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1.
Ann Med ; 56(1): 2389470, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39126262

RESUMEN

BACKGROUND: Previous meta-analyses have investigated the efficacy of lipid-lowering therapies for atherosclerotic cardiovascular disease; however, few have focused on patients with acute coronary syndrome (ACS). This meta-analysis aimed to compare the benefits of intensive lipid-lowering therapy with those of background statin therapy in patients with ACS. METHODS: Searches were performed on PubMed, Embase, the Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov databases for articles published until April 13, 2023. Randomized controlled trials that compared intensive lipid-lowering therapies and background statin therapies in patients with prior ACS and recorded the outcome of three-point major cardiovascular events (MACE) were included. The risk ratio (RR) with 95% confidence interval (CI) was used as a measure of primary and secondary outcomes. RESULTS: Nine trials involving 38,640 patients with ACS were identified. Pooled results suggested that intensive lipid-lowering therapies are associated with a reduction in the risk of three-point MACE (RR, 0.88; 95% CI, 0.83-0.94; p < 0.001), recurrent ACS (RR, 0.82; 95% CI, 0.71-0.96; p = 0.013), nonfatal myocardial infarction (MI) (RR, 0.87; 95% CI, 0.81-0.93; p < 0.001), stroke (RR, 0.83; 95% CI, 0.73-0.94; p = 0.003), and unstable angina-related hospitalization (RR, 0.57; 95% CI, 0.33-0.99; p = 0.046), but not all-cause mortality (RR, 0.94; 95% CI, 0.82-1.07; p = 0.329), cardiovascular disease-related mortality (RR, 0.96; 95% CI, 0.88-1.06; p = 0.457) or coronary revascularization (RR, 0.89; 95% CI, 0.79-1.00; p = 0.057). CONCLUSIONS: Intensive lipid-lowering therapies may reduce the risk of three-point MACE, recurrent ACS, nonfatal MI, stroke, and hospitalization for unstable angina in patients with ACS undergoing background statin therapy. These results may assist in clinical decision-making for the secondary prevention of cardiovascular events to initiate intensive lipid-lowering therapies immediately after ACS.


Asunto(s)
Síndrome Coronario Agudo , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Síndrome Coronario Agudo/tratamiento farmacológico , Síndrome Coronario Agudo/mortalidad , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Inhibidores de Hidroximetilglutaril-CoA Reductasas/administración & dosificación , Ensayos Clínicos Controlados Aleatorios como Asunto , Hipolipemiantes/uso terapéutico , Hipolipemiantes/administración & dosificación , Infarto del Miocardio/epidemiología , Infarto del Miocardio/prevención & control , Resultado del Tratamiento , Hospitalización/estadística & datos numéricos , Accidente Cerebrovascular/prevención & control , Accidente Cerebrovascular/epidemiología
2.
Sheng Li Xue Bao ; 76(4): 631-642, 2024 Aug 25.
Artículo en Chino | MEDLINE | ID: mdl-39192795

RESUMEN

In recent decades, there has been a consistent decline in semen quality across the globe, with environmental pollution emerging as the predominant factor. Persistent organic pollutants (POPs) have garnered considerable attention due to their potent biological toxicity and resistance to natural degradation. Within this class of pollutants, polycyclic aromatic hydrocarbons (PAHs) and halogenated aromatic hydrocarbons (HAHs) have been identified as detrimental agents that can disrupt cellular physiological functions by activating aryl hydrocarbon receptor (AhR). However, the precise role of AhR in the adverse effects of environmental pollutants on male mammalian fertility remains incompletely understood. This article provides a comprehensive review of the impact of various environmental pollutants, specifically PAHs such as benzo[a]pyrene, 3-methylcholanthrene, and 7,12-dimethylbenzo[a]anthracene, HAHs including 2,3,7,8-tetrachlorodibenzo-p-dioxins, polychlorinated biphenyls, polybrominated diphenyl ethers, and the pollutant complex PM2.5, as well as cigarette smoke condensates, on male mammalian reproductive function. Additionally, this review focuses on the role of the AhR in mediating these effects. The objective of this review is to elucidate the involvement of AhR in the regulation of male mammalian fertility, thereby offering insights for prospective investigations into the interplay between AhR and male reproductive function, as well as the etiology of idiopathic male infertility in clinic.


