Single-Nucleotide Polymorphisms in Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) mainly includes ulcerative colitis (UC) and Crohn’s disease (CD). Both conditions are characterized by chronic inflammation of the gastrointestinal tract, with alternating periods of relapse and remission. Both forms of IBD involve an uncontrolled inflammatory process in the intestines, leading to worsening quality of life and requiring long-term medical and/or surgical intervention. Epidemiological and clinical studies suggest that the pathogenesis of inflammatory bowel disease is strongly linked to genetic predisposition. CD and UC are considered polygenic diseases in which familial clustering is observed in 5–10% of patients. Among genetic factors associated with IBD development, it has been found that many single nucleotide polymorphisms are associated with susceptibility to IBD progression. SNP can affect the production or function of a protein and thus affect the development of the disease. However, although the overall role of genes involved in the development of IBD is already in most cases known, as of today it is unclear how the SNPs in these genes affect cellular function, or how such changed cellular functions would contribute to the development of IBD. In the present work several selected polymorphisms in genes involved in IBD development are discussed

Pancreatic neuroendocrine tumours in patients with von Hippel-Lindau disease

Von Hippel-Lindau disease is a highly penetrant autosomal genetic disorder caused by a germline mutation in the tumour suppressor gene, manifesting with the formation of various tumours, including neuroendocrine tumours of the pancreas. The incidence of the latter is not very high, varying from 5% to 18%. To compare, haemangioblastomas and clear cell renal carcinoma are present in 70% of von Hippel-Lindau patients and are considered the main prognostic factors, with renal cancer being the most common cause of death. However, pancreatic neuroendocrine tumours should not be neglected, considering their malignant potential (different to sporadic cases), natural history, and treatment protocol. This paper aims to review the literature on the epidemiology, natural history, treatment, and surveillance of individuals affected by pancreatic neuroendocrine tumours in von Hippel-Lindau disease

Risk Factors in Normal-Tension Glaucoma and High-Tension Glaucoma in relation to Polymorphisms of Endothelin-1 Gene and Endothelin-1 Receptor Type A Gene

The aim of the research is to analyse the influence of polymorphisms of endothelin-1 gene and endothelin-1 receptor type A gene on the clinical condition of patients with primary open angle glaucoma. Methods. 285 Polish patients took part in the research (160 normal-tension glaucoma and 125 high-tension glaucoma). DNA was isolated by standard methods and genotype distributions of four polymorphisms in genes encoding endothelin-1 (K198N) and endothelin-1 receptor type A polymorphisms (C1222T, C70G, and G231A) were determined. Genotype distributions were compared between NTG and HTG groups. The clinical condition of participants was examined for association with polymorphisms. Results. A similar frequency of occurrence of the polymorphic varieties of the studied genes was observed in patients with NTG and HTG. There is no relation between NTG risk factors and examined polymorphisms. NTG patients with TT genotype of K198N polymorphism presented with the lowest intraocular pressure in comparison to GG + GT genotype (p=0.03). In NTG patients with CC genotype of C1222T polymorphism (p=0.028) and GG of C70G polymorphism (p=0.03) the lowest values of mean blood pressure were observed. Conclusions. The studied polymorphic varieties (K198N, C1222T) do have an influence on intraocular pressure as well as arterial blood pressure in NTG patients

