Lege Artis Medicinae

[Sore throat]

HIRSCHBERG Andor

DECEMBER 20, 2007

Lege Artis Medicinae - 2007;17(12)

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Lege Artis Medicinae

[Ophthalmologic Examination of the Homeless in Budapest]

dr. SZALAI László

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[The Pictures of Paul Klee ]

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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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[Nobel prize for the genetic modification of stem cells]

SARKADI Balázs

Lege Artis Medicinae

[PLEIOTROPIC FUNCTIONS OF ERYTHROPOIETIN]

NAGY Judit, KISS István

[Erythropoietin produced by the foetal liver and the adult kidney is the major stimulator of erythropoiesis. Erythropoietin production is regulated by hypoxic activation of erythropoietin gene transcription. Recently, new sites of erythropoietin production have been found mainly in the central nervous system and in the cardiovascular system. These tissues have a paracrine and/or autocrine system of erythopoietin. The pleiotropic function of erythropoietin in these systems is tissue and cell protection by several mechanisms including inhibition of apoptosis, attenuation of ischaemic or reperfusion injury, anti-inflammatory and antioxidative effects. Furthermore, it promotes vascular recovery and enhances neoangiogenesis. In vivo and in vitro studies have proved that systemically administered human erythropoietin can also provide tissue protection. However, adverse effects of erythropoietin treatment such as hypertension, hyperviscosity and thrombosis may override the beneficial effect of systemic erythropoietin treatment. There are preliminary data that erythropoietin analogues, e.g., asyaloerythropoietin or carbamylated erythropoietin can provide tissue protection without stimulating erythropoiesis.]

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[The incidence of Hirschsprung disease with associated congenital anomalies]

WEISENBACH János, KONDOR Ariella, KHEZRI Seddiq, VAJDA Péter

[INTRODUCTION - Several publisactions described the association of Hirschsprung disease with other congenital anomalies. Most studies were in relation with the neurological, ophthalmological and ear-nose-throat disorders. The authors did not find any publication in the Hungarian literature presented other anomalies in patients with Hirschsprung disease. PATIENTS AND METHODS - The data of 43 patients treated for Hirschsprung disease at the Department of Paediatrics of Pécs University was analysed. The most frequent associated anomalies e. g. Down syndrome, omphalocele, anorectal malformation, annular pancreas, torticollis, syndactylia, Meckel diverticulum, upper urinary tract disorder and undescendent testis were studied. The patients who had several congenital anomalies were evaluated separately as well as those having congenital inguinal hernia. The authors compared the number of congenital anomalies occurred in patients with Hirschsprung disease with the incidence of these congenital disorders occurred in non-Hirschsprung patients in the literature. RESULTS - Among 43 patients, 6 children had associated congenital anomalies. 3 patients had only one of the following disorders: undescendent testis, urinary tract duplication and Down syndrome. 3 patients suffered from multiplex congenital anomalies: 1. Down syndrome with annular pancreas and torticollis. 2. Omphalocele, anal atresia, vesicoureteric reflux and syndactylia. 3. Anus atresia, Meckel diverticulum and limb (radius) hypoplasia. In addition 3 patients had other anomalies such as unilateral and bilateral inguinal hernia and umbilical hernia. CONCLUSION - On the basis of our results we can state that the incidence of other associated congenital anomalies are higher in patients with Hirschsprung disease. Single organ developmental anomaly is rare, it usually occurs in association with multiorgan disorders. Most likely this is the explanation why patients with Hirschsprung disease have more associated anomalies.]

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[Operative treatment of pressure sores of the pelvic region in spinal cord-injured patients]

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[by either conservative or surgical methods. Shortened healing period and long lasting results can be achieved by surgery. Between 1993 and 2001 the authors performed 64 operations with musculocutaneous or musculo-fasciocutaneous flaps in all cases. All patients healed primary except one, whose 20-year-old pressure sore transformed malignant and gave metastasis. The complication rate was 21.42%, that equals with the data of the literature. Measuring the late postoperative results by follow-up questionnaire, a 9.52% ratio of recurrence was found, which was significantly smaller than data of the literature (19-82%). Authors analyse the causes of their (good) results.]

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[The development and healing of pressure ulcers depends on a combination of several factors. The factors related to the patient (physical impacts, biological and psychosocial factors), as well as the influencing factors arising in relation to the lingering wound (e.g. the content, situation, size and blood supply of the sore, the condition of the wound bed, the presence of infection, the response to treatment) are all closely related to the patient’s general condition and the underlying disease. An important role is also played by the factors associated with the healthcare personnel (ability, professional qualifications, attitude), and the healthcare system (level of technical and economic advancement, preventive and wound care equipment, quality assurance, training). The author has set out to give a detailed description of these factors, supported by professional evidence. ]

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[Atypical forms of the gastroesophageal reflux disease]

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[There is growing interest in the gastroenterology literature towards gastroesophageal reflux disease (GERD) these days. The prevalence of the disease is much higher than estimated earlier and it frequently appears in atypical forms. Literature data suggests that 30-40% of the individuals suffer from gastroesophageal reflux disease. A broad spectrum of presentation of gastroesophageal reflux disease exists, e.g. noncardiac chest-pain, ear-nose-throat symptoms, pulmonary symptoms, dental erosions, chronic cough and hiccups. Atypical forms often cause diagnostic and treatment difficulties. Authors analyze the frequency, morbidity and the pathomechanism of the extraesophageal manifestations, based on self-experience. The main goal of the review is to help to establish the diagnosis of GERD, to recognize its atypical signs and to outline the diagnostic steps to be taken. Most up-to-date treatment strategies are also presented. By the demonstration of interesting cases, authors emphasize the diagnostic importance of intragastric pH-monitoring.]