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A gerincvelői izomsorvadás újszülöttkori szűrésének eredményei Magyarországon 2023-ban
Results of neonatal screening for spinal muscular atrophy in Hungary in 2023
technology evaluation 15. Pharmacoecon Open 2023; 7: 863–875. Erratum: Pharmacoecon Open 2023; 7: 1015. 5 Crawford TO, Swoboda KJ, DeVivo DC, et al
Abstract
The basidiomycetes yeast Trichosporon is widespread in the natural environment, but can cause disease, mainly in immunocompromised patients. However, there have been only few studies about this infection in Thailand. In this study, we characterized 53 Trichosporon spp. isolated from urine samples from patients admitted to a single hospital in Bangkok, Thailand over a one-year period from 2019 to 2020. The strains were identified using colony morphology, microscopy, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, and nucleotide sequence analysis of intergenic spacer 1 (IGS1). Fifty-one isolates were Trichosporon asahii, and the remaining isolates were Trichosporon inkin and other Trichosporon species. Three genotypes of IGS1—1, 3, and 7 were observed among T. asahii. The sensitivity of the yeasts to the antifungal drugs amphotericin B, fluconazole, and voriconazole ranged from 0.25 to >16 μg ml−1, 0.5–8 μg ml−1, and 0.01–0.25 μg ml−1, respectively. We investigated biofilm formation by the isolates, and no biofilm production was found in one isolate, low biofilm production in forty-four isolates, and medium biofilm production in six isolates. T. inkin produced biofilms at low levels, and Trichosporon spp. produced biofilms at medium levels. This research increases our understanding of the molecular epidemiology of Trichosporon spp. isolated from one university hospital in Bangkok, Thailand, and reveals their genetic diversity, antifungal susceptibility profiles, and capacity for in vitro biofilm production.
Egészséggel kapcsolatos célok Crohn-betegek körében.
Az infokommunikációs eszközök szerepe
Health goals amongst patients with Crohn’s disease.
The role of the internet and digital technology
Burke M, Settles B. Plugged in to the community: social motivators in online goal-setting groups. In: Proceedings of the Fifth International Conference on Communities and Technologies, C&T 2011, Brisbane, QLD, June
Gyermekkori genetikai rendellenességek diagnosztikája újgenerációs szekvenálással
Diagnosis of genetic disorders in childhood with next-generation sequencing
Az újgenerációs szekvenáláson (NGS) alapuló diagnosztika legnagyobb előnye, hogy nagyszámú gén párhuzamos szekvenálása révén a genetikai rendellenességek kiterjedt repertoárját képes egyetlen vizsgálattal lefedni. Az analízis viszonylag kisebb költsége és az adatmennyiség kezelhetőbb mennyisége folytán a célzott génpanelek használata, illetve a teljesexom-szekvenálás (WES) a leginkább elérhető NGS-alapú módszer. Összefoglalónkban az NGS létjogosultságát vizsgáljuk gyermekkori genetikai rendellenességek diagnosztikájában. Áttekintjük az öröklött anyagcserezavarok, daganatos megbetegedések és egyéb gyermekkori genetikai rendellenességek NGS-alapú diagnosztikájában fontos szerepet játszó géneket. A kora gyermekkori rendellenességek NGS-alapú diagnosztikájának rutinszerű használata előtt számos technikai és klinikai kérdés vár még megválaszolásra. Jelenleg a legnagyobb kihívást a ritka genetikai variánsok értelmezése és a mutációk patogenitásának igazolása jelenti. Orv Hetil. 2022; 163(51): 2027–2040.
Personal choice is a nuanced concept – Lessons learned from the gambling field
Commentary on: Problematic risk-taking involving emerging technologies: A Stakeholder framework to minimize harms (Swanton et al., 2019)
Swanton, Blaszczynski, Forlini, Starcevic, and Gainsbury (2019) propose a thoughtful framework for minimizing the personal harm that is potentially associated with new technologies. Broadly defined these technologies and behaviors include online
A new digital Cobalt-60 combined stereotactic radiotherapy and radiosurgery system, termed as the GyroKnife, was developed in Shanghai, China in 2004. The equipment integrates advantages of previous generations of gamma radiosurgery techniques and linear accelerators. The technology has the capacity for non-invasive whole-body stereotactic fractionated radiotherapy and single high-dose radiosurgery as well. Using a triple focussing method, high isocenter accuracy (0.5~1.0 mm) and minimal skin (550:1) or normal tissue irradiation dose were achieved with 4 various sizes of collimator sets (5, 15, 25, 50 mm). The first GyroKnife Center in Kang Da Hospital, Xiang Fan, China, has already treated 100 cases with different tumours in the brain and body since November 2006. The technical details of the system will be presented, and the preliminary clinical results will also be discussed.
Abstract
In this study, the prevalence of Avian orthoavulavirus-1 (AOAV-1) (also commonly known as Newcastle disease virus) was investigated in caged birds kept in bird markets in the Lahore district of Pakistan. A total of 354 swab samples were obtained from 14 different species of clinically healthy birds. The overall virus prevalence was 12.7% in 9 out of the 14 species. Phylogenetic analysis of the complete fusion protein (F) gene showed that 23 isolates from different avian species belonged to sub-genotype VII.2 while three isolates of pigeon origin clustered with sub-genotype XXI.1.2. The VII.2 viruses isolated had a high nucleotide identity to viruses repeatedly isolated from poultry in Pakistan from 2011 to 2018. To date, sub-genotype XXI.1.2 viruses have only been identified in Pakistan. These findings suggest that the Newcastle disease (ND) outbreaks occurring in Pakistan involve multiple hosts and environments. The study emphasises the importance of continuing to monitor multiple avian species for the presence of AOAV-1s and implementing effective ND control strategies.
Abstract
This study aimed to evaluate the routine identification tools available in Lebanon for differentiation of Escherichia coli and Shigella spp. The identification of 43 isolates defined as Shigella spp. by Api 20E was accessed using MALDI-TOF, serological testing, duplex PCR targeting ipaH (present in Shigella spp. and enteroinvasive E. coli “EIEC”) and lacY (found in E. coli including EIEC but not Shigella spp.) as well as gyrB gene sequencing. Antibiotic susceptibility was investigated as well as Shiga-toxin production. All isolates were identified as E. coli by MALDI-TOF while the PCR showed a disparate group of 26 EIEC, 11 Shigella spp., 5 E. coli and 1 inactive E. coli. However, the sequencing of gyrB gene, which was recently described as a suitable marker for distinguishing E. coli and Shigella spp., identified all isolates as E. coli. Antibiotic resistance was noticeable against ß-lactams, rifampicin, trimethoprim-sulfamethoxazole, gentamicin, and ciprofloxacin. The most common variants of beta-lactamase genes were bla TEM-1, bla CTX-M-15, and bla CTX-M-3. A great discordance between the used methods in identification was revealed herein. An accurate identification technique able to distinguish E. coli from Shigella spp. in routine laboratories is a pressing need in order to select the appropriate treatment and assess the epidemiology of these bacteria.
Abstract
The commensal microflora collection known as microbiota has an essential role in maintaining the host's physiological homeostasis. The microbiota has a vital role in induction and regulation of local and systemic immune responses. On the other hand, the immune system involves maintaining microbiota compositions. Optimal microbiota-immune system cross-talk is essential for protective responses to pathogens and immune tolerance to self and harmless environmental antigens. Any change in this symbiotic relationship may cause susceptibility to diseases. The association of various cancers and auto-immune diseases with microbiota has been proven. Here we review the interaction of immune responses to gut microbiota, focusing on innate and adaptive immune system and disease susceptibility.
