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.Fourth national survey of traditional Chinese medicine resources and protection of traditional knowledge of medication use among ethnic minorities.
Jiang-Wei DU ; Xiao-Bo ZHANG ; Jian-Zhi CUI ; Shao-Hua YANG ; Hai-Tao LI ; Zhi-Yong LI ; Lu-Qi HUANG
China Journal of Chinese Materia Medica 2025;50(9):2349-2355
Traditional Chinese medicine(TCM) resources are the essential material foundation for the development of TCM. The national survey of TCM resources serves as a periodic summary of these resources, ensuring the continuity, prosperity, and development of TCM in China. Since 1949, four national surveys of TCM resources have been conducted. The fourth survey incorporated an investigation into traditional knowledge related to TCM resources, including the traditional medicinal knowledge of Chinese ethnic minorities, with the goal of systematically exploring, preserving, and inheriting this knowledge. This manuscript provides an overview of the basic findings from the first three national surveys of TCM resources, while also clarifying the concepts, categories, forms, carriers, and acquisition pathways of traditional knowledge related to TCM resources. A preliminary summary of the findings from traditional knowledge investigations reported in current literature is also presented. Based on the fourth survey, this manuscript emphasizes the urgency of developing public medical knowledge through empirically-based investigations, the excavation, and compilation of traditional knowledge. It also outlines the potential for conducting "precise" investigations based on first-hand data obtained from the survey, as well as facilitating the discovery and evaluation of new medicines using traditional knowledge related to ethnic minority medicinal practices. This manuscript is expected to provide valuable insights for promoting the health and industrial development of ethnic minority populations in the post-"survey" phase.
Humans
;
Medicine, Chinese Traditional
;
China/ethnology*
;
Minority Groups
;
Ethnicity
;
Drugs, Chinese Herbal/therapeutic use*
;
Health Knowledge, Attitudes, Practice/ethnology*
;
Surveys and Questionnaires
8.Expert consensus on evaluation index system construction for new traditional Chinese medicine(TCM) from TCM clinical practice in medical institutions.
Li LIU ; Lei ZHANG ; Wei-An YUAN ; Zhong-Qi YANG ; Jun-Hua ZHANG ; Bao-He WANG ; Si-Yuan HU ; Zu-Guang YE ; Ling HAN ; Yue-Hua ZHOU ; Zi-Feng YANG ; Rui GAO ; Ming YANG ; Ting WANG ; Jie-Lai XIA ; Shi-Shan YU ; Xiao-Hui FAN ; Hua HUA ; Jia HE ; Yin LU ; Zhong WANG ; Jin-Hui DOU ; Geng LI ; Yu DONG ; Hao YU ; Li-Ping QU ; Jian-Yuan TANG
China Journal of Chinese Materia Medica 2025;50(12):3474-3482
Medical institutions, with their clinical practice foundation and abundant human use experience data, have become important carriers for the inheritance and innovation of traditional Chinese medicine(TCM) and the "cradles" of the preparation of new TCM. To effectively promote the transformation of new TCM originating from the TCM clinical practice in medical institutions and establish an effective evaluation index system for the transformation of new TCM conforming to the characteristics of TCM, consensus experts adopted the literature research, questionnaire survey, Delphi method, etc. By focusing on the policy and technical evaluation of new TCM originating from the TCM clinical practice in medical institutions, a comprehensive evaluation from the dimensions of drug safety, efficacy, feasibility, and characteristic advantages was conducted, thus forming a comprehensive evaluation system with four primary indicators and 37 secondary indicators. The expert consensus reached aims to encourage medical institutions at all levels to continuously improve the high-quality research and development and transformation of new TCM originating from the TCM clinical practice in medical institutions and targeted at clinical needs, so as to provide a decision-making basis for the preparation, selection, cultivation, and transformation of new TCM for medical institutions, improve the development efficiency of new TCM, and precisely respond to the public medication needs.
Medicine, Chinese Traditional/standards*
;
Humans
;
Consensus
;
Drugs, Chinese Herbal/therapeutic use*
;
Surveys and Questionnaires
9.Materialistic values and their association with depression in medical postgraduates: materialism leads to higher risk of depression.
Journal of Southern Medical University 2025;45(6):1220-1225
OBJECTIVES:
To explore the values of materialism in medical postgraduates and its relationship with depression.
METHODS:
We conducted a survey among 592 postgraduates in clinical medicine using Materialism Tendency Scale (MTS) and Patient Health Questionnaire-9 (PHQ-9). Descriptive analysis, mean comparison, and correlation analysis were used for data analysis.
RESULTS:
The postgraduates had a mean total score of materialism of 56.36±10.44, and 11.8%, 54.1%, and 34.1% of them reported high, medium, and low levels of materialism, respectively. No significant differences were found in the total score of materialism among the postgraduates of different genders or with different family economic levels, but the postgraduates from urban families had a significantly higher level of materialism than those from rural families (P<0.001). 18.4% of the postgraduates screened positive for moderate to severe depressive symptoms. The total score of MTS was positively correlated with depression (r=0.289, P<0.001). The dimension scores of MTS for materialism obsessions, material vanity, material interest, and material pursuit were all positively correlated with depression (r=0.183-0.289, P<0.001). The depressive symptoms and their overall levels differed significantly among individuals with different levels of materialism, and higher levels of materialism were associated with severer depressive symptoms (F=18.792, P<0.001) and a higher positive rate of depression (χ2=27.528, P<0.001).
CONCLUSIONS
Materialistic values may increase the risk of depression among medical postgraduates.
Humans
;
Depression/epidemiology*
;
Surveys and Questionnaires
;
Female
;
Adult
;
Male
;
Middle Aged
;
Risk Factors
10.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*


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