Full or partial trisomy of human chromosome 21 results in dysregulation of gene expression, leading to the manifestation of specific phenotypes described in individuals with Down syndrome (DS). Defects in brain development, coupled with impairment in neurogenesis, are ultimately expressed as cognitive deficiency, Alzheimer disease (AD), and dementia. Amid the triplication of all human chromosome 21 (HSA21) genes, dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A)-mediated neurogenesis and dendritic development have been attributed to the learning and memory deficits and cognitive impairment in the DS population. Upregulated DYRK1A perturbs the development and function of the brain, collectively affecting neurogenesis, synaptogenesis, synaptic transmission, and cell signaling pathways, which might disproportionately produce inhibitory neurotransmission and contribute to the cognitive phenotype. However, the lack of distinct gene-phenotype associations acts as a potential barrier to therapeutic improvement of cognitive performance and amelioration of AD-related neurodegeneration. The present review aims to summarize the neurogenetic consequences of triplicated DYRK1A in the DS population in relation to sexual dimorphism and expression of the Apolipoprotein Eε4 (APOE ε4) genotype. Notably, normalization of trisomic DYRK1A demonstrated improved synaptic plasticity, glutamatergic/GABAergic (excitatory/inhibitory) balance, and learning and memory in DS mouse models. Therapeutic approaches using inhibitors of DYRK1A, including catechins present in green tea extract and several other natural and synthetic agents, produced variable outcomes in cognitive improvement, depending on age and dose of administration. Mitigation of impairment in neurogenetic differentiation and cognitive performance might help control AD-related dementia and enhance quality of life. This review highlights the consequences of upregulated DYRK1A kinase on impairment of neurogenesis and cognitive deficits, and the therapeutic challenges associated with DYRK1A inhibitors for ameliorating dysregulated gene expression in DS models and human DS.

Artificial intelligence (AI) is transforming the diagnosis, treatment, monitoring, and research of soft tissue disorders, which include muscles, tendons, ligaments, fascia, nerves, and blood vessels. Traditional diagnostic methods often rely on imaging, histopathology, and clinical evaluation, which can be time-consuming and prone to human error. This review aims to explore the impact of AI on enhancing soft tissue care. The review examines the application of deep learning algorithms in medical imaging, pathology, predictive analytics, and treatment planning. It also evaluates AI’s role in monitoring and rehabilitation, as well as its contributions to research in soft tissue disorders. AI significantly improves the accuracy of medical imaging analysis, facilitating the detection of abnormalities such as tumors and tears. AI-powered pathology tools automate slide analysis, enhancing diagnostic consistency and efficiency. Predictive analytics enable early risk assessment and personalized patient management. In surgical contexts, AI supports preoperative simulations and robotic-assisted procedures, leading to improved outcomes. Additionally, AI enhances patient monitoring through wearable devices and telemedicine. The integration of AI into soft tissue diagnostics and therapeutics presents transformative potential for personalized and efficient healthcare. However, challenges related to data security, algorithm bias, interpretability, and ethical considerations must be addressed. Overall, AI holds promise for improving patient outcomes and advancing medical science in the field of soft tissue disorders.

Metabolism-associated fatty liver disease (MAFLD) is a disease of hepatic fat accumulation resulting from metabolic disorders. Currently, MAFLD is the most common cause of chronic liver disease in children and adolescents. No effective or safe drugs for treating children with MAFLD are available. The traditional Chinese medicine used for treating MAFLD in children is characterized by being holistically regulated, multileveled, multi-targeting, and very safe. In this paper, the progress in research involving treatment using traditional Chinese medicine for MAFLD in children is reviewed.

Traditional Chinese medicine (TCM) combined with antiviral therapy has been proven to be effective for liver fibrosis due to chronic hepatitis B (CHB) in clinical practice in China. However, the robust evidence is limited, and the validity of results has been controversial in the past. The current study is to evaluate the efficacy and safety of the combination therapy of TCM plus entecavir (ETV) in the management of HBV-associated liver fibrosis or cirrhosis.

