The health of the human body is the result of the dynamic interplay between immunity and various microorganisms. Furthermore, the health of the mitochondrial grid determines the strength of immunity. Mitochondrial imbalance leads to the metabolic remodeling of intracellular nutrients, which accelerates the occurrence and development of tumors. The theory of yin and yang and the theory of visceral outward manifestation are the foundation and core of traditional Chinese medicine (TCM) theory, which guides the clinical diagnosis and treatment of TCM. Yang Qi is the driving force behind the metabolism and physiological functions of the human body; it is also the adenine nucleoside triphosphate produced efficiently by mitochondrial aerobic respiration. The main transport of spleen refers to the biological oxidation process of food in the mitochondria, and its normal function is closely related to the integrity of the mitochondrial structure and function of the cell. Therefore, warming yang and strengthening the spleen essentially means restoring the high production capacity of the mitochondria. Rebuilding damaged mitochondrial function, improving efficiency, and boosting the energy level of the neuro-endocrine-immune network are the key factors contributing to the body’s ability to resist disease and return to health.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a patient with Weiss-Kruszka syndrome (WSKA). METHODS: A male patient presented with primary infertility for 1 year post-marriage, intellectual disability, and blepharoptosis at Huzhou Maternity and Child Health Care Hospital from October to December 2024 was selected as the study subject. Peripheral blood samples were collected from the patient and his family members. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Ethics Committee of the Hospital (Ethics No. 2023-R-010). RESULTS: The patient, a 29-year-old male, had exhibited short stature, trigonocephaly, bilateral blepharoptosis, arched eyebrows, brachydactyly, redundant skin folds, webbed neck, hypertrichosis, mild intellectual disability, and speech impairment. WES revealed that he has harbored a de novo heterozygous frameshifting variant of the ZNF462 gene, namely c.945_946del (p.T316Rfs*42). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PM2_Supporting+PVS1+PM6_Supporting). CONCLUSION The ZNF462 c.945_946del variant probably underlay the WSKA in this patient. Above finding has enriched the mutational spectrum of the ZNF462 gene.
Humans ; Male ; Adult ; Intellectual Disability/genetics* ; Transcription Factors/genetics* ; Exome Sequencing ; Mutation ; Abnormalities, Multiple/genetics* ; Blepharoptosis/genetics*

Objective:To explore the clinical characteristics and genetic etiology of a patient with Weiss-Kruszka syndrome (WSKA).Methods:A male patient presented with primary infertility for 1 year post-marriage, intellectual disability, and blepharoptosis at Huzhou Maternity and Child Health Care Hospital from October to December 2024 was selected as the study subject. Peripheral blood samples were collected from the patient and his family members. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Ethics Committee of the Huzhou Maternity and Child Health Care Hospital (Ethics No. 2023-R-010).Results:The patient, a 29-year-old male, had exhibited short stature, trigonocephaly, bilateral blepharoptosis, arched eyebrows, brachydactyly, redundant skin folds, webbed neck, hypertrichosis, mild intellectual disability, and speech impairment. WES revealed that he has harbored a de novo heterozygous frameshifting variant of the ZNF462 gene, namely c. 945_946del (p.T316Rfs*42). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PM2_Supporting+ PVS1+ PM6_Supporting). Conclusion:The ZNF462 c. 945_946del variant probably underlay the WSKA in this patient. Above finding has enriched the mutational spectrum of the ZNF462 gene.

Guanylate binding protein subunit β-2(GNB2)is an important part of G protein family.In the process of cell signal transduction,GNB2 plays a structural support and regulatory role in G protein complex,ensuring the correct transmission and amplification of signals,interacting with receptors and regulating vari-ous effector enzymes and ion channels,and mediating a variety of physiological functions.Therefore,GNB2 plays a key role in cell signaling,and participates in the regulation of cell proliferation,differentiation and mi-gration and other biological processes.This article reviews the research progress of GNB2,focusing on its structure,function,regulatory mechanism,disease correlation and importance in tumor research.

Type 2 diabetes mellitus(T2DM)is a metabolic disease characterized by insulin resistance,and is one of the most common chronic non-communicable diseases worldwide.In the field of traditional Chinese medicine(TCM),yang deficiency causing diabetes is one of the important pathogenetic mechanisms of T2DM and contributes to the core pathological basis of insulin resistance.Guided by the theory of yang deficiency causing diabetes,this paper reviewed the relevant domestic literature issued in recent years,sorted out western medical pathogenesis and treatment for insulin resistance in T2DM,TCM theory of yang deficiency causing diabetes and its clinical application,and the clinical efficacy of TCM for the treatment of insulin resistance,and then explored the applicability of theory of yang deficiency causing diabetes for TCM treatment of insulin resistance in T2DM.It is concluded that TCM treatment for insulin resistance in T2DM based on the theory of yang deficiency causing diabetes has significant efficacy and advantages,for it realizes the integration of advantages of TCM and western medicine and achieves the synergistic actions through keeping the scientific nature and standardization of western medicine and by maintaining the advantages of holism and individualization of TCM treatment.TCM treatment for insulin resistance is effective on improving insulin signal transduction,insulin secretion function and other related metabolic abnormalities indicators through multiple pathways and targets,thus to improve the health status of the body.TCM treatment for insulin resistance exerts good safety and tolerance,and can reduce the incidence of adverse reactions caused by western medicine.However,the research on TCM treatment for insulin resistance still has the insufficiencies such as low quality of clinical trials,unclear therapeutic mechanism,and lack of innovation and pioneering.Further relevant research needs to be carried out in-depth,so as to provide a scientific basis for TCM to play a greater role in preventing and treating metabolic diseases.

