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1.
Pain ; 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38563996

RESUMO

ABSTRACT: Chronic pelvic pain is heterogeneous with potentially clinically informative subgroups. We aimed to identify subgroups of pelvic pain based on symptom patterns and investigate their associations with inflammatory and chronic pain-related comorbidities. Latent class analysis (LCA) identified subgroups of participants (n = 1255) from the Adolescence to Adulthood (A2A) cohort. Six participant characteristics were included in the LCA: severity, frequency, and impact on daily activities of both menstruation-associated (cyclic) and non-menstruation-associated (acyclic) pelvic pain. Three-step LCA quantified associations between LC subgroups, demographic and clinical variables, and 18 comorbidities (10 with prevalence ≥10%). Five subgroups were identified: none or minimal (23%), moderate cyclic only (28%), severe cyclic only (20%), moderate or severe acyclic plus moderate cyclic (9%), and severe acyclic plus severe cyclic (21%). Endometriosis prevalence within these 5 LCA-pelvic pain-defined subgroups ranged in size from 4% in "none or minimal pelvic pain" to 24%, 72%, 70%, and 94%, respectively, in the 4 pain subgroups, with statistically significant odds of membership only for the latter 3 subgroups. Migraines were associated with significant odds of membership in all 4 pelvic pain subgroups relative to those with no pelvic pain (adjusted odds ratios = 2.92-7.78), whereas back, joint, or leg pain each had significantly greater odds of membership in the latter 3 subgroups. Asthma or allergies had three times the odds of membership in the most severe pain group. Subgroups with elevated levels of cyclic or acyclic pain are associated with greater frequency of chronic overlapping pain conditions, suggesting an important role for central inflammatory and immunological mechanisms.

2.
Plants (Basel) ; 13(7)2024 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-38611495

RESUMO

Hamelia patens (Rubiaceae), known as firebush, is a source of bioactive monoterpenoid oxindole alkaloids (MOAs) derived from monoterpenoid indole alkaloids (MIAs). With the aim of understanding the regulation of the biosynthesis of these specialized metabolites, micropropagated plants were elicited with jasmonic acid (JA) and salicylic acid (SA). The MOA production and MIA biosynthetic-related gene expression were evaluated over time. The production of MOAs was increased compared to the control up to 2-fold (41.3 mg g DW-1) at 72 h in JA-elicited plants and 2.5-fold (42.4 mg g DW-1) at 120 h in plants elicited with SA. The increment concurs with the increase in the expression levels of the genes HpaLAMT, HpaTDC, HpaSTR, HpaNPF2.9, HpaTHAS1, and HpaTHAS2. Interestingly, it was found that HpaSGD was downregulated in both treatments after 24 h but in the SA treatment at 120 h only was upregulated to 8-fold compared to the control. In this work, we present the results of MOA production in H. patens and discuss how JA and SA might be regulating the central biosynthetic steps that involve HpaSGD and HpaTHAS genes.

3.
Nat Commun ; 15(1): 3059, 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38637500

RESUMO

The 2023 monkeypox (mpox) epidemic was caused by a subclade IIb descendant of a monkeypox virus (MPXV) lineage traced back to Nigeria in 1971. Person-to-person transmission appears higher than for clade I or subclade IIa MPXV, possibly caused by genomic changes in subclade IIb MPXV. Key genomic changes could occur in the genome's low-complexity regions (LCRs), which are challenging to sequence and are often dismissed as uninformative. Here, using a combination of highly sensitive techniques, we determine a high-quality MPXV genome sequence of a representative of the current epidemic with LCRs resolved at unprecedented accuracy. This reveals significant variation in short tandem repeats within LCRs. We demonstrate that LCR entropy in the MPXV genome is significantly higher than that of single-nucleotide polymorphisms (SNPs) and that LCRs are not randomly distributed. In silico analyses indicate that expression, translation, stability, or function of MPXV orthologous poxvirus genes (OPGs), including OPG153, OPG204, and OPG208, could be affected in a manner consistent with the established "genomic accordion" evolutionary strategies of orthopoxviruses. We posit that genomic studies focusing on phenotypic MPXV differences should consider LCR variability.


