1.Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training.
Xiaoju HUANG ; Lin HAN ; Li CAO ; Taosheng HUANG ; Duan MA ; Jian WANG ; Wenjuan QIU ; Fanyi ZENG ; Luming SUN ; Chenming XU ; Songchang CHEN ; Xinyu KUANG ; Hong TIAN
Chinese Journal of Medical Genetics 2026;43(4):241-247
OBJECTIVE:
To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists.
METHODS:
By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements.
RESULTS:
The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development.
CONCLUSION
Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans
;
China
;
Surveys and Questionnaires
;
Genetic Diseases, Inborn/genetics*
;
Cross-Sectional Studies
;
Genetics, Medical/education*
;
Genetic Testing
2.Screening and management of bladder and bowel dysfunction among toilet trained children in a general pediatric outpatient clinic of a Tertiary Hospital using standard urotherapy: Prospective interventional study.
Melanie O. UY MATIAO ; Maria Rosario F. CABANSAG ; Remedios D. CHAN ; Maria Margarita M. ROMANO ; Jemely M. PUNZALAN ; Dennis FLORES ; David C T. BOLONG
Journal of Medicine University of Santo Tomas 2026;10(1):1862-1872
OBJECTIVES
This study determined the prevalence of BBD among toilet-trained children attending a tertiary hospital’s pediatric outpatient clinic, and to evaluate the effectiveness of standard urotherapy among affected children.
METHODSA prospective interventional study was conducted among 144 toilet-trained children aged 7 to 12 years seen at the University of Santo Tomas Hospital outpatient clinic from August 2025 to September 2025. Sociodemographic data were collected, and BBD was screened using the validated Filipino version of the Dysfunctional Voiding Symptom Scores (DVSS) questionnaire. Children with BBD underwent standard urotherapy, which included behavioral and lifestyle interventions such as timed voiding, adequate hydration, constipation management and proper voiding posture. DVSS assessments were repeated at two and four weeks.
RESULTSThe overall prevalence of BBD was 22.9% (33 of 144). BBD was significantly more prevalent among females (31.88%) than males (14.67%) (adjusted OR = 2.96, 95% CI: 1.28–6.86; p = 0.011). At baseline, children with BBD had significantly higher mean total DVSS scores (9.15 ± 3.64) compared to those without (2.01 ± 1.80, pCONCLUSION
Standard urotherapy proved effective in reducing symptom scores within two weeks and resulted in complete clinical resolution after four weeks among those who continued therapy. Routine screenings for BBD using DVSS and early initiation of standard urotherapy in pediatric outpatient settings are recommended to prevent complications and improve children’s urinary and bowel health.
Human ; Child: 6-12 Yrs Old ; World Health Organization ; Outpatient Clinics, Hospital ; Mass Screening ; Tertiary Care Centers ; Constipation ; Ambulatory Care Facilities
3.Translation and validation of the Filipino version of the knowledge, attitudes and practices questionnaire on personal antibiotic use (KAPQ-PAU-FIL): Potential utility in public health programs in the Philippines.
Maxine Francesco Gwyneth C. BACULO ; Samantha Nicole L. BABAO ; Francesca Anne I. BANDARLIPE ; Fitz Cornelius I. BANEZ ; Evelyn SIAO-BRIGINO ; Wennielyn F. FAJILAN ; Roberto D. AMPIL ; Marvin M. ZAPICO ; Maria Rosario R. ARANDA ; Rosalyn G. MIRASOL ; Ivan Neil B. GOMEZ
Journal of Medicine University of Santo Tomas 2026;10(1):1883-1894
INRODUCTION
The growing misuse of antibiotics and the escalating threat of antibiotic resistance in the Philippines pose significant public health concerns. While various Knowledge, Attitudes and Practices (KAP) questionnaires on personal antibiotic use have been employed in local studies, none have been fully validated and a standardized, culturally appropriate tool remains lacking.
OBJECTIVEThis study aims to develop a Filipino-translated and culturally adapted KAP questionnaire on personal antibiotic use (KAPQ-PAU-FIL) and evaluate its validity and reliability.
METHODOLOGYThe research consisted of two phases. The first phase is the translation and cross-cultural adaptation of the original questionnaire in collaboration with the UST Sentro sa Salin at Araling Salin. The second phase is the validity and reliability testing of the KAPQ-PAU-FIL using a sample of 176 Filipino adults. This included assessment of its face validity, content validity, construct validity, internal consistency, test-retest reliability and equivalent forms reliability.
