1.Key points of the International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with Achondroplasia.
Hangyu PING ; Ran DING ; Cheng HUANG ; Yue PENG ; Zikang ZHONG ; Weiguo WANG
Chinese Journal of Medical Genetics 2026;43(1):5-12
Achondroplasia (ACH) is a common inherited skeletal dysplasia (inherited dwarfism) that compromises quality of life across the lifespan. In 2021, vosoritide became the first approved precision therapy for ACH and is now available in more than 40 countries. Compared with prior symptomatic measures, vosoritide has demonstrated favorable efficacy and a reassuring safety profile. Nevertheless, existing international ACH guidelines largely emphasize complication management and symptomatic care, and there is no unified consensus on pharmacologic therapy. To address this gap, an international expert group developed the International Consensus Guidelines for the Implementation and Monitoring of Vosoritide Therapy in Patients with Achondroplasia providing systematic recommendations that span the continuum of care - from initial patient contact and pre-treatment assessment to medication counseling, injection training, and long-term outcome monitoring. These recommendations complement and refine current management and nursing protocols for individuals with ACH and offer practical guidance for clinicians across diverse regions. This article highlights key elements of the guideline to provide evidence-based support and clinical direction for healthcare professionals in China treating children with ACH using vosoritide.
Humans
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Achondroplasia/drug therapy*
;
Consensus
;
Practice Guidelines as Topic
;
Child
2.Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome.
Hui HU ; Shengnan WU ; Kai CHEN ; Jingbo SHAO ; Ting ZHANG ; Yongmei XIAO
Chinese Journal of Medical Genetics 2026;43(2):123-128
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
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Male
;
X-Linked Inhibitor of Apoptosis Protein/deficiency*
;
Child
;
Genetic Diseases, X-Linked/therapy*
;
Phenotype
;
Siblings
;
Retrospective Studies
;
Hematopoietic Stem Cell Transplantation
3.The anesthetic management of a pediatric patient for drug-induced sleep endoscopy (DISE): A case report.
Acta Medica Philippina 2026;60(1):88-91
Drug-induced sleep endoscopy (DISE) is used for directly visualizing sites of obstruction among patients with obstructive sleep apnea (OSA). Owing to the scarcity of data, there is still no consensus on the anesthetic regimen for conducting pediatric DISE.
This paper presents a 5-year-old patient who underwent DISE using an opioid-sparing regimen with dexmedetomidine and propofol infusion.
Simultaneous dexmedetomidine and propofol infusion is a promising opioid-sparing regimen for pediatric DISE.
Human ; Male ; Child Preschool: 2-5 Yrs Old ; Endoscopy ; Propofol ; Dexmedetomidine ; Sleep Apnea, Obstructive ; Anesthetics ; Apnea ; Consensus ; Paper ; Patients ; Pharmaceutical Preparations ; Research Report ; Sleep ; Sleep Apnea Syndromes ; World Health Organization
4.A cultural values model of pakikipag-ugnayan: Examining hiya, pakikisama, and pakikipag-ugnayan among Filipino generation Z nurses.
Angelika B. Avila ; Francis Oliver M. Aldaba ; Maryjoy Loraine T. Almonte ; Enrique B. Alzate ; Trisha B. Amita ; Ma. Andrea M. Avila ; Zg Jungco A. Asoy ; Tristan Jourdan C. Dela Cruz
Acta Medica Philippina 2026;60(9):91-99
OBJECTIVES
This study explored the interplay of three Filipino cultural values—hiya (modesty/self-restraint), pakikisama (conflict-avoidance dimension of social harmony), and pakikipag-ugnayan (professional engagement, characterized by vigor, dedication, and absorption)—among Generation Z nurses in Quezon City. Specifically, it assessed their levels, examined interrelationships through correlation and path analysis, and developed a framework to illustrate their influence on nursing practice. In the Filipino context, hiya encompasses both positive dimensions, such as conscientiousness, moral accountability, and social responsibility, and constraining dimensions, including excessive self-restraint, fear of criticism, and inhibition. Pakikisama, while fostering harmony, may discourage assertiveness and limit open communication. Pakikipag-ugnayan, conceptualized here as engagement, reflects dedication, vigor, and absorption, which are vital for performance, patient safety, and workforce retention.
METHODSA descriptive–correlational design was utilized to assess the relationships among hiya, pakikisama, and pakikipag-ugnayan. Data were gathered through a structured, self-administered questionnaire comprising validated scales for each construct, distributed in online formats to accommodate participants’ availability and work schedules. The purposive sample consisted of 115 Filipino Generation Z nurses engaged in direct patient care in various healthcare facilities in Quezon City. Data analysis involved descriptive statistics to summarize variable scores, Spearman’s rho to examine bivariate correlations, and path analysis to determine the direct and indirect effects among the variables. The results of the path analysis were used to develop a proposed framework illustrating the interplay of these cultural values in nursing practice.