Assuntos
Varíola dos Macacos , Orthopoxvirus , Poxviridae , Humanos , Vírus da Varíola dos Macacos/genética , Genômica , Varíola dos Macacos/genética
4.
J Integr Neurosci ; 23(3): 51, 2024 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-38538228

RESUMO

BACKGROUND: The flavonoid chrysin produces rapid and long-lasting anxiolytic- and antidepressant-like effects in rats. However, it is not known whether low and high doses of chrysin produce differential anti-immobility effects through the Gamma-Aminobutyric Acid sub-type A (GABAA) receptor. The goal of this work was therefore to compare low and high doses of chrysin for their effects on depression-like behavior in a longitudinal study. Moreover, chrysin was compared with the serotonergic fluoxetine and Gamma-Aminobutyric Acid (GABA)ergic allopregnanolone, and its involvement with the GABAA receptor after chronic treatment was also investigated. METHODS: Male Wistar rats were assigned to five groups (n = 8 each): vehicle, 1 mg/kg chrysin, 5 mg/kg chrysin, 1 mg/kg fluoxetine, and 1 mg/kg allopregnanolone. In the first experiment, treatments were injected daily and the effects on locomotor activity and the forced swim test were evaluated at 0, 1, 14, and 28 days of treatment, and 48 h after the final treatment. In the second experiment, similar groups were treated for 28 days with injection of 1 mg/kg picrotoxin to investigate the role of the GABAA receptor. Depending on the experimental design, one- and two-way analysis of variance (ANOVA) tests were used for statistical analysis, with p < 0.05 set as the criteria for significance. RESULTS: In both experiments, the treatments did not alter locomotor activity. However, low and high doses of chrysin, allopregnanolone, and fluoxetine gradually produced antidepressant-like effects in the forced swim test, and maintained this effect for 48 h post-treatment, except with low dose chrysin. Picrotoxin blocked the antidepressant-like effects produced by low dose chrysin, but did not affect those produced by high dose chrysin, allopregnanolone, or fluoxetine. CONCLUSIONS: The differential antidepressant-like effects caused by low and high doses of chrysin are time-dependent. Low dose chrysin produces a rapid antidepressant-like effect, whereas high dose chrysin produces a delayed but sustained the effect, even 48 h after withdrawal. The effect with high dose chrysin was similar to that observed with allopregnanolone and fluoxetine. The mechanism for the antidepressant-like effect of low chrysin appears to be GABAergic, whereas the effect of high dose chrysin may involve other neurotransmission and neuromodulation systems related to the serotonergic system.


Assuntos
Fluoxetina , Receptores de GABA-A , Ratos , Masculino , Animais , Fluoxetina/farmacologia , Pregnanolona , Ratos Wistar , Receptores de GABA , Picrotoxina , Estudos Longitudinais , Antidepressivos/farmacologia , Flavonoides/farmacologia , Ácido gama-Aminobutírico
6.
Crit Care ; 28(1): 91, 2024 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-38515193

