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1.
BMC Genomics ; 25(1): 607, 2024 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-38886662

RESUMEN

BACKGROUND: Chronic Obstructive Pulmonary Disease (COPD) describes a group of progressive lung diseases causing breathing difficulties. While COPD development typically involves a complex interplay between genetic and environmental factors, genetics play a role in disease susceptibility. This study used genome-wide association studies (GWAS) and polygenic risk score (PRS) to elucidate the genetic basis for COPD in Taiwanese patients. RESULTS: GWAS was performed on a Taiwanese COPD case-control cohort with a sample size of 5,442 cases and 17,681 controls. Additionally, the PRS was calculated and assessed in our target groups. GWAS results indicate that although there were no single nucleotide polymorphisms (SNPs) of genome-wide significance, prominent COPD susceptibility loci on or nearby genes such as WWTR1, EXT1, INTU, MAP3K7CL, MAMDC2, BZW1/CLK1, LINC01197, LINC01894, and CFAP95 (C9orf135) were identified, which had not been reported in previous studies. Thirteen susceptibility loci, such as CHRNA4, AFAP1, and DTWD1, previously reported in other populations were replicated and confirmed to be associated with COPD in Taiwanese populations. The PRS was determined in the target groups using the summary statistics from our base group, yielding an effective association with COPD (odds ratio [OR] 1.09, 95% confidence interval [CI] 1.02-1.17, p = 0.011). Furthermore, replication a previous lung function trait PRS model in our target group, showed a significant association of COPD susceptibility with PRS of Forced Expiratory Volume in one second (FEV1)/Forced Vital Capacity (FCV) (OR 0.89, 95% CI 0.83-0.95, p = 0.001). CONCLUSIONS: Novel COPD-related genes were identified in the studied Taiwanese population. The PRS model, based on COPD or lung function traits, enables disease risk estimation and enhances prediction before suffering. These results offer new perspectives on the genetics of COPD and serve as a basis for future research.


Asunto(s)
Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Polimorfismo de Nucleótido Simple , Enfermedad Pulmonar Obstructiva Crónica , Enfermedad Pulmonar Obstructiva Crónica/genética , Humanos , Taiwán , Masculino , Femenino , Anciano , Herencia Multifactorial , Estudios de Casos y Controles , Persona de Mediana Edad , Factores de Riesgo , Sitios Genéticos , Pueblo Asiatico/genética , Puntuación de Riesgo Genético
2.
Am J Physiol Endocrinol Metab ; 326(5): E547-E554, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38363735

RESUMEN

Type 2 diabetes (T2D) prevalence in adults at a younger age has increased but the disease status may go unnoticed. This study aimed to determine whether the onset age and subsequent diabetic complications can be attributed to the polygenic architecture of T2D in the Taiwan Han population. A total of 9,627 cases with T2D and 85,606 controls from the Taiwan Biobank were enrolled. Three diabetic polygenic risk scores (PRSs), PRS_EAS and PRS_EUR, and a trans-ancestry PRS (PRS_META), calculated using summary statistic from East Asian and European populations. The onset age was identified by linking to the National Taiwan Insurance Research Database, and the incidence of different diabetic complications during follow-up was recorded. PRS_META (7.4%) explained a higher variation for T2D status. And the higher percentile of PRS is also correlated with higher percentage of T2D family history and prediabetes status. More, the PRS was negatively associated with onset age (ß = -0.91 yr), and this was more evident among males (ß = -1.11 vs. -0.76 for males and females, respectively). The hazard ratio of diabetic retinopathy (DR) and diabetic foot were significantly associated with PRS_EAS and PRS_META, respectively. However, the PRS was not associated with other diabetic complications, including diabetic nephropathy, cardiovascular disease, and hypertension. Our findings indicated that diabetic PRS which combined susceptibility variants from cross-population could be used as a tool for early screening of T2D, especially for high-risk populations, such as individuals with high genetic risk, and may be associated with the risk of complications in subjects with T2D. NEW & NOTEWORTHY Our findings indicated that diabetic polygenic risk score (PRS) which combined susceptibility variants from Asian and European population affect the onset age of type 2 diabetes (T2D) and could be used as a tool for early screening of T2D, especially for individuals with high genetic risk, and may be associated with the risk of diabetic complications among people in Taiwan.


