Lege Artis Medicinae

[Annex to the February Issue]

FEBRUARY 01, 1992

Lege Artis Medicinae - 1992;2(03 Melléklet)

[MOK Delegates' Assembly; Health care in the capital; Still on primary care; Reconciliation of interests at the Ministry of Public Welfare]

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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

[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.]

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TISÓCZKI Evelin, BALOGH Zoltán

[On February 19, 2022 We celebrate the 205th anniversary of the birth of the first national matronage (head nurse), Zsuzsanna Kossuth. Zsuzsanna Kossuth was characterized by a high degree of empathy, self-sacrifice, exemplary behaviour, and professionalism. She laid the foundation for the processes of nursing and patient care and performed outstanding professional work throughout his life. She made no distinction between man and man, she only saw the suffering patient, in every soldier and injured. She sacrificed his life for his profession. The Hungarian Nursing Association founded the Zsuzsanna Kossuth commemorative medal in 1998, the year of the 150th anniversary of the War of Independence, which is donated every year on February 19.]

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[Relationships between COVID-19 disease, nutritional status, and dysphagia, particularly in stroke patients ]

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[The new coronavirus, SARS-CoV-2, which causes the COVID-19 disease can lead to severe acute respiratory distress syndrome (ARDS). It poses a serious challenge to the health care system, especially intensive care. Neurological patients, usually of advanced age and with a myriad of comorbidities, are at particular risk through the impact of the new coronavirus on their condition and nutritional capacity. Stroke is a leader in morbidity and mortality data, with a focus on dysphagia and its complications due to COVID-19 disease and acute cerebrovascular accident. In the acute phase of stroke, 30-50% of patients suffer from dysphagia, which still shows a prevalence of 10% six months later. Dysphagia results in decreased or insufficient fluid and nutrient uptake, supp­lemented by inactivity, leading to malnutrition and sarcopenia, which worsens overall condition, outcome, and rehabilitation efficiency. Screening and early detection of swallowing disorders is a fundamental issue in order to develop a personalized and timely-initiated nutritional therapy strategy. Nutritional therapy plays a key role in frequent intensive care due to COVID-19 disease, where it increases the chances of recovery and reduces the length of stay in the intensive care unit and mortality. This is especially true in critically ill patients requiring prolonged ventilation. In COVID-19 diagnosed patients, screening for dysphagia, bedside assessment, and instrumental examination, followed by swallowing rehabilitation, are of paramount importance. Stroke can also be a complication of the COVID-19 infection. Care for cerebrovascular patients has also adapted to the pandemic, “triazination” has become systemic, and dysphagia screening for stroke patients and nutritional therapy adapted to it have also shed new light. ]

Clinical Neuroscience

[The examination of burnout among healthcare workers]

FEJES Éva, MÁK Kornél, POHL Marietta, BANK Gyula, FEHÉR Gergely, TIBOLD Antal

[Health reforms in recent decades have been largely based on economic considerations and have led to a significant problem in the sector today, with the issue of human resources being pushed back, which is exacerbated by burnout syndrome. The aim of this questionnaire-based study was to examine the complex background of burnout among health care workers in the cities of Komló, Pécs and Kecskemét. Baseline demographic data were recorded. Burnout was assessed by the Maslach Burnout Inventory (MBI), and the intensity of dysfunctional attitudes were also studied. Depression was detected by the Beck Scale and social supports, and effort-reward dysbalance were also examined. Overall 411 employees participated in our study. Age group distribution was middle aged access, vast majority of the workers was between 36 and 55 years. Mean burnout scale was 58.6 (SD = 16.3), 63 workers had mild (14.2%), 356 had moderate (80.7%) and 22 had severe (5.1%) burnout. In a multivariate analysis the type of work (OR = 1.018), age (OR = 2.514), marital status (OR = 1.148), job type (OR = 1.246) the lack of social support (OR = 1.189) and allowance (OR = 9.719) were independently associated with burnout (p < 0.05 in all cases). There was a significant association among burnout, depression and dysfunctional attitudes. The vast majority of our social workers suffered from moderate and a small, but significant proportion suffered from severe burnout. Our work draws attention to the modifiable and unmodifiable risk factors of burnout in this population, which may help in the development of preventive strategies.]