RESUMO

BACKGROUND: Acute respiratory distress syndrome (ARDS) can be classified into sub-phenotypes according to different inflammatory/clinical status. Prognostic enrichment was achieved by grouping patients into hypoinflammatory or hyperinflammatory sub-phenotypes, even though the time of analysis may change the classification according to treatment response or disease evolution. We aimed to evaluate when patients can be clustered in more than 1 group, and how they may change the clustering of patients using data of baseline or day 3, and the prognosis of patients according to their evolution by changing or not the cluster. METHODS: Multicenter, observational prospective, and retrospective study of patients admitted due to ARDS related to COVID-19 infection in Spain. Patients were grouped according to a clustering mixed-type data algorithm (k-prototypes) using continuous and categorical readily available variables at baseline and day 3. RESULTS: Of 6205 patients, 3743 (60%) were included in the study. According to silhouette analysis, patients were grouped in two clusters. At baseline, 1402 (37%) patients were included in cluster 1 and 2341(63%) in cluster 2. On day 3, 1557(42%) patients were included in cluster 1 and 2086 (57%) in cluster 2. The patients included in cluster 2 were older and more frequently hypertensive and had a higher prevalence of shock, organ dysfunction, inflammatory biomarkers, and worst respiratory indexes at both time points. The 90-day mortality was higher in cluster 2 at both clustering processes (43.8% [n = 1025] versus 27.3% [n = 383] at baseline, and 49% [n = 1023] versus 20.6% [n = 321] on day 3). Four hundred and fifty-eight (33%) patients clustered in the first group were clustered in the second group on day 3. In contrast, 638 (27%) patients clustered in the second group were clustered in the first group on day 3. CONCLUSIONS: During the first days, patients can be clustered into two groups and the process of clustering patients may change as they continue to evolve. This means that despite a vast majority of patients remaining in the same cluster, a minority reaching 33% of patients analyzed may be re-categorized into different clusters based on their progress. Such changes can significantly impact their prognosis.


Assuntos
COVID-19 , Síndrome do Desconforto Respiratório , Humanos , Análise por Conglomerados , Unidades de Terapia Intensiva , Estudos Prospectivos , Síndrome do Desconforto Respiratório/terapia , Estudos Retrospectivos
7.
Arch Cardiol Mex ; 2024 Mar 13.
Artigo em Espanhol | MEDLINE | ID: mdl-38478992

RESUMO

Aneurysms are clinical entities that can develop and affect human aorta; and although in most cases they have an asymptomatic course, these pathological dilatations can lead to a lethal outcome when rupture occurs, thus the establishment of predictors is crucial for death prevention. Essential events that take place in the vessel wall have been identified and described, such as inflammation, proteolysis, smooth muscle cell apoptosis, angiogenesis, and vascular remodeling. Porcine and ovine models have been useful for the development and evaluation of endovascular devices of the aorta. However, since the worldwide introduction and adoption of these minimally invasive techniques for aneurysm repair, there is lesser availability of diseased aortic tissue for molecular, cellular, and histopathological analysis, therefore over the last three decades it has been proposed various small species models that have allowed the focal induction of these lesions for the study of physiopathological mechanisms and possible useful biomarkers as diagnostic and therapeutic targets. The present review article presents and discusses the animal models available as their applications, characteristics, advantages, and limitations for the development of preclinical studies, and their importance in the comprehension of this pathology in humans.


Los aneurismas son una de las entidades clínicas que pueden desarrollarse y afectar la aorta humana. Aunque en la mayoría de los casos tienen un carácter asintomático, estas dilataciones patológicas pueden resultar letales cuando se presentan con ruptura, por lo que el reconocimiento de factores predictores de esta complicación es crucial para evitar muertes. Fisiopatológicamente se han identificado eventos esenciales que ocurren en la pared del vaso, como inflamación, proteólisis, apoptosis del músculo liso, angiogénesis y remodelación. Las grandes especies como porcinos y ovinos han sido de utilidad para el desarrollo y evaluación del desempeño de dispositivos endovasculares en la aorta, así como la remodelación; con el advenimiento y disposición de estas técnicas mínimamente invasivas para su reparación existe una menor disponibilidad de tejido aórtico para el análisis molecular, celular e histopatológico, por lo que en las últimas tres décadas se han propuesto e introducido distintos modelos que han permitido, mediante la inducción focal de estas lesiones, el estudio de los mecanismos fisiopatológicos y posibles biomarcadores de utilidad como dianas diagnósticas y terapéuticas. El presente artículo de revisión aborda tipos de modelos animales disponibles, así como sus aplicaciones, consideraciones, ventajas y limitaciones para el desarrollo de estudios preclínicos y su importancia en el entendimiento de esta patología en la especie humana.

