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1.
Nature ; 613(7945): 704-711, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36482134

RESUMO

During the COVID-19 pandemic, sizeable groups of unvaccinated people persist even in countries with high vaccine access1. As a consequence, vaccination became a controversial subject of debate and even protest2. Here we assess whether people express discriminatory attitudes in the form of negative affectivity, stereotypes and exclusionary attitudes in family and political settings across groups defined by COVID-19 vaccination status. We quantify discriminatory attitudes between vaccinated and unvaccinated citizens in 21 countries, covering a diverse set of cultures across the world. Across three conjoined experimental studies (n = 15,233), we demonstrate that vaccinated people express discriminatory attitudes towards unvaccinated individuals at a level as high as discriminatory attitudes that are commonly aimed at immigrant and minority populations3-5. By contrast, there is an absence of evidence that unvaccinated individuals display discriminatory attitudes towards vaccinated people, except for the presence of negative affectivity in Germany and the USA. We find evidence in support of discriminatory attitudes against unvaccinated individuals in all countries except for Hungary and Romania, and find that discriminatory attitudes are more strongly expressed in cultures with stronger cooperative norms. Previous research on the psychology of cooperation has shown that individuals react negatively against perceived 'free-riders'6,7, including in the domain of vaccinations8,9. Consistent with this, we find that contributors to the public good of epidemic control (that is, vaccinated individuals) react with discriminatory attitudes towards perceived free-riders (that is, unvaccinated individuals). National leaders and vaccinated members of the public appealed to moral obligations to increase COVID-19 vaccine uptake10,11, but our findings suggest that discriminatory attitudes-including support for the removal of fundamental rights-simultaneously emerged.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Conhecimentos, Atitudes e Prática em Saúde , Internacionalidade , Preconceito , Recusa de Vacinação , Vacinação , Humanos , Direitos Civis/psicologia , Comportamento Cooperativo , COVID-19/prevenção & controle , COVID-19/psicologia , Alemanha , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Hungria , Obrigações Morais , Pandemias/prevenção & controle , Política , Preconceito/psicologia , Preconceito/estatística & dados numéricos , Romênia , Estereotipagem , Estados Unidos , Vacinação/psicologia , Vacinação/estatística & dados numéricos , Recusa de Vacinação/psicologia , Recusa de Vacinação/estatística & dados numéricos
3.
Emerg Infect Dis ; 30(9): 1972-1974, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39174026

RESUMO

We report a case of autochthonous human babesiosis in Hungary, confirmed by PCR and partial sequencing of the Babesia spp. 18S rRNA gene. Babesiosis should be considered during the differential diagnosis of febrile illnesses, and peripheral blood smears to detect Babesia spp. should be part of the routine clinical workup.


Assuntos
Babesia , Babesiose , RNA Ribossômico 18S , Babesiose/diagnóstico , Babesiose/parasitologia , Humanos , Hungria , Babesia/genética , Babesia/isolamento & purificação , Babesia/classificação , RNA Ribossômico 18S/genética , Masculino , Filogenia , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase
4.
Mol Biol Evol ; 40(9)2023 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-37562011

RESUMO

In this study, we report 21 ancient shotgun genomes from present-day Western Hungary, from previously understudied Late Copper Age Baden, and Bronze Age Somogyvár-Vinkovci, Kisapostag, and Encrusted Pottery archeological cultures (3,530-1,620 cal Bce). Our results indicate the presence of high steppe ancestry in the Somogyvár-Vinkovci culture. They were then replaced by the Kisapostag group, who exhibit an outstandingly high (up to ∼47%) Mesolithic hunter-gatherer ancestry, despite this component being thought to be highly diluted by the time of the Early Bronze Age. The Kisapostag population contributed the genetic basis for the succeeding community of the Encrusted Pottery culture. We also found an elevated hunter-gatherer component in a local Baden culture-associated individual, but no connections were proven to the Bronze Age individuals. The hunter-gatherer ancestry in Kisapostag is likely derived from two main sources, one from a Funnelbeaker or Globular Amphora culture-related population and one from a previously unrecognized source in Eastern Europe. We show that this ancestry not only appeared in various groups in Bronze Age Central Europe but also made contributions to Baltic populations. The social structure of Kisapostag and Encrusted Pottery cultures is patrilocal, similarly to most contemporaneous groups. Furthermore, we developed new methods and method standards for computational analyses of ancient DNA, implemented to our newly developed and freely available bioinformatic package. By analyzing clinical traits, we found carriers of aneuploidy and inheritable genetic diseases. Finally, based on genetic and anthropological data, we present here the first female facial reconstruction from the Bronze Age Carpathian Basin.