RESULTSPath analysis revealed distinct patterns in the interplay of hiya, pakikisama, and pakikipag-ugnayan among Generation Z nurses in Quezon City. Very high hiya scores (mean = 5.32) reflected both moral accountability and restraint-oriented tendencies. Despite these positive indicators, hiya showed a negative correlation with pakikipag-ugnayan, suggesting that its inhibiting side—marked by fear of criticism and avoidance of mistakes—may overshadow its constructive moral aspects. In contrast, the path analysis identified a moderate positive direct effect between hiya and pakikipag-ugnayan (β = 0.400, pCONCLUSION
Among Generation Z nurses, hiya demonstrates a dual role: while its ethical and conscientious aspects can strengthen pakikipag-ugnayan, its inhibiting side may suppress pakikipag-ugnayan. Pakikisama, operationalized as conflict avoidance and withholding dissent, emerged as a barrier to pakikipag-ugnayan by discouraging open communication. These findings informed the development of the Hiya–Pakikisama– Pakikipag-ugnayan Cultural Dynamics Framework, which illustrates how cultural values can simultaneously enable and constrain professional engagement. The framework has potential applications in nursing education and organizational practice, particularly in designing reflective learning, mentorship, and communication strategies that balance cultural sensitivity with assertiveness. Further validation across generations and healthcare settings is recommended to refine its applicability.
Human ; Weights And Measures ; Sensitivity And Specificity ; Retention (psychology) ; Education, Nursing ; Social Responsibility ; Appointments And Schedules ; Conflict (psychology)
5.The use of social media for student-led initiatives in undergraduate medical education: A cross-sectional study
Nina Therese B. Chan ; Leonard Thomas S. Lim ; Hannah Joyce Y. Abella ; Arlyn Jave B. Adlawon ; Teod Carlo C. Cabili ; Iyanla Gabrielle C. Capule ; Gabrielle Rose M. Pimentel ; Raul Vicente O. Recto jr. ; Blesile Suzette S. Mantaring ; Ronnie E. Baticuol
Acta Medica Philippina 2025;59(6):58-70
BACKGROUND AND OBJECTIVES
One of the effects of the COVID-19 pandemic on medical education is an increased awareness and use of social media (SocMed) to facilitate learning. However, literature on the use of SocMed in medical education has focused primarily on educator-led teaching activities. Our study aimed to describe SocMed initiatives that were student-led, particularly for information dissemination and peer collaborative learning, and to elicit perceptions of medical students towards such activities.
METHODSAn online survey on SocMed usage in medical education was sent to all first- and second-year medical students at the University of the Philippines Manila College of Medicine from October to December 2021. The questionnaire collected data on demographics, SocMed habits and preferences, and perceived advantages and disadvantages of SocMed. Descriptive statistics were calculated while the free-text responses were grouped into prominent themes and summarized.
RESULTSWe received a total of 258 responses (71%) out of 361 eligible participants. Overall, 74% found SocMed platforms to be very and extremely helpful; 88% recommended its continued use. The most popular SocMed platforms for different tasks were as follows: Discord for independent study groups and for conducting peer tutoring sessions; Facebook Messenger for reading reminders; Telegram for reading announcements related to academics and administrative requirements, and for accessing material provided by classmates and professors.
CONCLUSIONThe high uptake of SocMed among medical students may be attributed to its accessibility and costefficiency. The use of a particular SocMed platform was dependent on the students’ needs and the platform's features. Students tended to use multiple SocMed platforms that complemented one another. SocMed also had disadvantages, such as the potential to distract from academic work and to become a source of fatigue. Educators must engage with students to understand how SocMed platforms can be integrated into medical education, whether in the physical or virtual learning environment.
Human ; Education, Medical, Undergraduate ; Social Media ; Online Learning ; Education, Distance
6.Functions and experiences of male midwives in the Province of Aurora: An ethnographic qualitative study
Daisy Fangkingan - kaba-an ; Joel A. Valencia ; Jasmin M. Dumangeng ; Eva F. Dimog
Acta Medica Philippina 2025;59(Early Access 2025):1-10
BACKGROUND
This study explores the professional functions and experiences of male midwives in the Province of Aurora, highlighting their roles, challenges, and contributions to maternal and child healthcare in a traditionally female-dominated profession.
OBJECTIVEThis study aims to investigate the professional functions and lived experiences of male midwives in the Province of Aurora.
