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1.
Med Int (Lond) ; 4(3): 29, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38660126

RESUMEN

Thyroid abscess is a rare entity, commonly experienced by immunocompromised patients, or those who have anatomical abnormalities or a pre-existing thyroid disease. An early diagnosis continued by treatment with antibiotics and drainage of the abscess is the recommended therapeutic strategy for such cases. The present study describes a clinical case of this rare event, and also provides a brief literature review. The present study describes the case of a 48-year-old healthy male with no medical antecedents, apart from acute prostatitis treated with antibiotics for 6 days prior, who visited the Emergency Department of the authors' hospital with neck pain and progressive swelling of the mass. Diagnostic imaging confirmed the authors' suspicion of an abscess and revealed the lesion displacing the airway to the contralateral side. This restricted the mobility of the neck of the patient. As an emergency measure, the patient was then taken to the operating room for a neck examination. A hemithyroidectomy was finally performed. Following a prolonged hospital duration, he was discharged from the hospital and his recovery was uneventful without any voice alterations, hypocalcemia or recurrence.

2.
New Phytol ; 242(2): 372-383, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38429882

RESUMEN

Global agriculture faces increasing pressure to produce more food with fewer resources. Drought, exacerbated by climate change, is a major agricultural constraint costing the industry an estimated US$80 billion per year in lost production. Wild relatives of domesticated crops, including wheat (Triticum spp.) and barley (Hordeum vulgare L.), are an underutilized source of drought tolerance genes. However, managing their undesirable characteristics, assessing drought responses, and selecting lines with heritable traits remains a significant challenge. Here, we propose a novel strategy of using multi-trait selection criteria based on high-throughput spectral images to facilitate the assessment and selection challenge. The importance of measuring plant capacity for sustained carbon fixation under drought stress is explored, and an image-based transpiration efficiency (iTE) index obtained via a combination of hyperspectral and thermal imaging, is proposed. Incorporating iTE along with other drought-related variables in selection criteria will allow the identification of accessions with diverse tolerance mechanisms. A comprehensive approach that merges high-throughput phenotyping and de novo domestication is proposed for developing drought-tolerant prebreeding material and providing breeders with access to gene pools containing unexplored drought tolerance mechanisms.


Asunto(s)
Productos Agrícolas , Resistencia a la Sequía , Fenotipo , Productos Agrícolas/genética , Sequías
3.
J Anim Breed Genet ; 141(2): 153-162, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37888514

RESUMEN

Crossbreeding plays a pivotal role within pig breeding programmes, aiming to maximize heterosis and improve reproductive traits in crossbred maternal lines. Nevertheless, there is evidence indicating that the performance of reciprocal crosses between two genetic lines might exhibit variability. These variations in performance can be attributed to differences in the correlations between gametic effects, acting as either sire or dam, within purebred and crossbred populations. To address this issue, we propose a multivariate gametic model that incorporates up to four correlated gametic effects for each parental population. The model is employed on a data set comprising litter size data (total number of piglets born-TNB- and number of piglets born alive-NBA-) derived from a reciprocal cross involving two Iberian pig populations: Entrepelado and Retinto. The data set comprises 6933 records from 1564 purebred Entrepelado (EE) sows, 4995 records from 1015 Entrepelado × Retinto (ER) crosses, 2977 records from 756 Retinto × Entrepelado (RE) crosses and 7497 records from 1577 purebred Retinto (RR) sows. The data set is further supplemented by a pedigree encompassing 6007 individual-sire-dam entries. The statistical model also included the order of parity (with six levels), the breed of the service sire (five levels) and the herd-year-season effects (141 levels). Additionally, the model integrates random dominant and permanent environmental sow effects. The analysis employed a Bayesian approach, and the results revealed all the posterior estimates of the gametic correlations to be positive. The range of the posterior mean estimates of the correlations varied across different gametic effects and traits, with a range between 0.04 (gametic correlation between the paternal effects for purebred and the maternal for crossbred in Retinto) and 0.53 (gametic correlation between the paternal effects for purebred and the paternal for crossbred in Entrepelado). Furthermore, the posterior mean variance estimates of the maternal gametic effects were consistently surpassed those for paternal effects within all four populations. The results suggest the possible influence of imprinting effects on the genetic control of litter size, and underscore the importance of incorporating crossbred data into the breeding value predictions for purebred individuals.


