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.Public health nurses' provision of primary healthcare services in the context of universal health care.
Mary Cris T. ROMBAOA ; Charlie C. FALGUERA ; Danica V. DELIMA ; Mandy Roie A. ATENDIDO
Philippine Journal of Health Research and Development 2025;29(4):26-33
BACKGROUND
Public health nurses (PHNs) are a significant cadre of the primary healthcare workforce working toward achieving universal health care (UHC). Exploring their work activities is integral to understanding how UHC is implemented better.
OBJECTIVESTo describe and explore the work activities, roles, and functions of the PHNs in rendering primary care services in the context of UHC.
METHODSKey informant interviews were conducted with 12 PHNs in Tarlac Province who were working with permanent status in their respective rural health units (RHUs) for at least 1 year. They were selected through selection criteria. Data were recorded, transcribed, and subjected to thematic analysis.
RESULTSData analysis led to the emergence of 4 themes and 11 subthemes. The four themes were: (a) evolving scope and nature of work, (b) work challenges and barriers toward UHC implementation, (c) UHC outcomes, impact, and insights, and (d) communication and health promotion.
CONCLUSIONSThe study underscores the importance of exploring the PHNs’ roles and functions, as it offers a window on how they fulfill their duties toward achieving the goals of UHC. From the viewpoint of the interviewed PHNs, several elements and issues need to be addressed. Consequently, some positive impact on their work activities and functions emerged. Their nature of work brought them professional development and fulfillment as they render primary care and value-driven services despite the challenges and struggles they encountered in public health.
Human ; Primary Health Care ; Nurses, Public Health ; Universal Health Care
6.A pilot study assessing the groundwater quality in selected regions of the Philippines the Philippines using the Philippine groundwater health index project.
John Christian R. RANCES ; Romeo R. QUIZON ; Rose Abigail Enoveso DUARTE ; Francis Sebastian MAGBANUA ; Gemalyn L. TENOC ; Jhomee Fe F. SAPITAN ; Ismael P. GEROZA ; Jeremy Peregrino MONDEJAR ; Judee N. NOGODULA ; Marian Fe Theresa C. LOMBOY-CAPINO
Philippine Journal of Health Research and Development 2025;29(4):53-62
BACKGROUND
Groundwater is an essential resource for domestic use, agricultural needs, and economic activities, yet it is increasingly threatened by contamination and overextraction. To evaluate groundwater quality and identify associated health risks, the Philippine Groundwater Health Index (PGHI) project conducted a comprehensive assessment of selected sites across various regions in the country.
METHODSThe study analyzed groundwater samples from multiple locations to determine compliance with the Philippine National Standards for Drinking Water. Parameters assessed included organochlorines, heavy metals, microbial indicators, and physical and nonmetal characteristics such as phosphate and ammonia levels. Results were compiled to evaluate overall groundwater safety and identify areas of concern.
RESULTSNo organochlorines were detected in any of the samples, and all heavy metals complied with national drinking water standards. However, significant noncompliance was observed in other parameters. Microbial contamination was widespread, with 79.25% of samples failing to meet microbial standards due to the presence of fecal coliforms and Escherichia coli. Elevated levels of physical and nonmetal parameters were also noted, with 21 of 27 sites exceeding phosphate limits and 8 sites exceeding ammonia levels. These findings indicate substantial health risks associated with fecal contamination and nutrient pollution.
CONCLUSIONThe PGHI project underscores the urgent need for enhanced groundwater treatment processes, regular monitoring, and strengthened policy-making to ensure safe drinking water. While the study provides critical insights, limitations such as lack of seasonal data, absence of emerging contaminant analysis, and limited spatial coverage highlight the necessity for continued improvements in groundwater management. Addressing these gaps is essential to protect public health, preserve environmental quality, and ensure the sustainable availability of safe groundwater for future generations.
Human ; Groundwater ; Public Health
7.Overview of heart failure management in the philippines: a descriptive cross-sectional study based on the Philippine National Heart Failure Network Survey results.
Jonathan James G. BERNARDO ; Luigi Pierre SEGUNDO ; Amilbahar KARIM ; Jose Bernardo A. CALATRAVA ; Lea Araceli PORCIUNCULA ; Erlyn P. CABANAG-DEMERRE ; Felix Eduardo PUNZALAN
Philippine Journal of Cardiology 2025;53(2):65-73
INTRODUCTION
Heart failure (HF) remains a significant global health issue, affecting approximately 64 million individuals worldwide. In the Philippines, the prevalence aligns with global estimates, disproportionately affecting older populations.
METHODOLOGYThe Philippine National Heart Failure Network (PNHFN) conducted a cross-sectional survey from November 2021 to March 2022 to assess the landscape of HF management among medical professionals across the country.