8.
Diagnostics (Basel) ; 14(5)2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38473020

RESUMO

Fetal growth restriction (FGR) can result in adverse perinatal outcomes due to cardiac dysfunction. This study used 2D speckle-tracking echocardiography to assess left ventricle (LV) longitudinal strain across FGR severity stages. A prospective longitudinal cohort study measured global (GLS) and segmental LV longitudinal strain in FGR fetuses, with evaluations conducted at various time points. FGR was classified into subtypes based on published criteria using fetal weight centile and Doppler parameters. A linear mixed model was employed to analyze repeated measures and compare Z-score measurements between groups throughout gestational age. The study included 40 FGR fetuses and a total of 107 evaluations were performed: 21 from small for gestational age (SGA), 74 from the FGR stage I, and 12 from the FGR stage ≥ II. The results indicate that SGA and stage I FGR fetuses exhibit higher LV GLS than stages ≥ II. Throughout gestation, SGA and FGR stage I fetuses showed similar behavior with consistently better LV GLS values when compared to FGR stages ≥ II. No significant differences were observed in LV GLS strain behavior between SGA and FGR stage I. In conclusion, all FGRs show signs of early cardiac dysfunction, with severe cases demonstrating significantly a lower LV GLS when compared to mild cases, suggesting deterioration of cardiac dysfunction with progression of fetal compromise.

9.
Sci Rep ; 14(1): 3789, 2024 02 15.
Artigo em Inglês | MEDLINE | ID: mdl-38360855

RESUMO

Post-COVID-19 interstitial lung disease (ILD) is a new entity that frequently causes pulmonary fibrosis and can become chronic. We performed a single-center parallel-group open-label pilot randomized clinical trial to investigate the efficacy and safety of cyclosporine A (CsA) in the development of ILD in the medium term among patients hospitalized with COVID-19 pneumonia. Patients were randomized 1:1 to receive CsA plus standard of care or standard of care alone. The primary composite outcome was the percentage of patients without ILD 3 months after diagnosis of pneumonia and not requiring invasive mechanical ventilation (IMV) (response without requiring IMV). The key secondary composite outcomes were the percentage of patients who achieve a response requiring IMV or irrespective of the need for IMV, and adverse events. A total of 33 patients received at least one dose of CsA plus standard of care (n = 17) or standard of care alone (n = 16). No differences were found between the groups in the percentage of patients who achieved a response without requiring IMV or a response requiring IMV. A higher percentage of patients achieved a response irrespective of the need for IMV in the CsA plus standard of care group although the RR was almost significant 2.833 (95% CI, 0.908-8.840; p = 0.057). No differences were found between the groups for adverse events. In hospitalized patients with COVID-19 pneumonia, we were unable to demonstrate that CsA achieved a significant effect in preventing the development of ILD. (EU Clinical Trials Register; EudraCT Number: 2020-002123-11; registration date: 08/05/2020).


Assuntos
COVID-19 , Doenças Pulmonares Intersticiais , Humanos , Ciclosporina/efeitos adversos , SARS-CoV-2 , Projetos Piloto , Doenças Pulmonares Intersticiais/tratamento farmacológico
12.
Pediatr Res ; 95(1): 308-315, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37735232

RESUMO

BACKGROUND: Traditional methods for predicting adult height (AHP) rely on manual readings of bone age (BA). However, the incorporation of artificial intelligence has recently improved the accuracy of BA readings and their incorporation into AHP models. METHODS: This study aimed to identify the AHP model that fits the current average height for adults in Mexico. Using a cross-sectional design, the study included 1173 participants (5-18 yr). BA readings were done by two experts (manually) and with an automated method (BoneXpert®). AHP was carried out using both traditional and automated methods. The best AHP model was the one that was closest to the population mean. RESULTS: All models overestimated the population mean (males: 0.7-6.7 cm, females: 0.9-3.7 cm). The AHP models with the smallest difference were BoneXpert for males and Bayley & Pinneau for females. However, the manual readings of BA showed significant interobserver variability (up to 43% of predictions between observers exceeded 5 cm using the Bayley & Pinneau method). CONCLUSION: Traditional AHP models relying on manual BA readings have high interobserver variability. Therefore, BoneXpert is the most reliable option, reducing such variability and providing AHP models that remain close to the mean population height. IMPACT: Traditional models for predicting adult height often result in overestimated height predictions. The manual reading of bone age is prone to interobserver variability, which can introduce significant biases in the prediction of adult height. The BoneXpert method minimizes the variability associated with traditional methods and demonstrates consistent results in relation to the average height of the population. This study is the first to assess adult height prediction models specifically in the current generations of Mexican children.


