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1.
Food Chem ; 458: 140302, 2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38968706

RESUMEN

Texture-modified, multi-nutrient composite foods are essential in clinical treatment for dysphagia individuals. Herein, fibrous whey protein-stabilized emulsion and different crystalline starches (wheat, corn, rice, potato, sweet potato, cassava, mung bean and pea) were used to structure composite emulsion gels (CEGs). These CEGs then underwent 3D printing to explore the feasibility of developing a dysphagia diet. The network of molded CEGs was mainly maintained by hydrophobic interactions and hydrogen bonds. Rice and cassava starches were better suited for structuring soft-textured CEGs. Compared with molded CEGs, 3D printing decreased hydrogen bonds and the compactness of the nano-aggregate structure within the gel system, forming a looser gel network and softening the CEGs. Interestingly, these effects were more pronounced for the CEGs with high initial hardness. This study provided new strategy to fabricate CEGs as dysphagia diet using fibrous whey protein and starch, and to design texture-modified foods for patients using 3D printing.

2.
J Stroke Cerebrovasc Dis ; : 107846, 2024 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-38986969

RESUMEN

OBJECTIVE: To prospectively investigate the associations of healthy lifestyle factors on the risk of stroke and stroke subtypes, as studies exploring this relationship are limited in China. METHODS: The 22,661 participants in the prospective cohort study in Chongqing, China, aged 30-79 years and stroke-free at baseline completed follow-up from 2018 to 2022. We included seven healthy lifestyle factors, including non-smoking, non-excessive drinking, sufficient physical activity, healthy diet, sleep duration of 7-9 h/d, and standard range of body mass index and waist-to-hip ratio. The healthy lifestyle score was calculated based on the number of healthy lifestyle factors. RESULTS: Compared with participants who had scores ≤2, participants with scores ≥6 had an HRs (95% CIs) of 0.56 (0.34, 0.92) for total stroke and 0.53 (0.30, 0.93) for ischemic stroke. For every 1-point increase in healthy lifestyle scores, the HRs (95% CIs) for total stroke and ischemic stroke was 0.86 (0.78, 0.95) and 0.86 (0.77, 0.96), respectively. CONCLUSIONS: Maintaining multiple healthy lifestyle factors can significantly reduce the risk of stroke. As the number of healthy lifestyle factors increased, the stroke risk gradually decreased. Our findings emphasize the significance of comprehensive lifestyle interventions.

3.
Life Sci ; 352: 122898, 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-38997061

RESUMEN

Otolaryngology is an important specialty in the field of surgery that deals with the diagnosis and treatment of the ear, nose, throat, trachea, as well as related anatomical structures. Various otolaryngological disorders are difficult to treat using established pharmacological and surgical approaches. The advent of molecular and cellular therapies led to further progress in this respect. This article reviews the therapeutic strategies of using stem cells, immune cells, and chondrocytes in otorhinolaryngology. As the most widely recognized cell derivatives, exosomes were also systematically reviewed for their therapeutic potential in head and neck cancer, otitis media, and allergic rhinitis. Finally, we summarize the limitations of stem cells, chondrocytes, and exosomes, as well as possible solutions, and provide an outlook on the future direction of cell- and derivative-based therapies in otorhinolaryngology, to offer a theoretical foundation for the clinical translation of this therapeutic modality.

4.
Biomed Pharmacother ; 177: 116885, 2024 Jun 14.
Artículo en Inglés | MEDLINE | ID: mdl-38878633

RESUMEN

Sjögren's syndrome (SS) is an autoimmune disease in which the salivary glands (SGs) and the lacrimal glands (LGs) are affected by lymphocytic infiltration and inflammation. It has been reported that interferon-α (IFN-α) released by plasmacytoid dendritic cells (pDCs) contribute to the pathology of SS, and ART has been shown to effectively ameliorates SS. Despite the current research endeavors, the mechanism of how ART works in the treatment of SS remains to be fully elucidated. Whether ART can treat SS by inhibiting IFN-α remains unclear. This hypothesis was tested both in vivo and in vitro settings during the study. The SS model mice, which were treated with ART, showed amelioration in symptoms related to dryness. RNA-seq analysis revealed strong anti-IFN-α signaling response upon ART treatment. Additional in vitro studies provided further confirmation that the application of ART inhibits the MyD88 protein expression and the nuclear translocation of IRF7. This suggests that the intervention of ART in the TLR-MyD88-IRF7 pathway plays a role in the therapeutic approach for SS. In summary, this study highlighted the therapeutic potential of ART in SS and ART inhibited the IFN-α signaling in pDCs via the TLR-MyD88-IRF7 pathway.

