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Clinical Neuroscience

SEPTEMBER 30, 2020

A rare entity of acquired idiopathic generalised anhidrosis which has been successfully treated with pulse steroid therapy: Does the histopathology predict the treatment response?

ÖKTEM Özdemir Ece, ÇANKAYA Şeyda, UYKUR Burak Abdullah, ERDEN Simsek Nazan, YULUG Burak

Acquired idiopathic generalised anhidrosis is an uncommon sweating disorder characterized by loss of sweating in the absence of any neurologic, metabolic or sweat gland abnormalities. Although some possible immunological and structural mechanisms have been proposed for this rare entity, the definitive pathophysiology is still un­clear. Despite some successfully treated cases with systemic corticosteroid application, the dose and route of steroid application are controversial. Here, we present a 41-year-old man with lack of genera­lised sweating who has been successfully treated with high dose pulse intravenous prednisolone. We have discussed his clinical and histopathological findings as well as the treatment options in view of the current literature.

Lege Artis Medicinae

JULY 01, 2020

[Treatment of hypercholesterolemia in the elderly]

BARNA István

[The percentage of population aged ≥65 years is mounting worldwide, among them those over 75 years is also growing. Athe­ro­scle­rosis is one of the most important and common disorder in the elderly responsible primarily for premature death and cognitive declining and impaired quality of life. Adequate lipid lowering therapy can decrease the risk of cardiovascular events – the main cause behind mortality – can extend life expectancy and improve the quality of life of patients. Effect of dietary treatment on cardiovascular risk reduction is as beneficial as in the younger populations. Regular physical activity reduces the risk of cardiovascular and overall mortality by 26% in males and 20% in females aged ≥65 years. If the medical history is negative for vascu­lar disorders, statin administration as a primary prevention is indicated for patients 65>years. In the population aged 75≥years individual benefit/risk assessment is needed before statin administration. Larger risk reduction can be achieved between 65-75 years than in subjects over 75 years. Concerning secondary prevention, statin treatment is of pre-eminent significance, and its administration is evidence-based in the elderly. For achieving the lipid goals, combined therapy with statin and ezetimibe is recommended in the primary as well as secondary cardiovascular prevention. ]

Lege Artis Medicinae

JULY 01, 2020

[Sarcopenia – muscle loss – pathomechanism, clinical presentation and metabolic comorbidities]

VERECKEI Edit, HODINKA László

[Sarcopenia, or the age-related involution of muscle strength and muscle mass, is a serious public health concern, due to the growing number of elderly population caused by nowadays demographic changes i.e. prolonged life expectancy. By ageing, the muscle tissue is shrinking gradually, leading to the loss of muscle strength and masses. This condition is called sarcopenia. Sar­co­penia is the simultaneous decrease of muscle mass, muscle strength and functional independence. In parallel the physical performance deteriorates (weakness, slowness and poor physical balancing). Fatigue, el­derly behaviour and weight loss are the consequences of these accumulating deficits, which associate with cognitive decline and result in increasing social isolation. The primary form of sarcopenia is the decrease of the energy production of muscle cells and then the death of muscle cells. Se­con­dary, endocrine dysfunctions, diseases of the nervous system, decreased physical activity, malnutrition or malabsorption, chronic infection accelerate the process and aggravate the patient’s condition. Complex genetic, biochemical and endocrine mechanisms take part in the development of sarcopenia. This involution is due to the impaired balance of restoring and depleting processes of muscles. A questionnaire and algorithm have been developed to recognize, screen and diagnose the risks of sarcopenic condition; these separate the sarcopenic and non-sarcopenic patients with specific cut-off values. Sar­co­penia can be diagnosed based on walking speed, decreased handgrip strength and measured or calculated muscle mass in persons over 65. Sarcopenia can be considered as a phenomenon of “physiological” aging, however, it becomes a disease when diagnostic cut-offs are exceeded and the patient experiences functional disability and declining quality of life. Prevention and treatment of sarcopenia and reducing the risk of falling are based on regular active resistance and coordination exercises. Options for pharmaceutical treatments are limited since despite of identified molecular targets there are no convincingly effective innovative therapy on the horizon. Nevertheless, there are some weak evidence for efficacy of the application of amino acids stimulating muscle cell differentiation, such as leucine or the analogue of beta-hydoxy-methylbutyrate beside exercise therapy.]

Lege Artis Medicinae

JULY 01, 2020

[Persisting Hashimoto’s thyroiditis converting to Graves’ disease]

TÓTH Géza

[Graves’disease and Hashimoto’s thyroiditis are the two most important types of autoimmune thyroid dis­eases. Autoimmune hyperthyroidism commonly leads later on to hypothyroidism. The conversion from persisting Hashimoto-thyroiditis to hyperthyroidism is rare in the literature. The author presents the cases of two patients, whose Hashimoto’s thyroiditis treated with thyroxin for years, changed into Graves’ hyperthyroidism sponta­neously. CASE REPORT – The patients had been diagnosed with autoimmune hypothyroidism since several years. The clinical symp­­toms, the low peripheral hormone le­vels, the high level of antithyroid antibo­dies and the ultrasound imaging confirmed the hypertrophic form of Hashimoto’s thy­roiditis. After several years of high dose le­vothyroxin treatment, clinical symptoms of hyperthyroidism have appeared. After omit­ting the substitution, the thyroid hormone levelled off at high values and the level of anti-TSH receptor antibodies raised too. The diffuse, obviously increased blood flow of the thyroid glands, and in one of the patients the thyroid scan, confirmed the Graves’ disease. During the thyreostatic treatment, the symptoms of the patients disappeared, they became euthyreoid and the antibody levels decreased as well. The Graves’ disease and the Hashimoto’s thyroiditis have many common features. These immunological, ge­netic and other common features enable the mutual transition of these two diseases.]

Hypertension and nephrology

JUNE 24, 2020

[Treatment of hypertension in patients with chronic renal failure]

SZLOVÁK Edina, SZILVESZTER Dolgos

[The prevalence of chronic renal failure and hypertension is steadily increasing worldwide. The risk of possible cardiovascular death in patient with advanced renal failure is greater than the risk of progression to end-stage renal failure. Therefore treating and achieving target blood pressure is important in order to slow renal function decline in parallel with cardiovascular risk reduction. However, guidelines do not specify a single blood pressure target to be achieved in patients with renal failure, but suggest evidence based, reno- and cardioprotective therapy. This paper summarizes the clinical practice of treating hypertension (drug and nondrug treatment, therapeutic algorithm, target value, effectiveness of therapy) in patients with chronic renal failure.]

Hypertension and nephrology

JUNE 24, 2020

[Hypertension and Covid-19 – Part I. Significance of age, underlying diseases, and ACEI/ARB therapy in hypertension and co-morbidities during SARS-Cov2 infection]

KÉKES Ede, SZÉKÁCS Béla, NAGY Judit, KOVÁCS Tibor

[The appearance of the Covid-19 epidemic in different continents shows specific clinical features. Confirmed infected patients are detectable from approximately 30 years, with a maximum between 40 and 70 years of age. At the same time, however, a significant proportion of those who die from the infection come from patients over 65 years. The prevalence and mortality rates of the hypertensive population show a very similar formation. Based on the data collected, it is not surprising that hypertension as the underlying disease in the Covid- 19 epidemic is the first in all analysis. A more precise analysis clarified that it is not hypertension per se, but co-morbidities and complications of hypertension that play a primary role behind large-scale mortality in old age, such as diabetes, coronary heart disease, stroke, heart failure, and chronic kidney disease. Data from China, North America, and Italy suggest that hypertension and diabetes – and in North America, pathological obesity – in infected patients actually only reflect the prevalence of these diseases in a given population. The presence of comorbidities (coronary artery disease, stroke, heart failure, arrhythmia, chronic kidney disease) – based on multivariate logistic regression analysis – presents a more risk for severe clinical course and mortality. Some recent analyses have provided strong evidence that ACEI/ARB treatment does not pose a higher risk for the course or outcome of infection. Their administration is constantly needed in hypertension and comorbidities due to their organ protective and slowing the progression of diseases.]

Clinical Neuroscience

JULY 30, 2020

[Advanced Parkinson’s disease characteristics in clinical practice: Results from the OBSERVE-PD study and sub-analysis of the Hungarian data]

TAKÁTS Annamária, ASCHERMANN Zsuzsanna, VÉCSEI László, KLIVÉNYI Péter, DÉZSI Lívia, ZÁDORI Dénes, VALIKOVICS Attila, VARANNAI Lajos, ONUK Koray, KINCZEL Beatrix, KOVÁCS Norbert

[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.]

Hypertension and nephrology

JUNE 22, 2020

[About the care of patients with hyperuricaemia and gout]

[This consensus document is intended to provide guidance for the effective and efficient treatment of asymptomatic individuals with high uric acid levels and gout patients.]

Clinical Neuroscience

MAY 30, 2020

[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]

MOLNÁR Mária Judit, BORSOS Beáta, VÁRDI Visy Katalin, GROSZ Zoltán, SEBÕK Ágnes, DÉZSI Lívia, ALMÁSSY Zsuzsanna, KERÉNYI Levente, JOBBÁGY Zita, JÁVOR László, BIDLÓ Judit

[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.]