OBJECTIVE: To investigate the genetic mechanism for adverse pregnancies due to submicroscopic chromosomal structural variants in two cases, and to provide a precise guidance for preimplantation genetic testing. METHODS: Two families who had visited Chengdu Women's and Children's Central Hospital for reproduction guidance due to recurrent miscarriages, adverse pregnancy history and abnormal genetic testing of the offspring in June and December 2023 were selected as the study subjects. Chromosomal karyotyping and optical genome mapping (OGM) were carried out on peripheral blood samples from the two couples, and preimplantation genetic testing for structural rearrangement (PGT-SR) were performed on the blastocyst trophoblasts. This study was approved by the Medical Ethics Committee of the Hospital (Ethic No.: 2023-23). RESULTS: No abnormality was found on the G-banded karyotyping analysis for both couples. The OGM results revealed that the female partner of couple 1 had a translocation between 4pter-p16.3 (3.99 Mb) and 11pter-p15.4 (2.66 Mb), whilst no abnormality was found in the male partner. Similarly, the male partner of couple 2 had a translocation between 19q13.43-qter (1.90 Mb) and 22q13.31-qter (3.34 Mb). No abnormality was found in the female partner of couple 2. Neither breakpoints nor the adjacent region had involved an OMIM gene, except the formation of a fusion gene ZIM2-AS1-Z82186.1 (Both genes are non-coding, and the fusion gene was deemed as variant of unknown significance). PGT-SR of 11 blastocysts derived from couple 1 revealed that one embryo was suitable for priority transfer, three embryos were suitable for transfer, one embryo was recommended for genetic counselling, and six embryos were unsuitable for the transfer. For couple 2, six blastocysts were tested, of which only one embryo was deemed suitable for transfer. CONCLUSION When genetic testing of offspring indicates copy number variations such as deletions, duplications or mosaicism, the high-resolution OGM technique can be selected to screen parents for submicroscopic chromosomal structural variations. The result can facilitate accurate assessment for the risk of recurrence in offspring, selection of suitable method for reproduction, and identifying targets for PGT.
Humans ; Female ; Pregnancy ; Adult ; Male ; Karyotyping ; Chromosome Aberrations ; Abortion, Habitual/genetics* ; Preimplantation Diagnosis ; Genetic Testing

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

OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

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

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

BACKGROUND AND OBJECTIVE

Contraceptives are widely acknowledged for preventing unwanted pregnancies. However, there is a prevalent lack of awareness regarding contraceptives, leading to unaddressed misconceptions. This study aimed to identify common contraceptive misconceptions among men and women of reproductive age and explore how primary health workers address them.

METHODS

A qualitative study was conducted in two phases within District 5, Manila City. Phase 1 comprised focused group discussions with men and women of reproductive age (n=60), while Phase 2 involved conducting in-depth interviews with primary healthcare providers (n=16). MAXQDA, a qualitative software, to organize and code the data, was utilized.

RESULTS

Women of reproductive age reported several misconceptions about contraceptives, including concerns about adverse health effects, emotional and behavioral changes, perceived ineffectiveness, and cosmetic or bodily changes. For instance, they believed that contraceptives could lead to serious health complications, such as cancer, genital injury, and even death. Primary healthcare providers addressed these misconceptions through open dialogue during service delivery, particularly during prenatal and postpartum check-ups and infant immunizations. They utilized patient education strategies, including the teach-back method, and conducted community outreach and workshops on contraceptives and family planning, especially during Women’s Month.

CONCLUSION

Several misconceptions were identified among women of reproductive age regarding the proper use and safety of contraceptive methods, as well as misguided beliefs. In contrast, men did not exhibit any misconceptions about contraceptives, which warrants further investigation. Primary healthcare providers have taken a proactive approach to address this issue by offering comprehensive explanations and ensuring clear understanding between healthcare providers and women. Promoting contraceptive health literacy could help bridge the knowledge gap between men and women of reproductive age.

