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1.
J Pathol Transl Med ; 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38952255

RESUMO

The blood vessel lumen is an extremely rare location for a benign peripheral nerve sheath tumor like schwannoma. Less than 10 cases have been previously reported. In this report, we present a case of a 68-year-old woman who had a soft tissue nodule at the posterior calf of her left leg during a physical examination. Pathological examination was performed after complete surgical excision. The patient underwent follow-up for 12 months after surgery without evidence of recurrence or any other complication. This is the first case of intravascular schwannoma reported as a cause of vein obstruction. Microscopically, the tumor was composed of Schwann spindle cells that were immunoreactive for S100 protein and SOX10. This tumor was surrounded by a well-defined vascular smooth muscle wall. Prospective series are required to improve the knowledge on the underlying mechanisms of intravascular schwannoma development.

2.
Sci Rep ; 14(1): 15168, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38956121

RESUMO

The lithium cycling in the supra-subduction mantle wedge is crucial for understanding the generation of Li-rich magmas that may potentially source ore deposition in continental arcs. Here, we look from the mantle source perspective at the geological processes controlling the Li mobility in convergent margins, by characterizing a set of sub-arc mantle xenoliths from the southern Andes (Coyhaique, western Patagonia). The mineral trace element signatures and oxygen fugacity estimates (FMQ > + 3) in some of these peridotite xenoliths record the interaction with arc magmas enriched in fluid-mobile elements originally scavenged by slab dehydration. This subduction-related metasomatism was poorly effective on enhancing the Li inventory of the sub-arc lithospheric mantle, underpinning the inefficiency of slab-derived fluids on mobilizing Li through the mantle wedge. However, major and trace element compositions of mantle minerals in other xenoliths also record transient thermal and chemical anomalies associated with the percolation of slab window-related magmas, which exhibit an "adakite"-type geochemical fingerprint inherited by slab-derived melts produced during ridge subduction and slab window opening event. As these melts percolated through the shallow (7.2-16.8 kbar) and hot (952-1054 °C) lithospheric mantle wedge, they promoted the crystallization of metasomatic clinopyroxene having exceptionally high Li abundances (6-15 ppm). Numerical modeling shows that low degrees (< 10%) of partial melting of this Li-rich and fertile sub-arc lithospheric mantle generates primitive melts having two-fold Li enrichment (~13 ppm) compared with average subduction-zone basalts. Prolonged fractional crystallization of these melts produces extremely Li-enriched silicic rocks, which may stoke the Li inventory of mineralizing fluids in the shallow crust.

3.
Cancers (Basel) ; 16(13)2024 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-39001470

RESUMO

Neoadjuvant chemotherapy (NT) followed by radical surgery is the standard treatment for locally advanced gastric cancer (GC). The incidence of sarcopenia in upper gastrointestinal tract malignancies is very high, and it may be increased after NT. This study aimed to evaluate the impact of NT on body composition. A retrospective study of patients with locally advanced GC undergoing gastrectomy who had received NT in a tertiary hospital between 2012 and 2019 was conducted. CT measured the skeletal muscle index, total psoas area, and visceral and subcutaneous adipose tissue before and after NT. Of the 180 gastrectomies for GC, 61 patients received NT. During NT, changes in body composition were observed with a decrease in the skeletal muscle mass index (SMMI -2.5%; p < 0.001), and these changes were significantly greater in men (SMMI -10.55%). Before surgery, patients who received NT presented 15% more sarcopenia than those without NT (p = 0.048). In conclusion, patients with locally advanced gastric cancer who receive NT have significant changes in body composition during chemotherapy. These changes, which are at the expense of a loss of muscle mass, lead to an increased incidence of pre-surgical sarcopenia.

