Search Results (3,186)

Recent developments in next-generation sequencing technology have led to the creation of extensive, open-source protein databases consisting of hundreds of millions of sequences. To render these sequences applicable in biomedical applications, they must be meticulously annotated by wet lab testing or extracting them from existing literature. Over the last few years, researchers have developed numerous automatic annotation systems, particularly deep learning models based on machine learning and artificial intelligence, to address this issue. In this work, we propose a transformer-based fusion model capable of predicting Gene Ontology (GO) terms from full-scale protein sequences, achieving state-of-the-art accuracy compared to other contemporary machine learning annotation systems. The approach performs particularly well on clustered split datasets, which comprise training and testing samples originating from distinct distributions that are structurally diverse. This demonstrates that the model is able to understand both short and long term dependencies within the protein’s structure and can capture sequence features that are predictive of the various GO terms. Furthermore, the technique is lightweight and less computationally expensive compared to the benchmark methods, while at the same time unaffected by sequence length, rendering it appropriate for diverse applications with varying sequence lengths. Full article

Background: Patients with adolescent idiopathic scoliosis (AIS) require effective bracing to control curve progression. However, most traditional spinal braces commonly pose challenges in terms of undesired bulkiness and restricted mobility. Recent advancements have focused on innovative brace designs, utilizing novel materials and structural configurations to improve wearability and functionality. However, it remains unclear how effective these next-generation braces are biomechanically compared to traditional braces. Objectives: This review aimed to analyze the design features of next-generation AIS braces and assess their biomechanical effectiveness via reviewing contemporary studies. Methods: Studies on newly designed scoliosis braces over the past decade were searched in databases, including Web of Science, PubMed, ScienceDirect, Wiley, EBCOHost and SpringerLink. The Joanna Briggs Institute Critical Appraisal Checklist for Cohort Studies was adopted to evaluate the quality of the included studies. The data extracted for biomechanical effect analysis included brace components/materials, design principle, interfacial pressure, morphological changes, and intercomparison parameters. Results: A total of 19 studies encompassing 12 different kinds of braces met the inclusion/exclusion criteria. Clinical effectiveness was reported in 14 studies, with an average short-term Cobb angle correction of 25.4% (range: 12.41–34.3%) and long-term correction of 18.22% (range: 15.79–19.3%). This result aligned broadly with the previously reported efficacy of the traditional braces in short-term cases (range: 12.36–31.33%), but was lower than the long-term ones (range: 23.02–33.6%). Two included studies reported an interface pressure range between 6.0 kPa and 24.4 kPa for novel braces, which was comparable to that of the traditional braces (4.8–30.0 kPa). Additionally, five of six studies reported the trunk asymmetric parameters and demonstrated improvement in trunk alignment. Conclusions: This study demonstrates that most newly designed scoliosis braces could achieve comparable biomechanical efficacy to the conventional designs, particularly in interface pressure management and Cobb angle correction. However, future clinical adoption of these novel braces requires further improvements of ergonomic design and three-dimensional correction, as well as more investigation and rigorous evidence on the long-term treatment outcomes and cost-effectiveness. Full article

Background/Objectives: Cerebral palsy (CP) is one of the most common causes of permanent motor disability in children, and its consequences for upper limb function have a significant impact on the patient’s independence and quality of life. Virtual reality is attracting increasing interest as a modern, engaging and effective method of physiotherapy for children with cerebral palsy. This systematic literature review aimed to synthesize current scientific data on the impact of virtual-reality-based physiotherapy on upper limb function in children with cerebral palsy. Methods: The review was conducted in accordance with PRISMA 2020 guidelines. PubMed, Science Direct, Scopus, Web of Science, Research Gate and Google Scholar databases were searched for studies published between 2010 and 2025. Six original studies meeting the following criteria were included in the analysis: virtual reality therapy, population of children with cerebral palsy, physiotherapy goals related to the upper limb and availability of full text. Results: All included studies demonstrated a positive impact of virtual reality on at least one functional parameter of the upper limb, including range of motion, muscle strength, coordination and manual precision. Task-oriented training, immersive virtual reality environments and home-based therapy supported by remote monitoring proved to be the most effective. The effects were particularly noticeable in children with moderate impairment at GMFCS I–III. Conclusions: Virtual reality represents a safe and promising technology to support upper limb physiotherapy in children with cerebral palsy. It can be used both in clinical and home settings, contributing to increased exercise intensity and motivation. Further long-term studies using high-quality methodology are needed to determine the sustainability of the effects and their impact on everyday living. Full article

