Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 342
Filtrar
1.
Psychol Res Behav Manag ; 17: 3101-3109, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39247071

RESUMO

Purpose: Growth mindset and self-control, both recognized as pivotal qualities with significant impacts on personal success, possess respective robust predictive power for academic achievement and broader life outcomes. However, the bidirectional relationship between them remains largely unexplored. This study aims to investigate whether growth mindset, conceptualized as the belief that abilities can be developed through effort and support, prospectively predicts the development of self-control over time. Additionally, it endeavors to explore whether self-control, a crucial positive psychological trait, exerts an influence on the fostering of growth mindset. In summary, our research focuses on elucidating the bidirectional relationship between growth mindset and self-control among Chinese primary school students. Participants and Methods: The current research recruited a sample of 428 primary school students, aged 9-12, from China (214 females, mean age = 9.64 ± 1.21) to participate in a longitudinal study. Participants underwent two follow-up assessments of growth mindset and self-control over a six-month period. Results: The correlation analysis revealed significant associations between growth mindset at T1 and self-control at T2, as well as between self-control at T1 and growth mindset at T2(r = 0.23 to 0.25, ps < 0.01). Cross-lagged analysis found that growth mindset at T1 positively predicted self-control at T2 (ß = 0.11, p = 0.04), while self-control at T1 did not significantly predict growth mindset at T2. Conclusion: The results suggest that growth mindset exerts a direct impact on self-control among primary school students. This finding extends the scope of research concerning growth mindset and provides important theoretical inspiration and practical guidance for educators, parents and counselling professionals in assisting students to enhance self-control.

2.
Korean J Pain ; 37(4): 343-353, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39344361

RESUMO

Background: This study aimed to compare the intercostal nerve block (ICNB) and thoracic paravertebral block (TPVB) for acute herpes zoster-associated pain (ZAP) and possible prophylaxis for post-herpetic neuralgia (PHN). Methods: This study enrolled 128 patients with ZAP. Their records were stratified into standard antiviral treatment (AVT) plus US-guided TPVB (the TPVB group), AVT plus US-guided ICNB (the ICNB group) or AVT alone (the control group). Herpes zoster (HZ)-related burden of illness (HZ-BOI) within the post-procedural 30 days was defined as the primary endpoint, determined by a composite of pain severity and follow-up duration. Procedure time, rescue analgesic requirement, PHN incidence, health-related quality of life and side effects were also recorded. Results: Significantly lower HZ-BOI-AUC30 was reported in the TPVB and ICNB groups as compared to the control group, with a mean difference of 57.5 (P < 0.001) and 40.3 (P = 0.003), respectively. However, there was no difference between the TPVB and ICNB groups (P = 0.978). Both TPVB and ICNB reported significantly greater improvements in PHN incidence, EQ-5D-3L scores and rescue analgesic requirements during follow-up, as opposed to the control AVT. Shorter procedure time was observed in ICNB as compared to TPVB (16.47 ± 3.39 vs. 11.69 ± 2.58, P < 0.001). Conclusions: Both US-guided TPVBs and ICNBs were effective for ZAP, and accounted for possible prophylaxis for PHN, as compared to AVT alone. The ICNB approach could be recommended as an alternative to conventional TPVB with a better consumed procedure time and side effect profile.a.

