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
;
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
;
Male
;
X-Linked Inhibitor of Apoptosis Protein/deficiency*
;
Child
;
Genetic Diseases, X-Linked/therapy*
;
Phenotype
;
Siblings
;
Retrospective Studies
;
Hematopoietic Stem Cell Transplantation
3.Functions and experiences of male midwives in the Province of Aurora: An ethnographic qualitative study.
Daisy FANGKINGAN - FABA-AN ; Joel A. VALENCIA ; Jasmin M. DUMANGENG ; Eva F. DIMOG
Acta Medica Philippina 2025;59(18):61-70
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
4.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
5.External stigma in patients with visible skin diseases: A qualitative study.
Hongjin GUAN ; Zhongling LUO ; Yehong KUANG ; Yi XIAO ; Minxue SHEN
Journal of Central South University(Medical Sciences) 2025;50(3):373-381
OBJECTIVES:
Most dermatological conditions fall under visible skin diseases (VSDs), where lesions are exposed and readily seen, increasing patients' risk of experiencing external stigma from the public and specific professional groups (e.g., service providers). This stigma imposes psychological and social burdens that far exceed the psychological symptoms of the disease. To date, no systematic research has been conducted in China specifically on the external stigma associated with VSDs. Taking psoriasis, vitiligo, and acne as representative conditions, this study aims to explore the external stigma experienced by VSD patients across various social settings and to provide a scientific foundation for the development of measurement tools, quantitative research, and targeted interventions.
METHODS:
A purposive sample of 23 outpatients diagnosed with psoriasis, acne, or vitiligo was recruited from the Xiangya Hospital Dermatology Clinic of Central South University between December 2023 and July 2024. In-depth qualitative interviews were conducted. Data were analyzed using Mayring's qualitative content analysis and thematic analysis. Reporting followed the Consolidated Criteria for Reporting Qualitative Research guidelines. The interviews focused on the experience of external stigma across different social settings.
RESULTS:
Patients with VSDs reported experiencing external stigma in various contexts including family, community, recreational service venues, healthcare institutions, and others. The main motivation behind stigmatizing behaviors was disease avoidance (e.g., fear of contagion, aversion, social distancing). Stigmatization in school settings was also reported by patients with all 3 types of VSDs. Psoriasis patients reported stigma across all examined scenarios, while vitiligo and acne patients reported stigma in only some contexts.
CONCLUSIONS
Patients with VSDs experience significant external stigma, with psoriasis patients facing a higher burden compared to those with vitiligo or acne. The predominant stigma-driving factor is the public's desire to avoid disease, which underscores the need for public education to correct misconceptions about VSDs. External stigma from family, school, social networks, healthcare providers, and structural stigma should be the focus of policy and intervention efforts aimed at protecting the rights and well-being of patients with VSDs.
Humans
;
Social Stigma
;
Female
;
Male
;
Qualitative Research
;
Acne Vulgaris/psychology*
;
Skin Diseases/psychology*
;
Adult
;
Psoriasis/psychology*
;
Vitiligo/psychology*
;
Middle Aged
;
China
;
Young Adult
6.Association between stigma and quality of life in community-dwelling patients with schizophrenia: Multiple mediating roles of anxiety and depression symptoms.
Yue CHEN ; Xiaoyan WAN ; Qin YANG ; Changjiu HE ; Xuanyi HU ; Xiang LIU ; Yuanyuan LIU
Journal of Central South University(Medical Sciences) 2025;50(6):1042-1051
OBJECTIVES:
Stigma is common among community-dwelling patients with schizophrenia and has a profound negative impact on both psychiatric symptoms and quality of life. This study aims to explore the association between stigma and quality of life in this population and to examine the multiple mediating roles of anxiety and depression symptoms.
METHODS:
The multi-stage stratified cluster random sampling method was used to select the community-dwelling patients with schizophrenics in Chengdu, Sichuan Province, China. The questionnaire included general demographic characteristics, stigma question, the Generalized Anxiety Disorder-7 (GAD-7) scale, the Patient Health Questionnaire-9 (PHQ-9), and the 12-item Short Form Health Survey (SF-12). The SF-12 was used to measure quality of life, including physical health and mental health dimensions. A multiple mediation model was used to analyse the mediating effects of anxiety and depression symptoms together between stigma and quality of life.
RESULTS:
A total of 1 087 community patients with schizophrenia were included with a mean age of 50.68±12.73 years; 525 (48.30%) were male. Stigma was reported by 543 patients (49.95%). Anxiety symptoms were present in 292 patients (26.86%), and depression symptoms in 407 patients (37.44%). The physical health quality of life score was 72.01 ± 20.99, and the mental health quality of life score was 71.68 ± 19.38. Multiple mediation analysis showed that stigma directly affected quality of life, and also indirectly affected quality of life through anxiety and depression symptoms. Anxiety and depression jointly mediated 42.26% of the total effect of stigma on physical health quality of life and 47.51% on mental health quality of life.
CONCLUSIONS
Reducing stigma and preventing anxiety and depression symptoms in community-dwelling patients with schizophrenia can effectively improve their quality of life and support reintegration into society.
Humans
;
Quality of Life
;
Male
;
Depression/psychology*
;
Middle Aged
;
Social Stigma
;
Schizophrenia
;
Female
;
Anxiety/psychology*
;
China
;
Surveys and Questionnaires
;
Adult
;
Schizophrenic Psychology
;
Independent Living
;
Aged
7.Latent profile types and influencing factors of medication adherence mechanisms among rural older adults with multiple chronic conditions.