Informacja dotycząca leczenia w relacji lekarz-pacjent

Introduction. Information connected with treatment, especially concerning potential side effects of medication, is an important part of physi­cian-patient relationship. Aim of the study. Evaluate patients opinions in area of information concerning medication obtained from physician. Material and methods. The study included 120 subjects (78 women and 42 men) at age between 19 and 87 years old. A method of proprietary questionnaire was used. Results. 78.3% of patients always or often are informed by physician about the aim of advised treatment, 93.3% are given information about the way of administration of medications. 25% studied persons always or often were aware of the potential adverse effects connected with treatment, 24.2% are never informed about this risk; 59.2% of patients would like to be informed about side effects of drugs, 47.5% of studied persons expect information on how medication works, this kind of knowledge is especially sought by younger patients. Conclusions. Physicians have informed the patients about adverse effects connected with treatment too seldom. This should encourage doctors to put more attention to this part of therapeutic process. Patients, especially younger ones, expect clear information about the treatment, particularly regarding the way a drug works and its potential side effects. Fulfillment of this expectations will result in respecting patient’s rights as well as will help avoid medical errors.Wstęp. Informacja dotycząca ordynowanego leczenia, w szczególności dotycząca działań niepożądanych leków, jest ważnym elementem właściwej relacji lekarz-pacjent. Cel pracy. Analiza opinii pacjentów o otrzymywanych informacjach o celu, działaniu i możliwych skutkach niepożądanych proponowanego leczenia oraz tego, jakich informacji pacjent oczekuje od lekarza. Materiał i metody. Badaniem objęto 120 osób (78 K i 42 M) w wieku od 19 do 87 lat (średnio 43,9 ± 17,2). Zastosowano metodę autorskiego kwestionariusza ankiety. Wyniki poddano analizie statystycznej. Wyniki. W trakcie wizyty w gabinecie 78,3% badanych zawsze lub często otrzymywało od lekarza informacje o celu zaleconego leczenia, 93,3% o sposobie dawkowania leków; 25% badanych zawsze lub często jes t uprzedzanych o działaniach niepożądanych leków, a kolejne 24,2% nie otrzymywało takiej informacji nigdy; 59,2% badanych chciałoby otrzymywać informacje o efektach ubocznych terapii, 47,5% pacjentów oczekuje także informacji o działaniu leków, w tej grupie przeważają pacjenci młodsi. Wnioski. Informacja dotycząca możliwych zdarzeń niepożądanych zalecanego leczenia przekazywana jest podczas wizyty lekarskiej zbyt rzadko. Fakt ten powinien skłonić lekarzy do zwrócenia większej uwagi na ten aspekt procesu terapeutycznego. Pacjenci, szczególnie w młodszych grupach wiekowych, oczekują jasno sprecyzowanych informacji o leczeniu, szczególnie o działaniu leku, w tym niepożądanym. Spełnienie tych oczekiwań będzie nie tylko realizacją praw pacjenta, ale także pozwoli lekarzowi uniknąć informacyjnego błędu medycznego

Influence of the intestinal microbiota on the development of irritable bowel syndrome

The human intestinal microbiota is made up of trillions of microorganisms that are considered to be nonpathogenic. The microbiota functions in tandem with the host’s defences and the immune system to protect against pathogen colonisation and invasion. It also performs an essential metabolic function, acting as a source of essential nutrients and vitamins and aiding in the extraction of energy and nutrients, such as short-chain fatty acids (SCFA). Gut microbiota alterations are being increasingly recognized as an important factor in the pathogenesis and pathophysiology of irritable bowel syndrome (IBS). Irritable bowel syndrome is a disease with a complex and unknown etiology. It is a functional disease although many researchers regard it as chronic, due to the long duration or frequent recurrence. IBS is characterized by abdominal pain and disturbances in bowel habits (constipation and/or diarrhea), in the absence of pathological organic changes. Studies in recent years have shown a significant effect of the intestinal microflora and intestinal cerebrospinal axis in the pathogenesis of the disease. Modulation of the intestinal microflora using probiotics and the focus on the function of uncultured intestinal microbiota will offer new opportunities for treatment of patients with this syndrome. Research into the intestinal microflora (the properties of microorganisms) is a promising direction, allowing for further understanding and characterization of many bacteria responsible for the pathophysiology and symptoms of IBS. It is still an enigmatic disease of multifactorial etiology, which seems to be related in significant ways to the composition of the intestinal microbiota. Research on the use of probiotics and prebiotics in IBS should be continued in numerous, well-planned clinical trials in order to obtain the best results in reducing IBS symptoms.Mikroflora jelitowa człowieka składa się z bilionów drobnoustrojów, które uważane są za niepatogenne. Funkcją flory bakteryjnej wraz z systemem immunologicznym jest ochrona gospodarza przed kolonizacją i inwazją patogenu. Pełni także istotną funkcję metaboliczną, dostarczając środków odżywczych i witamin oraz energii poprzez rozkład węglowodanów złożonych do cukrów prostych i krótkołańcuchowych kwasów tłuszczowych (ang. short – chain fatty acids – SCFA). Zaburzenia mikroflory jelitowej są w coraz większym stopniu uznawane za waż- ny czynnik w patogenezie i patofizjologii zespołu jelita drażliwego (ZJD) (ang. IBS – irritable bowel syndrome). Jest on schorzeniem o złożonej i nieznanej etiologii, jest chorobą czynnościową, chociaż wielu badaczy zalicza ją do przewlekłych, ze względu na długotrwały przebieg i częste nawroty. ZJD charakteryzuje się znamiennymi bólami brzucha oraz zaburzeniami rytmu wypróżnień (zaparcie i /lub biegunka), przy braku patologicznych zmian organicznych. Badania ostatnich lat wskazują na znaczący wpływ mikroflory jelitowej i osi mózgowo-jelitowej w patogenezie schorzenia. Modulacja mikroflory jelitowej za pomocą probiotyków i prebiotyków oraz badania nad dotychczas nie hodującymi się in vitro bakteriami mikrobioty jelitowej, pozwolą na nowe możliwości w leczeniu pacjentów z tym zespołem. Badania mikroflory jelitowej (właściwości drobnoustrojów) są obiecującym kierunkiem, pozwalającym na dalsze poznanie i charakterystykę wielu bakterii odpowiedzialnych za patofizjologię i objawy ZJD. Jest to nadal enigmatyczna choroba o wieloczynnikowej etiopatogenezie, w której wydaje się odgrywać istotną rolę skład mikrobioty jelitowej. Badania w kierunku zastosowania probiotyków i prebiotyków w zmniejszaniu objawów chorobowych ZJD, powinny być nadal kontynuowane w badaniach klinicznych w celu uzyskania jak najlepszych rezultatów

