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.Research on intelligent fetal heart monitoring model based on deep active learning.
Bin QUAN ; Yajing HUANG ; Yanfang LI ; Qinqun CHEN ; Honglai ZHANG ; Li LI ; Guiqing LIU ; Hang WEI
Journal of Biomedical Engineering 2025;42(1):57-64
Cardiotocography (CTG) is a non-invasive and important tool for diagnosing fetal distress during pregnancy. To meet the needs of intelligent fetal heart monitoring based on deep learning, this paper proposes a TWD-MOAL deep active learning algorithm based on the three-way decision (TWD) theory and multi-objective optimization Active Learning (MOAL). During the training process of a convolutional neural network (CNN) classification model, the algorithm incorporates the TWD theory to select high-confidence samples as pseudo-labeled samples in a fine-grained batch processing mode, meanwhile low-confidence samples annotated by obstetrics experts were also considered. The TWD-MOAL algorithm proposed in this paper was validated on a dataset of 16 355 prenatal CTG records collected by our group. Experimental results showed that the algorithm proposed in this paper achieved an accuracy of 80.63% using only 40% of the labeled samples, and in terms of various indicators, it performed better than the existing active learning algorithms under other frameworks. The study has shown that the intelligent fetal heart monitoring model based on TWD-MOAL proposed in this paper is reasonable and feasible. The algorithm significantly reduces the time and cost of labeling by obstetric experts and effectively solves the problem of data imbalance in CTG signal data in clinic, which is of great significance for assisting obstetrician in interpretations CTG signals and realizing intelligence fetal monitoring.
Humans
;
Pregnancy
;
Female
;
Cardiotocography/methods*
;
Deep Learning
;
Neural Networks, Computer
;
Algorithms
;
Fetal Monitoring/methods*
;
Heart Rate, Fetal
;
Fetal Distress/diagnosis*
;
Fetal Heart/physiology*
6.Clinical Characteristics and Risk Factors of Coronary Artery Disease in Patients with Hypertension and Persistent Atrial Fibrillation.
Jia-Qi BAI ; Yi-Ning LIU ; Rui-Zhe LI ; Zong-Bin LI
Chinese Medical Sciences Journal 2025;40(3):171-179
BACKGROUND AND OBJECTIVE: Hypertension (HT) and atrial fibrillation (AF) are highly prevalent cardiovascular conditions that frequently coexist. Coronary artery disease (CAD) is a major global cause of mortality. The co-occurrence of HT, AF, and CAD presents significant management challenges. This study aims to explore the clinical characteristics and risk factors associated with CAD in patients with HT and persistent AF (HT-AF). METHODS: In this retrospective cross-sectional study, data were collected from 384 hospitalized HT-AF patients at the People's Liberation Army General Hospital between January 2010 and December 2019. CAD diagnosis was confirmed by coronary angiography or computed tomography angiography. Clinical characteristics and comorbidities were compared between patients with and without CAD. Multivariate logistic regression analyses were performed to identify independent risk factors associated with CAD development. RESULTS: The prevalence of CAD among HT-AF patients was 66.41% (255/384). Cardiovascular complications, particularly heart failure (44.7% vs 25.6%, P < 0.05), were significantly more prevalent in the CAD group than in the non-CAD group. Only age was identified as an independent risk factor for CAD (adjusted OR: 1.047; 95% CI: 1.022-1.073; P = 0.000). Of all HT-AF patients, 54.7% had a CHA2DS2-VASc score of ≥4, indicating high stroke risk. There was a slightly higher anticoagulant usage rate in the CAD group than those without CAD (8.6% vs 4.7%, P = 0.157), and the overall anticoagulant usage remained low. CONCLUSION: There is a high prevalence of CAD among hospitalized HT-AF patients, among whom age is the sole independent risk factor for CAD. Despite a high stroke risk, the utilization of oral anticoagulants is alarmingly low.
