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.Advancing the role of higher education institutions in attaining the health-related sustainable development goals: Proceedings of the 53rd Asia Pacific Academic Consortium for Public Health, 21-23 September 2022, Philippines
Maria Margarita M. Lota ; Paul Michael R. Hernandez ; Vivien Fe F. Fadrilan-camacho ; Fresthel Monica M. Climacosa ; Francis Andrew B. Cube ; Kim Leonard G. Dela luna ; Crystal Amiel M. Estrada ; Emerito Jose A. Faron ; Fernando B. Garcia jr. ; Myra S. Mistica ; Frederick S. Nieto ; Sharon Yvette Angelina M. Villanueva ; Vicente Y. Belizario jr.
Acta Medica Philippina 2025;59(4):10-13
Higher Education Institutions (HEIs) are acknowledged as key drivers in realizing health-related Sustainable Development Goals (SDGs). The University of the Philippines Manila, College of Public Health (UP CPH) together with the Asia-Pacific Academic Consortium for Public Health (APACPH), hosted the 53rd APACPH International Conference last 21-23 September 2022. The conference discussed current issues relating to the attainment of SDGs and promoted collaboration of leading academic institutions and other stakeholders in addressing various public health challenges. The conference revolved around the challenges and opportunities in attaining health-related SDGs, and the good practices and roles of HEIs in addressing health disparities. The lack of certificati on framework of public health tertiary programs, pedagogy and infrastructure, and ambiguous roles and network of public health professionals were discussed. The conference served as a platform for discussing potential resolutions and ways forward in addressing these challenges. Opportunities for improvement such as updating of policies and curricula, strengthening of internship and community engagement programs, establishment of capacity-building partnerships and programs, and developing multidisciplinary-competent faculty and students were identified. This paper providesthe highlights of the conference focusing on the good practices and roles of HEIs in addressing health disparities, the impact of COVID-19 pandemic, and other issues and challenges in attaining SDGs.
Human ; Sustainable Development ; Sustainable Development Goals ; Public Health
6.Health protocol practices and personal preventive measures among fully vaccinated individuals with comorbidities in the National Capital Region, Philippines during the COVID-19 pandemic: A mixed-method study
Maria Luisa Olano ; Matthew Spencer T. Ho ; Mareeya P. Yumena ; Diana Leah Mendoza ; Patricia Anne C. Ty ; Erin Grace B. Villanueva ; Christine Rozien M. Palayad ; Jaye Kirsten U. Melchor ; Chrissea B. Custodio
Acta Medica Philippina 2025;59(4):26-41
BACKGROUND AND OBJECTIVE
The Philippine Inter-Agency Task Force for the Management of Emerging Infectious Diseases implemented health protocol guidelines to reduce the risk of COVID-19 transmission. Individuals with comorbidities were advised to take precautionary measures due to their increased vulnerability. This study aimed to assess the relationship between knowledge, acceptance, and adherence to health protocols among fully vaccinated individuals with comorbidities in the National Capital Region, Philippines.
METHODSThe study employed an explanatory-sequential mixed-method design. The quantitative phase involved an online survey with 384 respondents. The survey included questions on socio-demographic profile, COVID-19 knowledge, acceptability of health protocols, and adherence to preventive practices. Chi-square Test of Independence and Pearson’s Correlation Test were used to analyze the data. Semi-structured interviews were conducted with 11 participants, providing rich insights into their personal experiences. The interview transcripts were analyzed using Colaizzi’s descriptive method with the aid of qualitative analysis software (MAXQDA), ensuring a rigorous approach to thematic analysis. The integration of the two phases was achieved by connecting quantitative results with qualitative insights, creating a comprehensive understanding of the phenomena under study.
RESULTSFindings showed that the relationship of sociodemographic characteristics and level of knowledge (Gender pCONCLUSION
The study suggests that multiple factors contribute to non-adherence to health protocols. Recognizing these holes and weaknesses in the COVID-19 pandemic response stresses the need for national leaders to place urgency on properly implementing preventive measures and providing health education to the masses during public health situations. Collaboration from all sectors is crucial in addressing public health crises. This study can be a valuable resource for future researchers, local government units, and policymakers in prioritizing public health care and pandemic preparedness.
Human ; Comorbidity ; Covid-19 ; Public Health Practice ; Vaccines
7.Clinicopathologic profile and outcomes of pediatric patients managed with open and laparoscopic cholecystectomy: A two-center experience
Monica Bianca C. Balictar ; Patrick U. Avellano ; Pia Cerise V. Creencia ; Franco Antonio C. Catangui ; Jose Modesto B. Abellera ; Nino P. Isabedra ; Russel Alegarbes ; Dorothy Anne D. Lopez
Philippine Journal of Surgical Specialties 2025;80(1):8-19
OBJECTIVE
This seven-year, two-center retrospective cross-sectional study aimed to describe the demographic, clinical characteristics and surgical indications of patients managed with open or laparoscopic cholecystectomy in the pediatric age group, and determine these variables’ associations with patient outcomes.