Assuntos
Determinação da Idade pelo Esqueleto , Inteligência Artificial , Masculino , Criança , Adulto , Feminino , Humanos , Estudos Transversais , Determinação da Idade pelo Esqueleto/métodos , Estatura , México
13.
Appetite ; 192: 107087, 2024 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-37865297

RESUMO

The purpose of this study was to summarize the evidence from studies conducted on adolescents, evaluating educational nutrition interventions for the modification of food consumption through controlled trials based on behavior change theories or models and implemented in school settings. A systematic search was carried out through PubMed and ERIC databases between November and December 2020, and updated in February 2023; English-language keywords were used, and no publication date limits were applied. Two authors independently performed the search, data extraction, data synthesis and risk of bias assessment. Twelve studies meeting the inclusion criteria were included. The interventions were based on different theories; the most used was the Social Cognitive Theory. Eleven of the twelve studies showed favorable modifications in the consumption of at least two of the food groups. Most studies were at low risk of bias, and only one was classified as high risk. It is concluded that educational nutrition interventions based on behavior change theories/models and implemented in the school setting influence positive changes in adolescents eating behavior.


Assuntos
Ciências da Nutrição Infantil , Instituições Acadêmicas , Adolescente , Humanos , Ciências da Nutrição Infantil/educação
14.
Viruses ; 15(12)2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38140614

RESUMO

West Nile Virus (WNV) is a mosquito vector-borne zoonosis with an increasing incidence in Europe that has become a public health concern. In Spain, although local circulation has been known for decades, until 2020, when a large outbreak occurred, West Nile Virus cases were scarce and mostly occurred in southern Spain. Since then, there have been new cases every year and the pathogen has spread to new regions. Thus, monitoring of circulating variants and lineages plays a fundamental role in understanding WNV evolution, spread and dynamics. In this study, we sequenced WNV consensus genomes from mosquito pools captured in 2022 as part of a newly implemented surveillance program in southern Spain and compared it to other European, African and Spanish sequences. Characterization of WNV genomes in mosquitoes captured in 2022 reveals the co-circulation of two WNV lineage 1 variants, the one that caused the outbreak in 2020 and another variant that is closely related to variants reported in Spain in 2012, France in 2015, Italy in 2021-2022 and Senegal in 2012-2018. The geographic distribution of these variants indicates that WNV L1 dynamics in southern Europe include an alternating dominance of variants in some territories.


Assuntos
Culicidae , Febre do Nilo Ocidental , Vírus do Nilo Ocidental , Animais , Humanos , Vírus do Nilo Ocidental/genética , Febre do Nilo Ocidental/epidemiologia , Espanha/epidemiologia , Europa (Continente)/epidemiologia
15.
Rev. chil. infectol ; 40(6)dic. 2023.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1529991