Humans
;
Atrial Fibrillation/epidemiology*
;
Coronary Artery Disease/etiology*
;
Hypertension/epidemiology*
;
Male
;
Female
;
Risk Factors
;
Middle Aged
;
Retrospective Studies
;
Cross-Sectional Studies
;
Aged
;
Prevalence
7.Postoperative Complications and 30-day Readmission in Patients Older than 80 Years with Chronic Kidney Disease after Hip Fracture.
Hua-Wen ZHANG ; Lu-Lu MA ; Xue-Rong YU
Chinese Medical Sciences Journal 2025;40(3):188-196
OBJECTIVES:
This study aimed to explore the impact of chronic kidney disease (CKD) on prognosis of patients older than 80 years after hip fracture.
METHODS:
This retrospective, observational, single-center study included patients older than 80 years who underwent hip fracture operations between Feburary 2013 to June 2021 at our hospital. Patients were divided into CKD and non-GKD groups based on the estimated glomerular filtration rate (eGFR) < 60 mL/(min·1.73m2)] or not. Outcomes were the incidence of in-hospital postoperative infectious and non-infectious complications, 30-day readmission, and in-hospital death. Logistic regression analysis was used to calculate the odds ratio (OR) of CKD on these outcomes.
RESULTS:
A total of 498 patients were included, 165 in the CKD group and 333 in the non-CKD group. Eighty-seven (52.7%) CKD patients experienced 140 episodes of postoperative complications. In comparison, 114 (34.2%) non-CKD patients had 158 episodes of postoperative complications. CKD patients were more likely to have postoperative complications than non-CKD patients (OR = 2.143, 95% CI: 1.465-3.134, P < 0.001). CKD increased the risk of cardiovascular complications (OR = 2.044, 95% CI: 1.245-3.356, P = 0.004), acute kidney injury (OR = 3.401, 95% CI: 1.905-6.072, P < 0.001), delirium (OR = 2.276, 95% CI: 1.140-4.543, P = 0.024), and gastrointestinal bleeding (OR = 4.151, 95% CI: 1.025-16.812, P = 0.031). The transfusion rate (OR = 2.457, 95% CI: 1.668-3.618, P < 0.001) and incidence of 30-day readmission (OR = 2.426, 95% CI:1.203-4.892, P = 0.011) in CKD patients were significantly higher than those in patients without CKD.
CONCLUSIONS
CKD is associated with poor postoperative outcomes in geriatric hip fracture patients. Special attention should be paid to patients with CKD.
Humans
;
Renal Insufficiency, Chronic/physiopathology*
;
Aged, 80 and over
;
Postoperative Complications/epidemiology*
;
Hip Fractures/complications*
;
Male
;
Female
;
Patient Readmission/statistics & numerical data*
;
Retrospective Studies
;
Glomerular Filtration Rate
8.Larvicidal activity of Annona squamosa (Atis) leaves extract on Aedes aegypti
Marisol S. Molina-adorable ; Ramon Jason M. Javier
Health Sciences Journal 2025;14(1):12-17
INTRODUCTION
Effective mosquito control is pivotal in the epidemiology of vector-borne diseases, but no successful preventive measures have been recorded for dengue vector control. Hence, possible alternatives to chemical larvicides have been explored, including plant alcoholic extracts. This study determined the larvicidal efficacy of Annona squamosa ethanolic leaf extracts against third instar larvae of Aedes aegypti.
METHODSThree replicates of varying concentrations of Annona squamosa ethanolic extract (i.e., 10%, 40%, and 70%) versus positive (Novaluron) and negative controls (tap water) were used to determine larval mortality.
RESULTSGreatest larval mortality was noted using the 70% concentration (i.e., 24% versus the observed values of 20% and 8%, respectively for the 40% and 10% ethanolic concentrations). Relative to the controls, the mean differences in the mortality rates of the Aedes aegypti larvae across the leaf ethanolic concentrations were statistically significant (i.e., p-value < 0.05). There was increasing trend in larval mortality over time, but 50% lethal dose was not achieved. In conclusion, the different Annona squamosa ethanolic leaf extracts could be used as alternative botanical larvicides against Aedes species.