Asunto(s)
Diabetes Mellitus Tipo 2 , Retinopatía Diabética , Masculino , Adulto , Femenino , Humanos , Diabetes Mellitus Tipo 2/genética , Puntuación de Riesgo Genético , Taiwán , Predisposición Genética a la Enfermedad , Edad de Inicio , Polimorfismo de Nucleótido Simple , Estudio de Asociación del Genoma Completo , Factores de Riesgo
3.
Ann Surg Oncol ; 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39266795

RESUMEN

BACKGROUND: For clinically node-negative early breast cancer patients, sentinel lymph node biopsy (SLNB) using dual localization with blue dye and radioisotope (RI) is currently standard of care. Documented disadvantages with these tracers have prompted exploration of alternative agents such as fluorescent indocyanine green (ICG), which demonstrates high detection rates combined with other tracers. Results of a randomized study evaluating ICG as a single tracer for SLN identification are presented. METHODS: Overall, 100 patients with unilateral, clinically node-negative, biopsy-proven invasive breast cancer (≤5 cm) scheduled for SLNB were recruited in two separate randomized cohorts, with 50 patients receiving ICG alone. Cohort 1 received ICG alone (n = 25) or combined with RI [Technetium99] (n = 25), while Cohort 2 received ICG alone (n = 25) or combined with blue dye (n = 25). The primary outcome was sensitivity for SLN identification. RESULTS: Among evaluable patients (n = 97), the overall SLN identification rate was 96.9% (ICG alone = 97.9%; ICG + RI = 100%; ICG + blue dye = 92%). Node positivity rates were 14.9% for ICG alone, 16% for ICG combined with RI, and 20% for ICG combined with blue dye. There were no significant differences (p < 0.05) in performance parameters, with ICG alone being non-inferior to tracer combinations for procedural node positivity rates when adjusted for specific factors. CONCLUSION: These results support potential use of ICG as a sole tracer agent for routine SLNB, thereby avoiding disadvantages of RI and/or blue dye. The latter can be safely withheld as a co-tracer without compromising detection of positive nodes in primary surgical patients.

4.
Br J Surg ; 111(2)2024 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-38298070

RESUMEN

BACKGROUND: To restore sensation after breast reconstruction, a modified surgical approach was employed by identifying the cut fourth intercostal lateral cutaneous branch, elongating it with intercostal nerve grafts, and coapting it to the innervating nerve of the flap or by using direct neurotization of the spared nipple/skin. METHODS: This was a retrospective case-control study including 56 patients who underwent breast neurotization surgery. Breast operations included immediate reconstruction after nipple-sparing mastectomy (36 patients), skin-sparing mastectomy (8 patients), and delayed reconstruction with nipple preservation (7 patients) or without nipple preservation (5 patients). Patients who underwent breast reconstruction without neurotization were included as the non-neurotization negative control group. The contralateral normal breasts were included as positive controls. RESULTS: The mean(s.d.) monofilament test values were 0.07(0.10) g for the positive control breasts and 179.13(143.31) g for the breasts operated on in the non-neurotization group. Breasts that underwent neurotization had significantly better sensation after surgery, with a mean(s.d.) value of 35.61(92.63) g (P < 0.001). The mean(s.d.) sensory return after neurotization was gradual; 138.17(143.65) g in the first 6 months, 59.55(116.46) g at 7-12 months, 14.54(62.27) g at 13-18 months, and 0.37(0.50) g at 19-24 months after surgery. Two patients had accidental rupture of the pleura, which was repaired uneventfully. One patient underwent re-exploration due to a lack of improvement 1.5 years after neurotization. CONCLUSION: Using the lateral cutaneous branch of the intercostal nerve as the innervating stump and elongating it with intercostal nerve grafts is a suitable technique to restore sensation after mastectomy. This method effectively innervates reconstructed breasts and spares the nipple/skin with minimal morbidity.


Asunto(s)
Neoplasias de la Mama , Mamoplastia , Mastectomía Subcutánea , Transferencia de Nervios , Humanos , Femenino , Mastectomía/métodos , Neoplasias de la Mama/cirugía , Pezones/cirugía , Estudios de Casos y Controles , Estudios Retrospectivos , Nervios Intercostales/cirugía , Mamoplastia/métodos , Mastectomía Subcutánea/métodos
5.
BMC Cancer ; 24(1): 1072, 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39210299

RESUMEN

BACKGROUND: The free deep inferior epigastric artery perforator (DIEP) flap is the gold standard in autologous breast reconstruction. Asian patients often present with a smaller body mass index with relatively insufficient tissue. To restore appropriate symmetry, a larger flap inset ratio must be transferred. Supercharging of the second vein or inclusion of bilateral pedicle is commonly required. Current paradigm shifts in mastectomy has also resulted in more minimally invasive surgeries (MIS) espousing smaller lateral incisions, leading to a significant change in available recipient vessels. This study aimed to demonstrate our experience in changing strategies of DIEP flaps following the evolution of mastectomy techniques. METHODS: Between October 2008 and March 2022, retrospective data was gathered for 278 patients who underwent breast reconstruction surgery utilizing DIEP flaps by a single plastic surgeon. These patients were divided into two distinct groups based on their operation dates, with November 2018 marking a pivotal moment when the first MIS, including endoscopic-assisted and robot-assisted mastectomy, was introduced. RESULTS: A total of 278 patients were included. Bipedicle vessel utilization for flap supercharge saw a significant increase (15.9% vs. 7%, p < 0.001), while the use of the superior inferior epigastric vein (SIEV) decreased (5.1% vs. 17.1%, p = 0.01). Preceding MIS, SIEV was the primary choice for flap supercharge (96.0%, p < 0.001), whereas post-introduction, the contralateral DIEP pedicle gained prominence (75.9%, p < 0.001). There was also an increased utilization of thoracodorsal artery and lateral thoracic artery following MIS. CONCLUSION: These findings underscore the profound impact of MIS on the strategic choices made in DIEP flap-based breast reconstruction. TRIAL REGISTRATION: This study is retrospectively registered on ClinicalTrials.gov (NCT06321549).


