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Search for the word below: Marchiafava-Bignami disease
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Lege Artis Medicinae
OCTOBER 21, 2020
[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.]
APRIL 10, 2019
[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.]
JANUARY 30, 2020
Marchiafava-Bignami disease (MBD) is a rare alcohol-associated disorder characterized by demyelination and necrosis of the corpus callosum. We report three patients who had history of chronic alcoholism, different clinical presentation and MRI findings consistent with the diagnosis of Marchiafava-Bignami disease.
JULY 30, 2020
[The majority of patients with advanced Parkinson’s disease are treated at specialized movement disorder centers. Currently, there is no clear consensus on how to define the stages of Parkinson’s disease; the proportion of Parkinson’s patients with advanced Parkinson’s disease, the referral process, and the clinical features used to characterize advanced Parkinson’s disease are not well delineated. The primary objective of this observational study was to evaluate the proportion of Parkinson’s patients identified as advanced patients according to physician’s judgment in all participating movement disorder centers across the study. Here we evaluate the Hungarian subset of the participating patients. The study was conducted in a cross-sectional, non-interventional, multi-country, multi-center format in 18 countries. Data were collected during a single patient visit. Current Parkinson’s disease status was assessed with Unified Parkinson’s Disease Rating Scale (UPDRS) parts II, III, IV, and V (modified Hoehn and Yahr staging). Non-motor symptoms were assessed using the PD Non-motor Symptoms Scale (NMSS); quality of life was assessed with the PD 8-item Quality-of-Life Questionnaire (PDQ-8). Parkinson’s disease was classified as advanced versus non-advanced based on physician assessment and on questions developed by the Delphi method. Overall, 2627 patients with Parkinson’s disease from 126 sites were documented. In Hungary, 100 patients with Parkinson’s disease were documented in four movement disorder centers, and, according to the physician assessment, 50% of these patients had advanced Parkinson’s disease. Their mean scores showed significantly higher impairment in those with, versus without advanced Parkinson’s disease: UPDRS II (14.1 vs. 9.2), UPDRS IV Q32 (1.1 vs. 0.0) and Q39 (1.1 vs. 0.5), UPDRS V (2.8 vs. 2.0) and PDQ-8 (29.1 vs. 18.9). Physicians in Hungarian movement disorder centers assessed that half of the Parkinson’s patients had advanced disease, with worse motor and non-motor symptom severity and worse QoL than those without advanced Parkinson’s disease. Despite being classified as eligible for invasive/device-aided treatment, that treatment had not been initiated in 25% of these patients.]
NOVEMBER 30, 2019
Background - The aim of this study was to compare ischemic stroke subtypes with the effects of risk factors, the relationship between grades of kidney disease and the severity of stroke subtypes. Methods - The current study was designed retrospectively and performed with data of patients who were hospitalised due to ischemic stroke. We included 198 subjects who were diagnosed with ischemic stroke of Grade 3 and above with chronic kidney disease. Results - In our study were reported advanced age, coronary artery disease, moderate kidney disease as the most frequent risk factors for cardioembolic etiology. Hypertension, hyperlipidemia, smoking and alcohol consumption were the most frequent risk factors for large-artery disease. Female sex and anaemia were the most frequent risk factors for small-vessel disease. Dialysis and severe kidney disease were the most frequent risk factors in unknown etiologies, while male sex, diabetes mellitus, prior stroke and mild kidney disease were the most frequent risk factors for other etiologies. National Institute of Health Stroke Scale (NIHSS) scores were lower for small-vessel disease compared with other etiologies. This relation was statistically significant (p=0.002). Conclusion - In order to improve the prognosis in ischemic stroke with chronic kidney disease, the risk factors have to be recognised and the treatment options must be modified according to those risk factors.
MAY 30, 2020
[Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.]
JANUARY 30, 2020
[Recent data suggest that long-term worsening is common in relapsing-remitting multiple sclerosis patients and is largely independent of relapses or new lesion formation on brain MRI. The current definition of secunder progressive multiple sclerosis is worsening of disability independent of relapses over at least 6-month interval. Early focal inflammatory disease activity and spinal cord lesion are predictors of very-long term disease outcomes in relapse - onset multiple sclerosis. The potential of PET imaging to visualize hidden inflammation in MS brain in vivo is an important contribution for better understanding the progression of the disease. Therefore, PET imaging is a promising tool in detecting the conversion from relapsing remitting multiple sclerosis to secunder progressive form of multiple sclerosis. Furthermore, neuro-axonal damage is the pathological substrate of permanent disability in different neurological disorders including multiple sclerosis. The neurofilament proteins have promise in this context because their levels rise upon neuro-axonal damage not only in the cerebrospinal fluid but also in blood. Patients with increased serum levels of neurofilament at baseline, independent of other clinical and MRI variables, experience significantly more brain and spinal cord volume loss over 2 years and 5 years of follow-up. The kynurenine-pathway abnormalities may be associated with the swich from early-mild stage multiple sclerosis to debilitating progressive forms of the disease. Analysis of these metabolites in serum may have application as multiple sclerosis disease biomarkers. Free radical action has been suggested as a causal factor in the illness. Increased free radical production and consumption of the scavenger molecules were found during the active phase of the disease. Based on the clinical findings (EXPAND Study) and pathomechanism of the disease siponimod is approved by the US Food and Drug Administration for the treatment of relapsing remitting forms of multiple sclerosis, to include secunder progressive multiple sclerosis with active disease, relapsing-remitting multiple sclerosis and clinically isolated syndrome.]