RESULTSMost items were translated without difficulty, though four items were modified to better fit the linguistic and cultural context. The KAPQ-PAU-FIL demonstrates strong psychometric properties, with face validity (SFVI/Ave = 0.99), content validity (SCVI/Ave = 0.99), construct validity (CFI = 0.92, RMSEA = 0.06, SRMR = 0.04; FL = 0.60-0.85; ITC = 0.58-0.71), test-retest reliability (ICC = 0.83), internal consistency (α = 0.929) and equivalent forms reliability (p>0.05; κ = 0.62-0.74).
CONCLUSIONThe KAPQ-PAU-FIL is the first ever, Filipino-translated, culturally adapted questionnaire designed to assess KAPQ-PAU-FIL, demonstrating strong validity and reliability to support public health programs against antibiotic misuse.
Surveys And Questionnaires ; Public Health ; Knowledge ; Anti-bacterial Agents ; Philippines ; Program
4.Knowledge, attitude and practice on sexually transmitted infections among men and women aged 15-24 years old in Sampaloc, Manila.
Heinze Joseph L. LOPEZ ; Kent Aldrin V. LUZARRAGA ; Christian Rafael B. LORENZO ; Paolo Jose A. LORENZO ; Yannah Mae F. LOYOLA ; Ann Danelle A. LUCERO ; Abbygale R. LUMANGLAS ; Gelza Mae ZABAT ; Jayron PADUA ; Maria Elizabeth P. MERCADO
Journal of Medicine University of Santo Tomas 2026;10(1):1904-1912
In the Philippines, the rate of sexually transmitted infections (STIs) remains high, and statistics show that the highest prevalence is among individuals between the ages of 15 and 24 years old. Unlike Human Immunodeficiency Virus (HIV), other common STIs, such as gonorrhea, syphilis, HPV and herpes are not well discussed.
A descriptive cross-sectional study was conducted to determine the knowledge, awareness and misconceptions of STIs and their practices among men and women aged 15-24 in Sampaloc, Manila. Convenience sampling was conducted among 15- to 24-year-old residents from Barangay 466, excluding healthcare professionals. Sets of questions were adapted from other knowledge, attitudes and practices (KAP) research studies and underwent cross-cultural validation. Questions were also translated and validated into the Filipino language. Data gathering was conducted using self-administered surveys disseminated through online posting and in-community, as well as face-to-face recruitment.
Among the 104 respondents, HIV remained the most recognized STI (99%), while less than half were aware that chlamydia and hepatitis B are STIs. The most common misconception about STI transmission includes the sharing of food and drinks. In terms of prevention, more than half of the participants believed that oral contraceptive pills can prevent STIs. With regards to attitude, 43.3% of the participants disagreed that watching/reading pornographic materials can contribute to risky sexual practices. Among sexually active participants, 19% do not use condoms, and 65% of them do not get tested annually.
In conclusion, the findings from this study reveal a concerning gap in KAP related to STIs among participants aged 15-24 Filipinos. It is recommended that efforts should be directed towards targeted education campaigns and interventions to empower young individuals with accurate information and foster a responsible approach to sexual health.
Human ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Surveys And Questionnaires ; Sexually Transmitted Diseases ; Residence Characteristics ; Cross-sectional Studies ; Reproductive Health
5.Validation of the american diabetes association risk screening form in a Tertiary Government Hospital employees.
Francis P. BESAS ; Monikka PASAWA
Philippine Journal of Internal Medicine 2026;64(1):33-42
BACKGROUND
This study was inspired by the increasing cases of Diabetes Mellitus II (DM II) and the drive to strengthen early detection and intervention. The study specifically examined the American Diabetes Association (ADA) Risk Screening Form to detect DM and its potential as a cost-effective alternative to the standard screening criteria using Fasting Plasma Glucose (FPG) and 2-hour Oral Glucose Tolerance Test (OGTT).
METHODOLOGYIt utilized observational, cross sectional, descriptive, comparative design conducted among 269 hospital employees in a tertiary hospital. All participants were examined using the ADA Risk Screening Form and underwent standard test of FPG and 2-hour OGTT. Mean and standard deviation, frequency and percentage, and Mann-Whitney test were used in the treatment of data.
