Lege Artis Medicinae

[On the borderline]

KAPÓCS Gábor

DECEMBER 21, 2011

Lege Artis Medicinae - 2011;21(12)

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[Genomics, the science of biological complexity]

FALUS ANDRÁS

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[Christmas in Medicine ]

KISS László

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[Evaluation of the managing of bone metastasis]

RUBOVSZKY Gábor

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[A Tame Artist Among the ‘Wild”: The Life and Art of Rik Wouters]

NÉMETH István

Lege Artis Medicinae

[Occurrence of cardiometabolic risk factors among shift workers]

JERMENDY György, NÁDASI Judit, HEGYI Ilona, VASAS István, HIDVÉGI Tibor

[INTRODUCTION - Shift workers have an impaired circadian rhythm, which might have an adverse effect on their health. In order to assess cardiometabolic risk in shift workers, a cross-sectional study was performed among active workers (aged 25-66 years, with a minimal shift working experience of 5 years). METHODS - In total 481 workers (121 men, 360 women) registered by the occupational health service were enrolled in our study. Most participants worked in the light industry (58.2%) or in public service (23.9%). Following questionnaire-based data recording, anthropometric measurements and physical examination were performed and fasting venous blood sample was taken for measuring laboratory parameters. Data from shift workers (n=234, 54 men and 180 women, age: 43.9±8.1 years) were compared with those of day workers (n=247, 67 men and 180 women, age: 42.8±8.5 years). RESULTS - Compared with day workers, shift workers had bigger weight (76.6±16.1 vs 73.9±17.6 kg; p<0.05), higher BMI index (27.5±5.3 vs 26.0±4.9 kg/m2; p<0.01) and systolic blood pressure (123±19 vs 119±16 mmHg, p<0.01), and higher prevalence rate of diabetes (4.3 vs 1.2 %; p<0.05) and cardiovascular diseases (3.8 vs 0.8 %; p<0.05). In addition, the proportion of participants who performed regular physical activity was lower (20.6 vs 38.7 %; p<0.001) and that of current smokers were higher (35.0 % vs 19.5 %; p<0.001) in shift workers than in day workers. In laboratory findings, only one difference has been found: HDL-cholesterol level was lower among women (shift workers versus workers: 1.56±0.32 vs 1.68±0.36 mmol/l; p<0.01). CONCLUSION - Long-term shift work (day-night) results in a less healthy lifestyle and worse cardiometabolic risk factors compared with day work. Thus, our study highlights the importance of measures for preventing cardiovascular diseases in shift workers.]

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Clinical Neuroscience

[Clinical and genetic diagnosis of dravet syndrome: report of 20 cases]

SIEGLER Zsuzsa, NEUWIRTH Magdolna, HEGYI Márta, PARAICZ Éva, PÁLMAFY Beatrix, TEGZES Andrea, BARSI Péter, KARCAGI Veronika, CLAES Lieve, DE Jonghe Peter, HERCZEGFALVI Ágnes, FOGARASI András

[Objective and background - Severe myoclonic epilepsy in infancy (SMEI; Dravet's syndrome) is a malignant epilepsy syndrome characterized by prolonged febrile hemiconvulsions or generalized seizures starting in the first year of life. Later on myoclonic, atypical absence, and complex partial seizures appear. When one of these seizure forms is lacking the syndrome of borderline SMEI (SMEB) is defined. Psychomotor delay resulting in mental retardation is observed during the second year of life. In most patients a de novo sodium channel alfa-1 subunit (SCN1A) mutation can be identified. By reviewing the clinical, laboratory, and neuroimaging data of our SMEI patients diagnosed between 2000 and 2008, we would like to share our experiences in this rare but challenging syndrome. Our results will facilitate the earlier and better diagnosis of Hungarian children with SMEI. Patients and methods - Clinical, EEG, MRI and DNA mutation data of 20 SMEI patients treated in the Bethesda Children’s Hospital (Budapest) were reviewed. Results - The first seizure appeared at age 6.3±3.0 months. At least one of the first two seizures were complex febrile seizures in 19/20 and unilateral seizures in 12/20 children. All children except for one showed hemiconvulsions at least once; all children had seizures lasting longer than 15 minutes. Eight of twenty patients had SMEB. DNA diagnostics identified an SCN1A mutation in 17 patients (6 missense, 4 nonsense, 4 frameshift, 2 splice site, 1 deletion) while 3 children had no mutation. Conclusion - Early diagnosis of SMEI is important for the avoiding unnecessary examinations and false therapies as well as for genetic counselling. Typical symptoms of SMEI are early and prolonged febrile hemiconvulsions with neurological symptoms, mental retardation and secondary seizure types later on. The presence of an SCN1A mutation supports the diagnosis. We propose the availability of molecular diagnostics and stiripentol therapy for SMEI children in Hungary.]