4.
PLoS One ; 19(7): e0306999, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39012871

RESUMO

Multiple sclerosis (MS) is a multifaceted neurological condition characterized by challenges in timely diagnosis and personalized patient management. The application of Artificial Intelligence (AI) to MS holds promises for early detection, accurate diagnosis, and predictive modeling. The objectives of this study are: 1) to propose new MS trajectory descriptors that could be employed in Machine Learning (ML) regressors and classifiers to predict patient evolution; 2) to explore the contribution of ML models in discerning MS trajectory descriptors using only baseline Magnetic Resonance Imaging (MRI) studies. This study involved 446 MS patients who had a baseline MRI, at least two measurements of Expanded Disability Status Scale (EDSS), and a 1-year follow-up. Patients were divided into two groups: 1) for model development and 2) for evaluation. Three descriptors: ß1, ß2, and EDSS(t), were related to baseline MRI parameters using regression and classification XGBoost models. Shapley Additive Explanations (SHAP) analysis enhanced model transparency by identifying influential features. The results of this study demonstrate the potential of AI in predicting MS progression using the proposed patient trajectories and baseline MRI scans, outperforming classic Multiple Linear Regression (MLR) methods. In conclusion, MS trajectory descriptors are crucial; incorporating AI analysis into MRI assessments presents promising opportunities to advance predictive capabilities. SHAP analysis enhances model interpretation, revealing feature importance for clinical decisions.


Assuntos
Progressão da Doença , Aprendizado de Máquina , Imageamento por Ressonância Magnética , Esclerose Múltipla , Humanos , Imageamento por Ressonância Magnética/métodos , Esclerose Múltipla/diagnóstico por imagem , Feminino , Masculino , Adulto , Pessoa de Meia-Idade
5.
Sci Transl Med ; 16(756): eadk4802, 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39018365

RESUMO

Snakebites affect about 1.8 million people annually. The current standard of care involves antibody-based antivenoms, which can be difficult to access and are generally not effective against local tissue injury, the primary cause of morbidity. Here, we used a pooled whole-genome CRISPR knockout screen to define human genes that, when targeted, modify cell responses to spitting cobra venoms. A large portion of modifying genes that conferred resistance to venom cytotoxicity was found to control proteoglycan biosynthesis, including EXT1, B4GALT7, EXT2, EXTL3, XYLT2, NDST1, and SLC35B2, which we validated independently. This finding suggested heparinoids as possible inhibitors. Heparinoids prevented venom cytotoxicity through binding to three-finger cytotoxins, and the US Food and Drug Administration-approved heparinoid tinzaparin was found to reduce tissue damage in mice when given via a medically relevant route and dose. Overall, our systematic molecular dissection of cobra venom cytotoxicity provides insight into how we can better treat cobra snakebite envenoming.


Assuntos
Venenos Elapídicos , Mordeduras de Serpentes , Animais , Humanos , Mordeduras de Serpentes/tratamento farmacológico , Camundongos , Antídotos/farmacologia
6.
Tuberculosis (Edinb) ; 148: 102544, 2024 Jul 14.
Artigo em Inglês | MEDLINE | ID: mdl-39018651

RESUMO

The PhoPR system is a master regulator in Mycobacterium tuberculosis. A key difference between M. tuberculosis and Mycobacterium bovis is a G71I substitution in the M. bovis PhoR orthologue. Functional studies of the M. bovis PhoPR system have generated conflicting findings, with some research suggesting that the M. bovis PhoPR is defective while others indicate it is functional. We sought to revisit the functionality of the M. bovis PhoPR system. To address this, we constructed a phoPR mutant in the reference strain M. bovis AF2122/97. We employed a combination of growth assays and transcriptomics analyses to assess the phenotype of the mutant vs wild type and complemented strains. We found that the M. bovis AF2122/97 ΔphoPR mutant showed a growth defect on solid and liquid media compared to the wild type and complemented strains. The transcriptome of the M. bovis AF2122/97 ΔphoPR mutant was also altered as compared to wild type, including differential expression of genes involved in lipid metabolism and secretion. Our work provides further insight into the activity of PhoPR in M. bovis and underlines the importance of the PhoPR system as a master regulator of gene expression in the Mycobacterium tuberculosis complex.