Asunto(s)
Contaminantes Ambientales , Infertilidad Masculina , Hidrocarburos Policíclicos Aromáticos , Receptores de Hidrocarburo de Aril , Receptores de Hidrocarburo de Aril/metabolismo , Masculino , Animales , Contaminantes Ambientales/toxicidad , Contaminantes Ambientales/efectos adversos , Humanos , Hidrocarburos Policíclicos Aromáticos/efectos adversos , Hidrocarburos Policíclicos Aromáticos/toxicidad , Infertilidad Masculina/inducido químicamente , Infertilidad Masculina/etiología , Infertilidad Masculina/metabolismo , Bifenilos Policlorados/efectos adversos , Bifenilos Policlorados/toxicidad , Fertilidad/efectos de los fármacos , Éteres Difenilos Halogenados/efectos adversos , Éteres Difenilos Halogenados/toxicidad , Contaminantes Orgánicos Persistentes/efectos adversos , Contaminantes Orgánicos Persistentes/metabolismo
3.
Environ Sci Technol ; 2024 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-39186463

RESUMEN

Emission trading schemes (ETS) are increasingly becoming a popular policy instrument to balance carbon abatement and economic growth. As a globally unified carbon pricing system has not yet been established, whether regionally operated ETSs cause carbon leakage remains a major concern. Taking China's regional pilot ETSs as a quasi-natural experiment, the study uses the spatial difference-in-differences method to examine how regional ETSs affect carbon emissions in and outside cities of policy implementation. Our analysis finds that China's regional ETS policy contributes to a 6.1% reduction in urban CO2 emissions and a 6.6% decline in emissions intensity in regulated cities, causing carbon leakages that increase CO2 emissions in neighboring cities by 1.7% on average. Our finding further suggests that regional ETSs mitigate local CO2 emissions through outsourcing production, improving energy efficiency and decarbonizing energy structure, whereas the outsourcing of industrial production drives up CO2 emissions in adjacent cities. Moreover, the performances of regional ETSs vary largely by socioeconomic context and mechanism design. China's regional ETSs reduce CO2 emissions more effectively in central and industrial cities but with more severe carbon leakage, while rigorous compliance mechanisms and active market trading help deepen carbon abatement and alleviate carbon leakage.

4.
BMC Pediatr ; 24(1): 468, 2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-39039462

RESUMEN

BACKGROUND: Idiopathic short stature (ISS) is characterized by short stature with unknown causes. Recent studies showed different gut microbiota flora and reduced fecal short-chain fatty acids in ISS children. However, the roles of the microbiome and metabolites in the pathogenesis of ISS remains largely unknown. METHODS: We recruited 51 Chinese subjects, comprising 26 ISS children and 25 normal-height control individuals. Untargeted metabolomics was performed to explore the fecal metabolic profiles between groups. A shotgun metagenomic sequencing approach was used to investigate the microbiome at the strains level. Mediation analyses were done to reveal correlations between the height standard deviation (SD) value, the gut microbiome and metabolites. RESULTS: We detected marked differences in the composition of fecal metabolites in the ISS group, particularly a significant increase in erucic acid and a decrease in spermidine, adenosine and L-5-Hydroxytryptophan, when compared to those of controls. We further identified specific groups of bacterial strains to be associated with the different metabolic profile. Through mediation analysis, 50 linkages were established. KEGG pathway analysis of microbiota and metabolites indicated nutritional disturbances. 13 selected features were able to accurately distinguish the ISS children from the controls (AUC = 0.933 [95%CI, 79.9-100%]) by receiver operating characteristic (ROC) analysis. CONCLUSION: Our study suggests that the microbiome and the microbial-derived metabolites play certain roles in children's growth. These findings provide a new research direction for better understanding the mechanism(s) underlying ISS.


