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1.
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
2.
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.

3.
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.

4.
ArXiv ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38979485

RESUMEN

We introduce an ultrahigh-resolution (50µm) robotic micro-CT design for localized imaging of carotid plaques using robotic arms, cutting-edge detector, and machine learning technologies. To combat geometric error-induced artifacts in interior CT scans, we propose a data-driven geometry estimation method that maximizes the consistency between projection data and the reprojection counterparts of a reconstructed volume. Particularly, we use a normalized cross correlation metric to overcome the projection truncation effect. Our approach is validated on a robotic CT scan of a sacrificed mouse and a micro-CT phantom scan, both producing sharper images with finer details than that prior correction.

5.
Res Pract Thromb Haemost ; 8(4): 102467, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-39040518

RESUMEN

Background: Coagulopathies are frequently observed in alveolar rhabdomyosarcoma (ARMS), with disseminated intravascular coagulation (DIC) being the most common presentation. However, hyperfibrinolysis represents a distinct but often overlapping and potentially life-threatening subset of coagulation disorders that requires specific diagnostic and management approaches. Key Clinical Question: How can clinicians identify hyperfibrinolysis and what are the implications for management? Clinical Approach: This case report describes a 25-year-old man with metastatic ARMS arising from the prostate who developed persistent gross hematuria one week after initiating chemotherapy. A comprehensive coagulation workup was performed, including assessment of platelet count, prothrombin time, activated partial thromboplastin time, fibrinogen, D-dimer, and fibrin degradation products. Management included repletion of fibrinogen and the use of anti-fibrinolytic agents. Conclusion: Recognizing hyperfibrinolysis in ARMS patients is crucial for appropriate management. Clinicians should maintain a high index of suspicion for hyperfibrinolysis in ARMS patients presenting with severe coagulation abnormalities, particularly those with prostatic involvement or undergoing chemotherapy. In cases of primary hyperfibrinolysis, antifibrinolytic agents may be considered, whereas they are generally contraindicated in DIC.

6.
Mol Biol Rep ; 51(1): 793, 2024 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-39001985

RESUMEN

BACKGROUND: Recurrent miscarriage (RM) is defined as the occurrence of at least two or three subsequent miscarriages within the 20th -24th weeks of pregnancy. The primary objective of this study was to investigate whether histidine-rich glycoprotein C633T single nucleotide polymorphism (HRG C633T SNP) statistically correlates with the occurrence of RM among Iranian women. METHODS AND RESULTS: Blood samples from 200 women were taken at the outset of the study. Then, the blood samples of 100 women who had a record of RM (case group) were compared with the other 100 women's blood samples who had no record of RM (control group). Following DNA extraction, the polymorphism of histidine-rich glycoprotein C633T (HRG C633T) for every case was specified and all women were genotyped by the amplification-refractory mutation system (ARMS) method. The results of the study revealed that there was a statistically significant difference between T/T genotype (OR = 3.5, CI (1.39-8.77), p = 0.007), and C/T genotype (OR = 1.83, CI (0.99-3.37), p = 0.05) in the case and control groups. Also, a statistically significant association was observed in T allelic frequency in the RM participants compared to the control group (OR = 2.01, CI (1.31-3.09), p = 0.01). CONCLUSIONS: The present study determined that there was a statistically significant relationship between HRG C633T SNP and increased RM regarding allelic and genotypical aspects. Moreover, it became apparent that women with homozygous T/T genotype were more susceptible to the risk of RM.


Asunto(s)
Aborto Habitual , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Proteínas , Adulto , Femenino , Humanos , Embarazo , Aborto Habitual/genética , Alelos , Estudios de Casos y Controles , Frecuencia de los Genes/genética , Estudios de Asociación Genética , Genotipo , Irán , Polimorfismo de Nucleótido Simple/genética , Proteínas/genética
7.
Clin Rheumatol ; 2024 Jul 15.
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.

