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

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.

METHODS

A 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.

RESULTS

The 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

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.

OBJECTIVE

This 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.

METHODOLOGY

The 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.

RESULTS

Most 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).

CONCLUSION

The 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

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

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).

METHODOLOGY

It 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.

RESULTS

The 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

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

BACKGROUND AND OBJECTIVE

The Oswestry Disability Index (ODI)–English is a valid and reliable instrument for disability measurement in low back pain (LBP) patients. There is no existing ODI–Ilokano that evaluates LBP patients. This study aimed to cross-culturally adapt the ODI–English into Ilokano.

METHODS

The ODI–English was cross-culturally adapted into Ilokano through a process that included forward translation, synthesis of the translations, back translation, expert committee review, and testing of the pre-final version.

RESULTS

Forward translation focused on capturing the essence of terms related to pain intensity, personal care, and daily activities, achieving consensus on phrases that accurately mirrored the original English meanings. Subsequent synthesis refined these translations, emphasizing idiomatic and conceptual equivalence over literal interpretations, particularly in nuanced areas like sleep disturbance and social life activities. Backward translation processes aligned Ilokano and English terms, especially for pain intensity and personal care, ensuring consistency across languages. The expert committee review addressed spelling, word choice, and sentence structure, making strategic adjustments for cultural relevance. Pilot testing with participants from Ilocos Norte and Ilocos Sur, Philippines highlighted comprehension challenges with specific terms, leading to adaptations like replacing 'milya' and 'yarda' with metric units and retaining culturally sensitive terms with supplementary English explanations.

CONCLUSION

This study refined the ODI–English into a culturally adapted Ilokano version, focusing on semantic, idiomatic, and cultural equivalence. Incorporating pilot testing feedback, such as modifying measurement units and addressing sensitive terms, highlighted the thorough adaptation process. The collaborative translation efforts and diverse patient input ensured a culturally resonant ODI version for Ilokano speakers. This adaptation enhances physical therapy practices by improving patient assessments and advocates for adapting patient-reported outcomes to diverse cultures, advancing patient-centered care.

Human ; Low Back Pain ; Cross-cultural Comparison ; Translations ; Surveys And Questionnaires

BACKGROUND

Due to the COVID-19 outbreak, schools had to switch online. The sudden transition to blended teaching and learning (BTL) poses challenges for students and teachers, especially for health science programs that require hands-on practical experience. The validity, reliability, and responsiveness of these self-report questionnaires (SRQs) should be established to ensure the accuracy of the results as intended by the SRQ.

OBJECTIVES

This study critically appraised, compared, and summarized the psychometric properties of SRQ evaluating BTL among health science university students. This review determined the SRQ’s reliability, internal consistency, various forms of validity (content, criterion, construct), and responsiveness.

METHODS

Following a 10-step procedure based on COSMIN guidelines, we conducted a systematic review of SRQs used by health science university students to evaluate blended teaching and learning. Studies were eligible if they reported psychometric properties of SRQs related to blended learning among university health science students; exclusions included studies focusing on perceptions, attitudes, self-efficacy, and satisfaction, as well as articles such as biographies, editorials, and conference materials. Searches covered multiple electronic databases until April 26, 2023, including PubMed, EMBASE, Web of Science, MEDLINE (OVID), PsycInfo, CINAHL, EBSCOHOST, ERIC, Scopus, Science Direct, Google Scholar, JSTOR, Acta Medica Philippina, Philippine Journal of Health Research and Development, and HERDIN, managed through Zotero. Two independent reviewers performed database searches, title and abstract screening, and full-text evaluations, with a third reviewer resolving any disputes. The COSMIN Risk of Bias Checklist was employed to evaluate included studies on the development and various measurement properties of SRQs. The reviewers assessed SRQ standards, including validity, reliability, internal consistency, measurement error, responsiveness, interpretability, and feasibility. Data extraction and result tabulation were independently completed, with content comparison by two health education experts. This evaluation categorized the SRQs into three quality and validity levels.

