Lege Artis Medicinae

[ Music History Column; The sudden death of the man of the world]

MALINA János

FEBRUARY 01, 2000

Lege Artis Medicinae - 2000;10(02)

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Lege Artis Medicinae

[Perinatal postasphyxial brain damage and its obstetric prevention]

PAPP Zoltán

[The author provides an overview of the definition and aethiopathogenesis of fetal hypoxia and asphyxia, including possible forms of post asphyxial damages of mature fetuses as well as the incidence and neurological consequences of cerebralpalsy. Among from the screening methods of fetal hypoxia the special importance of colour-Doppler and pulse-Doppler technique (flowmetry), cardiotocography (CTG), non-stress test, biophysical profile examinations, amnioscopy and fetal pulsoxymetry are emphasized. In the prevention of fetal asphyxia the significance of preconceptional and prenatal care, the importance of maternal diseases, pathological conditions of the fetus and the umbilical cord, as well as the influence of factors during labour and delivery are also emphasized. The practice of the authors is supported by the recommendation of British obstetricians, when making a fetal scalp pH examination in case of pathological CTG findings, or performing a prophylactic cesarean section if the pH examination is not available. Since the number of postasphyxial damage in mature newborn infants is still high in Hungary, it is concluded, that an increase is required in the rate of cesarean sections when fetal asphyxia is present. ]

Lege Artis Medicinae

[Practical questions of perinatal thyroidology]

ILYÉS István

[Characteristic features of maternal, fetal and neonatal thyroid functions are discussed. The role of maternal thyroid hormone transfer in fetal development is emphasised with the interpretation of the association between maternal and fetal thyroid functions. Thyroid disorders and dysfunctions during neonatal period are summarised and the influence of maternal thyroid disease to neonatal thyroid function is demonstrated. The role of iodine deficiency and importance of optimal iodine intake during pregnancy are also emphasised. Congenital hypothyroidism and thyroid dysfunctions of premature infants are shortly presented. The importance of prenatal care, screening for congenital hypothyroidism and thyroid function checks in premature infants are also pointed out. ]

Lege Artis Medicinae

[Evaluating endocrine laboratory findings]

KOVÁCS L. Gábor, TOLDY Erzsébet, LŐCSEI Zoltán

[The clinical value of hormonal laboratory findings is determined by many more factors than of the conventional (non-endocrine) parameters. The increased complexity is partly due to the physiological and pathophysiological properties of hormonal biomolecules as well as to the characteristic differences in the analytical methods. Correct interpretation of the endocrine results requires the consideration of potential preanalytical errors and the collection and handling of samples done more carefully. Because of the low physiological concentrations of hormones, only microanalytical methods can be used. Endocrine parameters in clinical laboratories are usually measured with immunoassay methods these days. Due to the assay characteristics of these methods (e.g. cross-reactivity of the antibodies, specificity, technology-dependent differences in sensitivity), numerical values appearing on the laboratory reports – particularly if not accompanied with additional information - may be incorrectly interpreted by the clinicians. Therefore, plausibility control should be an integral part of the post-analytical tasks of a laboratory. The authors evaluate these specialties based on their own analytical and clinical experience as well as on literature data. It is concluded that correct endocrine laboratory report should contain not only data on reference values, but also the confidentiality limits of the given endocrine test. Subnormal values, provided they are of clinical relevance, should be evaluated together with the variation coefficient and the functional sensitivity, measured specifically in this lower range. The frequently asked question, whether a difference in endocrine results is due to biological factors determined by a disease, or to analytical problems, is particularly important when using dynamic tests. ]

Lege Artis Medicinae

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Lege Artis Medicinae

[A case of juvenile haemochromatosis presenting adrenocortical insufficinecy ]

VÁRKONYI Andrea, KOLLAI Géza, ROMCSIK László, MÜZES Györgyi, TULASSAY Zsolt, TORDAI Attila, ANDRIKOVICS Hajnalka, PETER Kaltwasser Joachim, SEIDL Christian

[Juvenile haemochromatosis is a rare autosomally inherited disorder of iron metabolism causing severe iron overload in young adults. The organs mostly affected are liver, spleen, pancreas, heart and the skin similarly to the genetically also determined adult form. CASE REPORT - Contrary to most juvenile haemochromatosis cases characterised by secondary hypogonadotropic hypogonadism, this patient presented with adrenocortical insufficiency. Involvement of the heart was present on diagnosis while liver showed normal architecture without increased iron content. Genetic analysis revealed that the patient did not carry the C282Y mutation, while the H63D mutation was present in heterozygous form. With hormone supply and regular vena sections the patient is free of complaints. CONCLUSION – This case demonstrates that severe iron overload can occur early in adult life without the presence of HFE gene mutations suggesting a putative gene defect responsible for juvenile haemochromatosis. ]

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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.

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.

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.]

Lege Artis Medicinae

[Vaccines against COVID-19 pandemic]

FALUS András, SZEKANECZ Zoltán

[The rapidly spreading SARS-CoV2 respiratory virus has evoked an epidemic with serious aftermath around the world. In addition to the health effects, the global economic damage is actually unpredictable. At the same time, the pandemic has launched a series of unprecedented collaborative scientific research, including the development of vaccines. This study summarizes up-to-date information on vaccines, immune memory, and some emerging clinical effects.]

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.]