RESUMO

Introducción: La seroprevalencia del SARS-CoV-2 en las enfermedades inflamatorias inmunomediadas (IMID) sigue siendo fuente de controversia. Objetivo: Comparar la seroprevalencia de anticuerpos (Ac) anti SARS-CoV-2 en pacientes con IMID en tratamientos con fármacos antirreumáticos modificadores de la enfermedad biológicos (FAMEb) o sintéticos dirigidos (FAMEsd) frente a un grupo de personas sin IMID. Métodos: Estudio de pacientes con IMID y tratamientos con FAMEb y FAMEsd y de individuos sin IMID. Mediante la técnica de inmunoensayo por quimioluminiscencia indirecta, se determinaron las serologías IgG frente al SARS-CoV-2 entre octubre/2020 y mayo/2021. Resultados: Se estudiaron 1.100 sujetos, 550 pacientes con IMID y 550 personas sin IMID. Se observó una seroprevalencia de 16% (88/550) en los pacientes frente a 19,3% (106/550) en el grupo de personas sin IMID, sin significación estadística (OR 0,790 [IC 95% 0,558-1,118]). Comparando los tratamientos con FAMEb o FAMEsd, se observó una tendencia a una menor seroprevalencia con rituximab, en relación con los individuos sin IMID (OR 0,296 [IC 95% 0,0871,007]). Asimismo, se encontró menor seroprevalencia en los pacientes que además de su FAMEb recibían tratamiento con metotrexato, en comparación con el grupo de personas sin IMID (OR 0,432 [IC 95% 0,223-0,835]). Conclusiones: Las IMID en tratamiento con FAMEb o FAMEsd no influyen en la seroprevalencia frente al SARS-CoV-2 de los pacientes. El tratamiento concomitante con metotrexato disminuye de forma significativa la seroprevalencia en estos pacientes.


Background: The seroprevalence of SARS-CoV-2 in immunemediated inflammatory diseases (IMID) remains controversial. Aim: To compare the seroprevalence of antibodies (Ab) to SARS-CoV-2 in patients with IMID receiving treatment with biological diseasemodifying antirheumatic drugs (bDMARD) or targeted synthetic (tsDMARD) versus a group of people without IMID. Methods: Study of patients with IMID and treatments with bDMARD and tsDMARD and individuals without IMID. IgG serology against SARS-CoV-2 was measured using the two-step sandwich immunoassay technique by indirect chemiluminescence between October 2020 and May 2021. Results: A total of 1100 subjects were studied, 550 patients with IMID and 550 persons without IMID. A seroprevalence of 16% (88/550) was observed in patients versus 19.3% (106/550) in the group of people without IMID, without statistical significance (OR 0.790 [95% CI 0.558-1.118]). Comparing the treatments with bD- MARD or tsDMARD, there was a tendency to lower seroprevalence with rituximab, in relation to individuals without IMID (OR 0.296 [95% CI 0.087-1.007]). In addition, lower seroprevalence was found in patients who received methotrexate treatment in addition to their bDMARD, compared to the group of individuals without IMID (OR 0.432 [95% CI 0.223-0.835]). Conclusions: IMIDs in treatment with bDMARDs or tsDMARDs do not influence the seroprevalence against SARS-CoV-2 in patients. Concomitant treatment with methotrexate significantly decreased seroprevalence in these patients.

16.
Euro Surveill ; 28(45)2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37943504

RESUMO

BackgroundVarious pathogens, including bacteria, fungi, parasites, and viruses can lead to meningitis. Among viruses causing meningitis, Toscana virus (TOSV), a phlebovirus, is transmitted through sandfly bites. TOSV infection may be suspected if patients with enterovirus- and herpesvirus-negative aseptic (non-bacterial) meningitis recall recent insect bites. Other epidemiological factors (season, rural area) may be considered. The broad range of possible meningitis aetiologies poses considerable diagnosis challenges. Untargeted metagenomic next-generation sequencing (mNGS) can potentially identify pathogens, which are not considered or detected in routine diagnostic panels.AimIn this retrospective, single-centre observational study, we investigated mNGS usefulness to understand the cause of meningitis when conventional approaches fail.MethodsCerebrospinal fluid (CSF) samples from patients hospitalised in southern Spain in 2015-2019 with aseptic meningitis and no aetiology found by conventional testing, were subjected to mNGS. Patients' demographic characteristics had been recorded and physicians had asked them about recent insect bites. Obtained viral genome sequences were phylogenetically analysed.ResultsAmong 23 idiopathic cases, TOSV was identified in eight (all male; median age: 39 years, range: 15-78 years). Five cases lived in an urban setting, three occurred in autumn and only one recalled insect bites. Phylogenetic analysis of TOSV segment sequences supported one intra-genotype reassortment event.ConclusionsOur study highlights the usefulness of mNGS for identifying viral pathogens directly in CSF. In southern Spain, TOSV should be considered regardless of recalling of insect bites or other epidemiological criteria. Detection of a disease-associated reassortant TOSV emphasises the importance of monitoring the spread and evolution of phleboviruses in Mediterranean countries.


