180 research outputs found
Atheism and discrimination in the face of contemporary changes in the world
The aim of this article is to present the situation of atheists around the world in the face of political and cultural changes in the world due to the increase in religious radicalism, particularly Islamic one, migration and terrorism. The article is of an illustrative character and presents the review of English literature in the scope of the discussed subject matter. Furthermore, the results of the latest global reports on prevalence of atheism in the world and the phenomenon of discrimination against persons not identifying with any faith: atheists, humanists or freethinkers were presented. The results of the selected, recent studies on the social perception of atheists and the phenomena of discrimination against them were shown. Another raised issue was the new social movement called New Atheism widespread mainly in the countries of the Western culture that in the future can constitute a new social and political challenge. Conclusions: Between 2005 and 2012 the number of atheists increased by 3% and currently they constitute 13% of the population of the world, while the percentage of religious people decreased by 9%. Atheists like other minority groups are discriminated against and their situation is dependent on the country in which they live. However, the vast majority of countries in the world violates the rights of persons identifying themselves as atheists. Still, in some countries, the declaration of atheism is forbidden, and in 13 countries the death penalty can be imposed.The aim of this article is to present the situation of atheists around the world in the face of political and cultural changes in the world due to the increase in religious radicalism, particularly Islamic one, migration and terrorism. The article is of an illustrative character and presents the review of English literature in the scope of the discussed subject matter. Furthermore, the results of the latest global reports on prevalence of atheism in the world and the phenomenon of discrimination against persons not identifying with any faith: atheists, humanists or freethinkers were presented. The results of the selected, recent studies on the social perception of atheists and the phenomena of discrimination against them were shown. Another raised issue was the new social movement called New Atheism widespread mainly in the countries of the Western culture that in the future can constitute a new social and political challenge. Conclusions: Between 2005 and 2012 the number of atheists increased by 3% and currently they constitute 13% of the population of the world, while the percentage of religious people decreased by 9%. Atheists like other minority groups are discriminated against and their situation is dependent on the country in which they live. However, the vast majority of countries in the world violates the rights of persons identifying themselves as atheists. Still, in some countries, the declaration of atheism is forbidden, and in 13 countries the death penalty can be imposed
Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation
Objective
Dopa-responsive dystonia (DRD) is a rare form of hereditary movement disorder with onset in childhood, characterized by gait difficulties due to postural dystonia with marked improvement after low doses of levodopa. Mutations in the GCH1 gene are the most common cause of DRD, however, in some cases when the disease is associated with parkinsonism mutations in the PARK2 gene may be identified. The aim of this study was to analyze and compare genotype–phenotype correlation.
Material/participants
Four families with inter- and intrafamilial variability of progressive gait dysfunction due to lower limb dystonia occurring in childhood or adolescence were included in the analysis.
Methods
General and neurological examination was performed for all affected family members and asymptomatic mutation carriers. The molecular analysis encompassed GCH1 and PARK2 genes.
Results
All probands were clinically diagnosed with DRD. The molecular analysis revealed, however, that the dopa-responsive dystonia phenotype was caused by a mutation in the GCH1 gene in three families and in the PARK2 gene in one family. Obtained results allowed to establish the final diagnosis for all families as DYT5a or early-onset Parkinson disease (EO-PD).
Conclusions
Reported cases confirm that the DRD phenotype may have heterogeneous genetic background and may be caused by point mutations or rearrangements in the GCH1 gene as well as in the PARK2 gene. Differential diagnosis and genetic tests covering the analysis of genes causative for DRD and EO-PD should be obligatory in both disorders diagnostics as DRD, mainly adolescent onset dystonia, may be associated with parkinsonism
The effect of initial sonication on disinfectant efficacy against Listeria monocytogenes biofilm
Background: Listeria monocytogenes is a Gram-positive, foodborne pathogen. Biofilms formed by thisbacterium are a serious problem in the food industry. Bacteria in biofilms are much more resistant to cleaningand disinfection agents posing a risk of food recontamination. The aim of this study was the assessmentof the influence of initial sonication on disinfectant efficacy, based on QAC, against L. monocytogenesbiofilm on the stainless steel.Methods: The biofilm formed on the stainless steel by the reference strain L. monocytogenes ATCC 19111was sonicated for 1 and 5 minutes (500W/ 20kHz/ 100% amplitude). Then disinfection with quaternaryammonium compounds (0.5% working solution) was applied for 1 and 5 minutes and the number ofbacteria recovered from the biofilm was assessed.Results: It was found that disinfection was more efficient than sonication (p ≤ 0.05). However, the combinationof sonication and disinfection significantly improved biofilm eradication compared to the use ofone of these methods separately (p ≤ 0.05). The greatest reduction of bacteria number was achieved after5 minutes of sonication combined with 5 minutes of disinfection (6.42 log CFU × cm-2), whereas the lowestreduction was observed after 1 minute-sonication (2.03 log CFU × cm-2).Conclusions: Combination of sonication and disinfection based on quaternary ammonium compounds isan effective method allowing biofilm eradication from the food production surfaces
Duplikacja genu PLP1 jako przyczyna klasycznej postaci choroby Pelizaeusa-Merzbachera – opis przypadku
Abstract
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelination disorder of the central nervous system (CNS). PMD is caused by mutations in the PLP1 gene located at Xq22 and encoding the major myelin component in CNS, proteolipid protein 1 (PLP1). The disease is clinically heterogeneous. Phenotypes are generally categorized into classic and connatal forms. Connatal PMD has more rapid progression with early death, while patients with classic PMD generally survive to adulthood. Both forms of the disease are caused by point mutations as well as rearrangements – multiplication (mainly duplication) and deletion of the PLP1 gene.
