OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

war ; armed conflicts ; Nuclear Energy ; Atomic Energy ; Radiation ; Nuclear Weapons

war ; Armed Conflicts ; Nuclear Energy ; Atomic Energy ; Radiation ; Nuclear Weapons

Case 1 was a 7-year-old girl; Case 2 was her 3-year-old younger brother. Both children developed pink urine shortly after birth and exhibited blistering on photo-exposed areas (face and hands), followed by ulceration, crusting, scarring, and joint contractures leading to impaired mobility. Genetic testing in both patients identified a homozygous variant in the UROS gene, c.776T>C (p.Leu259Pro), confirming autosomal recessive congenital erythropoietic porphyria due to UROS mutations. This case report highlights that congenital erythropoietic porphyria should be considered in infants and young children with unexplained hemolytic anemia, pink urine, and severe photosensitive dermatitis. Early genetic testing is recommended to facilitate timely intervention and improve outcomes.
Humans ; Porphyria, Erythropoietic/genetics* ; Female ; Child ; Child, Preschool ; Male ; Siblings ; Mutation ; Uroporphyrinogen III Synthetase/genetics*

BACKGROUND

The Philippines implemented a law on the inclusion of graphic health warning (GHW) labels in cigarette packs to increase awareness about the health effects of smoking, to quit smoking, or to deter potential users from engaging in cigarettes. Investigating its impact on senior high school (SHS) students may provide insights into enhancing and reinforcing the law to achieve its purpose at the adolescent developmental stage.

The objective of this study was to determine the perceived emotional and cognitive reactions as well as the perceived health risks of GHWs among nonsmoking SHS students in Leyte and their relationship to their level of exposure.

A cross-sectional design was employed involving 247 students from public high schools in Pastrana, Leyte, who were selected through stratified random sampling. A self-report questionnaire was used to gather the data. Spearman’s rho correlation coefficient was used to test the hypothesis.

The majority of the participants reported positive perceptions of GHW labels. Moreover, the majority of them have seen GHW at least once a week on cigarette packs and evoked variable agreement about the high arousal and low arousal negative emotion, but have positive cognitive reactions. They have a strong agreement on the perceived health risks posed by cigarette smoking through GHWs. There was a positive and significant correlation between the level of exposure and the perceived health risks of smoking through the GHWs.

Adolescent learners reported variable agreement on emotional reactions, but had positive cognitive reactions to tobacco GHW labels. They also have reported that GHWs in cigarette packs provide positive visual information on the health effects and other consequences of smoking. Those who have frequent exposure to the GHWs of the cigarette packs were more likely to report knowledge and information on the health risks of smoking. Thus, the GHWs on cigarette packs are still necessary to decrease the new smoker rate, especially among adolescents. Policy implications toward the continuous development of GHWS are offered.

OBJECTIVE: To discuss the development status of meridian diagnosis technology through the patent analysis, so as to obtain the hot spots of patents and provide the ideas for the research and development of new equipment. METHODS: The patent data of meridian diagnosis technology were searched from Chinese Think Tank of Traditional Chinese Medicine. The patent analysis and SWOT method were used to deeply explore the patent application of meridian diagnosis technology. RESULTS: Among 100 patents included, the inventions were mainly in Chinese mainland, and the invention institution was from Chengdu University of TCM. Since 2015, the number of patent application for meridian diagnosis technology was increasing, and up to a peak from 2020 to 2021. The main technological programs cover electrical, temperature and optical detection; and the application functions focus on the precise positioning of acupoints, and the diagnosis of zangfu diseases. CONCLUSION From the perspective of patents, it is suggested that the development of meridian diagnosis technology in China should pay attention to reducing the cost, improving the function, driving the standard formulation, strengthening safety measure, deepening human-machine interaction, exploring biological effect and optimizing the experimental platform. Through continuous innovation and breakthrough, the meridian diagnosis technology can be further matured and widely applied, so as to realize its comprehensive upgrade.
Meridians ; Humans ; Patents as Topic ; Medicine, Chinese Traditional/instrumentation* ; China ; Acupuncture Points