Asunto(s)
Heces , Microbioma Gastrointestinal , Humanos , Niño , Masculino , Femenino , Heces/microbiología , Estudios de Casos y Controles , Adolescente , Estatura , Trastornos del Crecimiento/microbiología , Trastornos del Crecimiento/metabolismo , Metabolómica/métodos , Metaboloma
5.
iScience ; 27(7): 110137, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39006481

RESUMEN

Pituitary adenoma-induced excess endocrine growth hormone (GH) secretion can lead to breast cancer development and metastasis. Herein, we used an acromegaly mouse model to investigate the role of excess endocrine GH on triple-negative breast cancer (TNBC) growth and metastasis. Additionally, we aimed to elucidate the molecular mechanism of transcription factor 20 (TCF20)/nuclear factor erythroid 2-related factor 2 (NRF2) signaling-mediated aggressiveness and metastasis of TNBC. Excess endocrine GH induced TCF20 activates the transcription of NRF2 and NRF2-target genes to facilitate TNBC metastasis. Inhibition of GH receptor (GHR) and TCF20 activity using the GHR antagonist or small-interfering RNA-induced gene knockdown resulted in reduced tumor volume and metastasis, suggesting that excess endocrine GH stimulates TCF20/NRF2 pathways in TNBC and promotes metastasis to the lung. GHR inhibitors present an effective therapeutic strategy to prevent TNBC cell growth and metastasis. Our findings revealed functional and mechanistic roles of the GH-TCF20-NRF2 signaling axis in TBNC progression.

6.
J Microbiol Biotechnol ; 34(7): 1410-1418, 2024 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-38858095

RESUMEN

Alveolar echinococcosis (AE) is a persistent parasite condition that causes the formation of tumor-like growths. It is a challenge to treat the disease. These growths need neovascularization to get their oxygen and nutrients, and the disease is prolonged and severe. Considerable research has been conducted on exosomes and their interactions with Echinococcus multilocularis in the context of immunological evasion by the host. However, the extent of their involvement in angiogenesis needs to be conducted. The primary objective of this investigation was to preliminarily explore the effect of exosomes produced from E. multilocularis protoscoleces (PSC-exo) on angiogenesis, to elucidate the mechanism of their roles in the regulation of the downstream pathway of VEGFA activation, and to provide ideas for the development of novel treatments for AE. The study evaluated the impact of PSC-exo increases proliferation, migration, invasion, and tube formation of HUVECs at concentrations of up to 50 µg/ml. In addition, the study sought to validate the findings in vivo. This effect involved increased VEGFA expression at gene and protein levels and AKT/mTOR pathway activation. PSC-exo are crucial in promoting angiogenesis through VEGFA upregulation and AKT/mTOR signaling. This research contributes to our knowledge of neovascularization in AE.


Asunto(s)
Movimiento Celular , Proliferación Celular , Equinococosis , Echinococcus multilocularis , Exosomas , Células Endoteliales de la Vena Umbilical Humana , Neovascularización Patológica , Factor A de Crecimiento Endotelial Vascular , Echinococcus multilocularis/metabolismo , Echinococcus multilocularis/crecimiento & desarrollo , Exosomas/metabolismo , Animales , Humanos , Factor A de Crecimiento Endotelial Vascular/metabolismo , Factor A de Crecimiento Endotelial Vascular/genética , Equinococosis/parasitología , Transducción de Señal , Serina-Treonina Quinasas TOR/metabolismo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Angiogénesis
7.
Gut Microbes ; 16(1): 2359665, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38831611

