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1.
Ann Clin Lab Sci ; 54(4): 519-524, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39293835

RESUMEN

OBJECTIVE: The JR blood group system, officially designated ISBT JR 032, consists of a single antigen called Jra. This is a high frequency antigen in most populations. The Jr(a-) phenotype is more prevalent in Japanese and Asian populations. Individuals with the Jr(a-) blood type can be recognized incidentally by the production of anti-Jr(a) antibodies and verified by the existence of two null ABCG2 alleles. METHODS: We used direct sequencing to analyze the genotype frequency of the ABCG2 null allele (c.376C>T, rs72552713) and compared it with East Asian genomic databases. We developed tetra-primer amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), which is a simple, precise method for determining an individual's genotype and suitable for clinical use, and analyzed a cohort of 300 healthy Koreans. RESULTS: Using direct sequencing, we found that 14 individuals in the cohort carried a heterozygous ABCG2 null allele. We optimized the ARMS-PCR technique to detect and identify this null allele precisely. We identified the presence of this null allele in a heterozygous state using ARMS-PCR. CONCLUSION: The minor allele frequency of the ABCG2 null allele in the Korean cohort was 2.3%. The estimated genotype frequencies of homozygotes and heterozygotes for this null allele are 0.05% and 4.56%, respectively. The newly developed ARMS-PCR assay would be useful for determining the Jr(a-) antigen status in patients who produce anti-Jr(a) antibodies as well as for selecting Jr(a-) blood donors.


Asunto(s)
Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 2 , Pueblo Asiatico , Antígenos de Grupos Sanguíneos , Frecuencia de los Genes , Genotipo , Reacción en Cadena de la Polimerasa , Humanos , Antígenos de Grupos Sanguíneos/genética , Frecuencia de los Genes/genética , Reacción en Cadena de la Polimerasa/métodos , Pueblo Asiatico/genética , Transportador de Casetes de Unión a ATP, Subfamilia G, Miembro 2/genética , Alelos , Cartilla de ADN/genética , Proteínas de Neoplasias/genética , República de Corea , Femenino , Pueblos del Este de Asia
2.
Basic Clin Neurosci ; 15(1): 37-48, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39291089

RESUMEN

Introduction: The apolipoprotein E (APOE) genotype has a heterogeneous distribution throughout the world. The present study aimed to characterize the APOE genotype (rs429358, rs7412) in healthy individuals compared with Alzheimer cases in Kerman, southeastern Iran, by two standard mutation scanning methods. Methods: In this case-control study, 90 Alzheimer patients as a case group and 90 healthy individuals as a control group were examined. APOE genotyping was carried out using high-resolution melting (HRM) analysis assay and multiplex tetra-primer amplification-refractory mutation system polymerase chain reaction (T-ARMS PCR) techniques. Results: In contrast to Multiplex T-ARMS PCR, HRM analysis was not efficient in rs7412 genotyping. The results of multiplex T-ARMS showed that ɛ2ɛ3 genotype (P=0.006, odd ratio [OR]=0.119) and ɛ2 allele (P=0.004, OR=0.129) were more prevalent in the control group compared with the case ones, whereas ɛ4 allele was associated with borderline risk of Alzheimer disease (P=0.099, OR=1.76). Conclusion: We concluded that Multiplex T-ARMS PCR could be considered as a better option than HRM analysis for APOE genotyping in terms of speed, accuracy, simplicity, and cheapness in large-scale use. Also, the present study revealed that ɛ2 ɛ3 genotype and ɛ2 allele are protective against Alzheimer whereas the ɛ4 allele cannot be strongly considered as Alzheimer genetic risk factor in Kerman, Iran. The results may help to choose a better technique for APOE genotyping.