Assuntos
Genoma Humano , Migração Humana , Humanos , História Antiga , Hungria , Europa (Continente) , DNA Antigo
5.
Hum Mol Genet ; 31(19): 3266-3280, 2022 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-35531973

RESUMO

Most of the early Hungarian tribes originated from the Volga-Kama and South-Ural regions, where they were composed of a mixed population based on historical, philological and archaeological data. We present here the uniparental genetic makeup of the mediaeval era of these regions that served as a melting pot for ethnic groups with different linguistic and historical backgrounds. Representing diverse cultural contexts, the new genetic data originate from ancient proto-Ob-Ugric people from Western Siberia (6th-13th century), the pre-Conquest period and subsisting Hungarians from the Volga-Ural region (6th-14th century) and their neighbours. By examining the eastern archaeology traits of Hungarian prehistory, we also study their genetic composition and origin in an interdisciplinary framework. We analyzed 110 deep-sequenced mitogenomes and 42 Y-chromosome haplotypes from 18 archaeological sites in Russia. The results support the studied groups' genetic relationships regardless of geographical distances, suggesting large-scale mobility. We detected long-lasting genetic connections between the sites representing the Kushnarenkovo and Chiyalik cultures and the Carpathian Basin Hungarians and confirmed the Uralic transmission of several East Eurasian uniparental lineages in their gene pool. Based on phylogenetics, we demonstrate and model the connections and splits of the studied Volga-Ural and conqueror groups. Early Hungarians and their alliances conquered the Carpathian Basin around 890 AD. Re-analysis of the Hungarian conquerors' maternal gene pool reveals numerous surviving maternal relationships in both sexes; therefore, we conclude that men and women came to the Carpathian Basin together, and although they were subsequently genetically fused into the local population, certain eastern lineages survived for centuries.


Assuntos
Etnicidade , Genética Populacional , Feminino , Haplótipos/genética , Humanos , Hungria , Masculino , Filogenia
6.
Genet Med ; 26(6): 101106, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38420906

RESUMO

PURPOSE: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs. METHODS: Patients underwent a comprehensive ophthalmological evaluation using standard-of-care tests, such as detailed retinal imaging (macular optical coherence tomography and short-wavelength fundus autofluorescence) and electrophysiological testing. Exome and genome sequencing, as well as computer-assisted data analysis were used for genotyping and detection of DNA variants. A minigene-driven splicing assay was performed to validate the deleterious effects of 1 of such variants. RESULTS: We identified 8 unrelated families from Hungary, the United States, Israel, and The Netherlands with members presenting with a form of autosomal recessive and nonsyndromic retinal degeneration, predominantly described as rod-cone dystrophy but also including cases of cone/cone-rod dystrophy. Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later. Myopia greater than 5 diopters was present in 5 of 7 cases with available refractive data, and retinal detachment was reported in 2 cases. All ascertained patients carried biallelic loss-of-function variants in UBAP1L (HGNC: 40028), a gene with unknown function and with homologies to UBAP1, encoding a protein involved in ubiquitin metabolism. One of these pathogenic variants, the intronic NM_001163692.2:c.910-7G>A substitution, was identified in 5 unrelated families. Minigene-driven splicing assays in HEK293T cells confirmed that this DNA change is responsible for the creation of a new acceptor splice site, resulting in aberrant splicing. CONCLUSION: We identified UBAP1L as a novel IRD gene. Although its function is currently unknown, UBAP1L is almost exclusively expressed in photoreceptors and the retinal pigment epithelium, hence possibly explaining the link between pathogenic variants in this gene and an ocular phenotype.


Assuntos
Linhagem , Degeneração Retiniana , Humanos , Masculino , Feminino , Adulto , Degeneração Retiniana/genética , Pessoa de Meia-Idade , Mutação com Perda de Função , Genes Recessivos , Criança , Adolescente , Distrofias de Cones e Bastonetes/genética , Hungria , Adulto Jovem , Predisposição Genética para Doença
7.
BMC Microbiol ; 24(1): 340, 2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39266945

