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1.
Am J Hum Genet ; 110(4): 648-662, 2023 04 06.
Artículo en Inglés | MEDLINE | ID: mdl-36977412

RESUMEN

Several breast cancer susceptibility genes have been discovered, but more are likely to exist. To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. We identified a rare mutation in ATRIP (GenBank: NM_130384.3: c.1152_1155del [p.Gly385Ter]) in two women with breast cancer. At the validation phase, we found this variant in 42/16,085 unselected Polish breast cancer-affected individuals and in 11/9,285 control subjects (OR = 2.14, 95% CI = 1.13-4.28, p = 0.02). By analyzing the sequence data of the UK Biobank study participants (450,000 individuals), we identified ATRIP loss-of-function variants among 13/15,643 breast cancer-affected individuals versus 40/157,943 control subjects (OR = 3.28, 95% CI = 1.76-6.14, p < 0.001). Immunohistochemistry and functional studies showed the ATRIP c.1152_1155del variant allele is weakly expressed compared to the wild-type allele, and truncated ATRIP fails to perform its normal function to prevent replicative stress. We showed that tumors of women with breast cancer who have a germline ATRIP mutation have loss of heterozygosity at the site of ATRIP mutation and genomic homologous recombination deficiency. ATRIP is a critical partner of ATR that binds to RPA coating single-stranded DNA at sites of stalled DNA replication forks. Proper activation of ATR-ATRIP elicits a DNA damage checkpoint crucial in regulating cellular responses to DNA replication stress. Based on our observations, we conclude ATRIP is a breast cancer susceptibility gene candidate linking DNA replication stress to breast cancer.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales , Neoplasias de la Mama , Proteínas de Unión al ADN , Femenino , Humanos , Proteínas Adaptadoras Transductoras de Señales/genética , Bancos de Muestras Biológicas , Neoplasias de la Mama/genética , Proteínas de Ciclo Celular/genética , Daño del ADN , Proteínas de Unión al ADN/genética , Polonia/epidemiología , Proteína de Replicación A/genética , Proteína de Replicación A/metabolismo , Reino Unido/epidemiología
2.
BMC Genomics ; 25(1): 78, 2024 Jan 19.
Artículo en Inglés | MEDLINE | ID: mdl-38243199

RESUMEN

BACKGROUND: Local adaptation is a key evolutionary process that enhances the growth of plants in their native habitat compared to non-native habitats, resulting in patterns of adaptive genetic variation across the entire geographic range of the species. The study of population adaptation to local environments and predicting their response to future climate change is important because of climate change. RESULTS: Here, we explored the genetic diversity of candidate genes associated with bud burst in pedunculate oak individuals sampled from 6 populations in Poland. Single nucleotide polymorphism (SNP) diversity was assessed in 720 candidate genes using the sequence capture technique, yielding 18,799 SNPs. Using landscape genomic approaches, we identified 8 FST outliers and 781 unique SNPs in 389 genes associated with geography, climate, and phenotypic variables (individual/family spring and autumn phenology, family diameter at breast height (DBH), height, and survival) that are potentially involved in local adaptation. Then, using a nonlinear multivariate model, Gradient Forests, we identified vulnerable areas of the pedunculate oak distribution in Poland that are at risk from climate change. CONCLUSIONS: The model revealed that pedunculate oak populations in the eastern part of the analyzed geographical region are the most sensitive to climate change. Our results might offer an initial evaluation of a potential management strategy for preserving the genetic diversity of pedunculate oak.


Asunto(s)
Quercus , Humanos , Quercus/genética , Evolución Biológica , Genómica , Bosques , Polonia , Adaptación Fisiológica/genética
3.
Ann Hum Genet ; 88(2): 154-170, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-37942942

RESUMEN

BACKGROUD: Tripartite motif containing 5α protein is a factor contributing to intracellular defense mechanisms against human immunodeficiency virus-1 (HIV-1) infection. The studies of TRIM5 variants effects on the risk of HIV-1 infection and the clinical course of disease provided inconclusive results in different ethnic groups. The aim of this study was to investigate the influence of TRIM5 variants on susceptibility to HIV-1 infection and clinical parameters among Polish HIV-1-infected patients. MATERIALS & METHODS: In our study, we investigated 301 HIV-1-infected patients and 186 age-matched seronegative controls. Seven variants of the TRIM5 gene (rs7127617, rs3824949, rs3740996, rs11601507, rs10838525, rs11038628, and rs28381981) were genotyped using both sequencing and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques. RESULTS AND CONCLUSIONS: The frequencies of rs7127617 TT genotype and T allele occurrence were lower in HIV-1-infected subjects compared to controls (0.14 vs. 0.26 for T/T genotype and 0.45 vs. 0.54 for T allele), suggesting their possible protective effect (p = 0.005 and p = 0.007, respectively). Heterozygosity and presence of the T allele at rs3740996 were enriched in controls compared to HIV-1-infected group (0.19 vs. 0.12 for C/T genotype and 0.11 vs. 0.07 for T allele; p = 0.03 and p = 0.02, respectively). Moreover, rs3824949 CC genotype carriers had a lower viral load than patients bearing rs3824949 GG/CG genotypes (4.0 vs. 4.6 log copies/mL; p = 0.049); however, none of the variants affected CD4+ cell count. In conclusion, our data confirm the role of TRIM5 variants in the HIV-1 transmission and the clinical course of HIV-1 infection. The presence of rs7127617 TT genotype and T allele seems to protect against HIV-1 transmission in examined population.