Asunto(s)
Cruzamiento , Hibridación Genética , Humanos , Embarazo , Porcinos/genética , Animales , Femenino , Teorema de Bayes , Reproducción , Vigor Híbrido , Cruzamientos Genéticos
5.
Animals (Basel) ; 13(19)2023 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-37835677

RESUMEN

Maternal genetic effects (MGE) could affect meat quality traits such as intramuscular fat (IMF) and its fatty acid composition. However, it has been scarcely studied, especially in rabbits. The objectives of the present study were, first, to assess the importance of MGE on intramuscular fat and fatty acid composition by applying a Bayesian maternal animal model in two rabbit lines divergently selected for IMF. The second objective was to identify genomic regions and candidate genes of MGE that are associated with the traits of these offspring, using Bayesian methods in a Genome Wide Association Study (GWAS). Quantitative analyses were performed using data from 1982 rabbits, and 349 animals from the 9th generation and 76 dams of the 8th generation with 88,512 SNPs were used for the GWAS. The studied traits were IMF, saturated fatty acids (total SFA, C14:0; myristic acid, C16:0; palmitic acid and C18:0; stearic acid), monounsaturated fatty acids (total MUFA, C16:1n-7; palmitoleic acid and C18:1n-9; oleic acid), polyunsaturated fatty acids (total PUFA, C18:2n-6; linoleic acid, C18:3n-3; α-linolenic acid and C20:4n-6; arachidonic acid), MUFA/SFA and PUFA/SFA. The proportion of phenotypic variance explained by the maternal genetic effect ranged from 8 to 22% for IMF, depending on the model. For fatty acid composition, the proportion of phenotypic variance explained by maternal genetic effects varied from 10% (C18:0) to 46% (MUFA) in a model including both direct and additive maternal genetic effects, together with the common litter effect as a random variable. In particular, there were significant direct maternal genetic correlations for C16:0, C18:1n9, C18:2n6, SFA, MUFA, and PUFA with values ranging from -0.53 to -0.89. Relevant associated genomic regions were located on the rabbit chromosomes (OCU) OCU1, OCU5 and OCU19 containing some relevant candidates (TANC2, ACE, MAP3K3, TEX2, PRKCA, SH3GL2, CNTLN, RPGRIP1L and FTO) related to lipid metabolism, binding, and obesity. These regions explained about 1.2 to 13.9% of the total genomic variance of the traits studied. Our results showed an important maternal genetic effect on IMF and its fatty acid composition in rabbits and identified promising candidate genes associated with these traits.

6.
Front Med (Lausanne) ; 10: 1215246, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37809329

RESUMEN

Introduction: SARS-CoV-2 viral load has been related to COVID-19 severity. The main aim of this study was to evaluate the relationship between SARS-CoV-2 viremia and SNPs in genes previously studied by our group as predictors of COVID-19 severity. Materials and methods: Retrospective observational study including 340 patients hospitalized for COVID-19 in the University Hospital La Princesa between March 2020 and December 2021, with at least one viremia determination. Positive viremia was considered when viral load was above the quantifiable threshold (20 copies/ml). A total of 38 SNPs were genotyped. To study their association with viremia a multivariate logistic regression was performed. Results: The mean age of the studied population was 64.5 years (SD 16.6), 60.9% patients were male and 79.4% white non-Hispanic. Only 126 patients (37.1%) had at least one positive viremia. After adjustment by confounders, the presence of the minor alleles of rs2071746 (HMOX1; T/T genotype OR 9.9 p < 0.0001), rs78958998 (probably associated with SERPING1 expression; A/T genotype OR 2.3, p = 0.04 and T/T genotype OR 12.9, p < 0.0001), and rs713400 (eQTL for TMPRSS2; C/T + T/T genotype OR 1.86, p = 0.10) were associated with higher risk of viremia, whereas the minor alleles of rs11052877 (CD69; A/G genotype OR 0.5, p = 0.04 and G/G genotype OR 0.3, p = 0.01), rs2660 (OAS1; A/G genotype OR 0.6, p = 0.08), rs896 (VIPR1; T/T genotype OR 0.4, p = 0.02) and rs33980500 (TRAF3IP2; C/T + T/T genotype OR 0.3, p = 0.01) were associated with lower risk of viremia. Conclusion: Genetic variants in HMOX1 (rs2071746), SERPING1 (rs78958998), TMPRSS2 (rs713400), CD69 (rs11052877), TRAF3IP2 (rs33980500), OAS1 (rs2660) and VIPR1 (rs896) could explain heterogeneity in SARS-CoV-2 viremia in our population.

