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1.
Cancer Diagn Progn ; 4(5): 579-585, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39238625

RESUMEN

Background/Aim: The role of alcohol consumption and aldehyde dehydrogenase 2 (ALDH2) genotype in hepatocellular carcinoma (HCC) development remains uncertain. Materials and Methods: We conducted genotyping of the ALDH2 rs671 single nucleotide polymorphism in 298 patients with HCC and 889 non-cancerous healthy controls. We assessed associations stratified by sex and alcohol consumption status. Results: Distribution of ALDH2 rs671 variant genotypes differed significantly between HCC patients and controls (ptrend=0.0311). Logistic regression analyses indicated that compared to the wild-type GG genotype, the heterozygous variant AG genotype and homozygous variant AA genotype conferred 1.22- and 1.77-fold increases in HCC risk (p=0.1794 and 0.0150, respectively). Allelic frequency analysis showed that the A allele was associated with a 1.29-fold increased HCC risk (p=0.0123). Additionally, AA genotype carriers had significantly higher HCC risk than GG genotype carriers among males (p=0.0145) and non-alcohol drinkers (p<0.001). Conclusion: HCC risk is influenced by ALDH2 genotype, with effects modified by sex and alcohol consumption. Particularly, individuals with the ALDH2 rs671 AA genotype should avoid alcohol consumption, especially males.

2.
Front Vet Sci ; 11: 1407634, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39234171

RESUMEN

Introduction: Nocardia farcinica is an opportunistic bacterium that causes bovine mastitis and pulmonary, cutaneous, and central nervous system infections in humans. Bovine abortion caused by N. farcinica has been sporadically reported. The purpose of this study was to analyze the pathological findings of bovine abortions caused by N. farcinica in the Republic of Korea and determine the antimicrobial resistance and genotypical characteristics of N. farcinica isolates. Case presentation: Three cases of bovine abortions were submitted to the Animal and Plant Quarantine Agency for differential diagnosis. Grossly, one fetus showed severe lung consolidation following palpation of the entire lobes. Histologically, necrotizing granulomatous interstitial pneumonia was observed in all fetuses; a fetus with a gross lesion demonstrated necrotizing lymphadenitis in the mesenteric lymph nodes and necrotizing dermatitis in the ear. N. farcinica isolates were isolated from the abomasal contents and lungs of all fetuses. Finally, two cases were diagnosed as abortions due to N. farcinica, and one was diagnosed as an N. farcinica abortion coinfected with bovine viral diarrhea virus. According to the multilocus sequence analysis, all isolates were identified as N. farcinica and were determined to be genetically related to isolates from humans. Two N. farcinica isolates were resistant to trimethoprim-sulfamethoxazole, which is recommended as the first treatment for human nocardial infections. Conclusion: This is the first pathological report of bovine abortion caused by N. farcinica in the Republic of Korea. Further studies are needed to phenotypically and genotypically characterize N. farcinica isolates with various sources and continuously monitor antimicrobial resistance patterns.

3.
In Vivo ; 38(5): 2197-2204, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39187312

RESUMEN

BACKGROUND/AIM: In current literature, there is a notable lack of studies investigating the role of radiation-sensitive protein 51 (RAD-51) in pterygium diagnosis. Nevertheless, reports indicate elevated expression levels of RAD-51 among recurrent pterygium cases compared to those with primary pterygium. However, the genomic involvement of RAD-51 has yet to be explored in any population. This study aimed to assess the contribution of RAD-51 genotypes to pterygium risk in a representative Taiwanese population. MATERIALS AND METHODS: RAD-51 rs1801320 genotyping was successfully conducted in a Taiwanese cohort comprising 140 pterygium cases and 280 non-pterygium controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology. RESULTS: The distribution of RAD-51 rs1801320 genotypes (GG, CG, and CC) in the pterygium group (70.0%, 25.7%, and 4.3%, respectively) did not significantly differ from that in the non-pterygium group (73.6%, 23.6%, and 2.8% for GG, CG, and CC genotypes, respectively; p for trend=0.6337). Carriers of the variant CG and CC RAD-51 rs1801320 genotypes exhibited 1.15- and 1.58-fold increased pterygium risk, respectively (95%CI=0.72-1.84 and 0.53-4.67, p=0.6552 and p=0.5914, respectively). In the dominant model, there appeared to be a slight association between variant genotypes CG and CC and pterygium risk (OR=1.19, 95%CI=0.76-1.87, p=0.0223). Allelic analysis revealed that the RAD-51 rs1801320 variant C allele was not significantly linked to pterygium risk (17.1% versus 14.6%, OR=1.20, 95%CI=0.82-1.78, p=0.3991). CONCLUSION: Variant genotypes at RAD-51 rs1801320 were firstly identified to associate with susceptibility to pterygium among Taiwanese individuals. Nonetheless, these findings warrant validation in larger and more diverse populations.