We present a case of a male patient affected by the classic form of PMD with benign course, except severe dysarthria with the characteristic laryngeal stridor, which is more typical for connatal form of the disease. The diagnosis has been confirmed at the molecular level. The patient has duplication of all 7 exons of the PLP1 gene. This duplication was inherited from the patient's mother, who is an unaffected carrier of the mutation. The patient's family pedigree analysis revealed the interfamilial variability of the phenotype among affected male relatives.Streszczenie
Choroba Pelizaeusa-Merzbachera (Pelizaeus-Merzbacher disease – PMD) to rzadka, sprzężona z chromosomem X choroba dysmielinizacyjna ośrodkowego układu nerwowego (OUN). Spowodowana jest mutacjami znajdującego się w locus Xq22 genu PLP1, kodującego główny składnik otoczki mielinowej OUN, białko proteolipidowe 1 (PLP1). Charakteryzuje się heterogennością obrazu klinicznego. Wyróżniamy dwie jej postacie – wrodzoną i klasyczną. W obu formach pierwsze objawy występują już we wczesnym dzieciństwie. W postaci wrodzonej progresja choroby jest jednak zdecydowanie szybsza, w postaci klasycznej pacjenci osiągają zazwyczaj średni wiek życia. Podłoże molekularne obu postaci choroby stanowią zarówno mutacje punktowe, jak i rearanżacje genu – multiplikacje (głównie duplikacje) oraz delecje genu PLP1.
W pracy przedstawiono opis przypadku mężczyzny z klasyczną postacią PMD o łagodnym przebiegu, u którego występowały objawy charakterystyczne dla postaci wrodzonej – nasilone zaburzenia artykulacji mowy o typie stridoru krtaniowego. Rozpoznanie choroby zostało potwierdzone badaniami genetycznymi. U pacjenta stwierdzono duplikację wszystkich eksonów genu PLP1. Mutacja została odziedziczona od matki, bezobjawowej nosicielki. Analiza rodowodowa wykazuje u chorego rodzinną postać choroby o zmiennym obrazie fenotypowym u spokrewnionych chorych płci męskiej
Ateizm i dyskryminacja w obliczu współczesnych zmian na świecie
The aim of this article is to present the situation of atheists around the world in the face of political and cultural changes in the world due to the increase in religious radicalism, particularly Islamic one, migration and terrorism. The article is of an illustrative character and presents the review of English literature in the scope of the discussed subject matter. Furthermore, the results of the latest global reports on prevalence of atheism in the world and the phenomenon of discrimination against persons not identifying with any faith: atheists, humanists or freethinkers were presented. The results of the selected, recent studies on the social perception of atheists and the phenomena of discrimination against them were shown. Another raised issue was the new social movement called New Atheism widespread mainly in the countries of the Western culture that in the future can constitute a new social and political challenge.The aim of this article is to present the situation of atheists around the world in the face of political and cultural changes in the world due to the increase in religious radicalism, particularly Islamic one, migration and terrorism. The article is of an illustrative character and presents the review of English literature in the scope of the discussed subject matter. Furthermore, the results of the latest global reports on prevalence of atheism in the world and the phenomenon of discrimination against persons not identifying with any faith: atheists, humanists or freethinkers were presented. The results of the selected, recent studies on the social perception of atheists and the phenomena of discrimination against them were shown. Another raised issue was the new social movement called New Atheism widespread mainly in the countries of the Western culture that in the future can constitute a new social and political challenge
From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit
Objective
The aim of this study was to analyze the intra-/interfamilial phenotypic heterogeneity due to variants at the highly evolutionary conservative p.Arg1596 residue in the Nav1.1 subunit.
Materials/participants
Among patients referred for analysis of the SCN1A gene one recurrent, heritable mutation was found in families enrolled into the study. Probands from those families even clinically diagnosed with atypical Dravet syndrome (DS), generalized epilepsy with febrile seizures plus (GEFS+), and focal epilepsy, had heterozygous p.Arg1596 His/Cys missense substitutions, c.4787G>T and c.4786C>T in the SCN1A gene.