METHODSThis research employed a qualitative ethnographic design using semi-structured interviews to collect data. Participants were six male midwives practicing in Aurora. Data collection was conducted via mobile phone interviews from August to September 2024. A purposive sampling technique was utilized to select participants. The study adhered to ethical guidelines, receiving approval from the University of Northern Philippines Ethics Review Committee Code: 2024-251, and informed consent was obtained from all participants. Data were analyzed using qualitative content analysis. Qualitative inductive content analysis as described by Padgett was utilized to allow for data-driven analysis without pre-defined themes, making it suitable for exploring the diverse experiences of male midwives.
RESULTSAnalysis revealed six key themes: Diverse professional functions, gender bias and stereotyping, patient reluctance and shyness, cultural influences, experiences of discrimination and prejudice, and daily challenges and rewards in practice. The findings underscore the commitment of male midwives to providing quality care despite societal and professional barriers. Under the Functions theme, male midwives described their roles as not only caregivers but also as advocates for gender inclusivity in midwifery. In terms of experiences, some reported feelings of isolation and the need to prove their competence in a field dominated by women. However, they also shared empowering stories of camaraderie with female colleagues and the satisfaction derived from breaking down gender barriers.
CONCLUSIONMale midwives play a vital role in maternal and newborn healthcare, navigating challenges such as gender bias and patient hesitancy. Strengthening administrative support, promoting inclusivity, and updating policies can enhance their professional integration. Advocacy efforts from professional organizations are necessary to address workplace challenges and recognize their contributions to healthcare.
Human ; Male ; Midwifery ; Gender Bias ; Sexism ; Maternal Health ; Community ; Residence Characteristics
7.Expert consensus on apical microsurgery.
Hanguo WANG ; Xin XU ; Zhuan BIAN ; Jingping LIANG ; Zhi CHEN ; Benxiang HOU ; Lihong QIU ; Wenxia CHEN ; Xi WEI ; Kaijin HU ; Qintao WANG ; Zuhua WANG ; Jiyao LI ; Dingming HUANG ; Xiaoyan WANG ; Zhengwei HUANG ; Liuyan MENG ; Chen ZHANG ; Fangfang XIE ; Di YANG ; Jinhua YU ; Jin ZHAO ; Yihuai PAN ; Shuang PAN ; Deqin YANG ; Weidong NIU ; Qi ZHANG ; Shuli DENG ; Jingzhi MA ; Xiuping MENG ; Jian YANG ; Jiayuan WU ; Yi DU ; Junqi LING ; Lin YUE ; Xuedong ZHOU ; Qing YU
International Journal of Oral Science 2025;17(1):2-2
Apical microsurgery is accurate and minimally invasive, produces few complications, and has a success rate of more than 90%. However, due to the lack of awareness and understanding of apical microsurgery by dental general practitioners and even endodontists, many clinical problems remain to be overcome. The consensus has gathered well-known domestic experts to hold a series of special discussions and reached the consensus. This document specifies the indications, contraindications, preoperative preparations, operational procedures, complication prevention measures, and efficacy evaluation of apical microsurgery and is applicable to dentists who perform apical microsurgery after systematic training.
Microsurgery/standards*
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Humans
;
Apicoectomy
;
Contraindications, Procedure
;
Tooth Apex/diagnostic imaging*
;
Postoperative Complications/prevention & control*
;
Consensus
;
Treatment Outcome
8.Expert consensus on pulpotomy in the management of mature permanent teeth with pulpitis.
Lu ZHANG ; Chen LIN ; Zhuo CHEN ; Lin YUE ; Qing YU ; Benxiang HOU ; Junqi LING ; Jingping LIANG ; Xi WEI ; Wenxia CHEN ; Lihong QIU ; Jiyao LI ; Yumei NIU ; Zhengmei LIN ; Lei CHENG ; Wenxi HE ; Xiaoyan WANG ; Dingming HUANG ; Zhengwei HUANG ; Weidong NIU ; Qi ZHANG ; Chen ZHANG ; Deqin YANG ; Jinhua YU ; Jin ZHAO ; Yihuai PAN ; Jingzhi MA ; Shuli DENG ; Xiaoli XIE ; Xiuping MENG ; Jian YANG ; Xuedong ZHOU ; Zhi CHEN
International Journal of Oral Science 2025;17(1):4-4
Pulpotomy, which belongs to vital pulp therapy, has become a strategy for managing pulpitis in recent decades. This minimally invasive treatment reflects the recognition of preserving healthy dental pulp and optimizing long-term patient-centered outcomes. Pulpotomy is categorized into partial pulpotomy (PP), the removal of a partial segment of the coronal pulp tissue, and full pulpotomy (FP), the removal of whole coronal pulp, which is followed by applying the biomaterials onto the remaining pulp tissue and ultimately restoring the tooth. Procedural decisions for the amount of pulp tissue removal or retention depend on the diagnostic of pulp vitality, the overall treatment plan, the patient's general health status, and pulp inflammation reassessment during operation. This statement represents the consensus of an expert committee convened by the Society of Cariology and Endodontics, Chinese Stomatological Association. It addresses the current evidence to support the application of pulpotomy as a potential alternative to root canal treatment (RCT) on mature permanent teeth with pulpitis from a biological basis, the development of capping biomaterial, and the diagnostic considerations to evidence-based medicine. This expert statement intends to provide a clinical protocol of pulpotomy, which facilitates practitioners in choosing the optimal procedure and increasing their confidence in this rapidly evolving field.
