1.Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome.
Hui HU ; Shengnan WU ; Kai CHEN ; Jingbo SHAO ; Ting ZHANG ; Yongmei XIAO
Chinese Journal of Medical Genetics 2026;43(2):123-128
OBJECTIVE:
To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency.
METHODS:
This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01).
RESULTS:
Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%.
CONCLUSION
For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans
;
Male
;
X-Linked Inhibitor of Apoptosis Protein/deficiency*
;
Child
;
Genetic Diseases, X-Linked/therapy*
;
Phenotype
;
Siblings
;
Retrospective Studies
;
Hematopoietic Stem Cell Transplantation
2.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
3.Effectiveness of biscuit formulations with different dates substitutes in treating anemia among female workers in Makassar, Indonesia.
Hasbi IBRAHIM ; Yessy KURNIATI ; Titi HAERANA ; Irvian ANWAR IBRAHIM ; Lilis WIDIASTUTY ; Sukfitrianty SYAHRIR
Acta Medica Philippina 2026;60(4):89-96
BACKGROUND AND OBJECTIVE
Nutritional anemia has become a national public health problem, particularly among female workers, who are a high-risk group. Dates can be formulated into functional food to treat anemia in this group. This study aimed to examine the effectiveness of date biscuits formulated with 10% (A1) and 20% (A2) substitutes in treating anemia among female workers in Makassar, Indonesia.
METHODSExperimental research design using a Randomized Controlled Trial (RCT) with a pre-test post-test randomized group was used. The population of this study were female workers in Makassar City, with a total sample of 61 participants. The study randomly divided the sample into three groups: the intervention group that received formula A1 date biscuits (10%), the intervention group that received formula A2 date biscuits (20%), and the control group that did not receive any intervention. The researchers administered 20 grams of biscuits for 60 days. Hemoglobin levels were measured twice, at baseline and after the intervention. The study further performed a bivariate test by comparing the hemoglobin examination results before and after the intervention using the paired t-test, and analyzed differences between groups using the ANOVA test. The significance value was set at pRESULTS
The results showed that A1 date biscuits reduced the case of anemia by 23.8%, from 38.1% to 14.3%. Meanwhile, provision of A2 date biscuits reduced the case of anemia by 13.7%, from 36.4% to 22.7%.
CONCLUSIONThe provision of A1 date biscuits is more effective than A2 for women with anemia. Date biscuits should be specifically provided to workers or women with anemia as they are less effective for those with normal hemoglobin levels. To further increase hemoglobin levels, female workers should also be given additional nutrient- rich foods
Human ; Chronology As Topic ; Dates ; Hemoglobins ; Women ; Occupational Groups ; Worker
4.Important but neglected: A qualitative study on the lived experiences of barangay health workers in the Philippines
Kenneth Y. Hartigan-go ; Melissa Louise Prieto ; Sheena A. Valenzuela
Acta Medica Philippina 2025;59(9):19-31
BACKGROUND AND OBJECTIVE
Within a decentralized health system, barangay health workers (BHWs) are often the first point of contact for Filipinos seeking care. Despite their importance, BHWs are neglected in the health value chain. The study seeks to examine the lived experiences of BHWs, particularly their journey in navigating their roles within the community and the health system that encompasses their day-to-day realities, challenges, motivations, and the meanings they derive from their work.
METHODSThe study draws on seven focus group discussions (FGDs) with BHWs (n=50), residents (n=7), and local government officials and health workers (n=7) of San Miguel, Bulacan. The qualitative data collected were analyzed using thematic analysis.
RESULTSFindings show that BHWs perform many roles, which are not limited to health and are dependent on orders from their superiors. Guidelines are vague in appointing BHWs, with personal connections valued more than technical qualifications. Their accreditation is hardly conferred any significance. There is also a lack of formal and structured training. The informality of these processes leads to an absence of quality assurance on rendered health services. The non-provision of incentives and benefits stipulated in RA 7883 also places their health and lives at risk. Furthermore, BHW’s commitment to serve is used to excuse the inadequacy of their compensation and excessive workload.