Asunto(s)
Neoplasias de la Mama , Arterias Epigástricas , Mamoplastia , Mastectomía , Procedimientos Quirúrgicos Mínimamente Invasivos , Colgajo Perforante , Adulto , Anciano , Femenino , Humanos , Persona de Mediana Edad , Neoplasias de la Mama/cirugía , Estudios Transversales , Arterias Epigástricas/cirugía , Arterias Epigástricas/trasplante , Mamoplastia/métodos , Mastectomía/métodos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Estudios Retrospectivos , Adulto Joven
6.
J Magn Reson Imaging ; 59(3): 825-834, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37338016

RESUMEN

BACKGROUND: Few studies assessed myocardial inflammation using Cardiovascular Magnetic Resonance Imaging in Kawasaki disease (KD) patients. PURPOSE: To quantify myocardial edema in KD patients using T2 mapping and explore the independent predictors of T2 values. STUDY TYPE: Prospective. SUBJECTS: Ninety KD patients including 40 in acute phase (26 males, 65.0%) and 50 in chronic phase (34 males, 68.0%). Thirty-one healthy volunteers (21 males, 70.0%). FIELD STRENGTH/SEQUENCE: 3.0 T T2-weighted Turbo Spin Echo-Short Time of Inversion Recovery sequence, True fast imaging with steady precession flash sequence and fast low-angle shot 3D spoiled gradient echo sequence. ASSESSMENT: T2 values were compared among KD groups and controls. STATISTICAL TEST: Student's t test and Fisher's exact test; One-way analysis of variance; Pearson correlation analysis; Receiver operating curve analysis; Multivariable linear regression. RESULTS: Global T2 value of KD patients in acute phase was the highest, followed by those of chronic-phase patients and controls (38.83 ± 2.41 msec vs. 37.55 ± 2.28 msec vs. 36.05 ± 1.64 msec). Regional T2 values showed a same trend. There were no significant differences in global and regional T2 values between KD patients with and without coronary artery (CA) dilation, no matter in acute or chronic phase (all KD patients: P = 0.51, 0.51, 0.53, 0.72; acute KD: P = 0.61, 0.37, 0.33, 0.83; chronic KD: P = 0.65, 0.79, 0.62, 0.79). No significant difference was observed in global T2 values between KD patients with Z score > 5.0 and 2.0 < Z score ≤ 5.0 (P = 0.65). Multivariate analysis demonstrated that stage of disease (ß = -0.123) and heart rate (ß = 0.280) were independently associated with global T2 values. DATA CONCLUSION: The degree of myocardial edema was more severe in acute-phase than in chronic-phase KD patients. Myocardial edema persists in patients regardless of the existence or degree of CA dilation. EVIDENCE LEVEL: 2 TECHNICAL EFFICACY: Stage 2.


Asunto(s)
Síndrome Mucocutáneo Linfonodular , Masculino , Niño , Humanos , Estudios Prospectivos , Miocardio/patología , Imagen por Resonancia Magnética/métodos , Edema
7.
Diabetes Obes Metab ; 2024 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-39171569

RESUMEN

AIM: We aimed to investigate the long-term impact of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) on thyroid function, cardiovascular health, renal outcomes and adverse events in individuals with obesity and without type 2 diabetes (T2D). MATERIALS AND METHODS: In this observational cohort study, we used propensity score matching to construct comparable cohorts of individuals with obesity and without T2D who were new to GLP-1 RA treatment and those who did not receive glucose-lowering medications. In total, 3,729,925 individuals with obesity were selected from the TriNetX Global Network, with an index event between 1 January 2016 and 31 March 2024. The primary outcomes were safety, cardiovascular, thyroid and clinical biochemical profile outcomes occurring within 5 years following the index event. RESULTS: After propensity score matching, the study included 12,123 individuals in each group. GLP-1 RA treatment was associated with a significantly lower risk of all-cause mortality (hazard ratio 0.23; 95% confidence interval 0.15-0.34) and several cardiovascular complications, including ischaemic heart disease, heart failure, arrhythmias, hypertension, stroke and atrial fibrillation (all p < 0.05). GLP-1 RAs were also associated with a lower risk of acute kidney injury and allergic reactions. These protective effects were consistent across various subgroups and regions. CONCLUSIONS: In this large observational study, GLP-1 RAs showed long-term protective effects on cardiovascular health, renal outcomes and adverse events in individuals with obesity and without T2D. Our findings suggest that GLP-1 RAs may offer a comprehensive approach to managing obesity and its related comorbidities, potentially improving overall health and survival in this population.