Humans
;
Calcium Compounds/therapeutic use*
;
Consensus
;
Dental Pulp
;
Dentition, Permanent
;
Oxides/therapeutic use*
;
Pulpitis/therapy*
;
Pulpotomy/standards*
9.Expert consensus on orthodontic treatment of protrusive facial deformities.
Jie PAN ; Yun LU ; Anqi LIU ; Xuedong WANG ; Yu WANG ; Shiqiang GONG ; Bing FANG ; Hong HE ; Yuxing BAI ; Lin WANG ; Zuolin JIN ; Weiran LI ; Lili CHEN ; Min HU ; Jinlin SONG ; Yang CAO ; Jun WANG ; Jin FANG ; Jiejun SHI ; Yuxia HOU ; Xudong WANG ; Jing MAO ; Chenchen ZHOU ; Yan LIU ; Yuehua LIU
International Journal of Oral Science 2025;17(1):5-5
Protrusive facial deformities, characterized by the forward displacement of the teeth and/or jaws beyond the normal range, affect a considerable portion of the population. The manifestations and morphological mechanisms of protrusive facial deformities are complex and diverse, requiring orthodontists to possess a high level of theoretical knowledge and practical experience in the relevant orthodontic field. To further optimize the correction of protrusive facial deformities, this consensus proposes that the morphological mechanisms and diagnosis of protrusive facial deformities should be analyzed and judged from multiple dimensions and factors to accurately formulate treatment plans. It emphasizes the use of orthodontic strategies, including jaw growth modification, tooth extraction or non-extraction for anterior teeth retraction, and maxillofacial vertical control. These strategies aim to reduce anterior teeth and lip protrusion, increase chin prominence, harmonize nasolabial and chin-lip relationships, and improve the facial profile of patients with protrusive facial deformities. For severe skeletal protrusive facial deformities, orthodontic-orthognathic combined treatment may be suggested. This consensus summarizes the theoretical knowledge and clinical experience of numerous renowned oral experts nationwide, offering reference strategies for the correction of protrusive facial deformities.
Humans
;
Orthodontics, Corrective/methods*
;
Consensus
;
Malocclusion/therapy*
;
Patient Care Planning
;
Cephalometry
10.Expert consensus on the prevention and treatment of enamel demineralization in orthodontic treatment.
Lunguo XIA ; Chenchen ZHOU ; Peng MEI ; Zuolin JIN ; Hong HE ; Lin WANG ; Yuxing BAI ; Lili CHEN ; Weiran LI ; Jun WANG ; Min HU ; Jinlin SONG ; Yang CAO ; Yuehua LIU ; Benxiang HOU ; Xi WEI ; Lina NIU ; Haixia LU ; Wensheng MA ; Peijun WANG ; Guirong ZHANG ; Jie GUO ; Zhihua LI ; Haiyan LU ; Liling REN ; Linyu XU ; Xiuping WU ; Yanqin LU ; Jiangtian HU ; Lin YUE ; Xu ZHANG ; Bing FANG
International Journal of Oral Science 2025;17(1):13-13
Enamel demineralization, the formation of white spot lesions, is a common issue in clinical orthodontic treatment. The appearance of white spot lesions not only affects the texture and health of dental hard tissues but also impacts the health and aesthetics of teeth after orthodontic treatment. The prevention, diagnosis, and treatment of white spot lesions that occur throughout the orthodontic treatment process involve multiple dental specialties. This expert consensus will focus on providing guiding opinions on the management and prevention of white spot lesions during orthodontic treatment, advocating for proactive prevention, early detection, timely treatment, scientific follow-up, and multidisciplinary management of white spot lesions throughout the orthodontic process, thereby maintaining the dental health of patients during orthodontic treatment.
Humans
;
Consensus
;
Dental Caries/etiology*
;
Dental Enamel/pathology*
;
Tooth Demineralization/etiology*
;
Tooth Remineralization


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