7.
Thromb Res ; 241: 109087, 2024 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-39018931

RESUMO

INTRODUCTION: Hormone therapy (HT) for breast cancer is associated with an increased risk of venous thromboembolism (VTE). This study examines the effects of continuing versus discontinuing HT on VTE recurrence, major bleeding, and mortality, after an acute VTE event. METHODS: Using data in the RIETE-registry from March 2001 through September 2021, we calculated incidence rates and rate-ratios (RR) for VTE events in patients on- and off HT. Cox regression models assessed the impact of HT continuation. RESULTS: Among 479 women with breast cancer on HT who developed VTE (pulmonary embolism 279, isolated deep vein thrombosis 200), 350 (73 %) continued HT. These women were slightly older (70 ± 13 vs. 67 ± 16 years) than those discontinuing HT, with no significant differences in other baseline characteristics. Over a median follow-up of 294 days, 25 (5.2 %) developed VTE recurrences, 18 (3.7 %) had major bleeding, and 73 (15.2 %) died. Rates of VTE recurrence did not differ significantly between groups (RR: 1.28, 95 % CI 0.44-3.75), except in the first three months post-VTE, where a higher rate was observed in those continuing HT (6.02/100 patients-year vs. no events). On multivariable analysis, HT continuation showed no association with VTE recurrences after adjusting for other thromboembolic risk factors (adjusted hazard ratio [aHR] 1.49, 95 % CI 0.5-4.45). CONCLUSION: Continuing HT after a VTE event in women with breast cancer does not generally affect the long-term risk of VTE recurrences but is associated with a higher risk in the first three months. These findings highlight the need for careful monitoring during this period.

8.
Front Immunol ; 15: 1369278, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39021575

RESUMO

Matrix-assisted laser desorption/ionization mass spectrometry imaging (MALDI-MSI) has recently gained prominence for its ability to provide molecular and spatial information in tissue sections. This technology has the potential to uncover novel insights into proteins and other molecules in biological and immunological pathways activated along diseases with a complex host-pathogen interaction, such as animal tuberculosis. Thus, the present study conducted a data analysis of protein signature in granulomas of cattle and pigs naturally infected with the Mycobacterium tuberculosis complex (MTC), identifying biological and immunological signaling pathways activated throughout the disease. Lymph nodes from four pigs and four cattle, positive for the MTC by bacteriological culture and/or real-time PCR, were processed for histopathological examination and MALDI-MSI. Protein identities were assigned using the MaTisse database, and protein-protein interaction networks were visualized using the STRING database. Gene Ontology (GO) analysis was carried out to determine biological and immunological signaling pathways in which these proteins could participate together with Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Distinct proteomic profiles between cattle and pig granulomas were displayed. Noteworthy, the GO analysis revealed also common pathways among both species, such as "Complement activation, alternative pathway" and "Tricarboxylic acid cycle", which highlight pathways that are conserved among different species infected by the MTC. In addition, species-specific terms were identified in the current study, such as "Natural killer cell degranulation" in cattle or those related to platelet and neutrophil recruitment and activation in pigs. Overall, this study provides insights into the immunopathogenesis of tuberculosis in cattle and pigs, opening new areas of research and highlighting the importance, among others, of the complement activation pathway and the regulation of natural killer cell- and neutrophil-mediated immunity in this disease.


Assuntos
Granuloma , Mycobacterium tuberculosis , Proteômica , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Tuberculose , Animais , Suínos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz/veterinária , Bovinos , Proteômica/métodos , Mycobacterium tuberculosis/imunologia , Tuberculose/imunologia , Tuberculose/veterinária , Tuberculose/microbiologia , Tuberculose/metabolismo , Granuloma/imunologia , Granuloma/microbiologia , Granuloma/metabolismo , Granuloma/veterinária , Doenças dos Suínos/imunologia , Doenças dos Suínos/microbiologia , Mapas de Interação de Proteínas , Interações Hospedeiro-Patógeno/imunologia , Proteoma , Transdução de Sinais
9.
Open Respir Arch ; 6(3): 100334, 2024.
Artigo em Espanhol | MEDLINE | ID: mdl-39021619