3.
Int J Cancer ; 2024 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-39305480

RESUMO

Liver cancer causes upwards of 1 million cancer deaths annually and is projected to rise by at least 55% over the next 15 years. Two of the major risk factors contributing to liver cancer have been well documented by multiple epidemiologic studies and the hepatitis B virus (HBV) and aflatoxin show a synergy that increases by more than 8-fold the risk of liver cancer relative to HBV alone. Using the population-based cancer registry established by the Qidong Liver Cancer Institute in 1972 and aflatoxin-specific biomarkers, we document that reduction of aflatoxin exposure has likely contributed to a nearly 70% decline in age-standardized liver cancer incidence over the past 30 years despite an unchanging prevalence of HBV infection in cases. A natural experiment of economic reform in the 1980s drove a rapid switch from consumption of heavily contaminated corn to minimally, if any, contaminated rice and subsequent dietary diversity. Aflatoxin consumption appears to accelerate the time to liver cancer diagnosis; lowering exposure to this carcinogen adds years of life before a cancer diagnosis. Thus, in 1990 the median age of diagnosis was 48 years, while increasing to 67 years by 2021. These findings have important translational public health implications since up to 5 billion people worldwide might be routinely exposed to dietary aflatoxin, especially in societies using corn as the staple food. Interventions against aflatoxin are an achievable outcome leading to a reduction in liver cancer incidence and years of delay of its nearly always fatal diagnosis.

4.
Aging Dis ; 2024 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-39325935

RESUMO

Across mammals, lifespans vary remarkably, spanning over a hundredfold difference. Comparative studies consistently reveal a strong inverse relationship between developmental pace and lifespan, hinting at the potential for early-life interventions (ELIs) to influence aging and lifespan trajectories. Focusing on postnatal interventions in mice, this review explores how ELIs influence development, lifespan, and the underlying mechanisms. Previous ELI studies have employed a diverse array of approaches, including dietary modifications, manipulations of the somatotropic axis, and various chemical treatments. Notably, these interventions have demonstrated significant impacts on aging and lifespan in mice. The underlying mechanisms likely involve pathways related to mitochondrial function, mTOR and AMPK signaling, cellular senescence, and epigenetic alterations. Interestingly, ELI studies may serve as valuable models for investigating the complex regulatory mechanisms of development and aging, particularly regarding the interplay among somatic growth, sexual maturation, and lifespan. In addition, prior research has highlighted the intricacies of experimental design and data interpretation. Factors such as timing, sex-specific effects, administration methods, and animal husbandry practices must be carefully considered to ensure the reliability and reproducibility of results, as well as rigorous interpretation. Addressing these factors is essential for advancing our understanding of how development, aging, and lifespan are regulated, potentially opening avenues for interventions that promote healthy aging.

5.
Diagnostics (Basel) ; 14(16)2024 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-39202303

RESUMO

Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were found in 22 individuals, with missense (26.1%), nonsense (21.7%), and frameshift (17.4%) variants being the most prevalent. One patient had a KMT2D variant of uncertain significance. The most common clinical characteristics included distinct facial features (100%), intellectual disability (100%), developmental delay (95.7%), speech delay (78.3%), hypotonia (69.6%), congenital heart abnormalities (69.6%), and recurrent infections (65.2%). Other abnormalities included hearing loss (39.1%), seizures (26.1%), cleft palate (26.1%), and renal anomalies (21.7%). This study broadens the mutational and phenotypic spectrum of KS in the Taiwanese population, highlighting the importance of comprehensive genetic testing and multidisciplinary clinical evaluations for diagnosis and treatment.

6.
Cell Commun Signal ; 22(1): 418, 2024 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-39192326

RESUMO

Respiratory diseases are a growing concern in public health because of their potential to endanger the global community. Cell death contributes critically to the pathophysiology of respiratory diseases. Recent evidence indicates that necroptosis, a unique form of programmed cell death (PCD), plays a vital role in the molecular mechanisms underlying respiratory diseases, distinguishing it from apoptosis and conventional necrosis. Necroptosis is a type of inflammatory cell death governed by receptor-interacting serine/threonine protein kinase 1 (RIPK1), RIPK3, and mixed-lineage kinase domain-like protein (MLKL), resulting in the release of intracellular contents and inflammatory factors capable of initiating an inflammatory response in adjacent tissues. These necroinflammatory conditions can result in significant organ dysfunction and long-lasting tissue damage within the lungs. Despite evidence linking necroptosis to various respiratory diseases, there are currently no specific alternative treatments that target this mechanism. This review provides a comprehensive overview of the most recent advancements in understanding the significance and mechanisms of necroptosis. Specifically, this review emphasizes the intricate association between necroptosis and respiratory diseases, highlighting the potential use of necroptosis as an innovative therapeutic approach for treating these conditions.