METHODSRecords of all patients less than 19 years old who underwent laparoscopic or open cholecystectomy at Jose R. Reyes Memorial Medical Center (JRRMMC) and National Children’s Hospital (NCH) from January 2015 to December 2021 were reviewed. The gathered data were organized, described and analyzed using univariate and multivariate statistics.
RESULTSA total of 32 patients underwent open or laparoscopic cholecystectomy at the two institutions. Majority were female (78.1%). The diagnoses included chronic calculous cholecystitis (62.5%), acute calculous cholecystitis (21.9%), choledocholithiasis (12.5%). One (3.1%) patient had empyema of the gallbladder. The 15 – 18 year age group made up 78.1%, with the rest (21.9%) from the 10 – 14 year age group. By BMI percentile, 62.5% were normal, 15.6% were overweight, and 12.5% were obese. Most patients across all conditions (96.9%) had no known hemolytic disorder. Underweight patients (9.4% of the cohort) had statistically higher lengths of stay [F(3,28) = 3.444, p = .030]. No significant associations were found between the categorical outcomes (discharged well, morbidity, mortality) and patient variables (age group, sex, BMI percentile, presence of co-morbidities, symptoms, indication for surgery, operation done).
CONCLUSIONIn pediatric patients undergoing laparoscopic or open cholecystectomy, BMI percentile is inversely related to the length of hospital stay.
Human ; Cholecystectomy ; Gallbladder Diseases ; Demography
8.Filipino translation and cross-cultural adaptation of the diabetic foot knowledge subscale (DFKS) and foot self-care behavior scale (FSCBS) and its content validation and reliability testing
Aaron Patrick S. Manalo ; Aliyah Renee P. Quizon ; Jocel M. Regino ; Lia Katrina L. Lopez ; Mary Margaret Louise C. Quimson ; Justine Ann Marie V. De lara ; Christian Rey D. Rimando ; David Benjamin L. Ang
Acta Medica Philippina 2025;59(Early Access 2025):1-14
BACKGROUND
Type 2 diabetes is the most common type of diabetes in the Philippines. Diabetic foot complications represent a prevalent and significant chronic concern for individuals with type 2 diabetes. This poses an immediate community health concern, as diabetic complications may threaten an individual's well-being.
OBJECTIVEThis study intends to cross-culturally adapt the Diabetic Foot Knowledge Subscale (DFKS) and Foot Self-Care Behavior Scale (FSCBS) questionnaires into the Filipino language as an assessment tool among Filipinos with diabetes.
METHODSThe study employed a psychometric research design, where it entailed Phase A and Phase B. Phase A involved the forward translation of the DFKS and FSCBS questionnaires, followed by the synthesis of the translations and backward translation. Subsequently, an expert committee reviewed the translations and concluded the final version. The final translated versions of the questionnaires ensured that it can be understood by an individual who has a Grade 6 level of reading proficiency. Phase B entailed the validity testing with the evaluation of the expert committee, and reliability testing of the said questionnaires with a sample size of 30 participants. A wash-out period of 24 hours was given for the test-retest reliability, followed by data analysis. The validity and reliability of the questionnaires were measured using the item and scale content validity indices and the internal consistency and test-retest reliability, respectively, to ensure their accuracy and appropriateness. The content validity of the questionnaires was evaluated individually by the experts using a Likert scale from 1-4, with 4 being the highest meaning the item was very relevant and succinct. Scores per item were between 3 and 4, which indicate that the translated version of the items were relevant and succinct or were relevant but needed minor revisions.
RESULTSThe validity scores for the translated DFKS and FSCBS questionnaires were obtained using the Scale Content Validity Index (S-CVI) with a score of 0.96 and 0.92, respectively. Moreover, all items in the questionnaires obtained an Item Content Validity Index (I-CVI) of 0.88-1.00. The DFKS also has an acceptable internal consistency with a Cronbach’s alpha of 0.72, while the FSCBS has a good internal consistency with a Cronbach’s alpha of 0.85. The test-retest reliability shows an acceptable Spearman’s correlation at 0.76 for the DFKS and a strong positive Pearson correlation coefficient at 0.73 for the FSCBS.