RESUMO

Objective: The objective of the study was to analyze the diagnostic process and the time until the start of treatment of patients with idiopathic pulmonary fibrosis in relation to the publication of successive clinical practice guide. Material and methods: Multicenter, observational, ambispective study, in which patients includes in the idiopathic pulmonary fibrosis registry of the Spanish Society of Pulmonologist and Thoracic Surgery were analyzed. An electronic data collection notebook was enabled on the society's website. Sociodemographic and clinical variables were collected at diagnosis and follow-up of the patients. Results: From January 2012 to december 2019, 1064 patients were included in the registry, with 929 finally analyzed. The diagnosis process varied depending on the year in which it was performed, and the radiological pattern observed in the high-resolution computed tomography. Up to 26.3% of the cases (244) were diagnosed with chest high-resolution computed tomography and clinical evaluation. Surgical biopsy was used up to 50.2% of cases diagnosed before 2011, while it has been used in 14.2% since 2018. The median time from the onset of symptoms to diagnosis was 360 days (IQR 120-720), taking more than 2 years in the 21.0% of patients. A percentage of 79.4 of patients received antifibrotic treatment. The average time from diagnosis to the antifibrotic treatment has been 309 ± 596.5 days, with a median of 49 (IQR 0-307). Conclusions: The diagnostic process, including the time until diagnosis and the type of test used, has changed from 2011 to 2019, probably due to advances in clinical research and the publication of diagnostic-therapeutic consensus guidelines.

10.
Endoscopy ; 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39025130

RESUMO

BACKGROUND AND AIMS: Hepatic Venous Portal Gradient (HVPG) measurement remains the gold standard for estimating portal pressure gradient (PPG). AIM: To evaluate the correlation between EUS-guided portal pressure gradient (EUS-PPG) and HVPG in patients with chronic portal hypertension. PATIENTS AND METHODS: Patients with chronic portal hypertension in whom HVPG assessment was clinically indicated were invited to undergo transjugular HVPG and EUS-PPG with a 22G needle in separate sessions for comparison. Intra-class correlation coefficient (ICC), and Bland-Altman method were used to evaluate the agreement between techniques. RESULTS: 33 patients were included. No significant differences in technical success were observed: EUS-PPG (31/33, 93.9%) vs. HVPG (31/33, 93.9%). Thirty patients who underwent successful EUS-PPG and HVPG were analysed. Correlation between the two techniques showed an ICC: 0.82(0.65-0.91). Four patients had major discrepancies (≥ 5 mmHg) between HVPG and EUS-PPG. No significant differences in adverse events were observed. CONCLUSIONS: The correlation between EUS-PPG and HVPG was almost perfect. EUS-PPG could be a safe and reliable method for direct PPG measurement in cirrhotic patients and a valid alternative to HVPG. NCT05689268.

11.
Arch Gynecol Obstet ; 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39026022

RESUMO

BACKGROUND: Polycystic ovary syndrome (PCOS) is a heterogenous endocrine condition and combined oral contraceptives (COCs) have been demonstrated to be the first-line treatment to women who do not intend to become pregnant. The combination of COCs and PCOS may or may not amplify the risks of cardiovascular events. OBJECTIVE: To investigate whether surrogates for obesity may be influenced by the use of COCs containing different formulations in women with PCOS. METHOD: From January 2024 a literature search was conducted in Google Scholar and Pubmed databases using PCOS, COC, and obesity terms. Hand search of randomized clinical trials in the references of obtained manuscripts was also performed. After the exclusion of reviews and articles that did not fulfill eligibility criteria, compared the results obtained before and after the use of COCs in 13 randomized clinical trials (RCTs). Random-effects model was used to estimate the standardized mean differences (SMD) and standard errors (SE). Risk of bias was examined using the Rob2 tool. RESULT: Thirteen heterogeneous RCTs reported no difference in waist circumference with the use of different COC formulations (p = 0.714). On the contrary, body fat mass increased with the use of pill (p = 0.013). Waist triglyceride index and lipid accumulation product tended to be higher after the use of COCs (p = 0.073 and p = 0.064, respectively). CONCLUSION: Combined oral contraceptives with different formulations might increase fat mass accumulation in women with PCOS. Lipids may also be increased in PCOS users. Because some concerns about the quality and heterogeneity identified in various RCTs, caution should be taken before a definitive conclusion regarding the use of COCs and obesity.

