Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 748
Filtrar
2.
J Med Microbiol ; 73(4)2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38591530

RESUMEN

Sexually transmitted infections (STI) are a public health problem. Real-time PCR assays are the most sensitive test for screening and diagnosis of these infections. The aim of this study was to evaluate a new CT/NG/TV/MG Real-Time PCR (RT-PCR) kit (Vircell) for the detection of Chamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium and Trichomonas vaginalis for the diagnosis of sexual transmitted infections using the Allplex STI Essential Assay (Seegene) as the reference's method. A total of 497 samples from different anatomical sites (endocervical, urethral, rectal, pharyngeal and urine) were analysed from October 2022 to February 2023. A total of 108 (21.73 %) and 106 (21.33 %) positive samples were found for any of the assays used. The most commonly detected pathogen was N. gonorrhoeae (52 samples; 10.46 %), and the least commonly detected was T. vaginalis (three samples; 0.60 %). The anatomical site with the highest prevalence of micro-organisms was a non-urogenital site, the pharynx (26 positive samples; 5.23 %). Using the Allplex STI Essential Assay (Seegene) as the reference method, the diagnosis performance showed that the average specificity of CT/NG/TV/MG RT-PCR Kit (Vircell) was 99.84 % and the sensitivity was 99.53 %. The overall concordance was k=0.98 (CI95 %; 0.96-1). In conclusion, the CT/NG/TV/MG RT-PCR Kit (Vircell) assay shows a good sensitivity and specificity and constitutes a promising and additional alternative to routine procedures for distinct types of clinical specimen in diagnosis STI.


Asunto(s)
Infecciones por Chlamydia , Gonorrea , Infecciones por Mycoplasma , Mycoplasma genitalium , Enfermedades de Transmisión Sexual , Trichomonas vaginalis , Humanos , Reacción en Cadena en Tiempo Real de la Polimerasa , Chlamydia trachomatis/genética , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/epidemiología , Trichomonas vaginalis/genética , Neisseria gonorrhoeae/genética , Mycoplasma genitalium/genética , Infecciones por Mycoplasma/diagnóstico , Infecciones por Mycoplasma/epidemiología , Tomografía Computarizada por Rayos X , Infecciones por Chlamydia/diagnóstico , Gonorrea/diagnóstico , Gonorrea/epidemiología
3.
Talanta ; 273: 125826, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38479028

RESUMEN

Primary Open-Angle Glaucoma (POAG) is the most prevalent glaucoma type, and the leading cause of irreversible visual impairment and blindness worldwide. Identification of early POAG biomarkers is of enormous value, as there is not an effective treatment for the glaucomatous optic nerve degeneration (OND). In this pilot study, a metabolomic analysis, by using proton (1H) nuclear magnetic resonance (NMR) spectroscopy was conducted in tears, in order to determine the changes of specific metabolites in the initial glaucoma eyes and to discover potential diagnostic biomarkers. A classification model, based on the metabolomic fingerprint in tears was generated as a non-invasive tool to support the preclinical and clinical POAG diagnosis. 1H NMR spectra were acquired from 30 tear samples corresponding to the POAG group (n = 11) and the control group (n = 19). Data were analysed by multivariate statistics (partial least squares-discriminant analysis: PLS-DA) to determine a model capable of differentiating between groups. The whole data set was split into calibration (65%)/validation (35%), to test the performance and the ability for glaucoma discrimination. The calculated PLS-DA model showed an area under the curve (AUC) of 1, as well as a sensitivity of 100% and a specificity of 83.3% to distinguish POAG group versus control group tear data. This model included 11 metabolites, potential biomarkers of the disease. When comparing the study groups, a decrease in the tear concentration of phenylalanine, phenylacetate, leucine, n-acetylated compounds, formic acid, and uridine, was found in the POAG group. Moreover, an increase in the tear concentration of taurine, glycine, urea, glucose, and unsaturated fatty acids was observed in the POAG group. These results highlight the potential of tear metabolomics by 1H NMR spectroscopy as a non-invasive approach to support early POAG diagnosis and in order to prevent visual loss.


