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.The research agenda-setting for the Department of Health National Specialty Center for Eye Care.
Philippine Journal of Ophthalmology 2026;51(1):17-25
OBJECTIVE
To describe in detail the research agenda-setting process of the Department of Health National Specialty Center for Eye Care with the guidance of the National Institute of Health (NIH) - Department of Clinical Epidemiology.
METHODSA research agenda technical working group (TWG) was organized to spearhead the research agenda setting, in collaboration and guidance of the NIH. After identifying relevant internal and external stakeholders, the TWG drafted a contextual map that served as an overarching framework. Research topics were obtained from the stakeholders and the TWG collated, reviewed and summarized prior to ranking them systematically. Each topic was prioritized through a weighted ranking system evaluating its feasibility, public health benefit, and resource/cost requirements. A final en banc session including the stakeholders was held to formalize the approval of the research agenda. An infographic was developed to serve as a visual guide for consultants and trainees in initiating research.
RESULTSThe TWG tallied 85 unique research topics from both the internal and external stakeholders. These topics encompassed a broad range of areas, including epidemiology, surgical, and medical management, health systems research, economic evaluations of interventions, and occupational/environmental factors.
CONCLUSIONThe 2024-2027 research agenda of the Department of Health National Specialty Center for Eye Care was crafted, with the guidance of the NIH Department of Clinical Epidemiology. The goal was to improve the center's research output by aligning it with stakeholders thereby serving as a research benchmarking tool for the local ophthalmology community
Human ; Epidemiology ; Eye ; Health ; Research
6.Two heartbeats, one tumor: Non-functioning adrenocortical tumor in pregnancy
Nur Nisrina Yahya ; Noor Rafhati Adyani Abdullah
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):21-
Introduction:
Adrenocortical carcinoma (ACC) is a rare and aggressive
malignancy, with an incidence of 1–2 cases per million
annually. Its occurrence during pregnancy is exceptionally uncommon, presenting significant diagnostic and management challenges due to overlapping physiological changes
and concerns for both maternal and fetal outcomes. While
most cases are hormonally functional, non-functioning
ACC during pregnancy is particularly rare and may result
in delayed diagnosis.
Case:
A 35-year-old Malay female was referred following ultrasonography for persistent back and left flank pain, which
revealed a left adrenal incidentaloma and a concurrent
10-week intrauterine pregnancy. There were no clinical
signs of hormone excess. Physical examination revealed a
normotensive patient with a large, palpable left abdominal
mass, without Cushingoid or virilizing features.
Magnetic resonance imaging (MRI) demonstrated a 12.1
× 10.3 × 12.8 cm heterogeneous left adrenal mass with
cystic and necrotic components, displacing adjacent
structures. Hormonal evaluation was within normal limits:
24-hour urinary cortisol 320.2 nmol/24 hours (reference
range [RR] 11.8–350), midnight salivary cortisol <3 and
4.2 nmol/L (RR <11.3), plasma metanephrine <0.2 nmol/L
(RR <0.5), normetanephrine 0.6 nmol/L (RR <0.9), and
17-hydroxyprogesterone 223 ng/dL (RR <285), consistent
with a non-functioning tumor.
Following multidisciplinary consultation, the patient
underwent open left adrenalectomy at 16 weeks’ gestation.
Histopathological analysis confirmed ACC (Weiss score
8/9) without extra-adrenal extension. Surveillance MRI at
32 weeks demonstrated no recurrence or residual mass.
At 40 weeks’ gestation, she delivered a healthy infant, and
both mother and child remain well on follow-up.
Conclusion
Non-functioning ACC during pregnancy is rare and
poses significant diagnostic challenges. Early imaging,
comprehensive hormonal assessment, and timely surgical
intervention during the second trimester are essential.
Multidisciplinary management is crucial to optimizing
maternal and fetal outcomes.
Female
;
Pregnancy
;
Heart Rate
;
Neoplasms
7.A participatory approach to determining the appropriate medical examination requirements for employment in an urban setting in the Philippines.
Jhason John J. Cabigon ; Lea Elora A. Conda ; Celin Audrey V. Nuñ ; ez ; Dana Sophia Elizandra T. Uy ; Catherine S. Artaiz-Cariaga ; Geminn Louis C. Apostol
Acta Medica Philippina 2026;60(6):80-91
BACKGROUND AND OBJECTIVE
Evidence base on employment-related medical examinations is highly variable. The aim of this study is to build expert agreement on the appropriate medical and laboratory tests in major industries in Quezon City.
