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.Comparison of Longer and Shorter Hemodialysis Duration on Nutritional Status and Quality of Life of Hemodialysis Patients
Nur Samsu ; Devi Santi Fatmawati ; Farida Wibisono ; Kartin Kartin ; Wahyu Wulandari ; Ayu Radyan Sephani ; Renny Tandya ; Angelina Gemilang Kartikasari Kosasih
Acta Medica Indonesiana 2026;58(1):15-25
Abstract
Background: Important determinants of dialysis adequacy are blood flow rate (BFR) and dialysis time. This study aimed to evaluate the impact of BFR and duration of dialysis session on nutritional status and quality of life (QoL) in hemodialysis (HD) patients. Methods: Real-world evidence studies (RWE) of 3 HD units that differ in BFR and/or dialysis time. Group I, HD 5 hours and BFR 200-250 mL/minute; group II, HD 4 hours and BFR 270-320 mL/minute, and group III, HD 4 hours and BFR 200-250 mL/minute. All HD units use the same dialysate flow and dialysis frequency. The 3-point Subjective Global Assessment (SGA) scale is used to assess nutritional status, while QOL is assessed using the SF-36. Results: There were 291 chronic HD patients with an average age of 51 (12.3) years, 50.5% were male. The proportion of SGA classes between groups did not differ significantly. Group I was associated with significantly higher PF and RP domain scores of PC and VT domain scores of MC compared to Group III. On the other hand, Group II was associated with significantly lower VT and MH domain scores of MC compared to Group I, while the other domains were not significantly different. In general, Group III had the lowest SF-36 scores compared to the other 2 groups. Conclusion: Duration of HD was not associated with nutritional status. Compared with 4-hour HD but with a faster BFR, 5-hour HD was associated with higher Mental Component QOL scores, but not Physical Component scores.
subjective global assessment
;
SF-36 questionnaire
;
blood flow rate
;
dialysis time
7.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
8.Observation of the efficacy of dupilumab for treatment of atopic dermatitis in the elderly.
Ran SUN ; Yuhao WU ; Mei DI ; Xiaoyang WANG
Journal of Peking University(Health Sciences) 2025;57(2):298-302
OBJECTIVE:
To evaluate the efficacy and safety of dupilumab in the treatment of atopic dermatitis in the elderly.
METHODS:
In this study, elderly patients with atopic dermatitis treated with dupilumab for at least 16 weeks in the Department of Dermatology and Venereology of Beijing Anzhen Hospital from January 2021 to October 2023 were retrospectively collected. Clinical indicators were compared before, during and after treatment, including pruritus numerical rating score (PNRS), eczema area and severity index (EASI), dermatology life quality index (DLQI) score, and the incidence of adverse events was recorded. The expression of interferon γ (IFN-γ), interleukin-4 (IL-4) and interleukin-6 (IL-6) in peripheral blood were compared before treatment and after 16 weeks of treatment.
RESULTS:
A total of 90 elder patients with atopic dermatitis were included, EASI, PNRS and DLQI scores all showed a gradual downward trend during the treatment period, which was manifested as a rapid decline in the first 4 weeks after starting treatment, and then the decline gradually leveled off. The results of point-to-point comparison showed that EASI, PNRS and DLQI scores in 4 weeks after treatment were significantly lower than those before treatment (P < 0.001); In the 16th week after treatment, the scores of the above therapeutic indicators were further reduced, and the difference was statistically significant compared with the 4th week (P < 0.01); The EASI score was significantly lower at each time point than the previous time point, indicating that the patients' skin lesions continued to improve significantly. The overall efficacy of dupliumab was evaluated. After 4 weeks of treatment, 62.89% of patients achieved EASI-50 (EASI score decreased by ≥50%), and 74.4% of patients' DLQI score decreased by ≥4 points. After 16 weeks of treatment, 57.8% of the patients achieved EASI-75, 32.2% achieved EASI-90, and the PNRS and DLQI scores of all the patients decreased by ≥4 points. After 16 weeks of treatment, the expression levels of IL-4 and IL-6 were (31.62±6.23) ng/L and (14.36±2.25) ng/L, respectively, which were significantly lower than those before treatment (P < 0.001), and the expression level of IFN-γ was (15.37±3.14) ng/L, which was higher than before treatment (P < 0.001).The main adverse reactions were conjunctivitis (2 cases), injection site reaction (3 cases) and multiple bacterial folliculitis of the back (2 cases), which could be alleviated by symptomatic treatment, and no serious adverse reactions occurred.
CONCLUSION
Dupilumab has shown good efficacy in the treatment of elderly atopic dermatitis, which can effectively improve clinical symptoms such as itching and skin lesions, improve the quality of life of patients, and no serious adverse reactions occurred during treatment, so it is safe and worthy of clinical promotion.
Humans
;
Dermatitis, Atopic/blood*
;
Antibodies, Monoclonal, Humanized/adverse effects*
;
Aged
;
Male
;
Female
;
Interleukin-4/blood*
;
Retrospective Studies
;
Quality of Life
;
Interleukin-6/blood*
;
Interferon-gamma/blood*
;
Middle Aged
;
Treatment Outcome
;
Severity of Illness Index
9.Current status and influencing factors of kinesiophobia in patients with lumbar disc herniation after lumbar fusion surgery.
