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.Prudent Management of Microprolactinoma in a Transgender Woman on Feminizing Hormonal Therapy
Zi Yang Lian ; Nicholas Ken Yoong Hee ; Shireene Vethakkan ; Jeyakantha Ratnasingam
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):87-
Introduction:
Gender-affirming hormone therapy (GAHT) for transgender women utilizes estrogen and an anti-androgen
like cyproterone acetate (CPA) which can both lead to
hyperprolactinemia. Although mild prolactin elevations
are common, the development of prolactinomas in transgender women on GAHT is rare.
Case:
A 23-year-old trans-woman on self-purchased estradiol
hemihydrate (17β-estradiol) 4 mg and CPA 12.5 mg daily
for GAHT presented with galactorrhea. Investigations
revealed markedly elevated prolactin at 2,369 mIU/L and
elevated estradiol at 848 pmol/L. A pituitary magnetic
resonance imaging (MRI) identified a 0.4 × 0.5 cm microprolactinoma.
She declined clinical advice to reduce her medication dose
and continued on the same treatment. In the subsequent
year, her peak prolactin was 1,383 mIU/L, and a repeat
MRI showed the microprolactinoma remained stable. She
continues to be on close clinical monitoring.
Transgender females experience approximately a fourfold
higher rate of developing prolactinomas. The patient’s
choice to persist with GAHT reflects the challenges
in managing gender dysphoria alongside medical
complications. A recent paper by BJ Nolan et al. suggests
using prolactin levels exceeding 2,000–3,000 mIU/L to
guide further investigations including a pituitary MRI to rule out a prolactinoma. In most cases, the serum prolactin
levels will return to the normal range with a reduction or
discontinuation of the GAHT. Normalization of prolactin
levels have been reported after gonadectomy and CPA
cessation in transgender females on GAHT, which suggests
that CPA usage may be associated with higher risk of
hyperprolactinemia compared to estrogen therapy.
Conclusion
This case highlights that GAHT can lead to development of
prolactinomas. Prolactin monitoring and MRI investigations
should be reserved for symptomatic patients, and for
those with significantly elevated or increasing prolactin
levels. While treatment using dopamine agonists have
been reported, this case demonstrates that conservative
management and close monitoring can be a viable approach
for structurally stable microprolactinomas.
Female
;
Prolactinoma
;
Transgender Persons
5.Angioembolization followed by nephrectomy for giant renal angiomyolipoma in a 30-year-old woman: a case report
Akhmad Miftahudin Fazri ; Her Bayu Widyasmara ; Indra Raymond
Medical Journal of Indonesia 2026;35(2):141-146
Renal angiomyolipoma (AML) is a benign renal tumor that can grow significantly and cause complications, such as hemorrhage and pain, necessitating active intervention. Managing giant AML in young women remains challenging, and evidence for multimodal approaches is limited. This case report describes the management of a giant AML by selective renal angioembolization (RAE) followed by total nephrectomy. A 30-year-old woman presented with an 18 × 20 × 22 cm AML, resulting in bleeding and kidney dysfunction. Total nephrectomy was performed after stabilization with RAE. This multimodal approach reduces surgical risk and preserves renal function. Combining RAE with nephrectomy shows promise for treating complex giant AML and warrants further research to optimize the technique and assess the long-term outcomes.
angiomyolipoma
;
nephrectomy
;
women
6.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
7.Global, regional, and national prevalence and years lived with disability due to infertility, 1990-2021: Results from the Global Burden of Disease Study 2021.
Rui LIN ; Yuan LIN ; Guangfu JIN ; Qiufen SUN ; Zhibin HU
Chinese Medical Journal 2025;138(23):3115-3123
BACKGROUND:
Infertility is a burdensome, often overlooked condition. This study aimed to investigate the global distribution and trends in the burden of infertility from 1990 to 2021.
METHODS:
We obtained data on the prevalence and years lived with disability (YLDs) related to infertility from the Global Burden of Disease 2021 study and evaluated them by calculating the estimated annual percentage change in age-standardized rates. We investigated the relationship between sociodemographic index (SDI) and the burden of infertility on the global, regional, and national levels.
RESULTS:
In 2021, there were 143,261,562 female and 55,481,380 male infertility cases worldwide, respectively. In China, female and male infertility cases accounted for 23.59% and 21.47% of the global totals, reaching 33,795,944 and 11,909,889, respectively. Compared with 2019, the global number of female and male infertility cases increased by 5,286,227 in females and 2,017,271 in males. In contrast, China saw a decline in both female and male infertility cases, with reductions of 698,735 and 154,591, respectively. From 1990 to 2021, the age-standardized prevalence rate (ASPR) and age-standardized YLDs rate (ASYR) for female infertility both increased by 0.59% annually, whereas these two corresponding indicators for male infertility increased by 0.50% annually worldwide. The burden of female infertility was consistently higher than that of male infertility and demonstrated a faster rate of increase. East Asia had the highest ASPR and ASYR for female infertility, whereas Eastern Europe had the highest metrics for male infertility. A horizontal S-shaped association was observed between the SDI and ASPR and ASYR of infertility, with a rapid decline in the infertility burden when the SDI exceeded 0.7.