5.
BMC Infect Dis ; 24(1): 647, 2024 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-38937679

RESUMEN

BACKGROUND: Refractory Helicobacter pylori (H. pylori) infection inevitably increase the difficulty of drug selection. Here, we described our experience with the use of a novel tetravalent IgY against H. pylori for the treatment of patients with refractory H. pylori infection. METHODS: Patients were randomly assigned to receive the standard quadruple therapy (amoxicillin, clarithromycin, omeprazole and bismuth potassium citrate ) for 2 weeks or 250 mg of avian polyclonal IgY orally twice a day for 4 weeks. The binding efficacy of IgY to H. pylori antigens was detected by western blotting13. C-urea breath test was performed to evaluate the eradication therap's efficacy. The side effects of IgY were evaluated via various routine tests. The questionnaire was used to gather clinical symptoms and adverse reactions. RESULTS: Western blot analysis showed that tetravalent IgY simultaneously bind to VacA, HpaA, CagA and UreB of H. pylori. Tetravalent IgY had an eradication rate of 50.74% in patients with refractory H. pylori and an inhibition rate of 50.04% against DOB (delta over baseline) of 13C-urea. The symptom relief rate was 61.76% in thirty-four patients with clinical symptoms, and no adverse reactions were observed during tetravalent IgY treatment period. CONCLUSIONS: Polyclonal avian tetravalent IgY reduced H. pylori infection, and showed good efficacy and safety in the treatment of refractory H. pylori infection patients, which represented an effective therapeutic option of choice for patients with refractory H. pylori infection.


Asunto(s)
Antibacterianos , Infecciones por Helicobacter , Helicobacter pylori , Inmunoglobulinas , Humanos , Infecciones por Helicobacter/tratamiento farmacológico , Masculino , Femenino , Helicobacter pylori/efectos de los fármacos , Persona de Mediana Edad , Inmunoglobulinas/uso terapéutico , Inmunoglobulinas/administración & dosificación , Adulto , Antibacterianos/uso terapéutico , Antibacterianos/efectos adversos , Resultado del Tratamiento , Anciano , Quimioterapia Combinada , Claritromicina/uso terapéutico , Amoxicilina/uso terapéutico , Amoxicilina/administración & dosificación , Adulto Joven , Anticuerpos Antibacterianos/uso terapéutico
6.
NPJ Sci Food ; 8(1): 37, 2024 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-38902297

RESUMEN

Bitter gourd has numerous health-promoting effects on the human body. However, its use has been greatly limited due to its poor acceptance by consumers, resulting from its strong bitterness. This study investigated the effects of five wall materials, namely, soybean protein isolate, gum arabic, maltodextrin, resistant starch, and a soybean lecithin calcium caseinate mixture, on the physicochemical properties of spray-dried bitter gourd powders. The results showed that all five wall materials reduced the moisture content, water activity, browning degree, agglomeration, and bitterness of the spray-dried bitter gourd powder. Maltodextrin was found to be the most effective at reducing water activity, while soybean protein isolate was best at protecting the colour, and the soybean lecithin calcium caseinate mixture was best at reducing hygroscopicity and masking bitterness. Additionally, all five wall materials improved the preservation of flavonoids, saponins, and vitamin C, with soybean protein isolate being the most effective in improving the total flavonoid retention ratio and the soybean lecithin calcium caseinate mixture being the best in improving the retention ratios of total saponins and vitamin C. The spray-dried bitter gourd powder prepared with soybean protein isolate had the highest antioxidant activity and α-glucosidase inhibitory activity. These results are significant for understanding the relationship between wall materials and the physicochemical properties of spray-dried powder. Additionally, these materials provide bitter gourd product manufacturers with useful guidance for producing high-quality products. Furthermore, the results could provide useful insights for processing fruits with similar product characteristics, thus contributing to the enrichment of food processing knowledge.

