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

OBJECTIVES

This study aimed to identify problems and highlight opportunities for pharmaceutical sciences research in the Philippine pharmaceutical industry's regulatory and clinical research sectors that might have been previously overlooked or underrepresented. It identified current issues that can be addressed by research covering four areas of pharmaceutical sciences: drug design and discovery, pharmacokinetic/pharmacodynamic studies, formulation design and pharmaceutical technology, and regulatory science.

METHODS

A descriptive qualitative approach was used in this study. Data collection was facilitated by key informant interviews (KII) using a standardized interview guide with open-ended questions to identify the pharmaceutical science research needs of the specific sectors. A purposive sampling method was employed, with five key informants (KIs), including the company vice president, director, and top-level managers from different local and multinational pharmaceutical companies. ATLAS.ti software was utilized to facilitate thematic synthesis for qualitative data analysis.

RESULTS

Thirteen common themes were identified from the KIs, such as (1) incomplete development of therapeutic compounds, (2) sustainability of raw materials supply, (3) regulation of herbal medicines versus food supplements, (4) mapping disease priorities through the Philippine pharmaceutical roadmap, (5) government incentives and policies to support research, (6) technical personnel, (7) suboptimal regulatory process, approvals, and implementation, (8) gap in utilization of acquired knowledge on regulations, (9) regulatory governance, (10) passive regulatory action on counterfeit drugs, (11) PIC/S GMP version 14 adaption, (12) formulation optimization, and (13) active pharmaceutical ingredient (API) sourcing and regulation. Based on insights from the International Pharmaceutical Federation regarding anticipated hurdles in pharmaceutical sciences over the next 5-10 years, priority research needs were identified through KIs' input. Relevant action plans were developed, including the creation of research proposals to isolate, purify, and determine chemical structures of natural products, as well as analyzing recent Philippine Health Statistics to help assess the appropriateness of new drug releases for patient needs. Other action plans include forecasting future disease burdens in the country, performing toxicology studies (Health-Based Evaluation Levels/No Observed Adverse Effect Level or HBEL/NOAEL) for common generic drugs, and ensuring that research efforts are directed toward addressing the Philippine pharmaceutical regulatory and clinical research sector's most pressing needs practically and feasibly.

CONCLUSION

This study offers valuable insights into pharmaceutical sciences research and development initiatives within the regulatory and clinical research sectors in the Philippine pharmaceutical industry. These findings have the potential to catalyze transformative advancements in healthcare delivery and outcomes, positioning the Philippines for global excellence and competitiveness.

Occupational Groups ; No-observed-adverse-effect Level ; Social Control, Formal ; Patients ; Pharmaceutical Preparations

Nursing leadership and scholarship in the Philippines have evolved alongside the country's shifting socio-political and educational landscape. This feature article presents a first-person narrative of a nurse leader's journey from humble beginnings in Santiago, Isabela, to national and global leadership roles in education, regulation, and advocacy. This article aimed to illustrate how personal vocation, grounded in service and faith, can transform into professional leadership and scholarship that shape institutions, influence policy, and nurture future generations of Filipino nurses. Using autobiographical lens, I recounted formative experiences across clinical practice, education, administration, and regulation. These reflections are interwoven with leadership theories and scholarly evidence from global nursing literature that demonstrate how enduring principles such as servant leadership, integrity, resilience, compassion, and mentorship can guide professional practice. This narrative highlighted milestones such as pioneering collegiate nursing education at UERMMC, spearheading faculty and curricular reforms as Dean, championing ethical practice during the nursing licensure examination scandal, and advancing professional regulation through initiatives like the Career Progression and Specialization Program. It also underscored the role of resilience in overcoming personal affliction, the importance of mentorship in sustaining legacy, and the impact of integrity in safeguarding nursing's credibility. From the parable of the mustard seed to the reality of nation-building through nursing, this life story affirmed that leadership and scholarship are not individual achievements but collective legacies. By embracing lifelong learning, ethical practice and a commitment to national service, Filipino nurses can continue to grow as competent practitioners, compassionate caregivers, and visionary leaders who contribute to equitable and sustainable health systems. In telling this story, I also sought to situate my journey within the broader context of nursing leadership in the Philippines, where enduring challenges and emerging opportunities continue to call for vision, resilience, and integrity.

Human ; Scholarship ; Fellowships And Scholarships ; Resilience ; Resilience, Psychological ; Regulation ; Social Control, Formal ; Mentorships ; Mentors ; Education, Nursing ; Philippines

OBJECTIVE: Observational studies have shown inconsistent associations of loneliness or social isolation (SI) with ischemic heart disease (IHD), with unknown mediators. METHODS: Using data from genome-wide association studies of predominantly European ancestry, we performed a bidirectional two-sample Mendelian Randomization (MR) study to estimate causal effects of loneliness ( N = 487,647) and SI traits on IHD ( N = 184,305). SI traits included whether individuals lived alone, participated in various types of social activities, and how often they had contact with friends or family ( N = 459,830 to 461,369). A network MR study was conducted to evaluate the mediating roles of 20 candidate mediators, including metabolic, behavioral and psychological factors. RESULTS: Loneliness increased IHD risk ( OR= 2.129; 95% confidence interval [ CI]: 1.380 to 3.285), mediated by body fat percentage, waist-hip ratio, total cholesterol, and low-density lipoprotein cholesterol. For SI traits, only fewer social activities increased IHD risk ( OR= 1.815; 95% CI: 1.189 to 2.772), mediated by hypertension, high-density lipoprotein cholesterol, triglycerides, fasting insulin, and smoking cessation. No reverse causality of IHD with loneliness and SI was found. CONCLUSION These findings suggested more attention should be paid to individuals who feel lonely and have fewer social activities to prevent IHD, with several mediators as prioritized targets for intervention.
Loneliness/psychology* ; Humans ; Mendelian Randomization Analysis ; Social Isolation ; Myocardial Ischemia/etiology* ; Male ; Female ; Middle Aged ; Genome-Wide Association Study ; Risk Factors ; Aged

Advance medical directives allow patients to plan in advance their medical decisions in the event of incurable diseases or at the end of their lives when they have the capacity to make such decisions.This institutional design not only breaks through the traditional medical decision-making model and enables patients to make autonomous decisions across time and space,but also demonstrates the law's respect for and protection of patients' right to make autonomous decisions and their dignity of life.The Hong Kong Special Administrative Region submitted the bill related to advance medical directives to the Legislative Council for review at the end of 2023.On November 20,2024,the Advance Decision on Life-Sustaining Treatment Bill was passed,a move that is of great significance to regulating the legal issues in medical decision-making.This paper will delve into the basic principles,main contents,and related considerations of advance medical directives in Hong Kong,aiming to provide insights and references for the future improvement of relevant laws in the Chinese mainland.
Hong Kong ; Advance Directives/legislation & jurisprudence* ; Humans ; Decision Making

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

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

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.

OBJECTIVES

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.

METHODOLOGY

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.

RESULTS

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.

CONCLUSION

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.

Human ; Tobacco ; Tobacco Products ; Smoking ; Jurisprudence ; Adolescent

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