1.Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies.
Peizhen ZHAO ; Zhendong ZHAO ; Haizhu XU
Chinese Journal of Medical Genetics 2026;43(4):248-252
OBJECTIVE:
To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel.
METHODS:
A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55).
RESULTS:
Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development.
CONCLUSION
The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans
;
Infant, Newborn
;
Neonatal Screening/methods*
;
Female
;
Male
;
Lipid Metabolism, Inborn Errors/epidemiology*
;
Acyl-CoA Dehydrogenase/genetics*
;
China/epidemiology*
;
Follow-Up Studies
2.External ocular manifestations among patients diagnosed with Coronavirus disease 2019 in a referral center in the Philippines.
Alyssa Louise B. Pejana-Paulino ; Aramis B. Torrefranca Jr. ; Nilo Vincent DG. Florcruz ; Ma. Dominga B. Padilla
Acta Medica Philippina 2026;60(1):69-77
BACKGROUND AND OBJECTIVES
The global pandemic caused by Coronavirus Disease 2019 (COVID-19) has affected millions, with growing evidence of the potential role of ocular tissues in viral transmission. At the time of writing, local data regarding the phenomenon was limited. This study investigated external ocular manifestations in patients with COVID-19 at a referral center in the Philippines, examined correlations between demographics, systemic manifestations, and laboratory results with ocular manifestations, and determined their timing relative to systemic symptoms.
METHODSThis single-center, descriptive cross-sectional study was carried out from December 8 to 18, 2020 at the adult COVID-19 wards of the Philippine General Hospital involving 72 participants. Data collection involved relevant clinical history taking and performing gross eye examination. The prevalence of ocular manifestations was described with 95% confidence intervals. Correlations between ocular manifestations and quantitative variables were analyzed with point-biserial correlation, and associations with qualitative variables were tested using chi-square or Fisher’s exact tests.
RESULTSAmong participants, 31.9% presented with ocular manifestations with foreign body sensation as the most prevalent ocular symptom (11.1%) and conjunctival hyperemia as the most prevalent ocular finding (19.4%). The median age of patients with ocular manifestations was 41 years old with a higher prevalence in the male population (73.9%, CI=95%, p=0.001). No significant correlation was observed between presence of external ocular manifestations and the different systemic and ocular co-morbidities as well as with COVID-19 clinical classification. Among those who experienced symptoms, majority (29.2%) of the patients experienced systemic symptoms prior to the onset of ocular symptoms. Ocular complaints may present as the sole manifestation (13.9%). Several laboratory parameters were measured and only temperature and AST levels showed a low positive correlation with the presence of ocular manifestations.
CONCLUSIONOcular manifestations occur in roughly one third of patients with COVID-19 based on this study population. With some individuals presenting with ocular signs or symptoms as the initial and sole manifestation, healthcare practitioners must exercise caution and remain vigilant in managing patients who present as such. At the time of writing, this is the first local study investigating the different external ocular manifestations in patients with COVID-19. There is a need to pursue more robust studies and conduct more local investigations which will guide both ophthalmologists and other practitioners in strengthening existing guidelines regarding precautionary practices, clinical diagnosis, and management of COVID-19 patients.
Human ; Sars-cov-2 ; Covid-19 ; Philippines ; Adult ; Association ; Classification ; Collection ; Confidence Intervals ; Coronavirus ; Cross-sectional Studies ; Data Collection ; Demography ; Diagnosis ; Disease ; Exercise ; Eye ; Foreign Bodies ; History ; Hospitals ; Hospitals, General ; Hyperemia ; Laboratories ; Male ; Morbidity ; Ophthalmologists ; Pandemics ; Patients ; Population ; Prevalence ; Referral And Consultation ; Role ; Sensation ; Temperature ; Time ; Tissues ; Volition ; World Health Organization ; Writing
3.Genomic variant surveillance of SARS-CoV-2 positive specimens using a direct PCR product sequencing surveillance (DPPSS) method.