RESUMO

BACKGROUND: Along bacteria, yeasts are common in forages and forage fermentations as spoilage microbes or as additives, yet few studies exist with species-level data on these fungi's occurrence in feedstuff. Active dry yeast and other yeast-based products are also common feed additives in animal husbandry. Here, we aimed to characterize both fermented and non-fermented milking cow feedstuff samples from Hungary to assess their microbial diversity in the first such study from Central Europe. RESULTS: We applied long-read bacterial metabarcoding to 10 fermented and 25 non-fermented types of samples to assess bacterial communities and their characteristics, surveyed culturable mold and yeast abundance, and identified culturable yeast species. Fermented forages showed the abundance of Aerococcaceae, Bacillaceae, Brucellaceae, Lactobacillaceae, Staphylococcaceae, and Thermoactinomycetaceae, non-fermented ones had Cyanothecaceae, Enterobacteriaceae, Erwiniaceae, Gomontiellaceae, Oxalobacteraceae, Rhodobiaceae, Rickettsiaceae, and Staphylococcaceae. Abundances of bacterial families showed mostly weak correlation with yeast CFU numbers, only Microcoleaceae (positive) and Enterococcaceae and Alcaligenaceae (negative correlation) showed moderate correlation. We identified 14 yeast species, most commonly Diutina rugosa, Pichia fermentans, P. kudriavzevii, and Wickerhahomyces anomalus. We recorded S. cerevisiae isolates only from animal feed mixes with added active dry yeast, while the species was completely absent from fermented forages. The S. cerevisiae isolates showed high genetic uniformity. CONCLUSION: Our results show that both fermented and non-fermented forages harbor diverse bacterial microbiota, with higher alpha diversity in the latter. The bacterial microbiome had an overall weak correlation with yeast abundance, but yeasts were present in the majority of the samples, including four new records for forages as a habitat for yeasts. Yeasts in forages mostly represented common species including opportunistic pathogens, along with a single strain of Saccharomyces used as a feed mix additive.


Assuntos
Ração Animal , Bactérias , Fermentação , Gado , Leveduras , Animais , Hungria , Leveduras/classificação , Leveduras/isolamento & purificação , Leveduras/genética , Bactérias/classificação , Bactérias/genética , Bactérias/isolamento & purificação , Ração Animal/microbiologia , Ração Animal/análise , Gado/microbiologia , Bovinos/microbiologia , Microbiota/genética , Biodiversidade
8.
BMC Microbiol ; 24(1): 325, 2024 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-39242991

RESUMO

PURPOSE: Invasive Listeria monocytogenes infection is rare, but can lead to life-threatening complications among high-risk patients. Our aim was to assess characteristics and follow-up of adults hospitalized with invasive L. monocytogenes infection. METHODS: A retrospective observational cohort study was conducted at a national referral center between 2004 and 2019. Patients with proven invasive listeriosis, defined by the European Centre for Disease Prevention and Control criteria, were included. Data collection and follow-up were performed using the hospital electronic system, up until the last documented visit. The primary outcome was in-hospital all-cause mortality, secondary outcomes included residual neurological symptoms, brain abscess occurrence, and requirement for intensive care unit (ICU) admission. RESULTS: Altogether, 63 cases were identified (57.1% male, median age 58.8 ± 21.7 years), and 28/63 developed a complicated disease course (44.4%). At diagnosis, 38/63 (60.3%) presented with sepsis, 54/63 (85.7%) had central nervous system involvement, while 9/63 (14.3%) presented with isolated bacteremia. Frequent clinical symptoms included fever (53/63, 84.1%), altered mental state (49/63, 77.8%), with immunocompromised conditions apparent in 56/63 (88.9%). L. monocytogenes was isolated from blood (37/54, 68.5%) and cerebrospinal fluid (48/55, 87.3%), showing in vitro full susceptibility to ampicillin and meropenem (100% each), gentamicin (86.0%) and trimethoprim/sulfamethoxazole (97.7%). In-hospital all-cause mortality was 17/63 (27.0%), and ICU admission was required in 28/63 (44.4%). At discharge, residual neurological deficits (11/46, 23.9%) and brain abscess formation (6/46, 13.0%) were common. CONCLUSION: Among hospitalized adult patients with comorbidities, invasive L. monocytogenes infections are associated with high mortality and neurological complications during follow-up.


Assuntos
Hospitalização , Listeria monocytogenes , Listeriose , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Listeriose/mortalidade , Listeriose/microbiologia , Listeriose/epidemiologia , Listeriose/tratamento farmacológico , Listeria monocytogenes/patogenicidade , Listeria monocytogenes/isolamento & purificação , Listeria monocytogenes/efeitos dos fármacos , Estudos Retrospectivos , Idoso , Hungria/epidemiologia , Adulto , Hospitalização/estatística & dados numéricos , Seguimentos , Antibacterianos/uso terapêutico , Antibacterianos/farmacologia , Unidades de Terapia Intensiva/estatística & dados numéricos , Bacteriemia/microbiologia , Bacteriemia/mortalidade , Bacteriemia/epidemiologia , Bacteriemia/tratamento farmacológico , Idoso de 80 Anos ou mais , Sepse/microbiologia , Sepse/mortalidade , Sepse/epidemiologia , Sepse/tratamento farmacológico , Mortalidade Hospitalar
9.
Gynecol Oncol ; 186: 35-41, 2024 07.
Artigo em Inglês | MEDLINE | ID: mdl-38569327

