OBJECTIVES

The prevalence of metabolic syndrome among Filipino adults was found to be 12-19%. Diet has been one risk factor targeted to prevent complications. The association of each macronutrient component with metabolic syndrome remains unclear. There is no Philippine data on macronutrient intake and metabolic syndrome, thus, the primary objective of this study is to determine the association of food intake with metabolic syndrome among Filipino adults.

METHODS

This study utilized a cross-sectional design. Data were taken from the results of the 8th National Nutrition and Health Survey (NNHeS). Filipino adults from different regions who consented to participate and with complete anthropometric, biochemical and food recall data were included in this study.

RESULTS

There were 8,056 adults included in the study. The prevalence of metabolic syndrome was 32%. Multivariate analysis showed that increased total protein intake (OR 1.391) and increased daily consumption of meat and poultry (OR 1.397) were associated with increased risk for metabolic syndrome. On the other hand, decreased vegetable intake was associated with increased risk for metabolic syndrome, as well as higher socioeconomic status, female sex, and old age.

CONCLUSION

ncreased total protein intake and daily consumptions of meat, poultry, and decreased vegetable intake are associated with an increased risk for metabolic syndrome.

Human ; Male ; Female ; World Health Organization ; Metabolic Syndrome ; Health Surveys ; Economics ; Multivariate Analysis ; Female

OBJECTIVES

Epidemiology data on prolonged mechanical ventilation (PMV) and PMV patient features in the Philippines is lacking. This retrospective cross-sectional study aimed to determine the prevalence of PMV among intubated patients, describe patient characteristics and outcomes, and identify risk factors associated with PMV.

METHODS

A retrospective review of records was done on adult intubated patients admitted under the Medical Intensive Care Unit Service from July 2022 to June 2023. Various clinical characteristics and outcomes of PMV and non-PMV patients were collected, compared, and analyzed. PMV was defined as having MV for ≥6 hours per day
for >21 days.

RESULTS

Among 261 intubated ICU patients admitted, 75 (28.7%) required PMV. PMV patients were older (62 vs.
53.5), had higher Charlson Comorbidity Index scores (4 vs. 3), and required vasopressors (81.33% vs. 54.84%)
and blood products (93.33% vs. 51.08%) more often. Nosocomial infections (86.67% vs. 45.70%), ventila- tor-related (30.67% vs. 12.37%) and in-hospital (66.22% vs. 32.97%) complications developed more frequently.
Outcomes such as ICU length of stay (29.5 vs. 7 days) and hospital mortality (61.33% vs. 41.94%) were longer. Vasopressor use (OR 2.25, 95% CI 1.06-4.76), develop- ment of nosocomial infections (OR 6.20, 95% CI 2.64-
14.56), and development of in-hospital-related compli- cations (OR 2.20, 95% CI 1.13-4.30) were independent predictors of PMV.

CONCLUSION

In this single-center investigation, 28.7% of ICU patients required PMV. Knowledge of patient characteristics and risk factors aid in the development of interventions that improve outcomes and reduce PMV prevalence. Larger studies are recommended to assess nationwide PMV epidemiology and provide data on the need for step-down units for weaning.

Human ; Male ; Female ; Weaning ; Ventilation ; Tertiary Care Centers ; Length Of Stay ; Comorbidity

OBJECTIVES

A growing body of evidence points to a positive association between periodontitis and
various systemic diseases, including cardiovascular diseases (CVD), hypertension, and rheumatoid arthritis. However,
there is limited data on the prevalence and odds of having systemic conditions among Filipino periodontal patients.
Thus, this study aimed to determine the association of periodontal disease with systemic conditions among Filipino
patients at a university dental clinic.

METHODS

The periodontal and medical charts of all patients who underwent periodontal consult at a university
dental clinic within two academic years were reviewed. Periodontal diagnoses which had originally been assigned
using the 1999 classification of periodontal diseases were reclassified based on the 2018 European Federation
of Periodontology-American Academy of Periodontology classification. Listed medical conditions in the patients’
charts were self-reported. The prevalence of various systemic conditions in 715 periodontitis cases was compared
to that of 834 control patients without periodontitis. Fisher’s exact test was performed to evaluate the difference
in the prevalence of comorbidities between groups, while adjusted odds ratios (AOR) were computed using logistic
regression analysis, accounting for age, sex, educational attainment, and smoking status.

RESULTS

The prevalence of having at least one systemic condition was significantly higher among periodontitis patients
(44.5%) compared to non-periodontitis patients (36.3%). Compared to controls, a significantly higher number of
periodontitis cases had two systemic comorbidities (P=0.001). The prevalence of hypertension (18.6% versus 5.04%),
CVD including hypertension (20.42% versus 6.95%), arthritis (9.37% versus 3.0%), and diabetes mellitus (5.73% versus
0.84%) were all significantly higher in patients with periodontitis compared to non-periodontitis controls.
The odds of having CVD (AOR=1.81), hypertension (AOR=2.14) and diabetes (AOR=3.05) were higher in periodontitis cases. Meanwhile, the prevalence of asthma (9.23% versus 5.31%), respiratory diseases including asthma (12.95% versus 8.25%), and allergies (18.82% versus 13.71%) were significantly higher in non- periodontitis patients compared to periodontitis cases.