Assuntos
Necroptose , Humanos , Animais , Doenças Respiratórias/patologia , Doenças Respiratórias/metabolismo , Proteína Serina-Treonina Quinases de Interação com Receptores/metabolismo , Necrose
7.
Cell Biol Toxicol ; 40(1): 63, 2024 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-39093513

RESUMO

Anesthetic-induced developmental neurotoxicity (AIDN) can arise due to various factors, among which aberrant nerve cell death is a prominent risk factor. Animal studies have reported that repeated or prolonged anesthetic exposure can cause significant neuroapoptosis in the developing brain. Lately, non-apoptotic programmed cell deaths (PCDs), characterized by inflammation and oxidative stress, have gained increasing attention. Substantial evidence suggests that non-apoptotic PCDs are essential for neuronal cell death in AIDN compared to apoptosis. This article examines relevant publications in the PubMed database until April 2024. Only original articles in English that investigated the potential manifestations of non-apoptotic PCD in AIDN were analysed. Specifically, it investigates necroptosis, pyroptosis, ferroptosis, and parthanatos, elucidating the signaling mechanisms associated with each form. Furthermore, this study explores the potential relevance of these non-apoptotic PCDs pathways to the pathological mechanisms underlying AIDN, drawing upon their distinctive characteristics. Despite the considerable challenges involved in translating fundamental scientific knowledge into clinical therapeutic interventions, this comprehensive review offers a theoretical foundation for developing innovative preventive and treatment strategies targeting non-apoptotic PCDs in the context of AIDN.


Assuntos
Anestésicos , Apoptose , Síndromes Neurotóxicas , Humanos , Síndromes Neurotóxicas/patologia , Síndromes Neurotóxicas/etiologia , Animais , Anestésicos/efeitos adversos , Anestésicos/toxicidade , Anestésicos/farmacologia , Apoptose/efeitos dos fármacos , Neurônios/efeitos dos fármacos , Neurônios/patologia , Neurônios/metabolismo , Piroptose/efeitos dos fármacos , Estresse Oxidativo/efeitos dos fármacos , Necroptose/efeitos dos fármacos , Encéfalo/efeitos dos fármacos , Encéfalo/patologia , Encéfalo/crescimento & desenvolvimento , Ferroptose/efeitos dos fármacos , Transdução de Sinais/efeitos dos fármacos
8.
MycoKeys ; 106: 225-250, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38974461

RESUMO

Botryosphaeriales species are important pathogens that have worldwide distribution. In this study, 23 Botryosphaeriales strains were isolated from 13 host species during a dieback disease survey in Beijing, China. Based on morphological and phylogenetic analyses, six Botryosphaeriales species were identified, including two new species named Dothiorellahortiarborum sp. nov. and Phaeobotryonfraxini sp. nov., and four new host records: Aplosporellaginkgonis from Cotinuscoggygriavar.cinereus, A.javeedii from Acermiyabei, Acertruncatum, Forsythiasuspensa, Lagerstroemiaindica, Sambucuswilliamsii, Syringavulgaris, Ulmuspumila, Xanthocerassorbifolium, A.yanqingensis from Acertruncatum, and Do.acericola from Forsythiasuspensa, Ginkgobiloba, and Syringaoblata. This study enriches the species diversity associated with tree dieback in Beijing, China, and contributes to the further study of the taxonomy of this order.