8.
Ecol Evol ; 14(7): e11697, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39026945

RESUMEN

Most herbivorous insects are host-plant specialists that evolved detoxification mechanisms to overcome their host plant's toxins. In the evolutionary arms-races between Pieridae butterflies and Brassicaceae plants, some plant species have evolved another defence against the pierids: egg-killing. Underneath the eggs, leaves develop a so-called hypersensitive response (HR)-like cell death. Whether some butterflies have evolved oviposition strategies to counter-adapt against egg-killing remains to be studied. In this study, we assessed the oviposition site location of Pieridae butterflies on their natural host plants. We described the plant tissue on which we located the eggs of the most common Pieridae in the Netherlands: Gonepteryx rhamni, Anthocharis cardamines, Pieris rapae, P. napi, P. brassicae and P. mannii. Additionally, we assessed expression of HR-like cell death in response to the deposited butterfly eggs. We found that both A. cardamines and G. rhamni mainly oviposited on the floral stem and the branch, respectively, and oviposited on host plants from lineages not expected to kill pierid eggs. Accordingly, no HR-like cell death was seen. All Pieris eggs found were located on leaves of their host, the only tissue found to express HR-like cell death. Furthermore, each Pieris species was found to at least occasionally oviposit on Brassica nigra. This was the only plant species in this survey that expressed HR-like cell death in response to the eggs of P. rapae, P. napi and P. brassicae. Our observations demonstrate that HR-like cell death remains an effective defence strategy against these Pieris species and as such did not find evidence for the hypothesized counterstrategies. Surveying certain key species and disentangling the micro-evolution of oviposition strategies within a species would allow us to further investigate potential counter-adaptations that evolved against HR-like cell death. This study provides the basis for further investigation of potential counter-adaptations to egg-killing defences.

9.
Biomedicines ; 12(7)2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-39062052

RESUMEN

One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the macula. AMD is a complex and multifaceted disease influenced by several factors such as aging, environmental risk factors, and a person's genetic susceptibility to the condition. The interaction among these factors leads to the initiation and advancement of AMD, where genetic predisposition plays a crucial role. With the advent of high-throughput genotyping technologies, many novel genetic loci associated with AMD have been identified, enhancing our knowledge of its genetic architecture. The common genetic variants linked to AMD are found on chromosome 1q32 (in the complement factor H gene) and 10q26 (age-related maculopathy susceptibility 2 and high-temperature requirement A serine peptidase 1 genes) loci, along with several other risk variants. This review summarizes the common genetic variants of complement pathways, lipid metabolism, and extracellular matrix proteins associated with AMD risk, highlighting the intricate pathways contributing to AMD pathogenesis. Knowledge of the genetic underpinnings of AMD will allow for the future development of personalized diagnostics and targeted therapeutic interventions, paving the way for more effective management of AMD and improved outcomes for affected individuals.

10.
Biomimetics (Basel) ; 9(7)2024 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-39056876

RESUMEN

Two innovative acceleration-layer configuration amendment (CA) schemes are proposed to achieve the CA of constrained redundant robot arms. Specifically, by applying the Zhang neurodynamics equivalency (ZNE) method, an acceleration-layer CA performance indicator is derived theoretically. To obtain a unified-layer inequality constraint by transforming from angle-layer and velocity-layer constraints to acceleration-layer constraints, five theorems and three corollaries are theoretically derived and rigorously proved. Then, together with the unified acceleration-layer bound constraint, an enhanced acceleration-layer CA scheme specially considering three-layer time-variant physical limits is proposed, and a simplified acceleration-layer CA scheme considering three-layer time-invariant physical limits is also proposed. The proposed CA schemes are finally formulated in the form of standard quadratic programming and are solved by a projection neurodynamics solver. Moreover, comparative simulative experiments based on a four-link planar arm and a UR3 spatial arm are performed to verify the efficacy and superiority of the proposed CA schemes. At last, physical experiments are conducted on a real Kinova Jaco2 arm to substantiate the practicability of the proposed CA schemes.

11.
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
12.
Talanta ; 279: 126558, 2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-39047630

RESUMEN

Although membrane technology has demonstrated outstanding pathogen removal capabilities, current commercial membranes are insufficient for removing small viruses at trace levels due to certain limitations. The theoretical and practical significance of developing a new form of hydrophilic, anti-fouling, and virus-specific ultra-purification membrane with high capturing and separation efficiency, stability, and throughput for water treatment is of the utmost importance. In this study, molecularly imprinted membranes (MIMs) were fabricated from polyvinylidene fluoride (PVDF) membranes utilizing novel surface hydrophilic modification techniques, followed by the immobilization of virus-specific molecularly imprinted nanoparticles (nanoMIPs) as synthetic receptors. Three distinct membrane functionalization strategies were established and optimized for the first time: membrane functionalization with (i) polyethyleneimine (PEI) and dopamine (DOP), (ii) PEI and 3-(chloropropyl)-trimethoxysilane (CTS), and (iii) chitosan (CS). Hydrophilicity was enhanced significantly as a result of these modification strategies. Additionally, the modifications enabled spacer arms between the membrane surface and the nanoMIPs to decrease steric hindrance. The surface chemistry, morphology, and membrane performance results from the characterization analysis of the MIMs demonstrated excellent hydrophilicity (e.g., the functionalized membrane presented 37.84° while the unmodified bare membrane exhibited 128.94° of water contact angle), higher permeation flux (145.96 L m-2 h-1 for the functionalized membrane), excellent uptake capacity (up to 99.99 % for PEI-DOP-MIM and CS-MIM), and recovery (more than 80 % for PEI-DOP-MIM). As proof of concept, the cutting-edge MIMs were able to eliminate the model adenoviruses up to 99.99 % from water. The findings indicate that the novel functionalized PVDF membranes hold promise for implementation in practical applications for virus capture and separation.