Plants ; Animals ; Epidemiology ; Mosquito Control
9.A recent situational analysis of the occupational safety and health landscape in the Philippines
Lea Elora A. Conda ; Celin Audrey V. Nuñ ; ez ; Dana Sophia Elizandra T. Uy ; Catherine S. Artaiz-cariaga ; Jhason John J. Cabigon ; Geminn Louis C. Apostol
Acta Medica Philippina 2025;59(10):21-29
OBJECTIVES
Workers are continuously exposed to occupational hazards and risks. By analyzing recent data on the status of occupational safety and health (OSH) in the Philippines, this study aimed to determine the common occupational injuries and diseases among Filipino workers, and preventive and control measures/activities and occupational safety and health policies and programs implemented across the country.
METHODSA review of data on Philippine OSH from the Integrated Survey of Labor and Employment (ISLE) by the Philippine Statistics Authority (PSA) covering data from 2015/2016, 2017/2018, and 2019/2020 was done. The number of occupational injury cases, types of injuries, and types of diseases were assessed as well as the implementation of OSH policies and programs. Descriptive statistics, simple T-test, and Pareto analysis were used to analyze the collated data sets.
RESULTSThe number of occupational injury and diseases in the Philippines across industries are decreasing. Superficial injuries and open wounds (56.47%), and Work-related Musculoskeletal Diseases (WMSDs) (61.82%) top the list as the most common injury and disease across industries, respectively. In 2018, OSH programs and preventive and control measures underwent reforms due to the implementation of the Republic Act (RA) 11058. For OSH programs, there is an increase in implementation between 2015 and 2019.
CONCLUSIONOccupational injury and occupational diseases in the Philippines across industries are declining. In terms of OSH measures and programs, there has been a significant change over the years, especially after the introduction of RA 11058 in 2018. A rise in the implementation of measures and policies was noted. However, there are still gaps that need to be addressed.
Occupational Medicine ; Occupational Health ; Public Health ; Preventive Medicine
10.Hesitancy towards COVID-19 booster vaccine and its associated factors among geriatric patients in a tertiary hospital in Region 1
The Filipino Family Physician 2025;63(1):26-32
BACKGROUND
The COVID-19 pandemic significantly impacted global health, especially among older adults at higher risk for severe illness. Despite the benefits of vaccination, booster vaccine hesitancy posed a barrier to optimal protection in the elderly population.
OBJECTIVEThis study aimed to identify factors associated with COVID-19 booster vaccine hesitancy among geriatric patients at the Family Medicine Outpatient Clinic of Region 1 Medical Center.
METHODSAn analytic, cross-sectional study was conducted with 183 geriatric patients aged 60 and above who had received the primary COVID-19 vaccine series. Data were collected using a 25-item questionnaire addressing sociodemographic information, medical history, COVID-19 knowledge, and vaccine attitudes. Statistical analyses, including chi-square tests and logistic regression, identified factors influencing booster vaccine hesitancy.
RESULTSThe majority of participants were between the ages of 60-69 (66.7%, n=122) and predominantly female (69.4%, n=127). High hesitancy rates were notably observed among elderly females (75.6%), individuals with lower educational attainment (79.7%), and single individuals (93.3%). Other significant factors included hypertension (76.5%) and the absence of prior influenza (81.5%) or pneumococcal (75.9%) vaccinations.
CONCLUSIONThese findings highlight the critical need for targeted educational efforts to mitigate COVID-19 vaccine hesitancy within specific subgroups, particularly elderly females, those with lower education levels, and individuals with certain health conditions. By implementing personalized outreach and emphasizing the advantages of vaccination, stakeholders can enhance vaccine uptake and improve health outcomes for this vulnerable segment of the population.
Human ; Vaccination Hesitancy ; Public Health ; Covid-19 ; Vaccines


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