OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

BACKGROUND AND OBJECTIVE

Foreign body (FB) ingestion is a common pediatric concern in the Philippines, but local studies on flexible endoscopic management are lacking. This study aimed to describe the clinical profile and outcomes of children referred for flexible endoscopic management and identify factors associated with poor outcomes.

METHODS

This retrospective cohort study included 145 patients aged

RESULTS

Most FB ingestions (96.55%) were accidental, with coins as the most common FB (56.55%). Patients were admitted an average of 40.42 hours post-ingestion and referred for endoscopy within 9.28 hours. Flexible endoscopy was performed in 44.83% of cases, with a 98.46% success rate and an average procedure time of 32.25 minutes. Spontaneous passage occurred in 50.34% of cases. Poor outcomes were linked to age 48 hours; OR: 15.43, p = 0.0181), and prolonged procedures (>30 minutes; OR: 12, p = 0.0318). Good outcomes were associated with unremarkable physical exams (OR: 0.078; p = 0.0018), early admission (CONCLUSION

Flexible endoscopy is effective and safe for FB extraction in children. Early admission and timely intervention significantly improve outcomes, while delays and prolonged procedures increase the risk of complications.

Human ; Adolescent: 13-18 Yrs Old ; Child: 6-12 Yrs Old ; Foreign Bodies ; Endoscopy ; Child ; Retrospective Studies ; Aged ; Cohort Studies ; Eating ; Methods ; Numismatics ; Patients ; Philippines ; Physical Examination ; Time

INTRODUCTION

Hypertension is a serious public health issue that puts individuals at risk for various morbidity and mortality indicators. One of the most crucial factors in managing blood pressure and preventing complications is medication adherence which is linked to several determinants. This study explored the correlation between medication adherence among middle-aged hypertensive adults and the different domains of quality of life (QOL), which includes physical, psychological, social relationship and environment.

METHODS

This cross-sectional study involved 96 Filipino residents of Brgy. San Jose, Navotas City aged 35 to 65 years old diagnosed with hypertension and prescribed anti-hypertensive medications. Pearson’s correlation coefficient was used to calculate the correlation between different domains of QOL as well as the overall QOL score.

RESULTS

Results revealed a statistically significant but weak positive correlation between overall QOL and medication adherence (r = 0.336, p<0.001). Among the QOL domains, environmental domain had the strongest correlation with adherence (r = 0.446, p = 0.00), followed by physical health (r = 0.443, p = 0.01) and psychological well-being (r = 0.382, p = 0.01). The social relationship domain showed negligible correlation (r = 0.163, p = 0.4).

CONCLUSION

The study demonstrates that while medication adherence is modestly associated with better perceived QOL, especially in physical, psychological and environmental aspects, other factors likely influence both outcomes. These findings highlight the need for holistic, community-based interventions that address not only medication adherence but also environmental and psychosocial barriers to care in managing hypertension.

Human ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Aged: 65-79 Yrs Old ; Quality Of Life ; Public Health ; Medication Adherence ; Antihypertensive Agents ; Blood Pressure ; Interpersonal Relations

OBJECTIVES

Adiposity rebound (AR), the childhood period at which body mass index (BMI) rises from its lowest point, is linked to increased risk of later obesity. The study aims to determine the average age at AR, describe baseline characteristics and analyze the correlation between these characteristics and timing of AR in a population of Filipino pediatric outpatients.

DESIGN

Seven subjects born between 2016 and 2019 from a University Hospital Outpatient Department participated in this cross-sectional analytic study. Childhood anthropometrics were retrospectively collected to determine the age at AR by plot visual inspection. Sex, birth weight and gestational age were obtained from hospital records; breastfeeding duration, maternal BMI, parental obesity, maternal age, maternal smoking, education, parity and family income were gathered through a questionnaire completed by mothers or guardians. Associations were assessed using bootstrap univariate linear regression.

RESULTS

The mean age at AR was 3.2 years (SD = 1.2). Vaginal delivery was significantly associated with later age at AR compared to cesarean section (p = 0.035). Socioeconomic status at ages 2 to 5 showed positive association with delayed AR. Higher monthly family income (≥₱19,000) at ages 2 to 5 years was significantly associated with delayed age at AR. Other baseline childhood and parental factors showed no significant correlation with age at AR.

CONCLUSION

These results highlight the complex and context-dependent nature of AR, emphasizing the need for further studies to better understand and mitigate early obesity risk in Filipino children.

Human ; Young Adult: 19-24 Yrs Old ; Universities ; Regression (psychology) ; Hospital Records ; Gestational Age ; Body Mass Index ; Obesity, Maternal

OBJECTIVES

Clinical pathways (CPs) ensure adherence to heart failure (HF) management guidelines. To optimize quality care in a low resource setting, an evidence-based care pathway for the management of acute HF was implemented at the emergency department (ED) of the Philippine General Hospital (PGH), the designated national tertiary hospital and referral center. This study aimed to describe the characteristics of adults with acute HF admitted at the ED and evaluate the quality of care they received, measured using physician adherence to the hospital’s acute heart failure CP.