RESUMEN

The facultative anaerobic Gram-positive bacterium Enterococcus faecium is a ubiquitous member of the human gut microbiota. However, it has gradually evolved into a pathogenic and multidrug resistant lineage that causes nosocomial infections. The establishment of high-level intestinal colonization by enterococci represents a critical step of infection. The majority of current research on Enterococcus has been conducted under aerobic conditions, while limited attention has been given to its physiological characteristics in anaerobic environments, which reflects its natural colonization niche in the gut. In this study, a high-density transposon mutant library containing 26,620 distinct insertion sites was constructed. Tn-seq analysis identified six genes that significantly contribute to growth under anaerobic conditions. Under anaerobic conditions, deletion of sufB (encoding Fe-S cluster assembly protein B) results in more extensive and significant impairments on carbohydrate metabolism compared to aerobic conditions. Consistently, the pathways involved in this utilization-restricted carbohydrates were mostly expressed at significantly lower levels in mutant compared to wild-type under anaerobic conditions. Moreover, deletion of sufB or pflA (encoding pyruvate formate lyase-activating protein A) led to failure of gastrointestinal colonization in mice. These findings contribute to our understanding of the mechanisms by which E. faecium maintains proliferation under anaerobic conditions and establishes colonization in the gut.


Asunto(s)
Proteínas Bacterianas , Enterococcus faecium , Proteínas Hierro-Azufre , Enterococcus faecium/genética , Enterococcus faecium/metabolismo , Enterococcus faecium/crecimiento & desarrollo , Animales , Ratones , Proteínas Bacterianas/genética , Proteínas Bacterianas/metabolismo , Anaerobiosis , Proteínas Hierro-Azufre/genética , Proteínas Hierro-Azufre/metabolismo , Tracto Gastrointestinal/microbiología , Microbioma Gastrointestinal , Infecciones por Bacterias Grampositivas/microbiología , Humanos , Elementos Transponibles de ADN , Metabolismo de los Hidratos de Carbono , Femenino , Acetiltransferasas
8.
Front Genet ; 15: 1364441, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38933926

RESUMEN

Background: Short stature is one of the most prevalent endocrine disorders in children, and its genetic basis is a complex and actively researched subject. Currently, there is limited genetic research on exome sequencing for short stature, and more large-scale studies are necessary for further exploration. Methods: The retrospective study entailed investigation of 98 Chinese children with short statures (height SDS ≤ -2.5) of unknown etiologies recruited between 2017 and 2021. Whole-exome sequencing (WES) was performed on these patients to identify the potential genetic etiologies. The clinical data were reviewed retrospectively to assess the pathogenicity of the identified mutations. Additionally, 31 patients consented to and received recombinant human growth hormone (rhGH) therapy for 12 months. The short-term effects of rhGH treatment were evaluated across different etiologies of patients with short statures. Results: The WES results were used to identify 31 different variants in 18 genes among 24 (24.5%) patients. Individuals with more severe short statures were more likely to have underlying genetic etiologies. Short stature accompanied by other phenotypes had significantly higher diagnostic yields than simple severe short stature. The rhGH therapy demonstrated efficacy in most children. Nevertheless, the treatment response was suboptimal in a boy diagnosed with 3M syndrome. Conclusion: WES is an important approach for confirming genetic disorders in patients with severe short statures of unknown etiologies, suggesting that it could be used as a primary diagnostic strategy. The administration of rhGH may not be suitable for all children with short statures, and the identification of the genetic cause of short stature by WES has significant guidance value for rhGH treatment.