7.
Nutrients ; 16(11)2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38892568

RESUMEN

(1) Background: There is little known about the relationship between Dietary Approaches to Stop Hypertension (DASH) pattern and diabetes in cohort studies, and the dietary patterns in the Chongqing natural population are unknown. (2) Methods: 14,176 Chinese adults, aged 30-79 years old, participated in this prospective study, from September 2018 to October 2023. A dietary assessment was conducted using a food frequency questionnaire, and three main dietary patterns were extracted from the principal component analysis. DASH patterns were calculated by standards. (3) Results: During the 4.64 y follow-up, 875 developed diabetes (11.3/1000 person-years). Each posteriori diet pattern is named after its main dietary characteristics (meat pattern, dairy products-eggs pattern, and alcohol-wheat products pattern). The high consumption of DASH pattern diet reduced the risk of diabetes (Q5 vs. Q1 HR: 0.71; 95% CI: 0.40-0.56) while high consumption of alcohol-wheat product pattern diet was associated with a high risk of diabetes (Q5 vs. Q1 HR: 1.32; 95% CI: 1.04, 1.66). The other two dietary patterns were not associated with diabetes. In subgroup analysis, there was an interaction between DASH pattern and sex (P for interaction < 0.006), with a strong association in females. (4) Conclusions: DASH pattern may be associated with a reduced new-onset diabetes risk and Alcohol-wheat products pattern may be positively associated with new-onset diabetes. These findings may provide evidence for making dietary guidelines in southwest China to prevent diabetes.


Asunto(s)
Diabetes Mellitus , Humanos , Persona de Mediana Edad , Femenino , China/epidemiología , Masculino , Estudios Prospectivos , Adulto , Anciano , Diabetes Mellitus/epidemiología , Factores de Riesgo , Dieta/estadística & datos numéricos , Enfoques Dietéticos para Detener la Hipertensión , Conducta Alimentaria , Etnicidad/estadística & datos numéricos , Patrones Dietéticos
8.
Plant Cell Rep ; 43(7): 163, 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38842544

RESUMEN

KEY MESSAGE: Calcium polypeptide plays a key role during cadmium stress responses in rice, which is involved in increasing peroxidase activity, modulating pectin methylesterase activity, and regulating cell wall by reducing malondialdehyde content. Cadmium (Cd) contamination threatens agriculture and human health globally, emphasizing the need for sustainable methods to reduce cadmium toxicity in crops. Calcium polypeptide (CaP) is a highly water-soluble small molecular peptide acknowledged for its potential as an organic fertilizer in promoting plant growth. However, it is still unknown whether CaP has effects on mitigating Cd toxicity. Here, we investigated the effect of CaP application on the ability to tolerate toxic Cd in rice. We evaluated the impact of CaP on rice seedlings under varying Cd stress conditions and investigated the effect mechanism of CaP mitigating Cd toxicity by Fourier transform infrared spectroscopy (FTIR), fluorescent probe dye, immunofluorescent labeling, and biochemical analysis. We found a notable alleviation of Cd toxicity by reduced malondialdehyde content and increased peroxidase activity. In addition, our findings reveal that CaP induces structural alterations in the root cell wall by modulating pectin methylesterase activity. Altogether, our results confirm that CaP not only promoted biomass accumulation but also reduced Cd concentration in rice. This study contributes valuable insights to sustainable strategies for addressing Cd contamination in agricultural ecosystems.


Asunto(s)
Cadmio , Malondialdehído , Oryza , Estrés Oxidativo , Pectinas , Oryza/efectos de los fármacos , Oryza/metabolismo , Cadmio/toxicidad , Estrés Oxidativo/efectos de los fármacos , Pectinas/metabolismo , Malondialdehído/metabolismo , Proteínas de Plantas/metabolismo , Hidrolasas de Éster Carboxílico/metabolismo , Pared Celular/metabolismo , Pared Celular/efectos de los fármacos , Plantones/efectos de los fármacos , Plantones/metabolismo , Plantones/crecimiento & desarrollo , Péptidos/metabolismo , Raíces de Plantas/efectos de los fármacos , Raíces de Plantas/metabolismo , Espectroscopía Infrarroja por Transformada de Fourier
9.
Arthrosc Tech ; 13(4): 102924, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38690343