SEPTEMBER 30, 2018
Objectives - The aim of this study was to assess the impact of early stage of idiopathic Parkinson’s disease (IPD) on caregiver burden with disease severity, duration, disability and psychiatric symptoms. Methods - 30 IPD patient (15 female, 15 male) - caregiver (18 female, 12 male) pairs participated in the study. Hoehn and Yahr (H-Y) scale was used to provide the assessment of disease progression and Unified Parkinson’s Disease Rating Scale (UPDRS) was used for assessing disability and impairment. Zarit Caregiver Burden Inventory (ZCBI) was used to ascertain the distress experienced by caregivers. Hospital Anxiety and Depression scale (HADS) was performed on both patient and caregiver groups to evaluate anxiety and depression. Depressive symptoms of both groups were also measured by Beck Depression Inventory (BDI). Patients’ psychotic symptoms were assessed using the part 1- mentation, behavior and mood section of UPDRS. Mini-Mental State Examination (MMSE) was used to evaluate dementia symptoms and Short Form-36 (SF-36) was also used to assess quality of life. Results - We found significant correlation between caregiver burden with disease severity and duration. There was a significant difference between high UPDRS scores and the caregiver’s will for placing her/his patient in a long-term institution. Patients who had depression risk according to BDI had also high UPDRS scores. Patients with off period had higher UPDRS scores and lower SF-36 subdomains of general health, physical functioning, emotional role and social functioning. Conclusion - IPD is a chronic, progressive neuro- degenerative disease and comprises substantial burden on patients, families of patients and caregivers. The disease duration and disability have a remarkable impact on caregiver burden. For the good quality of caregiving, protective therapies should be recommended for caregivers if needed.
MAY 30, 2018
Purpose - In this study the aim was to collect data to assess the mental health of carers for patients with diagnosis of idiopathic Parkinson’s disease (IPD) according to disease stage and to examine precautions to reduce the patient and disease load on carers. Method - The study included 144 patients with staging according to modified Hoehn and Yahr criteria and 144 patient relatives who provided care support for patients every day, for some or all of the day, and who were over the age of 18 years and accepted participation in the research. Our prospective and cross-sectional study performed detailed neurological examination of patients, and after completing the ‘Personal Information Form’ with the interviewer every patient, with idiopathic Parkinson’s disease (IPD) according to ‘UK Brain Bank’ diagnostic criteria, had the ‘Unified Parkinson’s Disease Rating Scale (UPDRS)’ and ‘Modified Hoehn and Yahr scale (HYS)’ applied. Carers first completed the ‘Personal Information Form’ and then had the ‘Short Symptom Inventory (SSI)’ applied. Results - As the stage of disease increased, the points for all sub-scales of the Short Symptom Inventory increased. Conclusion - With the parallel increase in disease scores and UPDRS stage scores, the points obtained by carers on the SSI sub-scales increased. This data shows that with progressing disease stage, the load on the carer increases and mental health begins to be disrupted.
MAY 30, 2018
[Purpose – Psychosocial condition and life quality of epileptic patients are greatly determined by the existence of the disease-related comorbid disorders, like depression, anxiety, and the subjective disease perception, as well as the neuropsychological consequences of the seizures. (Whitehead et al. 2015; Goldstein et al. 2005). It has been examined in patients living with epilepsy how subjective disease perception and coping strategies influence life quality, comorbid depression and the condition of anxiety. Methods – Study patients were asked to fill in a self-completion questionnaire, which examined their psychosocial condition (HADS, Beck Depression Scale), life quality (Qolie-31), coping strategies (FKV-LIS), and subjective disease perception (IPQ-R), as well as sociodemographic and disease variables. The subjects of the study: the data of epileptic patients between the age of 18 to 70 was recorded. Patients were selected from the adult outpatients of a national centre, a regional hospital and two private health care centres located in Budapest. Results – Based on the multiple regression analysis. Beck’s depression (b coefficient=-0.351, t=-4.703, p<0.001**). Depressive coping strategy (FKV Dep) (b coefficient = -0.235, t=-3.123, p=0.002**). Subjective health perception (b coefficient =0.232. t=3.643, p<0.001**). Sex (women; b coefficient =-0.162, t=-3.008, p=0.003**). IPQ consequences (b coefficient =-0.161, t=-2.572, p=0.012*). Active coping strategy (FKV Act; b coefficient =0.146, t=2.572, p=0.012*). Type of seizure (b coefficient =-0.138, t=-2.527, p=0.013*), and Sleep quality (b coefficient =-0.125, t=-1.995, p=0.049) explain some 75.6% of the variance of life quality’s total score (model3: F=33.333, p<0.001**. adjusted R2=0.733). Conclusions – Among the factors of the subjective disease perception (IPQ-R), the physical, mental and social consequences play the most important role. Similarly, the impact of negative emotional representation, as well as the erratic nature of the seizures are decisive. Emotional representation, cyclicity and disease coherence have an important role in coping with disease-related negative emotions. ]
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