Fertility-sparing treatments (FSTs) have gained importance for young female cancer patients, especially those with early-stage cervical, ovarian, and endometrial cancers. However, concerns about the long-term safety of these procedures, particularly in more advanced cancers, persist. A literature review was conducted using databases such as PubMed, Scopus, and Web of Science. The search terms included “fertility preservation” and “gynaecological cancer”. Articles published between 2014 and 2024 were considered, with 39 articles cited in the paper. The inclusion criteria were female patients undergoing FST. Studies were excluded if prior treatments impacted fertility or if oncological outcomes were inadequately reported. Radical trachelectomy, laparoscopic fertility-sparing surgeries, and cryopreservation techniques, such as ovarian tissue vitrification and oocyte cryopreservation, offer viable options for preserving fertility in early-stage gynecological cancer patients. Radical trachelectomy and cryopreservation showed positive reproductive outcomes, with pregnancy rates of 30–50% in early-stage cases. GnRH analogs during chemotherapy also demonstrated benefits in maintaining fertility. Despite these advances, recurrence in more advanced stages (FIGO IA2 and beyond) remains a concern. Minimally invasive surgeries like robotic-assisted procedures demonstrated comparable fertility outcomes to traditional methods but with fewer complications. FST is a promising option for women with early-stage cancer, offering favorable reproductive and survival outcomes. However, further research is needed to confirm long-term oncological safety in advanced stages. Multidisciplinary approaches and individualized treatment planning are essential for optimizing outcomes. Full article

To address the fragmentation and weak correlation of knowledge in the design method domain, this paper proposes a framework for constructing a knowledge graph driven by multi-source heterogeneous data. The process involves collecting multi-source heterogeneous data and subsequently utilizing text mining and natural language processing techniques to extract design themes and method elements. A “theme–stage–attribute” three-dimensional mapping model is established to achieve semantic coupling of knowledge. The BERT-BiLSTM-CRF (Bidirectional Encoder Representations from Transformers-Bidirectional Long Short-Term Memory-Conditional Random Field) model is employed for entity recognition and relation extraction, while the Sentence-BERT (Sentence Bidirectional Encoder Representations from Transformers) model is used to perform multi-source knowledge fusion. The Neo4j graph database facilitates knowledge storage, visualization, and querying, forming the basis for developing a prototype of a design method recommendation system. The framework’s effectiveness was validated through experiments on extraction performance and knowledge graph quality. The results demonstrate that the framework achieves an F1 score of 91.2% for knowledge extraction, and an 8.44% improvement over the baseline. The resulting graph’s node and relation coverage reached 94.1% and 91.2%, respectively. In complex semantic query tasks, the framework shows a significant advantage over traditional classification systems, achieving a maximum F1 score of 0.97. It can effectively integrate dispersed knowledge in the field of design methods and support method matching throughout the entire design process. This research is of significant value for advancing knowledge management and application in innovative product design. Full article

Modern societies are increasingly experiencing limited contact with nature, a phenomenon referred to as the “nature deficit.” The article presents a systematic review of the literature on this issue, with particular emphasis on the role of forests in mitigating its effects. The analysis, based on the Scopus and Web of Science databases, synthesizes the current state of knowledge on the consequences of nature deficit for physical, mental, and social health, while also highlighting the potential of forests as spaces supporting human well-being. The review process followed a systematic methodology, using precisely defined keyword combinations and multi-stage screening. From an initial pool of 88 publications, a critical selection process led to 11 articles that met the inclusion criteria and were analyzed in depth. The findings show that regular contact with nature reduces stress, anxiety, and ADHD symptoms, supports cognitive development, and im-proves concentration, creativity, and social skills. At the same time, there is a lack of consistent tools for clearly diagnosing nature deficit, and existing studies face significant methodological limitations (small samples, subjective measurements, lack of laboratory control). The article also identifies research gaps, particularly in the context of sustainable forest management, cultural differences, and the long-term health effects of exposure to nature. Full article