9.
Scand J Pain ; 24(1)2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38981512

RESUMO

OBJECTIVES: Ultrasound (US)-guided intercostal nerve block (ICNB) is an easier approach with a very low incidence of complications for different surgeries; nevertheless, only a few studies estimate the effect of ICNB for acute HZ. To explore the US-guided ICNB for management of herpes zoster (HZ)-related acute pain and possible prophylaxis for post-herpetic neuralgia (PHN) taking the conventional thoracic paraverteral block (TPVB) as control. METHODS: A total of 128 patients with HZ were retrospectively stratified into antiviral treatment (AVT) plus US-guided TPVB (TPVB group), AVT plus US-guided ICNB (ICNB group) or AVT alone (control group) based on the treatment they received. HZ-related illness burden (HZ-BOI) over 30 days after inclusion as the primary endpoint was determined by a severity-by-duration composite pain assessment. Rescue analgesic requirement, health-related quality of life, PHN incidence, and adverse events were also recorded. RESULTS: Significantly lower HZ-BOI scores within post-procedural 30 days using the area under the curve were reported with TPVB and ICNB compared with the control group: mean difference of 57.5 (p < 0.001) and 40.3 (p = 0.003). No difference was reported between TPVB and ICNB (p = 1.01). Significant greater improvements in PHN incidence, EQ-5D-3L scores, and rescue analgesic requirements were observed during follow-up favoring two trial groups, while comparable between two trial groups. No serious adverse events were observed. CONCLUSIONS: US-guided ICNBs were as effective as TPVBs for acute HZ. The ICNB technique was an easier and time-efficient approach as opposed to conventional TPVB, which might be encouraged as a more accessible preemptive mean for preventing PHN.


Assuntos
Herpes Zoster , Nervos Intercostais , Bloqueio Nervoso , Neuralgia Pós-Herpética , Ultrassonografia de Intervenção , Humanos , Neuralgia Pós-Herpética/prevenção & controle , Feminino , Masculino , Estudos Retrospectivos , Herpes Zoster/complicações , Herpes Zoster/prevenção & controle , Bloqueio Nervoso/métodos , Ultrassonografia de Intervenção/métodos , Idoso , Estudos de Casos e Controles , Pessoa de Meia-Idade , Nervos Intercostais/efeitos dos fármacos , Medição da Dor
10.
Chin J Integr Med ; 30(10): 938-948, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38958884

RESUMO

Hypertensive renal damage (HRD) is a major cause of end-stage renal disease. Among the causes of end-stage renal disease, HRD accounts for nearly 34% of the total number of cases. Antihypertensive treatment is primarily drug-based, but therapeutic efficacy is less effective and can have serious side effects. Chinese medicine (CM) has significant advantages in the treatment of HRD. CM is rich in various active ingredients and has the property of targeting multiple targets and channels. Therefore, the regulatory network of CM on disease is complex. A large number of CM have been employed to treat HRD, either as single applications or as part of compound formulations. The key possible mechanisms of CM for HRD include regulation of the renin-angiotensin-aldosterone system, antioxidation, anti-inflammation, rescue of endothelial function, regulation of vasoactive substance secretion and obesity-related factors, etc. This review summarized and discussed the recent advance in the basic research mechanisms of CM interventions for HRD and pointed out the challenges and future prospects.


Assuntos
Medicina Tradicional Chinesa , Humanos , Medicamentos de Ervas Chinesas/uso terapêutico , Medicamentos de Ervas Chinesas/farmacologia , Sistema Renina-Angiotensina/efeitos dos fármacos , Hipertensão Renal/tratamento farmacológico , Hipertensão/tratamento farmacológico , Animais , Nefrite
11.
Opt Express ; 32(9): 15269-15279, 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38859182

RESUMO

Telescopes play an essential important role in the fields of astronomical observation, emergency rescue, etc. The traditional telescopes achieve zoom function through the mechanical movement of the solid lenses, usually requiring refocusing after magnification adjustment. Therefore, the traditional telescopes lack adaptability, port-ability and real-time capability. In this paper, a continuous optical zoom telescopic system based on liquid lenses is proposed. The main components of the system consist of an objective lens, an eyepiece, and a zoom group composed of six pieces of liquid lenses. By adjusting the external voltages on the liquid lenses, the zoom telescopic system can achieve continuous optical zoom from ∼1.0× to ∼4.0× operating with an angular resolution from 28.648" to 19.098", and the magnification switching time is ∼50ms. The optical structure of the zoom telescopic system with excellent performance is given, and its feasibility is demonstrated by simulations and experiments. The proposed system with fast response, portability and high adaptability is expected to be applied to astronomical observation, emergency rescue and so on.

