Lege Artis Medicinae

[Who is to blame for the failure of this year's TB funding rules in the LAM club]

NAGY András László

JUNE 29, 1994

Lege Artis Medicinae - 1994;4(06)

[As the parliamentary elections approached, the LAM Club organisers pondered at length how to find apolitical, "party-neutral" topics for the bi-weekly meetings. The discussion of this year's rules on health care funding seemed to be the right topic. They were wrong, the club's guests enjoyed one of the most sharply political debates. This was due firstly to recent events, and secondly to the temperament and political nature of the debate leader, Róbert Frenkl. Professor Frenkl - Editor-in-Chief of LAM - is not only an elected member of the Board of the Health Insurance Self-Government, but also ran in the elections as a candidate for the Republican Party. ]

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Lege Artis Medicinae

[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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[Aspects of hormonal therapy in prostate cancer]

ROMICS Imre

[The author describes all of the hormonal therapeutic methods presently applied in Hungary and summarizes the recommended therapies for each stage of the disease. The therapeutic alternatives of three groups of patients are discussed. Evidence in the literature demonstrates the advantages of applying hormonal therapy, in cases of incidental prostate cancer found in tissues obtained by TURP, as opposed to the „wait and see" approach. Emphasis is placed upon the ad vantages of hormonal therapy prior to radical prostatectomy, chief among them being the decrease in volume of the prostate, which simplifies the operation. A promt and total androgenic block is the proper therapy for locally advanced prostate cancer or in metastatic prostate cancer.]

Lege Artis Medicinae

[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.]

Lege Artis Medicinae

[IgE monoclonal gammopathy and amyloidosis]

JÁKÓ János, KASZÁS Ilona, GESZTESI Tamás

[ 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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Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Lege Artis Medicinae

[LAM 30: 1990–2020. Facing the mirror: Three decades of LAM, the Hungarian medicine and health care system]

KAPÓCS Gábor

Clinical Neuroscience

[The connection between the socioeconomic status and stroke in Budapest]

VASTAGH Ildikó, SZŐCS Ildikó, OBERFRANK Ferenc, AJTAY András, BERECZKI Dániel

[The well-known gap bet­ween stroke mortality of Eastern and Western Euro­pean countries may reflect the effect of socioeconomic diffe­rences. Such a gap may be present between neighborhoods of different wealth within one city. We set forth to compare age distribution, incidence, case fatality, mortality, and risk factor profile of stroke patients of the poorest (District 8) and wealthiest (District 12) districts of Budapest. We synthesize the results of our former comparative epidemiological investigations focusing on the association of socioeconomic background and features of stroke in two districts of the capital city of Hungary. The “Budapest District 8–12 project” pointed out the younger age of stroke patients of the poorer district, and established that the prevalence of smoking, alcohol-consumption, and untreated hypertension is also higher in District 8. The “Six Years in Two Districts” project involving 4779 patients with a 10-year follow-up revealed higher incidence, case fatality and mortality of stroke in the less wealthy district. The younger patients of the poorer region show higher risk-factor prevalence, die younger and their fatality grows faster during long-term follow-up. The higher prevalence of risk factors and the higher fatality of the younger age groups in the socioeconomically deprived district reflect the higher vulnerability of the population in District 8. The missing link between poverty and stroke outcome seems to be lifestyle risk-factors and lack of adherence to primary preventive efforts. Public health campaigns on stroke prevention should focus on the young generation of socioeconomi­cally deprived neighborhoods. ]

Lege Artis Medicinae

[Dear Reader! Greetings to the 30th anniversary of founding the LAM]

KAPÓCS Gábor

Clinical Neuroscience

Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.