Lege Artis Medicinae

[Female aspects in the history of medicine]

SOLTI Hanna

JULY 18, 2022

Lege Artis Medicinae - 2022;32(06-07)

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Lege Artis Medicinae

[Attitudes towards end-of-life decisions among neonatology intensive care workers – Legal aspects behind decisions ]

FEITH Helga Judit, SALLAI Eszter Zsófia, SOÓSNÉ Kiss Zsuzsanna, GÉZSI András, GRADVOHL Edina, KOVÁCS Aranka, BERBIK István, SZABÓ Miklós

[Minors’ end-of-life dilemmas are among the most difficult decisions. Premature infants’ chance of survival has greatly improved thanks to the development of technology. Under-age children’s quality of life, as an aspect, does not appear in the effective Hungarian legislation. The aim of our study is to survey the change in NICU (neonatology intensive care unit) workers’ opinions/attitudes after a 20-year-period about restrictions in severely impaired new-borns’ intensive cares. Quantitative, complete sociological surveys in the Hungarian NICUs using self-administered, anonymous questionnaires (n = 728). Cross-Tabulation analysis and Pearson chi-squared test have been used for the data evaluation. In both studies, the majority of participants agreed that if the condition is fatal, it may be appropriate to limit the intensive care. Acceptance of treatment withdrawal has increased, but active euthanasia is still not accepted. Most healthcare workers are unsatisfied with the current legal order and there is a need for change, especially in cases of fatal and poor prognosis. Despite the fact that the effective Hungarian health care regulation does not allow withdrawal of treatment even in severe conditions, a significant number of those working at Hungarian NICUs would consider it as acceptable in some cases, moreover the share of acceptance has in­creased in the last two decades. Comparing the results with the current regulations, it can be suggested that it is necessary to increase the sensitivity of the legislators and to change the related legislation.]

Lege Artis Medicinae

[Herbs and natural substances used in Covid-19 caused by Wuhan and Delta variants of SARS-Cov-2 in the light of clinical trials]

CSUPOR Dezsô

[The use of medicinal plants in the preven­tion and treatment of Covid-19 started soon after the pandemic began. In some countries (e.g. China), the use of medicinal plants for this purpose was an officially declared goal. The plants used in therapy were selected on the basis of in silico studies, preclinical data or extrapolation of folk medicinal experience. In other parts of the world, the majority of medicinal plants are used by Covid patients outside of formal medicine, typically as food supplements. In this article, we review randomised controlled clinical trials of herbal preparations, indtoducing the potential place of herbal preparations in the therapy of Covid-19. A total of 17 trials were identified, most of which studied the effect on disease symptoms. Although most of the products tested were shown to be effective in at least one endpoint, the quality of the studies (mostly open-label, using non-standardised formulations) does not allow positive conclusions on efficacy. ]

Lege Artis Medicinae

[Dual incretin therapy – a novel approach in the antidiabetic therapy of type 2 diabetes ]

WINKLER Gábor, KIS János Tibor

[The introduction of incretin-based blood glucose lowering drugs, the dipeptidyl peptidase inhibitors, and glucagon-like peptide-1 receptor agonists (GLP-1 RAs) have opened up new perspectives in the antidiabetic treatment of type 2 diabetes. Beneficial properties of these drugs have directed the attention to study further enterohormones with potentially favourable effects on carbohydrate metabolism. Since the point of attack of these hormones is partly different partly identical, based on theoretical considerations, activating simultaneously their receptors in terms of glycemic control may result in synergistic and additive effects. This study reviews the concept of lowering the blood sugar level in type 2 diabetes based on multiagonistic receptor stimulation further the potential benefits of co-stimulating GLP-1 and glucose-dependent insulinotropic polypeptide (GIP) receptors. It also briefly discusses the first data on tirzepatide as the first representative of dual receptor agonists accepted for clinical use by the FDA.]