8.
Rapid Commun Mass Spectrom ; 38(21): e9904, 2024 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-39223864

RESUMEN

RATIONALE: The development of analytical screening techniques for pesticides is crucial for preventing and mitigating environmental contamination. Mass spectrometry-based screening methods differ based on the complexity of the sample matrix and the diversity of the target compounds. One of the major challenges is balancing cost reduction in the extraction process with the optimization of analytical results. This protocol introduces a universal and efficient scheme for the qualitative and quantitative schemes for 45 pesticides within a single analytical run. METHODS: Water samples were extracted using an SPE column, with the pH adjusted to 7. Soil samples were processed using a modified QuEChERS method. The pretreatment for water samples emphasized selecting appropriate SPE columns and optimizing pH, while for soil samples, the focus was on choosing suitable extraction solvents and extraction salt packages. The enriched samples were then analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). The method was evaluated for accuracy, precision, detection limits, and matrix effects. RESULTS: The method enabled the simultaneous detection of 45 pesticides within a 15-minute analysis period. SPE recoveries ranged from 56.1% to 118.8%. Instrumental detection limits varied between 0.02 and 1 pg, while method detection limits extended from 0.05 to 18.47 ng/l in soil and water matrices. The approach was successfully applied to water and soil samples, with the pesticide concentration ranging from 0.1 ng/L to 38 µg/L. CONCLUSIONS: The protocol substantially enhances the characterization and quantification of 45 pesticides in environmental samples, achieving a remarkable reduction in detection limits by an order of magnitude compared to previous research. This method enables the simultaneous detection of pesticides in both water and soil matrices using a single system, addressing the challenges of using separate systems for different environmental media. Furthermore, this protocol provides a crucial theoretical foundation for managing and safeguarding against pesticide pollution.

9.
Rapid Commun Mass Spectrom ; 38(15): e9770, 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-38773864

RESUMEN

RATIONALE: Chlorothalonil (CHT), a broad-spectrum fungicide, has been employed widely to control foliar diseases, whereas with a major metabolite of polar 4-hydroxychlorothalonil (CHT-4-OH), only an acceptable nonpolar CHT residue is allowed by most countries. This study involves the method development for CHT residue in vegetables/fruits using liquid chromatography-tandem mass spectrometry (LC-MS/MS) with a novel modified discharge-adaptor (DA) interface. METHODS: CHT residue was analyzed using LC-MS/MS with DA interface (LC-DA-MS/MS), developed in our previous works. A DA was placed on the electrospray tip to switch the ionization modes. A modified quick, easy, cheap, effective, rugged, and safe (QuEChERS) method was applied to extract CHT residue of vegetables/fruits efficiently with less sample preparation time and analysis cost. RESULTS: CHT and CHT-4-OH spiked in four different vegetables/fruits were extracted using the modified QuEChERS method. After LC with isocratic elution, CHT and CHT-4-OH were separated within 3 min. Using LC-DA-MS/MS, the ion signals of CHT were improved two to three times, and the limit of quantification of 5 ng/g and linearity (r2 > 0.99) in the range of 5-200 ng/g were achieved using 10 g of vegetables/fruits. The precision and accuracy were within 15% each. The modified QuEChERS and LC-DA-MS/MS were applied to examine eight field-grown vegetables/fruits; 9.5 and 2588.9 ng/g of CHT were detected in two vegetables/fruits. CONCLUSION: LC-DA-MS/MS combined with modified QuEChERS was successfully applied to determine CHT residue <10 ng/g in vegetables/fruits and with satisfied validation results. The developed method could reduce both analysis cost and time, attributing to simplifications in modified QuEChERS, isocratic elution, and DA interface in LC-DA-MS/MS.


Asunto(s)
Frutas , Fungicidas Industriales , Nitrilos , Residuos de Plaguicidas , Espectrometría de Masas en Tándem , Verduras , Espectrometría de Masas en Tándem/métodos , Verduras/química , Nitrilos/análisis , Nitrilos/química , Cromatografía Liquida/métodos , Residuos de Plaguicidas/análisis , Frutas/química , Fungicidas Industriales/análisis , Límite de Detección , Reproducibilidad de los Resultados , Contaminación de Alimentos/análisis
10.
Nanomedicine ; 60: 102757, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38889854

RESUMEN

Surgical site infection (SSI) significantly affects patient recovery time, health outcomes and quality of life which is closely associated with the use of implants or mesh. Sutures are the most frequently used implants that play a significant role in the development of SSI. Studies have demonstrated that the administration of effective bactericidal and anti-inflammatory treatments can significantly decrease the incidence of SSI. To address this concern, a versatile suture was engineered by coating MoO3-X nanodots in this study. The incorporation of MoO3-X nanodots endowed the suture with desirable antibacterial and anti-inflammatory properties that were evaluated in in vitro and in vivo experiments. The results showed its remarkable ability to facilitate wound healing and prevent SSI through its dual action of combating bacterial infection and reducing inflammation. These findings highlight the promising potential of this multifunctional surgical suture as a versatile tool to promote better outcomes in surgical procedures.