9.
BMC Med Educ ; 24(1): 665, 2024 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-38886707

RESUMEN

PURPOSE: To investigate the effectiveness of problem-based learning (PBL) and case-based learning (CBL) teaching methods in clinical practical teaching in transarterial chemoembolization (TACE) treatment in China. MATERIALS AND METHODS: A comprehensive search of PubMed, the Chinese National Knowledge Infrastructure (CNKI) database, the Weipu database and the Wanfang database up to June 2023 was performed to collect studies that evaluate the effectiveness of problem-based learning and case-based learning teaching methods in clinical practical teaching in TACE treatment in China. Statistical analysis was performed by R software (4.2.1) calling JAGS software (4.3.1) in a Bayesian framework using the Markov chain-Monte Carlo method for direct and indirect comparisons. The R packages "gemtc", "rjags", "openxlsx", and "ggplot2" were used for statistical analysis and data output. RESULTS: Finally, 7 studies (five RCTs and two observational studies) were included in the meta-analysis. The combination of PBL and CBL showed more effectiveness in clinical thinking capacity, clinical practice capacity, knowledge understanding degree, literature reading ability, method satisfaction degree, learning efficiency, learning interest, practical skills examination scores and theoretical knowledge examination scores. CONCLUSIONS: Network meta-analysis revealed that the application of PBL combined with the CBL teaching mode in the teaching of liver cancer intervention therapy significantly improves the teaching effect and significantly improves the theoretical and surgical operations, meeting the requirements of clinical education.


Asunto(s)
Teorema de Bayes , Carcinoma Hepatocelular , Quimioembolización Terapéutica , Neoplasias Hepáticas , Aprendizaje Basado en Problemas , Humanos , Carcinoma Hepatocelular/terapia , Neoplasias Hepáticas/terapia , China , Metaanálisis en Red , Enseñanza , Competencia Clínica
10.
Vascular ; : 17085381241258192, 2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38828763

RESUMEN

OBJECTIVE: To evaluate the short-term clinical outcomes of radiofrequency ablation (RFA) using a radiofrequency (RF) needle device for varicose ulcers. METHODS: From September 2020 to September 2021, a total of 80 patients with varicose ulcers were included in this study. Based on the different surgical methods, the patients were divided into RF group and control groups, with 40 cases in each group. In the RF group, RFA was performed using an RF needle device and foam sclerotherapy was used for superficial veins. The control group was treated with conventional high-ligation stripping. The surgical data, hospitalization data, clinical efficacy, and postoperative complications of two groups were compared. Meanwhile, the correlation between RBC, HB, HCT, and ulcer healing time was analyzed. RESULTS: Compared to the control group, RF group had shorter surgery time, duration in the hospital, and less intraoperative bleeding (p < .05). The VCSS and CIVIQ scores in RF group were significantly higher than that in control group (p < .05). The healing time of ulcers was shorter in the RF group (x2 = 19.766, p = .000). The RF group had fewer postoperative complications. There was a positive correlation between RBC, HB, and HCT, and ulcer healing time (p < .05). CONCLUSION: The use of the RF needle device for RFA to treat patients with varicose ulcers showed acceptable short-term clinical outcomes with less incidence of trauma, faster recovery, and fewer complications.

12.
J Sci Food Agric ; 104(12): 7464-7475, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38733135

RESUMEN

BACKGROUND: Dietary kelp possesses a variety of useful biological qualities but does not have a toxic effect on the host. In this study, we examine how kelp dietary supplementation enhances the serum biochemistry, intestinal immunity, and metabolism of hybrid snakehead. A total of 810 juvenile hybrid snakeheads (Channa maculata ♀ × Channa argus ♂), with an initial average weight of 11.4 ± 0.15 g, were allocated randomly to three treatment groups (three replicates per group). The fish were fed for 60 days with isonitrogenous and isolipidic diets. The groups were the control group (C) (20% high-gluten flour), the medium replacement group (MR) (10% high-gluten flour and 10% kelp meal), and the full replacement group (FR) (0% high-gluten flour and 15% kelp meal). RESULTS: The results showed that dietary kelp increased the activity of serum antioxidant enzymes significantly and decreased the content of serum malondialdehyde (MDA) in hybrid snakeheads, with significant changes in the FR group (P < 0.05). The intestinal morphology results showed that dietary kelp helped to increase the specific surface area of intestinal villi, which was beneficial for intestinal digestion and absorption. According to transcriptome and quantitative real-time polymerase chain reaction (qRT-PCR) analysis, dietary kelp can improve the expression of intestinal immunity and metabolism-related pathways. Among them, immune-related genes MHC1 and HSPA1 were significantly up-regulated, and IGH, MHC2, and IL-8 were significantly down-regulated (P < 0.05). Lipid metabolism-related genes DGAT2, FABP2, RXRα, and PLPP1 were all significantly up-regulated (P < 0.05). CONCLUSION: Dietary kelp can effectively improve the antioxidant function of hybrid snakeheads, improve intestinal morphology, reduce intestinal inflammation, and promote intestinal lipid synthesis and transportation, thereby improving intestinal immunity and metabolic functions. © 2024 Society of Chemical Industry.