RESULTSThe clinicodemographic profile of the employees showed that most of the personnel belonged to age old (66.5%). Among the employees, 159 were females (66.5%) and 110 were males (59.1%). Additionally, most of the
personnel do not have hypertension (73.2%) and are physically active (56.1%) however most were noted to be overweight
(48.3%) and have family history of diabetes (45%). Furthermore, majority of the females did not have a history of gestational
diabetes mellitus (37.2%). The results revealed that most of the personnel were identified under decreased risk using the
ADA screening form and are non-diabetic (79.18%) using the laboratory test, whereas those pre-diabetic and diabetic
accounted 13.38% and 7.43% respectively. The results showed sensitivity of ADA Risk Screening Tool for DM Type 2
alongside the results of FPG and OGTT 30.4 and 25.7 respectively, specificity (87.3, 87.7), positive predictive value (38.6,
44.2), negative predictive value (82.7, 75.7), and accuracy (75.5, 70.6). Lastly, the results revealed that the use of ADA
screening tool showed no difference with the use of FPG with p-value of 0.095 and OGTT with p-value of 0.118.
Human ; Male ; Female ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Association ; Form ; Government ; Hospitals ; Mass Screening ; Occupational Groups ; Risk
6.The Validity and Reliability of the Indonesian Version of Post-Intensive Care Syndrome Questionnaire (PICSQ) for Intensive Care Unit Survivors
Peggy Sunarjo ; Luh Karunia Wahyuni ; Dita Aditianingsih ; Retno Asti Werdhani ; Kristiana Siste Kurniasanti ; Wisnu Ananta Kusuma ; Anitta Florence Stans Paulus ; Mellisya Ramadhany ; Widjajalaksmi Kusumaningsih
Acta Medica Indonesiana 2026;58(1):32-43
Abstract
Background: Post-Intensive Care Syndrome (PICS) encompasses cognitive, motor, and mental impairments persisting for years in ICU survivors. Despite its significance, the prevalence of PICS in Indonesia remains uncertain due to limited research and a lack of validated measurement tools. This study aims to translate and validate the PICS Questionnaire for use among ICU survivors in Indonesia. Methods: The study followed a two-phase approach: translation and evaluation. The translation phase adhered to the 10-step process of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) guidelines. The analysis phase involved 184 subjects, using Confirmatory Factor Analysis (CFA) for validation and Cronbach's α and Intraclass Correlation Coefficient (ICC) for reliability testing. Results: The CFA reported factor loadings (λ >0.40) for each item in its relevant domain. Fit index values indicated a good-to-acceptable fit. Internal reliability was high for the mental, physical, and cognitive domains (0.812 vs. 0.779 vs. 0.855), with Cronbach's α of > 0.70. Test-retest reliability and ICC demonstrated dependable results (>0.70) for each domain. Conclusion: The translated and validated Indonesian PICS Questionnaire demonstrates good validity and reliability. This tool will enable healthcare professionals to assess PICS among ICU survivors in Indonesia and facilitate further research on its prevalence and impact on quality of life.
Intensive Care Unit
;
Quality of Life
;
Surveys and Questionnaires
;
Factor Analysis
;
Statistical
;
Indonesia
7.Indonesian client satisfaction questionnaire-18 for evaluating AI-assisted diabetic retinopathy screening in primary care: reliability and patient satisfaction
Yeni Dwi Lestari ; Ratna Sitompul ; Indah Suci Widyahening ; Dicky Levenus Tahapary ; Prasandhya Astagiri Yusuf ; Muhammad Bayu Sasongko ; Pandu Riono ; Gratcheva Alexandra ; Aritha Wulan ; Handhika Dhio ; Saleha Sungkar ; Clifford Attkisson
Medical Journal of Indonesia 2026;35(2):133-140
BACKGROUND :
Diabetic retinopathy (DR) is a leading cause of preventable blindness. However, Indonesia lacks a comprehensive screening program. Artificial intelligence (AI)-assisted screening in primary health care (PHC) is a promising solution. Patient satisfaction is crucial for ensuring the participation and sustainability of such programs. This study aimed to adapt Indonesian version of evaluate client satisfaction questionnaire-18 (CSQ-18) and evaluate its acceptability.
METHODS :
This study was conducted from August 5–29, 2024 at 2 public PHCs in Jakarta. Patients with diabetes underwent DR screening, which included fundus photography and an AI-based grading system (RADR). Referable cases were graded secondarily by ophthalmologists. Satisfaction was assessed from November 10–20, 2024 using the Indonesian-translated CSQ-18, adapted through forward-backward translation, expert review, and pilot testing. Reliability was assessed using Cronbach’s alpha, validity was evaluated using Pearson’s correlation, and satisfaction scores were summarized as descriptive statistics.