METHODS

This was a retrospective, descriptive cohort study. We reviewed the inpatient charts of all adult patients with acute HF admitted to the ED of the PGH and referred to the Division of Cardiovascular Medicine between December 1, 2022 and May 31, 2023. Quality of care was assessed based on adherence to quality indicators adapted from routine and conditional order sets detailed in the pathway. Descriptive statistics was utilized to describe patient characteristics, quality of care, and outcomes.

RESULTS

Two hundred thirty-six (236) patients were included, with a mean age of 51.8 years. Majority were male (53.4%); hypertension (61.4%) and ischemic heart disease (53.8%) were the most common comorbidities, and infection the most common precipitant of decompensation (60.6%). There were optimal adherence rates to routine orders, which included referrals to Internal Medicine and Cardiology, baseline vital signs monitoring, fluid intake and output monitoring, chest radiograph, complete blood count, blood urea nitrogen, sodium, potassium, prothrombin time, partial thromboplastin time, arterial blood gas, urinalysis, and N-terminal pro b-type natriuretic peptide. Conditional orders, such as oxygen support, focused echocardiography, thyroid - stimulating hormone, and the use of vasopressors, diuretics, and venous thromboembolism prophylactic agents, were optimally performed when warranted. However, we noted suboptimal adherence to certain resource-intensive conditional orders, such as hourly monitoring of urine output (61.4%), hooking to cardiac monitor (53.8%), and performance of 12-lead ECG within 10 minutes (56.8%). Further, only 43.9% of patients were referred to the intensive care unit. Troponin I, calcium, magnesium, and albumin were ordered in excess.

CONCLUSION

Overall adherence rate of physicians to the hospital’s Acute Heart Failure Pathway was satisfactory. Work is needed to improve adherence to hourly urine output monitoring, consistent hooking to cardiac monitor, and timely performance of 12-lead ECG – an effort that begins with expanding in-hospital diagnostic equipment and human resource supply. We recommend continuous pathway implementation with periodic evaluation and stakeholder feedback to further improve quality of care.

Human ; Male ; Female ; Middle Aged: 45-64 Yrs Old ; Adult ; Albumins ; Blood ; Blood Urea Nitrogen ; Calcium ; Cardiology ; Chart ; Charts ; Cohort Studies ; Critical Care ; Critical Pathways ; Diagnostic Equipment ; Disease ; Diuretics ; Echocardiography ; Electrocardiography ; Emergencies ; Emergency Service, Hospital ; Equipment And Supplies ; Evaluation Studies As Topic ; Feedback ; Heart ; Heart Diseases ; Heart Failure ; Hormones ; Hospitals ; Hospitals, General ; Humans ; Hypertension ; Indicators And Reagents ; Infection ; Infections ; Inpatients ; Intensive Care Units ; Internal Medicine ; Lead ; Magnesium ; Male ; Medicine ; Myocardial Ischemia ; Natriuretic Peptide, Brain ; Natriuretic Peptides ; Nitrogen ; Overall ; Oxygen ; Partial Thromboplastin Time ; Patients ; Peptides ; Philippines ; Physicians ; Potassium ; Prothrombin ; Prothrombin Time ; Quality Of Health Care ; Referral And Consultation ; Sodium ; Statistics ; Tertiary Care Centers ; Thorax ; Thromboembolism ; Thromboplastin ; Thyroid Gland ; Time ; Troponin ; Troponin I ; Universities ; Urea ; Urinalysis ; Urine ; Venous Thromboembolism ; Vital Signs ; Work ; Workforce

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.

METHODS

In 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.

RESULTS

A 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.

CONCLUSION

In 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

This is the case of a 62-year-old male with prior modified Bentall’s procedure using a 23-mm bioprosthetic valve last 2013 who came in with progressive heart failure symptoms. On physical examination, vital signs are stable. Physical exam revealed rhonchi on both lung fields and irregular rhythm with a grade 3 systolic ejection murmur at the aortic area. A 2-dimensional transthoracic echocardiogram showed an ejection fraction of 25%, aortic valve area of 1.0 cm2 and mean gradient of 21 mmHg consistent with severe low-flow, low-gradient aortic stenosis (AS). Options for re-do surgical aortic valve replacement (SAVR) were discussed. Since the patient was deemed high risk for another surgery, the option for transcatheter aortic valve in surgical aortic valve (TAV-in-SAV) was considered. The patient underwent successful TAV-in-SAV using a 26-mm self-expanding bioprosthetic valve. Post-procedure, there was significant improvement of functional capacity from class IV to class I.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; World Health Organization ; Vital Signs ; Respiratory Sounds ; Research Report ; Physical Examination ; Constriction, Pathologic ; Aortic Valve Stenosis

BACKGROUND

Blood pressure is an important vital sign measured not only in hypertension but also among hospitalized patients for clinical evaluation of the actual hemodynamic status. In the digital era, mercury and aneroid sphygmomanometers are being replaced by automated monitors despite lacking validation and recommendations for their use, especially in acute illness.