13.
Life (Basel) ; 14(6)2024 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-38929644

RESUMEN

Theoretical and experimental approaches have been applied to study the polymer physics underlying the compaction of DNA in the bacterial nucleoid. Knowledge of the compaction mechanism is necessary to obtain a mechanistic understanding of the segregation process of replicating chromosome arms (replichores) during the cell cycle. The first part of this review discusses light microscope observations demonstrating that the nucleoid has a lower refractive index and thus, a lower density than the cytoplasm. A polymer physics explanation for this phenomenon was given by a theory discussed at length in this review. By assuming a phase separation between the nucleoid and the cytoplasm and by imposing equal osmotic pressure and chemical potential between the two phases, a minimal energy situation is obtained, in which soluble proteins are depleted from the nucleoid, thus explaining its lower density. This theory is compared to recent views on DNA compaction that are based on the exclusion of polyribosomes from the nucleoid or on the transcriptional activity of the cell. These new views prompt the question of whether they can still explain the lower refractive index or density of the nucleoid. In the second part of this review, we discuss the question of how DNA segregation occurs in Escherichia coli in the absence of the so-called active ParABS system, which is present in the majority of bacteria. How is the entanglement of nascent chromosome arms generated at the origin in the parental DNA network of the E. coli nucleoid prevented? Microscopic observations of the position of fluorescently-labeled genetic loci have indicated that the four nascent chromosome arms synthesized in the initial replication bubble segregate to opposite halves of the sister nucleoids. This implies that extensive intermingling of daughter strands does not occur. Based on the hypothesis that leading and lagging replichores synthesized in the replication bubble fold into microdomains that do not intermingle, a passive four-excluding-arms model for segregation is proposed. This model suggests that the key for segregation already exists in the structure of the replication bubble at the very start of DNA replication; it explains the different patterns of chromosome arms as well as the segregation distances between replicated loci, as experimentally observed.

14.
Front Bioeng Biotechnol ; 12: 1388609, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38863490

RESUMEN

With the development of technology, the humanoid robot is no longer a concept, but a practical partner with the potential to assist people in industry, healthcare and other daily scenarios. The basis for the success of humanoid robots is not only their appearance, but more importantly their anthropomorphic behaviors, which is crucial for the human-robot interaction. Conventionally, robots are designed to follow meticulously calculated and planned trajectories, which typically rely on predefined algorithms and models, resulting in the inadaptability to unknown environments. Especially when faced with the increasing demand for personalized and customized services, predefined motion planning cannot be adapted in time to adapt to personal behavior. To solve this problem, anthropomorphic motion planning has become the focus of recent research with advances in biomechanics, neurophysiology, and exercise physiology which deepened the understanding of the body for generating and controlling movement. However, there is still no consensus on the criteria by which anthropomorphic motion is accurately generated and how to generate anthropomorphic motion. Although there are articles that provide an overview of anthropomorphic motion planning such as sampling-based, optimization-based, mimicry-based, and other methods, these methods differ only in the nature of the planning algorithms and have not yet been systematically discussed in terms of the basis for extracting upper limb motion characteristics. To better address the problem of anthropomorphic motion planning, the key milestones and most recent literature have been collated and summarized, and three crucial topics are proposed to achieve anthropomorphic motion, which are motion redundancy, motion variation, and motion coordination. The three characteristics are interrelated and interdependent, posing the challenge for anthropomorphic motion planning system. To provide some insights for the research on anthropomorphic motion planning, and improve the anthropomorphic motion ability, this article proposes a new taxonomy based on physiology, and a more complete system of anthropomorphic motion planning by providing a detailed overview of the existing methods and their contributions.