12.
Spine Deform ; 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39026125

RESUMO

Scheuermann´s kyphosis (SK) is the most common cause of painful and progressive structural hyperkyphosis in adolescents. Surgical treatment should be considered in cases of refractory pain or progressive deformities. We present the clinical and radiological results obtained using a bipolar, hybrid posterior instrumentation tecnique. We analysed 12 males and 6 females, with mean age of 15.8 years. Minimum follow-up was 2 years. We used transverse process hooks at the cranial level and polyaxial screws for the remaining levels. We did not instrument the periapical segment. We used the sagittal stable vertebra (SSV) as the lower instrumented vertebra (LIV) in most cases, the "barely touched SSV" if the above disc space is lordotic. The mean preoperative kyphosis was 73.6º, mean postoperative kyphosis 44.7º, and mean correction of 28.9º (p = 0.0002). The mean reduction in lumbar lordosis (LL) was 8.9º (p = 0.0018). There were no significant differences in the spinopelvic parameters or sagittal balance. The mean number of instrumented levels was 8.9. Type II osteotomies were necessary in only three patients. Three patients had a cranial sagittal angle greater than 10°, all of them asymptomatic. Postoperatively, all patients had VAS scores less than 2 and SRS-22 scores greater than 4. Hybrid bipolar posterior instrumentation offers adequate curve correction, less operative time, implant density, bleeding, material protrusion and risk of spinal cord injury, leaving a large periapical bed for graft supply. We propose to measure the flexibility of the curve in MRI. In flexible curves (those that correct at least 20% in the supine decubitus position), wide facetectomies offer adequate correction of the deformity.

13.
J Comp Physiol B ; 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38958740

RESUMO

The present study investigated the best photoperiod for culturing pacu (Piaractus mesopotamicus) in recirculation aquaculture systems (RAS) based on its growth performance and hematological and oxidative stress responses. Juveniles (∼ 5 g) were subjected to five treatments (in triplicate): 24 L (light):0D (dark), 15 L: 09D, 12 L:12D, 9 L:15D, and 0 L:24D for 45 days. A total of 225 pacu individuals were randomly distributed among 15 tanks of 210 L (n = 15 per tank). Zootechnical, hematological (glucose, lactate, hematocrit, and hemoglobin), and antioxidant and oxidative stress parameters (glutathione S-transferase (GST), total antioxidant capacity against peroxyl radicals (ACAP), and lipid peroxidation (LPO) were analyzed. The zootechnical parameters (e.g., weight gain, Fulton's condition factor, and specific growth rate) were better and worse with 9 L:15D and 24 L:0D photoperiods, respectively. The hepatosomatic index was higher and lower in the 0 L:24D and 9 L:15D photoperiods. Blood lactate levels and antioxidant and oxidative stress responses were increased in the longest photoperiods (15 L:9D and 24 L:0D). In contrast, the treatments that showed lower oxidative damage (liver, gills, brain, and muscle) were 9 L:15D and 12 L:12D. In conclusion, manipulating artificial light is one way to improve fish growth and health, where the best photoperiod for pacu farming in RAS is 9 L:15D.

14.
Cureus ; 16(7): e64914, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39035599

RESUMO

Introduction Photobiomodulation is an emerging treatment modality in dermatology, with increasing use in doctors' offices. Photobiomodulation is the use of various light sources in the red light (620-700 nm) and near-infrared (700-1440 nm) spectrums as a form of light therapy. Objective The objective of the present study was to evaluate the use of photobiomodulation to improve pain in patients who take analgesics daily for chronic non-arterial leg ulcers. Method A cohort trial was performed with 20 patients to evaluate the improvement in pain, patient tolerance to treatment, and evolution of chronic, difficult-to-heal leg ulcers treated with low-frequency laser. Data were entered into a Microsoft Excel spreadsheet (Microsoft Corporation, Redmond, WA, US). Statistical analysis used the Stats Direct 3 program with significance being set at an alpha error of 5% (p-value <0.05). Results An improvement in pain immediately after the first session was experienced by 18/20 patients; these patients remained pain-free for at least four days. One patient had suffered much pain during the entire day; a biopsy with culture and antibiogram was performed with the pain improving after treating an infection with appropriate antibiotics. However, one other case reported no improvement in the pain. Conclusion Photobiomodulation is an optional adjuvant therapy to improve pain in the treatment of chronic, difficult-to-heal leg ulcers.

