Lege Artis Medicinae

[Thoughts About a Malpractice Decision]

DÓSA Ágnes

JUNE 20, 2010

Lege Artis Medicinae - 2010;20(06-07)

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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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[Second game, 37th move and Fourth game 78th move]

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[What has Go to do with making clinical decisions? One of the greatest intellectual challenges of bedside medicine is making decisions under uncertainty. Besides the psychological traps of traditionally intuitive and heuristic medical decision making, lack of information, scarce resources and characteristics of doctor-patient relationship contribute equally to this uncertainty. Formal, mathematical model based analysis of decisions used widely in developing clinical guidelines and in health technology assessment provides a good tool in theoretical terms to avoid pitfalls of intuitive decision making. Nevertheless it can be hardly used in individual situations and most physicians dislike it as well. This method, however, has its own limitations, especially while tailoring individual decisions, under inclusion of potential lack of input data used for calculations, or its large imprecision, and the low capability of the current mathematical models to represent the full complexity and variability of processes in complex systems. Nevertheless, clinical decision support systems can be helpful in the individual decision making of physicians if they are well integrated in the health information systems, and do not break down the physicians’ autonomy of making decisions. Classical decision support systems are knowledge based and rely on system of rules and problem specific algorithms. They are utilized widely from health administration to image processing. The current information revolution created the so-called artificial intelligence by machine learning methods, i.e. machines can learn indeed. This new generation of artificial intelligence is not based on particular system of rules but on neuronal networks teaching themselves by huge databases and general learning algorithms. This type of artificial intelligence outperforms humans already in certain fields like chess, Go, or aerial combat. Its development is full of challenges and threats, while it presents a technological breakthrough, which cannot be stopped and will transform our world. Its development and application has already started also in the healthcare. Health professionals must participate in this development to steer it into the right direction. Lee Sedol, 18-times Go world champion retired three years after his historical defeat from AlphaGo artificial intelligence, be­cause “Even if I become the No. 1, there is an entity that cannot be defeated”. It is our great luck that we do not need to compete or defeat it, we must ensure instead that it would be safe and trustworthy, and in collaboration with humans this entity would make healthcare more effective and efficient. ]

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[Mentalization or theory of mind as an aspect of our social cognition, is our ability to infer mental states of others (intentions, desires, thoughts, emotions) and to predict their behavior accordingly. This function significantly affects our participation and orientation in the social world and plays an important role in conversational situations, social interactions, social integ­ration and adaptation. The brain regions that serve as the basis for mind-reading function can be damaged as a consequence of traumatic brain injury, which frequently occurs among the younger population. Traumatic brain injury can cause focal or diffuse cerebral injuries, often leading to theory of mind deficit. In this topic such publications were researched that compared theory of mind ability between traumatic brain injury patients and control subjects (comparative case-control studies). We searched for the studies in the following internet based/online databases: PubMed, Web of Science, ScienceDirect, Google Scholar, APA PsycNET (PsycARTICLES) and EBSCO Host. The search was performed using the following key word combinations: theory of mind or mentalizing or social cognition AND traumatic brain injury or head/brain injury or diffuse axonal injury. Based on the results of the included and processed studies (21 pc), traumatic brain injury often leads to mentalization deficit with different severity. With this present review we aim to draw attention to the fact that the appearance and severity of mind reading dysfunction can considerably affect the outcome of the disease, the length of rehabilitation time and the prognosis of traumatic brain injury patients. Besides this, with this review, we aim to take sides in whether theory of mind ability is domain-specific or domian-general based on studies including traumatic brain injury patients.]

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[Family planning is an exceptionally important question in multiple sclerosis, as women of childbearing age are the ones most often affected. Although it is proven that pregnancy does not worsen the long-term prognosis of relapsing-remitting multiple sclerosis, many patients are still doubtful about having children. This question is further complicated by the fact that patients – and often even doctors – are not sufficiently informed about how the ever-increasing number of available disease-modifying treatments affect pregnancies. Breastfeeding is an even less clear topic. Patients usually look to their neurologists first for answers concerning these matters. It falls to the neurologist to rationally evaluate the risks and benefits of contraception, pregnancy, assisted reproduction, childbirth, breastfeeding and disease modifying treatments, to inform patients about these, and then together come to a decision about the best possible therapeutic approach, taking the patients’ individual family plans into consideration. Here we present a review of relevant literature adhering to international guidelines on the topics of conception, pregnancy and breastfeeding, with a special focus on the applicability of approved disease modifying treatments during pregnancy and breastfeeding. The goal of this article is to provide clinicians involved in the care of MS patients with up-to-date information that they can utilize in their day-to-day clinical practice. ]

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Is stroke indeed a “Monday morning disease”?

FOLYOVICH András, BÉRES-MOLNÁR K Anna, GIMESI-ORSZÁGH Judit, KATONA Lajos, BICZÓ Dávid, VÖRÖS Károly, GŐBL Gábor, AJTAY András, BERECZKI Dániel

Introduction - The therapeutic time window of acute stroke is short. Decision on the use of intravenous thrombolysis is based on well-defined criteria. Any delay in the transport to a designated stroke centre decreases the odds of therapeutic success. In Hungary, the admission rate of stroke patients peaks on Monday, the number gradually decreasing by the end of the week. This phenomenon has long been suggested to be due to the lack of emergency care approach. According to the literature, however, returning to work following a holiday is a risk factor for acute stroke. A similar phenomenon is well-known in veterinary medicine, a condition in horses referred to as ‘Monday morning disease’. In our study, we analysed the distribution of admissions due to acute stroke by the day of the week in 4 independent data sources. Patients and methods - The number of patients admitted to the Szent János Hospital, Budapest, Hungary with stroke and that of emergency ambulance transports in the whole city of Budapest due to acute stroke were analysed in the period between January 1 and March 31, 2009. The distribution of thrombolytic interventions reflecting hospitalizations for hyperacute stroke was analysed based on data of the Szent János Hospital in 2009-2012, and on national data from 2006-2012. Descriptive statistics was used to present the data. The variation between daily admission was compared by chi-square test. Results - The proportion of daily admission of stroke patients admitted to the Szent János Hospital was the highest at the beginning of the week (18% on Monday, and 21% on Tuesday) and the lowest on the weekend (9% and 9% on Saturday and Sunday, respectively). The distribution of ambulance transports in Budapest due to acute stroke tended to be similar (15% and 15% on Monday and Tuesday, whereas 13% and 12% on Saturday and Sunday, respectively) on different days of the week. No such Monday peak could be observed in a single centre regarding thrombolytic interventions: 18% and 19% of the total of 80 thrombolytic interventions in the Szent János Hospital were performed on Monday and Sunday, respectively. At the national level the higher Monday rate is obvious: during a 7-year period 16.0%, 12.7%, and 13.5% of all thrombolytic interventions in Hungary were performed on Monday, Saturday and Sunday, respectively. Conclusion - Monday preference of stroke is not exclusively caused by the lack of emergency care approach, and the phenomenon is not consistent at the individual hospital level in cases undergoing thrombolysis.