CONCLUSIONThe validity of the two questionnaires was acceptable and the test-retest reliability showed a strong positive correlation among the items thereby making the cross-cultural adaptation of the questionnaires successful. The Filipino versions of the DFKS and FSCBS questionnaires accurately measure the knowledge and behavior of individuals with type 2 diabetes, respectively.
Human ; Diabetes Mellitus, Type 2 ; Diabetic Foot ; Public Health ; Cross-cultural Comparison
9.Lip and oral cancers in East Asia from 1990 to 2035: trends of disease burden and future projections.
Yitong LIU ; Ke ZHAO ; Xiaodong WANG
Journal of Southern Medical University 2025;45(7):1554-1562
OBJECTIVES:
To analyze the trends of disease burden of lip and oral cancers in East Asia from 1990 to 2021 and its future projections.
METHODS:
We used the Global Burden of Disease 2021 database to conduct a comprehensive analysis of disease burden data from China (including Taiwan Province of China), Japan, Republic of Korea, Democratic People's Republic of Korea and Mongolia. The data were stratified by age, gender and major risk factors, and a Bayesian age-period-cohort model was employed to predict the future trends.
RESULTS:
From 1990 to 2021, the burden of lip and oral cancers in East Asian countries exhibited a steady increase. Taiwan Province of China experienced the most significant increases in incidence, prevalence, mortality, and disability-adjusted life years (DALYs), while Mongolia saw a decline in both mortality and DALYs. In 2021, Taiwan Province of China reported the highest rates of lip and oral cancer incidence (27.50 per 100 000), prevalence (137.92 per 100 000), mortality (9.59 per 100 000), and DALYs (292.07 person-years per 100 000), particularly among male and elderly populations. Tobacco use and alcohol consumption significantly exacerbated the disease burden in Taiwan Province of China and Japan. Future projections indicate that the incidence and prevalence of lip and oral cancer in China (excluding Taiwan Province of China) will continue to rise, while their mortality rates are expected to decline in most regions, except for Taiwan Province of China and Democratic People's Republic of Korea.
CONCLUSIONS
By the year 2035, the disease burden of lip and oral cancers in East Asia is expected to continue to increase, especially in Taiwan Province of China. To address this challenge, it is essential to implement effective measures to control major risk factors, promote early screening, and ensure equitable distribution of healthcare resources.
Humans
;
Mouth Neoplasms/epidemiology*
;
Incidence
;
Lip Neoplasms/epidemiology*
;
Asia, Eastern/epidemiology*
;
Male
;
Disability-Adjusted Life Years
;
Prevalence
;
Female
;
Forecasting
;
Risk Factors
;
Cost of Illness
;
Middle Aged
;
Global Burden of Disease
;
Aged
;
Bayes Theorem
10.Racial differences in treatment and prognosis of gastric signet ring cell carcinoma: analysis based on SEER and TCGA databases.
Shangping FANG ; Jiameng LIU ; Xingchen YUE ; Huan LI ; Wanning LI ; Xiaoyu TANG ; Pengju BAO
Journal of Southern Medical University 2025;45(8):1706-1717
OBJECTIVES:
To analyze the differences in the prognosis of gastric signet ring cell carcinoma (SRCC) among different races using the US Surveillance Epidemiology and End Results (SEER) database and The Cancer Genome Atlas (TCGA) database.
METHODS:
We analyzed the data of patients with gastric SRCC from the SEER database from 2000 to 2020, and divided the patients into cohorts of whites, blacks, Asians or Pacific Islanders, American Indians/Alaska Natives according to their race. The prognosis and treatment of the cohorts were evaluated using baseline demographic analysis, Kamplan-Meier survival curve, and nomogram analysis.
RESULTS:
We analyzed the data of a total of 2058 patients, including 8.6% blacks, 72.4% whites, 16.6% Asians or Pacific Islanders, 1.0% American Indians/Alaska Natives, and 1.4% other races. The tumor grade varied among different races, and the prevalence and survival rates of patients differed significantly across races. The differences in the white cohort were the most prominent, and all the differences were statistically significant (P<0.05). Racial differences were also noted in patient management and prognosis.
CONCLUSIONS
There are racial differences in tumor grades and prognosis of gastric SRCC, and these differences provide evidence for optimizing clinical diagnosis and treatment strategies for this malignancy.
Aged
;
Female
;
Humans
;
Male
;
Middle Aged
;
Carcinoma, Signet Ring Cell/therapy*
;
Databases, Factual
;
Prognosis
;
Racial Groups
;
SEER Program
;
Stomach Neoplasms/therapy*
;
Survival Rate
;
United States/epidemiology*
;
White
;
Asian American Native Hawaiian and Pacific Islander
;
American Indian or Alaska Native
;
Black or African American


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