Asunto(s)
Antibacterianos , Antiinflamatorios , Infección de la Herida Quirúrgica , Suturas , Antibacterianos/farmacología , Antibacterianos/química , Infección de la Herida Quirúrgica/prevención & control , Infección de la Herida Quirúrgica/tratamiento farmacológico , Animales , Antiinflamatorios/farmacología , Antiinflamatorios/química , Ratones , Humanos , Cicatrización de Heridas/efectos de los fármacos , Materiales Biocompatibles Revestidos/química , Materiales Biocompatibles Revestidos/farmacología , Nanopartículas/química , Óxidos/química , Óxidos/farmacología , Masculino , Staphylococcus aureus/efectos de los fármacos
11.
Microsurgery ; 44(1): e31046, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37038715

RESUMEN

BACKGROUND: The deep inferior epigastric artery perforator (DIEP) flap is widely used in breast reconstruction and the profunda artery perforator (PAP) flap as alternative. However, the difference between the two flaps in smaller breast reconstruction remains lacking, in particular, the donor site complications. In this case series, the results of small breast reconstruction (≤300 g) using PAP or small DIEP flaps were explored. METHODS: Unilateral immediate breast reconstruction using a free PAP flap or small DIEP flap (≤300 g) from 2011 to 2021 were reviewed retrospectively. Excluding patients with delayed reconstruction, 28 patients, including 17 PAP flaps and 11 small DIEP flaps were enrolled. Flap characteristics, breast and donor site complications, and revision surgeries were reviewed. BREAST-Q™ was used for quality-of-life assessment. RESULTS: Compared with a small DIEP flap, a PAP flap was narrow (7.5 ± 1.1 vs. 10.6 ± 0.7 cm, p < .001), short (20.0 ± 2.6 vs. 25.5 ± 1.8 cm, p < .001) and had a shorter pedicle (5.9 ± 1.6 vs. 9.1 ± 1.0 cm, p < .001). There were no significant differences in acute and late complications of wound healing and fat necrosis, but the average number of revisions in the PAP group was significantly higher (1.9 ± 1.3 vs. 0.8 ± 1.4, p = .041). Patient-reported outcomes using BREAST-Q™ displayed no significant difference between the two groups. CONCLUSION: The outcomes of PAP and small DIEP flaps at the breasts and donor sites are satisfactory, despite that a higher tendency of donor site complications in PAP flap and more aesthetic refinement required in the PAP group. The overall outcomes are acceptable.


Asunto(s)
Neoplasias de la Mama , Mamoplastia , Colgajo Perforante , Humanos , Femenino , Colgajo Perforante/irrigación sanguínea , Arterias Epigástricas/cirugía , Estudios Retrospectivos , Mamoplastia/métodos , Arterias , Neoplasias de la Mama/cirugía
12.
Int J Food Sci Nutr ; 75(6): 550-561, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38946436

RESUMEN

This study aims to investigate longitudinal associations between the dietary glycemic index (GI) and glycemic load (GL) and changes in glycemic and cardio-metabolic outcomes. A 28-month retrospective cohort study included 110 Vietnamese diabetic patients, collecting their dietary GI and GL values along with blood biochemical data from baseline 24-h dietary recall and medical records. Latent class growth modelling identified three distinct HbA1c trajectories during the follow-up period, with 51% of patients achieving good glycemic control. The adjusted linear mixed-effect model showed that 1 unit increase in logarithms in dietary GL was associated with a 0.14% increase in the log-HbA1c. Among poorly controlled diabetic patients, baseline GL values were positively correlated with increases in HbA1c; GI showed effects on changes in fasting plasma glucose and the triglyceride-glucose (TyG) index. No significant association was observed in patients with good glycemic control.


Asunto(s)
Biomarcadores , Glucemia , Dieta , Hemoglobina Glucada , Índice Glucémico , Carga Glucémica , Humanos , Masculino , Femenino , Glucemia/metabolismo , Glucemia/análisis , Hemoglobina Glucada/análisis , Biomarcadores/sangre , Anciano , Vietnam , Estudios Retrospectivos , Persona de Mediana Edad , Estudios Longitudinales , Diabetes Mellitus Tipo 2/sangre , Triglicéridos/sangre , Control Glucémico/métodos
13.
Int J Mol Sci ; 25(6)2024 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-38542204