Lianlian CHEN ; Zhangying CAI ; Linna YE ; Jie LI
Journal of Peking University(Health Sciences) 2025;57(2):317-322
OBJECTIVE:
To investigate the current status of kinesiophobia after lumbar fusion surgery in patients with lumbar disc herniation (LDH) and to analyze its influencing factors.
METHODS:
A total of 489 LDH patients who underwent lumbar fusion surgery in our hospital from January 2021 to December 2022 and effectively filled out the tampa scale for kinesiophobia (TSK) and other questionnaires on the first day after surgery were collected as the study subjects, the current status of kinesiophobia in LDH patients after lumbar fusion surgery were investigated using the TSK. The LDH patients were grouped into a kinesiophobia group (n=221) and a non kinesiophobia group (n=268) based on whether there was kinesiophobia after lumbar fusion surgery. The self-designed general data questionnaires were used to collect data, and Logistic regression was applied to analyze independent risk factors for kinesiophobia after lumbar fusion surgery in the LDH patients.
RESULTS:
In the study, 221 out of the 489 LDH patients (45.19%) had kinesiophobia after lumbar fusion surgery. Univariate analysis showed that there were statistically significant differences between the phobic group and the non phobic group in terms of gender, education level, course of disease, whether there was hypoproteinemia, pain level, self-efficacy, social support, whether there was anxiety, and whether there was depression (P < 0.05). There were no statistically significant differences in terms of age, body mass index, monthly family income, marital status, residence, medical expense payment form, whether there was hypertension, whether there was diabetes, whether there was cardiovascular and cerebrovascular disease, whether there was respiratory disease, whether there was surgery experience, whether there was anemia, work conditions, and responsibility segments (P>0.05). Male (95%CI: 3.289-10.586, P < 0.001), education level below undergraduate level (95%CI: 6.533-45.162, P < 0.001), severe pain (95%CI: 10.348-72.025, P < 0.001), moderate pain (95%CI: 6.247-37.787, P < 0.001), low self-efficacy (95%CI: 4.238-15.095, P < 0.001), and medium self-efficacy (95%CI: 2.804-8.643, P < 0.001) were influencing factors for kinesiophobia after lumbar fusion surgery in the patients with LDH (P < 0.05).
CONCLUSION
The incidence of kinesiophobia after lumbar fusion surgery in patients with LDH is high, and its influencing factors include gender, education level, pain level, and self-efficacy.
Humans
;
Spinal Fusion/psychology*
;
Intervertebral Disc Displacement/psychology*
;
Lumbar Vertebrae/surgery*
;
Male
;
Female
;
Middle Aged
;
Phobic Disorders/etiology*
;
Surveys and Questionnaires
;
Adult
;
Risk Factors
;
Aged
;
Fear
;
Kinesiophobia
10.Association of urinary cadmium and arsenic with gynecological cancers: Results from NHANES 2003-2018.
Yuanna JIANG ; Jie WANG ; Zhouxiao HE ; Xuanang XIANG ; Ruichen YANG ; Qian WANG ; Lanqin CAO
Journal of Central South University(Medical Sciences) 2025;50(1):23-35
OBJECTIVES:
Previous studies have demonstrated that the metals cadmium and arsenic exhibit estrogen-like effects and may influence the occurrence and development of gynecological tumors. This study aims to explore the association between urinary cadmium and arsenic levels and the prevalence of gynecologic cancers using data from the National Health and Nutrition Examination Survey (NHANES).
METHODS:
Data from female participants in NHANES 2003-2018 were analyzed. Using R software, datasets (DEMO, BMX, etc.) were merged, and complete cases were retained by intersecting row names, yielding a total of 2 999 participants. After applying strict exclusion criteria, 2 802 participants were included: 83 with gynecologic cancer (cancer group) and 2 719 without (control group). Demographic, reproductive health, and urinary cadmium and arsenic data were collected. Binary Logistic regression models were employed to assess associations between urinary cadmium and arsenic levels and gynecologic cancer risk.
RESULTS:
High urinary cadmium and arsenic levels were risk factors for gynecologic cancers, with odds ratios (ORs) of 1.623 (95% CI 1.217 to 2.166) and 1.003 (95% CI 1.001 to 1.005), respectively. After propensity score matching (PSM), the trend remained; cadmium was still a statistically significant risk factor with an OR of 2.182 (95% CI 1.343 to 3.545), while arsenic's association, though not statistically significant, still trended toward risk (OR=1.004, 95% CI 0.999 to 1.009). Subgroup analyses showed that both cadmium and arsenic were risk factors for ovarian cancer (OR=1.745, 95% CI 1.178 to 2.586 and OR=1.005, 95% CI 1.002 to 1.008, respectively); these associations persisted after PSM. Additionally, cadmium increased the risk of endometrial cancer (OR=1.617, 95% CI 1.109 to 2.356).
CONCLUSIONS
Exposure to cadmium and arsenic is associated with an increased risk of ovarian and endometrial cancers. These findings suggest that reducing environmental exposure to heavy metals such as cadmium and arsenic may help prevent certain gynecologic cancers.
Humans
;
Female
;
Cadmium/urine*
;
Arsenic/urine*
;
Genital Neoplasms, Female/urine*
;
Middle Aged
;
Nutrition Surveys
;
Adult
;
Risk Factors
;
Environmental Exposure/adverse effects*
;
Aged


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