Nicole Ann L. Tuberon ; Francisco M. Heralde III ; Catherine C. Reportoso ; Arturo L. Gaitano III ; Wilmar Jun O. Elopre ; Kim Claudette J. Fernandez
Acta Medica Philippina 2026;60(1):57-68
BACKGROUND AND OBJECTIVE
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as the causative agent of COVID-19 has significantly challenged the public health landscape in late 2019. After almost 3 years of the first ever SARS-CoV-2 case, the World Health Organization (WHO) declared the end of this global health emergency in May 2023. Although, despite the subsequent drop of COVID-19 cases, the SARS-CoV-2 infection still exhibited multiple waves of infection, primarily attributed to the appearance of new variants. Five of these variants have been classified as Variants of Concern (VOC): Alpha, Beta, Gamma, Delta, and the most recent, Omicron. Therefore, the development of methods for the timely and accurate detection of viral variants remains fundamental, ensuring an ongoing and effective response to the disease. This study aims to evaluate the feasibility of the application of an in-house approach in genomic surveillance for the detection of SARS-CoV-2 variants using in silico designed primers.
METHODSThe primers used for the study were particularly designed based on conserved regions of certain genes in the virus, targeting distinct mutations found in known variants of SARS-CoV-2. Viral RNA extracts from nasopharyngeal samples (n=14) were subjected to quantitative and qualitative tests (Nanodrop and AGE). Selected samples were then analyzed by RT-PCR and amplicons were submitted for sequencing. Sequence alignment analysis was carried out to identify the prevailing COVID-19 variant present in the sample population.
RESULTSThe study findings demonstrated that the in-house method was able to successfully amplify conserved sequences (spike, envelope, membrane, ORF1ab) and enabled identification of the circulating SARS-CoV-2 variant among the samples. Majority of the samples were identified as Omicron variant. Three out of four designed primers effectively bound into the conserved sequence of target genes present in the sample, revealing the specific SARSCoV-2 variant. The detected mutations characterized for Omicron found in the identified lineages included K417N, S477N, and P681H which were also identified as mutations of interest. Furthermore, identification of the B.1.448 lineage which was not classified in any known variant also provided the potential of the developed in-house method in detecting unknown variants of COVID-19.
CONCLUSIONAmong the five VOCs, Omicron is the most prevalent and dominant variant. The in-house direct PCR product sequencing surveillance (DPPSS) method provided an alternative platform for SAR-CoV-2 variant analysis which is accessible and affordable than the conventional diagnostic surveillance methods and the whole genome sequencing. Further evaluation and improvements on the oligonucleotide primers may offer significant contribution to the development of a specific and direct PCRbased detection of new emerging COVID-19 variants.
Sars-cov-2 ; Polymerase Chain Reaction ; Dna Primers ; Oligonucleotide Primers ; Computer Simulation ; Conserved Sequence ; Coronavirus ; Covid-19 ; Disease ; Emergencies ; Evaluation Studies As Topic ; Genes ; Genome ; Global Health ; Health ; Identification (psychology) ; Infection ; Infections ; Membranes ; Methods ; Mutation ; Oligonucleotides ; Organizations ; Population ; Public Health ; Rna ; Rna, Viral ; Sars Virus ; Sequence Alignment ; Severe Acute Respiratory Syndrome ; Syndrome ; Viruses ; Whole Genome Sequencing ; World Health Organization
4.Bullous hemorrhagic dermatosis in a 65-year-old Filipino woman secondary to enoxaparin: A case report.
Acta Medica Philippina 2026;60(1):92-95
Bullous hemorrhagic dermatosis (BHD) is a rare cutaneous manifestation characterized by tense hemorrhagic bullae that appear at sites distant from low molecular weight heparin (LMWH) injections, typically within seven days of exposure. As of March 2022, only 94 cases have been reported. It most commonly affects elderly males with predisposing factors for thromboembolism, such as carcinoma, and usually involves the extremities.