RESULTSA total of 1,649 physicians responded, primarily cardiologists (64%), internal medicine specialists (27%), and general practitioners (12%). While diagnostic tools such as electrocardiography (92%) and 2D echocardiography (85%) were widely available, advanced imaging modalities and specialized cardiac procedures, including cardiac catheterization and heart failure implantable devices, were less accessible outside metropolitan areas. Essential HF medications, including renin-angiotensin system blockers (84%), beta-blockers, and diuretics, were commonly prescribed; however, newer pharmacologic options such as sodium-glucose co-transporter 2 inhibitors remained underutilized.
CONCLUSIONCardiac rehabilitation was accessible to less than half of respondents (48%), with unavailability cited as a major barrier. Despite these challenges, 97% of participants supported the establishment of HF programs to improve patient care and provider support. The findings highlight the need for improved access to advanced diagnostic and therapeutic modalities, enhanced education on guideline-directed HF management, and expanded infrastructure to bridge gaps in care delivery. Strengthening national HF initiatives and fostering collaboration among stakeholders are crucial in optimizing HF management and patient outcomes in the Philippines.
Human ; Heart Failure ; Philippines ; Healthcare Infrastructure ; Public Health Infrastructure
8.Association between urinary metallothionein concentration and causes of death among cadmium-exposed residents in Japan: a 35-year follow-up study.
Lianen LI ; Rie OKAMOTO ; Xian Liang SUN ; Teruhiko KIDO ; Kazuhiro NOGAWA ; Yasushi SUWAZONO ; Hideaki NAKAGAWA ; Masaru SAKURAI
Environmental Health and Preventive Medicine 2025;30():1-1
BACKGROUND:
As research progresses, there is a growing body of evidence indicating that urinary metallothionein (MT) levels may be elevated in individuals exposed to cadmium (Cd). This study aimed to investigate the potential association between urinary MT levels and causes of mortality among residents of the Kakehashi River Basin who have been exposed to Cd.
METHOD:
The study involved a total of 1,398 men and 1,731 women were conducted between 1981 and 1982, with follow-up until November 2016. The study employed the Cox proportional-hazards model to examine the association between higher urinary MT concentrations and the risk of all-cause or cause-specific mortality within the population. Furthermore, the Fine and Gray competing risks regression model was used to evaluate the links between specific causes of death.
RESULTS:
The findings revealed that elevated urinary MT concentrations were linked to increased all-cause mortality and higher mortality rates from renal and urinary tract diseases across all participants. Specifically, in men, higher urinary MT levels were associated with elevated all-cause mortality, while in women, increased concentrations were linked to higher mortality from endocrine, nutritional, and metabolic diseases, as well as cardiovascular diseases. Even after adjusting for competing risks, higher urinary MT concentrations were associated with tumor-related mortality in men and continued to be associated with cardiovascular disease mortality in women.
CONCLUSIONS
In conclusion, the results suggest that women may face a greater risk of adverse health effects due to prolonged exposure to Cd. Urinary MT levels could potentially serve as a biomarker for mortality from these diseases in populations chronically exposed to Cd.
Humans
;
Male
;
Female
;
Cadmium/urine*
;
Japan/epidemiology*
;
Metallothionein/metabolism*
;
Middle Aged
;
Cause of Death
;
Adult
;
Follow-Up Studies
;
Aged
;
Environmental Exposure/analysis*
;
Proportional Hazards Models
9.Characteristics and outcomes of out-of-hospital cardiac arrest among students under school supervision in Japan: a descriptive epidemiological study (2008-2021).
Kosuke KIYOHARA ; Mamoru AYUSAWA ; Masahiko NITTA ; Takeichiro SUDO ; Taku IWAMI ; Ken NAKATA ; Yuri KITAMURA ; Tetsuhisa KITAMURA
Environmental Health and Preventive Medicine 2025;30():4-4
BACKGROUND:
A comprehensive understanding of the epidemiology of pediatric out-of-hospital cardiac arrest (OHCA) occurring under school supervision is lacking. We aimed to comprehensively describe the characteristics and outcomes of OHCA among students in elementary schools, junior high schools, high schools, and technical colleges in Japan.
METHODS:
OHCA data from 2008-2021 were obtained from the SPIRITS study, which provides a nationwide database of OHCAs occurring under school supervision across Japan. We included cases in which resuscitation was attempted by emergency medical service personnel or bystanders. The cases were classified into three groups based on their etiology: cardiac, non-cardiac, and traumatic origin. The primary outcome was one-month survival with favorable neurological outcomes, defined as a Glasgow-Pittsburgh cerebral performance category of 1 or 2. The demographic characteristics, event details, and outcomes were compared across the three groups by using χ2 tests for categorical variables and one-way analyses of variance for continuous variables.