Zhige YAN ; Jun ZHOU ; Xing CHEN ; Yao WANG
Journal of Central South University(Medical Sciences) 2025;50(8):1443-1454
OBJECTIVES:
Older adults in rural areas with multiple chronic conditions (MCC) generally exhibit poorer medication adherence than the general elderly population. Considering individual heterogeneity helps to design precise subgroup-based interventions. This study aims to identify latent profile types of medication adherence mechanisms among rural older adults with MCC based on the capability-opportunity-motivation-behavior (COM-B) model, and to explore factors influencing medication adherence.
METHODS:
A multistage sampling method was used to recruit 349 rural older adults with MCC from 10 administrative villages in Jianghua County, Yongzhou City, Hunan Province, between July and September, 2024. Participants were surveyed using a general information questionnaire, the Health Literacy Scale for Chronic Patients, the Beliefs about Medicines Questionnaire-Specific, the Multidimensional Scale of Perceived Social Support, and the Morisky Medication Adherence Scale. Latent profile analysis based on the COM-B model was conducted to identify subgroups of medication adherence mechanisms. Univariate and Logistic regression analyses were used to identify influencing factors associated with different latent profiles and adherence levels.
RESULTS:
Among the participants, 33.5% demonstrated good medication adherence. The 5 most prevalent chronic diseases were hypertension (86.5%), diabetes (36.7%), arthritis or rheumatism (34.4%), stroke (21.8%), and heart disease (17.5%). Overall, rural older adults with MCC exhibited relatively good medication capability, opportunity, and motivation. Their medication adherence mechanisms were classified into 3 latent profiles: "family-support restrained type" (5.2%), "family-support driven type" (52.1%), and "comprehensive advantage type" (42.7%). Significant differences were observed among the three profiles in terms of education level, marital status, living arrangement, and per capita monthly household income (all P<0.05). Multivariate Logistic regression revealed that higher education level was a protective factor for belonging to the "comprehensive advantage type" rather than the "family-support driven type" [OR=0.277, 95% CI (PL) 0.126 to 0.614, P=0.002]. Furthermore, significant differences in education level, self-rated health status, and latent profile type were found between participants with good and poor adherence (P<0.05). Binary Logistic regression indicated that with each one-level increase in self-rated health status, the risk of poor adherence increased by 293.9% [OR=3.939, 95% CI (PL) 1.610 to 9.636, P=0.003]. Compared with the "family-support restrained type", individuals classified as the "comprehensive advantage type" had a 96.8% [OR=0.032, 95% CI (PL) 0.008 to 0.123, P<0.001] lower risk of poor medication adherence.
CONCLUSIONS
The mechanisms underlying medication adherence among rural older adults with MCC show clear heterogeneity. Primary healthcare providers should focus on the "family-support restrained type" subgroup, strengthen social support networks, and implement targeted interventions to improve medication adherence.
Humans
;
Aged
;
Rural Population
;
Male
;
Female
;
China
;
Medication Adherence/psychology*
;
Surveys and Questionnaires
;
Chronic Disease/drug therapy*
;
Multiple Chronic Conditions/drug therapy*
;
Social Support
;
Motivation
;
Middle Aged
;
Health Literacy
;
Aged, 80 and over
9.Expert consensus on the application of nasal cavity filling substances in nasal surgery patients(2025, Shanghai).
Keqing ZHAO ; Shaoqing YU ; Hongquan WEI ; Chenjie YU ; Guangke WANG ; Shijie QIU ; Yanjun WANG ; Hongtao ZHEN ; Yucheng YANG ; Yurong GU ; Tao GUO ; Feng LIU ; Meiping LU ; Bin SUN ; Yanli YANG ; Yuzhu WAN ; Cuida MENG ; Yanan SUN ; Yi ZHAO ; Qun LI ; An LI ; Luo BA ; Linli TIAN ; Guodong YU ; Xin FENG ; Wen LIU ; Yongtuan LI ; Jian WU ; De HUAI ; Dongsheng GU ; Hanqiang LU ; Xinyi SHI ; Huiping YE ; Yan JIANG ; Weitian ZHANG ; Yu XU ; Zhenxiao HUANG ; Huabin LI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(4):285-291
This consensus will introduce the characteristics of fillers used in the surgical cavities of domestic nasal surgery patients based on relevant literature and expert opinions. It will also provide recommendations for the selection of cavity fillers for different nasal diseases, with chronic sinusitis as a representative example.
Humans
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Nasal Cavity/surgery*
;
Nasal Surgical Procedures
;
China
;
Consensus
;
Sinusitis/surgery*
;
Dermal Fillers
10.Expert consensus on the clinical application of oral antihistamines in the treatment of upper airway allergic diseases in children.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(8):691-698
Upper airway allergic disease in children refers to chronic non-infectious inflammatory diseases of the upper airway caused by allergic inflammation. These diseases have high prevalences and great harm. Attentions should be paid to the treatment of these diseases. Oral antihistamines play an important role in the treatment of allergic diseases. However, there are many types of antihistamines. How to select appropriate antihistamines according to the age and characteristics of children to treat upper airway allergic diseases is a concern of pediatricians. Therefore, the Pediatric Otorhinolaryngology and Head and Neck Surgery Committee of the Chinese Association for the Promotion of Human Health Science and Technology organized relevant experts to form this consensus, in order to guide the use of oral antihistamines in children with upper airway allergic diseases.
Humans
;
Child
;
Histamine Antagonists/administration & dosage*
;
Administration, Oral
;
Consensus
;
Hypersensitivity/drug therapy*


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