12.
Ren Fail ; 46(2): 2359033, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38836372

RESUMO

OBJECTIVE: To determine the efficacy and safety of Astragalus combined with renin-angiotensin-aldosterone system (RAAS) blockers in treating stage III diabetic nephropathy (DN) by meta-analysis. METHODS: PubMed, Embase, Cochrane Library, Wiley, and Web of Science databases were searched for articles published between August 2007 and August 2022. Clinical studies on Astragalus combined with RAAS blockers for the treatment of stage III DN were included. Meta-analysis was performed by RevMan 5.1 and Stata 14.3 software. RESULTS: A total of 32 papers were included in this meta-analysis, containing 2462 patients from randomized controlled trials, with 1244 receiving the combination treatment and 1218 solely receiving RAAS blockers. Astragalus combined with RAAS blockers yielded a significantly higher total effective rate (TER) (mean difference [MD] 3.63, 95% confidence interval [CI] 2.59-5.09) and significantly reduced urinary protein excretion rate (UPER), serum creatinine (Scr), blood urine nitrogen (BUN) and glycosylated hemoglobin (HbAlc) levels. In subgroup analysis, combining astragalus and angiotensin receptor blocker significantly lowered fasting plasma glucose (FPG) and 24 h urinary protein (24hUTP) levels, compared with the combined astragalus and angiotensin-converting enzyme inhibitor treatment. Meanwhile, the latter significantly decreased the urinary microprotein (ß2-MG). Importantly, the sensitivity analysis confirmed the study's stability, and publication bias was not detected for UPER, BUN, HbAlc, FPG, or ß2-MG. However, the TER, SCr, and 24hUTP results suggested possible publication bias. CONCLUSIONS: The astragalus-RAAS blocker combination treatment is safe and improves outcomes; however, rigorous randomized, large-scale, multi-center, double-blind trials are needed to evaluate its efficacy and safety in stage III DN.


Renin-angiotensin-aldosterone system (RAAS) inhibitors are commonly used to treat diabetic neuropathy (DN) and Astragalus membranaceus components are known to improve DN symptoms.We aimed to establish the efficacy and safety of using Astragalus combined with RAAS inhibitors.Astragalus combined with RAAS inhibitors enhances the total effective rate of diabetic neuropathy response to treatment and reduces urinary protein excretion rate, serum creatinine, blood urea nitrogen and HbAlc.Sensitivity analysis affirms study stability, while publication bias was detected for total effective rate, serum creatinine, and 24 h urinary protein levels.


Assuntos
Antagonistas de Receptores de Angiotensina , Inibidores da Enzima Conversora de Angiotensina , Nefropatias Diabéticas , Quimioterapia Combinada , Sistema Renina-Angiotensina , Humanos , Nefropatias Diabéticas/tratamento farmacológico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Sistema Renina-Angiotensina/efeitos dos fármacos , Antagonistas de Receptores de Angiotensina/uso terapêutico , Astrágalo , Ensaios Clínicos Controlados Aleatórios como Assunto , Medicamentos de Ervas Chinesas/uso terapêutico , Medicamentos de Ervas Chinesas/administração & dosagem , Resultado do Tratamento , Creatinina/sangue , Hemoglobinas Glicadas , Proteinúria/tratamento farmacológico
13.
J Transl Med ; 22(1): 569, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38877534

