Lege Artis Medicinae

[Familiar breast cancer]

D. G. R. Evans, I. S. Fentiman, M. McPherson, D. Asbury, B. A. J. Ponder, A Howell

JUNE 29, 1994

Lege Artis Medicinae - 1994;4(06)

[There is now clear evidence that a small proportion of breast cancers, perhaps 4-5%, are due to high penetrance dominant genes (1-4). The publicity surrounding the issue of breast cancer today, the national screening programme (5) and attempts at prevention have increasingly focused the attention of affected families on the disease. This has led to the need for advice on risk factors and what to do about them. Women want to know about the risk not only for themselves but also for their daughter.]

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[Embryonic diagnostic possibilities prior to implantation]

SZTANYIK László, URBANCSEK János, BÁRÁNDY Zsolt, TÓTH-PÁL Ernő, PAPP Zoltán

[A longlasting goal of the medical science has been the prevention of birth defects. Prenatal diagnosis, which is one of the most important subspecialities in modern obstetrics, has developed significantly in the last 10–20 years and has become a powerful tool in fulfiling this aim. The rapid development of the fields of molecular biology, genetics and assisted reproduction has ereated the possibility of introducing the new era of preimplantation genetic diagnosis. Preimplantation genetic diagnosis involves the genetic analyses of the fertilized pre-embryo, without changing its developmental capability or its original characteristics. The most well proven method is the biopsy and rapid genetic analysis by polymerase chain reaction and in situ hybridization of one or two cells removed from the in vitro fertilized pre-embryo. This technique can be used to determine the sex of the pre-embryo or to investigate specific genetic diseases. Numerous other methods have been tried, and the more successful ones are briefly discussed. ]

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[Treatment of posttransplant polyglobulia with enalapril]

JÁRAY Jenő, HEMANGSHU Podder, HÍDVÉGI Márta, REMPORT Ádám, PERNER Ferenc

[Posttransplant polyglobulia is not a rare complication following kidney transplantation. Recently in some publications favourable experiences were reported with angiotensin converting enzyme inhibitors in the treatment of polyglobulia. Among 325 patients having kidneys transplanted by authors, polyglobulia was found in 52 patients (16%) after an average of 19,5 months (2,5– 44,2 months) following the operation. In 48 cases, 5 mg enalapril was given orally, independent of the body-weight, for the treatment of polyglobulia. Among them 12 patients – 2 for allergic skin-reactions and 10 for irregular medication – were rejected from the study. During the monthly follow-up of laboratory parameters (Hbg, serum creatinine, serum bilirubin, serum alcalic phosphatase) as well as in the blood pressure (systolic/diastolic) no substantial (significant) difference was found compared to the starting value in the treated 36 patients. The only essential change was the change in the haematocrit level: there was a significant decrease in the haematocrit level after two months from the starting time and this remained so during the investigation. From this study and follow up the authors recommend treating the poly globulia found after the kidney transplantations with enalapril in place of the bilateral nephrectomy used earlier. This treatment is more pleasant for the doctor and the patient.]

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[ IgE myeloma is a very rare disease with only 38 cases reported in the world literature. The authors describe a case of IgE monoclonal gammopathy leading to primary amyloidosis and death in 5 months. This is the first reported IgE monoclonal gammopathy in Hungary. Diagnosis was based on the immunochemical analysis of the concentrated urine. Histologic analysis relevaled amyloidosis. Despite the fact that IgE myeloma is a rare entity, its clinical presentation is highly variable. This case of IgE myeloma presented itself clinically as amyloidosis. Free light chains could be detected from the patient's serum during the entire course of the clinically active disease. In contrast, heavy chains were not detectable, and therefore immunochemical analysis of the concentrated urine is recommended to help in establishing the diagnosis.]

Lege Artis Medicinae

[News]

[The 1st National AIDS Conference; Pharmaceutical production with international cooperation; The turbuhaler in Hungary; Markusovszky Memorial Medal for the President of the Chamber; IV. annual meeting of the Hungarian Psychiatric Society; Astra scholarship for gastroenterologists]

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