Asunto(s)
Alimentación Animal , Antioxidantes , Intestinos , Kelp , Metabolismo de los Lípidos , Animales , Masculino , Alimentación Animal/análisis , Antioxidantes/metabolismo , Dieta/veterinaria , Suplementos Dietéticos/análisis , Peces/inmunología , Mucosa Intestinal/metabolismo , Mucosa Intestinal/inmunología , Intestinos/inmunología , Intestinos/efectos de los fármacos , Kelp/metabolismo , Kelp/química , Perciformes/inmunología , Perciformes/metabolismo , Perciformes/sangre , Perciformes/genética , Femenino
14.
Environ Geochem Health ; 46(6): 195, 2024 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-38696046

RESUMEN

Air pollution poses a serious challenge to public health and simultaneously exacerbating regional & intergenerational health inequality. This research introduces PM2.5 pollution into the intergenerational health transmission model, and estimates its impact on health inequality in China using Ordered Logit Regression (OLR) and Multi-scale Geographically Weighted Regression (MGWR) model. The results indicate that PM2.5 pollution exacerbate the intergenerational health inequality, and its impacts show inconsistency across family income levels, parental health insurance status, and area of residence. Specifically, it is more difficult for offspring in low-income families to escape from the influence of unhealthy family to become upwardly mobile. Additionally, this health inequality is more significant in households in which at least one parent does not have health insurance. Moreover, the intergenerational solidification caused by PM2.5 pollution is higher in the east and lower in the west. Both the PM2.5 level and solidification effect are high in Beijing-Tianjin-Hebei region, Yangtze River Delta region and central areas of China, which is the focus of air pollution management. These findings suggest that more emphasis should be placed on family-based health promotion. In areas with high PM2.5 pollution levels, resources, subsidies and air pollution protection should be provided for less healthy families with lower incomes and no health insurance.


Asunto(s)
Contaminación del Aire , Material Particulado , Material Particulado/análisis , Humanos , China , Contaminación del Aire/análisis , Disparidades en el Estado de Salud , Contaminantes Atmosféricos/análisis , Factores Socioeconómicos , Exposición a Riesgos Ambientales
15.
Acta Trop ; 255: 107247, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38729330

RESUMEN

Fatty acid binding proteins (FABPs) have emerged as attractive vaccination candidates for several platyhelminth species. To explore the physiological functions of Echinococcus multilocularis (E. multilocularis) FABP, the molecular characteristics of EmFABP1 were analyzed by online software, and the regulatory roles of rEmFABP1 protein in murine macrophages were further investigated. The emfabp1 gene encodes 133 amino acids with the characteristic ß-barrel shape of the cytoplasmic FABP family. Natural EmFABP1 protein is predominantly expressed in protoscoleces tegument and germinal layer cells and is also detected in cyst fluid and exosomes of E. multilocularis. rEmFABP1 protein demonstrated a notable suppression of phagocytic activity and nitric oxide production in murine macrophages. Additionally, the protein was observed to promote apoptosis and regulate cytokine expression in macrophages. These findings suggested that E. multilocularis FABP1 is critical in modifying macrophage physiological processes and that this protein may have immunomodulatory roles during infection.