Asunto(s)
Infecciones por VIH , VIH-1 , Humanos , Predisposición Genética a la Enfermedad , Polonia , Ubiquitina-Proteína Ligasas/genética , Infecciones por VIH/genética , Genotipo , Proteínas de Motivos Tripartitos/genética , Progresión de la Enfermedad , Polimorfismo de Nucleótido Simple , Frecuencia de los Genes , Factores de Restricción Antivirales
4.
Oncologist ; 29(7): e887-e898, 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38666716

RESUMEN

BACKGROUND: Although biobanks have become fundamental to many research centers and contribute to medical development, they generate many ethical and legal issues that may discourage patients from donating. MATERIALS AND METHODS: To understand patients' perception of ethical and legal issues related to biobanks we conducted a survey among 548 Polish patients with cancer. RESULTS: While 93.1% of patients with cancer declared themselves willing to donate biospecimens left over after a medical procedure to a biobank, most opted for one-time consent or study-specific consent, blanket consent being less frequently preferred. Many patients believed that future use of previously collected tissues require second contact. Most patients preferred pseudonymization over anonymization of the data, and supported donors' right to withdraw informed consent at any given moment. Finally, while personal health information was the most expected form of compensation for donation, most patients suggested that all parties, including the biobank concerned, the sponsors of the research, and the donors, should own the rights to cancer tissues donated and profit from the biobank research. Patients' opinions on the ethical and legal issues related to biobank research were associated with age, sex, religiosity, education level, and place of residence. CONCLUSIONS: Since biobanks generate ethical and legal issues related to informed consent, data protection and storage, as well as the sharing of biosamples, tissue ownership, and profit sharing, that may discourage patients from donation, when asking a patient for a donation, healthcare professionals should communicate in a donor-centered manner and address patients' ethical and moral concerns related to donation and offer resources to help manage these concerns.


Asunto(s)
Bancos de Muestras Biológicas , Consentimiento Informado , Neoplasias , Humanos , Masculino , Femenino , Polonia , Neoplasias/psicología , Neoplasias/terapia , Persona de Mediana Edad , Bancos de Muestras Biológicas/ética , Bancos de Muestras Biológicas/legislación & jurisprudencia , Consentimiento Informado/legislación & jurisprudencia , Consentimiento Informado/ética , Adulto , Anciano , Encuestas y Cuestionarios , Percepción , Investigación Biomédica/ética , Investigación Biomédica/legislación & jurisprudencia , Obtención de Tejidos y Órganos/ética , Obtención de Tejidos y Órganos/legislación & jurisprudencia , Donantes de Tejidos/psicología , Donantes de Tejidos/ética
5.
Development ; 148(19)2021 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-34568895

RESUMEN

Tom Nowakowski is an Assistant Professor at University of California San Francisco (UCSF), where he uses single-cell sequencing technologies to study neurodevelopment. He is also a Chan Zuckerberg Biohub Investigator and a Next Generation Leader at the Allen Institute for Brain Science. We met with Tom over Zoom to hear more about his career, his transition to becoming a group leader and his plans for the future.


Asunto(s)
Biología Evolutiva/historia , Genética/historia , Historia del Siglo XXI , Polonia , Estados Unidos
6.
BMC Plant Biol ; 24(1): 186, 2024 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-38481155

RESUMEN

BACKGROUND: Knowledge of genetic structure and the factors that shape it has an impact on forest management practices. European ash (Fraxinus excelsior L.) has declined dramatically throughout its range as a result of a disease caused by the fungus Hymenoscyphus fraxineus. Despite the need for conservation and restoration of the species, genetic data required to guide these efforts at the country level are scarce. Thereofore, we studied the chloroplast and nuclear genetic diversity of 26 natural common ash populations (1269 trees) in Poland. RESULTS: Chloroplast polymorphisms grouped the populations into two geographically structured phylogenetic lineages ascribed to different glacial refugia (the Balkans and the Eastern Alps). However, the populations demonstrated high genetic diversity (mean AR = 12.35; mean Ho = 0.769; mean He = 0.542) but low differentiation based on nuclear microsatellites (FST = 0.045). Significant spatial genetic structure, consistent with models of isolation by distance, was detected in 14 out of 23 populations. Estimated effective population size was moderate-to-high, with a harmonic mean of 57.5 individuals per population. CONCLUSIONS: Genetic diversity was not homogeneously distributed among populations within phylogenetic gene pools, indicating that ash populations are not equal as potential sources of reproductive material. Genetic differences among populations could be related to their histories, including founder effects or gene flow between evolutionary lineages (admixture). Our results suggest that ash stands across Poland could be treated as two main management units (seed zones). Therefore, despite the homogenizing effect of pollen gene flow known for this species, the genetic structure should be taken into account in the management of the genetic resources of the common ash. Although ash dieback poses an additional challenge for the management of genetic resources, efforts should be directed towards protecting populations with high genetic diversity within defined phylogenetic units, as they may be an important source of adaptive variation for future stands.