RESUMEN

Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly worldwide. The prevalence and phenotypes of AMD differ among populations, including between people in Taiwan and other regions. We performed a genome-wide association study to identify genetic variants and to develop genetic models to predict the risk of AMD development and progression in the Taiwanese population. In total, 4039 patients with AMD and 16,488 non-AMD controls (aged ≥ 65 years) were included. We identified 31 AMD-associated variants (p < 5 × 10-8) on chromosome 10q26, surrounding PLEKHA1-ARMS2-HTRA1. Two genetic models were constructed using the clump and threshold method. Model 1 included the single nucleotide polymorphism rs11200630 and showed a 1.31-fold increase in the risk of AMD per risk allele (95% confidence interval (CI) = 1.20-1.43, p < 0.001). In model 2, 1412 single-nucleotide polymorphisms were selected to construct a polygenic risk score (PRS). Individuals with the top 5% PRS had a 1.40-fold higher AMD risk compared with that of individuals with a PRS in the bottom quartile (95% CI = 1.04-1.89, p = 0.025). Moreover, the PRS in the upper quartile was related to a decreased age at AMD diagnosis by 0.62 years (95% CI = -1.15, -0.09, p = 0.023). Both genetic models provide useful predictive power for populations at high risk of AMD, affording a basis for identifying patients requiring close follow-up and early intervention.


Asunto(s)
Degeneración Macular , Proteínas , Anciano , Humanos , Proteínas/genética , Estudio de Asociación del Genoma Completo , Degeneración Macular/diagnóstico , Degeneración Macular/epidemiología , Degeneración Macular/genética , Serina Peptidasa A1 que Requiere Temperaturas Altas/genética , Polimorfismo de Nucleótido Simple , Diagnóstico Precoz , Predisposición Genética a la Enfermedad , Factores de Riesgo , Genotipo
14.
Molecules ; 29(10)2024 May 19.
Artículo en Inglés | MEDLINE | ID: mdl-38792250

RESUMEN

Monitoring hydrogen sulfide (H2S) in living organisms is very important because H2S acts as a regulator in many physiological and pathological processes. Upregulation of endogenous H2S concentration has been shown to be closely related to the occurrence and development of tumors, atherosclerosis, neurodegenerative diseases and diabetes. Herin, a novel fluorescent probe HND with aggregation-induced emission was designed. Impressively, HND exhibited a high selectivity, fast response (1 min) and low detection limit (0.61 µM) for H2S in PBS buffer (10 mM, pH = 7.42). Moreover, the reaction mechanism between HND and H2S was conducted by Job's plot, HR-MS, and DFT. In particular, HND was successfully employed to detect H2S in HeLa cells.


Asunto(s)
Colorantes Fluorescentes , Sulfuro de Hidrógeno , Sulfuro de Hidrógeno/análisis , Humanos , Colorantes Fluorescentes/química , Células HeLa , Imagen Óptica/métodos , Espectrometría de Fluorescencia/métodos , Límite de Detección
15.
BMC Nurs ; 23(1): 329, 2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38755582

RESUMEN

BACKGROUND: Meeting people's needs is positively correlated with their recovery. However, recovery services rarely include nurse-led programs tailored to the needs of these people. This study aimed to evaluate the effectiveness of a new needs-tailored recovery program by using a cluster-randomized controlled trial design. METHODS: We conducted a parallel randomized controlled trial in two community psychiatric departments, employing nurse-level clustering for intervention delivery and selecting participants through convenience sampling. The participants were people diagnosed with schizophrenia that were receiving homecare services. The experimental group (n = 82) received needs-tailored recovery program for six months. The control group (n = 82) received traditional homecare. Data were collected at baseline, post-intervention, and the three-month follow-up (the study ran from February to December 2021). The outcomes were recovery, needs, hope, empowerment, psychotic symptoms, and medication adherence. We used repeated measures ANOVA tests to examine the effect of the group × time interaction. RESULTS: The participants in the experimental group demonstrated statistically significant improvements in recovery, hope, and medication adherence compared to the control group, both immediately post-intervention and at the three-month follow-up. Moreover, they exhibited statistically significant reductions in needs compared to the control group at the three-month follow-up (p < .05). While the interaction effect for psychotic symptoms was not significant, the time effect was significant (p < .05). No significant interaction or time effect was observed for empowerment. CONCLUSION: The findings increase our understanding of recovery-oriented care that prioritizes therapeutic alliance, integrated needs assessment, individual goals, hope, and empowerment. TRIAL REGISTRATION: The Clinicaltrials.gov identifier NCT05304780 retrospectively registered on 03/31/2022.