CONCLUSIONBHWs take on diverse roles, from community organizers to healthcare providers, and are confronted with significant challenges encompassing politicization, inadequate training, and insufficient compensation. The study concludes with policy recommendations to improve the conditions of the neglected BHWs, with particular attention to coordinating, capacitating, compensating, career pathing, and connecting them to the health system.
Human ; Community Health Workers ; Universal Health Care ; Philippines
5.Assessing the impact of the COVID-19 pandemic on social service accessibility and experiences for persons with disabilities in the Philippines during pandemic peak
Ma. Josephine Therese Emily G. Teves
Philippine Journal of Health Research and Development 2025;29(2):1-8
OBJECTIVES
This study investigates the impact of the COVID-19 pandemic on social service accessibility for persons with disabilities in the Philippines, with a focus on disability related opportunity costs and out-of-pocket expenses.
METHODOLOGYA mixed-methods approach was employed, combining both qualitative and quantitative data collection techniques. Focus group discussions (FGDs) and interviews were conducted to gather qualitative insights, while quantitative analysis, utilizing one-sample t-tests, was used to assess the impact of the pandemic on key areas such as income, access to essential goods, employment, healthcare, mental health, and social support.
RESULTSUsing a mixed-methods approach, data were collected from 141 participants. Qualitative insights highlighted that 89% of participants reported negative effects on daily living conditions due to rising costs and limited access to necessities. Parents of children with disabilities indicated that early childhood care and development services were adversely affected by school closures, and transitioning to online learning posed significant barriers, with 62% lacking access to training and resources. While many participants had access to healthcare, lockdowns exacerbated disability-related opportunity costs, complicating access to routine care. Quantitative data findings were analyzed through one-sample t-tests to assess the impact of COVID-19 on various aspects of daily life, including income, access to essential goods, employment status, healthcare access, mental health, and social support. Findings revealed significant challenges, with an average income decrease rating of 7.39, reflecting substantial financial loss. Ratings for access to essential goods and healthcare services also averaged 7.39, while employment status was rated at 7.82, indicating instability. Mental health impacts averaged 7.13, and social support was rated at 7.42, underscoring inadequacies during this crisis.
CONCLUSIONOverall, the study emphasizes the urgent need for targeted interventions and inclusive responses in emergency planning to mitigate the pandemic's disproportionate impact on this marginalized group in the Philippines.
Human ; Persons With Disabilities ; Out-of-pocket Costs ; Health Expenditures ; Philippines ; Social Service ; Social Work ; Covid-19
6.Psychosocial status and job satisfaction among community health workers in Batangas, Philippines
Janine San ignacio ; Therese Alaine Pasahol ; Mellenie Joenet Paloso ; Clarisse Ann Pedir ; Kevin Jace Miranda ; Rogie Royce Carandang
Philippine Journal of Health Research and Development 2025;29(2):13-18
BACKGROUND
Community Health Workers (CHWs) play a vital role in addressing community healthcare needs, yet little is known about their psychosocial status and job satisfaction. This study aimed to describe the psychosocial status and job satisfaction of CHWs, and examine the factors associated with their job satisfaction.
METHODOLOGYA cross-sectional study was conducted among 440 CHWs aged 25-60 years working in urban and rural areas of Batangas, Philippines. Linear regression models were used to examine the association between psychosocial factors and job satisfaction. Other factors associated with job satisfaction were also examined.