RESUMEN

At present, the repair pattern of upper third of subscapularis tendon partial-thickness tears (upper-third tendon tears) is performed in the glenohumeral joint and conventional subacromial viewing portal, but the visualization of subscapularis tendon and footprint is poor when using a 30° scope. The modified subacromial viewing portal presented in this Technical Note is a modified surgical technique for the repair of upper-third tendon tears. Since the scope forms an angle of 70° with the subscapularis tendon and footprint of lesser tuberosity, satisfactory visualization can be obtained when using 30° scope; the predesigned surgical portal and working space without bony barrier can offer a smooth surgical procedure. Our surgical technique is described in pearls, pitfalls, advantages, and disadvantages.

10.
J Craniofac Surg ; 2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38710038

RESUMEN

BACKGROUND: Microgenia and the accompanying plump cheeks or hamster-like facial contour are all unattractive appearances among the Asian. Genioplasty with autogenous bone grafting is one of the effective ways to improve microgenia, in which a suitable donor area with less additional damage, lower infection rate, and more excellent effect is crucial. METHODS: Patients who had undergone genioplasty and autogenous external oblique line grafting (G-EOL) were followed up. The operation-related complications, preoperative, and long-term follow-up 3-dimensional spiral computed tomography (3D-CT) were collected and analyzed. RESULTS: Eight female patients who had received G-EOL and received 1 to 3 years of follow-up were included in this study. There were no short-term or long-term complications. CT data of bone of 8 patients and CT data of soft tissue of 6 patients at the preoperative and long term were compared. Through comparing CT data, the width at the level of the intersection of EOL and mandibular body, and the protrusion of the bony chin had improved significantly; the P values were all <0.001. Through measuring the soft tissue and analyzing the data, the ratio of lower and middle facial width, and the distance from the lower lip to Ricketts' line were all improved, with the P values 0.042 and 0.001, respectively. CONCLUSIONS: For patients with microgenia and hamster-like facial contour, the combination of genioplasty and autogenous external oblique line grafting is innovative and effective in improving both the front and side contour of the lower face simultaneously, with excellent stability, bone healing, and low complication rates.

11.
Food Chem ; 454: 139805, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-38810442

RESUMEN

The poor thermal stability and ion tolerance of whey protein hydrolysates (WPH) restrict its application in emulsions, while glycosylation shows potential benefits in improving WPH stability. However, the relationship between saccharides with different Mw and the glycosylation behavior of WPH rich in short peptides is unclear. In response, the effect of different saccharides on glycosylated WPH rich in short peptides and its emulsion stability were investigated. Grafted small Mw saccharides were more beneficial to the emulsion stability of WPH. Specifically, grafting xylose effectively inhibited 121 °C sterilization and 5 mM CaCl2-induced coalescence of WPH emulsion (687.50 nm) by comprehensively enhancing steric hindrance, conformational flexibility and electrostatic repulsion, and dissociating large aggregates into small aggregates. Conversely, grafting maltodextrin (30,590 Da) reduced thermal stability of WPH emulsion (4791.80 nm) by steric shielding and bridging flocculation. These findings provide new sights into glycosylation mechanism for WPH and achieving its application in nutritional emulsions.


Asunto(s)
Calcio , Emulsiones , Calor , Hidrolisados de Proteína , Proteína de Suero de Leche , Proteína de Suero de Leche/química , Emulsiones/química , Glicosilación , Hidrolisados de Proteína/química , Calcio/química , Tamaño de la Partícula
12.
J Craniofac Surg ; 2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38722555