Asunto(s)
Ascomicetos , Fraxinus , Humanos , Fraxinus/genética , Fraxinus/microbiología , Polonia , Filogenia , Bosques , Variación Genética
7.
Blood Cells Mol Dis ; 107: 102841, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38581917

RESUMEN

Pyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of suboptimal activity, and the c.101-1G > A variant gives alternatively spliced mRNA carrying a premature stop codon, encoding a severely truncated PK and likely undergoing nonsense-mediated decay.


Asunto(s)
Anemia Hemolítica Congénita no Esferocítica , Mutación , Piruvato Quinasa , Errores Innatos del Metabolismo del Piruvato , Humanos , Piruvato Quinasa/genética , Piruvato Quinasa/deficiencia , Polonia , Errores Innatos del Metabolismo del Piruvato/genética , Masculino , Femenino , Anemia Hemolítica Congénita no Esferocítica/genética , Niño , Preescolar , Modelos Moleculares , Lactante , Adolescente , Codón sin Sentido , Empalme Alternativo
8.
J Antimicrob Chemother ; 79(5): 1030-1037, 2024 05 02.
Artículo en Inglés | MEDLINE | ID: mdl-38488311

RESUMEN

OBJECTIVES: To characterize VIM-type metallo-ß-lactamase (MBL)-encoding genomic islands (GIs) in Pseudomonas aeruginosa and P. putida group isolates from Polish hospitals from 2001-2015/16. METHODS: Twelve P. aeruginosa and 20 P. putida group isolates producing VIM-like MBLs were selected from a large collection of these based on epidemiological and typing data. The organisms represented all major epidemic genotypes of these species spread in Poland with chromosomally located blaVIM gene-carrying integrons. The previously determined short-read sequences were complemented by long-read sequencing in this study. The comparative structural analysis of the GIs used a variety of bioinformatic tools. RESULTS: Thirty different GIs with blaVIM integrons were identified in the 32 isolates, of which 24 GIs from 26 isolates were integrative and conjugative elements (ICEs) of the clc family. These in turn were dominated by 21 variants of the GI2/ICE6441 subfamily with a total of 19 VIM integrons, each inserted in the same position within the ICE's Tn21-like transposon Tn4380. The three other ICEs formed a novel ICE6705 subfamily, lacking Tn4380 and having different VIM integrons located in another site of the elements. The remaining six non-ICE GIs represented miscellaneous structures. The presence of various integrons in the same ICE sublineage, and of the same integron in different GIs, indicated circulation and recombination of the integron-carrying genetic platforms across Pseudomonas species/genotypes. CONCLUSIONS: Despite the general diversity of the blaVIM-carrying GIs in Pseudomonas spp. in Poland, a clear predominance of broadly spread and rapidly evolving clc-type ICEs was documented, confirming their significant role in antimicrobial resistance epidemiology.


Asunto(s)
Islas Genómicas , Integrones , Infecciones por Pseudomonas , beta-Lactamasas , Polonia/epidemiología , beta-Lactamasas/genética , Integrones/genética , Humanos , Infecciones por Pseudomonas/microbiología , Infecciones por Pseudomonas/epidemiología , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/enzimología , Pseudomonas aeruginosa/efectos de los fármacos , Pseudomonas/genética , Pseudomonas/enzimología , Pseudomonas/aislamiento & purificación , Antibacterianos/farmacología , Genotipo , Pruebas de Sensibilidad Microbiana , Elementos Transponibles de ADN/genética
9.
J Med Virol ; 96(2): e29482, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38381668

RESUMEN

The human immunodeficiency virus type 1 (HIV-1) A6 sub-subtype is highly prevalent in Eastern Europe. Over the past decade, the dissemination of the A6 lineage has been expanding in Poland. The recent Russian invasion of Ukraine may further escalate the spread of this sub-subtype. While evolutionary studies using viral sequences have been instrumental in identifying the HIV epidemic patterns, the origins, and dynamics of the A6 sub-subtype in Poland remain to be explored. We analyzed 1185 HIV-1 A6 pol sequences from Poland, along with 8318 publicly available sequences from other countries. For analyses, phylogenetic tree construction, population dynamics inference, Bayesian analysis, and discrete phylogeographic modeling were employed. Of the introduction events to Poland, 69.94% originated from Ukraine, followed by 29.17% from Russia. Most A6 sequences in Poland (53.16%) formed four large clades, with their introductions spanning 1993-2008. Central and Southern Polish regions significantly influenced migration events. Transmissions among men who have sex with men (MSM) emerged as the dominant risk group for virus circulation, representing 72.92% of migration events. Sequences from migrants were found primarily outside the large clades. Past migration from Ukraine has fueled the spread of the A6 sub-subtype and the current influx of war-displaced people maintains the growing national epidemic.