RESULTS :
Of 300 selected participants, 216 completed telephone or in-person interviews. The Indonesian CSQ-18 demonstrated a strong internal consistency (Cronbach’s alpha = 0.886). All items showed acceptable item-total correlations. The mean (SD) satisfaction score was 60.19 (5.50) of 72, with a median of 59, indicating high patient satisfaction. Most participants expressed positive perceptions of screening duration, accessibility, and provider competence, although awareness-related items scored slightly lower. Potential interviewer bias and nonresponse may have affected the findings.
CONCLUSIONS
The Indonesian CSQ-18 is a reliable tool for assessing patient satisfaction with DR screening. These findings confirm the feasibility and acceptability of AI-assisted DR screening at the PHC level, supporting its potential for broader implementation in Indonesia.
artificial intelligence
;
diabetic retinopathy
;
patient satisfaction
;
primary health care
;
surveys and questionnaires
8.Cultural adaptation and validation of the Indonesian version of Composite Autonomic Symptom Score-31
Widya Christine Manus ; Lothar Matheus Manson Vanende Silalahi ; Lise Insani Gulo ; The Maria Meiwati Widagdo
Medical Journal of Indonesia 2026;35(3):195-200
BACKGROUND :
The prevalence of autonomic nervous system disorders is increasing due to the complications of chronic illnesses that become more severe with age. The Composite Autonomic Symptom Score-31 (COMPASS-31) is a questionnaire that assesses autonomic function and has been utilized globally. This study aimed to conduct cultural adaptation and validation of the COMPASS-31 in Indonesia, particularly for the elderly.
METHODS :
This cross-sectional study involved elderly individuals aged 60 years and older. The process included translation, cultural adaptation, back-translation, and reliability tests. The COMPASS-31 questionnaire was translated from English to Indonesian by a certified translator, a native Indonesian speaker without medical background. A panel of experts comprising a neurologist, a gerontologist, and a physiologist discussed the translated questionnaire and made cultural adaptations. Facial and content validity tests were conducted on 11 elderly individuals. The inputs for revision are discussed by the expert panel. The questionnaire was then back-translated into English by a native English speaker, professional translator, without a medical background. The questionnaire was checked for reliability in 52 elderly subjects. Reliability testing was conducted separately for the binomial and polynomial questions of the COMPASS-31 questionnaire.
RESULTS :
The reliability test yielded a Cronbach’s alpha of 0.729 for the binomial questions and 0.722 for the polynomial questions, indicating high reliability.
CONCLUSIONS
The Indonesian version of COMPASS-31 questionnaire is a valid and reliable symptom assessment tool for use in the elderly.
aging
;
autonomic disorders
;
autonomic nervous system diseases
;
surveys and questionnaires
9.Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders.
Wei ZHOU ; Huizhong LI ; Li YANG ; Fang SHAO ; Maosheng GU
Chinese Journal of Medical Genetics 2025;42(1):26-33
OBJECTIVE:
To explore the results of four types of Urea cycle disorders (UCDs) in newborns from the Xuzhou region, assess the efficacy of newborn screening by tandem mass spectrometry (MS/MS), and analyze their genetic characteristics.
METHODS:
A retrospective analysis was performed using tandem mass spectrometry to screen for inherited metabolic disorders in 691 712 newborns at the Maternal and Child Health Care Hospital of Xuzhou from November 2015 to December 2023. Ten children (cases 1-10) were diagnosed with Ornithine transcarbamylase deficiency (OTCD), Carbamoylphosphate synthase 1 deficiency (CPS1D), Arginase deficiency (ARGD), and Argininosuccinate synthase deficiency (ASSD) based on MS/MS and genetic testing. This study was approved by the Medical Ethics Committee of Xuzhou Maternity and Child Health Care Hospital (Ethics No.XZFY2024-051K-01J).