Asunto(s)
Predisposición Genética a la Enfermedad , Genotipo , Polimorfismo de Nucleótido Simple , Pterigion , Humanos , Pterigion/genética , Pterigion/etiología , Masculino , Femenino , Taiwán/epidemiología , Persona de Mediana Edad , Anciano , Recombinasa Rad51/genética , Alelos , Factores de Riesgo , Estudios de Casos y Controles , Frecuencia de los Genes , Adulto
4.
Cancer Genomics Proteomics ; 21(5): 502-510, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39191502

RESUMEN

BACKGROUND/AIM: Matrix metalloproteinase-2 (MMP-2) has been implicated in the pathogenesis of breast cancer (BC). However, there is limited research on the role of MMP-2 genotypes in BC risk. This study aimed to investigate the associations between two MMP-2 promoter polymorphisms, rs243865 and rs2285053, and BC risk. MATERIALS AND METHODS: MMP-2 genotypes were analyzed using PCR-based RFLP methodology in a cohort comprising 1,232 BC cases and 1,232 controls. RESULTS: Genotypic frequencies of MMP-2 rs243865 and rs2285053 in controls were consistent with Hardy-Weinberg equilibrium (p=0.3702 and 0.2036, respectively). There were no significant differences in the distribution of rs243865 and rs2285053 genotypes between BC cases and controls (p for trend=0.1602 and 0.2170, respectively). Variant genotypes at rs243865 and rs2285053 appeared to confer a protective effect, although not statistically significant (all p>0.05). Similarly, the variant T allele at rs243865 and rs2285053 showed a non-significant trend towards decreased BC risk (OR=0.84 and 0.89, 95%CI=0.69-1.02 and 0.78-1.02, p=0.0811 and 0.1043, respectively). There was no interaction observed between MMP-2 rs243865 or rs2285053 genotypes and age. Stratified analysis did not reveal significant associations between MMP-2 rs243865 or rs2285053 genotypes and triple-negative breast cancer (TNBC) (p=0.6458 and 0.8745, respectively). Among both TNBC and non-TNBC cases, none of the variant genotypes at rs243865 or rs2285053 showed significant associations with TNBC (all p>0.05). CONCLUSION: MMP-2 rs243865 and rs2285053 genotypes appear to have a minimal impact on individual susceptibility to BC or TNBC.


Asunto(s)
Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Genotipo , Metaloproteinasa 2 de la Matriz , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Humanos , Metaloproteinasa 2 de la Matriz/genética , Femenino , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Persona de Mediana Edad , Adulto , Estudios de Casos y Controles , Factores de Riesgo
5.
Anticancer Res ; 44(9): 3813-3820, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39197904

RESUMEN

BACKGROUND/AIM: Upregulation of matrix metallo-proteinase-8 (MMP-8) serves as a protein-based indicator for predicting nasopharyngeal carcinoma (NPC) metastasis. Nevertheless, the role of MMP-8 genotypes in NPC has never been investigated. This study aimed to explore the involvement of MMP-8 genotypes in NPC development. MATERIALS AND METHODS: We employed the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique to analyze MMP-8 genotypes, specifically C-799T (rs11225395), Val436Ala (rs34009635), and Lys460Thr (rs35866072), in a Taiwanese cohort comprising 208 NPC cases and 416 healthy controls. RESULTS: Individuals with either heterozygous or homozygous variant genotypes of MMP-8 rs11225395 showed no significant change in NPC risk compared to those with the wild-type genotype [odds ratio (OR)=0.97 and 0.79, 95% confidence intervals (95%CI)=0.68-1.38 and 0.46-1.36; p=0.9304 and 0.4736, respectively]. Similarly, there was no significant association between the heterozygous genotypes of MMP-8 rs34009635 and NPC risk (OR=0.66, 95%CI=0.24-1.84; p=0.5738). For MMP-8 rs35866072, all individuals in the study were of the TT genotype. Furthermore, the presence of variant alleles at MMP-8 rs11225395 or rs34009635 did not result in altered NPC risk (OR=0.91 and 0.66, 95%CI=0.71-1.16 and 0.24-1.84, p=0.4876 and 0.5769, respectively). Additionally, no significant association was observed between MMP-8 rs11225395 variant genotypes and NPC risk among individuals regardless of smoking, alcohol consumption, or betel quid chewing habits (all p>0.05). CONCLUSION: There was no association between the MMP-8 genotypes rs11225395, rs34009635, or rs35866072 and NPC risk among Taiwanese individuals. Moreover, no combined effects of MMP-8 genotype with smoking, alcohol consumption, or betel quid chewing habits on NPC risk were observed.


Asunto(s)
Predisposición Genética a la Enfermedad , Metaloproteinasa 8 de la Matriz , Carcinoma Nasofaríngeo , Neoplasias Nasofaríngeas , Polimorfismo de Nucleótido Simple , Humanos , Metaloproteinasa 8 de la Matriz/genética , Masculino , Femenino , Carcinoma Nasofaríngeo/genética , Persona de Mediana Edad , Neoplasias Nasofaríngeas/genética , Neoplasias Nasofaríngeas/patología , Estudios de Casos y Controles , Genotipo , Adulto , Factores de Riesgo , Taiwán/epidemiología
6.
Life (Basel) ; 14(8)2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-39202777

RESUMEN

Prostate cancer (PCa) is a multifactorial disease influenced by genetic, environmental, and immunological factors. Genetic polymorphisms in the interleukin-10 (IL-10) gene have been implicated in PCa susceptibility, development, and progression. This study aims to assess the contributions of three IL-10 promoter single nucleotide polymorphisms (SNPs), A-1082G (rs1800896), T-819C (rs3021097), and A-592C (rs1800872), to the risk of PCa in Taiwan. The three IL-10 genotypes were determined using PCR-RFLP methodology and were evaluated for their contributions to PCa risk among 218 PCa patients and 436 non-PCa controls. None of the three IL-10 SNPs were significantly associated with the risks of PCa (p all > 0.05) in the overall analyses. However, the GG at rs1800896 combined with smoking behavior was found to significantly increase the risk of PCa by 3.90-fold (95% confidence interval [95% CI] = 1.28-11.89, p = 0.0231). In addition, the rs1800896 AG and GGs were found to be correlated with the late stages of PCa (odds ratio [OR] = 1.90 and 6.42, 95% CI = 1.05-3.45 and 2.30-17.89, p = 0.0452 and 0.0003, respectively). The IL-10 promoter SNP, A-1082G (rs1800896), might be a risk factor for PCa development among smokers and those at late stages of the disease. These findings should be validated in larger and more diverse populations.

7.
Mar Pollut Bull ; 205: 116650, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38981195

RESUMEN

This study examines diatom assemblages in the Matsu Archipelago, an area influenced by Minjiang River runoff. It focuses on harmful algal blooms (HABs) that occurred between August 2021 and July 2022. Utilizing 18S rRNA metabarcoding and microscopic analysis, we observed a significant diatom bloom during early summer runoff, peaking at 5 × 105 cells L-1. The research reveals dynamic community changes during the runoff season, with dominant genera including Pseudo-nitzschia, Chaetoceros, and Skeletonema. Skeletonema cell density correlated with NO3 levels, Chaetoceros had a slight PO4 affinity, and Pseudo-nitzschia showed a negative correlation with Skeletonema. Pseudo-nitzschia, which prefers high light and pH conditions, had notably high concentrations in the flood season and in the autumn. In both, it was dominated by potential toxin-producing species - P. multistriata and P. pungens during the flooding, and P. cuspidate in the autumn. These findings highlight the intricate relationship between diatom dynamics and environmental factors, providing essential insights for managing HABs, especially Pseudo-nitzschia species, amidst environmental changes.


Asunto(s)
Diatomeas , Monitoreo del Ambiente , Inundaciones , Floraciones de Algas Nocivas , Ríos , China , ARN Ribosómico 18S , Estaciones del Año
8.
Chronobiol Int ; 41(7): 1021-1033, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38860554

RESUMEN

Breakfast skipping and late-evening snack are prevalent in young adults. This randomized controlled intervention aimed to evaluate the influence of meal habit recommendations on young adults' body composition and blood pressure. Nonpregnant adults (≥20 y old) who were eligible for bioelectrical impedance analysis examination (neither pacemaker installed nor medications that would affect body composition, like diuretics or corticosteroids) were enrolled after they provided informed consent (n = 125). Subjects were randomized into three groups, every group receiving one of the following recommendations: (a) daily breakfast consumption (within 2 h after waking up), (b) avoidance of late-evening snacks (after 21:00h or within 4 h before sleep, with the exception of water), and (c) both recommendations. Body composition and blood pressure were measured before randomization at baseline and at the follow-up 1 y later. Intent-to-treat analysis showed that the recommendation of daily breakfast may contribute to a lower increment of diastolic blood pressure by 3.23 mmHg (95% CI: 0.17-6.28). Receiving the breakfast recommendation was associated with more reduction of total body fat percent by 2.99% (95% CI: 0.23-5.74) and percent trunk fat by 3.63% (95% CI: 0.40-6.86) in inactive youths. Recommendation of avoiding late-evening snack did not significantly affect the outcome measures (ClinicalTrials.gov Identifier: NCT03828812).


Asunto(s)
Presión Sanguínea , Composición Corporal , Desayuno , Conducta Alimentaria , Bocadillos , Humanos , Masculino , Femenino , Presión Sanguínea/fisiología , Proyectos Piloto , Adulto , Adulto Joven , Conducta Alimentaria/fisiología , Ritmo Circadiano/fisiología , Factores de Tiempo
9.
In Vivo ; 38(4): 1601-1608, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38936889

RESUMEN

BACKGROUND/AIM: Hallux valgus (HV) is the most prevalent deformity affecting the forefoot; however, its genetic etiology remains unclear. In the literature, vitamin D receptor (VDR) genotypes have been reported to be associated with the risk of skeletal malformations accompanied by inflammation. This study aimed to examine the hypothesis that VDR genotypes are associated with the risk of HV. MATERIALS AND METHODS: The VDR rs731236, rs1544410, rs2228570 and rs7975232 genotypes of 150 HV patients and 600 non-HV subjects were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology and examined regarding their associations with HV risk. RESULTS: The results showed that none of the genetic frequency distributions of VDR rs731236, rs1544410, rs2228570, or rs7975232 were significant between the HV cases and non-HV controls (p for trend=0.4055, 0.2170, 0.7220, 0.5509, respectively). Additionally, allelic frequency analysis showed that none of the allelic frequencies of VDR rs731236, rs1544410, rs2228570, or rs7975232 were significantly distributed (p=0.2285, 0.1572, 0.9278, and 0.5547, respectively). Furthermore, stratified analysis showed that no correlation was observed between VDR rs731236 and different age groups (either younger or older than 51) or sex (p=0.3953 and p=0.9576). Moreover, no correlation was found between VDR rs731236 genotype and the risk of HV in individuals within subgroups of height, weight, or body mass index (BMI) (p=0.8317, 0.5346, and p=0.8783, respectively). CONCLUSION: VDR rs731236, rs1544410, rs2228570, and rs7975232 may not serve as indicators for a higher risk of HV.


Asunto(s)
Alelos , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Hallux Valgus , Polimorfismo de Nucleótido Simple , Receptores de Calcitriol , Humanos , Receptores de Calcitriol/genética , Femenino , Masculino , Taiwán/epidemiología , Hallux Valgus/genética , Persona de Mediana Edad , Adulto , Anciano , Estudios de Casos y Controles , Estudios de Asociación Genética , Factores de Riesgo
10.
Anticancer Res ; 44(7): 3051-3058, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38925847

RESUMEN

BACKGROUND/AIM: The activity and expression of matrix metalloproteinase-7 (MMP7) have been found to be upregulated in the late stages of endometriosis. However, the contribution of MMP7 genotype to endometriosis has seldom been examined. This study aimed to investigate the role of MMP7 promoter A-181G (rs11568818) and C-153T (rs11568819) genotypes in determining personal susceptibility to endometriosis in a Taiwanese cohort. PATIENTS AND METHODS: In this hospital-based case-control study, MMP7 genotypes were analyzed in 153 endometriosis and 636 individuals without endometriosis using typical polymerase chain reaction-restriction fragment length polymorphism methodology. RESULTS: The statistical analysis revealed that MMP7 rs11568818 genotypes were differentially distributed between the endometriosis and control groups (p for trend=0.0048). Specifically, the MMP7 rs11568818 homozygous variant GG was associated with endometriosis risk compared to the wild-type AA genotype (OR=4.59, 95% CI=1.46-14.48, p=0.0136). However, the MMP7 rs11568818 heterozygous variant AG was not associated with endometriosis risk (OR=1.57, 95% CI=0.97-2.53, p=0.0854). The frequency of than variant allele G of MMP7 rs11568818 was 12.7% in the endometriosis group, significantly higher than the 7.2% observed in the control group (OR=1.90, 95% CI=1.27-2.82, p=0.0021). CONCLUSION: MMP7 rs11568818 GG genotype was found to be a novel marker for endometriosis risk in Taiwanese.


Asunto(s)
Endometriosis , Predisposición Genética a la Enfermedad , Genotipo , Metaloproteinasa 7 de la Matriz , Polimorfismo de Nucleótido Simple , Humanos , Endometriosis/genética , Femenino , Metaloproteinasa 7 de la Matriz/genética , Taiwán/epidemiología , Adulto , Estudios de Casos y Controles , Factores de Riesgo , Regiones Promotoras Genéticas/genética , Frecuencia de los Genes
11.
In Vivo ; 38(4): 1731-1739, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38936920

RESUMEN

BACKGROUND/AIM: The up-regulation of matrix metalloproteinase-9 (MMP-9) expression is a characteristic feature observed across various malignancies, including nasopharyngeal carcinoma (NPC). Nevertheless, the influence of MMP-9 genotype in the context of NPC remains underexplored. This study examined the implications of MMP-9 promoter rs3918242 genotypes on the susceptibility to NPC in Taiwan. MATERIALS AND METHODS: In a cohort comprising 208 NPC cases and 416 healthy controls, genotyping of MMP-9 rs3918242 was conducted utilizing polymerase chain reaction-restriction fragment length polymorphism methodology. RESULTS: Individuals harbouring the variant CT or TT genotype of MMP-9 rs3918242 did not demonstrate a discernible alteration in NPC risk when compared to wild-type CC carriers [odds ratio (OR)=0.83 and 0.79, with 95% confidence intervals (95%CI)=0.56-1.24 and 0.27-2.29; p=0.4205 and 0.8675, respectively]. Moreover, the presence of the variant T allele did not confer a modified risk of NPC (OR=0.84, 95%CI=0.60-1.19, p=0.3761). Intriguingly, a protective effect associated with the MMP-9 rs3918242 CT genotype against NPC risk was discerned among individuals abstaining from betel quid chewing behaviour (OR=0.51, 95%CI=0.30-0.87, p=0.0166). Notably, no significant association was established between the MMP-9 rs3918242 CT or TT genotype and NPC risk among individuals with or without smoking or alcohol consumption habits. CONCLUSION: Presence of the variant CT or TT genotype at MMP-9 rs3918242 did not appear to substantially contribute to an elevated risk of NPC. Notably, a protective effect against NPC risk was observed in individuals carrying the CT genotype, particularly in those abstaining from betel quid chewing.


Asunto(s)
Metaloproteinasa 9 de la Matriz , Carcinoma Nasofaríngeo , Neoplasias Nasofaríngeas , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Alelos , Estudios de Casos y Controles , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Metaloproteinasa 9 de la Matriz/genética , Carcinoma Nasofaríngeo/genética , Carcinoma Nasofaríngeo/epidemiología , Neoplasias Nasofaríngeas/genética , Neoplasias Nasofaríngeas/epidemiología , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Factores de Riesgo , Taiwán/epidemiología
12.
Anticancer Res ; 44(5): 1931-1938, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38677743

RESUMEN

BACKGROUND/AIM: Renal cell carcinoma (RCC) presents a formidable clinical challenge due to its aggressive behavior and limited therapeutic options. Matrix metalloproteinase-8 (MMP-8) has recently emerged as a potential biomarker and therapeutic target for various cancers. However, the genetic involvement of MMP-8 in RCC has remained largely obscure. This study aimed to elucidate the role of MMP-8 genotypes in RCC susceptibility. MATERIALS AND METHODS: The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was employed to scrutinize the genotypes of MMP-8 C-799T (rs11225395), Val436Ala (rs34009635), and Lys460Thr (rs35866072) among 118 RCC patients and 590 controls. Furthermore, potential associations between MMP-8 genotypes and age, sex, smoking, alcohol consumption, hypertension, diabetes, and family history status in relation to RCC risk were assessed. RESULTS: No significant disparities in the distribution of MMP-8 rs11225395, rs34009635, and rs35866072 genotypes were observed between the RCC case and control cohorts (p>0.05). Individuals with CT and TT genotypes at MMP-8 rs11225395 exhibited 0.86- and 0.80-fold RCC risks, respectively (OR=0.57-1.31 and 0.42-1.55, p=0.5585 and 0.6228, respectively). Intriguingly, hypertensive individuals carrying the MMP-8 rs11225395 CT or TT genotype demonstrated an elevated risk for RCC compared to those with wild-type CC genotype (p=0.0440). No interactions of MMP-8 genotypes with age, sex, smoking, alcohol consumption, or diabetes status were evident (all p>0.05). No significant association was discerned for MMP-8 rs34009635 or rs35866072 genotypes. CONCLUSION: MMP-8 genotypes appear to have a modest influence on individual susceptibility to RCC. Hypertensive patients with the CT or TT MMP-8 rs11225395 genotype may have an elevated risk of RCC.


Asunto(s)
Carcinoma de Células Renales , Predisposición Genética a la Enfermedad , Genotipo , Neoplasias Renales , Metaloproteinasa 8 de la Matriz , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Carcinoma de Células Renales/genética , Carcinoma de Células Renales/epidemiología , Carcinoma de Células Renales/patología , Estudios de Casos y Controles , Neoplasias Renales/genética , Neoplasias Renales/epidemiología , Metaloproteinasa 8 de la Matriz/genética , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Taiwán/epidemiología
13.
iScience ; 27(4): 109381, 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38500822

RESUMEN

Sleep disturbance led by BMAL1-deficiency has been recognized both in rodent and non-human primate models. Yet it remained unclear how their diurnal brain oscillations were affected upon BMAL1 ablation and what caused the discrepancy in the quantity of sleep between the two species. Here, we investigated diurnal electroencephalographs of BMAL1-deficient mice and cynomolgus monkeys at young adult age and uncovered a shared defect of dysregulated high-frequency oscillations by Kullback-Leibler divergence analysis. We found beta and gamma oscillations were significantly disturbed in a day versus night manner in BMAL1-deficient monkeys, while in mice the beta band difference was less evident. Notably, the dysregulation of beta oscillations was particularly associated with psychiatric behaviors in BMAL1-deficient monkeys, including the occurrence of self-injuring and delusion-like actions. As such psychiatric phenotypes were challenging to uncover in rodent models, our results offered a unique method to study the correlation between circadian clock dysregulation and psychiatric disorders.

14.
Cell Tissue Res ; 396(2): 231-243, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38438567

RESUMEN

C-C motif chemokine ligand 2 (CCL2) has been reported to be expressed in the bovine endometrium during pregnancy. However, the details of its functions involved in the implantation mechanism are still not clear. The purpose of this study is to analyze the functional properties of CCL2 in the bovine endometrium and embryos. The expression of CCR2 was not different between the luteal phase and implantation phase of their endometrial tissues, but was significantly high in IFNa treated bovine endometrial stromal (BES) cells in vitro. The expressions of PGES1, PGES2, AKR1C4, and AKR1C4 were high at the implantation stage compared with the luteal stage. On the other hand, PGES2 and AKR1B1 in BEE and PGES3 and AKR1A1 in BES were significantly increased by CCL2 treatment, respectively. The expressions of PCNA and IFNt were found significantly high in the bovine trophoblastic cells (BT) treated with CCL2 compared to the control. CCL2 significantly increased the attachment rate of BT vesicles to BEE in in vitro co-culture system. The expression of OPN and ICAM-1 increased in BEE, and ICAM-1 increased in BT by CCL2 treatment, respectively. The present results indicate that CCL2 has the potential to regulate the synthesis of PGs in the endometrium and the embryo growth. In addition, CCL2 has the possibility to regulate the process of bovine embryo attachment to the endometrium by modulation of binding molecules expression.


Asunto(s)
Quimiocina CCL2 , Implantación del Embrión , Endometrio , Prostaglandinas , Animales , Bovinos , Femenino , Embarazo , Quimiocina CCL2/metabolismo , Implantación del Embrión/genética , Endometrio/metabolismo , Molécula 1 de Adhesión Intercelular/metabolismo , Interferón Tipo I , Proteínas Gestacionales , Prostaglandinas/metabolismo , Receptores CCR2/metabolismo , Células del Estroma/metabolismo , Trofoblastos/metabolismo , Trofoblastos/citología
15.
In Vivo ; 38(2): 539-545, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38418145

RESUMEN

BACKGROUND/AIM: In the literature, the studies about the role of matrix metalloproteinase-2 (MMP-2) in pterygium diagnosis are mainly based on its protein expression. The role of MMP-2 variants has never been examined. The aim of this study was to examine the association of MMP-2 genotypes with pterygium risk. MATERIALS AND METHODS: MMP-2 rs243865 and rs2285053 were genotyped in 140 pterygium cases and 280 non-pterygium controls by typical polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genotyping technology. RESULTS: The genotypic frequency of MMP-2 rs243865 CC, CT and TT were 86.4%, 12.9% and 0.7% in the pterygium group and 81.1%, 17.1% and 1.8% in the non-pterygium group (p for trend=0.3389). The variant CT and TT carriers had a 0.70- and 0.38-fold pterygium risk (95%CI=0.39-1.26 and 0.04-3.25, p=0.2982 and 0.6686, respectively). As for MMP-2 rs2285053, the genotypic frequency of CC, CT and TT were 67.1%, 28.6% and 4.3% in the pterygium group, non-significantly different from those in non-pterygium group (p for trend=0.7081). The CT and TT carriers had a 0.88- and 0.71-fold pterygium risk (95%CI=0.56-1.38 and 0.27-1.88, p=0.6612 and 0.6456, respectively). The allelic analysis results showed that MMP-2 rs243865 variant T allele was not associated with pterygium risk (7.1% versus 10.4%, OR=0.67, 95%CI=0.39-1.13, p=0.1649). As for MMP-2 rs2285053, the T allele was not associated with pterygium risk either (18.6% versus 21.1%, OR=0.85, 95%CI=0.59-1.23, p=0.4136). CONCLUSION: The genotypes at MMP-2 rs243865 or rs2285053 played minor role in determining individual susceptibility for pterygium among Taiwanese.


Asunto(s)
Conjuntiva , Metaloproteinasa 2 de la Matriz , Pterigion , Humanos , Estudios de Casos y Controles , Conjuntiva/anomalías , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 7 de la Matriz/genética , Polimorfismo de Nucleótido Simple , Pterigion/genética , Taiwán/epidemiología
16.
Cancer Genomics Proteomics ; 21(2): 144-157, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38423600

RESUMEN

BACKGROUND/AIM: The capacity for non-homologous end-joining (NHEJ) repair plays a pivotal role in maintaining genome stability and in carcinogenesis. However, there is little literature on the involvement of NHEJ-related genes in childhood acute lymphocytic leukemia (ALL). Our study aimed to elucidate the impact of polymorphisms of X-ray repair cross-complementing group 4 (XRCC4) (rs6869366, rs2075685, rs2075686, rs28360071, rs3734091, rs28360317, rs1805377), XRCC5 (rs828907, rs11685387, rs9288518), XRCC6 (rs5751129, rs2267437, rs132770, rs132774), XRCC7 rs7003908, and DNA ligase IV (LIG4) rs1805388, on the odds of childhood ALL. MATERIALS AND METHODS: Genotypes NHEJ-related genes of 266 cases and 266 controls were determined, and the genotype-phenotype correlation was investigated by examining mRNA transcript expression and the capacity for overall and precise NHEJ repair. RESULTS: The variant genotypes of XRCC4 rs3734091, rs28360071, XRCC5 rs828907, and XRCC6 rs5751129 were significantly associated with increased odds of childhood ALL. Further analysis based on susceptibility genotypes showed no significant differences in mRNA transcript expression levels among childhood ALL cases with various putative high-risk genotypes, except XRCC6 rs5751129. Moreover, the overall NHEJ repair capacity was similar among carriers of different XRCC4, XRCC5, and XRCC6 genotypes. However, it is worth noting that individuals carrying the variant C allele at XRCC6 rs5751129 exhibited lower precise NHEJ repair capacity compared to those with the wild-type T allele. CONCLUSION: Our study identified significant associations between XRCC4 rs3734091, rs28360071, XRCC5 rs828907, and XRCC6 rs5751129 genotypes and childhood ALL. Notably, lower transcriptional expression and reduced precise NHEJ repair capacity were observed in patients carrying the C allele of XRCC6 rs5751129. Further investigations are required to gain deeper insights into childhood ALL development.


Asunto(s)
Leucemia-Linfoma Linfoblástico de Células Precursoras , Humanos , Genotipo , Alelos , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Reparación del ADN/genética , ARN Mensajero/genética , Predisposición Genética a la Enfermedad , Estudios de Casos y Controles , Polimorfismo de Nucleótido Simple
17.
Prim Care Diabetes ; 18(2): 146-150, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38309986

RESUMEN

BACKGROUND: Glycated hemoglobin A1c (HbA1c) variation or blood pressure (BP) variation was known to be an independent predictor of all-cause mortality in patients with type 2 diabetes mellitus (T2DM). This study aimed to investigate the combined effect of HbA1c and systolic blood pressure (SBP) variation on all-cause mortality and if there was a gender difference in patients with T2DM. METHODS: Patients with T2DM who had at least three HbA1c, SBP measurements within 12-24 months during 2001-2007 were included. Coefficient of variation (CV) was used to evaluate variation. The 75th percentile of HbA1c-CV and SBP-CV were set as a cutoff to define high and low variation. Hazard ratios (HRs) and 95% confidence intervals were estimated using Cox proportional hazard models. RESULTS: A total of 2744 patients were included, of whom 769 died during the 11.7 observation years. The associated risk of all-cause mortality was 1.22 [1.01- 1.48], P = 0.044, for low HbA1c-CV & high SBP-CV; 1.28 [1.04-1.57], P = 0.020, for high HbA1c-CV & low SBP-CV; and 1.68 [1.31-2.17], P < 0.001, for high HbA1c-CV & high SBP-CV. The associated risk remained unchanged in either males or females older than 50 years old, although there is only numerically higher for high HbA1c-CV & low SBP-CV in females older than 50 years old. CONCLUSIONS: Both HbA1c and SBP variation were significant predictors of all-cause mortality in patients with T2DM. The combined effect was higher than either alone and no gender difference in patients older than 50 years old.


Asunto(s)
Diabetes Mellitus Tipo 2 , Masculino , Femenino , Humanos , Persona de Mediana Edad , Hemoglobina Glucada , Presión Sanguínea/fisiología , Modelos de Riesgos Proporcionales , Factores de Riesgo
18.
In Vivo ; 38(1): 127-133, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38148049

RESUMEN

BACKGROUND/AIM: While numerous biomarkers associated with genetic susceptibility to colorectal cancer (CRC) have been identified and validated through epidemiological studies, the specific influence of DNA ligase 4 (Lig4) genotypes remains unexplored. This study aimed to elucidate the hitherto unexamined relationship between Lig4 genotypes and CRC risk. MATERIALS AND METHODS: The genotypes of Lig4 rs1805388 were determined applying the polymerase chain reaction-restriction fragment length polymorphism methodology. The potential association between these genotypes and CRC risk was assessed in a Taiwanese population comprising 362 CRC cases and an equal number of age- and sex-matched controls. RESULTS: In the genotypic analysis, the distribution of CC, CT, and TT genotypes for Lig4 rs1805388 among CRC cases was 54.7%, 38.1%, and 7.2%, respectively. This distribution was not significantly different from the controls, which exhibited genotypic frequencies of 57.2%, 36.7%, and 6.1%, respectively (p for trend=0.7314). Analysis of allelic distribution indicated that individuals carrying the T allele of Lig4 rs1805388 displayed a slightly elevated CRC risk compared to those carrying the C allele (odds ratio=1.10, 95% confidence interval=0.87-1.39, p=0.4685). CONCLUSION: The variant genotypes of Lig4 rs1805388 may not serve as predictive markers for CRC risk in the Taiwanese population.