Asunto(s)
Epidemias , Infecciones por VIH , VIH-1 , Minorías Sexuales y de Género , Masculino , Humanos , Filogenia , Polonia/epidemiología , Homosexualidad Masculina , VIH-1/genética , Infecciones por VIH/epidemiología , Teorema de Bayes
10.
J Med Virol ; 96(5): e29651, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38712743

RESUMEN

Understanding how the infectious disease burden was affected throughout the COVID-19 pandemic is pivotal to identifying potential hot spots and guiding future mitigation measures. Therefore, our study aimed to analyze the changes in the rate of new cases of Poland's most frequent infectious diseases during the entire COVID-19 pandemic and after the influx of war refugees from Ukraine. We performed a registry-based population-wide study in Poland to analyze the changes in the rate of 24 infectious disease cases from 2020 to 2023 and compared them to the prepandemic period (2016-2019). Data were collected from publicly archived datasets of the Epimeld database published by national epidemiological authority institutions. The rate of most of the studied diseases (66.6%) revealed significantly negative correlations with the rate of SARS-CoV-2 infections. For the majority of infectious diseases, it substantially decreased in 2020 (in case of 83%) and 2021 (63%), following which it mostly rebounded to the prepandemic levels and, in some cases, exceeded them in 2023 when the exceptionally high annual rates of new cases of scarlet fever, Streptococcus pneumoniae infections, HIV infections, syphilis, gonococcal infections, and tick-borne encephalitis were noted. The rate of Clostridioides difficile enterocolitis was two-fold higher than before the pandemic from 2021 onward. The rate of Legionnaires' disease in 2023 also exceeded the prepandemic threshold, although this was due to a local outbreak unrelated to lifted COVID-19 pandemic restrictions or migration of war refugees. The influx of war migrants from Ukraine could impact the epidemiology of sexually transmitted diseases. The present analysis indicates that continued efforts are needed to prevent COVID-19 from overwhelming healthcare systems again and decreasing the control over the burden of other infectious diseases. It also identifies the potential tipping points that require additional mitigation measures, which are also discussed in the paper, to avoid escalation in the future.


Asunto(s)
COVID-19 , Enfermedades Transmisibles , Refugiados , Humanos , COVID-19/epidemiología , Ucrania/epidemiología , Polonia/epidemiología , Refugiados/estadística & datos numéricos , Enfermedades Transmisibles/epidemiología , SARS-CoV-2 , Femenino , Masculino , Pandemias , Adulto , Sistema de Registros , Costo de Enfermedad , Conflictos Armados
11.
Eur J Clin Invest ; 54(8): e14213, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38616505

RESUMEN

BACKGROUND: Gallstone disease (GD) is common but remains asymptomatic in most cases. However, gallstones can lead to complications like choledocholithiasis or gallbladder cancer. In this study, we analyse the common genetic risk factor for GD, the p.D19H variant in the sterol transporter ABCG8, in Polish patients with gallstones and gallbladder cancer. METHODS: Three adult cohorts were prospectively recruited: 65 patients with gallbladder cancer, 170 obese individuals scheduled for bariatric surgery and 72 patients who underwent endoscopic retrograde cholangiopancreatography due to recurrent choledocholithiasis. The control cohort consisted of 172 gallstone-free adults. The ABCG8 p.D19H (rs11887534) polymorphism was genotyped using TaqMan assays. RESULTS: The minor allele frequency (MAF) of the ABCG8 p.D19H polymorphism was significantly (p = .02) higher among cases with either gallstones or gallbladder cancer (MAF = 8.4%) as compared to controls (MAF = 4.0%). The highest frequency of the risk allele was detected in patients with gallbladder cancer (18.5%) and obese patients with GD (17.5%), followed by individuals with choledocholithiasis (13.9%). Notably, the p.19H variant was associated with an increased risk of developing gallbladder cancer (OR 2.76, 95% CI 1.16-6.54, p = .01) and an increased risk of GD in obese individuals scheduled for bariatric surgery (OR = 2.70, 95% CI 1.05-6.49, p = .03), but did not significantly affect the risk of choledocholithiasis. CONCLUSIONS: The ABCG8 p.D19H common risk variant increases the risk of developing gallbladder cancer in Central Europeans and enhances the risk of gallstones in the obese. Carriers of the p.D19H variant might benefit from personalized preventive strategies, particularly regarding gallbladder cancer.


