Lege Artis Medicinae

[From Paternalism to Mutual Decision Making When Abortion is Justified by Renal Failure]

MAKÓ János, BLASSZAUER Béla, KAKUK Péter

DECEMBER 20, 2007

Lege Artis Medicinae - 2007;17(12)

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[MYELODYSPLASTIC SYNDROMES - NEW THERAPEUTIC OPTIONS]

GADÓ Klára

[Myelodysplastic syndrome is a heterogeneous group of acquired clonal disorders of the haematopoietic stem cell characterized by ineffective haematopoiesis, peripheral cytopenia, and a high risk of progression to acute leukaemia. It is a common malignant disease with an increased incidence in the elderly population. Classification is based on a 1999 WHO recommendation, in which morphological features as well as clinical and cytogenetic characteristics are taken into account. Combined with the International Prognostic Scoring System (1997), it is suitable to predict prognosis and response to therapy. Clinical features include symptoms caused by anaemia, infections, and bleeding. Diagnosis is based on peripheral cytopenia and dysplastic morphology, as well as normal or increased cellularity in the bone marrow, with more than 10% of dysplastic cells. The verification of cytogenetic abnormalities is important both for confirming the diagnosis and predicting the prognosis. When designing the treatment strategy, it is essential to take the risk of leukaemia into account. On the other hand, the general state of the patient and the presence of accompanying diseases should also be considered. The goal of the treatment is to increase cell count and to decrease transfusion requirement, eventually to improve quality of life. Supportive therapy is an essential part of the management. In addition, growth factors, immunosuppressive and immunomodulatory agents, low-dose chemotherapy may be applied. Today, cure can only be achieved by allogenic stem cell transplantation. Recent findings in the epigenetic intracellular regulation allowed the definition of new therapeutic targets to develop drugs such as inhibitors of DNA methyltransferase and histone deacetylase.]

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[The most common monogenic nephropathy is a congenital, cystic, bulky process in the kidney that leads to a gradual deterioration in renal function. Renal failure is often associated with cystic liver or pancreatic lesions, cerebral artery aneurysm, or mitral prolapse.]

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CANOMAD syndrome with respiratory failure

SALAMON András, DÉZSI Lívia, RADICS Bence, VARGA Tímea Edina, HORTOBÁGYI Tibor, TÖMÖSVÁRI Adrienn, VÉCSEI László, KLIVÉNYI Péter, RAJDA Cecília

CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, M-protein agglutination, disialosyl antibodies) syndrome is a rare polyneuropathy. IgM paraproteins react with ganglioside-containing disialylated epitopes resulting in dorsal root ganglionopathy and B-lymphocyte infiltration of cranial and peripheral nerves. Clinical features include ataxia, slight muscle weakness, areflexia, sensory- and cranial nerve symptoms. Case studies have reported the efficacy of rituximab and intravenous immunoglobulin (IVIg) treatments. We present the case of a 57-year-old man, who had difficulty walking, with numbness and clumsiness in all limbs. He had areflexia, vibratory sensation loss and ataxia. Laboratory tests showed IgM monoclonal components and disialosyl antibodies in the serum. Nerve conduction studies indicated severe sensorimotor demyelinating polyneuroradiculopathy. Despite IVIg and rituximab treatments, the patient’s disease course gradually worsened and he died of respiratory failure. Neuropathological examination revealed dorsal column- and dorsal root atrophy with mixed mononuclear cell infiltration. This article aims to draw attention to this syndrome, and the use of early potent immunosuppressive treatment to improve patients’ quality of life.

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[Family planning in multiple sclerosis: conception, pregnancy, breastfeeding]

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[Family planning is an exceptionally important question in multiple sclerosis, as women of childbearing age are the ones most often affected. Although it is proven that pregnancy does not worsen the long-term prognosis of relapsing-remitting multiple sclerosis, many patients are still doubtful about having children. This question is further complicated by the fact that patients – and often even doctors – are not sufficiently informed about how the ever-increasing number of available disease-modifying treatments affect pregnancies. Breastfeeding is an even less clear topic. Patients usually look to their neurologists first for answers concerning these matters. It falls to the neurologist to rationally evaluate the risks and benefits of contraception, pregnancy, assisted reproduction, childbirth, breastfeeding and disease modifying treatments, to inform patients about these, and then together come to a decision about the best possible therapeutic approach, taking the patients’ individual family plans into consideration. Here we present a review of relevant literature adhering to international guidelines on the topics of conception, pregnancy and breastfeeding, with a special focus on the applicability of approved disease modifying treatments during pregnancy and breastfeeding. The goal of this article is to provide clinicians involved in the care of MS patients with up-to-date information that they can utilize in their day-to-day clinical practice. ]

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Myasthenia gravis, Guillain-Barré syndrome, or both?

ERDOGAN Cagdas, TEKIN Selma, ÜNLÜTÜRK Zeynep, GEDIK Korkut Derya

Myasthenia gravis (MG) and Guillain-Barré syndrome (GBS) are autoimmune disorders that may cause weakness in the extremities. The coexistence of MG and GBS in the same patient has rarely been reported previously. A 52-year-old male presenting with ptosis of the left eye that worsened with fatigue, especially toward evening, was evaluated in our outpatient department. His acetylcholine receptor antibody results were positive, supporting the diagnosis of MG. His medical history revealed a post-infectious acute onset of weakness in four extremities, difficulty in swallowing and respiratory failure, which was compatible with a myasthenic crisis; however, his nerve conduction studies and albuminocytologic dissociation at the time were compatible with GBS. With this case report, we aimed to mention this rare coincidental state, discuss possible diagnoses and review all other similar cases in the literature with their main features.

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[Helicobacter pylori infection and practical questions of therapy]

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[According to our knowledge, Helicobacter pylori is a major factor in the pathogenesis of peptic ulcer disease. The prevalence of Helicobacter pylori infection is 70-80% in ulcer patients with the bacteria colonising the mucous surface of the antral mucosa. Eradication therapy against the bacteria leads to complete healing of ulcer disease in about 85-90% of cases. Indications for the eradication and recommended treatment modalities are outlined in several consensus reports; however, in everyday practice a case by case decision is necessary. Present paper summarises two different cases. In the first, the patient has suffered from several relapses of ulcer disease and a successful eradication was performed. Despite of the healing of the ulcer, this patient continued to have prolonged dyspeptic symptoms which called for maintenance antisecretory therapy. The second case is an example that even in a Helicobacter pylori infected patient there could be other reasons for the ulcer pathogenesis. Thorough examinations revealed duodenal manifestation of Crohn’s disease as the background. The message of presented cases is that in each patient individual adaptation of diagnostic and therapeutic algorithms is recommended.]