing embryo. This is a preliminary study demonstrating the application of TVCD and summarizing the main circulatory characteristics in early pregnancy as a part of a detailed program investigating circulation in the first trimester of pregnancy. Parallel with the implantation as a result of trophoblast induction the branches of the uterine arteries can be visualized by TVCD, and characteristic ilus velocity waveform can be identified in each portion of this network. No diastolic flow can be detected in the embryonic arteries until 12–14 weeks of gestation. The fetal heart rate shows a characteristic change between the 5th and the 14th week of gestation. Examination of the circulatory changes in pathologic early pregnancies helps to establish an exact clinical diagnosis and to choose the proper treatment. The recent advent of the transvaginal probe with color Doppler imaging has permitted accurate studies of the circulatory changes in the female reproductive organs to be performed and provided more information about physiologic and pathologic processes in early pregnancy than all the non-invasive systems developed previously. ]

Lege Artis Medicinae

[Correspondence]

GÁBOR Zsuzsa

[In the May issue of your newspaper, we published the musings of doctor Lajos Matos, who complained about the "pains of screening". It is feared that a supplement could be filled with not so much refuting the arguments put forward to justify his concerns, but rather adding to them. It is worth reflecting, however, at least at the level of the list, because the train of thought, which has forgotten important aspects (and facts), has led to a very depressing conclusion. ]

Lege Artis Medicinae

[Relative antithrombotic effects of aspirin and of F(ab')2 fragments of an antibody blocking glycoprotein IIB/IIIA receptor]

KISS Róbert Gábor, JEAN-MARIE Stassen, TANIA Roskams, DÉSIRÉ Collen

[The antithrombotic effect of heparin (control group, 100 U/kg bolus and 50 U/kg/hr infusion), of heparin and aspirin (ASA group, 10 mg/kg bolus) and of heparin and F(ab')2 fragments of the murine monoclonal antibody against the platelet glycoprotein lib/Illa (GPIb/Illa) receptor (7E3-F/ab'/2 group, 0.8 mg/kg bolus) were studied in 3 groups of dogs with a 3 cm long everted (inside-out) segment of the carotid artery inserted into the femoral artery and a superimposed constriction which reduced blood flow to 35% of baseline.ASA and 7E3-F(ab')2 caused inhibition of ex vivo platelet aggregation with a decrease from 63 + 8 to 16 + 10% (mean + SEM, p < 0.001) in the ASA group and from 57 £ 5 to 0% in the 7Ė3-F(ab”)2 group. The template bleeding time increased in the ASA group (from 1.4 + 0.2 to 2.9 + 0.4 min, p < 0.05) and in the 7E3-f(ab')2 group (from 1.4 + 0.2 to 51 + 12.6 min, p < 0.001). In the control group the everted segments occluded and remained closed in 6 dogs and showed cyclic flow reduction phenomena in the 5 other dogs. In the ASA group inserted arteries occluded and remained closed in 5 dogs and showed cyclic flow reduction in 4 dogs; one segment remained open (p = 0.69 compared to control). In the 7E3-F(ab')2 group all segments remained patent (p < 0.001 compared to the control and to the ASA group). Thus, the GPllb/Illa blocking monoclonal antibody is significantly more effective than aspirin in the prevention of platelet mediated arterial occlusion. ]

Lege Artis Medicinae

[Significance of intracranial lipomas in connection with a rare case ]

CSERNI Gábor

[Intracranial lipomas are rare lesions which are diagnosed in about 0,08% of autopsy cases. An intracranial lipoma in the left Sylvian area of a 93 year old woman was incidentally observed during autopsy. Histological findings supported the diagnosis based on the macroscopic characteristic features. Intracranial lipomas, which are predominantly localized in the median areas are presently considered as develop mental anomalies of the subarachnoid space and not as real tumors. The theory of their pathogenesis explains the other developmental brain anomalies that are often associated with the lesion, as well as the finding of intralipomal vessels and cranial nerves. Though such lipomas are usually asymptomatic, several cases were demonstrated to be associated with seizures. Other symptoms may include hydrocephalus, headaches, behavio ral disorders, focal neurological signs. Diagnosis is based on CT or MRI findings. Intracranial lipomas are usually treated symptomatically and surgical treatment is seldom indicated In most cases shunt operations are performed, since resection is difficult and complete relief of symptoms cannot be expected as a result. ]

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Lege Artis Medicinae

[History of vaccine production in Hungary ]

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[This study presents the complete history of the Hungarian vaccine production, partly in association with the process of fighting vaccine-preventable infectious diseases, and underlines the fact that every government actively contributed to the age-adjusted mandatory vaccination schedule of the past 140 years. It demonstrates the various achievements from the smallpox lymph production through the launch of diphtheria serum production at Phylaxia and the establishment of the National Public Health Institute (OKI) with its vaccine production and the later institutional transformation of OKI into Humán as economic corporation to its closure. Among all OKI’s vaccine production activities, this study focuses on the production of influenza vaccines, due to its international importance in the 1960s and 1970s. The vaccine production against diphtheria tetanus and pertussis stands out from Humán’s activities, and the tetanus component of this vaccine is still used in the products of a multinational vaccine manufacturer. ]

Lege Artis Medicinae

[Focus on Lege Artis Medicinae (LAM)]

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