[Challenges of quality insurance in new generation of sequencing methods]

KÖVESDI Andrea1, KÓSA János Pál1

FEBRUARY 20, 2014

LAM KID - 2014;4(04)


  1. PentaCore Laboratórium



Further articles in this publication


[The impact of vitamin D in infertility and the role in pregnancy and in nursing period]


[Various medical associations issue different recommendations for the prevention and treatment of vitamin D deficiency. These significant differences are partly explained by the different definition of normal vitamin D level and the use of completely different mathematical models to predict the increase in vitamin D level as a response to therapy. According to the Institute of Medicine, the target vitamin D level is 20 ng/ml, whereas the Endocrine Society recommends 30 ng/m as the minimum target value. These differences show that the two Society have different views on the risk of adverse effects. Screening, however, is not recommended by either society. In this review I summarize the role of the vitamin D supplementation in the prevention of infertility. Also, I suggest the protective effect of the vitamin D during the pregnancy. In my opinion screening program against D hypovitaminosis should be performed in case of infertility and in pregnancy, because data show a protective role of vitamin D against many disease of newborn. ]


[Bone metabolism and the 10-year probability of hip fracture and a major osteoporotic fracture using the country specific FRAX algorithm in men with type 2 diabetes mellitus]


[Objectives: Was to evaluate 10-year probability of hip fracture and a major osteoporotic fracture using the FRAX algorithm, vitamin D status, bone mineral density (BMD) and biochemical markers of bone turnover in men over 50 years of age with type 2 diabetes (T2DM). We compared FRAX-predicted 10-year fracture probability, levels of 25-hydroxyvitamin D (25-OH-D), markers of bone turnover and bone mineral density at L1-L4 (LS) and femur neck (FN) in 68 men with T2DM with an age- and gender-matched group (n=68). The mean (range) age of the T2DM group was 61.4 (51-78) years. The prevalence of hypovitaminosis D (25-OH-D <75 nmol/L) was 59%. The mean (range) FRAX hip fracture and FRAX major osteoporotic fracture was 0.7 (0-2.8)% and 3.2 (0-8.5)%, respectively. BMD at the FN (0.974 gm/cm2 vs. 0.915 gm/cm2; p = 0.008) and LS (1.221 gm/cm2 vs. 1.068 gm/cm2; p < 0.001) was significantly higher in the T2DM cohort as compared to the healthy age matched males. 25-OH-vitamin D (67.7 nmol/L vs.79.8 nmol/L; p < 0.001), crosslaps (0.19 μg/L vs. 0.24 μg/L; p = 0.004) and osteocalcin (13.3 μg/L vs. 15.7 μg/L; p = 0.004) were significantly lower in the T2DM group. There was no difference in FRAX-related fracture probability between the two groups. The increased BMD in T2DM and the lack of inclusion of T2DM as a risk factor in the FRAX algorithm are probable explanations for the discordance between literature-observed and FRAX-related fracture probabilities.]


[Comparison of different schemes of vitamin D3 therapy]

SZILI Balázs, BAKOS Bence, KATÓ Karina, KIRSCHNER Gyöngyi, TOBIÁS Bálint, BALLA Bernadett, HORVÁTH Péter

[Vitamin D plays an important role in several pathways in humans. Its relation with several diseases has been previously de­scribed. Vitamin D deficiency affects al­most the full population on temperate zone at the end of the winter. Recommendations on vitamin D supplementation are inconsistent and there are only a few data about the efficacy of cholecalcipherol given not in daily manner. In the present paper, we examine the different administration mo­dalities, and their efficacy in increasing serum vitamin D levels. High doses administered rarely appear to be equally efficient and safe compared to low doses provided frequently.]


[Experiences from the dissection room. Quantitative and qualitative study among Hungarian medical students]


[BACKGROUND - The anatomy and pathology are the most outstanding field of the medical curriculum. These subjects mean the first practical experiences of dissection. The international literatures results shows that experience of dissection are important stages of becoming physician, but not always problemless. METHODS - Quantative (n=733) and qualitative (n=45) exploratory research among Hungarian medical students. We tried to present the effects and experiences of dissection pratcise using both analytical methods. Validity of the research was greatly improved by using the two methods. RESULTS - 50% of medical students reported that they were affected by dissection practice. The female students and those in clinical training (III-VI.years) reported about negative effects significantly more frequently. The results of the qualitative survey verified that dissection practices have decisive effect during the training and coping with experiences was often difficult especially for females students. CONCLUSIONS - Our research confirmed the hypothesis of dissection experiences play outstanding role in becoming physician. The successful coping isn’t the repression or ignorance of emotion, but understanding and finding effective solutions strategies for the negative emotions of experiences. Managing these experiences are a crucial factor of latter wellbeing of physicians and decisive factor of doctors-patient relationship.]


[A prospective study of holiday weight gain]

BALLA Bernadett

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Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

[What happens to vertiginous population after emission from the Emergency Department?]