Asunto(s)
Echinococcus multilocularis , Proteínas de Unión a Ácidos Grasos , Proteínas del Helminto , Macrófagos , Fagocitosis , Animales , Echinococcus multilocularis/genética , Echinococcus multilocularis/inmunología , Macrófagos/inmunología , Macrófagos/parasitología , Ratones , Proteínas de Unión a Ácidos Grasos/genética , Proteínas de Unión a Ácidos Grasos/metabolismo , Proteínas del Helminto/genética , Proteínas del Helminto/metabolismo , Proteínas del Helminto/inmunología , Óxido Nítrico/metabolismo , Apoptosis , Citocinas/metabolismo , Células RAW 264.7
16.
Front Genet ; 15: 1364476, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38818043

RESUMEN

Introduction: Primary ciliary dyskinesia (PCD) is a rare heterogeneous disease caused by abnormalities in motile cilia. In this case report, we first analyzed the clinical and genetic data of a proband who was suspected of having PCD on the basis of her clinical and radiological findings. Methods: Whole-exome sequencing was performed, and a variant in the RSPH4A gene was identified in the proband. Sanger sequencing was used for validation of RSPH4A variants in the proband, her sister, her daughter and her parents. Finally, the phenotypic features of the patient were analyzed, and the current literature was reviewed to better understand the gene variants in PCD related to hearing loss and the clinical manifestations of the RSPH4A variant in PCD. Results: The chief clinical symptoms of this proband included gradual mixed hearing loss, otitis media, anosmia, sinusitis, recurrent cough and infertility. Her DNA sequencing revealed a novel homozygous T to C transition at position 1321 within exon 3 of RSPH4A according to genetic testing results. This variant had never been reported before. The homozygous variant resulted in an amino acid substitution of tryptophan by arginine at position 441 (p.Trp441Arg). The same variant was also found in the proband's sister, and a heterozygous pathogenic variant was identified among immediate family members, including the proband's daughter and parents. Discussion: A literature review showed that 16 pathogenic variants in RSPH4A have been reported. Hearing loss had only been observed in patients with the RSPH4A (c.921+3_6delAAGT) splice site mutation, and the specific type of hearing loss was not described.

17.
Front Oncol ; 14: 1390824, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38800384

RESUMEN

Previous studies indicated that adipose tissue significantly influences cancer invasion and lymphatic metastasis. However, the impact of neck adipose tissue (NAT) on lymph node metastasis associated with head and neck cancer remains ambiguous. Here, we systematically assess the classification and measurement criteria of NAT and evaluate the association of adipose tissue and cancer-associated adipocytes with head and neck cancer. We delve into the potential mechanisms by which NAT facilitate cervical lymph node metastasis in head and neck cancer, particularly through the secretion of adipokines such as leptin, adiponectin, and Interleukin-6. Our aim is to elucidate the role of NAT in the progression and metastasis of head and neck cancer, offering new insights into prevention and treatment.

18.
J Hepatocell Carcinoma ; 11: 927-939, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38803837

RESUMEN

Background & Aims: To examine the association of the history of preoperative antiviral therapy (AVT) with the tumor recurrence and overall survival in HBV-related HCC patients undergoing curative-intent hepatectomy. Methods: Patients who underwent curative-intent hepatectomy for HBV-related HCC between 2014 and 2019 at 4 Chinese hospitals were analyzed. Patients were categorized as having undergone preoperative antiviral therapy (AVT) > 1 year or without antiviral therapy (non-AVT). Patient clinical features, short-term outcomes, overall survival (OS), and time-to-recurrence (TTR) were also compared. Multivariate Cox regression analysis was performed to identify the impact of preoperative AVT on the OS and TTR. Results: Among the 565 patients, 190 (33.6%) underwent continuous AVT > 1 year before surgery. Patients in the non-AVT group were more likely to have worse liver function and more advanced tumor pathological characteristics than those in the AVT group. Postoperative morbidity and mortality rates were comparable between the two groups. Multivariate analyses revealed that a preoperative HBV viral level ≥ 2000 IU/mL was independently associated with poorer TTR (hazard ratio, 1.328; 95% CI, 1.049-1.682) and preoperative AVT was a protective factor for OS (hazard ratio, 0.691; 95% CI, 0.484-0.986). Conclusion: A high preoperative HBV DNA level was an independent risk factor for tumor recurrence. Preoperative AVT > 1 year was associated with better OS and a reduced incidence of tumor recurrence by inhibiting the preoperative level of HBV DNA.