15.
Clin Ophthalmol ; 18: 1933-1944, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38983598

RESUMO

Purpose: To assess the refractive and visual outcomes of hyperopic and astigmatic eyes implanted with a monofocal, aspheric, bitoric intraocular lens (IOL) with plate haptics following cataract surgery. Methods: The study evaluated 51 eyes implanted with the AT TORBI 709M IOL (Carl Zeiss Meditec AG, Jena, Germany) during a follow-up of 12-months. Refractive error, rotational stability, monocular uncorrected distance visual acuity (UDVA), monocular corrected distance visual acuity (CDVA), and contrast sensitivity were analyzed at 1-, 6-, and 12-months post-surgery. Results: At 12 months, the cumulative CDVA was 20/25 in 94.12% of eyes and 20/32 or better in 98.04%. The UDVA was the same as, or better than, the CDVA in 88.24% of eyes. The mean logMAR UDVA and CDVA values were 0.06 ± 0.11 and 0.00 ± 0.08, respectively. In addition, 92.16% of eyes were within ±0.50 D and 98.04% were within ±1.00 D of a spherical equivalent, and 86.27% of eyes had refractive astigmatism ≤0.50D and 100% were ≤1.00D. The mean spherical equivalent was 0.21 ± 0.31D and the mean refractive cylinder 0.34 ± 0.27D. The IOL rotation was 1.18 ± 1.35 degrees and all eyes had a rotation ≤5 degrees. The log contrast sensitivity functions were good and similar for all spatial frequencies during follow-up. Conclusion: Our results demonstrate that implantation of the AT TORBI 709M IOL in hyperopic and astigmatic eyes is effective and safe. The visual and refractive outcomes were good, showing excellent rotational stability.

16.
World J Nephrol ; 13(2): 93322, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38983763

RESUMO

Obstructive uropathy is defined as the structural or functional interruption of urinary outflow at any level in the urinary tract. It is regarded as one of the most prevalent causes of acute kidney injury (AKI), accounting for 5%-10% of cases. Acute severe obstruction of the urinary tract is a potentially threatening situation for the kidneys and therefore requires prompt identification and management to relieve obstruction. The aim of the present article is to review and synthesize available evidence on obstructive uropathy, providing a clinical guideline for clinicians. A literature review on obstructive uropathy in the context of AKI was performed, focusing on the least clarified aspects regarding diagnosis and management. Recent literature searching was conducted in English and top-level evidence articles including systematic reviews, metanalyses and large series were prioritized. Acute obstruction of the urinary tract is a diagnostic and therapeutical challenge that may lead to important clinical complications together with direct structural and hemodynamic damage to the kidney. Early recognition of the leading cause and its exact location is essential to ensure prompt urinary drainage together with the most suitable drainage technique selection. A multidisciplinary approach, including urologists, nephrologists, and other medical specialties, is best suited to correctly manage concomitant hemodynamic changes, fluid and electrolyte imbalances, and other related issues. Obstructive uropathy is one of the leading causes of AKI. Recognition of patients suitable for early diversion and feasibility or adequate selection of the indicated technique is sometimes challenging. A thorough understanding of the physiopathology behind the development of urinary obstruction is vital for correct diagnosis and management.

17.
Front Immunol ; 15: 1357726, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38983850

RESUMO

Breast cancer, characterized by its complexity and diversity, presents significant challenges in understanding its underlying biology. In this study, we employed gene co-expression network analysis to investigate the gene composition and functional patterns in breast cancer subtypes and normal breast tissue. Our objective was to elucidate the detailed immunological features distinguishing these tumors at the transcriptional level and to explore their implications for diagnosis and treatment. The analysis identified nine distinct gene module clusters, each representing unique transcriptional signatures within breast cancer subtypes and normal tissue. Interestingly, while some clusters exhibited high similarity in gene composition between normal tissue and certain subtypes, others showed lower similarity and shared traits. These clusters provided insights into the immune responses within breast cancer subtypes, revealing diverse immunological functions, including innate and adaptive immune responses. Our findings contribute to a deeper understanding of the molecular mechanisms underlying breast cancer subtypes and highlight their unique characteristics. The immunological signatures identified in this study hold potential implications for diagnostic and therapeutic strategies. Additionally, the network-based approach introduced herein presents a valuable framework for understanding the complexities of other diseases and elucidating their underlying biology.