15.
Gene ; 927: 148704, 2024 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-38885821

RESUMEN

The current study sought to investigate the associations of common genetic risk variants with gestational diabetes mellitus (GDM) risk in the north Indian population and to evaluate their utility in identifying GDM cases. A case-control study, including 300 pregnant women, was included, and clinical and pathological information was collected. The amplification-refractory mutation system (ARMS) was used for genotyping four single nucleotide polymorphisms (SNPs), namely FTO (rs9939609), PPARG2 (rs1801282), SLC30A8 (rs13266634), and TCF7L2 (rs12255372). The odds ratio and confidence interval were determined for each SNP in different genetic models. Further, attributable risk, population penetrance, and relative risk were also calculated. The risk allele A of FTO (rs9939609) poses a two times higher risk of GDM (p = 0.02, OR = 2.5). The CG and GG genotypes of PPARG2 (rs1801282) have half a lower risk of GDM. In SLC30A8 (rs13266634), the recessive model analysis showed a two times higher risk of having GDM, while the recessive model (TT vs. GG + GT) analysis in TCF7L2 (rs12255372) indicates a lower risk of GDM. Finally, the relative risk, population penetrance, and attributable risk for risk allele in all four variants was higher in GDM mothers. All four polymorphisms were found to be significantly associated with BMI, HbA1c, and insulin. Our study first time confirmed a significant association with GDM for four variants, FTO, PPARG2, SLC30A8, and TCF7L2, in the North Indian population.


Asunto(s)
Diabetes Gestacional , Predisposición Genética a la Enfermedad , Insulina , Polimorfismo de Nucleótido Simple , Proteína 2 Similar al Factor de Transcripción 7 , Transportador 8 de Zinc , Humanos , Femenino , Diabetes Gestacional/genética , Embarazo , Adulto , Estudios de Casos y Controles , Proteína 2 Similar al Factor de Transcripción 7/genética , Insulina/metabolismo , Transportador 8 de Zinc/genética , Transportador 8 de Zinc/metabolismo , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , PPAR gamma/genética , India
16.
Proc Biol Sci ; 291(2024): 20240555, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38865605

RESUMEN

Evolutionary conflicts occur when there is antagonistic selection between different individuals of the same or different species, life stages or between levels of biological organization. Remarkably, conflicts can occur within species or within genomes. In the dynamics of evolutionary conflicts, gene duplications can play a major role because they can bring very specific changes to the genome: changes in protein dose, the generation of novel paralogues with different functions or expression patterns or the evolution of small antisense RNAs. As we describe here, by having those effects, gene duplication might spark evolutionary conflict or fuel arms race dynamics that takes place during conflicts. Interestingly, gene duplication can also contribute to the resolution of a within-locus evolutionary conflict by partitioning the functions of the gene that is under an evolutionary trade-off. In this review, we focus on intraspecific conflicts, including sexual conflict and illustrate the various roles of gene duplications with a compilation of examples. These examples reveal the level of complexity and the differences in the patterns of gene duplications within genomes under different conflicts. These examples also reveal the gene ontologies involved in conflict and the genomic location of the elements of the conflict. The examples provide a blueprint for the direct study of these conflicts or the exploration of the presence of similar conflicts in other lineages.


Asunto(s)
Duplicación de Gen , Evolución Molecular , Animales , Evolución Biológica , Selección Genética , Genoma
17.
Transl Lung Cancer Res ; 13(5): 986-997, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38854943

RESUMEN

Background: Amivantamab (JNJ-372) and mobocertinib (TAK-788) have been reported to have favorable therapeutic effect for non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) exon 20 insertion (ex20ins) mutations. Thus, accurate detection of EGFR ex20ins mutations is crucial for subsequent individualized therapy. The aim of this study was to compare the two common methods of next generation sequencing (NGS) and amplification refractory mutation system polymerase chain reaction (ARMS-PCR) for detecting EGFR ex20ins mutations in Chinese NSCLC patients. Methods: We retrospectively analyzed EGFR mutations, especially for ex20ins, in 3,606 NSCLC patients detected by NGS and 1,785 patients by ARMS. Results: Among the 3,606 NGS patients, a total of 2,077 EGFR mutations and 95 EGFR ex20ins were identified, accounting for 57.6% and 2.6%, respectively. While 48.4% of EGFR mutations and 1.1% of ex20ins were detected in 1,785 ARMS patients, which were significantly lower than those of NGS (P<0.01). Thirty-four unique ex20ins variants were identified by NGS, and eight of them was reported for the first time. However, ARMS was designed to detect only several known EGFR ex20ins variants, and even did not include the most common variants in Chinese NSCLC patients. Conclusions: NGS is more advantageous and strongly recommended for the detection of EGFR ex20ins mutations. Considering the fast and cost-effective ARMS detection method, it is suggested that the primers design should be updated according to the characteristics of EGFR ex20ins mutations in Chinese NSCLC patients.