Method
Full clinical evaluation, including cognitive development, neurological examination, EEGs, MRI was performed in probands and affected family members in developmental age. The whole SCN1A gene sequencing was performed for all probands. The exon 25, where the identified missense substitutions are localized, was directly analyzed for the other family members.
Results
Mutation of the SCN1A p.1596Arg was identified in three families, in one case substitution p.Arg1596Cys and in two cases p.Arg1596His. Both mutations were previously described as pathogenic and causative for DS, GEFS+ and focal epilepsy. Spectrum of phenotypes among presented families with p.Arg1596 mutations shows heterogeneity ranged from asymptomatic cases, through FS and FS+ to GEFS+/Panayiotopoulos syndrome and epilepsies with and without febrile seizures, and epileptic encephalopathy such as DS. Phenotypes differ among patients displaying both focal and generalized epilepsies. Some patients demonstrated additionally Asperger syndrome and ataxia.
Conclusion
Clinical picture heterogeneity of the patients carrying mutation of the same residue indicates the involvement of the other factors influencing the SCN1A gene mutations’ penetrance
Effect of commercially available spices and herbs on the survival of Listeria monocytogenes and Salmonella Enteritidis
Background: Currently, natural food preservation methods are explored, one of which includes the useof herbs and spices.Methods: The study assessed the effect of herbs and spices; either opened directly before the test oropened and stored for three months; on the survival of L. monocytogenes and S. Enteritidis bacilli, isolated from meat. Moreover, the microbiological purity of the investigated herbs and spices was evaluated. The research consisted of the analysis of inhibition zone patterns around the wells with spice pulp after the incubation period.Results: Varied influence of herbs and spices on the survival of bacilli was reported, depending on thespecies. The strongest impact against L. monocytogenes, among freshly opened spices, had: granulatedgarlic (38.63 mm), whole cloves (28.87 mm), savoury (22.25 mm), ground cinnamon (22.13 mm), ground ginger (18.75 mm). As for S. Enteritidis, in the group of freshly opened spices, the strongest effect was found for: granulated garlic (37.25 mm), whole cloves (31.50 mm), and ground cinnamon (18.16 mm). It was reported that the storage of open spices caused a decrease in antimicrobial activity against L. monocytogenes, except for cloves, oregano, hot pepper, chilli, sage and turmeric. In the case of S. Enteritidis, the following stored spices were not effective: cinnamon, ground black pepper, sage, oregano, basil, tarragon, marjoram, rosemary, coriander, green mint, hot pepper, chilli, curry.Conclusions: It was confirmed, that herbs and spices, because of its antimicrobial activity can be used,e.g. for food preservation, minimizing the amount of chemical additives applied to the product and extending its shelf-life
Mutacje w genie PRRT2 jako przyczyna napadowych dyskinez kinezygennych u młodego mężczyzny z dodatnim wywiadem rodzinnym w kierunku migreny
Dyskinezy napadowe charakteryzują się występowaniem krótkotrwałych incydentów ruchówmimowolnych, poprzedzonych wykonywaniem gwałtownych czynności celowych. Opisano trzy typy dyskinez napadowych: prowokowane ruchem (PKD, paroxysmal kinesigenic dyskinesia), nieprowokowane ruchem (PNKD, non-kinesigenic dyskinesia) oraz prowokowane wysiłkiem (PED,exercise induced dyskinesia). Jednym z typów PKD jest dziedziczna dystonia DYT10. Jest to choroba dziedziczona autosomalnie dominująco, z niepełną penetracją mutacji genu, której podłoże molekularne stanowią heterozygotyczne mutacje w genie PRRT2. DYT10 charakteryzuje się nawracającymi, trwającymi kilka sekund lub minut, napadami ruchów mimowolnych, prowokowanych wykonywaniem ćwiczeń fizycznych lub występujących pod wpływem innych bodźców. Początek objawów choroby obserwuje się w dzieciństwie lub okresie dojrzewania. W rodzinach ze zdiagnozowaną PKD często obserwuje się heterogenność objawów u nosicieli mutacji w genie PRRT2, szczególnie odnotowuje się dodatni wywiad w kierunku migreny. Spektrum objawów klinicznych powodowanych mutacjami w genie PRRT2 jest szerokie. W przypadku DYT10 niektóre objawy mogą występować łącznie z występującymi rodzinnie łagodnymi drgawkami wieku dziecięcego czy napadową choreoatetozą. W artykule zaprezentowano kliniczną i molekularną charakterystykę 19-letniego chorego z objawami PKD oraz jego matki z objawami migreny, bez towarzyszących dyskinez. U obojga zidentyfikowano mutację w genie PRRT2. Skuteczne było leczenie karbamazepiną. Wyniki przeprowadzonych badań sugerują różnorodne spektrum fenotypowe w związku z niepełną penetracją mutacji genu PRRT2
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report
Nitrogen-Doped Carbon Encapsulated Nickel/Cobalt Nanoparticle Catalysts for Olefin Migration of Allylarenes
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