3.
Explor Res Clin Soc Pharm ; 15: 100496, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39286029

RESUMEN

Background: Medication non-adherence is a significant barrier to optimal treatment goals. The study explores the association between subjective well-being (SWB) and medication adherence among Lebanese individuals with multiple chronic diseases and identifies additional factors that may influence adherence in this population. Methods: An exploratory, cross-sectional study was conducted for three months at six community pharmacies. Adherence was assessed using the Adherence to Refills and Medication Scale Arabic Lebanese Version (ARMS-A). The SWB was measured using the Arabic Scale of Happiness (ASH), Love of Life Scale (LLS), Arab Hope Scale (AHS), and Satisfaction with Life Scale (SWLS). Spearmen's Rho correlation analyzed the association between ARMS-A and SWB constructs. Binary logistic regression identified predictors of adherence among individuals with chronic diseases and on multiple chronic medications. Results: Of 400 participants, 106 (26.5 %) with a 95 % CI, 0.22-0.31, were adherent. Lower medication adherence (reflected in higher ARMS-A scores) was associated with lower SWB (p = 0.01). Multivariate analysis showed that lower education (OR = 2.21, 95 % CI, 1.01-4.81), lack of a specific diet (OR = 1.64, 95 % CI, 1.01-2.69), and frequent hospital and/or emergency visits (OR = 3.29, 95 % CI, 1.75-6.17 for 2 visits; OR = 2.71, 95 % CI, 1.43-5.14 for ≥3 visits) significantly increased the odds of non-adherence to chronic treatment. However, higher income (OR = 0.06, 95 % CI, 0.01-0.38), healthcare provider occupation (OR = 0.42, 95 % CI, 0.21-0.48), and having diabetes mellitus (OR = 0.59, 95 % CI, 0.36-0.96) correlated with better adherence. Conclusion: A significant portion of participants failed to adhere to their prescribed chronic medications, influenced by multicomplex socioeconomic, psychological, and health-related factors. These findings demonstrate the need for culturally-tailored, pharmacist-led interventions to improve medication adherence and overall health outcomes.

4.
Electrophoresis ; 2024 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-39287077

RESUMEN

Folate has antioxidant properties, and low concentration in seminal plasma may be associated with increased DNA damage in sperm. Mutations of the methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes, including MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), and MTRR A66G (rs1801394), can lead to decreased activity of the encoded folate metabolic enzymes, thereby affecting male reproduction. The current SNP detection methods commonly used in clinical practice have some shortcomings, such as long time-consuming, complex detection steps, or high cost. The purpose of this study was to establish a simple, time-saving, sensitive, accurate, and easy to clinical popularization method for folate metabolism gene detection. We combined ARMS-PCR with TaqMan fluorescent probe to establish an ARMS TaqMan real-time PCR detection method. According to the variation of rs1801131, rs1801133, and rs1801394, two specific primers (one wild type and one mutant) were designed. Mismatched nucleotides were introduced at the penultimate or third position to improve the specificity of the primer. Specific TaqMan probe was introduced to detect PCR products to improve the sensitivity of the method. The results showed that the sensitivity of ARMS TaqMan real-time PCR in SNP genotyping was 1 ng, and the accuracy was 100%. A total of 249 clinical samples were detected by the established method, and the correlation between three SNPs and semen quality was analyzed. We found that individuals carrying the AG + GG genotype of rs1801394 had a lower risk of abnormal semen quality. In conclusion, we developed a highly sensitive, accurate, rapid, and easy to be popularized method for detecting SNPs of rs1801394, rs1801131, and rs1801133. ARMS TaqMan real-time PCR is a reliable SNP genotyping method in folate metabolism genes.

5.
World J Urol ; 42(1): 517, 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39259253

RESUMEN

PURPOSE: Robot-assisted laparoscopic radical prostatectomy (RARP) is the most common robotic procedures performed in urologic oncology. The Hugo Robot-Assisted Surgery (RAS) System (Medtronic, USA©) has recently been launched on the market and is characterized by the modularity of four different independent arm carts. The aim of this study is to describe and evaluate safety and feasibility of three-arms setting for RARP using the Hugo RAS™ System in a large case series. METHODS: Between October 2022 and December 2023, a large case series of patients from two tertiary referral center who underwent RARP through HUGO™ RAS were prospectively enrolled. Informed written consent was obtained before the procedure and a three-arms setting was used in every case. Follow-up was scheduled according to EAU guidelines. RESULTS: A total of 86 patients were included in this study and underwent RARP with Hugo™ RAS System. Median Console time time was 114 min (IQR, 75-150), median docking time 4 min (IQR, 3-5). Lymphadenectomy was successfully performed when indicated in 19 patients (22.1%). A vesicourethral anastomosis using the modified Van Velthoven technique was successfully achieved in all cases. No post-operative complications > Clavien II up to 30 post-operative days were reported. In all patients, catheter was removed on the 7th postoperative day. CONCLUSION: We conducted the first large case series of RARP through the novel Hugo™ RAS System using a three-arms configuration. This innovative robotic platform showed an easily accessible docking system, providing excellent perioperative outcomes.


Asunto(s)
Estudios de Factibilidad , Prostatectomía , Neoplasias de la Próstata , Procedimientos Quirúrgicos Robotizados , Humanos , Masculino , Prostatectomía/métodos , Procedimientos Quirúrgicos Robotizados/métodos , Persona de Mediana Edad , Anciano , Neoplasias de la Próstata/cirugía , Estudios Prospectivos , Diseño de Equipo , Laparoscopía/métodos
6.
Int J Mol Sci ; 25(17)2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39273697

RESUMEN

Age-related macular degeneration (AMD) is a major global health problem as it is the leading cause of irreversible loss of central vision in the aging population. Anti-vascular endothelial growth factor (anti-VEGF) therapies are effective but do not respond optimally in all patients. This study investigates the genetic factors associated with susceptibility to AMD and response to treatment, focusing on key polymorphisms in the ARMS2 (rs10490924), IL1B1 (rs1143623), TNFRSF1B (rs1061622), TNFRSF1A (rs4149576), VEGFA (rs3024997), ARMS2, IL1B1, TNFRSF1B, TNFRSF1A, and VEGFA serum levels in AMD development and treatment efficacy. This study examined the associations of specific genetic polymorphisms and serum protein levels with exudative and early AMD and the response to anti-VEGF treatment. The AA genotype of VEGFA (rs3024997) was significantly associated with a 20-fold reduction in the odds of exudative AMD compared to the GG + GA genotypes. Conversely, the TT genotype of ARMS2 (rs10490924) was linked to a 4.2-fold increase in the odds of exudative AMD compared to GG + GT genotypes. In females, each T allele of ARMS2 increased the odds by 2.3-fold, while in males, the TT genotype was associated with a 5-fold increase. Lower serum IL1B levels were observed in the exudative AMD group compared to the controls. Early AMD patients had higher serum TNFRSF1B levels than controls, particularly those with the GG genotype of TNFRSF1B rs1061622. Exudative AMD patients with the CC genotype of TNFRSF1A rs4149576 had lower serum TNFRSF1A levels compared to the controls. Visual acuity (VA) analysis showed that non-responders had better baseline VA than responders but experienced decreased VA after treatment, whereas responders showed improvement. Central retinal thickness (CRT) reduced significantly in responders after treatment and was lower in responders compared to non-responders after treatment. The T allele of TNFRSF1B rs1061622 was associated with a better response to anti-VEGF treatment under both dominant and additive genetic models. These findings highlight significant genetic and biochemical markers associated with AMD and treatment response. This study found that the VEGFA rs3024997 AA genotype reduces the odds of exudative AMD, while the ARMS2 rs10490924 TT genotype increases it. Lower serum IL1B levels and variations in TNFRSF1B and TNFRSF1A levels were linked to AMD. The TNFRSF1B rs1061622 T allele was associated with better anti-VEGF treatment response. These markers could potentially guide risk assessment and personalized treatment for AMD.


Asunto(s)
Interleucina-1beta , Degeneración Macular , Polimorfismo de Nucleótido Simple , Receptores Tipo I de Factores de Necrosis Tumoral , Factor A de Crecimiento Endotelial Vascular , Humanos , Factor A de Crecimiento Endotelial Vascular/genética , Factor A de Crecimiento Endotelial Vascular/sangre , Masculino , Femenino , Degeneración Macular/genética , Degeneración Macular/tratamiento farmacológico , Degeneración Macular/sangre , Degeneración Macular/patología , Anciano , Interleucina-1beta/genética , Interleucina-1beta/sangre , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Receptores Tipo I de Factores de Necrosis Tumoral/sangre , Anciano de 80 o más Años , Predisposición Genética a la Enfermedad , Persona de Mediana Edad , Genotipo , Alelos , Proteínas , Receptores Tipo II del Factor de Necrosis Tumoral
7.
Biometrics ; 80(3)2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-39271117

RESUMEN

In randomized controlled trials, adjusting for baseline covariates is commonly used to improve the precision of treatment effect estimation. However, covariates often have missing values. Recently, Zhao and Ding studied two simple strategies, the single imputation method and missingness-indicator method (MIM), to handle missing covariates and showed that both methods can provide an efficiency gain compared to not adjusting for covariates. To better understand and compare these two strategies, we propose and investigate a novel theoretical imputation framework termed cross-world imputation (CWI). This framework includes both single imputation and MIM as special cases, facilitating the comparison of their efficiency. Through the lens of CWI, we show that MIM implicitly searches for the optimal CWI values and thus achieves optimal efficiency. We also derive conditions under which the single imputation method, by searching for the optimal single imputation values, can achieve the same efficiency as the MIM. We illustrate our findings through simulation studies and a real data analysis based on the Childhood Adenotonsillectomy Trial. We conclude by discussing the practical implications of our findings.


Asunto(s)
Simulación por Computador , Modelos Estadísticos , Ensayos Clínicos Controlados Aleatorios como Asunto , Ensayos Clínicos Controlados Aleatorios como Asunto/estadística & datos numéricos , Ensayos Clínicos Controlados Aleatorios como Asunto/métodos , Humanos , Interpretación Estadística de Datos , Niño , Biometría/métodos , Adenoidectomía/estadística & datos numéricos , Tonsilectomía/estadística & datos numéricos
8.
Mol Biol Rep ; 51(1): 963, 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39235569

RESUMEN

BACKGROUND: Bovine leukocyte adhesion deficiency (BLAD), bovine citrullinemia (BC), and deficiency of Uridine monophosphate synthetase (DUMPS) are the common autosomal recessive disorders affecting the global dairy industry. BLAD leads to poor wound healing and recurrent infections. In BC, ammonia builds up leading to neurological disorders and death. DUMPS results in developmental abnormalities. METHODOLOGY: In this study, tetra-primer amplification refractory mutation system polymerase chain reaction (ARMS PCR) based diagnostic tests were optimized for BLAD, BC, and DUMPS. A total of 250 animals (58 indigenous and 192 Holstein Friesian (HF)) were screened from all across Pakistan. In addition to validation of ARMS-PCR results through Sanger sequencing, the protein modeling provided structural insights of the disease-associated reported SNPs. Pathway analysis illustrated gene functions under normal and mutated conditions. Furthermore, haplotype and phylogenetic analysis of ASS1 (Argininosuccinate synthetase) gene were performed on study samples and NCBI retrieved sequences. RESULTS: The study's focus was to screen the herds for prevalence of carriers of genetic disorders, as they are the main source of disease dissemination. One animal was found carrier for BC, whereas no carriers were found for BLAD and DUMPS. The protein models corroborated the reported amino acid change in BLAD, and protein truncation in both BC and DUMPS proteins. SNPs found in NCBI retrieved sequences were either silent or missense and had no effect on protein structure. DNA network presented graphical illustration of haplotype interactions and phylogenetic analysis conferred evolutionary landscape of ASS1 gene. The combination of these approaches produced an in-depth genetic picture of BC in Pakistani cattle. CONCLUSION: The development of diagnostic tests and identification of the heterozygous BC sample underscores the significance of constant monitoring to avoid the unwanted dissemination of mutant alleles among Pakistani cattle, thereby promoting the general well-being and sustainability of the dairy sector.


Asunto(s)
Enfermedades de los Bovinos , Polimorfismo de Nucleótido Simple , Animales , Bovinos , Pakistán , Enfermedades de los Bovinos/genética , Enfermedades de los Bovinos/diagnóstico , Polimorfismo de Nucleótido Simple/genética , Síndrome de Deficiencia de Adhesión del Leucocito/genética , Síndrome de Deficiencia de Adhesión del Leucocito/diagnóstico , Síndrome de Deficiencia de Adhesión del Leucocito/veterinaria , Filogenia , Reacción en Cadena de la Polimerasa/métodos , Haplotipos/genética , Argininosuccinato Sintasa/genética , Argininosuccinato Sintasa/metabolismo , Variación Genética/genética , Mutación/genética
9.
JMIR Form Res ; 8: e57588, 2024 Sep 06.
Artículo en Inglés | MEDLINE | ID: mdl-39241226

RESUMEN

This single-participant case study examines the feasibility of using custom virtual reality (VR) gaming software in the home environment for low-dose Hand Arm Bimanual Intensive Training (HABIT). A 10-year-old with right unilateral cerebral palsy participated in this trial. Fine and gross motor skills as well as personal goals for motor outcomes were assessed before and after the intervention using the Box and Blocks Test, Nine-Hole Peg Test, and Canadian Occupational Performance Measure. Movement intensities collected via the VR hardware accelerometers, VR game scores, and task accuracy were recorded via the HABIT-VR software as indices of motor performance. The child and family were instructed to use the HABIT-VR games twice daily for 30 minutes over a 14-day period and asked to record when they used the system. The child used the system and completed the 14-hour, low-dose HABIT-VR intervention across 22 days. There was no change in Box and Blocks Test and Nine-Hole Peg Test scores before and after the intervention. Canadian Occupational Performance Measure scores increased but did not reach the clinically relevant threshold, due to high scores at baseline. Changes in motor task intensities during the use of VR and mastery of the VR bimanual tasks suggested improved motor efficiency. This case study provides preliminary evidence that HABIT-VR is useful for promoting adherence to HABIT activities and for the maintenance of upper extremity motor skills in the home setting.


Asunto(s)
Parálisis Cerebral , Estudios de Factibilidad , Realidad Virtual , Humanos , Parálisis Cerebral/rehabilitación , Parálisis Cerebral/fisiopatología , Niño , Masculino , Destreza Motora/fisiología , Juegos de Video , Brazo , Mano/fisiología , Femenino
10.
Mol Biol Evol ; 41(9)2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39189646

RESUMEN

Heterochromatin is a gene-poor and repeat-rich genomic compartment universally found in eukaryotes. Despite its low transcriptional activity, heterochromatin plays important roles in maintaining genome stability, organizing chromosomes, and suppressing transposable elements. Given the importance of these functions, it is expected that genes involved in heterochromatin regulation would be highly conserved. Yet, a handful of these genes were found to evolve rapidly. To investigate whether these previous findings are anecdotal or general to genes modulating heterochromatin, we compile an exhaustive list of 106 candidate genes involved in heterochromatin functions and investigate their evolution over short and long evolutionary time scales in Drosophila. Our analyses find that these genes exhibit significantly more frequent evolutionary changes, both in the forms of amino acid substitutions and gene copy number change, when compared to genes involved in Polycomb-based repressive chromatin. While positive selection drives amino acid changes within both structured domains with diverse functions and intrinsically disordered regions, purifying selection may have maintained the proportions of intrinsically disordered regions of these proteins. Together with the observed negative associations between the evolutionary rate of these genes and the genomic abundance of transposable elements, we propose an evolutionary model where the fast evolution of genes involved in heterochromatin functions is an inevitable outcome of the unique functional roles of heterochromatin, while the rapid evolution of transposable elements may be an effect rather than cause. Our study provides an important global view of the evolution of genes involved in this critical cellular domain and provides insights into the factors driving the distinctive evolution of heterochromatin.


Asunto(s)
Evolución Molecular , Heterocromatina , Heterocromatina/genética , Animales , Elementos Transponibles de ADN , Drosophila/genética , Selección Genética , Drosophila melanogaster/genética , Dosificación de Gen
11.
Sci Rep ; 14(1): 19909, 2024 08 28.
Artículo en Inglés | MEDLINE | ID: mdl-39198547

RESUMEN

PCR is tolerant to single nucleotide mismatches. Therefore, genotyping of point mutations by PCR requires special conditions for the amplification of allele-specific PCR fragments. MS-PCR (mutagenically separated PCR) is an improved version of ARMS (amplification refractory mutation system) in which additional nucleotide mismatches near the mutation site are used to separate the wt fragments from the mutant fragments in a single-tube PCR. In the originally described procedure, the resulting fragments are resolved on agarose gels according to differences in size introduced by different lengths of the allele-specific primers. In order to evaluate the PCR fragments by melting curve analysis, we enlarged the difference in the melting temperatures of the fragments of the two alleles by increasing the GC content of the longer allele-specific primer resulting in a higher melting temperature of the corresponding fragment. Using the murine retinal degeneration mutations rd1 and rd8 as an example, we show that such primers result in an easy to handle genotyping procedure: qPCR followed by melting curve analysis. In summary, MS-PCR is a simple and easy-to-use method for detecting single nucleotide variants.


Asunto(s)
Técnicas de Genotipaje , Mutación Puntual , Animales , Ratones , Técnicas de Genotipaje/métodos , Genotipo , Alelos , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Temperatura de Transición , Polimorfismo de Nucleótido Simple , Cartilla de ADN/genética , Degeneración Retiniana/genética , Reacción en Cadena de la Polimerasa/métodos , Desnaturalización de Ácido Nucleico/genética
12.
PeerJ ; 12: e17678, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39119105

RESUMEN

Take-off is a vital part of powered flight which likely constrains the size of birds, yet extinct pterosaurs are known to have reached far larger sizes. Three different hypothesised take-off motions (bipedal burst launching, bipedal countermotion launching, and quadrupedal launching) have been proposed as explanations for how pterosaurs became airborne and circumvented this proposed morphological limit. We have constructed a computational musculoskeletal model of a 5 m wingspan ornithocheiraean pterosaur, reconstructing thirty-four key muscles to estimate the muscle moment arms throughout the three hypothesised take-off motions. Range of motion constrained hypothetical kinematic sequences for bipedal and quadrupedal take-off motions were modelled after extant flying vertebrates. Across our simulations we did not find higher hindlimb moment arms for bipedal take-off motions or noticeably higher forelimb moment arms in the forelimb for quadrupedal take-off motions. Despite this, in all our models we found the muscles utilised in the quadrupedal take-off have the largest total launch applicable moment arms throughout the entire take-off sequences and for the take-off pose. This indicates the potential availability of higher leverage for a quadrupedal take-off than hypothesised bipedal motions in pterosaurs pending further examination of muscle forces.


Asunto(s)
Dinosaurios , Vuelo Animal , Animales , Fenómenos Biomecánicos , Vuelo Animal/fisiología , Dinosaurios/fisiología , Dinosaurios/anatomía & histología , Músculo Esquelético/fisiología , Músculo Esquelético/anatomía & histología , Fósiles , Modelos Biológicos , Miembro Anterior/fisiología , Miembro Anterior/anatomía & histología , Simulación por Computador
13.
Value Health Reg Issues ; 44: 101027, 2024 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-39146691

RESUMEN

OBJECTIVE: This study aimed to conduct a psychometric evaluation of the Adherence to Refills and Medications Scale (ARMS) among patients with HIV/AIDS in Indonesia. METHODS: Psychometric analysis was conducted at 2 hospitals and 7 public health centers at the voluntary counseling and testing clinic. Content validity was measured by assessing the relevance and clarity of each ARMS item. Construct validity was also assessed. Reliability was evaluated using internal consistency and test-retest reliability. RESULTS: This study involved 11 experts in the assessment of the content validity and 240 participants in the estimation of the construct validity. All ARMS items were generally considered easy to understand and relevant, with scale-level content validity index based on the average method (S-CVI/Ave) of 0.9 (>0.78) and item-level content validity index (I-CVI) in the range from 0.5 to 1 for the relevance level and S-CVI/Ave of 0.95 (>0.78) and I-CVI in the range from 0.8 to 1 for the clarity level. Two items (numbers 2 and 3) were revised based on experts' suggestions to enhance comprehension. Confirmatory factor analysis supported 2 subscales: adherence to taking medications and adherence to refilling prescriptions. Good reliability was supported by internal consistency (Cronbach's α 0.793) and test-retest reliability (intraclass correlation coefficient 0.722) for the overall adherence score. CONCLUSIONS: The Indonesian version of ARMS is a valid and reliable medication adherence scale when used in Indonesian patients with HIV/AIDS.

14.
BMC Med Res Methodol ; 24(1): 182, 2024 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-39152400

RESUMEN

BACKGROUND: Spillover of effect, whether positive or negative, from intervention to control group patients invalidates the Stable Unit Treatment Variable Assumption (SUTVA). SUTVA is critical to valid causal inference from randomized concurrent controlled trials (RCCT). Spillover of infection prevention is an important population level effect mediating herd immunity. This herd effect, being additional to any individual level effect, is subsumed within the overall effect size (ES) estimate derived by contrast-based techniques from RCCT's. This herd effect would manifest only as increased dispersion among the control group infection incidence rates above background. METHODS AND RESULTS: The objective here is to explore aspects of spillover and how this might be visualized and diagnosed. I use, for illustration, data from 190 RCCT's abstracted in 13 Cochrane reviews of various antimicrobial versus non-antimicrobial based interventions to prevent pneumonia in ICU patients. Spillover has long been postulated in this context. Arm-based techniques enable three approaches to identify increased dispersion, not available from contrast-based techniques, which enable the diagnosis of spillover within antimicrobial versus non-antimicrobial based infection prevention RCCT's. These three approaches are benchmarking the pneumonia incidence rates versus a clinically relevant range, comparing the dispersion in pneumonia incidence among the control versus the intervention groups and thirdly, visualizing the incidence dispersion within summary receiver operator characteristic (SROC) plots. By these criteria there is harmful spillover effects to concurrent control group patients. CONCLUSIONS: Arm-based versus contrast-based techniques lead to contrary inferences from the aggregated RCCT's of antimicrobial based interventions despite similar summary ES estimates. Moreover, the inferred relationship between underlying control group risk and ES is 'flipped'.


Asunto(s)
Ensayos Clínicos Controlados Aleatorios como Asunto , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto/métodos , Neumonía/diagnóstico , Incidencia , Pruebas Diagnósticas de Rutina/métodos , Pruebas Diagnósticas de Rutina/estadística & datos numéricos , Unidades de Cuidados Intensivos/estadística & datos numéricos
15.
Life (Basel) ; 14(8)2024 Jul 28.
Artículo en Inglés | MEDLINE | ID: mdl-39202691

RESUMEN

PCOS is a heterogeneous, multifactorial endocrine disorder with a complex pathophysiology. It is a globally rising infertility disorder that affects a large percentage of women of reproductive age, with a relatively high prevalence of 8-13%. Genome-wide association studies have revealed associations of genetic variations with many diseases, including PCOS. The cellular activity of IL8 is mediated by the receptor CXCR2, and transcription of IL8 is controlled by TNF-α. Therefore, this study aimed to investigate the association of TNF-α, CCR5-delta32, and CXCR2 gene variations with PCOS. METHODOLOGY: In this case control study, we used amplification-refractory mutation system (ARMS)-PCR to detect and determine the presence of the polymorphic variants TNF-α, CCR5-delta32, and CXCR2 in the study subjects. These gene polymorphs may serve as critical candidate gene variants in PCOS pathogenesis and therapeutics. RESULTS: The case-control study's findings revealed that the majority of the biochemical and endocrine serum biomarkers examined in the investigation-including lipids (LDL, HDL, and cholesterol), T2DM markers (fasting glucose, free insulin, and HOMA-IR), and hormones (FSH, LH, testosterone, and progesterone)-exhibited statistically significant changes in PCOS patients. The distributions of TNF-α (rs1800629), CCR5-delta32, and CXCR2 (rs2230054) genotypes analyzed within PCOS patients and healthy controls in the considered population were significant (p < 0.05). The heterozygosity of CXCR2-CA, TNF-α GA, and CCR5(WT+Δ32*) genotypes was significantly associated with PCOS susceptibility, with high OR and p < 0.05 in the codominant model. Similarly, the A allele of the TNF-α and CXCR2 genes, along with the CCR5Δ32*(mutant) allele, was significantly associated with PCOS susceptibility, with high OR and p < 0.05. Likewise, the CXCR2 (CA+AA) vs CC genotype was associated with increased susceptibility to PCOS, with OR 2.25, p < 0.032. CONCLUSIONS: Our study concludes that TNF-α rs1800629G>A, CXCR2-rs2230054C>T, and CCR5-Delta32 rs333 are potential loci for developing PCOS in the Tabuk population. These findings might eventually be useful in identifying and classifying those who are at risk for PCOS. To validate these results, it is advised that further longitudinal studies be conducted in diverse ethnic populations and with larger sample sizes.

16.
Proc Natl Acad Sci U S A ; 121(35): e2407876121, 2024 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-39159378

RESUMEN

Coevolution between predator and prey plays a central role in shaping the pelagic realm and may have significant implications for marine ecosystems and nutrient cycling dynamics. The siliceous diatom frustule is often assumed to have coevolved with the silica-lined teeth of copepods, but empirical evidence of how this relationship drives natural selection and evolution is still lacking. Here, we show that feeding on diatoms causes significant wear and tear on copepod teeth and that this leads to copepods becoming selective feeders. Teeth from copepods feeding on thick-shelled diatoms were more likely to be broken or cracked than those feeding on a dinoflagellate. When fed a large diatom, all analyzed teeth had visible wear. Our results underscore the importance of the predator-prey arms race as a driving force in planktonic evolution and diversity.


Asunto(s)
Evolución Biológica , Copépodos , Diatomeas , Plancton , Animales , Copépodos/fisiología , Plancton/fisiología , Conducta Predatoria/fisiología , Ecosistema , Dióxido de Silicio , Diente
17.
Am Nat ; 204(3): E57-E69, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39179231

RESUMEN

AbstractMutualisms constitute a diverse class of ecologically important interactions, yet their ecological and evolutionary stability remain topics of debate in coevolutionary theory. Recent theoretical and empirical work has suggested that coevolutionary arms races may be involved in the maintenance of mutualistic interactions, sustaining mutually beneficial outcomes for interacting species while producing exaggerated traits. Here we present an individual-based model that evaluates how asynchronous life histories-that is, partners with different average lifespans-change the dynamics of trait coevolution, the expected fitness outcomes for species involved, and the dynamics of selection differentials across time for each species. Results indicate that a longer-lived mutualist will consistently "lose" an otherwise balanced coevolutionary arms race, being outpaced in both the mean trait value and fitness outcome compared with a shorter-lived partner. Furthermore, linear selection differentials on mutualistic traits become increasingly divergent as life histories become increasingly asynchronous, with the longer-lived species experiencing persistent directional selection and the shorter-lived species experiencing weaker, more inconsistent selection. These results suggest that asynchronous life histories can complicate the maintenance of mutualistic interactions via coevolutionary arms races and that detecting coevolution via selection differentials may be difficult when life histories are sufficiently divergent.


Asunto(s)
Selección Genética , Simbiosis , Evolución Biológica , Modelos Biológicos , Rasgos de la Historia de Vida , Coevolución Biológica , Animales
18.
J Neural Eng ; 21(4)2024 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-38959877

RESUMEN

Objective. Traditionally known for its involvement in emotional processing, the amygdala's involvement in motor control remains relatively unexplored, with sparse investigations into the neural mechanisms governing amygdaloid motor movement and inhibition. This study aimed to characterize the amygdaloid beta-band (13-30 Hz) power between 'Go' and 'No-go' trials of an arm-reaching task.Approach. Ten participants with drug-resistant epilepsy implanted with stereoelectroencephalographic (SEEG) electrodes in the amygdala were enrolled in this study. SEEG data was recorded throughout discrete phases of a direct reach Go/No-go task, during which participants reached a touchscreen monitor or withheld movement based on a colored cue. Multitaper power analysis along with Wilcoxon signed-rank and Yates-correctedZtests were used to assess significant modulations of beta power between the Response and fixation (baseline) phases in the 'Go' and 'No-go' conditions.Main results. In the 'Go' condition, nine out of the ten participants showed a significant decrease in relative beta-band power during the Response phase (p⩽ 0.0499). In the 'No-go' condition, eight out of the ten participants presented a statistically significant increase in relative beta-band power during the response phase (p⩽ 0.0494). Four out of the eight participants with electrodes in the contralateral hemisphere and seven out of the eight participants with electrodes in the ipsilateral hemisphere presented significant modulation in beta-band power in both the 'Go' and 'No-go' conditions. At the group level, no significant differences were found between the contralateral and ipsilateral sides or between genders.Significance.This study reports beta-band power modulation in the human amygdala during voluntary movement in the setting of motor execution and inhibition. This finding supplements prior research in various brain regions associating beta-band power with motor control. The distinct beta-power modulation observed between these response conditions suggests involvement of amygdaloid oscillations in differentiating between motor inhibition and execution.


Asunto(s)
Amígdala del Cerebelo , Brazo , Ritmo beta , Desempeño Psicomotor , Humanos , Amígdala del Cerebelo/fisiología , Masculino , Femenino , Adulto , Ritmo beta/fisiología , Desempeño Psicomotor/fisiología , Brazo/fisiología , Adulto Joven , Movimiento/fisiología , Persona de Mediana Edad , Epilepsia Refractaria/fisiopatología , Electroencefalografía/métodos
19.
Clin Rheumatol ; 43(9): 2943-2954, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39008222

RESUMEN

This study aimed to examine psychometric properties of the Adherence to Refills and Medications Scale (ARMS) in people with gout. We conducted exploratory factor analysis (EFA) and tested internal consistency (ordinal and Cronbach's alpha coefficients) and agreement (intraclass correlation coefficient (2,1)) in ARMS scores across three timepoints (baseline, 6, and 12 months) in 487 people with gout. The Kruskal-Wallis test, Spearman's rank, Kendall's tau-b correlations, and logistic regression were used to examine the criterion-related validity of the ARMS and factors associated with the ARMS. EFA suggested a one-factor structure, explaining 43.2% of total variance. High internal consistency (ordinal alpha = 0.902 at baseline) and moderate agreement in ARMS scores over time (ICCs > 0.5; p < 0.001) were observed. Lower ARMS scores (indicating better adherence) predicted achieving target serum urate (OR, 0.89; 95% CI, 0.83-0.95; p < 0.001), but not urate-lowering therapy (ULT) adherence (Proportion of Days Covered (PDC) ≥ 80%) (OR, 0.93; 95% CI, 0.81-1.05; p = 0.261). Negative correlations between ARMS and PDC were not statistically significant (Kendall's tau-b, r = - 0.126, p = 0.078; Spearman's rho = - 0.173, p < 0.073). Differences in median ARMS scores (IQR) of 16 (14-20), 13 (12-15), and 17.5 (15-21) in three groups of participants who reported (1) not taking ULT, (2) taking ULT and adherent, and (3) taking ULT but not adherent, respectively, were statistically significant (p < 0.001). Age was the only patient factor independently associated with optimal adherence (ARMS score = 12) (OR, 1.91; 95% CI, 1.50-2.43; p < 0.001). The ARMS is a reliable and valid measure of medication adherence behaviours in people with gout, justifying its use in gout medication adherence research.


Asunto(s)
Supresores de la Gota , Gota , Cumplimiento de la Medicación , Psicometría , Humanos , Gota/tratamiento farmacológico , Masculino , Femenino , Cumplimiento de la Medicación/estadística & datos numéricos , Persona de Mediana Edad , Anciano , Supresores de la Gota/uso terapéutico , Australia , Adulto , Encuestas y Cuestionarios , Ácido Úrico/sangre , Análisis Factorial , Reproducibilidad de los Resultados , Modelos Logísticos , Pueblos de Australasia
20.
Br J Clin Psychol ; 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38946546

RESUMEN

OBJECTIVES: Early interventions improve outcomes for people at high risk of psychosis and are likely to be cost saving. This group tends to seek help for emotional problems - depression and anxiety - via primary care services, where early detection methods are poor. We sought to determine prevalence rates of high risk for psychosis in UK primary care mental health services and clinical outcomes following routinely delivered psychological therapies. METHODS: We used a brief screen designed for settings with low base rates and significant time constraints to determine prevalence of high risk for psychosis in UK 'Talking Therapies' services. We examined socio-demographic characteristics, presenting problems and recovery trajectories for this group, compared with people not at risk of psychosis. RESULTS: A 2-item screen selected for specificity yielded a prevalence rate of 3% in primary care mental health services. People at elevated risk of psychosis were younger and more likely to report at least one long-term physical condition. This group presented with higher levels of depression, anxiety and trauma symptoms at assessment and were less likely to have recovered at the end of treatment, compared to people not at risk. CONCLUSIONS: Very brief screening tools can be implemented in busy health care settings. The 3% of referrals to UK primary care psychological therapies services at elevated risk of psychosis typically present with more severe symptoms and greater levels of comorbidity and may require augmented interventions to recover fully.

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