7.
Animals (Basel) ; 13(17)2023 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-37684955

RESUMEN

Investigations of population structuring in wild species are fundamental to complete the bigger picture defining their ecological and biological roles in the marine realm, to estimate their recovery capacity triggered by human disturbance and implement more efficient management strategies for fishery resources. The Blackspot Seabream (Pagellus bogaraveo, Brünnich 1768) is a commercially valuable deep-water fish highly exploited over past decades. Considering its exploitation status, deepening the knowledge of intraspecific variability, genetic diversity, and differentiation using high-performing molecular markers is considered an important step for a more effective stock assessment and fishery management. With one of the largest efforts conceived of and completed by countries overlooking the Atlantic and Mediterranean coasts in recent years, a total of 320 individuals were collected from different fishing grounds in the Mediterranean Sea and Atlantic Ocean and analysed using 29 microsatellite loci. We applied multiple statistical approaches to investigate the species' connectivity and population structure across most of its described distribution area. Considering the incomplete knowledge regarding the migratory behaviour of adults, here we suggest the importance of egg and larval dispersal in sustaining the observed genetic connectivity on such a large geographical scale.

8.
Commun Biol ; 6(1): 893, 2023 08 31.
Artículo en Inglés | MEDLINE | ID: mdl-37653068

RESUMEN

This study provides a thorough comparison of the plasma metabolome of two rabbit lines divergently selected for intramuscular fat content (IMF). The divergent selection led to a correlated response in the overall adiposity, turning these lines into a valuable animal material to study also the genetics of obesity. Over 900 metabolites were detected, and the adjustment of multivariate models, both discriminant and linear, allowed to identify 322 with differential abundances between lines, which also adjusted linearly to the IMF content. The most affected pathways were those of lipids and amino acids, with differences between lines ranging from 0.23 to 6.04 standard deviations, revealing a limited capacity of the low-IMF line to obtain energy from lipids, and a greater branched-chain amino acids catabolism in the high-IMF line related to its increased IMF content. Additionally, changes in metabolites derived from microbial activity supported its relevant role in the lipid deposition. Future research will focus on the analysis of the metabolomic profile of the cecum content, and on the integration of the several -omics datasets available for these lines, to help disentangle the host and microbiome biological mechanisms involved in the IMF deposition.


Asunto(s)
Metaboloma , Metabolómica , Animales , Conejos , Adiposidad/genética , Aminoácidos , Obesidad , Lípidos
9.
Rev Esp Enferm Dig ; 115(11): 608-614, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37314124