Asunto(s)
Glaucoma de Ángulo Abierto , Humanos , Glaucoma de Ángulo Abierto/diagnóstico , Glaucoma de Ángulo Abierto/metabolismo , Glaucoma de Ángulo Abierto/patología , Proyectos Piloto , Metabolómica , Biomarcadores , Taurina
4.
Dig Liver Dis ; 56(3): 468-476, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37770282

RESUMEN

BACKGROUND AND AIMS: Hepatitis C virus (HCV) management in Inflammatory Bowel Disease (IBD) is uncertain. The ECCO guidelines 2021 recommended HCV treatment but warn about the risk of IBD reactivation. We aimed to evaluate 1) the effectiveness and safety of direct-acting antivirals (DAAs) in IBD; 2) the interaction of DAAs with IBD drugs. METHODS: Multicentre study of IBD patients and HCV treated with DAAs. Variables related to liver diseases and IBD, as well as adverse events (AEs) and drug interactions, were recorded. McNemar's test was used to assess differences in the proportion of active IBD during the study period. RESULTS: We included 79 patients with IBD and HCV treated with DAAs from 25,998 IBD patients of the ENEIDA registry. Thirty-one (39.2 %) received immunomodulators/biologics. There were no significant differences in the percentage of active IBD at the beginning (n = 11, 13.9 %) or at the 12-week follow-up after DAAs (n = 15, 19 %) (p = 0.424). Sustained viral response occurred in 96.2 % (n = 76). A total of 8 (10.1 %) AEs occurred and these were unrelated to activity, type of IBD, liver fibrosis, immunosuppressants/biologics, and DAAs. CONCLUSIONS: We demonstrate a high efficacy and safety of DAAs in patients with IBD and HCV irrespective of activity and treatment of IBD.


Asunto(s)
Productos Biológicos , Hepatitis C Crónica , Hepatitis C , Enfermedades Inflamatorias del Intestino , Humanos , Antivirales/efectos adversos , Hepacivirus/genética , Hepatitis C Crónica/complicaciones , Hepatitis C Crónica/tratamiento farmacológico , Hepatitis C/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/complicaciones , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Productos Biológicos/uso terapéutico
5.
Arch Soc Esp Oftalmol (Engl Ed) ; 99(3): 109-132, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37949110

RESUMEN

With the advance of cancer therapy in recent years, the knowledge of the mechanisms involved in this disease has increased, which has meant an increase in the quality of life and survival of patients with tumor pathologies previously considered incurable or refractory to treatment. The number of drugs used has increased exponentially in number, and although the implicit toxicity is lower than that of conventional antineoplastic therapy, they lead to the appearance of new associated adverse effects that the ophthalmologist must recognize and manage.


Asunto(s)
Oftalmólogos , Calidad de Vida , Humanos , Ojo , Cara
6.
Vasc Endovascular Surg ; 58(2): 129-135, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37450890

RESUMEN

OBJECTIVE: Endovascular aortic repair (EVAR) for elective and emergency infrarenal aortic pathologies is the primary approach for treatment nowadays. During such procedure, the suture-mediated closure device (SMCD) (Perclose ProGlideTM, Abbott Laboratories, Chicago, IL, USA) is commonly used. This study aimed to identify potential contributors for SMCD failure in a patient cohort of elective and emergency EVAR. METHODS: Archived medical records from patients who underwent EVAR for aortic pathologies in elective and emergency setting at the University Hospital Düsseldorf, Germany were included. Patient's co-morbidities, access vessel morphologies and hemostasis-related blood parameters were evaluated on their association with SMCD failure applying different statistical methods. RESULTS: A total of 71 patients (139 femoral accesses) was included. The mean age was 73.5 ± 8.4 years. Overall SMCD failure rate was 4.3%, 4.1% for elective and 5.9% for emergency cases, respectively. Total procedure time was longer for the SMCD failure group (323 ± 117.8 min vs 171 ± 43.7 min). The calcification status of the common femoral artery (CFA), the diameter of the aortic bifurcation, and dual anti-platelet therapy (DAPT) on the medication plan prior to the procedure were associated with SMCD failure. Univariate binary logistic regression analysis nominated several potentially relevant predictors for SMCD failure who underwent subsequent multivariable binary logistic regression analysis. Here, DAPT on the medication plan was identified as being promising in predicting SMCD failure (OR 30.5), while anterior plaque formation in the CFA maintained as only statistically relevant determinant (OR 44.9). CONCLUSIONS: This study confirms the CFA calcification status to be associated with SMCD failure. Although discontinued prior to endovascular treatment, DAPT was also found to be associated with SMCD failure. Our results may advocate to perform obligatory platelet testing prior to EVAR to maximize patient safety.