OBJECTIVE: To reveal the research status of fire needle by analyzing its patent applications, so as to provide reference for the development of fire needle equipment and the promotion of this therapy. METHODS: By searching the incoPat global patent database, from its inception to December 29th, 2024, the patent data on fire needle was collected. The patent analysis was employed on patent application trends, geographical distribution, patent types, current legal status, applicants and inventors, overall technical composition and distribution of applicable diseases. With the help of incoPat's "shared value" evaluation model, the technical efficacy value of patent was comprehensively measured from 3 dimensions, i.e. technical stability, technological advancement and protection scope. Using SWOT analysis, the matrix of strengths, weaknesses, opportunities and threats of fire needle technique was constructed, and then its development trend was analyzed systematically. RESULTS: A total of 346 patents were included, comprising 23 granted invention patents (6.65%), 219 utility model patents (63.29%), and 157 patents were in an effective state of validity (45.38%). The number of fire needle patent applications showed a growing trend since 2013 and peaked in 2021. The top 3 provinces and cities in terms of the number of applications were Guangdong, Beijing and Shandong. Existing patents focus on improving convenience, reducing complexity, enhancing safety and increasing efficiency; and are specialized in treatment of dermatological diseases. The results of patent research on fire needle show the application of updated materials, invention of equipment and expansion of applicable diseases. However, there are still some limitations such as technical complexity, high cost, lack of composite talents, lack of awareness of patent maintenance and insufficient international promotion. CONCLUSION Multiple strategies are proposed on the development of fire needle therapy, i.e. enhancing financial support and expanding the number of diseases, giving full play to regional characteristics and advantages to promote resource sharing, deepening the integration of industry, research and education to improve the quality of patents, strengthening supervision to reduce low-quality patents, and carrying out high-level research to promote technical standardization and internationalization, and enhance global competitiveness.
Patents as Topic ; Humans ; Acupuncture Therapy/methods* ; Needles ; China

This study systematically analyzed the global research landscape, technological composition, and core patents in the field of networks target and network pharmacology, and proposes further suggestions based on the IncoPat patent citation database and VOSviewer bibliometric network visualization tool. Using patent literature metrics and scientific knowledge mapping method, technological innovation pathways, research hotspots, and future directions in this field were further revealed. In particular, this field is moving towards data-driven, intelligent, and systematic approaches. Patent analysis indicated that most patent applications in this domain focused on traditional Chinese medicine(TCM), which have provided key engineering technical approaches to explore and solve complex problems of TCM. By integrating big data and artificial intelligence technologies, network targets and network pharmacology have conferred high-precision screening and quality control of key components and targets in herbal formulations and prescriptions, accelerating the clinical translation and industrialization of TCM-based new drugs and health products with medicine-food homology. Therefore, it is essential to optimize the patent protection system and establish integrated technology platforms in this field for ensuring the competitiveness of technological achievements in research and clinical application. These efforts will advance the widespread application and high-quality development of TCM modernization, precision medicine, and innovative drug discovery.
Bibliometrics ; Patents as Topic ; Humans ; Medicine, Chinese Traditional ; Network Pharmacology/trends* ; Drugs, Chinese Herbal/pharmacology*

Endangered Chinese medicinal materials have a wide range of applications and play an indispensable role in the system of traditional Chinese medicine(TCM). The protection of these endangered medicinal materials has always been a crucial task in the development of TCM. This paper systematically reviewed the changes in regulatory bodies for the protection of endangered Chinese medicinal materials and their related management policies since 1949, and conducted an in-depth discussion of the current laws and regulations governing the protection of endangered Chinese medicinal materials. At the same time, the paper comprehensively organized the current situation of endangered Chinese medicinal material protection in China, analyzed its causes, pointed out deficiencies in the current protective measures, and proposed countermeasures and suggestions for improvement, with the aim of providing references and guidance for the sustainable development of Chinese medicinal materials. Through this review, the paper aimed to raise public and governmental awareness of the importance of protecting endangered Chinese medicinal materials, thereby promoting the sustainable and healthy development of TCM. Additionally, the paper hopes to provide ideas for the formulation and implementation of relevant policies and contribute to the further improvement and deepening of the protection efforts for endangered Chinese medicinal materials.
Drugs, Chinese Herbal/analysis* ; China ; Endangered Species/legislation & jurisprudence* ; Medicine, Chinese Traditional ; Plants, Medicinal/chemistry* ; Conservation of Natural Resources/legislation & jurisprudence* ; Humans

The emergence of new-generation artificial intelligence technology has brought numerous innovations to the healthcare field, including telemedicine and intelligent care. However, the artificial intelligent medical device sector still faces significant challenges, such as data privacy protection and algorithm reliability. This study, based on invention patent analysis, revealed the technological innovation trends in the field of artificial intelligent medical devices from aspects such as patent application time trends, hot topics, regional distribution, and innovation players. The results showed that global invention patent applications had remained active, with technological innovations primarily focused on medical image processing, physiological signal processing, surgical robots, brain-computer interfaces, and intelligent physiological parameter monitoring technologies. The United States and China led the world in the number of invention patent applications. Major international medical device giants, such as Philips, Siemens, General Electric, and Medtronic, were at the forefront of global technological innovation, with significant advantages in patent application volumes and international market presence. Chinese universities and research institutes, such as Zhejiang University, Tianjin University, and the Shenzhen Institute of Advanced Technology, had demonstrated notable technological innovation, with a relatively high number of patent applications. However, their overseas market expansion remained limited. This study provides a comprehensive overview of the technological innovation trends in the artificial intelligent medical device field and offers valuable information support for industry development from an informatics perspective.
Artificial Intelligence ; Patents as Topic ; Humans ; Inventions ; China ; Brain-Computer Interfaces ; Telemedicine ; Equipment and Supplies ; Robotics ; Algorithms