CONCLUSION

Periodontitis patients were more likely to present with CVD, hypertension, and diabetes mellitus. On the other hand, no association was found between periodontitis and respiratory diseases, as well as between periodontitis and asthma.

Human ; Male ; Female ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Aged: 65-79 Yrs Old ; Regression (psychology) ; Respiratory Tract Diseases ; Regression Analysis ; Periodontal Diseases ; Cardiovascular Diseases

OBJECTIVES

his quantitative cross-sectional study aimed to determine the level of knowledge, attitude, and practices
regarding COVID-19 vaccination of unvaccinated adult patients admitted at Region II Trauma and Medical Center
(R2TMC). This may help determine the knowledge gap regarding COVID-19 vaccination, address it, and to achieve
the goal to vaccinate all eligible Filipinos. Furthermore, this may also be a springboard for future researches and
management regarding novel infections needing new vaccinations.

METHODS

Collected data from the sample size of 197 using the formula for finite population with 95% confidence
level, population proportion of 50%, population size of 400, allowing 5% margin of error were summarized in a
Microsoft excel database and tables, then were analyzed using Jamovi version 2.6.22 software. Frequency, mean,
and standard deviation were calculated to measure the knowledge, attitude, and practices; Pearson correlation and
Kendall’s Tau b correlation for its relationship.

RESULTS

There is moderate level of knowledge (MS: 9.80-11.8), a positive attitude (MR: 2.35-2.60), and good preventive
practices (MS: 12.00-13.00) regarding SARS-CoV-2 (COVID-19) vaccination among the unvaccinated adult in-patients
of R2TMC post-pandemic. Knowledge, attitudes, and practices statistically differed (pCONCLUSION

There is a significant correlation among the knowledge of the respondents about COVID-19 vaccination,
their attitude towards it, and their practices, implying that promoting preventive behaviors toward COVID-19 would
require promoting both knowledge and efficacy beliefs among the public.

Human ; Bacteria ; Male ; Female ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Wounds And Injuries ; Population Density ; Cross-sectional Studies ; Forecasting ; Sars-cov-2 ; Sars Virus ; Covid-19

Gout is the most common inflammatory arthritis among Filipinos, characterized by hyperuricemia leading to mono- sodium urate crystal deposition and an ensuing inflammatory response. Though typically a disorder of middle- aged and older adults, tophaceous gout presenting before the age of 30 is rare and suggests aggressive disease progression. Allopurinol, a first-line urate-lowering therapy, is generally effective but may cause rare, potentially life-threatening adverse reactions such as allopurinol hypersensitivity syndrome (AHS). Febuxostat, a non-purine xanthine oxidase inhibitor, is an alternative for patients intolerant to allopurinol. Although hypersensitivity reactions to febuxostat are extremely rare, isolated case reports document their occurrence in both patients with prior AHS and in allopurinol-naïve individuals. Hypersensitivity to both agents is exceedingly uncommon and presents a major therapeutic challenge. In such cases, febuxostat desensitization, conducted in collaboration with allergy specialists, may permit a viable solution to safely reintroduce urate-lowering therapy and prevent further disease progression. This case report describes a patient with young-onset, tophaceous gout who developed severe hypersensitivity reactions to both allopurinol and febuxostat — an unusual and challenging therapeutic dilemma. The case highlights the need for individualized management strategies, including the consideration of drug desensitization, in patients with limited urate-lowering options.

Human ; Male ; Adult: 25-44 Yrs Old ; World Health Organization ; Therapeutics ; Specialization ; Solutions ; Research Report ; Pharmaceutical Preparations

Diffuse infiltrating retinoblastoma is an extremely rare form of retinoblastoma which is characterized by its atypical growth pattern. This unusual presentation adds complexity to the diagnostic process. The purpose of this paper is to report a rare presentation of diffuse infiltrating retinoblastoma presenting after an ocular trauma. We described a 7-year-old Filipino boy presenting with total hyphema following an ocular trauma. Comprehensive ophthalmologic clinical and diagnostic evaluations were performed including visual acuity, slitlamp biomicroscopy, ocular ultrasound, neuroimaging, and histopathology post enucleation to determine diagnosis. The misleading, atypical presentation of diffuse infiltrating retinoblastoma may delay diagnosis. While this dilemma is expected in these scenarios, it should be remembered that timing of diagnosis in retinoblastoma is crucial, as this also equates to optimal management. One should remain vigilant for these uncommon presentations especially in the setting of any intraocular inflammation in children.