RESUMO

OBJECTIVE: Fertility-sparing surgery (FSS) aims to achieve oncological outcomes that are non-inferior to radical treatment while preserving fertility and optimizing reproductive results. This study assesses in vitro fertilization (IVF) outcomes in early-stage cervical cancer survivors following FSS, comparing radical and non-radical approaches. METHODS: This retrospective analysis used data from Hungary's National Health Insurance Fund (2004-2022) on patients who underwent IVF treatment following FSS for early-stage cervical cancer at ten Hungarian fertility clinics. Patients were classified into radical and non-radical surgical groups, with the uterine arteries being spared in the non-radical procedures. RStudio (R software version: 4.2.2) was used for statistical analysis. Student's t-test was used to compare group means, and Fisher's exact test was applied to assess independence and distributions between categorical variables, and to estimate odds. RESULTS: The study analyzed data from 122 IVF treatment cycles involving 36 patients. The non-radical group had a significantly higher live birth rate (83%, 5/6 compared to the radical group (17%, 5/30). Additionally, the non-radical group had a significantly higher implantation rate and cumulative live birth rate per oocyte retrieval (37%, 7/19 and 55%, 6/11 respectively) compared to the radical group (8%, 12/148 and 6%, 5/80 respectively). CONCLUSION: This is the largest study to evaluate IVF outcomes in young cervical cancer survivors who have undergone FSS. The findings suggest that less radical procedures are associated with significantly better IVF outcomes. These results emphasize the importance of considering oncological safety and reproductive outcomes together when choosing FSS for early-stage cervical cancer patients. It also highlights the reproductive benefits of performing less radical surgery.


Assuntos
Preservação da Fertilidade , Fertilização in vitro , Neoplasias do Colo do Útero , Humanos , Feminino , Neoplasias do Colo do Útero/cirurgia , Neoplasias do Colo do Útero/patologia , Estudos Retrospectivos , Adulto , Preservação da Fertilidade/métodos , Preservação da Fertilidade/estatística & dados numéricos , Gravidez , Fertilização in vitro/métodos , Estadiamento de Neoplasias , Hungria , Tratamentos com Preservação do Órgão/métodos , Tratamentos com Preservação do Órgão/estatística & dados numéricos
10.
Value Health ; 27(7): 943-954, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38599517

RESUMO

OBJECTIVES: We aimed to assess the psychometric performance and added value of 9 existing bolt-ons (breathing problems, cognition, hearing, self-confidence, skin irritation, sleep, social relationships, tiredness, and vision) for the EQ-5D-5L in a general population sample. METHODS: The EQ-5D-5L, 9 bolt-ons, SF-6Dv1, Patient-Reported Outcomes Measurement Information System (PROMIS)-29+2, PROMIS Global Health, and Satisfaction with Life Scale were completed in an online cross-sectional survey among a general adult population sample in Hungary (n = 1587). The following psychometric properties were tested for the EQ-5D-5L + bolt-on(s): ceiling, divergent and convergent validity, structural validity, known-group validity, and explanatory power. RESULTS: Adding sleep (30%), tiredness (24%), or vision (21%) substantially reduced the ceiling of the EQ-5D-5L (41%). Cognition, sleep, social relationships, and tiredness correlated with corresponding PROMIS and SF-6D items (rs = ǀ0.32ǀ - ǀ0.73ǀ). All bolt-ons, except cognition and self-confidence, loaded on a different factor from the EQ-5D-5L dimensions. Breathing, hearing, skin irritation, and vision significantly improved known-group validity in relevant health condition groups. The sleep bolt-on improved known-group validity in 9 of 13 chronic health conditions. Tiredness had the largest impact on explaining EQ VAS score variance in 8 of 13 conditions. Hearing and vision improved the ability of the EQ-5D-5L to capture declining health with age, whereas self-confidence and social relationships were valuable for mental health assessment. CONCLUSIONS: This study established the validity of multiple bolt-ons for the EQ-5D-5L and highlights the usefulness of including relevant bolt-ons in population-based and patient surveys. Our findings inform the further development of these bolt-ons and the bolt-on item selection for clinical studies.


