Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.

Objective To analyze the current status and research frontiers of Huanglian Jiedu decoction based on bibliometrics.Methods By retrieving Chinese and English literature related to Huanglian Jiedu decoction in multiple databases from January 12000 to December 31 2024.A total of 1237 and 102 Chinese and English literature were included respectively,and the literature were analyzed by bibliometrics analysis.Results The keyword analysis showed that metabolomics,network pharmacology,mechanism pathway and autophagy regulation were the research hotspots of Huanglian Jiedu decoction.Conclusion The research field of Huanglian Jiedu decoction should integrate clinical and basic advantages,expand experimental protocols,strengthen long-term efficacy and safety evaluation,and explore multi-target and multi-disease synergistic effects and drug interactions.

In recent years,with the advancement of microbial detection technologies,an increasing number of studies have revealed significant differences in the gut microbiota composition of kidney transplant recipients before and after surgery.These changes in the gut microbiota may influence graft function and the occurrence of post-transplant complications through a variety of factors.This article will review the research progress in the relationship between gut microbiota and kidney transplantation.It focuses on the changes in gut microbiota after kidney transplantation.The role of gut microbiota in immune regulation,drug metabolism,graft function protection,and post-transplant complications is also studied.At the same time,these effects may be of great significance in improving the short-term and long-term prognosis of kidney transplant recipients,thus providing a novel idea for further improving kidney transplant prognosis.

Neurofibromatosis type 1 (NF1) presents with a diverse range of symptoms that can affect the skin, bones, eyes, central nervous system, and other organs. This article reports the diagnosis and treatment process of a patient with NF1 complicated by bilateral severe-to-profound sensorineural hearing loss. Genetic testing revealed a heterozygous variant of NF1 NM_ 000267.3: c.4054_ 4058del(p.Ser1352LeufsTer20, supporting the diagnosis of NF1. After thorough evaluation, a right cochlear implantation was performed, yielding satisfactory postoperative results. This case suggests that NF1 patients may exhibit phenotypic heterogeneity and atypicality, providing a reference for clinicians in the diagnosis and treatment of such patients.

Liver diseases have become a major challenge threating the global health, posing a heavy burden on both social and personal well-being. In recent years, the development of the gut-liver axis theory has provided new research perspectives and intervention strategies for the prevention and treatment of liver diseases. Natural products, recognized as biological molecules with diverse sources, rich activities, and minimal side effects, demonstrate great potential in regulating intestinal flora and improving liver health. Studies have shown that natural products such as saponins, polyphenols, polysaccharides, and alkaloids can regulate the composition and metabolites of intestinal flora, thereby intervening in liver diseases. In this paper, we systematically review the role of natural products in the regulation of the intestinal flora-gut-liver axis and summarize recent research progress in the prevention and treatment of liver diseases. Furthermore, we outline the challenges and limitations currently facing the study in this field. Finally, this paper makes an outlook on the clinical application of natural products in treating liver diseases and discusses future research directions, aiming to give new insights into the mechanisms by which natural products regulate the intestinal flora-gut-liver axis and the applications of these products in the prevention and treatment of liver diseases.
Humans ; Gastrointestinal Microbiome/drug effects* ; Liver Diseases/prevention & control* ; Biological Products/pharmacology* ; Polyphenols/pharmacology* ; Saponins/pharmacology* ; Intestines/microbiology* ; Alkaloids/pharmacology* ; Polysaccharides/pharmacology* ; Liver

Objective To analyze the current status and research frontiers of Huanglian Jiedu decoction based on bibliometrics.Methods By retrieving Chinese and English literature related to Huanglian Jiedu decoction in multiple databases from January 12000 to December 31 2024.A total of 1237 and 102 Chinese and English literature were included respectively,and the literature were analyzed by bibliometrics analysis.Results The keyword analysis showed that metabolomics,network pharmacology,mechanism pathway and autophagy regulation were the research hotspots of Huanglian Jiedu decoction.Conclusion The research field of Huanglian Jiedu decoction should integrate clinical and basic advantages,expand experimental protocols,strengthen long-term efficacy and safety evaluation,and explore multi-target and multi-disease synergistic effects and drug interactions.

Red blood cell (RBC) antibodies refer to antibodies targeting erythrocyte surface antigens, which can be classified by their origin and characteristics into autoantibodies (warm and cold antibodies), alloantibodies, drug-induced antibodies, and irregular antibodies. Among them, the autoantibody can induce and mediate the autoimmune hemolytic anemia (AIHA) which represents one of the most common acquired hemolytic disorders in clinical practice, characterized by accelerated RBC destruction and shortened erythrocyte lifespan. AIHA is primarily categorized into warm antibody type, cold antibody type, and mixed type based on its optimal reaction temperature.With advancements in immunology and molecular biology research, and clinical laboratory technologies, the clinical testing methods for autoantibodies have evolved from traditional agglutination tests to high-sensitivity techniques such as enzyme-linked immunosorbent assays (ELISA), flow cytometry, and molecular diagnostics. These technological improvements have not only enhanced the detection rate of anti-RBC antibodies but also significantly expanded their clinical applications.This article provides a critical review of the clinical significance of warm and cold antibodies in AIHA, encompassing their detection methods, pathogenic mechanisms, and therapeutic progress, aiming to serve as a reference for both clinicians and laboratory physicians.

In recent years,with the advancement of microbial detection technologies,an increasing number of studies have revealed significant differences in the gut microbiota composition of kidney transplant recipients before and after surgery.These changes in the gut microbiota may influence graft function and the occurrence of post-transplant complications through a variety of factors.This article will review the research progress in the relationship between gut microbiota and kidney transplantation.It focuses on the changes in gut microbiota after kidney transplantation.The role of gut microbiota in immune regulation,drug metabolism,graft function protection,and post-transplant complications is also studied.At the same time,these effects may be of great significance in improving the short-term and long-term prognosis of kidney transplant recipients,thus providing a novel idea for further improving kidney transplant prognosis.

Red blood cell (RBC) antibodies refer to antibodies targeting erythrocyte surface antigens, which can be classified by their origin and characteristics into autoantibodies (warm and cold antibodies), alloantibodies, drug-induced antibodies, and irregular antibodies. Among them, the autoantibody can induce and mediate the autoimmune hemolytic anemia (AIHA) which represents one of the most common acquired hemolytic disorders in clinical practice, characterized by accelerated RBC destruction and shortened erythrocyte lifespan. AIHA is primarily categorized into warm antibody type, cold antibody type, and mixed type based on its optimal reaction temperature.With advancements in immunology and molecular biology research, and clinical laboratory technologies, the clinical testing methods for autoantibodies have evolved from traditional agglutination tests to high-sensitivity techniques such as enzyme-linked immunosorbent assays (ELISA), flow cytometry, and molecular diagnostics. These technological improvements have not only enhanced the detection rate of anti-RBC antibodies but also significantly expanded their clinical applications.This article provides a critical review of the clinical significance of warm and cold antibodies in AIHA, encompassing their detection methods, pathogenic mechanisms, and therapeutic progress, aiming to serve as a reference for both clinicians and laboratory physicians.