Lege Artis Medicinae

[Personal genom - brave new world?]

ÁRVAI Kristóf1, KÓSA János Pál1

JUNE 15, 2012

Lege Artis Medicinae - 2012;22(05)

AFFILIATIONS

  1. Semmelweis Egyetem, I. Sz. Belgyógyászati Klinika, PentaCore Laboratórium

COMMENTS

0 comments

Further articles in this publication

Lege Artis Medicinae

[Quo vadis? Whose life is it anyway? EBM based health politics and health based politics]

KAPÓCS Gábor

Lege Artis Medicinae

[Liver diseases and diabetes mellitus]

WINKLER Gábor

[The liver plays a pivotal role in metabolism. Thus, it is hardly surprising that its acute and chronic diseases may be accompanied by multiple disturbances of the carbohydrate metabolism, and the development of diabetes mellitus - primarily of type 2 diabetes mellitus - may result in structural changes in the liver. This article overviews the main pathogenetic mechanisms of this bidirectional relationship, discusses special considerations of choosing the therapy and highlights special difficulties of the assessment of a diabetic metabolism.]

Lege Artis Medicinae

[Borderline and Stigmatisation An Interview with Éva Ratkóczi MD ]

NAGY Zsuzsanna

Lege Artis Medicinae

[The Ear Disease and Death of Heinrich Schliemann ]

GERLINGER Imre

Lege Artis Medicinae

[The role of vitamin D in gastrointestinal diseases]

ZÖLD Éva, BODOLAY Edit, ZEHER Zargit, BARTA Zsolt

[The amount of the fat-soluble vitamin D can be reduced by a number of chronic diseases or even obesity. On the other hand, vitamin D itself can also influence the development or course of these disorders. Some gastrointestinal diseases are known to cause vitamin D deficiency, but some observations and studies have also proved that certain gastrointestinal diseases occur more frequently in case of vitamin D deficiency. Moreover, in case of some intestinal tumours even “vitamin D sensitivity” can occur. Our aim is to introduce the relationship between vitamin D and gastrointestinal diseases, and to highlight the importance of vitamin D replacement in gastrointestinal diseases accompanied by vitamin D deficiency or vitamin D sensitivity.]

All articles in the issue

Related contents

Clinical Neuroscience

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.

Lege Artis Medicinae

[Focus on Lege Artis Medicinae (LAM)]

VASAS Lívia, GEGES József

[Three decades ago, LAM was launched with the goal of providing scientific information about medicine and its frontiers. From the very beginning, LAM has also concerned a special subject area while connecting medicine with the world of art. In the palette of medical articles, it remained a special feature to this day. The analysis of the history of LAM to date was performed using internationally accepted publication guidelines and scientific databases as a pledge of objectivity. We examined the practice of LAM if it meets the main criteria, the professional expectations of our days, when publishing contents of the traditional printed edition and its electronic version. We explored the visibility of articles in the largest bibliographic and scientific metric databases, and reviewed the LAM's place among the Hun­ga­rian professional journals. Our results show that in recent years LAM has gained international reputation des­pite publishing in Hungarian spoken by a few people. This is due to articles with foreign co-authors as well as references to LAM in articles written exclusively by foreign researchers. The journal is of course full readable in the Hungarian bibliographic databases, and its popularity is among the leading ones. The great virtue of the journal is the wide spectrum of the authors' affiliation, with which they cover almost completely the Hungarian health care institutional sys­tem. The special feature of its columns is enhanced by the publication of writings on art, which may increase Hungarian and foreign interest like that of medical articles.]

Clinical Neuroscience

[Cases of inborn errors of metabolism diagnosed in children with autism ]

ÇAKAR Emel Nafiye, YILMAZBAŞ Pınar

[Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.]

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.

Lege Artis Medicinae

[A short chronicle of three decades ]

KAPRONCZAY Katalin

[Hungarian professional periodicals started quite late in European context. Their publish­ing, editing and editorial philosophy were equally influenced by specific historical and political situations. Certain breaking points of history resulted in termina­tion of professional journals (War of In­de­pendence 1848-1849, First and Se­cond World Wars), however there were pe­riods, which instigated the progress of sciences and founding of new scientific journals. Both trends were apparent in years after the fall of former Hungarian regime in 1990. The structure of book and journal publishing has changed substantially, some publishers fell “victim” others started successfully as well. The latters include the then-established publishing house Literatura Medica and its own scientific journal, Lege Artis Me­di­cinae (according to its subtitle: New Hun­garian Medical Herald) issued first in 1990. Its appearance enhanced significantly the medical press market. Its scientific publications compete with articles of the well-established domestic medical journals however its philosophy set brand-new trends on the market. Concerning the medical community, it takes on its problems and provides a forum for them. These problems are emerging questions in health care, economy and prevention, in close interrelation with system of public health institutions, infrastructure and situation of those providing individual health services. In all of them, Lege Artis Medicinae follows consequently the ideas of traditional social medicine.]