Asunto(s)
Aneurisma de la Aorta Abdominal , Implantación de Prótesis Vascular , Procedimientos Endovasculares , Humanos , Anciano , Anciano de 80 o más Años , Reparación Endovascular de Aneurismas , Inhibidores de Agregación Plaquetaria , Resultado del Tratamiento , Aorta Abdominal , Falla de Equipo , Suturas , Aneurisma de la Aorta Abdominal/cirugía , Estudios Retrospectivos , Implantación de Prótesis Vascular/efectos adversos , Arteria Femoral/diagnóstico por imagen , Arteria Femoral/cirugía , Factores de Riesgo
7.
Rehabilitacion (Madr) ; 58(1): 100818, 2024.
Artículo en Español | MEDLINE | ID: mdl-37890425

RESUMEN

INTRODUCTION: To assess whether, in patients with distal radius fracture feedback-guided exercises performed on a tablet touchscreen reduce healthcare usage and improve clinical recovery, more than the conventional home exercise program prescribed on paper. MATERIAL AND METHODS: A multicentre, parallel, two-group, pragmatic, controlled trial with assessor blinding and intention-to-treat analysis. Forty-six patients with distal radius fracture were recruited in Andalusian Public Health System. Participants in the experimental and control groups received the same in-patient physiotherapy sessions. Experimental group received a home exercise program using the ReHand tablet application and control group received an evidence-based home exercise program on paper. The primary outcome was the number of physiotherapy sessions tallied from hospitals data management system. Secondary outcomes included: the face-to-face rehabilitation consultations with a physiatrist, and clinical outcomes such as functional ability, grip strength, dexterity, pain intensity and range of motion. RESULTS: The experimental group required fewer physiotherapy sessions (MD: -16.94; 95%CI: -32.5 to -1.38) and rehabilitation consultations (MD: -1.7; 95%CI: -3.39 to -0.02) compared to the control group. CONCLUSIONS: In patients with distal radius fracture, prescribing feedback-guided exercises performed on a tablet touchscreen provided by ReHand reduced number of physiotherapy sessions and rehabilitation consultations.


Asunto(s)
Telerrehabilitación , Fracturas de la Muñeca , Humanos , Terapia por Ejercicio , Modalidades de Fisioterapia , Fuerza de la Mano
8.
Rehabilitacion (Madr) ; 58(1): 100822, 2024.
Artículo en Español | MEDLINE | ID: mdl-37864963

RESUMEN

Carpal tunnel syndrome (CTS) is the most common entrapment mononeuropathy; the diagnosis is established by electrodiagnostic tests with until 34% of false positives/negatives. We present the following systematic review which objective is to analyze the most recent literature related to the ultrasound parameters described to study CTS. We selected studies that evaluated ultrasound parameters in patients with clinical suspicion following the Cochrane manual's recommendations. We include systematic reviews, meta-analyses, case-control studies and diagnostic tests, evaluating retrospective studies and bibliographic reviews with proper methodological quality. Articles published between 2005 and 2019. We included eight articles (two systematic reviews/meta-analyses, two case-control studies, one diagnostic test study, two literature reviews, and one retrospective). The parameters analyzed were cross-sectional area, wrist-forearm index, entry-exit index, thinning range, palmar bowing of the flexor retinaculum, and vascularity/mobility. Current evidence allows us to affirm that ultrasound is useful in screening for CTS.


Asunto(s)
Síndrome del Túnel Carpiano , Humanos , Síndrome del Túnel Carpiano/diagnóstico por imagen , Nervio Mediano/diagnóstico por imagen , Estudios Retrospectivos , Sensibilidad y Especificidad , Ultrasonografía
9.
Fetal Diagn Ther ; 51(1): 76-84, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37812923

RESUMEN

INTRODUCTION: Fetal anemia from hemolytic disease treated by intrauterine transfusion (IUT) can be performed by intraperitoneal, intracardiac, and intravascular transfusion (IVT). Objective of our study was to compare different transfusion techniques. METHODS: Retrospective review of IUT secondary to red cell alloimmunization was conducted at eight international centers from 2012 to 2020. Severe anemia suspected if middle cerebral artery peaks systolic velocity ≥1.5 multiples of the median. Demographic, delivery, and postnatal variables were analyzed. RESULTS: Total of 344 procedures, 325 IVT and 19 other techniques (non-IVT) included. No difference in demographics, history of stillbirth (20.5 vs. 15.8%, p = 0.7), prior pregnancy IUT (25.6 vs. 31.6%, p = 0.5) or neonatal transfusion (36.1 vs. 43.8%, p = 0.5). At first IUT, non-IVT had higher hydrops (42.1% vs. 20.4%, p = 0.03), lower starting hematocrit (13.3% [±6] vs. 17.7% [±8.2], p = 0.04), and trend toward lower gestational age (24.6 [20.1-27] vs. 26.4 [23.2-29.6] weeks, p = 0.08). No difference in birthweight, neonatal phototherapy, exchange, or simple transfusion was observed. CONCLUSION: This is one of the largest studies comparing techniques to treat fetal anemia. IVT was most performed, other techniques were more likely performed in hydrops, and lower starting hematocrit was seen. Neither technique affected outcomes. This study may suggest that physician's experience may be the strongest contributor of outcomes.


