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[Background – Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neuromuscular disorder resulting in a loss of lower motoneurons. Recently, new disease-modifying treatments (two drugs for splicing modification of SMN2 and one for SMN1 gene replacement) have become available. Purpose – The new drugs change the progression of SMA with neonatal and childhood onset. Increasing amount of data are available about the effects of these drugs in adult patients with SMA. In this article, we summarize the available data of new SMA therapies in adult patients. Methods – Members of the Executive Committee of the Hungarian Clinical Neurogenetic Society surveyed the literature for palliative treatments, randomized controlled trials, and retrospective and prospective studies using disease modifying therapies in adult patients with SMA. Patients – We evaluated the outcomes of studies focused on treatments of adult patients mainly with SMA II and III. In this paper, we present our consensus statement in nine points covering palliative care, technical, medical and safety considerations, patient selection, and long-term monitoring of adult patients with SMA. This consensus statement aims to support the most efficient management of adult patients with SMA, and provides information about treatment efficacy and safety to be considered during personalized therapy. It also highlights open questions needed to be answered in future. Using this recommendation in clinical practice can result in optimization of therapy.]
[The clinical signs of SARS-CoV-2 infection has become more recognisable in recent times. In addition to common symptoms such as fever, cough, dyspnea, pneumonia and ageusia, less common complications can be identified, including many neurological manifestations. In this paper, we discuss three Covid-19 associated neurological disorders (Case 1: Covid-19 encephalitis, Case 2: Covid-19 organic headache, Case 3: SARS-CoV-2-infection and ischaemic stroke). We emphasize in our multiple case study that during the present pandemic, it is especially important for neurologists to be aware of the nervous system complications of the virus infection, thus saving unnecessary examinations and reducing the frequency of patients’ contact with health care personnel. ]
[The progress of atherosclerosis starts in childhood and lasts until the body dies. Most cardiovascular diseases and deaths can be traced back to atherosclerotic vascular changes. The process is thousands of years old, but its complex pathophysiology becomes recognized and realised only nowadays. Based on the evidence available today, atherosclerosis is such a chronic inflammatory disease of large- and medium-sized arteries, which is characterized by lipoproteins and immune cells transformed through oxidative and other changes and subendothelial accumulation of extracellular matrix. Innate and adaptive immunity provide a complex regulating system of atherogenesis, which while directing specifically the pro-atherogenic inflammatory and atheroprotective anti-inflammatory processes intensify plaque progression or even stabilize them respectively. With our growing knowledge about the pathology of atherogenesis, we can further improve the identification of cardiovascular risk conditions and apply more personalized therapeutic strategies.]
[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.]
[The progress of molecular information based on personalized precision medicine has reached a new milestone. Actually, about 6 million mutations of 600 genes may be related to the development of cancer, and on average, 3-4 of these “driver” mutations are present in each patient. Due to the progress in molecular diagnostics, we can now routinely identify the molecular profile of tumors in clinical settings. By clinical translation, there are actually available more than 125 targeted pharmaceuticals and hundreds of such therapies are under clinical trial. As a result, we have many first-line and licenced treatment options to be elected by molecular information as the optimal one for every patient. There is an increasing need for complex informatics solutions by medical software. Geneticists, molecular biologists, molecular pathologists, molecular pharmacologists are already using bioinformatics and interpretation software on their daily work. Today, online digital tools of artificial intelligence are also available for physicians for assisted treatment planning. Telemedicine, videoconferencing provide solutions for interdisciplinary virtual molecular tumor boards, which democratizes the access to precision oncology for all doctors and patients. ]
[Biological monitoring (biomonitoring) in occupational safety and health is the detection of substances (biomarkers) in biological samples of workers, compared to reference values. This article is limited to Lead (Pb) exposures, as it is one of the most important models for biomonitoring of exposure, with the blood Pb concentration as a predominant choice in occupational health. This article examines the nature of and risk factors for lead exposure among workers, the scope of the problem, the legislative and regulatory framework relevant to biomonitoring, and the role of occupational health nurses in promoting a culture of safety to prevent exposures. ]
[We often tend to forget about our environment when looking for the origin of a disease. Inhaled air, drinking water and food, substances in contact with the skin all have an effect on the human body. Metals are indispensable parts of our everyday lives, their mining, processing and use cause a continuous exposure to them. Metal exert their effects on the body in various ways. Many of them are essential for maintaining homeostasis, but excessive or harmful metal intake can lead to health damage, including tumour formation through multiple attack points. Metals substitute each other during different transport processes and in the structure of proteins, they cause oxidative stress and bind to DNA, thereby damaging it. Applying them appropriately, the proapoptotic effect of the metal compounds is brought to the fore, thus becoming a therapeutic tool for tumours. Nowadays, platinum(II) compounds are widely used as chemotherapeutic agents and there are many ongoing studies to fi nd metal compounds with an ideal therapeutic and side-effect profi le. The aims of this article were to draw the attention to the dangers of metals in relation to cancer and to highlight their diverse application possibilities in current and future cancer therapy and diagnostics.]
[The authors evaluated the pathological data, surgical reports, osteo- and angiographic rtg images of 13 subfrontal meningiomas. Their report is based on, draws on, confirms and adds some new details to the observations of 20 previously studied cases published 8 years ago. According to these findings, the frequent bone bump at the site of PM adhesion may not only sit in the middle of the planum sphenoidale but also anteriorly on the os sphenoidale spina ethmoidalis and may be in a paramedian position. The differentiation of OM and PM on the basis of clinical, osteographic and angiographic rtg. images is not only possible but also necessary. Angiograms illustrate their separation according to their feeding vessels and show that their blood supply involves the internal carotid artery - ophthalmic, recurrent branch, anterior and posterior ethmoidal, anterior meningea - and the external carotid artery - maxillary internal, media meningea. With regard to subfrontal meningiomas adherent to the sphenoid bone, it is pointed out that sphenoid meningiomas are a much larger group if not only the petit and maxillary meningiomas are included, but also those adherent to the planum, tuberculum and dorsum.]
1.
Clinical Neuroscience
[Headache registry in Szeged: Experiences regarding to migraine patients]2.
Clinical Neuroscience
[The new target population of stroke awareness campaign: Kindergarten students ]3.
Clinical Neuroscience
Is there any difference in mortality rates of atrial fibrillation detected before or after ischemic stroke?4.
Clinical Neuroscience
Factors influencing the level of stigma in Parkinson’s disease in western Turkey5.
Clinical Neuroscience
[The effects of demographic and clinical factors on the severity of poststroke aphasia]