OBJECTIVE

To compare automated and manual blood pressure measurement among hospitalized medical patients with acute illness.

METHODS

A crossover design was used in a single tertiary hospital. Blood pressure was recorded from 216 participants, with 432 observations from an automated monitor (Omron HBP1120) and a mercury sphygmomanometer. Automated and manual BP recordings were done twice following the same arm sequential method. The average of the two recordings was used for comparison.

RESULTS

Most participants were female, elderly, obese, and had cardiac complaints. Comparing automated and manual methods, the mean difference for systolic was 1.47 ± 12.12 (p = 0.08) and 1.82 ± 10.99 (p=0.02) for diastolic. Subgroup analysis revealed that males had higher manual systolic BP than females (pairwise p-value= 0.017). Overweight and obese participants had higher automated systolic and diastolic BP (p=0.04). Overweight and obese participants had significantly higher systolic and diastolic BP regardless of the method. Significantly higher diastolic BP for different age groups and areas of admission (p=0.02) were observed from the automated method.

CONCLUSION

Automated BP monitoring showed a significant difference in diastolic BP recordings. Automated BP monitors should be used with caution, especially in interpreting diastolic BP among hospitalized patients.

Human ; Blood Pressure ; Sphygmomanometers

OBJECTIVES

This study aims to describe the micronutrient intake and diet quality of overweight and obese Filipino adults in the National Capital Region (NCR). Specifically, it seeks to assess micronutrient inadequacy among these individuals and analyze differences in food intake based on their sociodemographic profiles and lifestyle habits.

METHODS

This analytical cross-sectional study utilized data from the Expanded National Nutrition Survey (ENNS) conducted in 2018, 2019, and 2021 by the Department of Science and Technology-Food and Nutrition Research Institute (DOST-FNRI). A total of 3,154 overweight and obese subjects were included. ANOVA and Kruskal-Wallis tests were employed to analyze the food groups consumed by these adults.

RESULTS

Majority of overweight and obese adults were found to be inadequate in vitamin A (81.7%), vitamin C (88.4%), thiamin (62.5%), riboflavin (70.7%), iron (69.8%), and calcium (88.7%). Significant differences were observed in the mean intake of various food groups across different age groups, sexes, civil statuses, wealth quintiles, educational attainments, employment statuses, and smoking and drinking statuses.

CONCLUSION

Filipino adults who are overweight and obese, and residing in urban settings face significant challenges related to micronutrient inadequacy. When their food intake was assessed based on sociodemographic and lifestyle characteristics, it was found that their diets were more calorie-dense than nutrient-dense. To address this issue, it is recommended to encourage a wider variety of nutrient-dense foods among overweight and obese adults.

Food Intake ; Eating ; Micronutrients ; Overweight ; Obesity ; Nutritional Status

BACKGROUND

Heart rate variability (HRV) is a common tool for assessing autonomic nervous system activity and monitoring training load in athletes. However, limited research has explored how HRV responds to different forms of resistance training, particularly in high-intensity intermittent sports like basketball and football.

OBJECTIVE

This study aims to compare the acute HRV responses between neuromuscular and metabolic training in collegiate athletes involved in high-intensity intermittent sports.

STUDY DESIGN

A comparative cross-sectional study with a quasi-experimental crossover design will be employed.

METHODS

Collegiate athletes will be randomly assigned to undergo both neuromuscular and metabolic training sessions with a one-week wash-out period in between. HRV data will be recorded using the Polar H10 chest strap during each session.

DATA ANALYSIS

Descriptive statistics will summarize salient participant characteristics and HRV measurements. Inferential analysis will use paired t-tests or Wilcoxon signed-rank tests based on normality, assessed via the Kolmogorov-Smirnov test. All statistical analyses will be conducted using the IBM SPSS (ver.25) with a confidence interval set. at 95% and a critical α equal to 0.05.

EXPECTED RESULTS

Neuromuscular training is expected to elicit higher low-frequency (LF) power and an increased LF/HF ratio, reflecting greater sympathetic activation, while metabolic training is expected to show lower LF power and a decreased LF/HF ratio, indicating a more balanced autonomic response. These findings will offer insights into the differential autonomic impacts of these training modalities.

Human ; Heart Rate ; Nervous System ; Sympathetic Nervous System