Asunto(s)
Anemia , Enfermedades Fetales , Isoinmunización Rh , Embarazo , Recién Nacido , Femenino , Humanos , Transfusión de Sangre Intrauterina/métodos , Enfermedades Fetales/terapia , Anemia/terapia , Estudios Retrospectivos , Edema , Sangre Fetal
10.
Sci Rep ; 13(1): 19552, 2023 11 09.
Artículo en Inglés | MEDLINE | ID: mdl-37945711

RESUMEN

The signal transducer and activator of transcription 3 (STAT3) is a transcription factor mainly activated by phosphorylation in either tyrosine 705 (Y705) or serine 727 (S727) residues that regulates essential processes such as cell differentiation, apoptosis inhibition, or cell survival. Aberrant activation of STAT3 has been related to development of nearly 50% of human cancers including clear cell renal cell carcinoma (ccRCC). In fact, phosho-S727 (pS727) levels correlate with overall survival of ccRCC patients. With the aim to elucidate the contribution of STAT3 phosphorylation in ccRCC development and progression, we have generated human-derived ccRCC cell lines carrying STAT3 Y705 and S727 phosphomutants. Our data show that the phosphomimetic substitution Ser727Asp facilitates a pro-tumoral phenotype in vitro, in a Y705-phosphorylation-independent manner. Moreover, we describe that STAT3 phosphorylation state determines the expression of different subsets of target genes associated with distinct biological processes, being pS727-dependent genes the most related to cellular hallmarks of cancer. In summary, the present study constitutes the first analysis on the role of overall STAT3 phosphorylation state in ccRCC and demonstrates that pS727 promotes the expression of a specific subset of target genes that might be clinically relevant as novel biomarkers and potential therapeutic targets for ccRCC.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Humanos , Carcinoma de Células Renales/genética , Fosforilación , Serina/genética , Serina/metabolismo , Factor de Transcripción STAT3/genética , Factor de Transcripción STAT3/metabolismo , Neoplasias Renales/genética , Línea Celular Tumoral
11.
Eur Rev Med Pharmacol Sci ; 27(18): 8494-8504, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37782165

RESUMEN

OBJECTIVE: The aim of this retrospective cohort study was to investigate complete blood count parameters in patients with Behçet's disease (BD) who present with oral ulcers and patients with recurrent aphthous stomatitis (RAS) in order to determine whether they could be used as discriminatory biomarkers. PATIENTS AND METHODS: This study was conducted between January 2019 and January 2023. The study population consisted of three groups: patients with BD who had oral ulcer manifestation (n=85, BD-Group), patients with idiopathic RAS (n=186, RAS-Group) and healthy controls (n=90, HC-Group). All data about participants, on their first application, including sociodemographic and clinical data, comorbidity status, laboratory results were collected retrospectively from the hospital computer records and patients' charts. RESULTS: The groups were similar in terms of age (p=0.235) and sex distribution (p=0.450). Mean platelet volume (MPV) and plateletcrit values of the BD-Group were significantly lower, while platelet distribution width (PDW) was significantly higher, compared to the other two groups (p<0.001 for all). Low MPV (<9.15) (56.47% sensitivity and 90.86% specificity), high PDW (≥15.75) (75.00% sensitivity and 94.96% specificity) and low plateletcrit (<0.237) (55.29% sensitivity and 79.46% specificity) could significantly distinguish BD patients with oral ulcer onset from patients with RAS. CONCLUSIONS: PDW, MPV, and plateletcrit may be useful biomarkers in the differential diagnosis of oral ulcers when distinguishing between BD and RAS. However, these results need to be supported by further comprehensive studies.