Asunto(s)
Transportador de Casete de Unión a ATP, Subfamilia G, Miembro 8 , Neoplasias de la Vesícula Biliar , Cálculos Biliares , Obesidad , Humanos , Masculino , Transportador de Casete de Unión a ATP, Subfamilia G, Miembro 8/genética , Femenino , Persona de Mediana Edad , Cálculos Biliares/genética , Obesidad/genética , Obesidad/complicaciones , Polonia/epidemiología , Neoplasias de la Vesícula Biliar/genética , Neoplasias de la Vesícula Biliar/epidemiología , Adulto , Estudios de Casos y Controles , Anciano , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple , Estudios Prospectivos , Frecuencia de los Genes , Factores de Riesgo , Polimorfismo Genético
12.
BMC Cancer ; 24(1): 686, 2024 Jun 05.
Artículo en Inglés | MEDLINE | ID: mdl-38840114

RESUMEN

OBJECTIVE: Primary tracheal tumors are very rare and their management is not definitely established. Due to its rarity, providing patient care in terms of optimal management poses a considerable challenge. The purpose of this study was to investigate treatment outcomes in patients with these rare tumors. METHODS: We carried out a retrospective analysis of 89 patients with primary tracheal tumors treated at the Maria Sklodowska-Curie National Research Institute of Oncology in Warsaw, Poland, over sixteen years. The study assessed patient demographics, tumor characteristics and treatment. Different treatment options were compared in terms of overall survival, disease-free survival, and progression-free survival. RESULTS: A total of 89 patients were included in the study. In the group presented, 45 patients underwent primary radical treatment and 44 were qualified for palliative treatment. Surgical resection was performed in 13 patients out of radically treated patients. The 5 year OS rates in the group of patients who underwent radical treatment and in the group of patients who underwent palliative treatment were 45.9% and 2.3%, respectively. In the group of patients who underwent radical surgical treatment, the 5 year OS was 76.9% compared to 35.8% in the group of patients who underwent nonsurgical treatment. CONCLUSION: A multidisciplinary team should decide treatment options, including in-depth consideration of surgical treatment options.


Asunto(s)
Neoplasias de la Tráquea , Humanos , Masculino , Neoplasias de la Tráquea/terapia , Neoplasias de la Tráquea/mortalidad , Neoplasias de la Tráquea/patología , Estudios Retrospectivos , Femenino , Persona de Mediana Edad , Anciano , Adulto , Resultado del Tratamiento , Anciano de 80 o más Años , Cuidados Paliativos/métodos , Adulto Joven , Polonia/epidemiología , Adolescente
13.
Eur J Clin Microbiol Infect Dis ; 43(8): 1579-1587, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38811482

RESUMEN

PURPOSE: Amongst all etiologic hospital-acquired infection factors, K. pneumoniae strains producing New Delhi metallo-ß-lactamase (KP-NDM) belong to pathogens with the most effective antibiotic resistance mechanisms. Clinical guidelines recommend using ceftazidime/avibactam with aztreonam (CZA + AT) as the preferred option for NDM-producing Enterobacterales. However, the number of observations on such treatment regimen is limited. This retrospective study reports the clinical and microbiological outcomes of 23 patients with KP-NDM hospital-acquired infection treated with CZA + AT at a single center in Poland. METHODS: The isolates were derived from the urine, lungs, blood, peritoneal cavity, wounds, and peritonsillar abscess. In microbiological analysis, mass spectrometry for pathogen identification, polymerase chain reaction, or an immunochromatographic assay for detection of carbapenemase, as well as VITEK-2 system, broth microdilution, and microdilution in agar method for antimicrobial susceptibility tests were used, depending of the pathogens' nature. CZA was administered intravenously (IV) at 2.5 g every eight hours in patients with normal kidney function, and aztreonam was administered at 2 g every eight hours IV. Such dosage was modified when renal function was reduced. RESULTS: KP-NDM was eradicated in all cases. Four patients (17.4%) died: three of them had a neoplastic disease, and one - a COVID-19 infection. CONCLUSION: The combination of CZA + AT is a safe and effective therapy for infections caused by KP-NDM, both at the clinical and microbiological levels. The synergistic action of all compounds resulted in a good agreement between the clinical efficacy of CZA + AT and the results of in vitro susceptibility testing.


Asunto(s)
Antibacterianos , Compuestos de Azabiciclo , Aztreonam , Ceftazidima , Combinación de Medicamentos , Infecciones por Klebsiella , Klebsiella pneumoniae , beta-Lactamasas , Humanos , Klebsiella pneumoniae/efectos de los fármacos , Klebsiella pneumoniae/enzimología , Aztreonam/farmacología , Aztreonam/uso terapéutico , beta-Lactamasas/metabolismo , Masculino , Compuestos de Azabiciclo/uso terapéutico , Compuestos de Azabiciclo/farmacología , Femenino , Infecciones por Klebsiella/tratamiento farmacológico , Infecciones por Klebsiella/microbiología , Persona de Mediana Edad , Estudios Retrospectivos , Anciano , Ceftazidima/uso terapéutico , Ceftazidima/farmacología , Antibacterianos/uso terapéutico , Antibacterianos/farmacología , Polonia , Pruebas de Sensibilidad Microbiana , Adulto , Anciano de 80 o más Años , Resultado del Tratamiento , Infección Hospitalaria/tratamiento farmacológico , Infección Hospitalaria/microbiología
14.
Biol Lett ; 20(6): 20240120, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38863390