RESUMEN

BACKGROUND: the success of strategies with earlier anti-TNF drugs for the treatment of inflammatory bowel disease (IBD) have been shadowed by the development of anti-drug antibodies that reduce their effectiveness. The HLA-DQA1*05 allele has been shown to increase the risk of immunogenicity to anti-TNF drugs by approximately two-fold. The negative impact of this allele has not been fully investigated for newer biotherapies. OBJECTIVE: whether the presence of the HLA-DQA1*05 allele is associated with a reduction of response to ustekinumab and vedolizumab was investigated. MATERIAL AND METHODS: the impact of HLA-DQA1*05 on disease activity in 93 patients with IBD, treated with ustekinumab (n = 39) or vedolizumab (n = 54) was investigated in a retrospective cohort study. Treatment response and remission was assessed at 6 and 12 months for ustekinumab, and up to 18 and 24 months for vedolizumab, using Harvey-Bradshaw index (Crohn's disease) and Mayo score (ulcerative colitis). RESULTS: the HLA-DQA1*05 allele was found in 35.9 % and 38.9 % of patients treated with ustekinumab and vedolizumab, respectively. Clinical response was not affected by the presence of the HLA-DQA1*05 allele for both treatment groups. CONCLUSIONS: in contrast to anti-TNF drugs, HLA-DQA1*05 presence does not correlate with the decreased response to ustekinumab or vedolizumab.


Asunto(s)
Enfermedades Inflamatorias del Intestino , Ustekinumab , Humanos , Ustekinumab/uso terapéutico , Estudios Retrospectivos , Inhibidores del Factor de Necrosis Tumoral , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/genética , Genotipo
10.
Animals (Basel) ; 13(10)2023 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-37238078

RESUMEN

INGA FOOD, S.A. initiated a crossbreeding program between two Iberian pig varieties, Retinto (R) and Entrepelado (E), with the goal of producing a hybrid sow (F1). Several studies have been conducted to evaluate its productive performance, and these studies have revealed differences in litter size between the two reciprocal crosses, suggesting the presence of genomic imprinting effects. To further investigate these effects, this study introduces a multivariate gametic model designed to estimate gametic correlations between paternal and maternal effects originating from both genetic backgrounds involved in the reciprocal crosses. The dataset consisted of 1258 records (the total number born-TNB and the number born alive-NBA) from 203 crossbred dams for the Entrepelado (sire) × Retinto (dam) cross and 700 records from 125 crossbred dams for the Retinto (sire) × Entrepelado (dam) cross. All animals were genotyped using the GeneSeek® GPP Porcine 70 K HDchip (Illumina Inc., San Diego, CA, USA). The results indicated that the posterior distribution of the gametic correlation between paternal and maternal effects was distinctly different between the two populations. Specifically, in the Retinto population, the gametic correlation showed a positive skew with posterior probabilities of 0.78 for the TNB and 0.80 for the NBA. On the other hand, the Entrepelado population showed a posterior probability of a positive gametic correlation between paternal and maternal effects of approximately 0.50. The differences in the shape of the posterior distribution of the gametic correlations between paternal and maternal effects observed in the two varieties may account for the distinct performance outcomes observed in the reciprocal crosses.

11.
Med Int (Lond) ; 3(2): 15, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36925759

RESUMEN

Uterine carcinosarcoma (UCS) is a high-grade endometrial cancer characterized by two components: Carcinomatous (epithelial) and sarcomatous (stromal tissue) elements. The present study describes a clinical case of this type of UCS and also provides a brief literature review of this type of tumor. A 72-year-old female visited the emergency department of the authors' hospital with pain in the hypogastric region, intestinal dysrhythmia since 3 months prior, fever and a palpable abdominal mass. Laboratory test results revealed sepsis and mild anemia and an imaging test revealed a large uterine tumor with wide areas of necrosis and adenopathies. As determined by the multidisciplinary committee, surgery was considered the main treatment option and this was performed with no incidences. Carcinosarcoma is a rare tumor, which most frequently occurs in older women. The diagnosis is based on symptoms and imaging tests, such as ecography and scans. The gold standard of treatment is surgery, although it is possible that other types of therapies, such as chemotherapy and radiotherapy may also be effective, depending on the tumor stage. On the whole, the prognosis of patients with this type of tumor is poor, with a low survival rate, even in earlier stages due to its malignant component and the possibility for metastasis. Surgery is the optimal treatment for this type of tumor, if this is possible, always individualizing patients.