Assuntos
Mordeduras e Picadas de Insetos , Meningite , Vírus da Febre do Flebótomo Napolitano , Humanos , Masculino , Adulto , Vírus da Febre do Flebótomo Napolitano/genética , Filogenia , Estudos Retrospectivos , Espanha/epidemiologia
17.
Int J Mol Sci ; 24(21)2023 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-37958660

RESUMO

High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds -6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance.


Assuntos
Miopia , Criança , Humanos , Sequenciamento do Exoma , Miopia/genética
18.
J Med Virol ; 95(11): e29240, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37971716

RESUMO

To evaluate molecular assays for Mpox diagnosis available in various clinical microbiology services in Spain through a quality control (QC) approach. A total of 14 centers from across Spain participated in the study. The Reference Laboratory dispatched eight serum samples and eight nucleic acid extracts to each participating center. Some samples were spiked with Mpox or Vaccinia virus to mimic positive samples for Mpox or other orthopox viruses. Participating centers provided information on the results obtained, as well as the laboratory methods used. Among the 14 participating centers seven different commercial assays were employed, with the most commonly used kit being LightMix Modular Orthopox/Monkeypox (Mpox) Virus (Roche®). Of the 12 centers conducting Mpox determinations, concordance ranged from 62.5% (n = 1) to 100% (n = 11) for eluates and from 75.0% (n = 1) to 100% (n = 10) for serum. Among the 10 centers performing Orthopoxvirus determinations, a 100% concordance was observed for eluates, while for serum, concordance ranged from 87.5% (n = 6) to 100% (n = 4). Repeatedly, 6 different centers reported a false negative in serum samples for Orthopoxvirus diagnosis, particularly in a sample with borderline Ct = 39. Conversely, one center, using the TaqMan™ Mpox Virus Microbe Detection Assay (Thermo Fisher), reported false positives in Mpox diagnosis for samples spiked with vaccinia virus due to cross-reactions. We observed a positive correlation of various diagnostic assays for Mpox used by the participating centers with the reference values. Our results highlight the significance of standardization, validation, and ongoing QC in the microbiological diagnosis of infectious diseases, which might be particularly relevant for emerging viruses.


Assuntos
Orthopoxvirus , Humanos , Vírus da Varíola dos Macacos/genética , Reação em Cadeia da Polimerase , Controle de Qualidade , Vírus Vaccinia/genética , DNA
19.
Rev Esp Enferm Dig ; 2023 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-37929944

RESUMO

We present the case of a 22-year-old woman with cesarean section 11 days before with abdominal pain in the left flank of one week of evolution associated with self-limited liquid stools. In the analytical control, leukocytes at the expense of neutrophils, as well as CRP 147 gr/L were highlighted. An abdominal CT scan was requested without contrast iv, which showed inflammatory changes in the pericolonic fat adjacent to the descending colon associated with concentric mural thickening with oval lesion. Due to the characteristics of the patient continuing with abdominal pain and the CT findings, abdominal MRI was requested in which concentric mural thickening of a segment of descending colon with longitudinal diameter of approximately 6 cm, associated with infiltration-rarefaction of the pericolonic fat, and cystic image that protrudes on the left lateral wall of the colon of approximately 3.7x5 cm was observed.