16.
J Obstet Gynaecol ; 44(1): 2320844, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38466187

RESUMEN

BACKGROUND: The Menstrual Distress Questionnaire (MDQ) is a commonly used questionnaire that assesses various symptoms and distress associated with the menstrual cycle in women. However, the questionnaire has not been completely translated into Chinese with rigorous reliability and validity testing. METHODS: This study translated the Menstrual Distress Questionnaire Form Cycle (MDQC) from English into Chinese: MDQCC in two stages. First, it was translated forward and backward using Jones' model; second, to test the validity and reliability, 210 Chinese-speaking women were recruited through online announcements and posters posted between June 2019 and May 2020. Expert validity, construct validity, convergent validity, and factorial validity were determined using content validity index (CVI), intraclass correlation coefficient (ICC), composite reliability (CR), and exploratory factor analysis, respectively. For concurrent criterion validity, MDQCC score was compared with three existing pain scales. Reliability was evaluated using internal consistency across items and two-week test-retest reliability over time. RESULTS: The CVI for content validity was .92. Item-CVI for expert validities among the 46 items ranged from .50 - 1; scale-CVI for the eight subscales, from .87 - 1; ICC, from .650 - .897; and CRs, from .303 - .881. Pearson correlation coefficients between MDQCC and short-form McGill pain questionnaire, present pain intensity, and visual analog scale scores were .640, .519, and .575, respectively. Cronbach's α for internal consistency was satisfactory (.932). ICC for test-retest reliability was .852 for the entire MDQCC. CONCLUSION: MDQCC was valid and reliable for Mandarin Chinese-speaking women. It can be used to evaluate female psychiatric symptoms related to the menstrual cycle in future work.


The Menstrual Distress Questionnaire has been used to evaluate menstrual distress, including dysmenorrhoea and premenstrual syndrome. This questionnaire has been translated into Persian, Korean, Japanese, and Cantonese, rendering it to be used more and more widely all over the world. The study translated all 46 items of the Menstrual Distress Questionnaire from English to Mandarin Chinese using a two-stage strategy. The Chinese version of this questionnaire developed by the present study was found to be a valid and reliable tool in Chinese Mandarin-speaking female populations. It could be used to evaluate women's physical and psychiatric symptoms related to the menstrual cycle in future works.


Asunto(s)
Pueblo Asiatico , Ciclo Menstrual , Femenino , Humanos , Correlación de Datos , Análisis Factorial , Reproducibilidad de los Resultados
17.
Oncologist ; 28(6): e436-e447, 2023 06 02.
Artículo en Inglés | MEDLINE | ID: mdl-36971468

RESUMEN

OBJECTIVE: This study investigated the efficacy of acupuncture in preventing chemotherapy-induced peripheral neuropathy (CIPN) in patients with colorectal cancer (CRC). METHODS: This single center, randomized, controlled, single-blind clinical trial randomly assigned patients with stage 3 CRC attending outpatient clinics in China Medical University Hospital to either verum or sham acupuncture treatment concurrently with chemotherapy. Primary outcomes were nerve conduction velocity (NCV) and touch thresholds of limb terminals. Secondary outcomes were total and subdomain scores on the Functional Assessment of Cancer Therapy-General (FACT-G), and scores on the FACT/GOG-Ntx subscale and the Brief Pain Inventory-Short Form (BPI-SF), at baseline, weeks 12, 36, and follow-up (week 48). RESULTS: Thirty-two patients met the inclusion criteria and received verum acupuncture (N = 16) or sham acupuncture (N = 16). Under the -intent-to-treat principle, 26 participants were analyzed. Significant changes from baseline for questionnaire scores and sensory NCV were observed in both study groups. Sham acupuncture was associated with significant reductions from baseline in motor NCV and sensory touch thresholds; no such changes were observed with verum acupuncture. No serious adverse events were reported. CONCLUSION: Prophylactic acupuncture may exert neuroprotective effects on mechanical or tactile touch thresholds during chemotherapy regimens in patients with CRC, with evidence of this protectiveness persisting at 6 months' follow-up. The lack of change in motor NCV values with verum acupuncture indicates neuroprotective effects. Sensory NCV values and patient-reported outcomes did not differ significantly between the study groups.


Asunto(s)
Terapia por Acupuntura , Antineoplásicos , Fármacos Neuroprotectores , Enfermedades del Sistema Nervioso Periférico , Humanos , Método Simple Ciego , Fármacos Neuroprotectores/efectos adversos , Terapia por Acupuntura/efectos adversos , Enfermedades del Sistema Nervioso Periférico/inducido químicamente , Enfermedades del Sistema Nervioso Periférico/prevención & control , Antineoplásicos/efectos adversos
18.
Brief Bioinform ; 22(3)2021 05 20.
Artículo en Inglés | MEDLINE | ID: mdl-32496540

RESUMEN

Scoring functions (SFs) based on complex machine learning (ML) algorithms have gradually emerged as a promising alternative to overcome the weaknesses of classical SFs. However, extensive efforts have been devoted to the development of SFs based on new protein-ligand interaction representations and advanced alternative ML algorithms instead of the energy components obtained by the decomposition of existing SFs. Here, we propose a new method named energy auxiliary terms learning (EATL), in which the scoring components are extracted and used as the input for the development of three levels of ML SFs including EATL SFs, docking-EATL SFs and comprehensive SFs with ascending VS performance. The EATL approach not only outperforms classical SFs for the absolute performance (ROC) and initial enrichment (BEDROC) but also yields comparable performance compared with other advanced ML-based methods on the diverse subset of Directory of Useful Decoys: Enhanced (DUD-E). The test on the relatively unbiased actives as decoys (AD) dataset also proved the effectiveness of EATL. Furthermore, the idea of learning from SF components to yield improved screening power can also be extended to other docking programs and SFs available.


