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

[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

[The role of diet in the prevention of musculoskeletal diseases]

SPEER Gábor, SPEER Józsefné

[In the European Union, the lowest incidence of osteoporosis and rheumatoid arthritis has been reported in the Mediterranean area. However, for a long time only a few nutrients’ effects have been studied on BMD. Of these, the favourable effects of wine, fermented cheese and fruit and vegetable consumption have been demonstrated in the alleviation of both osteoporosis and rheumatoid arthritis. A number of promising studies are being conducted with analogues of antioxidant components of the mediterranean diet. Some of these components decrease the levels of pathological factors, such as interleukin-1, -6, -17, TNF-α, JAK2/STAT3, which are the targets of a number of efficient drugs. These findings demonstrate the significance of diet in the development of musculoskeletal diseases. In our review article, we present the above mentioned data, illustrated by some of our own recipes.]

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

[Radiological examinatons in multiple myeloma]

GYŐRI Gabriella, MAGYAR Péter, NAGY Zsolt

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

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Hypertension and nephrology

[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.]

Clinical Neuroscience

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]

MOLNÁR Mária Judit, BORSOS Beáta, VÁRDI Visy Katalin, GROSZ Zoltán, SEBÕK Ágnes, DÉZSI Lívia, ALMÁSSY Zsuzsanna, KERÉNYI Levente, JOBBÁGY Zita, JÁVOR László, BIDLÓ Judit

[Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.]

Hypertension and nephrology

[On the safety of angiotensin-receptor blockers - A new attack on this drug class]

FARSANG Csaba

[Up until now, angiotensin-receptor blockers have been considered to be the safest cardio-, cerebro-, reno- and vasculoprotective drugs. In a previous metaanalysis, ARBs were accused of increasing the risk of myocardial infarction, but a number of metaanalyses and randomised, controlled trials have disproved this hypothesis. In a recent metaanalysis, ARBs were associated with an increased risk of tumours. The author reviews this issue, discusses the flaws of the above metaanalysis and, on the basis of the most up-to-date data in the literature, expert opinions and official statements (FDA, EMA), concludes that members of this drug class should continue to be used according to their approved indications, which is supported by their cardio-, reno-, cerebro- and vasculoprotective effects demonstrated in a number of appropriate, large-scale clinical studies.]

Lege Artis Medicinae

[Double thyroid cancer]

HAJDU Mária, KRUTSAY Miklós

Clinical Neuroscience

[Behavioral and cognitive profile of corpus callosum agenesia - Review]

LÁBADI Beatrix, BEKE Anna Mária

[Introduction - Agenesis of corpus callosum is a relatively frequent congenital cerebral malformation including dysplasia, total or partial absence of corpus callosum. The agenesis of corpus callosum can be occured in isolated form without accompanying somatic or central nervous system abnormalities and it can be associated with other central nervus system malformations. The behavioral and cognitive outcome is more favorable for patients with isolated agenesis of corpus callous than syndromic form of corpus callosum. The aim of this study is to review recent research on behavioral and social-cognitive functions in individuals with agenesis of corpus callosum. Developmental delay is common especially in higher-order cognitive and social functions. Methods - An internet database search was performed to identify publications on the subject. Results - Fifty-five publications in English corresponded to the criteria. These studies reported deficits in language, social cognition and emotions in individuals with agenesis of corpus callosum which is known as primary corpus callous syndrome. Discussion - The results indicate that individuals with agenesis of corpus callosum have deficiency in social-cognitive domain (recognition of emotions, weakness in paralinguistic aspects of language and mentalizing abilities). The impaired social cognition can be manifested in behavioral problems like autism and attention deficit hyperactivity disorder.]