This case highlights the importance of maintaining a high index of suspicion for bullous hemorrhagic dermatosis (BHD) in patients receiving low molecular weight heparin, even beyond the typical 7-day window and in demographics not commonly affected. Early recognition and prompt discontinuation of the offending agent, as demonstrated in this atypical presentation involving a Filipino elderly woman with multiple comorbidities and no malignancy, can lead to favorable outcomes. Clinicians should be aware of this rare but reversible complication to avoid misdiagnosis and ensure appropriate management.
Human ; Female ; Aged: 65-79 Yrs Old ; Affect ; Aged ; Blister ; Carcinoma ; Causality ; Demography ; Diagnostic Errors ; Enoxaparin ; Extremities ; Heparin ; Heparin, Low-molecular-weight ; Index ; Injections ; Lead ; Male ; Molecular Weight ; Neoplasms ; Patients ; Research Report ; Skin Diseases ; Thromboembolism ; Women
5.Filipino translation and cross-cultural adaptation of the diabetic foot knowledge subscale (DFKS) and foot self-care behavior scale (FSCBS) and its content validation and reliability testing
Aaron Patrick S. Manalo ; Aliyah Renee P. Quizon ; Jocel M. Regino ; Lia Katrina L. Lopez ; Mary Margaret Louise C. Quimson ; Justine Ann Marie V. De lara ; Christian Rey D. Rimando ; David Benjamin L. Ang
Acta Medica Philippina 2025;59(Early Access 2025):1-14
BACKGROUND
Type 2 diabetes is the most common type of diabetes in the Philippines. Diabetic foot complications represent a prevalent and significant chronic concern for individuals with type 2 diabetes. This poses an immediate community health concern, as diabetic complications may threaten an individual's well-being.
OBJECTIVEThis study intends to cross-culturally adapt the Diabetic Foot Knowledge Subscale (DFKS) and Foot Self-Care Behavior Scale (FSCBS) questionnaires into the Filipino language as an assessment tool among Filipinos with diabetes.
METHODSThe study employed a psychometric research design, where it entailed Phase A and Phase B. Phase A involved the forward translation of the DFKS and FSCBS questionnaires, followed by the synthesis of the translations and backward translation. Subsequently, an expert committee reviewed the translations and concluded the final version. The final translated versions of the questionnaires ensured that it can be understood by an individual who has a Grade 6 level of reading proficiency. Phase B entailed the validity testing with the evaluation of the expert committee, and reliability testing of the said questionnaires with a sample size of 30 participants. A wash-out period of 24 hours was given for the test-retest reliability, followed by data analysis. The validity and reliability of the questionnaires were measured using the item and scale content validity indices and the internal consistency and test-retest reliability, respectively, to ensure their accuracy and appropriateness. The content validity of the questionnaires was evaluated individually by the experts using a Likert scale from 1-4, with 4 being the highest meaning the item was very relevant and succinct. Scores per item were between 3 and 4, which indicate that the translated version of the items were relevant and succinct or were relevant but needed minor revisions.
RESULTSThe validity scores for the translated DFKS and FSCBS questionnaires were obtained using the Scale Content Validity Index (S-CVI) with a score of 0.96 and 0.92, respectively. Moreover, all items in the questionnaires obtained an Item Content Validity Index (I-CVI) of 0.88-1.00. The DFKS also has an acceptable internal consistency with a Cronbach’s alpha of 0.72, while the FSCBS has a good internal consistency with a Cronbach’s alpha of 0.85. The test-retest reliability shows an acceptable Spearman’s correlation at 0.76 for the DFKS and a strong positive Pearson correlation coefficient at 0.73 for the FSCBS.
CONCLUSIONThe validity of the two questionnaires was acceptable and the test-retest reliability showed a strong positive correlation among the items thereby making the cross-cultural adaptation of the questionnaires successful. The Filipino versions of the DFKS and FSCBS questionnaires accurately measure the knowledge and behavior of individuals with type 2 diabetes, respectively.
Human ; Diabetes Mellitus, Type 2 ; Diabetic Foot ; Public Health ; Cross-cultural Comparison
6.Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province.