RESUMEN

OBJECTIVE: The primary objective of this study was to investigate potential mechanisms and explore hub genes of craniofacial microsomia (CFM) patients associated with congenital heart defects (CHD). METHODS: Initially, the authors acquired target gene data related to CFM and congenital cardiac anomalies. Subsequently, the authors established a protein-protein interaction (PPI) network. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses and molecular complex detection were conducted using Metascape. Finally, the authors hub genes were screened by the cytoHubba plugin. RESULTS: A total of 43 CFM genes and 120 optimal CHD candidate genes were selected. The PPI networks for pathogenic genes contained 163 nodes and 1179 edges. Functional enrichment analysis largely focused on tissue formation and development. Five modules were identified from the PPI network, and 7 hub genes were screened out. The genes most relevant to CFM associated with congenital cardiac anomalies pathogenesis included fibroblast growth factor 3, GATA binding protein 3, nuclear factor of activated T cells 1, histone cell cycle regulator, EPAS1, mitogen-activated protein kinase 1, and CRK like proto-oncogene, adaptor protein. CONCLUSIONS: This study identified some significant hub genes, pathways, and modules of CFM associated with CHD by bioinformatics analyses. Our findings indicate that gene subfamilies fibroblast growth factor 3, GATA binding protein 3, nuclear factor of activated T cells 1, histone cell cycle regulator, EPAS1, mitogen-activated protein kinase 1, and CRK like proto-oncogene, adaptor protein may have had significant involvement in both CFM and CHD.

13.
Int J Rheum Dis ; 27(4): e15131, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38563679

RESUMEN

OBJECTIVE: To evaluate the incidence and associated factors of initial and recurrent severe infections in hospitalized patients with systemic lupus erythematosus (SLE). METHODS: SLE patients that first hospitalized between 2010 and 2021 were studied retrospectively and divided into SLE with and without baseline severe infection groups. The primary outcome was the occurrence of severe infection during follow-up. Cox regression models were used to calculate the hazard ratio (HR) and 95% confidence interval (CI) for initial and recurrent severe infections. RESULTS: Among 1051 first hospitalized SLE patients, 164 (15.6%) had severe infection on admission. During a median follow-up of 4.1 years, 113 (10.8%) patients reached severe infection outcomes, including 27 with reinfection and 86 with initial severe infection (16.5% vs. 9.7%, p = .010). Patients with baseline severe infection had a higher cumulative incidence of reinfection (p = .007). After adjusting for confounding factors, renal involvement, elevated serum creatinine, hypoalbuminemia, cyclophosphamide, and mycophenolate mofetil treatment were associated with an increased risk of severe infection, especially initial severe infection. Low immunoglobulin, anti-dsDNA antibody positivity, and cyclophosphamide use significantly increased the risk of recurrent severe infection, with adjusted HR (95% CI) of 3.15 (1.22, 8.14), 3.60 (1.56, 8.28), and 2.14 (1.01, 5.76), respectively. Moreover, baseline severe infection and low immunoglobulin had a multiplicative interaction on reinfection, with adjusted RHR (95% CI) of 3.91 (1.27, 12.09). CONCLUSION: In this cohort of SLE, patients with severe infection had a higher risk of reinfection, and low immunoglobulin, anti-dsDNA antibody positivity, and cyclophosphamide use were independent risk factors for recurrent severe infection.


Asunto(s)
Lupus Eritematoso Sistémico , Reinfección , Humanos , Estudios Retrospectivos , Ciclofosfamida/efectos adversos , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Lupus Eritematoso Sistémico/epidemiología , Factores de Riesgo , Inmunoglobulinas , China/epidemiología
14.
Clin. transl. oncol. (Print) ; 26(4): 966-976, Abr. 2024. ilus
Artículo en Inglés | IBECS | ID: ibc-VR-59

RESUMEN

Objective: There is a lack of research investigating racial disparity in newly diagnosed head and neck squamous cell carcinoma with isolated bone metastases (HNSCC-BM). This study aims to investigate the clinical characteristics and prognostic factors in HNSCC-BM patients from different racial backgrounds to aid clinical decision making and management. Methods: We retrieved data from the Surveillance, Epidemiology, and End Results (SEER) database for 345 cases of HNSCC-BM that were diagnosed between 2010 and 2017. Survival was compared using univariate and multivariate Cox proportional hazards models, Kaplan–Meier analysis, and log-rank tests. We also used propensity score matching to adjust for confounders. Results: In white patients, those who were over 40 years of age had a significantly shorter survival (HR, 4.49; 95% CI 1.03–19.56; P < 0.05). Female black patients were found to survive longer compared to male patients (HR, 0.34; 95% CI 0.15–0.76; P < 0.01). Single (never married) Asians had shorter survival than married Asians (HR, 4.68; 95% CI 1.34–16.41; P < 0.05). In all three racial groups, patients who received radiotherapy in addition to chemotherapy did not survive longer than those receiving chemotherapy (P > 0.05). In Asian patients, those who underwent surgery at the primary site combined with chemoradiotherapy had significantly better survival outcomes than those who received chemoradiotherapy (HR: 0.10, 95% CI 0.01–0.88; P = 0.01). Conclusion: Prognostic factors differ between HNSCC-BM patients from different racial backgrounds.(AU)


