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
6.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
7.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
8.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
9.Clinical, metabolic, and autoimmune characteristics of newly diagnosed young Filipino adults with diabetes mellitus.
Elizabeth PAZ-PACHECO ; Angelique Bea C. UY ; Angelique Love TIGLAO-GICA ; Anna Elvira S. ARCELLANA ; Aura Bree DAYO-LACDAO ; Cynthia P. CORDERO ; Cecilia A. JIMENO ; Ma. Cecille ANONUEVO-CRUZ ; Noel R. JUBAN
Acta Medica Philippina 2025;60(2):41-49
OBJECTIVES
In Asia, younger individuals (below age 45) are diagnosed to have type 2 diabetes with increased rates of obesity defined by lower BMI yet with greater visceral adiposity (waist circumference and waisthip ratios). The prevalence data on type 1 diabetes is not well established, considered to be low, but is seen to be increasing as well. This changing phenotype therefore, presents a clinical dilemma in terms of correctly classifying diabetes and deciding on the consequent appropriate treatment. Distinguishing type 1 from type 2 diabetes has become more difficult with type 2 diabetes dramatically increasing in young adults and children. This study aims to define the characteristics of diabetes among young adults in the Philippines to provide a basis for appropriate management amidst changes in diabetes phenotypes seen globally.
METHODSIn this cross-sectional analytic study, we characterized the demographic, metabolic, and autoimmune features of diabetes among young adult Filipinos aged 18 to 45 years old consulting at a tertiary referral center in Manila, Philippines. Baseline serum A1c, FBS, 75-g oral glucose tolerance test, insulin, serum C-peptide, insulin autoantibodies, leptin, adiponectin, lipid profile, and thyroid function tests were obtained from the participants and analyzed. The homeostasis model assessment (HOMA) was used to estimate the insulin sensitivity.
RESULTSA total of 348 patients with diabetes were included, with females comprising two-thirds of the participants. The mean age at diagnosis of diabetes was 35.9±7.22 years. The mean BMI was 28.12 kg/m2, with median waist to hip ratio (WHR) of 0·93. Metabolic syndrome was found in 60% of participants and 67.82% were obese by body mass index. The mean A1c was 9.07±2.52%. Good glucose control (A1c less than 7.0%) was seen in 23% of participants while nearly half (48%) had HbA1c which was >9.0%. The median levels of fasting insulin and C-peptide were 12.62 (range 1.33–90.42) mIU/L and 0.78 ng/mL (range 0–16.2), respectively.
Included participants were diagnosed with diabetes within a year and as such, majority did not have any micro- or macrovascular complications. The most common diabetes complication was sensory neuropathy detected by monofilament testing, which was found in 28% of participants, followed by non-proliferative diabetic retinopathy in 13%. A history of previous diabetic ketoacidosis was found in 10 patients (2.87%). Glutamic acid decarboxylase (GAD) and insulin auto-antibodies were found in 3.2% and 19.3% of participants, respectively. Approximately half (51.73%) of the participants were insulin resistant by HOMA-IR.
CONCLUSIONIn contrast with Caucasians and other Asians, diabetes among young Filipino adults is associated with lower BMI but with a similarly high visceral adiposity as shown by an elevated WHR. Metabolic syndrome with insulin resistance as defined by a variety of indices is predominant. Type 1 diabetes with autoantibodies occur in only a small fraction of this population. Data derived from this work can provide a framework for cluster analysis towards personalized management specific to this population.
Human ; Acids ; Adiponectin ; Adiposity ; Adult ; Aged ; Antibodies ; Asia ; Asian ; Asian Continental Ancestry Group ; Autoantibodies ; Body Mass Index ; C-peptide ; Carboxy-lyases ; Child ; Cluster Analysis ; Demography ; Diabetes Complications ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Diabetes Mellitus, Type 2 ; Diabetic Ketoacidosis ; Diabetic Retinopathy ; Diagnosis ; Fasting ; Female ; Glucose ; Glucose Tolerance Test ; Glutamate Decarboxylase ; Glutamic Acid ; Insulin ; Insulin Resistance ; Ketosis ; Leptin ; Lipids ; Metabolic Syndrome ; Obesity ; Patients ; Peptides ; Phenotype ; Philippines ; Population ; Prevalence ; Serum ; Therapeutics ; Thyroid Gland ; Thyroid Function Tests ; Young Adult
10.Current analysis of bloodstream infections in adult intensive care unit patients: a multi-center cohort study of China.