19.
J Med Case Rep ; 18(1): 265, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38816729

RESUMEN

BACKGROUND: Lemierre's syndrome is a fatal and rare disease that is typically characterized by oropharyngeal infection and internal jugular vein thrombosis. Timely institution of appropriate antibiotics is the standard treatment. CASE PRESENTATION: The authors report a case of Lemierre's syndrome. A 67-year-old male patient of Han ethnicity in China suffered from a large inflammatory neck mass involving left internal jugular vein thrombosis diagnosed as Lemierre's syndrome and finally cured by surgical treatment. In addition, a literature review was carried out through PubMed using the terms "Lemierre's syndrome/disease and review, meta-analysis or retrospective study" and "Lemierre's syndrome/disease and internal jugular vein". This search yielded six articles that recorded surgical methods such as drainage, craniotomy, tooth extraction, and ligation of the occluded vein to give clinicians more ideas about the treatment of the Lemierre's syndrome. CONCLUSION: This is the first review to summarize the conditions under which surgical treatment are conducted. Additionally, this is the first report of such a large inflammatory neck mass that was completely cured by surgical resection and internal jugular vein ligation. The authors also offer several conclusions regarding surgical intervention in Lemierre's syndrome for the first time.


Asunto(s)
Venas Yugulares , Síndrome de Lemierre , Humanos , Síndrome de Lemierre/cirugía , Síndrome de Lemierre/diagnóstico , Síndrome de Lemierre/tratamiento farmacológico , Masculino , Venas Yugulares/cirugía , Anciano , Resultado del Tratamiento , Ligadura , Antibacterianos/uso terapéutico , Drenaje , Tomografía Computarizada por Rayos X , Trombosis de la Vena/cirugía
20.
Cont Lens Anterior Eye ; : 102192, 2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38806328

RESUMEN

PURPOSE: To investigate bilateral axial length (AL) growth patterns and interactions of myopic eyes in anisometropic children during unilateral orthokeratology (OK) treatment in their singularly myopic eyes (Eyes1), followed by bilateral treatment when their second eyes (Eyes2) developed myopia. METHODS: This study enrolled 94 eyes from 47 anisometropes (20 males). All patients had undergone monocular OK treatment for > 1 year followed by binocular treatment for > 1 year. Axial growth of Eyes1 and Eyes2 during the first year of monocular treatment (Stage 1), average annual axial elongation during the monocular treatment period, and axial elongation during the first year of binocular treatment (Stage 2) were respectively termed: S1E1 and S1E2, Annual E1 and Annual E2, and S2E1 and S2E2. Associations between AL growth and age, sex, interval time, and ocular parameters were analysed using correlation and generalised estimating equation (GEE) analysis. RESULTS: During the monocular period, Eyes1 showed less AL growth (S1E1: 0.05 ± 0.18 mm; Annual E1: 0.05 ± 0.21 mm) than Eyes2 (S1E2: 0.51 ± 0.24 mm; Annual E2: 0.52 ± 0.25 mm) (all p < 0.001). During the binocular period, there was no significant difference between S2E1 and S2E2(0.21 ± 0.14 mm v. 0.19 ± 0.17 mm, p = 0.951). Between monocular and binocular periods, Eyes1 had significantly higher S2E1 compared to S1E1 and Annual E1 (both p < 0.001), and Eyes2 had significantly lower S2E2 than S1E2 and Annual E2 (both p < 0.001). In the GEE model, spherical equivalent refraction (SER) and between periods interval time showed independently significant associations with AL growth after adjusting for age and sex. CONCLUSION: Orthokeratology can significantly control AL growth in unilateral myopia. AL growth of the initial myopic OK-treated eyes accelerated relative to the monocular period when contralateral eyes developed myopia and assumed OK treatment. During the binocular treatment phase, OK lenses showed moderate and comparable effects on AL retardation across both eyes.

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