12.
Rev Esp Enferm Dig ; 115(5): 278-279, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36263830

RESUMEN

Primary gastric melanoma is an exceptional tumour with less than 20 cases described in the literature, as its origin is not entirely clear as the presence of melanocytes in the stomach has not been demonstrated. Symptomatology is non-specific, which prevents its early detection, and it is diagnosed in late stages. We present the case of a patient who was admitted to our hospital for vomiting in coffee grounds with analytical and haemodynamic repercussions. Urgent gastroscopy revealed a gastric lesion suspicious for malignancy, which was histologically confirmed as gastric melanoma. The therapeutic approach to these tumours is complex and they have a very poor prognosis.


Asunto(s)
Neoplasias Gastrointestinales , Melanoma , Neoplasias Gástricas , Humanos , Melanoma/diagnóstico por imagen , Melanoma/cirugía , Neoplasias Gástricas/patología , Gastroscopía , Pronóstico
13.
Rev Esp Enferm Dig ; 115(8): 461-462, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-36412481

RESUMEN

The incidence of extramammary Paget's disease (EMPD) is very low. It is very important to distinguish between primary Paget's disease and secondary to another process. An 85-year-old man consulted for the presence of an erythematous plaque located in the anal and gluteal area, confirming Paget cells in the biopsy.


Asunto(s)
Neoplasias de la Mama , Enfermedad de Paget Extramamaria , Neoplasias Cutáneas , Masculino , Humanos , Anciano de 80 o más Años , Enfermedad de Paget Extramamaria/diagnóstico , Enfermedad de Paget Extramamaria/patología , Neoplasias Cutáneas/patología , Canal Anal/patología , Neoplasias de la Mama/patología , Biopsia
14.
Rev. esp. enferm. dig ; 115(11): 608-614, 2023. ilus, tab, graf
Artículo en Inglés | IBECS | ID: ibc-227504

RESUMEN

Background: the success of strategies with earlier anti-TNF drugs for the treatment of inflammatory bowel disease (IBD) have been shadowed by the development of anti-drug antibodies that reduce their effectiveness. The HLA-DQA1*05 allele has been shown to increase the risk of immunogenicity to anti-TNF drugs by approximately two-fold. The negative impact of this allele has not been fully investigated for newer biotherapies. Objective: whether the presence of the HLA-DQA1*05 allele is associated with a reduction of response to ustekinumab and vedolizumab was investigated. Material and methods: the impact of HLA-DQA1*05 on disease activity in 93 patients with IBD, treated with ustekinumab (n = 39) or vedolizumab (n = 54) was investigated in a retrospective cohort study. Treatment response and remission was assessed at 6 and 12 months for ustekinumab, and up to 18 and 24 months for vedolizumab, using Harvey-Bradshaw index (Crohn’s disease) and Mayo score (ulcerative colitis). Results: the HLA-DQA1*05 allele was found in 35.9 % and 38.9 % of patients treated with ustekinumab and vedolizumab, respectively. Clinical response was not affected by the presence of the HLA-DQA1*05 allele for both treatment groups. Conclusions: in contrast to anti-TNF drugs, HLA-DQA1*05 presence does not correlate with the decreased response to ustekinumab or vedolizumab (AU)


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/genética , Ustekinumab/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Antígenos HLA-DQ/genética , Alelos , Resultado del Tratamiento
18.
Front Psychol ; 13: 1020942, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36438313

RESUMEN

Brazilian education faces difficulties relating to performance and illness, suggesting that the characteristics of the work can affect both variables. This study aims to describe the work characteristics that increase the odds of having happy-productive patterns in education workers. A total of 4,598 employees of the Secretariat of Education of the Federal District (SEEDF) participated in the research, answering questionnaires about work design (Brazilian version, with 18 factors), wellbeing (containing three factors), and performance. The results showed that task, social, and contextual characteristics increase the probability of being in the happy-productive pattern, and specifically, Social Support, Feedback from Others, Task Significance, Task Identity, and Autonomy, in this order, should be considered for intervention purposes.