Assuntos
Neoplasias da Mama , Perfilação da Expressão Gênica , Regulação Neoplásica da Expressão Gênica , Redes Reguladoras de Genes , Inflamação , Humanos , Neoplasias da Mama/genética , Neoplasias da Mama/imunologia , Feminino , Inflamação/imunologia , Inflamação/genética , Transcriptoma , Biomarcadores Tumorais/genética
18.
Eur J Case Rep Intern Med ; 11(7): 004595, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38984173

RESUMO

Background: Hypertrophic pachymeningitis (HP) is a disease with diverse aetiologies, including the autoimmune one, either associated with antineutrophil cytoplasmic antibodies or immunoglobulin G4. Case description: A 65-year-old woman with a history of systemic arterial hypertension, presented with intense progressive headaches. HP and hemispheric vasogenic oedema were observed by nuclear magnetic resonance (NMR) study. During the six months before the headache, she had developed progressive hearing loss which she attributed to age. A biopsy of dura mater showed necrotising vasculitis with peripheral inflammatory infiltrate, made up of accumulations of epithelioid cells and multinucleated giant cells, and abundant eosinophils. A final diagnosis of HP with eosinophilic granulomatosis with polyangiitis (EGPA) was made. Discussion: The patient had eosinophilic granulomatosis with polyangiitis (EGPA) histology, ANCA-negative serology and HP. This case is important because it shows that EGPA seems to have a spectrum of clinical diseases, including HP with negative serology, and bilateral sensorineural hearing loss. Conclusion: We are facing a wide spectrum of EGPA, breaking the paradigm of only systemic involvement. LEARNING POINTS: Hypertrophic pachymeningitis (HP) has several aetiologies; if the systemic investigation is not contributory to a diagnosis, a meningeal biopsy is necessary.This is the first case report of HP, associated with eosinophilic granulomatosis with polyangiitis (EGPA), and ANCA-negative serology.EGPA is probably a spectrum of diseases with predominant systemic involvement, but there may be cases where there is histological evidence, without the systemic context or positive serology.

20.
Arch Bronconeumol ; 2024 Jun 26.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38987114

RESUMO

Alveolar-pleural fistulas (APF) are a clinical entity that represents a diagnostic and therapeutic challenge. OBJECTIVE: The objective of this work is to design a diagnostic algorithm for the anatomical detection of APF in patients who are not candidates for surgical treatment. METHOD: Prospective non-randomized study of 47 patients. Diagnostic procedures were performed: (a) prior to bronchoscopy: computed axial tomography (CT) and implantation of electronic pleural drainage system (EPD) and (b) endoscopic: endobronchial occlusion (EO) by balloon, selective endobronchial oxygen insufflation (OI) (2l) and selective bronchography (BS) (instillation of iodinated radiological contrast using continuous fluoroscopy). RESULTS: The sample was predominantly male (81%). The diagnostic methods revealed: (a) Determination of the anatomical location of APF by CT in 15/46 patients (31.9% of sample), and variations in the pattern (intermittent or continuous air leak) and quantification after drug administration sedatives using EPD, (b) endoscopic: anatomical determination of APF was achieved in 57.1, 81 and 63.4% respectively using EO, OI and BS. The combination of the diagnostic tests allowed us to determine the anatomical location of the APF in 91.5% of the sample. No complications were recorded in 85.1% of cases. CONCLUSIONS: The diagnosis of APF by flexible bronchoscopy is a useful method, with an adequate safety and efficacy profile. The proposed diagnostic algorithm includes the use of EPD and performing a CT scan. Regarding endoscopic diagnosis: in case of continuous air leak, the first option is OE; and if the leak is intermittent, we recommend endobronchial OI, with BS as a secondary option (respective sensitivity 81% vs 63.4% and complications 8.1% vs 7.3%).

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