RESULTS

The study examined five articles; four were rated as 'doubtful' and one as 'inadequate' in the overall development of SRQ. All four 'doubtful' studies demonstrated questionable content validity when university students were asked about the questionnaire's relevance, comprehensiveness, and comprehensibility. Only half of these studies achieved an 'adequate' rating for content validity based on expert opinions on relevance and comprehensiveness. All but one study scored from 'very good' to 'adequate' in structural validity. Three out of the four studies scored a very good rating for internal consistency, while one was deemed 'inadequate' in internal consistency, cross-cultural validity, and reliability. Three out of four studies scored 'very good' on construct validity, but all overlooked criterion validity and responsiveness. Conducted in various locations, including Australia, Romania, Turkey, and Taiwan, these studies highlighted both common characteristics and limitations in questionnaire development according to the COSMIN guidelines. Four studies were deemed reliable and valid for BTL constructs (Category A); Wu et al. requires further validation (Category B). Study limitations included heterogeneity in populations, settings, and questionnaire versions, potential subjective bias in SRQ content comparison, and the evolving nature of SRQs in blended learning contexts.

CONCLUSION

The systematic review reports the development and evaluation of SRQs for BTL while identifying gaps in their applicability to health science programs. The Blended Learning Scale (BLS) of Lazar et al. and the Blended Learning Questionnaire (BLQ) of Ballouk et al. showed an ‘adequate' rating for content validity. BLS revealed very good structural validity, internal consistency, and adequate content validation. Although the BLQ lacked Confirmatory Factor Analysis, it yielded valuable constructs for evaluating health sciences students' experiences in BTL. Both tools require improvements on recall period, completion time, interpretability, and feasibility. The review underscores the necessity for cont inuous assessment and enhancement of such instruments in BTL, advocating a rigorous scale development process. Furthermore, it encourages the customization of teaching and learning evaluation tools to suit specific institutional contexts while promoting further validation of these questionnaires across different populations in future research.

Human ; Psychometrics ; Checklist ; Self Report ; Universities ; Health Education

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*

OBJECTIVE: To investigate the load distribution on the more painful and less painful limbs in patients with mild-to-moderate and severe bilateral knee osteoarthritis (KOA) and explore the compensatory mechanisms in both limbs among bilateral KOA patients with different severity levels. METHODS: A total of 113 participants were enrolled between July 2022 and September 2023. This cohort comprised 43 patients with mild-to-moderate bilateral KOA (Kellgren-Lawrence grade 2-3), 43 patients with severe bilateral KOA (Kellgren-Lawrence grade 4), and 27 healthy volunteers (healthy control group). The visual analogue scale (VAS) score for pain, the Hospital for Special Surgery (HSS) score, passive knee range of motion (ROM), and hip-knee-ankle angle (HKA) were used to assess walking pain intensity, joint function, and lower limb alignment in KOA patients, respectively. Motion trajectories of reflective markers and ground reaction force data during walking were captured using a gait analysis system. Musculoskeletal modeling was then employed to calculate biomechanical parameters, including the peak knee adduction moment (KAM), KAM impulse, peak joint contact force (JCF), and peak medial/lateral contact forces (MCF/LCF). Statistical analyses were performed to compare differences in clinical and gait parameters between bilateral limbs. Additionally, one-dimensional statistical parametric mapping was utilized to analyze temporal gait data. RESULTS: Mild-to-moderate KOA patients showed the significantly higher HSS score (67.7±7.9) than severe KOA patients (51.9±8.9; t=8.747, P<0.001). The more painful limb in all KOA patients exhibited significantly greater HKA and higher VAS scores compared to the less painful limb ( P<0.05). While bilateral knee ROM did not differ significantly in mild-to-moderate KOA patients ( P>0.05), the severe KOA patients had significantly reduced ROM in the more painful limb versus the less painful limb ( P<0.05). Healthy controls showed no significant bilateral difference in any biomechanical parameters ( P>0.05). All KOA patients demonstrated longer stance time on the less painful limb ( P<0.05). Critically, severe KOA patients exhibited significantly higher peak KAM, KAM impulse, and peak MCF in the more painful limb ( P<0.05), while mild-to-moderate KOA patients showed the opposite pattern with lower peak KAM and KAM impulse in the more painful limb ( P<0.05) and a similar trend for peak MCF. CONCLUSION Patients with mild-to-moderate KOA effectively reduce load on the more painful limb through compensatory mechanisms in the less painful limb. Conversely, severe bilateral varus deformities in advanced KOA patients nullify compensatory capacity in the less painful limb, paradoxically increasing load on the more painful limb. This dichotomy necessitates personalized management strategies tailored to disease severity.
Humans ; Osteoarthritis, Knee/physiopathology* ; Range of Motion, Articular ; Male ; Female ; Middle Aged ; Biomechanical Phenomena ; Knee Joint/physiopathology* ; Pain Measurement ; Severity of Illness Index ; Aged ; Gait/physiology* ; Walking/physiology* ; Case-Control Studies ; Adult ; Weight-Bearing