19.
BMC Infect Dis ; 22(1): 859, 2022 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-36396985

RESUMEN

BACKGROUND: Lyme borreliosis (LB) is the most common tick-borne infectious disease in the northern hemisphere. The diagnosis of LB is usually made by clinical symptoms and subsequently supported by serology. In Europe, a two-step testing consisting of an enzyme-linked immunosorbent assay (ELISA) and an immunoblot is recommended. However, due to the low sensitivity of the currently available tests, antibody detection is sometimes inaccurate, especially in the early phase of infection, leading to underdiagnoses. METHODS: To improve upon Borrelia diagnostics, we developed a multiplex Borrelia immunoassay (Borrelia multiplex), which utilizes the new INTELLIFLEX platform, enabling the simultaneous dual detection of IgG and IgM antibodies, saving further time and reducing the biosample material requirement. In order to enable correct classification, the Borrelia multiplex contains eight antigens from the five human pathogenic Borrelia species known in Europe. Six antigens are known to mainly induce an IgG response and two antigens are predominant for an IgM response. RESULTS: To validate the assay, we compared the Borrelia multiplex to a commercial bead-based immunoassay resulting in an overall assay sensitivity of 93.7% (95% CI 84.8-97.5%) and a specificity of 96.5% (95%CI 93.5-98.1%). To confirm the calculated sensitivity and specificity, a comparison with a conventional 2-step diagnostics was performed. With this comparison, we obtained a sensitivity of 95.2% (95% CI 84.2-99.2%) and a specificity of 93.0% (95% CI 90.6-94.7%). CONCLUSION: Borrelia multiplex is a highly reproducible cost- and time-effective assay that enables the profiling of antibodies against several individual antigens simultaneously.


Asunto(s)
Borrelia , Enfermedad de Lyme , Humanos , Anticuerpos Antibacterianos , Pruebas Serológicas/métodos , Inmunoglobulina G , Enfermedad de Lyme/diagnóstico , Inmunoglobulina M
20.
Sci Rep ; 12(1): 19858, 2022 11 18.
Artículo en Inglés | MEDLINE | ID: mdl-36400804

RESUMEN

SARS-CoV-2 variants accumulating immune escape mutations provide a significant risk to vaccine-induced protection against infection. The novel variant of concern (VoC) Omicron BA.1 and its sub-lineages have the largest number of amino acid alterations in its Spike protein to date. Thus, they may efficiently escape recognition by neutralizing antibodies, allowing breakthrough infections in convalescent and vaccinated individuals in particular in those who have only received a primary immunization scheme. We analyzed neutralization activity of sera from individuals after vaccination with all mRNA-, vector- or heterologous immunization schemes currently available in Europe by in vitro neutralization assay at peak response towards SARS-CoV-2 B.1, Omicron sub-lineages BA.1, BA.2, BA.2.12.1, BA.3, BA.4/5, Beta and Delta pseudotypes and also provide longitudinal follow-up data from BNT162b2 vaccinees. All vaccines apart from Ad26.CoV2.S showed high levels of responder rates (96-100%) towards the SARS-CoV-2 B.1 isolate, and minor to moderate reductions in neutralizing Beta and Delta VoC pseudotypes. The novel Omicron variant and its sub-lineages had the biggest impact, both in terms of response rates and neutralization titers. Only mRNA-1273 showed a 100% response rate to Omicron BA.1 and induced the highest level of neutralizing antibody titers, followed by heterologous prime-boost approaches. Homologous BNT162b2 vaccination, vector-based AZD1222 and Ad26.CoV2.S performed less well with peak responder rates of 48%, 56% and 9%, respectively. However, Omicron responder rates in BNT162b2 recipients were maintained in our six month longitudinal follow-up indicating that individuals with cross-protection against Omicron maintain it over time. Overall, our data strongly argue for booster doses in individuals who were previously vaccinated with BNT162b2, or a vector-based primary immunization scheme.


Asunto(s)
COVID-19 , SARS-CoV-2 , Humanos , SARS-CoV-2/genética , Pruebas de Neutralización , Anticuerpos Antivirales , Vacunas contra la COVID-19 , ARN Mensajero , Ad26COVS1 , Vacuna BNT162 , COVID-19/prevención & control , ChAdOx1 nCoV-19 , Vacunación
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