Shuguang YANG ; Yao SUN ; Ting WANG ; Hua ZHANG ; Wei SUN ; Youzhong AN ; Huiying ZHAO
Chinese Critical Care Medicine 2025;37(3):232-236
OBJECTIVE:
To analyze the clinical characteristics, microbiological analysis, and drug resistance patterns of intensive care unit (ICU) bloodstream infection.
METHODS:
A prospective cohort study method was employed to collect clinical data from patients suspected of bloodstream infection (BSI) during their stay in ICUs across 67 hospitals in 16 provinces and cities nationwide, from July 1, 2021, to December 31, 2022. Electronic data collection technology was used to gather general information on ICU patients, including gender, age, length of hospital stay, as well as diagnostic results, laboratory tests, imaging studies, microbiological results (including smear, culture results, and pathogen high-throughput testing), and prognosis. Patients were divided into a BSI group and a non-BSI group based on the presence or absence of BSI; further, patients with BSI were categorized into a drug-resistant group and a non-drug-resistant group based on the presence or absence of drug resistance. Differences in the aforementioned indicators between groups were analyzed and compared; variables with P < 0.10 in the univariate analysis were included in a multivariate Logistic regression analysis to identify risk factors for mortality and drug resistance in ICU patients with BSI.
RESULTS:
A total of 2 962 ICU patients suspected of BSI participated in the study, including 790 in the BSI group and 2 172 in the non-BSI group. Patients in the BSI group were mainly from East China and Southwest China, with significantly higher age and mortality rates than those in the non-BSI group. Among ICU patients with BSI, Staphylococcus had the highest detection rate (8.10%), followed by Klebsiella pneumoniae (7.47%); there were 169 cases in the drug-resistant group and 621 cases in the non-drug-resistant group; 666 cases survived, and 124 cases died (mortality was 15.70%). There were statistically significant differences between the death group and the survival group in terms of age, regional distribution, and bloodstream infections caused by Gram negative (G-) bacilli, Enterococcus faecium, Aspergillus, and Klebsiella pneumoniae; multivariate Logistic regression analysis showed that age [odds ratio (OR) = 1.01, 95% confidence interval (95%CI) was 1.00-1.03], regional distribution (OR = 4.07, 95%CI was 1.02-1.34), Enterococcus faecium infection (OR = 3.64, 95%CI was 1.16-11.45), and Klebsiella pneumoniae infection (OR = 2.64,95%CI was 1.45-4.80) were independent risk factors for death in ICU patients with BSI (all P < 0.05). There were statistically significant differences between the drug-resistant group and the non-drug-resistant group in terms of age and bloodstream infections caused by Gram positive (G+) cocci and G- bacilli; multivariate Logistic regression analysis showed that age (OR = 1.01,95%CI was 1.00-1.03), G- bacilli infection (OR = 2.18, 95%CI was 1.33-3.59), Escherichia coli infection (OR = 0.28,95%CI was 0.09-0.84), and Enterococcus faecium infection (OR = 3.35, 95%CI was 1.06-10.58) were independent risk factors for drug resistance in ICU patients with BSI (all P < 0.05).
CONCLUSIONS
Bloodstream infections may increase the mortality of ICU patients. Older age, regional distribution, Enterococcus faecium infection and Klebsiella pneumoniae infection can increase the mortality rate of ICU patients with BSI; bloodstream infections caused by G- bacilli are prone to drug resistance, but have no significant impact on the mortality of ICU patients with BSI.
Adult
;
Humans
;
Bacteremia/microbiology*
;
China/epidemiology*
;
Cohort Studies
;
Cross Infection/microbiology*
;
Drug Resistance, Bacterial
;
Intensive Care Units/statistics & numerical data*
;
Prospective Studies
;
Risk Factors
;
Sepsis/microbiology*


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