LAM KID

[Somatic oncogene mutations in thyroid tumours]

TOBIÁS Bálint1, KÓSA János Pál1

MAY 30, 2013

LAM KID - 2013;3(02)

AFFILIATIONS

  1. Semmelweis Egyetem, I. Sz. Belgyógyászati Klinika

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Further articles in this publication

LAM KID

[Potential antiosteoporotic agents from plants]

BALLA Bernadett

LAM KID

[Modern medical and dietary treatment of gout in light of the new American guidelines]

SZEKANECZ Zoltán

[After several decades of “silence”, in the past few years a number of new data and treatment options have become available regarding the management of hyperuricaemy and gout. We also have a better understanding of the immunpathogenic processes of the disease, resulting in new medicines, as well as dietary and lifestyle modifications. Finally, in 2012, the American College of Rheumatology (ACR) has published new guidelines, which provide detailed algorhythms for each stage of gout and for special clinical situations. Although some aspects of clinical practice in Europe are different from that in the US, the new guidelines are applicable - with the necessary adaptations - in Hungary for the efficient treatment of gout and its comorbidities.]

LAM KID

[A magnézium és csonthatásai]

BAJNOK Éva

[Since 1932, a number of animal studies have demonstrated the correlation of hypomagnesaemia and hypocalcaemia, and the variety of skeletal abnormalities resulting from low magnesium (Mg) intake. Several studies have shown that patients with osteoporosis have a decreased serum magnesium level, which is related to decreased bone mineral content and increased bone fragility. Mg has multiple physiological effects, thus it is not surprising that dozens of hypomagnesaemia-related diseases and symptoms have been reported. Adequate Mg concentration is necessary for the secretion of parathormone and its effect on target organs, activation of vitamin D in the kidney, the maintenance of calcium homeostasis, bone mineralisation and regeneration. Mild hypomagnesaemia is associated with general, atypical symptoms, whereas severe Mg deficiency is a life-threatening condition. Its concentration should be measured in serum and urine. Mg metabolism is determined by its absorption from the intestines and reabsorption in the kidneys. Recently revealed details of these processes give some insights into the mechanisms underlying a number of Mg deficient conditions related to genetic or medical reasons. Mg supplementation may be indicated for patient populations with the highest risk of hypomagnesaemia. For supplementation, the recommended total Mg dose is 350 mg, first in higher doses, several times per day for a longer period, complemented with Ca and K supplementation. Overdosing can only occur in patients with impaired renal function, which necessitates careful monitoring. Adequate Mg supplementation is an inexpensive, safe and effective preventive and therapeutic option for many diseases.]

LAM KID

[Comment and reactions on the recommendations of EMA’s Committee for Medicinal Products for Human Use (CHMP) and Pharmacovigilance Risk Assessment Committee (PRAC) about strontium ranelate, April 2013]

POÓR Gyula, SZEKERES László, LAKATOS Péter

LAM KID

[Calcium supplementation uncovering lactose intolerance - a case report]

SPEER Gábor

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[Association between cyclothymic affective temperament and hypertension]

NEMCSIK János, BATTA Dóra, KŐRÖSI Beáta, RIHMER Zoltán

[Affective temperaments (cyclothymic, hypertymic, depressive, anxious, irritable) are stable parts of personality and after adolescent only their minor changes are detectable. Their connections with psychopathology is well-described; depressive temperament plays role in major depression, cyclothymic temperament in bipolar II disorder, while hyperthymic temperament in bipolar I disorder. Moreover, scientific data of the last decade suggest, that affective temperaments are also associated with somatic diseases. Cyclothymic temperament is supposed to have the closest connection with hypertension. The prevalence of hypertension is higher parallel with the presence of dominant cyclothymic affective temperament and in this condition the frequency of cardiovascular complications in hypertensive patients was also described to be higher. In chronic hypertensive patients cyclothymic temperament score is positively associated with systolic blood pressure and in women with the earlier development of hypertension. The background of these associations is probably based on the more prevalent presence of common risk factors (smoking, obesity, alcoholism) with more pronounced cyclothymic temperament. The scientific importance of the research of the associations of personality traits including affective temperaments with somatic disorders can help in the identification of higher risk patient subgroups.]

LAM Extra for General Practicioners

[THE DIAGNOSTIC VALUE OF A GLASS OF SODA WATER IN CASE OF A CARDIAC SPACE-OCCUPYING LESION]

PÁLINKÁS Attila, CZAKÓ László, CSÁSZÁR Ildikó, NAGY Edit, SZABÓ Marianna

[INTRODUCTION - Large hiatal hernias may result in cardiac space-occupying lesions. Our case study discusses the clinical aspects and the possible diagnostic approaches for such large hiatal hernias that cause cardiac compression. CASE REPORT - In an elderly patient with no cardiovascular symptoms, transthoracic echocardiography revealed a left atrial space-occupying mass. The diagnosis regarding the origin of the cardial mass was clarified by a glass of soda water drunk by the patient during echocardiography, as it resulted in a decrease in the inhomogenous echodensity of the mass and the appearance of “contrast bubbles” within it. This phenomenon suggested the presence of a large hiatal hernia compressing the heart, which was confirmed by gastroscopy and upper gastrointestinal barium examination. CONCLUSION - Drinking soda water during transthoracic echocardiography can help to diagnose lesions that look like intracardial tumours.]

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[Intimal sarcoma of the pulmonary artery]

NAGY Pál, TOMCSÁNYI István, MAGYAR Éva

[INTRODUCTION - Malignant tumours arising from the wall of the pulmonary artery or the aorta are very rare. Two types are known, leiomyosarcoma and intimal sarcoma. Intimal sarcoma is usually associated with a thrombus that may close the lumen, which complication being important in case of pulmonary artery tumours. Such tumours can be diagnosed by magnetic resonance imaging (MRI). CASE REPORT - A 42-year-old woman was hospitalized with an anamnesis of three months of subfebrility/fever, dyspnea and hemoptysis. Right-sided pulmonary thromboembolism and exudative pleuritis were diagnosed. MRI findings suggested a tumour of the right pulmonary trunk. She underwent surgery with extracorporeal circulation; and a compact mass with a connected thrombus filling the right pulmonary trunk and its hilar branches were removed by thromboendarterectomy. Histology revealed intimal sarcoma of the pulmonary artery. The patient died of this tumour’s progression four years later. CONCLUSION - In case of pulmonary thromboembolism the possibility of intimal sarcoma has to be considered. Vascular tumours can be proven or excluded by MRI.]

Clinical Neuroscience

[Mutation analysis of alpha-galactosidase A gene in Hungarian Fabry patients]

LÁSZLÓ Aranka, TÖRÖK László, RAFFAI Sarolta, TÖRÖK Éva, SALLAY Éva, ENDREFFY Emőke, MORVAI László, AMSTEL Ploos Van JK

[Aim was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients. Methods - Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene. Results - Case 1. (19 y. male patient) Mutation analysis was done for alpha-galactosidase gene, a missence mutation has been identified in the 5th exon, the aspartic acid at codon 266 has been substituted by a tyrosine (notation D266Y) due to a G-T transversion at position 10287 of the alpha GAL-A gene. Case 2. (28 y. male Fabry patient) The GAL-A mutation has been proven to be R220X mutation in exon 5 of the alpha-galactosidase A gene.]

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[Thyroid hormone replacement in old age - practical advices]

SZABOLCS István