Assuntos
Psicometria , Qualidade de Vida , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Estudos Transversais , Adulto , Hungria , Inquéritos e Questionários , Idoso , Reprodutibilidade dos Testes , Nível de Saúde , Adulto Jovem , Adolescente , Medidas de Resultados Relatados pelo Paciente
11.
Value Health ; 27(7): 837-847, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38641059

RESUMO

OBJECTIVES: This study aimed to provide subjective well-being (SWB) population norms in Hungary and explore the contribution of explanatory factors of SWB inequality among the Hungarian adult general population. METHODS: The data originated from a large representative internet-based cross-sectional survey in Hungary, which was conducted in 2020. We applied validated multi-item instruments for measuring SWB, namely Satisfaction With Life Scale (SWLS) and World Health Organization-Five Well-Being Index (WHO-5). Multiple linear regressions were used to examine the relationship between demographic-socioeconomic-health status and both well-being instruments. The concentration index (CI) was used to measure the degree of income-related inequality in well-being. RESULTS: A total of 2001 respondents were enrolled with the means ± SD WHO-5 scores and SWLS scores of 0.51 ± 0.21 and 0.51 ± 0.23, respectively. Higher household income, higher educational level, better general health status, and absence of chronic morbidity were significant positive predictors for both WHO-5 and SWLS scores. The CI of WHO-5 scores was lower than that of SWLS scores in the total sample (0.0480 vs 0.0861) and in subgroups by gender (male, 0.0584 vs 0.1035; female, 0.0302 vs 0.0726). The positive CI values implied a slight pro-rich SWB inequality in this population. The regression analyses showed a positive association of SWB with having a higher household income and a better general health status. CONCLUSIONS: This is the first representative study in Hungary to compare population norm of 2 well-being instruments and analyze well-being inequality. Slight pro-rich inequality was found consistently with both SWB measures. Our findings support the need for health and social policies that effectively tackle inequalities in Hungary.


Assuntos
Internet , Qualidade de Vida , Fatores Socioeconômicos , Humanos , Hungria , Estudos Transversais , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Satisfação Pessoal , Adulto Jovem , Nível de Saúde , Idoso , Disparidades nos Níveis de Saúde , Inquéritos e Questionários , Adolescente , Renda
12.
Arch Virol ; 169(5): 100, 2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38630394

RESUMO

In this study, a novel genotype of genogroup X (GX) sapovirus (family Caliciviridae) was detected in the small intestinal contents of a golden jackal (Canis aureus) in Hungary and characterised by viral metagenomics and next-generation sequencing techniques. The complete genome of the detected strain, GX/Dömsöd/DOCA-11/2020/HUN (PP105600), is 7,128 nt in length. The ORF1- and ORF2-encoded viral proteins (NSP, VP1, and VP2) have 98%, 95%, and 88% amino acid sequence identity to the corresponding proteins of genogroup GX sapoviruses from domestic pigs, but the nucleic acid sequence identity values for their genes are significantly lower (83%, 77%, and 68%). During an RT-PCR-based epidemiological investigation of additional jackal and swine samples, no other GX strains were detected, but a GXI sapovirus strain, GXI/Tótfalu/WBTF-10/2012/HUN (PP105601), was identified in a faecal sample from a wild boar (Sus scrofa). We report the detection of members of two likely underdiagnosed groups of sapoviruses (GX and GXI) in a golden jackal and, serendipitously, in a wild boar in Europe.


Assuntos
Caliciviridae , Canidae , Sapovirus , Animais , Suínos , Sapovirus/genética , Chacais , Hungria/epidemiologia , Genótipo , Sus scrofa
13.
Arch Virol ; 169(3): 59, 2024 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-38430421

RESUMO

Human orf disease (called ecthyma contagiosum or contagious/infectious pustular dermatitis in animals) was confirmed on the fingers of both hands of a 24-year-old female, after feeding diseased lambs with a nursing bottle in April 2023. In addition to skin symptoms, she had low-grade fever (37.6°C) and swollen lymph nodes in both axilla. The presence of orf virus (genus Parapoxvirus, family Poxviridae) was confirmed, and this strain, Baja/2023/HUN (OR372161-OR372163), was found to have > 98% nucleotide sequence identity to sheep-origin orf viruses in four tested genome regions (ORF011/B2L, ORF019, ORF020/VIR, and ORF056). This is the first report of a human case of infection with the neglected zoonotic orf virus in Hungary.


Assuntos
Ectima Contagioso , Vírus do Orf , Poxviridae , Feminino , Humanos , Animais , Ovinos , Adulto Jovem , Adulto , Vírus do Orf/genética , Hungria , Ectima Contagioso/epidemiologia , Poxviridae/genética , DNA Viral/genética
14.
Acta Oncol ; 63: 433-440, 2024 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-38881341