Wizualizacje w ocenie ryzyka inwestycyjnego i sterowaniu poziomem zapasów z wykorzystaniem programu GeoGebra

The development of information technology forces the usage of software tools in the analysis and visualisation of risk in various fields including economics, finance, management. The graphic presentation of analysis results as well as various relationships contributes to their better understanding. Modern computer software allows for showing dynamics of various decision problems. The aim of the paper is to present the dynamic visualisations of risk analysis in selected fields using the GeoGebra software.Rozwój technologii informatycznych wymusza korzystanie z programów komputerowych w zakresie analizy i wizualizacji ryzyka w różnych dziedzinach, w tym ekonomii, finansach, zarządzaniu. Graficzne przedstawienie wyników analizy, jak również różnych zależności, przyczynia się do ich lepszego zrozumienia. Nowoczesne oprogramowanie komputerowe pozwala na pokazywanie dynamiki różnych problemów decyzyjnych. Celem artykułu jest przedstawienie wybranych dynamicznych wizualizacji ryzyka utworzonych z wykorzystaniem programu GeoGebra

Almost Stochastic Dominance in Stocks Preselection

The stochastic dominance rules are a very popular tool in the support of decision making in various fields of economics and management. However the selection of the best alternative on the basis of stochastic dominance is sometimes impossible due to incomparability of alternatives. Some particular properties of almost second degree stochastic dominance (which stochastic dominance do not posses) allow to compare all elements of the set of random alternatives and to build a ranking of them. The aim of the article is to propose a stocks preselection method based on almost stochastic dominance. Our method allow to determine the set of the best stocks and thereby to reduce the number of stocks as a potential elements of a portfolio. Such reduction is very important nowadays because with every year more and more stocks are quoted on Stock Exchange in Warsaw

Comparison of the Valuations of Alternatives Based on Cumulative Prospect Theory and Almost Stochastic Dominance

There are commonly accepted and objective decision rules, which are consistent with rationality, for example stochastic dominance rules. But, as can be seen in many research studies in behavioral economics, decision makers do not always act rationally. Rules based on cumulative prospect theory or almost stochastic dominance are relatively new tools which model real choices. Both approaches take into account some behavioral factors. The aim of this paper is to check the consistency of orders of the valuations of random alternatives based on these behavioral rules. The order of the alternatives is generated by a preference relation over the decision set. In this paper, we show that the methodology for creating rankings based on total orders can be used for the preference relations considered, because they enable comparison of all the elements in a set of random alternatives. For almost second degree stochastic dominance, this is possible due to its particular properties, which stochastic dominance does not possess. (original abstract