METHODSAn initial scoping review of local, national, and international policies on employment-related diagnostic testing was done. The determination of industries at the selected study site (Quezon City) was accomplished through Pareto analysis. Interviews of key informants and representatives, and a consensus-building process through an expert panel were carried out by the Philippine College of Occupational Medicine (PCOM) Quezon City Chapter. Data gathered was used in the study and analyzed. An initial list of medical tests and diagnostics was drafted and the Modified RAND appropriateness method was used as the choice of mixed methods consensus-building process by an expert panel.
RESULTSRegulations often vary significantly within settings and implementers, particularly the scope, content, and procedures for medical examinations of workers. History taking (including occupational history) and physical examination are the cornerstones of the screening process. CBC and chest x-ray were deemed appropriate screening laboratory tests for asymptomatic preemployment examination, while only chest x-rays were used during periodic examinations. Additional tests for medical surveillance should be based on job demands and specific exposure. For specific chemical exposure, standard references for medical requirements, like from Occupational Safety and Health Administration (OSHA), can be referred to.
CONCLUSIONA shift in how occupational health and safety measures are implemented is needed, particularly in the pre-employment and periodic examination practices, for more relevant screening while preventing unnecessary and low-yield testing and reducing costs for the employer and the employee. An occupational screening checklist/questionnaire based on the results of the study that includes appropriate clinical history-taking, review of systems (ROS), physical examination, and laboratories must be devised, which is to be followed by training in the proper conduction of these medical assessments.
Occupational Medicine ; Occupational Health ; Public Health ; Preventive Medicine
8.Interprofessional education exposure and attitudes toward collaboration among allied health graduates in the Philippines: A cross-sectional study.
Paolo Miguel P. Bulan ; Nikki Y. Pestañ ; o ; Romel V. Cabazor ; Marelen H. Amanuence ; Lois Vanjie G. Napalit ; Niñ ; o Paolo M. Tan ; Catherine S. Malaca ; Eubina C. Estoy
Acta Medica Philippina 2026;60(9):58-67
BACKGROUND
The global impact of the COVID-19 pandemic has instigated a profound public health crisis, particularly affecting professionals like dentists who, due to their close interaction with saliva—a potential viral reservoir—and the aerosols generated during specific procedures, face elevated risks of infection. To mitigate this, the Centers for Disease Control and Prevention (CDC) and the Philippine Dental Association (PDA) have established guidelines for averting cross-infection in dental settings
OBJECTIVEThis study, conducted in an urbanized Metro Manila City, delves into the infection control practices of dentists amid the pandemic.
METHODSDentists from a Metro Manila city dental chapter were invited to participate in an online survey (Google Forms) consisting of participants' demographics, patient triage, engineering, administrative controls, disinfection personal hygiene, personal protective equipment (PPE), and waste management practices. Descriptive statistics, employing frequency distributions and percentages, summarized the dentists' adherence to infection control protocols.
RESULTSOut of forty-nine respondents (49), the majority (92%) provided their teams' orientation on COVID-19 infection control protocols before reopening. Notably, 57% deferred elective procedures and 43% postponed aerosolgenerating procedures (AGPs). Only 39% utilized rubber dam isolation during AGPs. Most respondents reported full implementation of recommended administrative controls during the pandemic, with 92% isolating their treatment areas from other parts of the clinic. Most respondents adopted high-efficiency particulate air (HEPA) filtration units (82%) as one of their clinic’s engineering controls, and an extraoral vacuum machine, accounting for 71% of the respondents. The most common disinfection product used by the participants was alcohol, which was at 94%. Additionally, over 90% adhered to all recommended hand hygiene practices for both dental staff and patients. For the waste management protocols, only 55% of the respondents have their infectious waste collected by third-party Treatment Storage and Disposal (TSD) facilities.
CONCLUSIONThe data shows that with the guidelines posted by both the PDA and CDC, the city’s dental practitioners could still provide services to the community in the safest manner at the time by being updated and following the infection control practices suggested by both organizations. Although some areas could have been improved, such as third-party waste management and the utilization of RT-PCR testing, some of these problems could have been attributed to the lack of availability in their areas.
Public Health ; Philippines ; Interprofessional Education ; World Health Organization ; Centers For Disease Control And Prevention, U.s. ; Centers For Disease Control And Prevention (u.s.)
9.Infection control practices of dentists in an urbanized city in the Philippines during the COVID-19 pandemic within the period of general community quarantine.