RESUMO

Recent developments in molecular genetic testing methods (e.g. next-generation sequencing [NGS]-panels) largely accelerated the process of finding the most appropriate targeted therapeutic intervention for cancer patients based on molecularly targetable genetic alterations. In Hungary, a centralized approval system following the recommendation of the National Molecular Tumor Board was launched for the coordination of all aspects of comprehensive genetic profiling (CGP) including patient selection and therapy reimbursement. AIM: The study aims to evaluate the clinical benefit of CGP in our Comprehensive Cancer Center Methods and patients: CGP was introduced into our routine clinical practice in 2021. An NGS-based large (> 500 genes) gene panel was used for cases where molecular genetic testing was approved by the National Molecular Tumor Board. From 2021 until August 2023 163 cases were tested. The majority of them were ECOG 0-1 patients with advanced-stage diseases, histologically rare cancer, or cancers with unknown primary tumours. RESULTS: Seventy-four cases (74 of 163, 45%) had clinically relevant genetic alterations. In 34 patients, the identified variants represented an indication for an approved therapy (approved by the Hungarian authorities, on-label indication), while in 40 cases the recommended therapy did not have an approved indication in Hungary for certain tumour types, but off-label indication could be recommended. Based on our CGP results, 24 patients (24/163; 14.7%) received targeted therapy. Treatment duration was between 1 and 60 months. In total 14 (14/163; 8.5% of the tested cases) patients had a positive clinical response (objective response or stable disease) and were treated for more than 16 weeks. INTERPRETATION: NGS-based CGP was successfully introduced in our institution and a significant number of patients benefited from comprehensive genetic tests. Our preliminary results can serve as the starting point of Drug Rediscovery Protocol (DRUP) studies.


Assuntos
Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Neoplasias , Medicina de Precisão , Humanos , Hungria , Medicina de Precisão/métodos , Neoplasias/genética , Neoplasias/tratamento farmacológico , Neoplasias/terapia , Masculino , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Pessoa de Meia-Idade , Idoso , Adulto , Testes Genéticos/métodos , Idoso de 80 Anos ou mais , Adulto Jovem , Adolescente , Terapia de Alvo Molecular/métodos , Biomarcadores Tumorais/genética
15.
Pacing Clin Electrophysiol ; 47(7): 893-901, 2024 07.
Artigo em Inglês | MEDLINE | ID: mdl-38884620

RESUMO

BACKGROUND: To preserve the benefit of atrial sensing without the implantation of an additional lead, a single-lead ICD system with a floating atrial dipole (DX ICD) has been developed. The purpose of this nationwide survey was to provide an overview of the current key influences of device selection focusing on DX ICD and to test the applicability of a previously published decision-making flowchart of ICD-type selection. METHODS: An online questionnaire was sent to all implanting centers in Hungary. Eleven centers reported data from 361 DX ICD and 10 CRT-DX systems implantations between February 2021 and May 2023. RESULTS: The most important influencing clinical factors indicated by the participating doctors were elevated risk of atrial fibrillation (AF)/stroke (56%), risk of sinus/supraventricular tachycardias (SVT) (42%), and a potential need for CRT upgrade in the future (36%). The DX ICD was considered in the majority of cases instead of the VVI system (87%), and only in a small proportion instead of a DDD ICD (13%). 60% of the patients with DX ICDs were also included into remote monitoring-based follow-up. In 83% of the cases, good (>2 mV) or excellent (>5) atrial signal amplitude was recorded within 6 weeks after the implantation. CONCLUSION: In the current national survey, the most important influencing factors indicated by the implanters for selecting a DX ICD were the elevated risk of stroke or sinus/SVT and a potential need for CRT upgrade in the future. These findings support the use of a previously published decision-making flowchart.


Assuntos
Desfibriladores Implantáveis , Humanos , Estudos Prospectivos , Inquéritos e Questionários , Masculino , Feminino , Hungria , Fibrilação Atrial , Idoso , Pessoa de Meia-Idade
16.
Pediatr Nephrol ; 39(8): 2475-2481, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38536515

RESUMO

BACKGROUND: Neonatal hypertension is common in preterm infants with bronchopulmonary dysplasia (BPD). Our study aimed to examine blood pressure variation in the first three months of life in preterm BPD patients. METHODS: We conducted a retrospective, single-centre study at the Neonatal Intensive Care Unit of the University of Szeged, Hungary. We collected blood pressure data from 26 preterm infants (born at < 30 weeks gestation) with moderate or severe BPD over three years (2019-2021). We calculated the BPD group's daily average blood pressure values and used previously defined normal blood pressure values from a preterm patient group born at < 30 weeks gestation as a reference. We used 19,481 systolic, diastolic and mean blood pressure measurement data separately to calculate daily average blood pressures. RESULTS: We found a statistically significant correlation between the blood pressure values of the BPD patient group and the reference data. The difference between the blood pressure curve of the group with BPD and that of the reference group was also statistically significant. We also analysed individual patients' daily average blood pressure values and found that 11 patients (42%) had hypertensive blood pressure values for three or more days within the first 90 days of life. Within this group, our statistical analysis showed a 25% chance of acute kidney injury. CONCLUSION: The blood pressure of the BPD group not only correlated with but also significantly differed from the reference data. Hypertension lasting three or more days occurred more frequently in patients with acute kidney injury accompanied by BPD.