Human ; Male ; Child: 6-12 Yrs Old ; Wounds And Injuries ; Visual Acuity ; Retinoblastoma ; Research Report ; Neuroimaging ; Inflammation ; Hyphema ; Contusions

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of five children with Lamb-Shaffer syndrome (LAMSHF). METHODS: Five children with LAMSHF diagnosed at the Department of Pediatrics, the First Medical Center of Chinese PLA General Hospital from April 2021 to December 2024 were selected as study subjects. Clinical data of the children was collected. Genomic DNA was extracted from peripheral blood samples of the children and their parents. Whole exome sequencing (WES) was carried out to screen for variants. This study was approved by the Medical Ethics Committee of the Chinese PLA General Hospital (Ethics No.: S2025-411-01). RESULTS: All five children had presented with global developmental delay. Among them, two had manifestations of autism spectrum disorder, two had abnormal electroencephalogram findings, four had abnormal MRI results, and two had ocular abnormalities. WES has detected five novel variants in the SOX5 gene. Among these, c.1771G>C (p.Gly591Arg) was unreported previously. Sanger sequencing confirmed that none of the parents had carried the same variants, suggesting that they were all de novo variants. According to the guidelines from the American College of Medical Genetics and Genomics (ACMG), two nonsense variants and one missense variant were classified as pathogenic, whilst two missense variants were classified as likely pathogenic. CONCLUSION This study has clarified the correlation between the clinical phenotypes of five children with LAMSHF and variants of the SOX5 gene, which expanded the mutational spectrum of the SOX5 gene and provided a basis for the clinical diagnosis and genetic counseling.
Humans ; Male ; Female ; Phenotype ; Child, Preschool ; Child ; SOXD Transcription Factors/genetics* ; Exome Sequencing ; Mutation ; Infant

OBJECTIVE: To explore the genetic variants and phenotypic characteristics of patients with Neurofibromatosis type I (NF1). METHODS: Twenty two NF1 patients who presented at Enze Medical (Center) Group in Taizhou between 2018 and 2024 were selected as the study subjects. Clinical phenotype and family history were collected for the patients. Whole exome sequencing (WES) was carried out for the 22 probands to screen the variants of NF1 gene. Candidate variants were verified by Sanger sequencing of their family members. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: K20230902). RESULTS: The 22 probands were diagnosed between the age of 5 months to 47 years old, and have all shown cafe au lait spots on their skin. Seventeen patients exhibited the phenotype at birth, and 11 had various degrees of neurofibromatosis. Among them, probands 1 and 13 underwent surgical resection of the tumor but had recurred, while proband 12 had amputation due to the huge size and serious impact of the neurofibroma and had no recurrence. Five patients had various degrees of scoliosis. In total 22 germline mutations and one somatic mutation were identified among the 22 families, with 5 variants unreported previously, including 1 nonsense mutation c.1603C>T (Q535*), 3 frameshift mutations [c.7268_7269delCA (Thr2423fs), c.2293del (Arg765Alafs*26), and c.5433_5438delinsGC (Phe1812ArgfsTer50)], and 1 deletion involving exons 41-44 of the NF1 gene and adjacent introns. Proband 13 was found to harbor germline mutation c.6796C>T (Gln2266Ter) and somatic mutation c.1019_1020del (Ser340Cysfs Ter12) in the peripheral blood and tumor tissue, respectively. Among the 22 NF1 probands, 6 had received treatment due to severe illness. Proband 1 had tumor resection in the right upper limb, but was found to have malignant lung tumor and died during follow-up. Proband 12 had multiple recurrence of neurofibroma in the left ring finger. Proband 4 underwent spinal correction surgery due to severe scoliosis. Proband 11 had died due to a central nervous system disease. Among the 22 germline mutations, 6 had led to the occurrence of truncated proteins, which may have a more severe impact on the phenotype. CONCLUSION This study investigated the genetic variants and clinical phenotypes of 22 NF1 families and identified 5 novel variants of the NF1 gene, which has expanded the genotypic and phenotypic spectra of the NF1. Preliminary studies have identified an association between truncated mutations, young age, and severe phenotypes, which may provide important clues for prognosis evaluation. For the clinical diagnosis and treatment of NF1, it is necessary to consider the phenotypic characteristics and genetic testing in combination with genetic counseling and long-term follow-up.
Humans ; Neurofibromatosis 1/pathology* ; Male ; Female ; Pedigree ; Adult ; Child ; Child, Preschool ; Middle Aged ; Adolescent ; Infant ; Young Adult ; Neurofibromin 1/genetics* ; Phenotype ; Asian People/genetics* ; Mutation ; Exome Sequencing ; East Asian People

OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

OBJECTIVE: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. METHODS: A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056). RESULTS: The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered. CONCLUSION Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child ; Humans ; Male ; 46, XX Disorders of Sex Development/genetics* ; DNA Copy Number Variations ; Gene Duplication ; Phenotype ; SOXB1 Transcription Factors/genetics*