Lege Artis Medicinae

[Declaration of Presidency of Scientific Committee of Health - About the use of health databases for scientific purposes and protection of personal data helping medical-biological research]

AZ ETT Elnöksége

NOVEMBER 20, 2014

Lege Artis Medicinae - 2014;24(10-11)

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Lege Artis Medicinae

[Education and psychological support of parents in cases of postnatally detected Down syndrome]

MÁTÉ Orsolya, KÍVÉS Zsuzsanna, OLÁH András, FULLÉR Noémi, PAKAI Annamária

[OBJECTIVE - Since the 60’s several publications dealt with the phenomenon how physicians inform parents of newborns about postnatal recognition of Down’s syndrome and the support they receive right after breaking the bad news. Howe - ver, the rest of these studies concentrated on surveying parental satisfaction, while relatively few international studies deal with the other side of the communicational situation, the opinion of the informer. Our study focused on the circumstances of parental information in Hungarian institutions of obstetrics in order to evaluate the possibilities for interventions. METHODS - The Down’s team operating at the University of Pécs Faculty of Health Sciences carried out a national survey in 2005 - an interview-based questionnaire filled by physicians of institutions of obstetrics - with the help of the National Register for Congenital Diseases of the National Centre for Epidemiology and Down’s Foun dation. RESULTS - The coverage of the survey reached 74%. Rest of the surveyed institutions did not have information protocol, however, 70% of them believes it would be necessary. Only 44% of the physicians received communication training and 81% of them believe they can manage communication, 33% have felt that the mother of a newborn with Down’s syndrome would expect special help that the institutions are unable to provide. CONCLUSION - There are serious problems with the circumstances of parental informing in Hungarian institutions of obstetrics. This situation would obviously require intervention. An aimed communicational training based on international experience and exploiting the openness of physicians, as well as the establishment of information protocol could be elements of such intervention.]

Lege Artis Medicinae

[Can be human behavior predicted?]

DARUKA István

Lege Artis Medicinae

[Vortioxetin, the new antidepressant]

ÁGOSTON Gabriella

Lege Artis Medicinae

[The prevalence of musculoskeletal symptoms among ambulance personnel in a national subsample]

PÉK Emese, BÁNFAI Bálint, DEUTSCH Krisztina, JEGES Sára, BETLEHEM József

[BACKGROUND - The ambulance workers face a lot of mental stress and physical demands in their everyday life. The physical demands can be originated from caring heavy equipment and moving patients. The poor mental health can strengthen physical problems, too. In this study our aim was to detect and compare the musculoskeletal status of ambulance personnel in two regions of Hungary. SAMPLE AND METHODS - On a voluntary base a cross-sectional anonymous, standardized self-fill-in questionnaire (Nordic Musculoskeletal Questionnaire) was used with additional items. All ambulance personnel over 18 years old were involved in the study who worked in direct patient care either in the North-Hungarian or in the West-Hungarian Region of the country. RESULTS - In the regional representative sample N=810 workers answered our questions. Out of them 587 persons (72.5%) reported about some musculoskeletal problem during his lifespan. Most of them suffered from lower back pain (448 persons, 55%), back pain (318 persons, 39%), neck pain (250 persons, 30.9%). Parallel with the aging and with the time spent working for the ambulance service more and more overall discomfort can be detected (p=0.013; p=0.020). Having a second job affected the level and frequency of discomfort negatively (p=0.005). CONCLUSIONS - More than 70% of the ambulance workers experienced musculoskeletal problem during his emergency workers carrier which may worsen the quality of his work and his personal life. To handle the situation primary prevention, screening and possibilities for recreation should be forced among ambulance workers. ]

Lege Artis Medicinae

[Investigation of vitamin D supply in hospitalized patients]

FATA Emőke, ÁGOTA Katalin, HORVÁTH Dóra Eszter, VIRÁGH Éva, KÁNYÁSI Mária, KOVÁCS LÁSZLÓ, BALOGH Dóra, SCHAFFER Éva, OLÁH András, LŐCSEI Zoltán, SALAMON Antal, TOLDY Erzsébet

[Recent studies have shown that adequate vitamin D level is essential in the maintenance of normal immunological status and presumably, it has a remarkable role even in the healing of some diseases. Vitamin D deficiency is a common phenomenon worldwide. Presently, the accepted marker of vitamin-D status is the total-25-hydroxy- D-vitamin [t-25(OH)D], its level depends on the specific (DBP) and aspecific (albumin) binding proteins. As known, the level of binding proteins may change in the hospitalised patients therefore, the presently used marker could not be reliable for the vitamin status in these cases. Our aim was to measure the D-vitamin supply among hospitalized patients, taking into account the level of binding proteins. METHODS - 401 cases (average age 70±14 years) were sorted from Internal Medicine (IM; 68), Intensiv Care Unit (ICU; 58), Traumatology (203 patients suffered hip fracture) and Dialysis Center (72 patients with end stage renal disease). 127 age and sex matched persons with active lifestyle served as control group. We determined t-25(OH)D, DBP, parathormon (PTHi), albumin and the albumin corrected Ca level. The bioavailable and free vitamin fractions and the free index were calculated. RESULTS - Based on the measured t- 25(OH)D, patients have more frequently suboptimal D-vitamin levels, compared to the control group (66% vs. 97%). Severe Dvitamin deficiency occured nearly 8 times more likely (6% vs. 47%) in the hospitalized patients. Chronic renal failure and malignant diseases seem to be significantly negative influencing factors in the metabolism of the vitamin D. The level of DBP, albumin, t-25(OH)D, Bio-25(OH)D was significantly lower in the patients who died. CONCLUSION - In most cases, t-25(OH)D levels show similar results about the vitamin- D supply than other calculated 25(OH)D fraction ,except for the patients of ICU and IM . The t-25(OH)D, the Bio- 25(OH)D, the DBP and the albumin levels seem to be a good prognostic marker of the outcome.]

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Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS 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.

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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

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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.

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