Assuntos
Pressão Sanguínea , Displasia Broncopulmonar , Recém-Nascido Prematuro , Humanos , Displasia Broncopulmonar/fisiopatologia , Displasia Broncopulmonar/complicações , Displasia Broncopulmonar/diagnóstico , Estudos Retrospectivos , Recém-Nascido , Feminino , Masculino , Pressão Sanguínea/fisiologia , Lactente , Hungria/epidemiologia , Hipertensão/fisiopatologia , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Idade Gestacional , Determinação da Pressão Arterial/métodos
17.
Qual Life Res ; 33(1): 87-99, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37707653

RESUMO

OBJECTIVES: 15D is a generic preference-accompanied health status measure covering a wide range of health areas, including sensory functions. The aim of this study was to establish population norms for the 15D instrument in Hungary. METHODS: 2000 members of the Hungarian adult general population participated in an online cross-sectional survey in August 2021. The sample was broadly representative in terms of gender, age groups, highest level of education, geographical region, and settlement type. Index values were derived using the Norwegian 15D value set. In addition to providing population norms, mean index values were computed for 32 physical and 24 mental health condition groups. RESULTS: Most respondents (78.7%) reported problems in at least one 15D domain. The most problems were reported with sleeping (50.7%), followed by vitality (49.2%), distress (43.6%), discomfort and symptoms (31.2%), depression (31.1%), sexual activities (29.6%), breathing (28.1%), and vision (27.8%). The mean 15D index value was 0.810. With advancing age categories, the 15D index values showed an inverse U-shaped curve. Generally, mean index values in respondents with mental health conditions were lower [range 0.299 (post-traumatic stress disorder) to 0.757 (smoking addiction)] than those of respondents with physical conditions [range 0.557 (liver cirrhosis) to 0.764 (allergies)]. CONCLUSIONS: This study provided 15D population norms of the Hungarian general population; furthermore, this is the first study to provide population norms for the 15D in any country. The values established in this study can serve as benchmarks for evaluating efficacy outcomes in clinical trials, quantifying disease burden and identifying unmet needs.


Assuntos
Nível de Saúde , Qualidade de Vida , Adulto , Humanos , Qualidade de Vida/psicologia , Hungria , Estudos Transversais , Inquéritos e Questionários
18.
Qual Life Res ; 33(9): 2417-2428, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38839684

RESUMO

PURPOSE: Although population norms of the EQ-5D-3L instrument had been available in Hungary since 2000, their evaluation was based on a United Kingdom (UK) value set. Our objective was to estimate the population norms for EQ-5D-3L by using the new Hungarian value set available since 2020, to extend the scope to adolescents, and to compare with norms from 2000. METHODS: A cross sectional EQ-5D-3L survey representative of the Hungarian population was conducted in 2022. The EQ-5D-3L dimensional responses were analyzed by age and sex and compared with the survey from 2000, by estimating population frequencies with their 95% confidence intervals; index values were evaluated by both value sets. RESULTS: Altogether, 11,910 respondents, aged 12 or more (578 between 12 and 17), completed the EQ-5D-3L. There was a notable improvement in reporting problems for both sexes (age 35-64) regarding the pain/discomfort and anxiety/depression compared to 2000. Below the age 44, both sexes had an EQ-5D-3L index plateau of 0.98, while above the age 55, men tended to have numerically higher index values compared to women, with the difference increasing with older age. Improvement in dimensional responses were also translated to numerically higher index values for both sexes between ages 18 and 74 compared to 2000. Multivariate regression analysis showed that higher educational attainment, lower age, larger household size, and active occupational status were associated with higher index values. CONCLUSION: Over the past 22 years, there was a large improvement in HRQoL of the middle-aged to elderly men and women in Hungary.


Health states can be described by a combination of statements of health-related quality of life measures. 'Value sets' are numerical expressions of how preferred a health state is. The provision of population-level health-related quality of life estimates (also known as 'population norms') are expected to improve the precision of patient-level clinical decision making, and health economic and public health studies. However, preference towards these health states is influenced by culture, resulting in differences across populations. While responses for the EQ-5D-3L instrument for adults have been available in Hungary since 2000, the evaluation of these responses was based on a 'value set' from the United Kingdom, rather than a Hungarian one.This research, utilizing the newly introduced Hungarian 'value set' (available since 2020) for the EQ-5D-3L instrument, offers a larger sample size, inclusion of adolescents and potentially improved sampling compared to the prior research conducted in 2000. Comparison of the two surveys allows us to estimate changes in both dimensional responses and overall health-related quality of life of the population over a 20-year time horizon, while we also compare the impact of different 'value sets' on health-related quality of life assessment. A large EQ-5D-3L improvement was observed in middle-aged-to-elderly people.