Lege Artis Medicinae

[Treatment of cardiovascular risk of patients with hypertension: the role of fixed combination amlodipin-atorvastatin therapy in light of recent studies]

ALFÖLDI Sándor

[Risk factors for cardiovascular disease commonly coexist in patients with hypertension: high blood pressure is accompanied by alterations of lipid and glucose metabolism, obesity or smoking in the vast majority (70-80%) of patients. In the presence of multiple risk factors, the increment of relative cardiovascular risk caused by individual risk factors is not additive but multiplied. Since the ASCOT trial was published, statin therapy is recommended to every hypertensive patients with LDL cholesterol >2.5 mmol/L and at least intermediate cardiovascular risk (Euro SCORE>3%). Some studies show, however, that in daily clinical practice, blood pressure and lipid targets are achieved in a small percentage of patients with hypertension and dyslipidaemia. This is partly due to the fact that borderline alterations of serum cholesterol and their risk-increasing effects are often neglected during the planning of the therapy, and therapeutic adherence and persistence of patients are insufficient. According to new studies, both factors can be improved significantly if the antihypertensive and lipid-lowering treatments are initiated simultaneously, using a single pill with dual effect.]

Clinical Oncology

[Management of pancreatic cancer today]

BODOKY György, LAKATOS Gábor

[Pancreatic cancer (PC) is a major health problem with a poor prognosis. The number of patients with PC is increasing globally. There are no screening tests for early detection of PC, but even when diagnosed early, surgery is possible in only a minority of cases. Managing PC remains a big challenge. For selected patients with borderline or unresectable disease, neoadjuvant therapy offers the potential for tumor downstaging. In patients with resectable disease, adjuvant chemotherapy improves the fi ve year survival rate, whereas the use of adjuvant radiochemotherapy is still controversial. In metastatic cancer, monotherapy with gemcitabine remained the main therapeutic option during more than 10 years. Many different combinations with other drugs and new targeted therapies have been tested with gemcitabine. Only a combination of erlotinib and gemcitabine has shown a modest survival benefi t until now. Many gene alterations that directly contribute to pancreas tumorigenesis have been identifi ed or are under active investigation. Recently, the FOLFIRINOX regimen has been reported to be more active than gemcitabine in selected metastatic patients. Quality of life is an extremly important factor, when treating a patient with PC. CA 19-9 serum level can provide important information with regards to prognosis, overall survival, and response to chemotherapy as well as predict post-operative recurrence. There is a strong need for other predictive biomarkers to select patients, who might benefi t from available and new therapeutic options.]

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[Borderline and Stigmatisation An Interview with Éva Ratkóczi MD ]

NAGY Zsuzsanna

Ca&Bone

[Effect of cigarette smoking on bone density]

MÉSZÁROS SZILVIA, FERENCZ VIKTÓRIA, DELI Mónika, BORS Katalin, HORVÁTH CSABA

[INTRODUCTION - Smoking is associated with a decreased bone mass and increased risk of osteoporotic fractures.The aim of this study was to investigate the impact of current tobacco smoking to bone mineral density (BMD) in Hungarian females. PATIENTS AND METHODS - We measured BMD in 43 (25-72 yrs) smoker and 43 age- and BMI-matched non-smoker women by dual X-ray absorptiometry (Prodigy, GE Lunar) at the lumbar spine and proximal femur and by single photon absorptiometry at the radius midshaft of the non-dominant side (NK 364, Gamma). RESULTS - Osteoporosis (T-score at any measured site below - 2.5) was found to be more common among smokers compared to non smokers (63.6% vs 36.4%, χ2-test p=0.009). Among premenopausal women no difference was found in BMD between the two groups, whereas postmenopausal smoker women tended to have a lower BMD value compared to those who didn’t smoke. In postmenopausal women a decrease of borderline significance was found in lumbar BMD (0.977 vs 1.04; p=0.06). CONCLUSION - Our observation suggests that there is only a slight decrease in bone mass due to smoking, however, added to menopausal bone loss this effect can be a significant contributor to the increased fracture risk of involutional age.]