Background: C3 glomerulopathies (C3G), including dense deposit disease (DDD) and C3 glomerulonephritis (C3GN), are rare kidney disorders driven by dysregulation of the alternative complement pathway. Eculizumab, a terminal complement inhibitor targeting C5, has emerged as a potential therapeutic option in these conditions. This systematic review evaluated the efficacy and safety of eculizumab in patients with C3G or DDD. Methods: Literature searches in PubMed and Cochrane databases identified case reports and case series reporting eculizumab use. Results: Only eight studies involving ten patients met the inclusion criteria. Eculizumab stabilized renal function and reduced proteinuria in most cases, especially when C5b-9 deposition was present. Histopathological improvements were variable, and recurrence after discontinuation occurred in some patients. Responses were limited in cases with alternative mechanisms of C5 activation. Conclusions: Eculizumab offers clinical benefit in select C3G and DDD patients but does not address the underlying cause of complement dysregulation. The need for long-term therapy, incomplete histologic resolution, and risk of relapse underscore the necessity of larger trials and the development of personalized treatment strategies. Full article

Background/Objectives: Astaxanthin, a naturally occurring carotenoid renowned for its potent antioxidant properties, has been proposed as a dietary supplement for weight management due to its potential effects on adipose tissue and skeletal muscle metabolism, as well as its anti-inflammatory properties. This meta-analysis systematically evaluated the impact of astaxanthin supplementation on body mass index (BMI) and body weight in adult populations. Methods: Comprehensive searches of reputable databases were conducted, adhering to the PRISMA guidelines, with statistical analyses performed using Jamovi. Results: The study incorporated data from nine clinical trials. Pooled results indicated no significant reduction in the context of BMI (−0.2162; 95% CI: −0.4697 to 0.0374) and a non-significant decrease in body weight (0.0230; 95% CI: −0.4534 to 0.4994) relative to control groups. The heterogeneity observed across studies was 30.1251% (p = 0.1593) for BMI and 73.3885% (p = 0.0002) for body weight management. The dose–response analysis showed no statistically significant association between astaxanthin dosage and outcomes related to BMI and body weight management. Additionally, statistical assessment of funnel plot asymmetry indicated no evidence of publication bias. Conclusions: The findings indicate that astaxanthin does not provide benefits in BMI regulation nor in weight control management, highlighting the need for additional large-scale and long-term clinical trials. This study contributes to the growing body of evidence on the role of nutraceuticals in metabolic health, providing a foundation for future clinical recommendations. Full article

Background: Radiation-induced lower motor neuron syndrome (LMNS) represents a rare but significant delayed complication of oncologic treatment. Methods: We present the case of a 56-year-old female who developed LMNS, myokymia, and osteoradionecrosis of the hip nearly two decades after receiving pelvic radiation therapy for cervical carcinoma. To the best of our knowledge, no previous reports have described this particular triad of neurological and tissue changes following radiation therapy. This clinical presentation is analyzed within the framework of a systematic review encompassing 58 documented cases, including our own. Results: The database searches yielded 530 records. In total, 32 studies were included in the qualitative synthesis, reporting 57 unique cases of post-radiation LMNS. With the addition of our present case, the final analysis comprised 58 cases. The majority of analyzed patients were male (77.2%), and the most frequent primary malignancies were germ cell tumors (57.9%). The mean age of the analyzed patients at symptom onset was 40.5 ± 13 years, with radiotherapy administered at a mean age of 30.3 ± 12.5 years. The latency period between radiation exposure and the emergence of neurological symptoms averaged 10.2 ± 8.7 years. The mean cumulative radiation dose was 49.0 ± 14.0 Gy. Myokymic discharges were identified in 6 patients (10.3% of cases). Comparative analysis revealed no significant clinical or radiological differences across malignancy subtypes in the manifestation of post-radiation LMNS. Conclusions: These findings highlight the need for long-term surveillance of irradiated patients. Full article