Seven electronic databases were searched from inception to 10 August 2021. Primary outcome of this study was the regression of liver fibrosis; the secondary outcomes were a necro-inflammatory improvement, alanine aminotransferase (ALT), HBV DNA undetectable rate, HBeAg loss and HBeAg seroconversion. All the trials included were assessed by the Cochrane risk-of-bias tool.

It showed that TCM plus ETV attenuated liver fibrosis or cirrhosis in chronic hepatitis B patients as compared to ETV monotherapy(OR = 1.65; 95% CI: 1.29~2.11; P < 0.000,1). There is no statistical difference between TCM plus ETV and ETV in histological activity index, HBV DNA undetectable rate, HBeAg loss, HBeAg seroconversion and adverse events(P<0.05).

The comprehensive evaluation showed that TCM combined with ETV treatment was safe for the patients with CHB, and better promoted the regression of liver fibrosis than ETV monotherapy. However, the standardized, rigorously designed, and large-scale randomized controlled trials (RCTs) were needed for further validation.

Accumulating evidence indicates that fecal syndecan-2 (SDC2) methylation is a promising biomarker for early detection of colorectal cancer. This study aimed to investigate the diagnostic efficacy of fecal SDC2 methylation testing for adenomas and evaluate the risk stratification efficacy of the Asia-Pacific Colorectal Screening Scoring (APCS) combined with SDC2 methylation status.

This was a prospective, multicenter diagnostic study. Adult participants with no history of colonoscopy within the past three years were enrolled. Demographic data were collected, and APCS scores were evaluated. All participants underwent fecal SDC2 methylation testing and colonoscopy. Colonoscopy outcomes and pathological results of any polyps served as reference standards. The fecal SDC2 methylation test and reference standard assessments were conducted in a blinded manner. The APCS-SDC2 scoring system was developed by integrating fecal SDC2 methylation results with APCS scores, and its efficacy was assessed.

In total, 985 participants were enrolled, among whom 62 (6.3%) tested positive for fecal SDC2 methylation. The sensitivity and specificity of fecal SDC2 methylation in detecting advanced adenomas were 31.3% (95% confidence interval (CI): 21.6–42.7%) and 96.1% (95% CI: 94.6–97.2%), respectively. The APCS-SDC2 scoring system demonstrated superior discriminatory performance for advanced adenomas (area under the curve: 0.7032; 95% CI: 0.5869–0.8195). For advanced adenoma screening, the specificity of the APCS-SDC2 score was higher than that of the APCS score (86.7% vs. 66.7%; P < 0.001).

A positive fecal SDC2 methylation test indicated a higher risk of advanced adenoma, and colonoscopy should be prioritized. The APCS-SDC2 scoring system demonstrated superior risk stratification performance for advanced adenomas.

To observe the clinical efficacy of Jiawei Lizhong Tang combined with dorsal Yu acupoint embedding in patients with non-alcoholic steatohepatitis (NASH).

A total of 118 patients with NASH who attended the Department of Gastroenterology at Liuzhou Hospital of Traditional Chinese Medicine from January 2020 to December 2022 were selected as study subjects. The participants were randomly assigned to either the control group or the observation group using a random number table, with 59 cases in each group. The control group received treatment with Western medicine (compound glycyrrhizin capsule), whereas the observation group received treatment with traditional Chinese medicine combined with thread embedding (Jiawei Lizhong Tang combined with dorsal Yu acupoints embedding). Both groups received a treatment course of 12 weeks. The following anthropometric indicators were measured: weight, waist circumference, and body mass index. Liver function was assessed by measuring alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyltransferase (GGT), and total bilirubin (TBIL). Lipid profile indicators included triglycerides (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C). Blood glucose indicators included fasting blood glucose, fasting insulin (FINS), and insulin resistance index (HOMA-IR). Additionally, liver stiffness measurement (LSM), controlled attenuation parameter (CAP), and liver/spleen CT ratio were assessed. Clinical efficacy was evaluated at the end of the treatment period.

