[Somatic oncogene mutations in thyroid tumours]

TOBIÁS Bálint1, KÓSA János Pál1

MAY 30, 2013

LAM KID - 2013;3(02)


  1. Semmelweis Egyetem, I. Sz. Belgyógyászati Klinika



Further articles in this publication


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


[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.]


[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.]


[A magnézium és csonthatásai]


[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.]


[Radiological examinatons in multiple myeloma]

GYŐRI Gabriella, MAGYAR Péter, NAGY Zsolt


[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]


All articles in the issue

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Hypertension and nephrology

[Association between cyclothymic affective temperament and hypertension]


[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.]

Journal of Nursing Theory and Practice

[Assessing Quality of life of Women with Cervical Cancer After Treatment]


[To assess sexual function, functionality and quality of life in women with cervical cancer. Descriptive, cross-sectional, quantitative, non-random, purposive sampling of women (N=91) with FIGO stage I/II/III cervical cancer, more than 5 months after last treatment. The study used standard questionnaires with self-designed questions. Data were analysed using Microsoft Excel, descriptive and mathematical statistics (p<0.05). Completers who received radiotherapy scored significantly higher in functional status (p<0.05) and emotional function than those who did not receive radiotherapy (p<0.05). Completers with lower levels of emotional well-being were significantly more likely to have lower levels of sexual function and higher levels of gynaecological problems (p<0.05). Women affected by cervical cancer often experience somatic and psychological disturbances that reflect on quality of life associated with the disease and treatment.]

Clinical Neuroscience

Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment

ÇAKAR Emel Nafiye, ÖNAL Hasan

Niemann-Pick type C is a rare lysosomal storage disease caused by impaired intracellular cholesterol transport. The autosomal recessive disease is caused by mutations in NPC1 or NPC2 genes. Clinical-laboratory features, genotype-phenotype correlation and miglustat treatment response of our patients diagnosed with early infantile Niemann-Pick type C were evaluated. In this article, four Niemann-Pick type C patients diagnosed in the early infantile period are presented. Common features of our patients were hepatomegaly, splenomegaly, cholestasis and retardation in motor development. Patients 1 and 2 are twins, with homozygous mutation c.2776G>A p.(Ala926Thr) in NPC1 gene and severe lung involvement. Lung involvement, which is mostly associated with NPC2 gene mutation in the literature, was severe in our patients and they died early. In patients 3 and 4, there were respectively c.2972del p.(Gln991Argfs*6) mutation in NPC1 gene and c.133C>T p.(Gln45*) homozygous mutation in NPC2 gene. In these two patients, improvement in neurological findings were observed with treatment of miglustat. In our twin patients, severe lung involvement was observed. Two of our four early infantile Niemann-Pick type C patients exhibited neurological gains with miglustat treatment.

Clinical Neuroscience

Validation of the Hungarian PHQ-15. A latent variable approach

STAUDER Adrienne, WITTHÖFT Michael, KÖTELES Ferenc

Somatic symptoms without a clear-cut organic or biomedical background, also called “medically unexplained” or “somatoform” symptoms, are frequent in primary and secondary health care. They are often accompanied by depression and/or anxiety, and cause functional impairment. The Patient Health Question­naire Somatic Symptom Scale (PHQ-15) was developed to measure somatic symptom distress based on the frequency and bothersomeness of non-specific somatic symptoms. The study aimed to (1) evaluate the Hungarian version of the PHQ-15 from a psychometric point of view; (2) replicate the bifactor structure and associations with negative affect described in the literature; and (3) provide the Hungarian clinical and scientific community with reference (normal) values split by sex and age groups. PHQ-15, depression (BDI-R), and subjective well-being (WHO-5) scores obtained from a large (n = 5020) and close to representative community sample (Hun­garostudy 2006) were subjected to correlation analysis and linear structural equation modeling. The PHQ-15 showed good internal consistency (Cronbach’s α = 0.810; McDonald’s ω = 0.819) and moderate to strong correlation with the BDI-R (rs = .49, p < 0.001) and WHO-5 (rs = -.48, p < 0.001). Fit of the bifactor structure was excellent; in independent analyses, the general factor was strongly associated with depression (β = 0.656±0.017, p < 0.001) and well-being (β = -0.575±0.015, p < 0.001), whereas the symptom specific factors were only weakly or not related to these constructs. The PHQ-15 score was higher in females and showed a weak positive association with age. The Hungarian PHQ-15 is a psychometrically sound scale which is positively associated with depression and ne­gatively related to subjective well-being. The bifactor structure indicates the existence and meaningfulness of a gene­ral factor representing the affective-motivational component of somatic symptom distress. The Hungarian version of the PHQ-15 is a brief and usable tool for the pre-screening of somatization disorder (DSM-IV) or somatic symptom disorder (DSM-5). The reported reference values can be used in the future for both clinical and research purposes.

Clinical Neuroscience

[High prevalence of burnout and depression may increase the incidence of comorbidities among Hungarian nurses]

ÁDÁM Szilvia, CSERHÁTI Zoltán, MÉSZÁROS Veronika

[Background and purpose - Poor mental health among health care professionals may have a significant impact on public health. There is limited information about the prevalence and potential consequences of burnout and depression among nurses in Hungary. The objective of this study is to explore the relationship between burnout as well as depression and somatic symptoms as well as comorbidities among nurses in Hungary. Methods - Cross-sectional study with self-administered questionnaires among 1,713 nurses. Burnout and depression were assessed by the Maslach Burnout Inventory (MBIHSS) and the Shortened Beck Depression Questionnaire, respectively. Somatisation was measured by the Patient Health Questionnaire (PHQ-15). Correlates of burnout and depression were assessed by logistic and linear regression analyses. Results - The prevalence of depressive symptom and clinical depression was 35% and 13%, respectively. The prevalence of moderate and high level emotional exhaustion, depersonalisation, and decreased personal accomplishment was 44%, 36% and 74%, respectively. We identified burnout and depression as a predictor of high prevalence of subjective somatisation. Whilst burnout showed a strong association with increased prevalence of hypertension, depression predicted almost all examined diseases, in particular, cardiac and cerebrovascular diseases, as well as neoplasms. Conclusion - We found high prevalence of burnout and depression among nurses in Hungary. As depression has been shown to be associated with higher prevalence of comorbidities than burnout, its consequences may be more significant. Appropriate prevention, diagnosis, and adequate treatment of burnout and depression may decrease the prevalence of ensuing comorbidities.]