Objective:To review and synthesize the best evidence for non-surgical offloading management in patients with diabetic foot ulcers, so as to provide reference for clinical medical staff.Methods:A literature retrieval strategy was developed to search the related articles on the management of offloading in patients with diabetic foot ulcer on the websites and databases of various guidelines.The retrieval time limit was from the establishment of the database to June 15, 2024. The quality of the literature was evaluated by two graduate students, and the evidence was extracted and synthesized.Results:A total of 15 articles were included, including 5 guidelines, 8 systematic reviews/Meta-analyses, 1 expert consensus and 1 randomized controlled trial, the best 31 pieces of evidence were obtained from 5 aspects: assessment and screening of foot ulcers, preventive offloading intervention, selection of offloading devices, other offloading techniques, and structured education.Conclusions:The evidence of non-surgical offloading management in patients with diabetic foot ulcers summarized in this study is helpful for medical and nursing professionals to provide optimal nursing and treatment outcomes for patients with diabetic foot ulcers, it also reduces the risk of infection, hospitalization and amputation.

The advent of bruton tyrosine kinase inhibitors (BTKi) has offered more therapeutic choices for patients with B-cell malignancies. However, with its widespread application in recent years, the use of BTKi increases the risk of severe infections in patients. Here, we report three cases of B-cell malignancies, including one case of chronic lymphocytic leukemia and two cases of diffuse large B-cell lymphoma. During treatment with BTKi zanubrutinib, different degrees of invasive fungal disease (IFD) of the central nervous system occurred in these patients. All patients fully recovered following antifungal therapy. With a median follow-up of 35 months, all patients remained in a continuous remission state, and none of them had a recurrence of IFD.

Purpose To investigate the correlation between two autophagy-related proteins,JMY and WHAMM,and autophagic dysfunction and prognosis in gliomas.Methods A total of 113 cases of diffuse gliomas and 14 control brain tissues were collected.The expression of JMY,WHAMM,and autophagy-related markers were evaluated using the EnVision two-step method of immunohistochemistry.Correlations between the expression of JMY and WHAMM and clinicopathological features,prognosis,and autophagy markers were analyzed.Results The high expression rates of JMY and WHAMM in control brain tissue were significantly higher than those in diffuse gliomas.The expressions of JMY and WHAMM were associated with pathological grade and age.Compared with low-grade gliomas(LGG),high-grade gliomas(HGG)showed significantly lower high-expression rates of JMY and WHAMM.Patients with low expres-sion of JMY and WHAMM had shorter overall survival than those with high expression.Cox regression analysis indica-ted that the high pathological grade and low expression of JMY were independent prognostic risk factors.The expression profiles of autophagy markers suggested reduced autophagic activity in HGGs,and JMY expression was positively corre-lated with autophagy markers.Conclusion The high expression rates of JMY and WHAMM are significantly lower in HGGs compared to LGGs.JMY and WHAMM may serve as potential molecular markers for the prognostic evaluation of diffuse gliomas.

Purpose To investigate the correlation between two autophagy-related proteins,JMY and WHAMM,and autophagic dysfunction and prognosis in gliomas.Methods A total of 113 cases of diffuse gliomas and 14 control brain tissues were collected.The expression of JMY,WHAMM,and autophagy-related markers were evaluated using the EnVision two-step method of immunohistochemistry.Correlations between the expression of JMY and WHAMM and clinicopathological features,prognosis,and autophagy markers were analyzed.Results The high expression rates of JMY and WHAMM in control brain tissue were significantly higher than those in diffuse gliomas.The expressions of JMY and WHAMM were associated with pathological grade and age.Compared with low-grade gliomas(LGG),high-grade gliomas(HGG)showed significantly lower high-expression rates of JMY and WHAMM.Patients with low expres-sion of JMY and WHAMM had shorter overall survival than those with high expression.Cox regression analysis indica-ted that the high pathological grade and low expression of JMY were independent prognostic risk factors.The expression profiles of autophagy markers suggested reduced autophagic activity in HGGs,and JMY expression was positively corre-lated with autophagy markers.Conclusion The high expression rates of JMY and WHAMM are significantly lower in HGGs compared to LGGs.JMY and WHAMM may serve as potential molecular markers for the prognostic evaluation of diffuse gliomas.

Objective:To review and synthesize the best evidence for non-surgical offloading management in patients with diabetic foot ulcers, so as to provide reference for clinical medical staff.Methods:A literature retrieval strategy was developed to search the related articles on the management of offloading in patients with diabetic foot ulcer on the websites and databases of various guidelines.The retrieval time limit was from the establishment of the database to June 15, 2024. The quality of the literature was evaluated by two graduate students, and the evidence was extracted and synthesized.Results:A total of 15 articles were included, including 5 guidelines, 8 systematic reviews/Meta-analyses, 1 expert consensus and 1 randomized controlled trial, the best 31 pieces of evidence were obtained from 5 aspects: assessment and screening of foot ulcers, preventive offloading intervention, selection of offloading devices, other offloading techniques, and structured education.Conclusions:The evidence of non-surgical offloading management in patients with diabetic foot ulcers summarized in this study is helpful for medical and nursing professionals to provide optimal nursing and treatment outcomes for patients with diabetic foot ulcers, it also reduces the risk of infection, hospitalization and amputation.