RESUMO

Cancer remains a leading cause of mortality and poses a substantial threat to public health. Studies have revealed that Long noncoding RNA DANCR is a cytoplasmic lncRNA whose aberrant expression plays a pivotal role in various cancer types. Within tumour biology, DANCR exerts regulatory control over crucial processes such as proliferation, invasion, metastasis, angiogenesis, inflammatory responses, cellular energy metabolism reprogramming, and apoptosis. By acting as a competitive endogenous RNA for miRNAs and by interacting with proteins and mRNAs at the molecular level, DANCR contributes significantly to cancer progression. Elevated DANCR levels have also been linked to heightened resistance to anticancer drugs. Moreover, the detection of circulating DANCR holds promise as a valuable biomarker for aiding in the clinical differentiation of different cancer types. This article offers a comprehensive review and elucidation of the primary functions and molecular mechanisms through which DANCR influences tumours.


Assuntos
Regulação Neoplásica da Expressão Gênica , Neoplasias , RNA Longo não Codificante , Humanos , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Neoplasias/genética , Neoplasias/patologia , Neoplasias/metabolismo , Animais
14.
Aging Cell ; : e14227, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38798180

RESUMO

Recent studies have demonstrated the remarkable potential of early life intervention strategies at influencing the course of postnatal development, thereby offering exciting possibilities for enhancing longevity and improving overall health. Metformin (MF), an FDA-approved medication for type II diabetes mellitus, has recently gained attention for its promising anti-aging properties, acting as a calorie restriction mimetic, and delaying precocious puberty. Additionally, trodusquemine (MSI-1436), an investigational drug, has been shown to combat obesity and metabolic disorders by inhibiting the enzyme protein tyrosine phosphatase 1b (Ptp1b), consequently reducing hepatic lipogenesis and counteracting insulin and leptin resistance. In this study, we aimed to further explore the effects of these compounds on young, developing mice to uncover biomolecular signatures that are central to liver metabolic processes. We found that MSI-1436 more potently alters mRNA and miRNA expression in the liver compared with MF, with bioinformatic analysis suggesting that cohorts of differentially expressed miRNAs inhibit the action of phosphoinositide 3-kinase (Pi3k), protein kinase B (Akt), and mammalian target of rapamycin (Mtor) to regulate the downstream processes of de novo lipogenesis, fatty acid oxidation, very-low-density lipoprotein transport, and cholesterol biosynthesis and efflux. In summary, our study demonstrates that administering these compounds during the postnatal window metabolically reprograms the liver through induction of potent epigenetic changes in the transcriptome, potentially forestalling the onset of age-related diseases and enhancing longevity. Future studies are necessary to determine the impacts on lifespan and overall quality of life.

15.
Geriatr Nurs ; 58: 162-170, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38815538

RESUMO

This study aimed to identify barriers and facilitators to older adults' acceptance of socially assistive robots from a stakeholder perspective. We enlisted 36 distinct stakeholders, including older adult, nurses, retirement home managers, and employees from robotics companies. Data collection was conducted through semi-structured interviews. The research findings were mapped onto the Capability, Opportunity, Motivation-Behavior (COM-B) model. We obtained a total of 14 facilitators and barriers. (1) Capability: High technological familiarity (Facilitator); insufficient technical experience and low level of education (Barriers). (2) Motivation: Strong interest in new things, perceived convenience usefulness, and emotional support (Facilitators); concerns about technical reliability, perceived lack of ease of use, inability to establish emotional connection, and low level of need (Barriers). (3) Opportunity: Insufficient policy support and economic capacity, robotics technical problems (Barriers). Collaborative efforts among stakeholders are vital for fostering an environment conducive to socially assistive robot adoption, maximizing its potential to improve older adults' well-being.


