Lege Artis Medicinae

[Historica Medica; Emancipation and medicine]

JOBST Ágnes

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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Fluoxetine use is associated with improved survival of patients with COVID-19 pneumonia: A retrospective case-control study

NÉMETH Klára Zsófia, SZÛCS Anna , VITRAI József , JUHÁSZ Dóra , NÉMETH Pál János , HOLLÓ András

We aimed to investigate the association between fluoxetine use and the survival of hospitalised coronavirus disease (COVID-19) pneumonia patients. This retrospective case-control study used data extracted from the medical records of adult patients hospitalised with moderate or severe COVID-19 pneumonia at the Uzsoki Teaching Hospital of the Semmelweis University in Budapest, Hungary between 17 March and 22 April 2021. As a part of standard medical treatment, patients received anti-COVID-19 therapies as favipiravir, remdesivir, baricitinib or a combination of these drugs; and 110 of them received 20 mg fluoxetine capsules once daily as an adjuvant medication. Multivariable logistic regression was used to evaluate the association between fluoxetine use and mortality. For excluding a fluoxetine-selection bias potentially influencing our results, we compared baseline prognostic markers in the two groups treated versus not treated with fluoxetine. Out of the 269 participants, 205 (76.2%) survived and 64 (23.8%) died between days 2 and 28 after hospitalisation. Greater age (OR [95% CI] 1.08 [1.05–1.11], p<0.001), radiographic severity based on chest X-ray (OR [95% CI] 2.03 [1.27–3.25], p=0.003) and higher score of shortened National Early Warning Score (sNEWS) (OR [95% CI] 1.20 [1.01-1.43], p=0.04) were associated with higher mortality. Fluoxetine use was associated with an important (70%) decrease of mortality (OR [95% CI] 0.33 [0.16–0.68], p=0.002) compared to the non-fluoxetine group. Age, gender, LDH, CRP, and D-dimer levels, sNEWS, Chest X-ray score did not show statistical difference between the fluoxetine and non-fluoxetine groups supporting the reliability of our finding. Provisional to confirmation in randomised controlled studies, fluoxetine may be a potent treatment increasing the survival for COVID-19 pneumonia.

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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

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.

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Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

SENGUL Yildizhan, KOCAK Müge, CORAKCI Zeynep, SENGUL Serdar Hakan, USTUN Ismet

Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithy­mia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share com­mon pathology of neuroanatomical structures. We hypo­thesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship bet­ween WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.

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[The role of sleep in the relational memory processes ]

CSÁBI Eszter, ZÁMBÓ Ágnes, PROKECZ Lídia

[A growing body of evidence suggests that sleep plays an essential role in the consolidation of different memory systems, but less is known about the beneficial effect of sleep on relational memory processes and the recognition of emotional facial expressions, however, it is a fundamental cognitive skill in human everyday life. Thus, the study aims to investigate the effect of timing of learning and the role of sleep in relational memory processes. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. 84 young adults (average age: 22.36 (SD: 3.22), 21 male/63 female) participated in our study, divided into two groups: evening group and morning group indicating the time of learning. We used the face-name task to measure relational memory and facial expression recognition. There were two sessions for both groups: the immediate testing phase and the delayed retesting phase, separated by 24 hours. Our results suggest that the timing of learning and sleep plays an important role in the stabilizing process of memory representation to resist against forgetting.]

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