RESULTS:
During the 14-year study period, 602 OHCA cases were confirmed, with 430 (71.4%) classified as cardiac, 91 (15.1%) as non-cardiac, and 81 (13.5%) as traumatic origin. Non-cardiac and traumatic cases were less likely to be witnessed at the time of arrest (46.2% and 42.0%, respectively) than cardiac cases (82.6%; p < 0.001). Initiation of cardiopulmonary resuscitation by bystanders was less common in non-cardiac and traumatic cases (62.6% and 42.0%, respectively) than that in cardiac cases (82.8%; p < 0.001). The delivery of defibrillation using public-access automated external defibrillators was also significantly less frequent in non-cardiac (3.3%) and traumatic cases (6.2%) than that in cardiac cases (59.8%; p < 0.001). Ventricular fibrillation (VF) as the first documented rhythm was observed in 77.9% of cardiac cases but was much less common in non-cardiac (5.5%) and traumatic cases (8.6%; p < 0.001). One-month survival with favorable neurological outcomes was significantly lower in non-cardiac (6.6%) and traumatic cases (0%) than that in cardiac cases (50.2%; p < 0.001).
CONCLUSIONS
OHCAs of cardiac origin were more frequently associated with VF and had relatively good prognoses. In contrast, OHCAs of non-cardiac and traumatic origins consistently resulted in poor outcomes, highlighting the critical importance of prevention strategies to reduce the occurrence of these incidents.
Out-of-Hospital Cardiac Arrest/etiology*
;
Humans
;
Japan/epidemiology*
;
Male
;
Female
;
Child
;
Students/statistics & numerical data*
;
Schools/statistics & numerical data*
;
Adolescent
;
Cardiopulmonary Resuscitation/statistics & numerical data*
;
Emergency Medical Services/statistics & numerical data*
;
Epidemiologic Studies
10.Impact of fear of coronavirus disease 2019 on attention-deficit/hyperactivity disorder traits associated with depressive symptoms, functional impairment, and low self-esteem in university students: a cross-sectional study with mediation analysis.
Tomoko SUZUKI ; Toshiyuki OHTANI ; Michiko NAKAZATO ; Ariuntuul GARIDKHUU ; Basilua Andre MUZEMBO ; Shunya IKEDA
Environmental Health and Preventive Medicine 2025;30():2-2
BACKGROUND:
High levels of attention-deficit/hyperactivity disorder (ADHD) traits are associated with various outcomes, including depressive symptoms, functional impairment, and low self-esteem. Additionally, individuals with high levels of ADHD traits are reported to be more adversely affected by fear of coronavirus disease 2019 (COVID-19). The current study aimed to examine whether the association between ADHD traits and outcomes was partially mediated by fear of COVID-19 using mediation analysis.
METHODS:
A cross-sectional study was conducted in a sample of university students in medical-related faculties (n = 1,166). ADHD traits, fear of COVID-19, depressive symptoms, functional impairment, and self-esteem were assessed using the adult ADHD Self-Report Scale, Fear of COVID-19 Scale, K6 Scale, Sheehan Disability Scale, and Rosenberg Self-Esteem Scale, respectively. We used linear regression analysis and the Paramed command in Stata to analyze whether fear of COVID-19 mediated the association between ADHD traits and outcomes.
RESULTS:
ADHD traits were significantly associated with outcomes. Regarding the impact of fear of COVID-19, the results revealed a significant association between ADHD traits and fear of COVID-19, and between fear of COVID-19 and outcomes. The results of the mediation analyses showed that the association between ADHD traits and outcomes was partially mediated by the fear of COVID-19 (depressive symptoms: direct effect B = 1.029, 95% confidence interval [CI] 0.878, 1.181, indirect effect B = 0.021, 95% CI 0.002, 0.040; functional impairment: direct effect B = 0.786, 95% CI 0.593, 0.979, indirect effect B = 0.033, 95% CI 0.005, 0.060; self-esteem: direct effect B = -1.052, 95% CI -1.226, -0.878, indirect effect B = -0.024, 95% CI -0.046, -0.002).
CONCLUSIONS
Developing preventive measures against the adverse impacts of pandemics like COVID-19 will be particularly important for individuals with high levels of ADHD traits in future.
Humans
;
COVID-19/psychology*
;
Attention Deficit Disorder with Hyperactivity/epidemiology*
;
Cross-Sectional Studies
;
Self Concept
;
Male
;
Female
;
Depression/epidemiology*
;
Fear/psychology*
;
Young Adult
;
Universities
;
Students/psychology*
;
Adult
;
SARS-CoV-2
;
Mediation Analysis
;
Adolescent


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