RESUMEN

What makes an odour pleasant or unpleasant? The inherent properties of the constituent chemical compounds, or the nose of the beholder, driven by idiosyncratic differences and culture-specific learning? Here, 582 individuals, including Tanzanian Hadza hunter-gatherers, Amazonian Tsimane' horticulturalists, Yali from the Papuan highlands and two industrialized populations (Poles, Malaysians), rated the pleasantness of 15 odour samples. We find considerable similarities in odour assessments across cultures, but our data do not fully support a claim regarding the universality of smell preferences. Despite cross-cultural similarities in olfactory assessments, probably driven by odour properties, we suggest that odour availability in ecological and cultural niches bears an undeniable effect on human odour preferences.


Asunto(s)
Comparación Transcultural , Odorantes , Humanos , Adulto , Masculino , Femenino , Adulto Joven , Olfato/fisiología , Polonia , Persona de Mediana Edad , Malasia , Adolescente , Percepción Olfatoria , África Oriental
15.
Biol Lett ; 20(5): 20240041, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38773928

RESUMEN

Corneous skin appendages are not only common and diverse in crown-group amniotes but also present in some modern amphibians. This raises the still unresolved question of whether the ability to form corneous skin appendages is an apomorphy of a common ancestor of amphibians and amniotes or evolved independently in both groups. So far, there is no palaeontological contribution to the issue owing to the lack of keratin soft tissue preservation in Palaeozoic anamniotes. New data are provided by a recently discovered ichnofossil specimen from the early Permian of Poland that shows monospecific tetrapod footprints associated with a partial scaly body impression. The traces can be unambiguously attributed to diadectids and are interpreted as the globally first evidence of horned scales in tetrapods close to the origin of amniotes. Taking hitherto little-noticed scaly skin impressions of lepospondyl stem amniotes from the early Permian of Germany into account, the possibility has to be considered that the evolutionary origin of epidermal scales deeply roots among anamniotes.


Asunto(s)
Evolución Biológica , Epidermis , Fósiles , Animales , Fósiles/anatomía & histología , Epidermis/anatomía & histología , Anfibios/anatomía & histología , Anfibios/clasificación , Polonia , Escamas de Animales/anatomía & histología , Piel/anatomía & histología
16.
Popul Health Metr ; 22(1): 18, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39030517

RESUMEN

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic is associated with increases in morbidity and mortality worldwide. The mechanisms of how SARS-CoV-2 may cause cardiovascular (CV) complications are under investigation. The aim of the study was to assess the impact of the COVID-19 pandemic on CV risk. METHODS: These are single-centre Bialystok PLUS (Poland) population-based and case‒control studies. The survey was conducted between 2018 and 2022 on a sample of residents (n = 1507) of a large city in central Europe and patients 6-9 months post-COVID-19 infection (n = 126). The Systematic Coronary Risk Estimation 2 (SCORE2), the Systematic Coronary Risk Estimation 2-Older Persons (SCORE2-OP), the Cardiovascular Disease Framingham Heart Study and the LIFEtime-perspective model for individualizing CardioVascular Disease prevention strategies in apparently healthy people (LIFE-CVD) were used. Subsequently, the study populations were divided into CV risk classes according to the 2021 ESC Guidelines on cardiovascular disease prevention in clinical practice. RESULTS: The study population consisted of 4 groups: a general population examined before (I, n = 691) and during the COVID-19 pandemic (II, n = 816); a group of 126 patients post-COVID-19 infection (III); and a control group matched subjects chosen from the pre-COVID-19 pandemic (IV). Group II was characterized by lower blood pressure, low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c) values than group I. Group III differed from the control group in terms of lower LDL-c level. There was no effect on CV risk in the general population, but in the population post-COVID-19 infection, CV risk was lower using FS-lipids, FS-BMI and LIFE-CVD 10-year risk scores compared to the prepandemic population. In all subgroups analysed, no statistically significant difference was found in the frequency of CV risk classes. CONCLUSIONS: The COVID-19 pandemic did not increase the CV risk calculated for primary prevention. Instead, it prompted people to pay attention to their health status, as evidenced by better control of some CV risk factors. As the COVID-19 pandemic has drawn people's attention to health, it is worth exploiting this opportunity to improve public health knowledge through the design of wide-ranging information campaigns.