Asunto(s)
Síndrome de Behçet , Úlceras Bucales , Estomatitis Aftosa , Humanos , Estomatitis Aftosa/diagnóstico , Síndrome de Behçet/diagnóstico , Estudios Retrospectivos
13.
Appl Radiat Isot ; 202: 111041, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37776633

RESUMEN

This work explores the primary activity standardisation of 32Si as part of the SINCHRON project that aims at filling the geochronological dating gap by making a new precise measurement of the half-life of this nuclide. The stability of some of the radioactive test solutions, providing 32Si as hexafluorosilicic acid (H232SiF6), was monitored over long periods, pointing to the adequate sample composition and vial type to ensure stability. These solutions were standardised using liquid scintillation counting with the triple to double coincidence ratio (TDCR) technique and the CIEMAT-NIST efficiency tracing (CNET) method. Complementary backup measurements, using 4πß-γ coincidence counting with 60Co as a tracer, were performed with both liquid and plastic scintillation for beta detection. While 60Co coincidence tracing with a liquid scintillator predicted activities in agreement with the TDCR and CNET determinations, using plastic scintillation turned out to be unfeasible as the addition of lanthanum nitrate and ammonia to fix the silicon during the drying process generated large crystals that compromised the linearity of the efficiency function.

14.
J Fr Ophtalmol ; 46(10): 1195-1203, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37666735

RESUMEN

PURPOSE: The goal of this paper was to compare the intraocular pressure (IOP) measurements obtained via iCare Pro rebound (IRT), non-contact tonometry (NCT), and Goldmann applanation (GAT) tonometry in healthy subjects. MATERIALS AND METHODS: One hundred and twenty-five healthy individuals were included in this study. The participants' IOP measurements were obtained via non-contact tonometry. After routine ophthalmic examination, central corneal thickness (CCT) was measured with a topography device. Intraocular pressure was measured via iCare Pro rebound tonometry. After waiting for 5minutes, three measurements were taken with GAT under topical anaesthesia, and their means were recorded. Interdevice agreement was evaluated with the intraclass correlation coefficient (ICC) and Bland-Altman analysis. RESULTS: The mean IOP measurements for NCT, IRT, and GAT were 15.97±2.99, 17.47±2.86, and 16.46±2.68mmHg, respectively. The mean difference between NCT and GAT was -0.49± 1.89mmHg, the mean difference between IRT and GAT was 1.01±1.90mmHg, and the mean difference between NCT and IRT was -1.50±2.02mmHg. Agreement between devices was found to be >0.8 for each tonometry ICC. There were significant positive correlations between the measurements obtained via these three instruments and CCT. CONCLUSION: In this study, IOP was measured slightly lower with NCT than GAT, but it was about 1mmHg higher with IRT than GAT on average. All three devices appeared to be affected by CCT, with NCT being the most affected in this regard. The three instruments can be used for routine inspection and screening. However, considering the differences in the measurements obtained by using them, it is clear that following up IOP measurements with GAT measurements is beneficial in advanced glaucoma patients.


Asunto(s)
Glaucoma , Presión Intraocular , Humanos , Estudios Prospectivos , Reproducibilidad de los Resultados , Glaucoma/diagnóstico , Tonometría Ocular
15.
Appl Radiat Isot ; 200: 110986, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37597267

RESUMEN

177Lu decays through low-energy ß-- and γ-emissions in addition to conversion and Auger electrons. To support the use of this radiopharmaceutical in Switzerland, a 177Lu solution was standardised using the ß-γ coincidence technique, as well as the TDCR method. The solution had no 177mLu impurity. Primary coincidence measurements, with plastic scintillators for beta detection, were carried out using both analogue and digital electronics. TDCR measurements using only defocusing were also made. Monte Carlo calculations were used to compute the detection efficiency. The coincidence measurements with both analogue and digital electronics are compatible within one standard uncertainty, but they are lower than (and discrepant with) the TDCR measurements. An ampoule of this solution was submitted to the BIPM as a contribution to the Système International de Référence.