18.
Rheumatol Int ; 2024 Jun 11.
Artículo en Inglés | MEDLINE | ID: mdl-38860993

RESUMEN

As the global population of older persons increases, age-related medical conditions will have a greater impact on public health. DXA-derived bone and soft tissue metrics are associated with adverse clinical events in aging persons. This study aims to investigate the regional body composition of the appendices by whole-body DXA scans, and the age-related relationships between measures of bone and soft tissue in healthy Caucasian females of a Greek origin residing in the Mediterranean area. Body composition of the legs and the arms was analyzed, and lean mass (LM) and fat mass (FM) metrics were calculated in 330 women aged 20-85 years, using DXA. Peak bone mineral density (BMD) of the legs and arms was achieved between ages 20-30 and 41-50 years, respectively. The overall BMD reduction with age was for the legs 43% and the arms 32.2% (p < 0.001). Peak %LM of the legs and the arms was achieved between ages 20-30. The overall reduction of %LM with age was for the legs 22.5% (p < 0.001) and arms 6.6% (p < 0.05). Peak %FM of the legs and arms was attained between ages 31-40 and 61-70, respectively. The overall %FM reduction with age was for the legs and arms 7.5% and 1.9% (p > 0.05). In appendicular sites, Greek women reach peak values of bone mass in the legs first, in early adulthood. Bone loss predominates in the legs as women age. Also, with advancing age Greek women show preferential significant decreases of %LM and %FM in the legs as opposed to the arms. Although variation in appendicular bone and soft tissue metrics is present, the implications of variable biological crosstalks among the tissue components as women age may ultimately lay the foundation for future clinical trials aimed at healthy aging.

19.
Front Oncol ; 14: 1340865, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38835374

RESUMEN

Rhabdomyosarcoma (RMS) is a common soft tissue malignant tumor, especially in young patients. Alveolar rhabdomyosarcoma (ARMS) is a subtype of RMS that is prevalent in adolescents. This malignant tumor usually develops in the extremities and can also involve the trunk, perineum, and pelvis. Now, we report a rare case of pelvic lymph node metastatic alveolar RMS in a young patient, which was determined by fine needle aspiration cytology (FNAC). To the best of our knowledge, this is the first case in which the definite diagnosis of ARMS was initially made by FNAC.

20.
J Neural Eng ; 21(4)2024 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-38914073

RESUMEN

Objective.Can we classify movement execution and inhibition from hippocampal oscillations during arm-reaching tasks? Traditionally associated with memory encoding, spatial navigation, and motor sequence consolidation, the hippocampus has come under scrutiny for its potential role in movement processing. Stereotactic electroencephalography (SEEG) has provided a unique opportunity to study the neurophysiology of the human hippocampus during motor tasks. In this study, we assess the accuracy of discriminant functions, in combination with principal component analysis (PCA), in classifying between 'Go' and 'No-go' trials in a Go/No-go arm-reaching task.Approach.Our approach centers on capturing the modulation of beta-band (13-30 Hz) power from multiple SEEG contacts in the hippocampus and minimizing the dimensional complexity of channels and frequency bins. This study utilizes SEEG data from the human hippocampus of 10 participants diagnosed with epilepsy. Spectral power was computed during a 'center-out' Go/No-go arm-reaching task, where participants reached or withheld their hand based on a colored cue. PCA was used to reduce data dimension and isolate the highest-variance components within the beta band. The Silhouette score was employed to measure the quality of clustering between 'Go' and 'No-go' trials. The accuracy of five different discriminant functions was evaluated using cross-validation.Main results.The Diagonal-Quadratic model performed best of the 5 classification models, exhibiting the lowest error rate in all participants (median: 9.91%, average: 14.67%). PCA showed that the first two principal components collectively accounted for 54.83% of the total variance explained on average across all participants, ranging from 36.92% to 81.25% among participants.Significance.This study shows that PCA paired with a Diagonal-Quadratic model can be an effective method for classifying between Go/No-go trials from beta-band power in the hippocampus during arm-reaching responses. This emphasizes the significance of hippocampal beta-power modulation in motor control, unveiling its potential implications for brain-computer interface applications.


Asunto(s)
Brazo , Ritmo beta , Hipocampo , Humanos , Hipocampo/fisiología , Femenino , Ritmo beta/fisiología , Masculino , Adulto , Brazo/fisiología , Desempeño Psicomotor/fisiología , Movimiento/fisiología , Electroencefalografía/métodos , Electroencefalografía/clasificación , Análisis de Componente Principal , Adulto Joven , Reproducibilidad de los Resultados , Persona de Mediana Edad
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