RESULTSDespite 90.0% of CHWs reporting high perceived stress and 52.1% experiencing high depressive symptoms, they demonstrated relatively high job satisfaction (mean [standard deviation]= 80.05 [17.56]; range= 0-100) and high perceived social support (mean [standard deviation]= 25.09 [2.93]; range= 10-30). Among psychosocial factors, only perceived social support was associated with job satisfaction (unstandardized beta [B] 0.93; 95% confidence interval [CI] 0.44, 1.41). Other factors associated with job satisfaction include fixed working hours (B 4.71; 95% CI 0.49, 8.94), work amenities (B 7.37; 95% Cl 0.03, 14.72), ≥21 years of work experience (B 5.64; 95% CI 0.35, 10.93), and working in rural areas (B 5.88; 95% CI 2.77, 8.99).
CONCLUSIONPsychological factors such as perceived stress and depressive symptoms were not found to be associated with job satisfaction among CHWs. However, factors such as greater perceived social support, fixed working hours, work amenities, longer work experience, and working in rural areas were identified as contributors to higher levels of job satisfaction among CHWs.
Human ; Community Health Workers ; Job Satisfaction ; Philippines ; Psychological Factors ; Psychology ; Working Conditions
7.Factors associated with anxiety symptoms among Filipino farmers in Central Luzon: An analytical cross-sectional study.
Har-li T. YOUNG ; Dina Marie YALONG ; Vinace S. GUINGGUING ; Van Irish S. VENTILACION ; Merimae S. VILLAMAYOR ; Peter Verona G. VILLANGCA ; William M. MANENGYAO JR. ; Ma. Beatrice M. VEGA ; Alina Marea C. ZAÑO ; Maria Teresa SANCHEZ-TOLOSA
Acta Medica Philippina 2025;59(16):68-78
BACKGROUND AND OBJECTIVE
Filipino farmers face unique occupational challenges that increase the risk of mental health issues, particularly anxiety. This study aims to determine the different personal, environmental, socioeconomic, occupational, and psychosocial factors associated with anxiety symptoms among Filipino farmers in Central Luzon.
METHODSChain referral sampling method was used to recruit participants for the study, who underwent screening based on the eligibility criteria. Eligible participants were then asked about anxiety symptoms using the Generalized Anxiety Disorder-7 (GAD-7), while the validated, researcher-constructed Data Collection Tool for Factors Associated with Anxiety Symptoms (DCFAAS) was used to determine the farmers’ exposure to a variety of factors. Microsoft Excel was utilized in computing for frequency and percent distribution of participants, in each factor. Binary logistic regression was used to compute crude and adjusted odds ratio of each factor thru IBM SPSS Statistics®.
RESULTSAmong the 113 eligible farmers enrolled in the study, only 19 (16.8%) experienced anxiety symptoms, with excessive worrying, which was seen among 45 participants (39.8%). The mental health of Filipino farmers was significantly affected by the presence of physical illness (OR = 10.70 [95% CI 1.367, 83.773]) and having relatives affecting work completion (OR = 6.45 [95% CI 1.346, 30.896]).
CONCLUSIONDespite the low prevalence of anxiety symptoms in this study, the findings suggest government policies to improve mental health service access to farmers, to integrate psychosocial support into agricultural programs, and to address family-related work pressures. By addressing these factors, it can improve farmer productivity and promote overall well-being, putting emphasis on the mental health of the Filipino farmers.
Human ; Farmers ; Agriculture ; Generalized Anxiety Disorder ; Gad-7 ; Patient Health Questionnaire
8.Factors associated with anxiety symptoms among Filipino farmers in Central Luzon: An analytical cross-sectional study
Har-li T. Young ; Dina Marie Yalong ; Vinace S. Guinguing ; Van Irish S. Ventilacion ; Merimae S. Villamayor ; Peter Verona G. Villangca ; William M. Manengyao jr. ; Ma. Beatrice M. Vega ; Alina Marea C. Zañ ; o ; Maria Teresa Sanchez-tolosa
Acta Medica Philippina 2025;59(Early Access 2025):1-11
BACKGROUND AND OBJECTIVE
Filipino farmers face unique occupational challenges that increase the risk of mental health issues, particularly anxiety. This study aims to determine the different personal, environmental, socioeconomic, occupational, and psychosocial factors associated with anxiety symptoms among Filipino farmers in Central Luzon.