Human ; Contraceptives ; Contraceptive Agents ; Health Literacy ; Philippines

BACKGROUND

Sugar-sweetened beverages (SSBs) are a common part of Filipino meals. Increased SSB consumption is linked to weight gain and increased risk of noncommunicable diseases (NCDs). Previous studies have shown that health literacy (HL) is associated with positive health outcomes. However, there are limited studies examining its relationship with specific dietary behavior, including SSB consumption.

OBJECTIVE

The study aims to investigate the association between HL and SSB consumption among Filipinos aged 15 to 70 years.

METHODS

An analytic cross-sectional study using secondary data from the 2018-2019 National Health Literacy Survey (NHLS) was conducted. A total of 1,765 study participants (15 to 70 years old) were included. Socio-demographic information, daily SSB consumption (33 was considered "sufficient." Multivariate logistic regression was conducted to estimate adjusted odds ratios and confidence intervals for daily SSB consumption.

RESULTS

Out of the 1,765 study participants, 64.14% reported consuming (≥1 SSB drink per day, of whom majority (57.52%) were adults (31 to 59 years old), females (72.21%), married or in common-law partnership (65.70%), living in the Luzon region (47.23%), urban residents (71.94%), high school graduates (30.52%), have an annual household income of PhP 100,000–249,999 (37.03%), and employed (92.61%). Among those consuming ≥1 SSB drink per day, 51.89% had limited HL. Age, sex, and subnational level (National Capital Region, Luzon, Visayas, and Mindanao) were found to be significantly associated with the consumption of ≥1 SSB drink(s) per day. A weak association was found between HL and SSB consumption (aOR: 0.9591; 95% CI: 0.7832, 1.1747), that is, the adjusted odds of having limited HL were found to be slightly lower among those consuming ≥1 SSB drink(s) per day than those who consume

CONCLUSION

There was a high prevalence of daily SSB consumption among Filipinos. Among the variables considered, only age, sex, and subnational level were found to be significant determinants of SSB consumption. The findings of the study may provide valuable insights for targeted health promotion and education interventions in reducing SSB consumption among Filipinos such as workplace wellness programs, nutrition education, and the provision of healthier beverage alternatives. Priority should be given to younger individuals, males, and residents of the National Capital Region. This research also fills a gap in the literature regarding the role of HL in SSB consumption within the Philippine context. Findings of this study support adopting the Health Literacy Universal Precautions to ensure accessible health information and services for all, regardless of HL level.

Human ; Health Literacy ; Sugar-sweetened Beverages ; Sweetened Drink

BACKGROUND

Mobile clinics offer crucial healthcare services, including X-ray examinations, to underserved communities. Minimizing image repeats in this setting is vital due to radiation exposure, patient inconvenience, and cost implications.

OBJECTIVES

This study investigated the prevalence and causes of image repeat in conventional radiography performed within mobile clinics in the Philippines.

METHODS

A retrospective review analyzed data from five mobile clinics located in two highly urbanized cities in the Philippines from July to December 2023). Radiology staff assessed image quality, with suboptimal images requiring retakes. Reasons for rejection were categorized.

RESULTS

Out of 871 radiographs taken, 118 (13.55%) were repeated. Vertebrae and pelvic girdle images had the highest repeat rates (33.33%). Positioning errors were the most common cause (44.07%), followed by underexposure and overexposure.

CONCLUSION

This study identified a concerning repeat rate (13.55%) for mobile X-rays, primarily due to improper patient positioning, particularly for specific body parts. Targeted training programs and stricter protocols for mobile clinic staff are needed. Radiography education should also emphasize these skills, potentially through collaboration with mobile clinic operators to ensure graduates are prepared for the unique challenges of this environment.

Mobile Health Units ; Patient Positioning ; Radiography ; X-rays ; X-ray Film

Human ; Mass Screening ; Mothers ; Nuchal Translucency Measurement ; Prenatal Diagnosis