Ma. Bianca B. Barrameda ; Ma. Chrizel Iana A. Madlangbayan ; Joshua Marcel A. Sy ; Melanie Ruth M. Karganilla
Acta Medica Philippina 2026;60(9):80-90
BACKGROUND
The global impact of the COVID-19 pandemic has instigated a profound public health crisis, particularly affecting professionals like dentists who, due to their close interaction with saliva—a potential viral reservoir—and the aerosols generated during specific procedures, face elevated risks of infection. To mitigate this, the Centers for Disease Control and Prevention (CDC) and the Philippine Dental Association (PDA) have established guidelines for averting cross-infection in dental settings.
OBJECTIVEThis study, conducted in an urbanized Metro Manila City, delves into the infection control practices of dentists amid the pandemic.
METHODSDentists from a Metro Manila city dental chapter were invited to participate in an online survey (Google Forms) consisting of participants' demographics, patient triage, engineering, administrative controls, disinfection personal hygiene, personal protective equipment (PPE), and waste management practices. Descriptive statistics, employing frequency distributions and percentages, summarized the dentists' adherence to infection control protocols.
RESULTSOut of forty-nine respondents (49), the majority (92%) provided their teams' orientation on COVID-19 infection control protocols before reopening. Notably, 57% deferred elective procedures and 43% postponed aerosolgenerating procedures (AGPs). Only 39% utilized rubber dam isolation during AGPs. Most respondents reported full implementation of recommended administrative controls during the pandemic, with 92% isolating their treatment areas from other parts of the clinic. Most respondents adopted high-efficiency particulate air (HEPA) filtration units (82%) as one of their clinic’s engineering controls, and an extraoral vacuum machine, accounting for 71% of the respondents. The most common disinfection product used by the participants was alcohol, which was at 94%. Additionally, over 90% adhered to all recommended hand hygiene practices for both dental staff and patients. For the waste management protocols, only 55% of the respondents have their infectious waste collected by third-party Treatment Storage and Disposal (TSD) facilities.
CONCLUSIONThe data shows that with the guidelines posted by both the PDA and CDC, the city’s dental practitioners could still provide services to the community in the safest manner at the time by being updated and following the infection control practices suggested by both organizations. Although some areas could have been improved, such as third-party waste management and the utilization of RT-PCR testing, some of these problems could have been attributed to the lack of availability in their areas.
Human ; Male ; Female ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Aged: 65-79 Yrs Old ; World Health Organization ; Residence Characteristics ; Quarantine ; Public Health ; Centers For Disease Control And Prevention (u.s.) ; Covid-19 ; Centers For Disease Control And Prevention, U.s.
10.Analysis of factors associated with stunting in toddlers: A mixed methods study in Banten, Indonesia.
Rukmaini ; Jenny Anna Siauta ; Ida Handayani ; Mey Maya Sari Nasution
Acta Medica Philippina 2026;60(9):100-109
BACKGROUND
Stunting remains a major public health issue in Indonesia, particularly in regions like Pandeglang Regency, where prevalence rates are high. Understanding the contributing factors is essential for targeted interventions.
OBJECTIVEThis study aimed to analyze factors associated with stunting among toddlers using a mixed-methods approach.
METHODSA cross-sectional mixed-methods study was conducted in two health centers in Banten Province from December 2021 to January 2022. Quantitative data were collected using a structured questionnaire and analyzed using chi-square tests (pRESULTS
There is a relationship between maternal knowledge, history of exclusive breastfeeding, history of supplementary feeding, support from health workers, and socio-economic status with the prevalence of stunting. However, the pattern of exclusive breastfeeding and seeking health services in the working areas of Bangkonol Health Center and Kaduhejo Health Center, Pandeglang Regency, is not good enough and needs to be improved. Health workers need to educate mothers with toddlers about patterns of providing complementary feeding, food preparation, and storage, and basic health practices to prevent stunting.
RESULTSThere is a relationship between maternal knowledge, history of exclusive breastfeeding, history of supplementary feeding, support from health workers, and socio-economic status with the prevalence of stunting. However, the pattern of exclusive breastfeeding and seeking health services in the working areas of Bangkonol Health Center and Kaduhejo Health Center, Pandeglang Regency, is not good enough and needs to be improved. Health workers need to educate mothers with toddlers about patterns of providing complementary feeding, food preparation, and storage, and basic health practices to prevent stunting.
Human ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Public Health ; Prevalence ; Methods ; Indonesia ; Health ; Growth Disorders ; Comprehension


Result Analysis
Print
Save
E-mail