Xinyun ZHU ; Dehua ZHAO ; Yizhuo XU ; Jie ZHANG ; Xiaole LI ; Suna LIU ; Min NI ; Yihui REN ; Chong ZHANG ; Yaqing GUO ; Junqi LI ; Shubo LYU ; Chenlu JIA ; Ying SHI
Chinese Journal of Medical Genetics 2025;42(6):641-647
OBJECTIVE:
To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.
METHODS:
A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67).
RESULTS:
Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms.
CONCLUSION
The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans
;
Amino Acid Metabolism, Inborn Errors/epidemiology*
;
Glutaryl-CoA Dehydrogenase/chemistry*
;
Infant, Newborn
;
Female
;
Neonatal Screening/methods*
;
Male
;
Brain Diseases, Metabolic/epidemiology*
;
China/epidemiology*
;
Retrospective Studies
;
Mutation
;
Genetic Variation
;
Glutarates
7.Diagnosis and treatment of urologic malignancies in the Philippines: A multi-center prospective cohort study (PUMA study).
Rudolfo I. DE GUZMAN ; Bennie Dick C. CATANGAY ; Norwin T. UY ; Hermenegildo Jose B. ZIALCITA ; Jose-vicente T. PRODIGALIDAD
Philippine Journal of Urology 2025;35(2):88-96
OBJECTIVES
To create a pilot urologic malignancy registry using demographic and clinical data of a cohort of patients newly diagnosed to have urologic malignancies in the year 2021.
METHODSThis was a prospective cohort study conducted in four study sites: National Kidney and Transplant Institute, East Avenue Medical Center, UP-Philippine General Hospital and Batangas Medical Center
RESULTSA total of 243 patients with newly diagnosed urologic cancers were enrolled. The median age was 61 years, with a wide range of 1 to 87 years. Most of the patients (81.47%) were male, while there were 45 females (18.52%) who had either urinary bladder, kidney or upper urothelial cancer. The most common type of malignancy was prostate cancer (34.57%), followed by kidney cancer (30.04%) and urinary bladder cancer (24.69%), consistent with the currently observed worldwide incidence. There were also 3 patients (1.23%) noted with multiple primaries. More than half of the patients (63.37%) received surgery as active treatment. After the two-year follow-up period, thirteen patients (5.35%) developed progressive disease, and 14 patients (5.76%) died.
CONCLUSIONThis urologic cancer registry represents the first multi-center, investigator-initiated epidemiologic study of its kind in the Philippines. As a proof-of-concept (POC) project, it demonstrates the feasibility of establishing a national database capturing baseline data on the country’s most common urologic malignancies.
Cohort Studies ; Multiple Chronic Conditions ; Prostatic Neoplasms ; General Surgery ; Epidemiology
8.Serving communities, shaping systems: The evolving role of public health nurses in the Philippines.
Philippine Journal of Nursing 2025;95(2):12-17
Public health nurses (PHNs) in the Philippines play a vital role in advancing Universal Health Care and Primary Health Care by serving as frontline leaders in community engagement, health promotion, and policy implementation. Despite their contributions, they face persistent challenges, including workforce shortages, wage disparities, hospital-centric education, and fragmented governance. Drawing from a reflexive narrative of community-based practice and organizational experience, this article situated the evolving role of PHNs within broader health systems transformation. The National Association of Public Health Nurses, Inc. (NAPHNI) established a unified platform for advocacy, leadership development, and recognition of advanced practice roles. Policy reforms such as a National Nursing Workforce Plan, passage of the Comprehensive Nursing Bill, and competitive compensation were imperative to empower PHNs. Strengthening public health nursing was discovered to be crucial in achieving health equity and a resilient healthcare system in the Philippines.