Asunto(s)
Humanos , Masculino , Femenino , Metástasis de la Neoplasia , Carcinoma de Células Escamosas de Cabeza y Cuello , Pronóstico , Supervivientes de Cáncer
15.
J Org Chem ; 89(8): 5485-5490, 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38554099

RESUMEN

1,1,2,2-Tetrafluoroethyl-containing molecules are of potential importance in drug discovery, but the efficient synthesis of such compounds is still relatively unexplored due to the lack of readily available reagents for the incorporation of the HCF2CF2 group. Herein, we introduce a new reagent, zinc 1,1,2,2-tetrafluoroethanesulfinate, which can be useful for the oxidative tetrafluoroethylation of arylboronic acids and heteroarenes as well as for a novel photoredox, three component hydro-tetrafluoroethylation of two alkenes of complementary reactivity.

16.
Arthritis Rheumatol ; 76(7): 1096-1108, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38433594

RESUMEN

OBJECTIVE: The goal was to investigate the role and intracellular regulatory mechanisms of double-negative T (DNT) cells in the pathogenesis of systemic lupus erythematosus (SLE). METHODS: DNT cells were assessed in murine models, patients with SLE, and controls using flow cytometry (FCM). DNT cells from either resiquimod (R848) or vehicle-treated C57BL/6 (B6) mice were cultured with B cells from R848-treated mice to explore functions. Differential mechanistic target of rapamycin (mTOR) pathway signaling in DNT cells measured using FCM and quantitative polymerase chain reaction was validated by rapamycin inhibition. Candidate lipid metabolites detected using liquid chromatography with electrospray ionization mass spectrometry/mass spectrometry were functionally assessed in DNT cell cultures. RESULTS: DNT cells were markedly increased in both spontaneous and induced mouse lupus models and in patients with SLE. Expanded DNT cells from R848-treated B6 mice produced elevated interleukin (IL)-17A and IgG with increased germinal center B (GCB) cells. Expansion of DNT cells associated with activation of mTORC1 pathway that both IL-17A levels and the number of DNT cells exhibited dose-dependent reduction with rapamycin treatment. Lipidomics studies revealed differential patterns of lipid metabolites in T cells of R848-treated mice. Among candidate metabolites, elevated phosphatidic acid (PA) that was partially controlled by phospholipase D2 increased the expression of the mTORC1 downstream target p-S6 and positively expanded IL-17A-producing DNT cells. Similarly, elevated proportions of circulating DNT cells in patients with SLE correlated with disease activity and proteinuria, and IL-17A secretion was elevated after in vitro PA stimulation. CONCLUSION: The accumulation of PA in T cells could activate the mTORC1 pathway, promoting DNT cell expansion and IL-17A secretion, resulting in GCB cell abnormalities in lupus.


Asunto(s)
Interleucina-17 , Lupus Eritematoso Sistémico , Diana Mecanicista del Complejo 1 de la Rapamicina , Ácidos Fosfatidicos , Transducción de Señal , Animales , Lupus Eritematoso Sistémico/inmunología , Lupus Eritematoso Sistémico/metabolismo , Interleucina-17/metabolismo , Ácidos Fosfatidicos/farmacología , Diana Mecanicista del Complejo 1 de la Rapamicina/metabolismo , Ratones , Humanos , Ratones Endogámicos C57BL , Femenino , Modelos Animales de Enfermedad , Linfocitos T/metabolismo , Linfocitos T/inmunología
18.
Heliyon ; 10(4): e26743, 2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38434094