17.
Endocrine ; 82(3): 613-621, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37490266

RESUMEN

BACKGROUND: Familial papillary thyroid microcarcinoma (FPTMC) appears to be more aggressive than sporadic papillary thyroid microcarcinoma (SPTMC). However, there are authors who indicate that unicentric FPTMC has a similar prognosis to SPTMC. The objective is to analyze whether unicentric FPTMC has a better prognosis than multicentric FPTMC. DESIGN AND METHODS: Type of study: National multicenter longitudinal analytical observational study. STUDY POPULATION: Patients with FPTMC. STUDY GROUPS: Two groups were compared: Group A (unicentric FPTMC) vs. Group B (multicentric FPTMC). STUDY VARIABLES: It is analyzed whether between the groups there are: a) differentiating characteristics; and b) prognostic differences. STATISTICAL ANALYSIS: Cox regression analysis and survival analysis. RESULTS: Ninety-four patients were included, 44% (n = 41) with unicentric FPTMC and 56% (n = 53) with multicentric FPTMC. No differences were observed between the groups according to socio-familial, clinical or histological variables. In the group B a more aggressive treatment was performed, with higher frequency of total thyroidectomy (99 vs. 78%; p = 0.003), lymph node dissection (41 vs. 15%; p = 0.005) and therapy with radioactive iodine (96 vs. 73%; p = 0.002). Tumor stage was similar in both groups (p = 0.237), with a higher number of T3 cases in the group B (24 vs. 5%; p = 0.009). After a mean follow-up of 90 ± 68.95 months, the oncological results were similar, with a similar disease persistence rate (9 vs. 5%; p = 0.337), disease recurrence rate (21 vs. 8%; p = 0.159) and disease-free survival (p = 0.075). CONCLUSIONS: Unicentric FPTMC should not be considered as a SPTMC due to its prognosis is similar to multicentric FPTMC.


Asunto(s)
Carcinoma Papilar , Neoplasias de la Tiroides , Humanos , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/terapia , Neoplasias de la Tiroides/patología , Radioisótopos de Yodo/uso terapéutico , Recurrencia Local de Neoplasia/tratamiento farmacológico , Carcinoma Papilar/patología , Pronóstico , Tiroidectomía/métodos , Estudios Retrospectivos
18.
Pathol Res Pract ; 247: 154514, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37201465

RESUMEN

Triple negative breast cancer is considered as the worst aggressive subtype with poor prognosis. Recent studies suggest a hereditary component is involved in TNBC development, especially in young patients. However, genetic spectrum remains unclear. Our purpose was to evaluate the usefulness of multigene panel testing in triple negative patients compared to overall breast cancer cases as well as contributing to elucidate which genes are most implicated in triple negative subtype development. Two breast cancer cohorts, comprising 100 triple negative breast cancer patients and 100 patients with other breast cancer subtypes, were analyzed by Next-Generation Sequencing using an On-Demand panel which included 35 predisposition cancer genes associated with inherited cancer susceptibility. The percentage of germline pathogenic variant carriers was higher in the triple negative cohort. ATM, PALB2, BRIP1 and TP53 were the most non-BRCA mutated genes. Moreover, triple negative breast cancer patients without family history related who were identified as carriers were diagnosed at significantly earlier age. As conclusion, our study reinforces the usefulness of multigene panel testing in breast cancer cases but specifically in those with triple negative subtype regardless family history.


Asunto(s)
Neoplasias de la Mama , Neoplasias de la Mama Triple Negativas , Humanos , Femenino , Neoplasias de la Mama Triple Negativas/diagnóstico , Neoplasias de la Mama Triple Negativas/genética , Proteína BRCA1/genética , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Proteína BRCA2/genética , Detección Precoz del Cáncer , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Pruebas Genéticas
20.
Heliyon ; 9(5): e15680, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37180911

RESUMEN

This systematic literature review encompassed the results of previous research on personal reputation and found opportunities in state of the literature to guide future research in communication, management, and other disciplines in the social sciences. A content analysis was conducted of 91 manuscripts from 1984 to November 2022, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The findings suggest that the amount of literature on personal reputation has increased since 2006; however, it is still in a developing stage. Due to its scarcity, it is advisable to conduct more qualitative and probability studies. For this review, several of the most cited articles are probably pioneering manuscripts that contributed to building the personal reputation construct. This review establishes a total of six categories for guiding future research opportunities on personal reputation. To facilitate the classification of the different future research opportunities, some types of areas suggested by Gomez-Trujillo et al. were considered. The discussion of future research opportunities includes categories like Causes and Effects, Inventories and Scales, Online and Digital Context, Organizational and Group Environments, Leaders and Top Management Executives, and Theory-building. On the other hand, this study could be considered the first step towards future research on how personal reputation influences audiences' opinions and perceptions in different research fields. It also opens the possibility of conducting more specific systematic literature reviews on this topic. Finally, this manuscript offers an overview of the present and the future of construct of personal reputation in the social sciences.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA