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Clinical Neuroscience

JANUARY 30, 2021

[Cases of inborn errors of metabolism diagnosed in children with autism ]

ÇAKAR Emel Nafiye, YILMAZBAŞ 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.]

Journal of Nursing Theory and Practice

FEBRUARY 28, 2020

[Complication of the Metabolic Syndrome in Women with Polycystic Ovary Syndrome]

KOMLÓSI Kálmánné, KISS Sarolta, FERENCZY Mónika, MÁTÉ-PÓHR Kitti, PAKAI Annamária

[In our research we compared whether pregnant women with polycystic ovary syndrome or the mothers who were healthy through pregnancy has a higher risk to develop high BMI, metabolic syndrome, preeclampsia, polyhydramnion and macrosomia. Our research is a retrospective, cross-sectional study. In the random sampling within the target group, the target group was diagnosed with PCOS (n=50) and the control group was mothers who had undergone uninterrupted pregnancy (n=50). The exclusion criterion is the coexistence of other endocrine disease that may affect the parameters under consideration, in addition to the control group the diagnosis of PCOS. With IBM SPSS for Windows 22.0, we applied two-sample T-test and Khi2 test (p<0.05). The BMI values ​​measured in the PCOS study group are higher than in the control group (p<0,05). Pregnant women with PCOS has a higher risk of developing high blood pressure, and high cholesterol (p<0,05). The difference between the two groups can not be considered significant for the development of proteinuria and oedema. Emphasis should be placed on PCOS gravid care, early detection of metabolic disturbances, accurate documentation, and elimination of complications and illnesses associated with the disease.]

Lege Artis Medicinae

DECEMBER 21, 2020

[30 year history of surgery and the surgeon’s future ]

KUPCSULIK Péter

[During the past 3 decades, laparoscopic surgery has launched a revolution in operative medicine. The German gynaecologist Kurt Semm transformed the diagnostic laparoscopy for therapeutic procedure, as he performed the first laparoscopic ap­pen­dectomy. The surgeon Erich Mühe contributed with laparoscopic cholecystectomy to the set of surgical instruments. All over the world, a wide spectrum of laparoscopic procedures has been app­lied. Several laparoscopic procedures are now preferred over open approaches. Morbid obesity is associated with significant comorbidity and mortality. In­suffi­ciency of dietary measures lead to development of surgical interventions that resulted in unexpected excellent outcomes. “Metabolic surgery” was born. New methods and rising market of socio-medical requirements inspired progress in plastic surgery. Thanks to innovations in technology, reconstructive breast surgery has opened new ways. In the 1990s the prototype of “mas­ter–slave” robot controlled by a surgeon was constructed. Future of robotic surgery depends on cost reduc­tion, development of new technologies and creating the best applications. Coo­pe­ra­tion with partner medical specialities is essential for further development in surgery. Despite of obvious impact of new technologies the surgeon's way of thinking, personal qualities decision-making and professional knowledge remain cru­cial for further evolution. ]

Lege Artis Medicinae

NOVEMBER 30, 2020

[Some newly discovered mechanisms of action of the immune response and the conceptual transformation of immunology]

FALUS András

[Immunology is a complex science studying healthy and abnormal immune responses. This discipline of physiology and pathophysiology primarily understands the individual mechanisms through a cellular and molecular biological, genetic, epigenetic and (neuro) endocrinological approach, as well as by exploring the details of pathological processes. Im­mu­nology is one of the very rapidly evolving sciences, and its results have repercussions on other disciplines at both theoretical (eg network sciences, systems biology) and methodological (monoclonal antibodies, biomarkers, immune assays) levels. In recent decades, a number of conceptual novelty have been uncovered and immunologists have recognized essential details in their assertion in immunity. ]

Clinical Oncology

DECEMBER 30, 2019

[Chemicals and tumors]

MARCSEK Zoltán

[Tumorigenesis is driven usually by non-lethal genetic alterations such as malfunctioning regulatory systems; mainly by inactivating suppressor genes or activating proto-oncogenes or malfunctioning of apoptatic system or decresed activity of the DNA repair system. Several chemicals induces mutations in the regulatory genes forces the cell for continous divisions increasing the chance of accumulation of further mutations. Chemicals, inducing mutations (mutagens) increase the rate of tumor occurrence, are carcinogens.]

Clinical Neuroscience

NOVEMBER 30, 2020

[New results of neuroscience research – the background of symptomatological and etiological diversity of mental disorders]

OSVÁTH Péter

[Nowadays, the focus of genetic, neurobiological, neuropsychological and psychosocial research is on a more accurate discovery of the etiology of mental illnesses, especially with regard to the role and complex interactions of certain risk factors. It is increasingly challenging to interpret the results of different aspects and methodologies in a coherent theoretical framework, as this can only lead to a more accurate understanding of the complexity and mechanism of the psychiatric disorders. The main aim of this paper to overview recent studies on etiological background of mental disorders and to present the most important aspects of the Research Domain Criteria (RDoC) system. Review of reports from comprehensive studies published in the most important psychiatric journals over the past five years summarizing new findings on the etio­logy of mental disorders. Although current classifications indicate that mental disorders are strictly distinct diagnostic categories, new findings suggest that these marked differences in symptomatic, genetic, and neurobiological backgrounds are not detectable, as many mental disorders have been identified as having common molecular genetic risk factors, which may indicate common neurobiological pathomechanisms. Research results support the need for a rethinking of psychiatric nosology on an etiological basis and represent an important step forward in the more accurate exploration of the neurobiological background factors of mental disorders and thus in the development of more targeted therapeutic approaches. The development of the RDoC system can be a great help in this, as this dimensional approach offers the possibility of integrating the - often diffuse or even contradictory - neuroscientific research findings into a unified theoretical framework for the etiology, nosology and treatment of mental disorders. ]

Hypertension and nephrology

NOVEMBER 04, 2020

[The ACE2-Ang(1-7)-Mas axis as a new option for lowering blood pressure]

KÉKES Ede

[The ACE2-Ang(1-7)-Mas axis counterbalances the ACE/Ang II-AT1R axis in our body in order to maintain normal homeostasis. During the Covid-19 pandemic, this protective system came to the fore again and its beneficial effects on the cardiovascular-metabolic system, including the significant antihypertensive effect, are being clarified. In our brief summary, we analyze the essential aspects of this research.]

Hypertension and nephrology

NOVEMBER 04, 2020

[Covid-19 and the diabetes mellitus]

SIMONYI Gábor

[In late 2019 the epidemic of new coronavirus disease (Covid-19) from Wuhan, China, posed major challenges to the health systems of even the most developed countries. High mortality of the disease has been observed mainly in the elderly and in those with various cardiovascular and metabolic comorbidities. In this summary, the relationship between diabetes mellitus]

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.]

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.