RESULTS:
A total of 691 712 neonates were screened for UCDs using MS/MS, which identified 1 237, 1 237, 510, and 1 009 initial positive cases for OTCD, CPS1D, ASSD, and ARGD, respectively. After genetic testing, 1 case of OTCD, 1 case of CPS1D, 1 case of ASSD, and 7 cases of ARGD were confirmed. The overall positive predictive value for these four UCDs was 0.362%. Among the 10 diagnosed UCD cases, four novel variants were identified, which included OTC: c.1024C>A (p.L342M) and ASS1: c.826A>G (p.M276V), c.695C>T (p.P232L) and c.694C>T (p.P232S). Bioinformatic analysis has rated these as variants of uncertain clinical significance or likely pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG).
CONCLUSION
The incidence of four UCDs in neonates from the Xuzhou area is relatively low, and there is a correlation between genetic variants and clinical phenotypes. For novel variants with uncertain clinical significance or suspected pathogenicity, their pathogenicity should be clarified in conjunction with clinical and biochemical indicators. The four novel pathogenic variants of UCDs identified in this study have enriched the mutational spectrum of UCDs-associated genes in the Xuzhou region.
Humans
;
Infant, Newborn
;
Tandem Mass Spectrometry/methods*
;
Urea Cycle Disorders, Inborn/diagnosis*
;
Neonatal Screening/methods*
;
Genetic Testing/methods*
;
Female
;
Retrospective Studies
;
Male
;
Ornithine Carbamoyltransferase Deficiency Disease/diagnosis*
;
Mutation
;
Carbamoyl-Phosphate Synthase (Ammonia)/genetics*
;
Ornithine Carbamoyltransferase/genetics*
10.How are different traditional Chinese medicine modalities deployed by clinical practitioners in China? Findings from a national survey.
Ran GUO ; Dian ZENG ; Qi ZHAO ; Xin-Yi ZHANG ; Xiao-Ke ZHANG ; Yuan-Li LIU
Journal of Integrative Medicine 2025;23(1):36-45
OBJECTIVE:
Traditional Chinese medicine (TCM) incorporates traditional diagnostic methods and several major treatment modalities including Chinese herbal medicine, Chinese patent medicine, and non-pharmacological methods such as acupuncture and tuina. Even though TCM is used daily by more than 70,000 healthcare facilities and over 700,000 clinical practitioners in China, there is a poor understanding of the extent to which TCM diagnostic methods are used, how different treatment modalities are deployed in general, and what major factors may affect the integration of TCM and Western medicine. This study aimed to fill this void in the literature.
METHODS:
In the 2021 National Healthcare Improvement Evaluation Survey, we included three questions gauging the perception and practices of TCM amongst physicians working in TCM-related facilities, investigating the frequency of their deployment of TCM diagnostic methods, and predominant TCM treatment methods. Our empirical analysis included descriptive statistics, intergroup chi-square analysis, and binary logistic regression to examine the association between different types of facilities and individual characteristics and TCM utilization patterns.
RESULTS:
A total of 7618 clinical physicians comprised our study sample. Among them, 84.27% have integrated TCM and Western medicine in their clinical practice, and 80.77% of TCM practitioners used the 4 diagnostic methods as a tool in their clinical practice. Chinese herbal medicine was the most widely utilized modality by Chinese TCM physicians (used by 88.49% of respondents), compared with the Chinese patent medicine and non-pharmacological TCM methods, which were used by 73.14%, and 69.39%, respectively. Herbal tea as an out-of-pocket health-maintenance intervention is also a notable practice, recommended by 29.43% of physicians. Significant variations exist across certain institutions, departments, and individual practitioners.
CONCLUSION
Given that most of the surveyed physicians integrated TCM with Western medicine in their clinical practices, the practice of "pure TCM" appears to be obsolete in China's tertiary healthcare institutions. Notably, remarkable variation exists in the use of different TCM modalities across institutions and among individuals, which might be related to and thus limited by the practitioners' experience. Future research focusing on the efficacy and safety of TCM interventions for specific diseases, the development of standardized clinical guidelines, and the enhancement of TCM education and training are called for to optimize TCM-Western medicine integration. Please cite this article as: Guo R, Zeng D, Zhao Q, Zhang XY, Zhang XK, Liu YL. How are different traditional Chinese medicine modalities deployed by clinical practitioners in China? Findings from a national survey. J Integr Med. 2025; 23(1): 36-45.
Medicine, Chinese Traditional/statistics & numerical data*
;
Humans
;
China
;
Surveys and Questionnaires
;
Female
;
Male
;
Physicians/statistics & numerical data*
;
Practice Patterns, Physicians'/statistics & numerical data*
;
Adult
;
Middle Aged


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