Background: Several narrative reports document long-term responses to regorafenib treatment in patients with metastatic colorectal cancer (mCRC). However, no large-scale study has assessed long-term responses and there are no established predictors of potential long-term benefit. We carried out an observational study of characteristics of patients treated in real-world clinical practice in the USA using duration of treatment (DoT) as a surrogate for treatment response. Patients and Methods: This retrospective cohort study used a de-identified electronic health record-derived database and included patients aged ≥18 years with mCRC who initiated regorafenib monotherapy between 1 July 2013 and 30 June 2023. Patient cohorts were defined by DoT ≥4 months (LTR4), ≥5 months (LTR5), or ≥6 months (LTR6) and are not mutually exclusive. Results: Of 2444 patients who initiated regorafenib monotherapy during the study, those with long-term response were analyzed: 544 had LTR4 (22%), 367 had LTR5 (15%), and 250 had LTR6 (10%). Most patients with long-term responses had left-sided tumors (65–70%), Eastern Cooperative Oncology Group performance status of 0/1 (67–68%), and liver metastases (55–61%) and had received prior bevacizumab treatment (60–67%). The median age in each group was 66 years, and patients most frequently initiated regorafenib as third-line treatment (31–33%). Median time to regorafenib discontinuation was 6.0–9.3 months among long-term responders. Conclusion: Most patients with long-term responses to regorafenib had favorable performance status at treatment initiation, left-sided tumors, and liver metastases and had received prior bevacizumab treatment. The study highlights that patients in the real-world setting were able to tolerate and maintain long-term responses to regorafenib treatment. Full article

Background: Adrenoleukodystrophy is a rare, inherited X-linked disease related to mutations in the ABCD1 gene. Peroxisomal β-oxidation is impaired, underpinning the tissue accumulation of very long-chain fatty acids (VLCFAs), especially in the central nervous system (i.e., the white matter and axons), adrenal glands, and testes. VLCFA accumulation contributes to oxidative stress, neuroinflammation, and progressive demyelination, leading to severe neurological sequelae. Though gene therapies and drug development are advancing, dietary management may still play a crucial role in modulating lipid metabolism and mitigating disease progression. Methods: A narrative review of studies published up to May 2025 in major scientific databases was conducted, focusing on biochemical and clinical outcomes, including VLCFA plasma modulation and nutritional status. Results: VLCFA restriction alone has shown limited efficacy due to the counteractive effect of endogenous synthesis. “Lorenzo’s Oil” inhibits VLCFA elongation, yet with inconsistent clinical benefits. Novel dietary strategies, such as the “Bambino Diet” and innovative dietary supplements similar to Lorenzo’s Oil, composed of glyceryl trioleate, glyceryl trierucate, and antioxidants, provide promising biochemical effects, such as reducing VLCFA plasma levels and improving lipid profiles. Malnutrition risk is also increased in X-ALD patients, underscoring the need for personalized nutritional interventions. Conclusions: Dietary strategies are one of the pillars of X-ALD management, to be further combined with pharmacological, gene therapies, and hematopoietic stem cell transplantation. Future research should refine emerging therapies, assess long-term effects, and develop personalized nutritional strategies. Full article

Background/Objectives: Skeletal Class III malocclusion in growing patients presents therapeutic challenges. While traditional tooth-anchored facemask (FM) therapy is widely used, it may induce undesired dental effects. Bone-anchored maxillary protraction (BAMP), using either miniscrews (MSs) or miniplates (MPs), has been proposed to enhance skeletal outcomes and minimize dental compensation. The objective is to compare the efficacy of MS and MP as skeletal anchorage in the orthopedic treatment of the Class III growing patients. Methods: This systematic review and meta-analysis followed PRISMA guidelines. Five databases and manual searches were conducted without restrictions. Inclusion criteria encompassed randomized and non-randomized controlled trials assessing cephalometric outcomes in growing patients treated with MS or MP. Risk of bias was assessed with RoB 2 and ROBINS-I tools, and evidence certainty was evaluated using GRADE. A meta-analysis was performed, collecting all the statistically significant results that emerged in the 11 articles between skeletal anchorage and controls, comparing the values of the MP group with the MS group. Results: Eleven studies (seven MP, four MS) met the inclusion criteria. Both MS and MP groups showed significant maxillary advancement and improved maxillo–mandibular relationships compared to controls. Regarding vertical values, studies have reported contrasting outcomes. Soft tissue improvements were consistent in both MS and MP devices. Statistical analysis has highlighted how MP devices demonstrated more pronounced skeletal effects, while MS systems were associated with more dental effects. Conclusions: MP may be preferable when the aim is to maximize skeletal correction with fewer dental side effects, while MS can be considered in cases favoring less invasive approaches; long-term follow-up and high-quality clinical studies are needed to confirm these clinical assessments. Full article