METHODSChain referral sampling method was used to recruit participants for the study, who underwent screening based on the eligibility criteria. Eligible participants were then asked about anxiety symptoms using the Generalized Anxiety Disorder-7 (GAD-7), while the validated, researcher-constructed Data Collection Tool for Factors Associated with Anxiety Symptoms (DCFAAS) was used to determine the farmers’ exposure to a variety of factors. Microsoft Excel was utilized in computing for frequency and percent distribution of participants, in each factor. Binary logistic regression was used to compute crude and adjusted odds ratio of each factor thru IBM SPSS Statistics®.
RESULTSAmong the 113 eligible farmers enrolled in the study, only 19 (16.8%) experienced anxiety symptoms, with excessive worrying, which was seen among 45 participants (39.8%). The mental health of Filipino farmers was significantly affected by the presence of physical illness (OR = 10.70 [95% CI 1.367, 83.773]) and having relatives affecting work completion (OR = 6.45 [95% CI 1.346, 30.896]).
CONCLUSIONDespite the low prevalence of anxiety symptoms in this study, the findings suggest government policies to improve mental health service access to farmers, to integrate psychosocial support into agricultural programs, and to address family-related work pressures. By addressing these factors, it can improve farmer productivity and promote overall well-being, putting emphasis on the mental health of the Filipino farmers.
Human ; Farmers ; Agriculture ; Generalized Anxiety Disorder ; Gad-7 ; Patient Health Questionnaire
9.Biomechanical advantages of personalized Y-shaped plates in treatment of distal humeral intra-articular fractures.
Hao YU ; Jiachen PENG ; Jibin YANG ; Lidan YANG ; Zhi XU ; Chen YANG
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(5):574-583
OBJECTIVE:
To compare the biomechanical properties of personalized Y-shaped plates with horizontal plates, vertical plates, and traditional Y-shaped plates in the treatment of distal humeral intra-articular fractures through finite element analysis, and to evaluate their potential for clinical application.
METHODS:
The study selected a 38-year-old male volunteer and obtained a three-dimensional model of the humerus by scanning his upper limbs using a 64-slice spiral CT. Four types of fracture-internal fixation models were constructed using Mimics 19.0, Geomagic Wrap 2017, Creo 6.0, and other software: horizontal plates, vertical plates, traditional Y-shaped plate, and personalized Y-shaped plate. The models were then meshed using Hypermesh 14.0 software, and material properties and boundary conditions were defined in Abaqus 6.14 software. AnyBody 7.3 software was used to simulate elbow flexion and extension movements, calculate muscle strength, joint forces, and load torques, and compare the peak stress and maximum displacement of the four fixation methods at different motion angles (10°, 30°, 50°, 70°, 90°, 110°, 130°, 150°) during elbow flexion and extension.
RESULTS:
Under dynamic loading during elbow flexion and extension, the personalized Y-shaped plate exhibits significant biomechanical advantages. During elbow flexion, the peak internal fixation stress of the personalized Y-shaped plate was (28.8±0.9) MPa, which was significantly lower than that of the horizontal plates, vertical plates, and traditional Y-shaped plate ( P<0.05). During elbow extension, the peak internal fixation stress of the personalized Y-shaped plate was (18.1±1.6) MPa, which was lower than those of the other three models, with significant differences when compared with horizontal plates and vertical plates ( P<0.05). Regarding the peak humeral stress, the personalized Y-shaped plate model showed mean values of (10.9±0.8) and (13.1±1.4) MPa during elbow flexion and extension, respectively, which were significantly lower than those of the other three models ( P<0.05). Displacement analysis showed that the maximum displacement of the humerus with the personalized Y-shaped plate during elbow flexion was (2.03±0.08) mm, slightly higher than that of the horizontal plates, but significantly lower than that of the vertical plates, showing significant differences ( P<0.05). During elbow extension, the maximum displacement of the humerus with the personalized Y-shaped plate was (1.93±0.13) mm, which was lower than that of the other three models, with significant differences when compared with vertical plates and traditional Y-shaped plates ( P<0.05). Stress contour analysis showed that the stress of the personalized Y-shaped plate was primarily concentrated at the bifurcation of the Y-shaped structure. Displacement contour analysis showed that the personalized Y-shaped plate effectively controlled the displacement of the distal humerus during both flexion and extension, demonstrating excellent stability.