Asunto(s)
COVID-19 , Enfermedades Cardiovasculares , Factores de Riesgo de Enfermedad Cardiaca , SARS-CoV-2 , Humanos , COVID-19/epidemiología , Enfermedades Cardiovasculares/epidemiología , Estudios de Casos y Controles , Masculino , Femenino , Persona de Mediana Edad , Anciano , Adulto , Polonia/epidemiología , Pandemias , Medición de Riesgo , Factores de Riesgo
17.
BMC Infect Dis ; 24(1): 625, 2024 Jun 23.
Artículo en Inglés | MEDLINE | ID: mdl-38910242

RESUMEN

BACKGROUND: In the last two decades, a significant increase in the number of Clostridioides difficile infection (CDI) cases has been observed. It is understandable to attempt to determine the factors that can predict the severity of the course of the infection and identify patients at risk of death. This study aimed to analyze the factors affecting the incidence and mortality of CDI in inpatient treatment at the University Clinical Hospital in Wroclaw in 2016-2018. METHODS: Statistical analysis of data obtained from patients' medical records was performed. Only patients with symptoms of infection and infection confirmed by laboratory tests were enrolled in the study. When analyzing the number of deaths, only adult patients who died in hospital wards were included. The quantitative data including laboratory tests, used antibiotics and Nutritional Risk Screening (NRS) were assessed. Also, the qualitative data such as sex, year of hospitalization, occurrence of diarrhoea on admission to the hospital, presence of additional diseases, as wee ad the use of antibacterial drugs or proton pump blockers and ranitidine during hospitalization were analyzed. RESULTS: A total of 319 adult CDI patients (178 women and 141 men) were enrolled of which 80 people died (50 women and 30 men). The mean age of the patients was 72.08 ± 16.74 years. Over the entire period studied, the morbidity was 174 cases per 100,000 hospitalizations while mortality was 25.08%. The group of deceased patients was characterized by: older age (by 9.24 years), longer duration of hospitalization (by 10 days), reduced albumin levels (Rho = -0.235, p < 0.001), higher urea levels, use of more antibiotics, higher risk of malnutrition in NRS (Rho = 0.219, p < 0.001), higher incidence of sepsis, heart failure, stroke, hypothyroidism. Pneumonia was diagnosed twice as often. It was also shown that deceased patients were significantly more likely to take penicillin and fluoroquinolones. CONCLUSIONS: In this study, the morbidity was lower, but mortality was higher compared to similar hospitals in Poland. CDI patients were characterized by older age, multimorbidity, extended hospitalization, and the use of broad-spectrum antibiotics. Risk factors for death included advanced age, prolonged hospital stays, lower albumin, higher urea, malnutrition, and comorbidities like heart failure, stroke, pneumonia, sepsis, and hypothyroidism. Increased antibiotic use, particularly penicillin and fluoroquinolones, was associated with a higher mortality risk.


Asunto(s)
Clostridioides difficile , Infecciones por Clostridium , Hospitalización , Hospitales Universitarios , Humanos , Masculino , Femenino , Infecciones por Clostridium/mortalidad , Infecciones por Clostridium/epidemiología , Infecciones por Clostridium/microbiología , Infecciones por Clostridium/tratamiento farmacológico , Anciano , Polonia/epidemiología , Persona de Mediana Edad , Anciano de 80 o más Años , Hospitales Universitarios/estadística & datos numéricos , Hospitalización/estadística & datos numéricos , Incidencia , Factores de Riesgo , Antibacterianos/uso terapéutico , Adulto
18.
Avian Pathol ; 53(4): 291-302, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38385975

RESUMEN

ABSTRACTThe study describes three clinical cases of infection with Avibacterium spp.. In case no. 1, respiratory clinical signs and high mortality (0.7-4.2% daily; total 21.2%) in Ross 308 broiler chickens were shown to be caused by coinfection with sequence type 9 of O. rhinotracheale presumptive serotype A and A. paragallinarum presumptive serotype B. The identical (pulsed-field gel electrophoresis) restriction pattern (pulsotype) of seven A. paragallinarum isolates indicated that infectious coryza in broilers was caused by the same clone. In cases 2 and 3, sudden increased deaths in Ross 308 broiler breeders (especially males) with lesions in the endocardium (valvular or mural endocarditis) were shown to be caused by A. endocarditis. Among nine antibiotics tested, florfenicol was the only antibiotic to which all A. paragallinarum and O. rhinotracheale isolates were susceptible. Out of the eight antibiotics tested, 11 A. endocarditis isolates from both clinical cases of infective endocarditis were susceptible to penicillin, amoxicillin, doxycycline and florfenicol. The A. endocarditis isolates tested in both clinical cases had different PFGE patterns (pulsotypes), but identical within a case. The causes of infectious coryza and infective endocarditis in the cases presented have not been determined. In the prevention of infectious diseases in large-scale livestock farming, it is very important to follow the rules of biosecurity.