Assuntos
Motivação , Pesquisa Qualitativa , Robótica , Tecnologia Assistiva , Humanos , Masculino , Feminino , Idoso , Participação dos Interessados/psicologia , Pessoa de Meia-Idade , Entrevistas como Assunto
16.
Front Genet ; 15: 1365729, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38818036

RESUMO

Background: Muscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity. Methods: This study aimed to investigate the use of whole exome sequencing (WES) in diagnosing muscular disorders in pediatric patients in Taiwan. Out of 161 pediatric patients suspected to have genetic/inherited myopathies, 115 received a molecular diagnosis through conventional tests, single gene testing, and gene panels. The remaining 46 patients were divided into three groups: Group 1 (multiplex ligation-dependent probe amplification-negative Duchenne muscular dystrophy) with three patients (6.5%), Group 2 (various forms of muscular dystrophies) with 21 patients (45.7%), and Group 3 (congenital myopathies) with 22 patients (47.8%). Results: WES analysis of these groups found pathogenic variants in 100.0% (3/3), 57.1% (12/21), and 68.2% (15/22) of patients in Groups 1 to 3, respectively. WES had a diagnostic yield of 65.2% (30 patients out of 46), detecting 30 pathogenic or potentially pathogenic variants across 28 genes. Conclusion: WES enables the diagnosis of rare diseases with symptoms and characteristics similar to congenital myopathies and muscular dystrophies, such as muscle weakness. Consequently, this approach facilitates targeted therapy implementation and appropriate genetic counseling.

17.
Int J Biol Macromol ; 270(Pt 1): 131796, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38677688

RESUMO

As a country with abundant genetic resources of pigs, the domestication history of pigs in China and the adaptive evolution of Chinese pig breeds at different latitudes have rarely been elucidated at the genome-wide level. To fill this gap, we first assembled a high-quality chromosome-level genome of the Chenghua pig and used it as a benchmark to analyse the genomes of 272 samples from three genera of three continents. The divergence of the three species belonging to three genera, Phacochoerus africanus, Potamochoerus porcus, and Sus scrofa, was assessed. The introgression of pig breeds redefined that the migration routes were basically from southern China to central and southwestern China, then spread to eastern China, arrived in northern China, and finally reached Europe. The domestication of pigs in China occurred ∼12,000 years ago, earlier than the available Chinese archaeological domestication evidence. In addition, FBN1 and NR6A1 were identified in our study as candidate genes related to extreme skin thickness differences in Eurasian pig breeds and adaptive evolution at different latitudes in Chinese pig breeds, respectively. Our study provides a new resource for the pig genomic pool and refines our understanding of pig genetic diversity, domestication, migration, and adaptive evolution at different latitudes.


Assuntos
Domesticação , Genoma , Animais , Suínos/genética , Genoma/genética , China , Adaptação Fisiológica/genética , Sus scrofa/genética , Filogenia , Cruzamento , Variação Genética , Evolução Molecular
18.
Urolithiasis ; 52(1): 64, 2024 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-38613668