Assuntos
Qualidade de Vida , Humanos , Hungria , Masculino , Feminino , Adolescente , Pessoa de Meia-Idade , Adulto , Estudos Transversais , Adulto Jovem , Inquéritos e Questionários , Idoso , Criança , Valores de Referência , Nível de Saúde
19.
BMC Pregnancy Childbirth ; 24(1): 473, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-38992633

RESUMO

BACKGROUND: We assessed the effect of different obstetric interventions and types of delivery on breastfeeding. METHODS: A quantitative, cross-sectional study was carried out using an online questionnaire. Data collection was performed in 2021 in Hungary. We included biological mothers who had raised their at least 5-year-old child(ren) at home (N = 2,008). The questionnaire was completed anonymously and voluntarily. In addition to sociodemographic data (age, residence, marital status, education, occupation, income status, number of biological children, and anthropometric questions about the child and the mother), we asked about the interventions used during childbirth, and the different ways of infant feeding used. Statistical analysis was carried out using Microsoft Excel 365 and SPSS 25.0. Descriptive statistics, two-sample t tests, χ2 tests and ANOVA were used to analyse the relationship or differences between the variables (p < 0,05). RESULTS: We found that in deliveries where synthetic oxytocin was used for both induction and acceleration, there was a higher incidence of emergency cesarean section. However, the occurrence of vaginal deliveries was significantly higher in cases where oxytocin administration was solely for the purpose of accelerating labour (p < 0.001).Mothers who received synthetic oxytocin also received analgesics (p < 0.001). Women giving birth naturally who used oxytocin had a lower success of breastfeeding their newborn in the delivery room (p < 0.001). Children of mothers who received obstetric analgesia had a higher rate of complementary formula feeding (p < 0.001). Newborns born naturally had a higher rate of breastfeeding in the delivery room (p < 0.001) and less formula feeding in the hospital (p < 0.001). Infants who were breastfed in the delivery room were breastfed for longer periods (p < 0.001). Exclusive breastfeeding up to six months was longer for infants born naturally (p = 0.005), but there was no difference in the length of breastfeeding (p = 0.081). CONCLUSIONS: Obstetric interventions may increase the need for further interventions and have a negative impact on early or successful breastfeeding. TRIAL REGISTRATION: Not relevant.


Assuntos
Aleitamento Materno , Cesárea , Parto Obstétrico , Humanos , Aleitamento Materno/estatística & dados numéricos , Feminino , Estudos Transversais , Hungria , Adulto , Parto Obstétrico/estatística & dados numéricos , Parto Obstétrico/métodos , Gravidez , Cesárea/estatística & dados numéricos , Inquéritos e Questionários , Ocitocina/administração & dosagem , Recém-Nascido , Adulto Jovem , Ocitócicos/administração & dosagem , Ocitócicos/uso terapêutico , Mães/estatística & dados numéricos
20.
Neurol Sci ; 45(6): 2671-2679, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38153678

RESUMO

INTRODUCTION: Parkinson's disease (PD) has a complex genetic background involving both rare and common genetic variants. Although a small percentage of cases show a clear Mendelian inheritance pattern, it is much more relevant to identify patients who present with a complex genetic profile of risk variants with different severity. The ß-glucocerebrosidase coding gene (GBA1) is recognized as the most frequent genetic risk factor for PD and Lewy body dementia, irrespective of reduction of the enzyme activity due to genetic variants. METHODS: In a selected cohort of 190 Hungarian patients with clinical signs of PD and suspected genetic risk, we performed the genetic testing of the GBA1 gene. As other genetic hits can modify clinical features, we also screened for additional rare variants in other neurodegenerative genes and assessed the APOE-ε genotype of the patients. RESULTS: In our cohort, we identified 29 GBA1 rare variant (RV) carriers. Out of the six different detected RVs, the highly debated E365K and T408M variants are composed of the majority of them (22 out of 32). Three patients carried two GBA1 variants, and an additional three patients carried rare variants in other neurodegenerative genes (SMPD1, SPG11, and SNCA). We did not observe differences in age at onset or other clinical features of the patients carrying two GBA1 variants or patients carrying heterozygous APOE-ε4 allele. CONCLUSION: We need further studies to better understand the drivers of clinical differences in these patients, as this could have important therapeutic implications.


Assuntos
Glucosilceramidase , Doença de Parkinson , Humanos , Glucosilceramidase/genética , Doença de Parkinson/genética , Hungria , Masculino , Feminino , Idoso , Pessoa de Meia-Idade , Estudos de Coortes , Predisposição Genética para Doença/genética , Idoso de 80 Anos ou mais
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