After 12 weeks of treatment, significant improvements were observed in weight, waist circumference, BMI, serum ALT, AST, GGT, TBil, TG, TC, LDL-C, HDL-C, fasting glucose, FINS, HOMA-IR, LSM, CAP, and liver/spleen CT ratio in both groups compared to baseline (P＜0.05). The improvements in these indicators were significantly better in the observation group than in the control group after treatment (P＜0.05).

The treatment of NASH with Jiawei Lizhong Tang combined with dorsal Yu acupoint embedding effectively improves patient condition, reduces liver function damage, regulates blood lipids, insulin resistance, and hepatic steatosis. The therapeutic effect is superior to that of Western medicine therapy.

ATP-binding cassette (ABC) transporters are transmembrane proteins involved in the translocation of bilirubin, bile acids, phospholipids, and cholesterol into bile canaliculi. Mutations in particular genes encoding these transporters—including BSEP (ABCB11 gene), MDR3 (ABCB4 gene), sterolin-1 and sterolin-2 (ABCG5/8 genes), and MRP2 (ABCC2 gene)—result in a wide spectrum of liver diseases, ranging from benign conditions such as Dubin-Johnson syndrome to more severe presentations like progressive familial intrahepatic cholestasis. The severity of disease is influenced by many factors, including zygosity, mutation type, and environmental modifiers such as hormones, consanguinity, and founder effects. Homozygous and compound heterozygous mutations typically result in severe and early-onset diseases, while heterozygous single-allelic mutants generally result in milder diseases. Next-generation genetic testing has proven to have high diagnostic value and is important for prognostication. With knowledge of the underlying specific mutations, there is also potential for future targeted therapy for many severe diseases. The aim of this review is to update and discuss the hepatic diseases associated with ABC transporter mutations, the genetic and environmental effects that influence the severity of disease, typical presentations of these cholestatic hepatic diseases, diagnostic considerations, and treatment options.

Metabolic dysfunction-associated steatotic liver disease (MASLD), previously termed nonalcoholic fatty liver disease (NAFLD), has emerged as one of the most prevalent chronic liver diseases globally, affecting nearly 30% of the adult population, with rising incidence rates across all age groups, including younger individuals. This disease is closely linked to the increasing burden of obesity, type 2 diabetes, and metabolic syndrome, reflecting a global shift towards sedentary lifestyles and unhealthy dietary habits. The renaming of NAFLD to MASLD underscores its strong association with systemic metabolic dysfunction, which drives disease progression and highlights its multifaceted nature. Importantly, MASLD is not only a leading cause of end-stage liver complications, such as liver fibrosis, cirrhosis, and hepatocellular carcinoma (HCC), but also contributes to significant extrahepatic burdens, including cardiovascular disease, chronic kidney disease, and diabetes-related complications.

Endometrial polyp (EMP) is one of the most common diagnoses in the evaluation of women with abnormal uterine bleeding. Understanding the malignancy risk associated with EMPs and related risk factors is essential for guiding both pathology practice and clinical management. This study aimed to explore risk factors for malignancy in EMPs.

The pathology database was searched for women diagnosed with EMP between 2021 and 2022. Patient age, polyp size, background endometrium, recurrence, and (if applicable) cancer types were recorded. Immunohistochemistry (IHC) for p53 and p16 was performed on selected cases. Risk factors for malignancy were analyzed using Chi-square and analysis of variance tests.

Among the 740 EMP cases analyzed, 94% were benign, 2% were premalignant, and 4% were malignant. The median patient age was 54 years (range: 19–92). Minimal serous carcinoma (n = 14, 2%) was the most prevalent cancer. Among the 52 cases with p53 IHC, 38 were diagnosed as benign, supported by a wild-type p53 pattern, while 14 were diagnosed as serous carcinoma, supported by a mutant p53 pattern. Malignant polyps were found to be significantly associated with advanced age and malignant background endometrium (p < 0.001). Large size and recurrence were not identified as significant risk factors.

EMPs carry a low risk of malignancy, which is not significantly influenced by the polyp’s size or its recurrence. Our findings highlight the significantly elevated risk of malignancy in elderly patients and the importance of p53 IHC in improving diagnostic accuracy.