RESUMO

Radiomics and machine learning have been extensively utilized in the realm of urinary stones, particularly in forecasting stone treatment outcomes. The objective of this study was to integrate clinical variables and radiomic features to develop a machine learning model for predicting the stone-free rate (SFR) following percutaneous nephrolithotomy (PCNL). A total of 212 eligible patients who underwent PCNL surgery at the Second Affiliated Hospital of Nanchang University were included in a retrospective analysis. Preoperative clinical variables and non-contrast-enhanced CT images of all patients were collected, and radiomic features were extracted after delineating the stone ROI. Univariate analysis was conducted to identify clinical variables strongly correlated with the stone-free rate after PCNL, and the least absolute shrinkage and selection operator algorithm (lasso regression) was utilized to screen radiomic features. Four supervised machine learning algorithms, including Logistic Regression, Random Forest (RF), Extreme Gradient Boosting (XGBoost), and Gradient Boosting Decision Tree (GBDT), were employed. The clinical variables with strong correlation and screened radiomic features were integrated into the four machine learning algorithms to construct a prediction model, and the receiver operating curve was plotted. The area under the receiver operating curve (AUC), the accuracy rate, the specificity, etc., were used to evaluate the predictive performance of the four models. After analyzing postoperative statistics, the stone-free rate following the procedure was found to be 70.3% (n = 149). Among the various clinical variables examined, factors, such as stone number, stone diameter, stone CT value, stone location, and history of stone surgery, were identified as statistically significant in relation to the stone-free rate after PCNL. A total of 121 radiomic features were extracted, and through lasso regression, 7 features most closely associated with the stone-free rate post-PCNL were identified. The predictive accuracy of different models (Logistic Regression, RF, XGBoost, and GBDT) for determining the stone-free rate after PCNL was evaluated, yielding accuracies of 78.1%, 76.6%, 75.0%, and 73.4%, respectively. The corresponding area under the curve AUC (95%CI) were 0.85 (0.83-0.89), 0.81 (0.76-0.85), 0.82 (0.78-0.85), and 0.77 (0.73-0.81), positioning these models among the top performers in logistic regression prediction. In terms of predictive importance scores, the key factors identified by the logistic regression model were number of stone, zone percentage, stone diameter, and surface area. Similarly, the RF model highlighted number of stone, stone CT value, stone diameter, and surface area as the top predictors. Among the four machine learning models, the logistic regression model demonstrated the highest accuracy and discrimination ability in predicting the stone-free rate following PCNL. In comparison to XGBoost and GBDT, RF also exhibited superior accuracy and a certain level of discrimination ability. However, based on the performance of all four models, logistic regression is more likely to aid in clinical decision-making by assisting clinicians in diagnosing PCNL in patients. This enables us to effectively predict the presence of residual stones post-surgery and ultimately select patients who are suitable candidates for PCNL.


Assuntos
Nefrolitotomia Percutânea , Cálculos Urinários , Humanos , Radiômica , Estudos Retrospectivos , Aprendizado de Máquina
19.
Diagnostics (Basel) ; 14(8)2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38667491

RESUMO

Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the KMT2D gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic KMT2D variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype-phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with KMT2D mutations are left-sided obstructive lesions and septal defects.

20.
Environ Sci Technol ; 58(18): 7838-7848, 2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38656157

RESUMO

Large volumes of water are used in energy production for both primary (e.g., fuel extraction) and secondary energy (e.g., electricity). In countries such as China, with a large internal trade in fuels and long-distance transmission grids, this can result in considerable water inequalities. Previous research focused on the water impacts of energy production at the national and provincial levels, which is too coarse to identify the spatial differences and make specific case studies. Here, we take the next step toward a spatially explicit economically integrated water-use for energy assessment by combining a bottom-up assessment approach with a city-level multiregional input-output model. Specifically, we examine the water consumption of energy production in China, distinguishing between water for primary and secondary energy at the level of coal mines, oil and gas fields, and power plants for the first time. Of the total energy-related freshwater consumption of 4.9 Gm3 in 2017, primary energy accounted for 19% (940 Mm3) and secondary energy accounted for 81% (3955 Mm3). Coal was the largest water consumer for both primary and secondary energy (540 and 3880 Mm3, respectively), with both oil (361, and 0.5 Mm3, respectively) and gas (7 and 69 Mm3, respectively) also consuming large amounts. Intercity virtual water, that is, water embodied in energy trade across cities, reached 54% (2.6 Gm3) of energy-related freshwater consumption. Across China, 32% of cities see a bilateral trade in secondary- and primary-energy-related virtual water (e.g., Daqing city exports virtual water embodied in primary fuel to other cities that is then used to produce electricity in those cities, part of which is used back in Daqing via transmission). For these 32% of cities, 73% export more virtual water than import and 27% import more virtual water than export. This study reveals significant differences in city-level virtual water patterns (e.g., scale and direction) between primary and secondary energy to provide information for cities about their virtual water inflow and outflow and the potential collaboration partners for water management.


Assuntos
Cidades , China , Centrais Elétricas , Água
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA