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Clinical Neuroscience

JANUARY 30, 2021

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

JANUARY 30, 2021

Evaluation of the effectiveness of transforaminal epidural steroid injection in far lateral lumbar disc herniations

EVRAN Sevket, KATAR Salim

Far lateral lumbar disc herniations (FLDH) consist approximately 0.7-12% of all lumbar disc herniations. Compared to the more common central and paramedian lumbar disc herniations, they cause more severe and persistent radicular pain due to direct compression of the nerve root and dorsal root ganglion. In patients who do not respond to conservative treatments such as medical treatment and physical therapy, and have not developed neurological deficits, it is difficult to decide on surgical treatment because of the nerve root damage and spinal instability risk due to disruption of facet joint integrity. In this study, we aimed to evaluate the effect of transforaminal epidural steroid injection (TFESI) on the improvement of both pain control and functional capacity in patients with FLDH. A total of 37 patients who had radicular pain caused by far lateral disc herniation which is visible in their lumbar magnetic resonance imaging (MRI) scan, had no neurological deficit and did not respond to conservative treatment, were included the study. TFESI was applied to patients by preganglionic approach. Pre-treatment Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI) scores of the patients were compared with the 3rd week, 3rd month and 6th month scores after the procedure. The mean initial VAS score was 8.63 ± 0.55, while it was 3.84 ± 1.66, 5.09 ± 0.85, 4.56 ± 1.66 at the 3rd week, 3rd month and 6th month controls, respectively. This decrease in the VAS score was found statistically significant (p = 0.001). ODI score with baseline mean value of 52.38 ± 6.84 was found to be 18.56 ± 4.95 at the 3rd week, 37.41 ± 14.1 at the 3rd month and 34.88 ± 14.33 at the 6th month. This downtrend of pa­tient’s ODI scores was found statistically significant (p = 0.001). This study has demonstrated that TFESI is an effective method for gaining increased functional capacity and pain control in the treatment of patients who are not suitable for surgical treatment with radicular complaints due to far lateral lumbar disc hernia.

Journal of Nursing Theory and Practice

FEBRUARY 28, 2020

[Physical Dimensions of Quality of Life on Dialysis and Renal Transplant Patients]

BABARCI Ágnes, BOROS Edit, BALOGH Zoltán

[End stage renal failure is a disease with a serious impact on the everyday life of patients. The aim of this study is to measure and compare the quality of life of patients on hemodialysis and following renal transplant in Szeged, based primarily on physical dimensions and to compare the results with similar national and international data. Throughout the research the authors used the Kidney Disease Qualitiy of Life Questionnary- Short Form-36, the Illness Intrusiveness Rating Scale, and their own questionnary. They involved 111 patients into their study from September 2018 to May 2019. The results show that among the dimensions regarding physical health the pain subscale in the renal transplant cohort reached the highest scores: 76±26 (average±SD) vs. 55±33 in the dialysis cohort. (p<0,001). The result of physical role functioning subscale was the lowest, reaching 69±25 points vs. 50±30 in the dialysis cohort. (p<0001). Analyzing the correlation of quality of life and illness intrusiveness, they found that the higher the quality of life result, the lower is the illness intrusiveness result (r=-0,478). Due to the results of the present study, it can be stated, that the quality of life in the dialysis cohort is lower in Szeged. These results may contribute to a holistic view of care of our patients. ]

Journal of Nursing Theory and Practice

FEBRUARY 28, 2020

[The Future Nurse –Work Value Preferences of the Generation Z]

KISS Ibolya, PAPP Katalin

[To explore the work value preferences of nurses born after 1995 and those of different generations. The Super Job Value Preference Questionnaire was completed by nurses of different qualifications (N=106). In the analysis, we ranked the average of each value range to determine the rank, and also the standard deviation value. Preferred values for nurses of each generation: hierarchy, physical environment, ma­teriality for Baby Boomers; for X generation: altruism, hierarchy, physical environment; for the Y generation: altruism, hierarchy, security; and for Z generation: hierarchy, altruism, social relationships. We found differences in preferred work values between generations, and also found the similarities and differences among the generations. ]

Lege Artis Medicinae

NOVEMBER 30, 2020

[Economic features of rewarding physicians – changing for fair incomes in Hungary ]

BALÁZS Péter

[Since ages, rewarding physicians was a crucial problem. Among true professionals (priests, legal experts, physicians and teachers) only medical doctors are necessarily working in physical terms, which generates permanent uncertainty about their remuneration. Old Age manual services (surgery, obstetrics) were paid by artisans’ standards while patients of faith-healing (by priest-doctors) presented religious offers according to their capacities. Hippocrates’ business ethics transformed this pattern as price elasticity for profane providers. During the Medieval Ages, governments issued also for physicians fee schedules or in some countries like Hungary they agreed free on remuneration with their patients. Thus, Hungary’s physicians experienced 1891 the implementation of the Bismarck type social health insurance as a real shock-wave generated by the depressed fee proposals. After the first hit, during the following 100 years Hungary committed all possible financial failures down to the fall of Communism in 1989. After the age (1949–1989) of socialism in the health care, general practitioners returned to the self-employed business however under heavy custody of a single payer public fi­nan­cing. Specialist in out and in-patient care (if they used this opportunity) were “li­cenced” for earning money on the quasi pri­vate market of the under-the-table informal business. Actually, only the private dentistry preserved its legal free market share and by the cross-border “dental-tourism” Hungary joined also the competitive international dental market. All other specialists demonstrate income discontent by requiring higher wages, working abroad or fuelling debates on accepting informal payments of “thankful” patients. Contrasted to dentistry, there are actually no economic standards to ponder physicians’ income expectations and compare them with purchasing power of public and private financing. This study shows first the historic evidence of the relevant golden standard and its continuity un-der the present circumstances however supressed for political reasons. It would be able to settle debates about the public employees’ wages of doctors caught out of the thin air. ]

Clinical Oncology

AUGUST 30, 2019

[Electrochemotherapy]

KIS Erika Gabriella

[Tumors with standard electrochemotherapy (ECT) has raised over the past decade from skin cancers to locally advanced or metastatic tumors. The procedure became a reliable alternative of other local tumor ablation methods, because of its patient tolerability, effi cacy across histotypes, and repeatability. ECT is based on the physical phenomenon of reversible electroporation; short electric pulses are applied to tumor nodules to achieve transient cell membrane permeabilization to otherwire poorly permeant chemotherapy drugs, which consequently increases cytotoxicity. At present recognized indications include superfi cial metastases of malignant melanoma, breast cancer, head and neck skin tumors, Kaposi sarcoma, primary and recurrent nonmelanoma skin cancers, and in well-selected patients mucosal oropharyngeal cancers. Emerging applications include skin metastases from visceral or hematological malignancies, vulvar cancer, certain benign skin lesions, and the combination of ECT with systemic immunotherapy. Thanks to the technical developments, the new ECT indications are deep-seated tumors, including bone metastases, liver malignancies, pancreatic and prostate cancers with the use of long needle variable geometry electrodes. Herein we review the present status of ECT from the basic principles to emerging applications, and report the effi cacy of standard ECT across histotypes.]

Hypertension and nephrology

SEPTEMBER 30, 2020

[Post-career development of cardiometabolic changes and hypertension in competitive athletes]

LELBACH Ádám, KÁNTOR Márk, KOLLER Ákos

[Regular physical activity is essential in delaying the aging processes (e.g. arterial remodelling – stiffening, metabolism, bodyweight), the beneficial effects of competitive sports – especially strength sports – according to the recent data of the literature are questionable. The beneficial effects of physical activity on the cardiovascular (CV) system are well known, however less is known regarding the delayed impacts of high intensity competitive sports on the CV system, especially after the sport career is over. This review summarizes the effects of active competitive sport and the post-career period on the cardiometabolic system with special attention to the systemic blood pressure and the development of metabolic syndrome. After sport career, the welldeveloped high performance cardiovascular- and metabolic system suddenly is much less used, but still supported by sport-level diet. It is well known that hypertension is a significant pathogenic factor in the development of cardiovascular diseases, characterized – among others – by reduced elasticity of large- and medium- sized vessels thereby importantly contributing to the development of systolic hypertension. Inflammation and thrombus formation both play an important role in the development of vascular injury and atherosclerosis. The increased tone of microvessels can impair the blood supply of certain organs, including the coronary circulation. It has been ample shown, that regular non-competitive, aerobic exercise activities are important factors in preventing hypertension. Such pathological changes become more evident after the development of post-career obesity, as well as the development of hypertension due to the activation of the renin-angiotensin system through sodium retention and other metabolic changes (increased glucose tolerance, insulin resistance, type II diabetes mellitus). It has been ample shown, that regular non-competitive, dynamic aerobic exercise activities are important factors in preventing hypertension. The frequency, intensity, type, and time (FITT) principle of exercise prescription is the first and common therapeutic approach, which represents the translation of cardiovascular basic science research results into hypertension treatment, thus can provide a personalized physical activity program/therapy according to medical needs not just for the post-career sportspersons, but the wide range of patients.]

Lege Artis Medicinae

JULY 01, 2020

[Suicide endangering elderly people: risk factors, prevention and care]

BARACZKA Krisztina

[According to the data of the Hungarian Central Statistical Office (HCSO), the Hungarian citizens aged over 65 represented in 2001 11.8%, 2011 13.2% and 2019 19.3% of the total population. Providing services for aging (>60 years), aged (>75 years), very old (>90 years) and Matusalem (>100 years) individuals burdens heavily the health system and the socio-economic sector. Maintaining these people’s physical and mental health and self-perceived well-being is a pre-eminently important task. According to the World Health Organization (WHO) statistics based on data providing countries, the number of suicides committed in the population aged 60-79 has risen approximately by 21% between 1987 and 2006. The suicide rate in Hungary has decreased steadily and significantly since 1980 (4809 in 1980, 1656 in 2018, i.e. a decrease of 66%). Thus since 2018, Hungary is not among the top three countries in Europe and the top 15 in the world. However, the number of completed suicides and suicide attempts remains high and shows rising tendency in the elderly. Preventing suicide, exploring the risk factors and caring patients after attempted suicide we need to analyse thoroughly and disseminate widely the results of the recent researches. In this study, we re­viewed international and domestic literature data to find answers primarily to prevention issues. ]

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.]