RESUMEN

Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants in the CCR4-NOT transcription complex, subunit 1 gene (CNOT1). However, the pathophysiologic mechanism of the Vissers-Bodmer Syndrome remains unclear. Notably, this syndrome has not been previously reported in the Chinese. In this study, we utilized whole exome sequencing to identify three novel variants in the CNOT1 gene, encompassing one frameshift variant and two missense variants, in three Chinese patients mainly presenting with developmental delay, intellectual disability and/or autism. Interestingly, three patients exhibited novel manifestations including spina bifida occulta, horse-shoe kidney and café-au-lait spot. The frameshift variant, p.Gly172Alafs*5, occurring de novo, leading to a premature stop codon in the protein, was classified into pathogenic. Two missense variants c.3451A > G (p.Asn1151Asp) and c.557C > T (p.Ser186Phe) were predicted to be deleterious by multiple prediction algorithms with high conservation among a variety of species. Additionally, three-dimensional structure modeling and predicting indicated the substitution of the mutated amino acids would decrease the stability of CNOT1 protein. Given that CNOT1 is a relatively novel disease gene, we evaluated the gene-disease validity following ClinGen Standard Operating Procedure. The existing evidence substantiates a "Definitive" level of gene-disease relationship. The genetic findings provide a reliable basis for the genetic counseling of the family reproduction. Moreover, our results expand the genetic and phenotypic spectrum of CNOT1-related Vissers-Bodmer Syndrome.

19.
BMJ Open ; 14(2): e076867, 2024 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-38365296

RESUMEN

OBJECTIVES: We aimed to explore the association between age at menarche (AAM) and ovarian hyperstimulation syndrome (OHSS) in fresh in vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) cycles. DESIGN: A retrospective cohort study. SETTING: Data were collected from a large obstetrics and gynaecology hospital in Sichuan, China. PARTICIPANTS: This study included 17 419 eligible women aged ≤40 years who underwent the first IVF/ICSI cycles from January 2015 to December 2021. Women were divided into three groups according to their AAM: ≤12 years (n=5781), 13-14 years (n=9469) and ≥15 years (n=2169). RESULTS: The means of age at recruitment and AAM were 30.4 years and 13.1 years, respectively. Restricted cubic spline models suggested that early menarche age increased the risk of OHSS. The multivariable logistic analysis showed that women with menarche age ≤12 years were more likely to suffer from OHSS (OR 1.321, 95% CI 1.113 to 1.567) compared with those aged 13-14 years among the whole cohort. This significant relationship remained in women administered with different ovarian stimulation protocols and gonadotrophin doses. When stratified by female age, this correlation was presented only in patients aged ≤30 years (OR 1.362, 95% CI 1.094 to 1.694). And the mediation analysis showed that the relationship between AAM and OHSS was totally mediated by antral follicle counts (AFC). CONCLUSION: Menarche age earlier than 12 years may increase the OHSS risk in women aged ≤30 years through the mediation of AFC. More prospective studies are required to verify the results.


Asunto(s)
Síndrome de Hiperestimulación Ovárica , Masculino , Embarazo , Femenino , Humanos , Adulto , Síndrome de Hiperestimulación Ovárica/epidemiología , Síndrome de Hiperestimulación Ovárica/etiología , Inyecciones de Esperma Intracitoplasmáticas/métodos , Menarquia , Estudios Retrospectivos , Índice de Embarazo , Semen , Fertilización In Vitro/efectos adversos , Fertilización In Vitro/métodos , Inducción de la Ovulación/efectos adversos , Inducción de la Ovulación/métodos
20.
Arthrosc Tech ; 13(1): 102810, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38312863

RESUMEN

At present, the suture bridge is a widely used surgical pattern in the treatment of supraspinatus tendon tear, but the shortcomings of a suture bridge, including expensive lateral-row anchor and increased type 2 retear rate, is obvious. The double-pulley suture-bridge described in this Technical Note uses a double-loaded suture anchor (medial-row anchor) as lateral-row anchor instead of traditional lateral-row anchor, combined with double-pulley technology forming suture-bridge in treatment of supraspinatus tendon tears. The surgical technique is described in pearls, pitfalls, advantages, and disadvantages.

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