Background/Objectives: Ketone bodies are increasingly studied for their potential therapeutic effects, particularly through exogenous ketosis, in a variety of diseases. This systematic review aimed to rigorously assess the clinical efficacy of exogenous ketosis in adults with medical conditions. Methods: Following PRISMA guidelines, we systematically searched MEDLINE and Scopus databases. Our inclusion criteria were defined according to the PICOS framework, focusing on studies involving exogenous ketosis in adult patients with specific diseases. The study is registered in the International Prospective Register of Systematic Reviews (PROSPERO; CRD42023492846). Results: After a stringent selection process, fifty-one studies were analyzed. Twenty-two studies focused on neurological disorders, one on psychiatric disorders, twenty-two on metabolic disorders, five on cardiovascular disorders, and one on an inflammatory disorder. Exogenous ketosis demonstrated potential benefits across multiple conditions, including Alzheimer’s disease, mild cognitive impairment, McArdle’s disease, various forms of heart failure, cardiogenic shock, pulmonary hypertension, and COVID-19-related acute respiratory distress syndrome, although evidence is mostly limited to surrogate endpoints with insufficient hard outcome data. Subtherapeutic ketone concentrations induced by medium-chain triglycerides and limited follow-up periods often precluded firm conclusions regarding clinically meaningful outcomes. Conclusions: Exogenous ketosis shows potential in neurological, metabolic, and cardiovascular disorders, while evidence in psychiatric and inflammatory conditions remains scarce and preliminary. Ketone esters appear preferable for effective and tolerable ketosis. Future research should focus on identifying responsive patient populations, optimizing treatment regimens, and conducting long-term clinical trials with hard endpoints to validate these findings. Full article

Background/Objectives: L-Citrulline (CIT) is a non-essential amino acid abundant in watermelon and commonly used as a dietary supplement to enhance exercise performance. Although its benefits for endurance and resistance training are well documented, its effects on body composition remain uncertain. This systematic review and dose–response meta-analysis aimed to assess the impact of CIT supplementation on anthropometric parameters. Methods: A comprehensive search of major databases identified relevant randomized controlled trials (RCTs) published until March 2025. A random-effects model was used to synthesize the data. Results: Twenty-one RCTs were included. Overall, CIT supplementation had no substantial effects on body mass index (BMI), body weight, fat mass (FM), waist circumference (WC), body fat percentage (BFP), and fat-free mass (FFM). Subgroup analyses revealed reductions in FM among participants over 40 years of age and in those administered more than 6 g/day of CIT. Interventions lasting 3 to 8 weeks were associated with a significant increase in FFM. Dose–response analyses suggested a non-linear association between CIT supplementation duration and changes in FM and FFM. Conclusions: CIT supplementation appears to have no overall effect on body composition. However, exploratory findings indicated potential benefits at higher doses or shorter durations. Rigorous trials controlling for dietary intake and training variables are needed to clarify its long-term effects. Full article

Objectives: The aim of this systematic review was to evaluate the effectiveness of thoracic manual therapy with or without exercise for improving clinical outcomes (pain, disability, range of motion (ROM), quality of life (QoL) and satisfaction) in patients with subacromial pain syndrome (SPS). Methods: A systematic review was conducted following PRISMA guidelines. Randomized controlled trials (RCTs) involving thoracic manual therapy with or without thoracic exercise for patients with SPS were included. Databases searched included PubMed, PEDro, Cochrane Library, and Web of Science up to April 2025. The methodological quality was evaluated with the PEDro scale. Results: Seven RCTs involving 393 patients were included. Interventions ranged from thoracic manipulation alone to combinations with exercises. Better outcomes were reported for every clinical outcome evaluated: pain, disability, ROM, QoL and satisfaction. However, methodological heterogeneity and variability in follow-up durations limited result generalizability. Conclusions: Thoracic manual therapy applied in isolation or with exercise was reported to have positive effects in reducing pain and disability in patients with SPS, especially in the short term. These findings support the inclusion of thoracic interventions as complementary strategies in shoulder rehabilitation programs. Future high-quality trials with long-term follow-up are needed to confirm and standardize these approaches. Full article