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, pCONCLUSION

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

OBJECTIVES: To evaluate the correlation of mean arterial oxygen tension (PaO₂) during the first 24 h following intensive care unit (ICU) admission with mortality in critically ill patients with acute kidney injury (AKI) and determine the optimal PaO₂ threshold for devising oxygen therapy strategies for these patients. METHODS: We collected the clinical data of ICU patients with AKI from the MIMIC-IV database. Based on the optimal first 24-h PaO₂ threshold determined by receiver operating characteristic (ROC) curve analysis and the Youden index maximization principle, we classified the patients into hyperoxia group (with PaO₂ ≥137.029 mmHg) and hypoxemia group (PaO₂<137.029 mm Hg). Multivariable logistic regression and propensity score matching were used to evaluate the correlation of first 24-h PaO₂ levels with in-hospital mortality of the patients. RESULTS: Among the 18 335 patients, 46.7% were in the hyperoxia group, who had an overall mortality rate of 16.9%. The optimal PaO₂ threshold (137.029 mm Hg) had a sensitivity of 78.3%, a specificity of 63.7%, and an AUC of 0.76 (95% CI: 0.74=0.78). Hyperoxia within the first 24 h after ICU admission was associated with a significantly lower in-hospital mortality (OR=0.78) and 90-day mortality (OR=0.77), particularly in stage 1 AKI patients. A non-linear relationship was identified between PaO₂ and mortality of the patients (P<0.001). Kaplan-Meier survival curves indicated a significantly increased 90-day survival rate in the patients in hyperoxia group (P<0.001), who also had shorter durations of mechanical ventilation, less vasopressor use, and shorter lengths of hospital/ICU stay. CONCLUSIONS Maintenance of a PaO₂ level ≥137.029 mmHg within 24 h after ICU admission may improve clinical outcomes of critically ill AKI patients, which underscores the importance of targeted oxygen delivery in ICU care.
Humans ; Acute Kidney Injury/blood* ; Male ; Female ; Middle Aged ; Intensive Care Units ; Aged ; Oxygen/blood* ; Hospital Mortality ; Partial Pressure ; Adult ; Databases, Factual

The central amygdala (CeA) is a crucial modulator of emotional, behavioral, and autonomic functions, including cardiovascular responses. Despite its importance, the specific circuit by which the CeA modulates blood pressure remains insufficiently explored. Our investigations demonstrate that photostimulation of GABAergic neurons in the centromedial amygdala (CeM^GABA), as opposed to those in the centrolateral amygdala (CeL), produces a depressor response in both anesthetized and freely-moving mice. In addition, activation of CeM^GABA axonal terminals projecting to the nucleus tractus solitarius (NTS) significantly reduces blood pressure. These CeM^GABA neurons form synaptic connections with NTS neurons, allowing for the modulation of cardiovascular responses by influencing the caudal or rostral ventrolateral medulla. Furthermore, CeM^GABA neurons targeting the NTS receive dense inputs from the CeL. Consequently, stimulation of CeM^GABA neurons elicits hypotension through the CeM-NTS circuit, offering deeper insights into the cardiovascular responses associated with emotions and behaviors.
Animals ; GABAergic Neurons/physiology* ; Male ; Central Amygdaloid Nucleus/physiopathology* ; Hypotension/physiopathology* ; Mice ; Blood Pressure/physiology* ; Mice, Inbred C57BL ; Solitary Nucleus/physiology* ; Photic Stimulation ; Neural Pathways/physiology*

Social working memory (SWM)-the ability to maintain and manipulate social information in the brain-plays a crucial role in social interactions. However, research on SWM is still in its infancy and is often treated as a unitary construct. In the present study, we propose that SWM can be conceptualized as having two relatively independent components: "externally oriented SWM" (e-SWM) and "internally oriented SWM" (i-SWM). To test this external-internal hypothesis, participants were tasked with memorizing and ranking either facial expressions (e-SWM) or personality traits (i-SWM) associated with images of faces. We then examined the neural correlates of these two SWM components and their functional roles in empathy. The results showed distinct activations as the e-SWM task activated the postcentral and precentral gyri while the i-SWM task activated the precuneus/posterior cingulate cortex and superior frontal gyrus. Distinct multivariate activation patterns were also found within the dorsal medial prefrontal cortex in the two tasks. Moreover, partial least squares analyses combining brain activation and individual differences in empathy showed that e-SWM and i-SWM brain activities were mainly correlated with affective empathy and cognitive empathy, respectively. These findings implicate distinct brain processes as well as functional roles of the two types of SWM, providing support for the internal-external hypothesis of SWM.
Humans ; Memory, Short-Term/physiology* ; Male ; Female ; Empathy/physiology* ; Young Adult ; Magnetic Resonance Imaging ; Adult ; Brain/diagnostic imaging* ; Brain Mapping ; Facial Expression ; Social Behavior ; Facial Recognition/physiology* ; Social Perception ; Personality/physiology*