Asunto(s)
Neoplasias Colorrectales , Polimorfismo de Nucleótido Simple , Humanos , Estudios de Casos y Controles , Neoplasias Colorrectales/epidemiología , Neoplasias Colorrectales/genética , Predisposición Genética a la Enfermedad , Genotipo , Riesgo
19.
Front Cell Infect Microbiol ; 13: 1296118, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38029266

RESUMEN

Introduction: Cryptosporidium, Cystoisospora, and Giardia duodenalis are gastrointestinal protozoa parasites that cause diarrhea in various animals. However, information regarding the detection and phylogenetic characterization of gastrointestinal protozoa parasites in cats is limited throughout South Korea. Therefore, this study aimed to determine the detection and identify subspecies of gastrointestinal protozoa parasites in cats from South Korea. Methods: A total of 290 fecal samples were collected from stray, companion, and shelter cats in six provinces. Cryptosporidium, Cystoisospora, and G. duodenalis were identified by PCR. All positive samples were subtyped by PCR and sequencing of gp60, ITS-1, tpi, bg, and gdh. Results: The overall detection of gastrointestinal protozoan parasitic infection was 17.93%. G. duodenalis was the most prevalent, with 7.93%, followed by Cystoisospora spp. (7.24%) and Cryptosporidium spp. (4.48%). In addition, C. felis (n=10), C. parvum (n=2), C. ryanae (n=1), Cystoisospora felis (n=14), Cystoisospora suis (n=5), Cystoisospora ohioensis (n=1), Cystoisospora spp. were identified in subspecies analysis of positive samples. C. felis showed a significant association with diarrhea (7.81%) and living condition (6.04%), and Cystoisospora felis in diarreha (9.38%) according to detection. Through phylogenetic analysis of the tpi, bg, and gdh genes from 23 G. duodenalispositive samples, it was confirmed that the samples of present study belonged to assemblage A, B, C, and D. Discussion: South Korean cats have a high rate of gastrointestinal protozoan parasites infection with cat-specific Cryptosporidium and Cystoisospora, which are associated with living conditions and diarrhea symptoms. Moreover, zoonotic and other animal-specific subtype of protozoan parasites have been detected in cat feces.


Asunto(s)
Criptosporidiosis , Cryptosporidium , Felis , Giardia lamblia , Giardiasis , Parasitosis Intestinales , Parásitos , Gatos , Animales , Giardia lamblia/genética , Cryptosporidium/genética , Criptosporidiosis/epidemiología , Criptosporidiosis/parasitología , Giardiasis/epidemiología , Giardiasis/veterinaria , Giardiasis/parasitología , Filogenia , Diarrea/veterinaria , Heces/parasitología , República de Corea/epidemiología , Prevalencia , Genotipo
20.
Simul Healthc ; 2023 Nov 13.
Artículo en Inglés | MEDLINE | ID: mdl-37947816

RESUMEN

INTRODUCTION: Most standardized patients (SPs) in Taiwan are middle-aged or older volunteers with a high retention rate and selflessly devote themselves to the service. This study explored the psychological process behind the continued altruistic behaviors of SPs to understand the formation of service motivation, professional identity, and internal transformation. METHODS: Sixteen volunteers, aged 50 to 70 years, who served as SPs for 3 to 11 years in a religious hospital were enrolled in this study. Individual semistructured interviews were conducted. Each person was interviewed for approximately 120 minutes. We used a thematic analysis to analyze the interview transcripts. RESULTS: We identified 3 major themes and 8 subthemes. The first theme, SPs' service motivation, included the following 3 subthemes: past medical experiences, acquisition of medical knowledge, and emotional connections. The second theme, SPs' identity formation, included the following 3 subthemes: role recognition, work ethic, and a sense of religious mission. The third theme, SPs' physical and psychological support, included 2 subthemes: internal transformation and personal well-being. CONCLUSIONS: The interview results showed doctor-patient or life experiences served as the impetus prompting SPs to engage in such altruistic behavior. In addition, identity formation endowed older SPs with a life purpose and a sense of fulfillment and self-actualization through fostering and training medical students. In addition, a clear recognition of the role of an SP and self-worth helped volunteers mitigate any physical and mental problems caused by negative life experiences. Standardized patients continued to complete their tasks with a positive attitude.

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