CONCLUSION
The personalized Y-shaped plate demonstrates excellent biomechanical performance in the treatment of distal humeral intra-articular fractures, with lower stress and displacement, providing more stable fixation effects.
Humans
;
Male
;
Adult
;
Healthy Volunteers
;
Finite Element Analysis
;
Tomography, Spiral Computed
;
Models, Anatomic
;
Biomechanical Phenomena
;
Humeral Fractures, Distal/surgery*
;
Fracture Fixation, Internal/instrumentation*
;
Bone Plates
;
Computer Simulation
;
Precision Medicine/methods*
;
Elbow Joint/surgery*
;
Elbow/surgery*
;
Humerus/surgery*
;
Torque
;
Stress, Mechanical
;
Intra-Articular Fractures/surgery*
;
Prosthesis Design/methods*
;
Imaging, Three-Dimensional
;
Range of Motion, Articular
10.Analysis of disease burden and changing trends of traumatic brain injury in China, 1990-2023.
Yajin HAN ; Ke SUN ; Weimin PAN ; Xiaofeng LUO
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(11):1388-1394
OBJECTIVE:
To explore the current status and changing trends of the disease burden of traumatic brain injury (TBI) in China from 1990 to 2023, and to quantitatively assess the impact of different influencing factors on this disease burden, thereby providing references for the prevention of TBI.
METHODS:
Based on the 2023 Global Burden of Disease Study (GBD), indicators including incidence and years lived with disability (YLDs) were used to analyze the status and changing trends of TBI disease burden in China from 1990 to 2023. Additionally, the decomposition method established by Gupta was adopted to quantify the effects of population growth, population aging, age-specific incidence rate, and disease severity on YLDs.
RESULTS:
From 1990 to 2023, the age-standardized incidence rate and YLDs rate of TBI in China showed an overall upward trend, with a significant downward trend between 2015 and 2020, followed by a resumption of upward trend after 2020. The disease burden of TBI in males was higher than that in females, with a larger increase amplitude. The elderly population had higher TBI incidence rate and YLDs rate, also with a larger upward amplitude. Falls were the main cause of TBI in China, and the changing trend of the disease burden caused by falls was consistent with the overall trend of TBI disease burden; meanwhile, the elderly population bore a relatively high disease burden from falls. Taking 1990 as the baseline, the growth rates of YLDs in males and females in 2023 were 101.54% and 101.40%, respectively. For males, the proportions of YLDs growth attributed to population growth, population aging, age-specific incidence rate, and disease severity were 26.91%, 49.62%, 37.74%, and -12.73%, respectively; for females, the corresponding proportions were 28.85%, 57.69%, 27.65%, and -12.79%.
CONCLUSION
From 1990 to 2023, population aging had a significant impact on the disease burden of TBI in China. Strengthening the prevention and control of falls and paying close attention to males and the elderly population should be the key focuses of TBI prevention and control work in China in the future.
Humans
;
Brain Injuries, Traumatic/epidemiology*
;
China/epidemiology*
;
Male
;
Female
;
Incidence
;
Middle Aged
;
Aged
;
Adult
;
Cost of Illness
;
Adolescent
;
Young Adult
;
Persons with Disabilities/statistics & numerical data*
;
Child
;
Global Burden of Disease
;
Disability-Adjusted Life Years
;
Child, Preschool
;
Infant
;
Aged, 80 and over


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