MAIHOUB Stefani, MOLNÁR András, CSIKÓS András, KANIZSAI Péter, TAMÁS László, SZIRMAI Ágnes

[Background – Dizziness is one of the most frequent complaints when a patient is searching for medical care and resolution. This can be a problematic presentation in the emergency department, both from a diagnostic and a management standpoint. Purpose – The aim of our study is to clarify what happens to patients after leaving the emergency department. Methods – 879 patients were examined at the Semmel­weis University Emergency Department with vertigo and dizziness. We sent a questionnaire to these patients and we had 308 completed papers back (110 male, 198 female patients, mean age 61.8 ± 12.31 SD), which we further analyzed. Results – Based on the emergency department diagnosis we had the following results: central vestibular lesion (n = 71), dizziness or giddiness (n = 64) and BPPV (n = 51) were among the most frequent diagnosis. Clarification of the final post-examination diagnosis took several days (28.8%), and weeks (24.2%). It was also noticed that 24.02% of this population never received a proper diagnosis. Among the population only 80 patients (25.8%) got proper diagnosis of their complaints, which was supported by qualitative statistical analysis (Cohen Kappa test) result (κ = 0.560). Discussion – The correlation between our emergency department diagnosis and final diagnosis given to patients is low, a phenomenon that is also observable in other countries. Therefore, patient follow-up is an important issue, including the importance of neurotology and possibly neurological examination. Conclusion – Emergency diagnosis of vertigo is a great challenge, but despite of difficulties the targeted and quick case history and exact examination can evaluate the central or peripheral cause of the balance disorder. Therefore, to prevent declination of the quality of life the importance of further investigation is high.]

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[The connection between the socioeconomic status and stroke in Budapest]


[The well-known gap bet­ween stroke mortality of Eastern and Western Euro­pean countries may reflect the effect of socioeconomic diffe­rences. Such a gap may be present between neighborhoods of different wealth within one city. We set forth to compare age distribution, incidence, case fatality, mortality, and risk factor profile of stroke patients of the poorest (District 8) and wealthiest (District 12) districts of Budapest. We synthesize the results of our former comparative epidemiological investigations focusing on the association of socioeconomic background and features of stroke in two districts of the capital city of Hungary. The “Budapest District 8–12 project” pointed out the younger age of stroke patients of the poorer district, and established that the prevalence of smoking, alcohol-consumption, and untreated hypertension is also higher in District 8. The “Six Years in Two Districts” project involving 4779 patients with a 10-year follow-up revealed higher incidence, case fatality and mortality of stroke in the less wealthy district. The younger patients of the poorer region show higher risk-factor prevalence, die younger and their fatality grows faster during long-term follow-up. The higher prevalence of risk factors and the higher fatality of the younger age groups in the socioeconomically deprived district reflect the higher vulnerability of the population in District 8. The missing link between poverty and stroke outcome seems to be lifestyle risk-factors and lack of adherence to primary preventive efforts. Public health campaigns on stroke prevention should focus on the young generation of socioeconomi­cally deprived neighborhoods. ]

Clinical Neuroscience

Acute effect of sphenopalatine ganglion block with lidocaine in a patient with SUNCT


Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing/short-lasting unilateral neuralgiform headache with cranial autonomic features (SUNCT/SUNA) is a rare severe headache. At the time of an attack, it can hinder a patient from eating and requires acute intervention. The sphenopalatine ganglion is an extracranial parasympathetic ganglion with both sensory and autonomic fibers. Sphenopalatine ganglion block has long been used in the treatment of headache, particularly when conventional methods have failed. Here, we present a patient who was resistant to intravenous lidocaine, but responded rapidly to sphenopalatine ganglion block during an acute episode of SUNCT/SUNA.

Clinical Neuroscience

Neuroscience highlights: Main cell types underlying memory and spatial navigation

KRABOTH Zoltán, KÁLMÁN Bernadette

Interest in the hippocampal formation and its role in navigation and memory arose in the second part of the 20th century, at least in part due to the curious case of Henry G. Molaison, who underwent brain surgery for intractable epilepsy. The temporal association observed between the removal of his entorhinal cortex along with a significant part of hippocampus and the developing severe memory deficit inspired scientists to focus on these regions. The subsequent discovery of the so-called place cells in the hippocampus launched the description of many other functional cell types and neuronal networks throughout the Papez-circuit that has a key role in memory processes and spatial information coding (speed, head direction, border, grid, object-vector etc). Each of these cell types has its own unique characteristics, and together they form the so-called “Brain GPS”. The aim of this short survey is to highlight for practicing neurologists the types of cells and neuronal networks that represent the anatomical substrates and physiological correlates of pathological entities affecting the limbic system, especially in the temporal lobe. For that purpose, we survey early discoveries along with the most relevant neuroscience observations from the recent literature. By this brief survey, we highlight main cell types in the hippocampal formation, and describe their roles in spatial navigation and memory processes. In recent decades, an array of new and functionally unique neuron types has been recognized in the hippocampal formation, but likely more remain to be discovered. For a better understanding of the heterogeneous presentations of neurological disorders affecting this anatomical region, insights into the constantly evolving neuroscience behind may be helpful. The public health consequences of diseases that affect memory and spatial navigation are high, and grow as the population ages, prompting scientist to focus on further exploring this brain region.