Asunto(s)
Descubrimiento de Drogas , Aprendizaje Automático , Simulación del Acoplamiento Molecular , Proteínas/química , Unión Proteica
19.
Artículo en Inglés | MEDLINE | ID: mdl-37167094

RESUMEN

Two moderately halotolerant bacterium strains, designated PJ-16T and PJ-38, were isolated from a tidal flat of the red beach in Panjin City, Liaoning Province, PR China. Cells were found to be Gram-stain-negative, aerobic, motile, rod-shaped with a single polar flagellum. Optimum growth of strain PJ-16T occurred at 30 °C, pH 7.0 and 0.2-8.0  % (w/v) NaCl, and strain PJ-38 at 30 °C, pH 6.0-7.0 and 0.2-8.0  % (w/v) NaCl. Phylogenetic analysis based on 16S rRNA gene sequences showed that strain PJ-16T was most closely related to Marinobacter denitrificans KCTC 62941T (99.2 % 16S rRNA gene sequence similarity), Marinobacter algicola DSM 16394T (98.6 %), Marinobacter salarius JCM 19399T (98.4 %) and Marinobacter confluentis KCTC 42705T (98.2 %), and strain PJ-38 was most closely related to M. denitrificans KCTC 62941T (99.1 %), M. algicola DSM 16394T (98.6 %), M. salarius JCM 19399T (98.4 %) and M. confluentis KCTC 42705T (98.1 %). The G+C content of the genomic DNA of strain PJ-16T based on its draft genomic sequence was 57.4 mol%. The major cellular fatty acids of strain PJ-16T were C16 : 0, C16 : 1 ω7c/C16 : 1 ω6c and C18 : 1 ω9c. The major respiratory quinone of PJ-16T was ubiquinone-9 and the major polar lipids were diphosphatidylglycerol, phosphatidylethanolamine and phosphatidylglycerol. The results of the phenotypic, phylogenetic and genomic analyses revealed that strains PJ-16T and PJ-38 represent a novel species of the genus Marinobacter, and the name Marinobacter panjinensis sp. nov. is proposed. The type strain is PJ-16T (= CGMCC 1.13694T= KCTC 72023T).


Asunto(s)
Ácidos Grasos , Marinobacter , Ácidos Grasos/química , Fosfolípidos/química , Agua de Mar/microbiología , Filogenia , ARN Ribosómico 16S/genética , Cloruro de Sodio , ADN Bacteriano/genética , Análisis de Secuencia de ADN , Composición de Base , Técnicas de Tipificación Bacteriana
20.
Diabetes Obes Metab ; 25(10): 2928-2936, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37455666

RESUMEN

AIMS: To analyse the genome-wide association study (GWAS) data of patients with type 1 diabetes mellitus (T1D) in order to develop a risk score for the genetic effects on T1D risk and age at diagnosis in the Taiwanese population. MATERIALS AND METHODS: We selected 610 patients with T1D and 2511 healthy individuals from an electronic medical record database of more than 300 000 individuals with genetic information, analysed their GWAS data, and developed a polygenic risk score (PRS). RESULTS: The PRS, based on 149 selected single-nucleotide polymorphisms, could effectively predict T1D risk. A PRS increase was associated with increased T1D risk (odds ratio [OR] 2.09, 95% confidence interval [CI] 1.72-2.55). Moreover, a 1-unit increase in standardized T1D PRS decreased the age at diagnosis by 0.74 years. Combined PRS and human leukocyte antigen (HLA) DQA1*03:02-DQA1*05:01 genotypes could accurately predict T1D risk. In multivariable models, HLA variants and PRS were independent risk factors for T1D risk (OR 3.76 [95% CI 1.54-9.16] and 1.71 [95% CI 1.37-2.13] for HLA DQA1*03:02-DQA1*05:01 and PRS, respectively). In a limited study population of those aged ≤18 years, PRS remained significantly associated with T1D risk. The association between T1D PRS and age at diagnosis was more obvious among males and patients aged ≤18 years. CONCLUSIONS: Polygenic risk score and HLA variations enable personalized risk estimates, enhance newborn screening efficiency for ketoacidosis prevention, and addresses the gap in data on T1D prediction in isolated Asian populations.


Asunto(s)
Diabetes Mellitus Tipo 1 , Masculino , Recién Nacido , Humanos , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/genética , Estudio de Asociación del Genoma Completo , Predisposición Genética a la Enfermedad , Factores de Riesgo , Medición de Riesgo
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