20.
Med. clín (Ed. impr.) ; 161(10): 422-428, nov. 2023. ilus, tab, graf
Artigo em Inglês | IBECS | ID: ibc-227672

RESUMO

Background and objectives The results of previous PET-CT studies are contradictory for discriminating malignant from benign pleural effusions. We purpose to develop a PET-CT score for differentiating between benign and malignant effusions. Patients and methods We conducted a prospective study of consecutive patients with pleural effusions undergoing PET-CT from October 2013 to October 2019 (referral cohort). PET-CT scan features evaluated using the SUV were: linear thickening; nodular thickening; nodules; masses; circumferential thickening; mediastinal and fissural pleural involvement; intrathoracic lymph nodes; pleural loculation; inflammatory consolidation; pleural calcification; cardiomegaly; pericardial effusion; bilateral effusion; lung mass; liver metastasis and other extra-pleural malignancy. The results were validated in an independent prospective cohort from November 2019 to June 2021. Results One hundred and ninety-nine patients were enrolled in the referral cohort (91 with malignant effusions and 108 benign). The most useful parameters for the development of a PET-CT score were: nodular pleural thickening, pleural nodules with SUV>7.5, lung mass or extra pleural malignancy (10 points each), mammary lymph node with SUV>4.5 (5 points) and cardiomegaly (−1 point). With a cut-off value of >9 points in the referral cohort, the score established the diagnosis of malignant pleural effusion with sensitivity 87.9%, specificity 90.7%, positive predictive value 88.9%, negative predictive value 89.9%, positive likelihood ratio 7.81 and negative likelihood ratio 0.106. These results were validated in an independent prospective cohort of 75 patients. Conclusions PET-CT score was shown to provide relevant information for the identification of malignant pleural effusion (AU)


Antecedentes y objetivos Los estudios PET-TAC previos en el análisis del derrame pleural son contradictorios. Nuestro objetivo es desarrollar una puntuación mediante PET-TAC para diferenciar entre derrames benignos y malignos. Pacientes y métodos Estudio prospectivo en pacientes con derrame pleural a los que se realizó una PET-TAC desde octubre de 2013 hasta octubre de 2019 (cohorte de referencia). Los datos analizados fueron: engrosamiento lineal; engrosamiento nodular; nódulos; masas; engrosamiento circunferencial; afectación pleural mediastínica y cisural; ganglios linfáticos torácicos; loculación pleural; consolidación; calcificación pleural; cardiomegalia; derrame pericárdico; derrame bilateral; masa pulmonar; metástasis hepáticas y otras neoplasias malignas extrapleurales. Se calculó el SUV de todos estos parámetros. Los resultados se validaron en una cohorte independiente. Resultados Se incluyó a 199 pacientes en la cohorte de referencia (91 derrames malignos y 108 benignos). Los parámetros que mostraron más utilidad para discriminar ambos derrames y desarrollar una puntuación fueron: engrosamiento pleural nodular, nódulos pleurales con SUV > 7,5, masa pulmonar o malignidad extrapleural (10 puntos cada uno), ganglio en cadena mamaria con SUV > 4,5 (5 puntos) y cardiomegalia (–1 punto). Con un punto de corte > 9 en la cohorte de derivación, se estableció el diagnóstico de derrame pleural maligno con una sensibilidad del 87,9%, especificidad del 90,7%, valor predictivo positivo del 88,9%, valor predictivo negativo del 89,9% razón de verosimilitud positiva del 7,81 y razón de verosimilitud negativa del 0,106. Estos resultados fueron validados en una cohorte prospectiva independiente de 75 pacientes. Conclusiones Una puntuación basada en PET-TAC proporciona información relevante para el diagnóstico del derrame pleural maligno (AU)


Assuntos
Humanos , Derrame Pleural/diagnóstico por imagem , Derrame Pleural Maligno/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Sensibilidade e Especificidade , Diagnóstico Diferencial , Fluordesoxiglucose F18 , Estudos Prospectivos
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