Lege Artis Medicinae

[Modern approach and advanced treatment of obesity ]

SIMONYI Gábor, BEDROS J. Róbert, WITTMANN István

[Obesity is a recurrent, progressive chronic disease associated with body fat accumula­tion the body. Due to the nature of the dis­ease, its treatment and care is a life-long program. Elements of therapy: lifestyle modification (diet and exercise), psychological treatment, medication and if necessary, surgery. The Hungarian Society of Obesity and Exercise, recommends a low-carbohydrate and high-protein diet in the first half year of the weight loss program. During physical activity, dynamic, aerobic forms of movement (e.g. walking, jogging, swimming, cycling, etc.) are preferred. The options of drug treatment in Hungary are orlistat, naltrexone/bupropion fixed dose combination and liraglutide sc (3.0 mg) and bariatric surgery, which all can contribute successfully to the weight loss program.]

Lege Artis Medicinae

[Clinical protocol of the early childhood eating and sleep disorders outpatient clinic ]

SCHEURING Noémi, GULÁCSI Ágnes, ÁGOSTON Olga, SIBA Mónika, STADLER Judit, BALÁZS Krisztina, EGYED Katalin, KECSKEMÉTI Judit, HOLLÓSI Lilla Eszter, DANIS Ildikó, GERVAI Judit, SZABÓ László

[In a three-part article series, we present (1) the clinical protocol used by the Early Childhood Eating and Sleep Disorders Outpatient Clinic of the Heim Pál National Pediatric Institute; (2) the follow-up monitoring methodology of treatment efficacy; and (3) the first results obtained by this moni­toring program in a three-part ar­ticle. The Clinic with in-patient background was the first in the Hungarian health care system to provide organized care by interdisciplinary methods for families of infants and young children struggling with early child­hood emotional and behavioural regulation problems. The present first article concerns the clinical protocol of our facility based on the international literature and our own prior experiences. In the literature review, we emphasize especially the early childhood range of care for eating and sleep disorders. Thus, we justify the rationale of structure and activities of our Outpatient Clinic launched in 2017 by a brief summary of the international literature. Our aim is to inspire further health care providers to set up similar interdisciplinary services by a detailed description of our facility. ]

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Clinical Neuroscience

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

[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.]

Lege Artis Medicinae

[LAM 30: 1990–2020. Facing the mirror: Three decades of LAM, the Hungarian medicine and health care system]

KAPÓCS Gábor

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.]

Clinical Neuroscience

Atypical presentation of late-onset Sandhoff disease: a case report

SALAMON András , SZPISJAK László , ZÁDORI Dénes, LÉNÁRT István, MARÓTI Zoltán, KALMÁR Tibor , BRIERLEY M. H. Charlotte, DEEGAN B. Patrick , KLIVÉNYI Péter

Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms. The severity and the age of onset of the disease (infantile or classic; juvenile; adult) depends on the residual activity of the enzyme. The late-onset form is characterized by diverse symptomatology, comprising motor neuron disease, ataxia, tremor, dystonia, psychiatric symptoms and neuropathy. A 36-year-old female patient has been presenting progressive, symmetrical lower limb weakness for 9 years. Detailed neurological examination revealed mild symmetrical weakness in the hip flexors without the involvement of other muscle groups. The patellar reflex was decreased on both sides. Laboratory tests showed no relevant alteration and routine electroencephalography and brain MRI were normal. Nerve conduction studies and electromyography revealed alterations corresponding to sensory neuropathy. Muscle biopsy demonstrated signs of mild neurogenic lesion. Her younger brother (32-year-old) was observed with similar symptoms. Detailed genetic study detected a known pathogenic missense mutation and a 15,088 base pair long known pathogenic deletion in the HEXB gene (NM_000521.4:c.1417G>A; NM_000521:c.-376-5836_669+1473del; double heterozygous state). Segregation analysis and hexosaminidase enzyme assay of the family further confirmed the diagnosis of late-onset Sandhoff disease. The purpose of this case report is to draw attention to the significance of late-onset Sandhoff disease amongst disorders presenting with proximal predominant symmetric lower limb muscle weakness in adulthood.