Human ; Public Health Nursing ; Universal Health Care ; Primary Health Care ; Health Equity
9.Advancing the role of higher education institutions in attaining the health-related sustainable development goals: Proceedings of the 53rd Asia Pacific Academic Consortium for Public Health, 21-23 September 2022, Philippines
Maria Margarita M. Lota ; Paul Michael R. Hernandez ; Vivien Fe F. Fadrilan-camacho ; Fresthel Monica M. Climacosa ; Francis Andrew B. Cube ; Kim Leonard G. Dela luna ; Crystal Amiel M. Estrada ; Emerito Jose A. Faron ; Fernando B. Garcia jr. ; Myra S. Mistica ; Frederick S. Nieto ; Sharon Yvette Angelina M. Villanueva ; Vicente Y. Belizario jr.
Acta Medica Philippina 2025;59(4):10-13
Higher Education Institutions (HEIs) are acknowledged as key drivers in realizing health-related Sustainable Development Goals (SDGs). The University of the Philippines Manila, College of Public Health (UP CPH) together with the Asia-Pacific Academic Consortium for Public Health (APACPH), hosted the 53rd APACPH International Conference last 21-23 September 2022. The conference discussed current issues relating to the attainment of SDGs and promoted collaboration of leading academic institutions and other stakeholders in addressing various public health challenges. The conference revolved around the challenges and opportunities in attaining health-related SDGs, and the good practices and roles of HEIs in addressing health disparities. The lack of certificati on framework of public health tertiary programs, pedagogy and infrastructure, and ambiguous roles and network of public health professionals were discussed. The conference served as a platform for discussing potential resolutions and ways forward in addressing these challenges. Opportunities for improvement such as updating of policies and curricula, strengthening of internship and community engagement programs, establishment of capacity-building partnerships and programs, and developing multidisciplinary-competent faculty and students were identified. This paper providesthe highlights of the conference focusing on the good practices and roles of HEIs in addressing health disparities, the impact of COVID-19 pandemic, and other issues and challenges in attaining SDGs.
Human ; Sustainable Development ; Sustainable Development Goals ; Public Health
10.Health protocol practices and personal preventive measures among fully vaccinated individuals with comorbidities in the National Capital Region, Philippines during the COVID-19 pandemic: A mixed-method study
Maria Luisa Olano ; Matthew Spencer T. Ho ; Mareeya P. Yumena ; Diana Leah Mendoza ; Patricia Anne C. Ty ; Erin Grace B. Villanueva ; Christine Rozien M. Palayad ; Jaye Kirsten U. Melchor ; Chrissea B. Custodio
Acta Medica Philippina 2025;59(4):26-41
BACKGROUND AND OBJECTIVE
The Philippine Inter-Agency Task Force for the Management of Emerging Infectious Diseases implemented health protocol guidelines to reduce the risk of COVID-19 transmission. Individuals with comorbidities were advised to take precautionary measures due to their increased vulnerability. This study aimed to assess the relationship between knowledge, acceptance, and adherence to health protocols among fully vaccinated individuals with comorbidities in the National Capital Region, Philippines.
METHODSThe study employed an explanatory-sequential mixed-method design. The quantitative phase involved an online survey with 384 respondents. The survey included questions on socio-demographic profile, COVID-19 knowledge, acceptability of health protocols, and adherence to preventive practices. Chi-square Test of Independence and Pearson’s Correlation Test were used to analyze the data. Semi-structured interviews were conducted with 11 participants, providing rich insights into their personal experiences. The interview transcripts were analyzed using Colaizzi’s descriptive method with the aid of qualitative analysis software (MAXQDA), ensuring a rigorous approach to thematic analysis. The integration of the two phases was achieved by connecting quantitative results with qualitative insights, creating a comprehensive understanding of the phenomena under study.
RESULTSFindings showed that the relationship of sociodemographic characteristics and level of knowledge (Gender pCONCLUSION
The study suggests that multiple factors contribute to non-adherence to health protocols. Recognizing these holes and weaknesses in the COVID-19 pandemic response stresses the need for national leaders to place urgency on properly implementing preventive measures and providing health education to the masses during public health situations. Collaboration from all sectors is crucial in addressing public health crises. This study can be a valuable resource for future researchers, local government units, and policymakers in prioritizing public health care and pandemic preparedness.
Human ; Comorbidity ; Covid-19 ; Public Health Practice ; Vaccines


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