Asunto(s)
Antibacterianos , Pollos , Coinfección , Infecciones por Flavobacteriaceae , Infecciones por Haemophilus , Ornithobacterium , Enfermedades de las Aves de Corral , Animales , Enfermedades de las Aves de Corral/microbiología , Enfermedades de las Aves de Corral/patología , Pollos/microbiología , Ornithobacterium/genética , Ornithobacterium/aislamiento & purificación , Femenino , Coinfección/veterinaria , Coinfección/microbiología , Infecciones por Flavobacteriaceae/veterinaria , Infecciones por Flavobacteriaceae/microbiología , Antibacterianos/farmacología , Antibacterianos/uso terapéutico , Masculino , Polonia/epidemiología , Infecciones por Haemophilus/veterinaria , Infecciones por Haemophilus/microbiología , Haemophilus paragallinarum/genética , Haemophilus paragallinarum/aislamiento & purificación , Endocarditis Bacteriana/veterinaria , Endocarditis Bacteriana/microbiología , Pasteurellaceae/aislamiento & purificación , Pasteurellaceae/genética , Pruebas de Sensibilidad Microbiana/veterinaria
19.
J Pediatr Gastroenterol Nutr ; 79(1): 131-139, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38291802

RESUMEN

BACKGROUND/OBJECTIVES: To assess the nutritional status and incidence of feeding difficulties in Polish children up to 2 years of age with cow's milk allergy (CMA) on cow's milk proteins-free diet. METHODS: A cross-sectional, multi-center study included children aged 6 months to 2 years with confirmed or suspected (without oral food challenge) diagnosis of CMA on the elimination diet for at least 1 month. The primary outcomes were an assessment of proportion of children with impaired nutritional status (with the weight for length and body mass index (BMI) z-score > 1 and <-1), and feeding difficulties according to the Montreal Children's Hospital Feeding Scale. Children with confirmed and suspected CMA were assessed separately. RESULTS: A 144 children with confirmed CMA and 88 with suspected CMA were included (57 and 78% with multiple food allergies, respectively). Among children with confirmed CMA, one-third (35.5%) of participants had any nutritional status impairment regardless of definition. Among those, most of children had mild malnutrition (10.4 vs. 9%) and possible risk of overweight (11.1 vs. 9.7%; following respectively BMI for age and weight for length z-scores). Only 16.0% of children had feeding difficulties. Feeding difficulties was identified to be a risk factor for moderate malnutrition compared to children without feeding difficulties (odds ratio 10, 95% confidence interval: 4-27). CONCLUSIONS: Mild malnutrition and possible risk of overweight are concern in children up to 2 years of age on cow's milk proteins-free diet. Feeding difficulties are less common, however, may affect the nutritional status.


Asunto(s)
Hipersensibilidad a la Leche , Estado Nutricional , Humanos , Hipersensibilidad a la Leche/complicaciones , Hipersensibilidad a la Leche/epidemiología , Estudios Transversales , Masculino , Femenino , Lactante , Preescolar , Polonia/epidemiología , Animales , Índice de Masa Corporal , Desnutrición/epidemiología , Desnutrición/etiología
20.
Parasitology ; 151(4): 351-362, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38305092

RESUMEN

Cryptosporidium spp., Giardia intestinalis and microsporidia are unicellular opportunistic pathogens that can cause gastrointestinal infections in both animals and humans. Since companion animals may serve as a source of infection, the aim of the present screening study was to analyse the prevalence of these intestinal protists in fecal samples collected from dogs living in 10 animal shelters in central Europe (101 dogs from Poland and 86 from the Czech Republic), combined with molecular subtyping of the detected organisms in order to assess their genetic diversity. Genus-specific polymerase chain reactions were performed to detect DNA of the tested species and to conduct molecular subtyping in collected samples, followed by statistical evaluation of the data obtained (using χ2 or Fisher's tests). The observed prevalence was 15.5, 10.2, 1 and 1% for G. intestinalis, Enterocytozoon bieneusi, Cryptosporidium spp. and Encephalitozoon cuniculi, respectively. Molecular evaluation has revealed the predominance of dog-specific genotypes (Cryptosporidium canis XXe1 subtype; G. intestinalis assemblages C and D; E. cuniculi genotype II; E. bieneusi genotypes D and PtEbIX), suggesting that shelter dogs do not pose a high risk of human transmission. Interestingly, the percentage distribution of the detected pathogens differed between both countries and individual shelters, suggesting that the risk of infection may be associated with conditions typical of a given location.


Asunto(s)
Criptosporidiosis , Cryptosporidium , Enfermedades de los Perros , Enterocytozoon , Heces , Giardiasis , Microsporidiosis , Animales , Perros , Enfermedades de los Perros/parasitología , Enfermedades de los Perros/epidemiología , Enfermedades de los Perros/microbiología , Enterocytozoon/genética , Enterocytozoon/aislamiento & purificación , Enterocytozoon/clasificación , Cryptosporidium/genética , Cryptosporidium/aislamiento & purificación , Cryptosporidium/clasificación , Microsporidiosis/veterinaria , Microsporidiosis/epidemiología , Polonia/epidemiología , Criptosporidiosis/epidemiología , Criptosporidiosis/parasitología , Heces/parasitología , Heces/microbiología , República Checa/epidemiología , Giardiasis/veterinaria , Giardiasis/epidemiología , Giardiasis/parasitología , Prevalencia , Giardia/genética , Giardia/aislamiento & purificación , Giardia/clasificación , Genotipo , Giardia lamblia/genética , Giardia lamblia/aislamiento & purificación , Giardia lamblia/clasificación , Especificidad del Huésped
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