CONCLUSIONS
The global burden of infertility has increased over the years, with a higher burden on women and underdeveloped regions. These findings emphasize the need to prioritize healthcare for patients with infertility to address the rising burden.
Humans
;
Female
;
Male
;
Global Burden of Disease
;
Prevalence
;
Infertility/epidemiology*
;
Adult
;
Infertility, Male/epidemiology*
;
Persons with Disabilities/statistics & numerical data*
;
Middle Aged
;
Infertility, Female/epidemiology*
;
China/epidemiology*
;
Disability-Adjusted Life Years
8.Lumbar temperature change after acupuncture or moxibustion at Weizhong (BL40) or Chize (LU5) in healthy adults: A randomized controlled trial.
Si-Yi ZHENG ; Xiao-Ying WANG ; Li-Nan LIN ; Shan LIU ; Xiao-Xiao HUANG ; Yi-Yue LIU ; Xiao-Shuai YU ; Wei PAN ; Jian-Qiao FANG ; Yi LIANG
Journal of Integrative Medicine 2025;23(2):145-151
BACKGROUND:
There is a gap in understanding the effects of different acupoints and treatment methods (acupuncture and moxibustion) on microcirculatory changes in the lumbar region.
OBJECTIVE:
This study aimed to assess the thermal effects of acupuncture at Weizhong (BL40), with acupuncture at Chize (LU5) and moxibustion at both acupoints as control interventions.
DESIGN, SETTING, PARTICIPANTS AND INTERVENTIONS:
In this randomized controlled trial, 140 healthy participants were equally divided into four groups: acupuncture at BL40 (Acu-BL40), acupuncture at LU5 (Acu-LU5), moxibustion at BL40 (Mox-BL40) and moxibustion at LU5 (Mox-LU5). Participants underwent a 30-minute session of their assigned treatment. Infrared thermal imaging was used to collect temperature data on the areas of interest for analysis.
MAIN OUTCOME MEASURES:
The primary measure was the change in average temperature of the observed area after the intervention. The secondary measures included periodic temperature changes every 5 min and the temperature changes of the Governor Vessel and Bladder Meridian in the observed area after the intervention.
RESULTS:
Significant interactions were observed between treatments and acupoints affecting temperature (P < 0.001). The Acu-BL40 group showed a notably higher increase in mean temperature after 30 min compared to the Acu-LU5 and Mox-BL40 groups, with increases of 0.29 (95% confidence interval [CI] = 0.17 to 0.41) and 0.24 (95% CI = 0.08 to 0.41) °C, respectively.
CONCLUSION:
Acupuncture at BL40 acupoint can significantly increase the mean temperature in the observed area, highlighting the specific thermal effect of acupuncture compared to moxibustion in the lumbar area. This suggests a potential therapeutic benefit of acupuncture at BL40 for managing lumbar conditions.
TRIAL REGISTRATION
ClinicalTrials.gov (NCT05665426). Please cite this article as: Zheng SY, Wang XY, Lin LN, Liu S, Huang XX, Liu YY, Yu XS, Pan W, Fang JQ, Liang Y. Lumbar temperature change after acupuncture or moxibustion at Weizhong (BL40) or Chize (LU5) in healthy adults: A randomized controlled trial. J Integr Med. 2025; 23(2): 145-151.
Adult
;
Female
;
Humans
;
Male
;
Young Adult
;
Acupuncture Points
;
Acupuncture Therapy
;
Body Temperature
;
Healthy Volunteers
;
Lumbosacral Region/physiology*
;
Moxibustion
;
Adolescent
9.Effectiveness of an educational intervention in increasing knowledge and willingness to vaccinate on human papillomavirus among women in barangay West Fairview, Quezon City
Lesly Mae D. Mara ; Camilla Thea S. Paraino ; Jebb Patrick Molina Delos Santos
Philippine Journal of Health Research and Development 2025;29(4):8-16
BACKGROUND
Cervical cancer, caused by human papillomavirus (HPV), is the second most common cancer among Filipino women. Despite vaccine availability, the Philippines has a low 60% immunization rate, driven by hesitancy and poor public awareness.
AIMS AND OBJECTIVESThis study assessed how 100 women (ages 18–45) in Quezon City understood HPV and their willingness to vaccinate.
MATERIALS AND METHODSResearchers used a pre–post interventional study and purposive sampling and Cochran’s formula for size calculation. Participants completed a pretest, a Department of Health/World Health Organization/Centers for Disease Control and Prevention-based digital educational intervention, a posttest, and a satisfaction survey. Data were gathered confidentially under informed consent.
RESULTSResults showed significant improvement in knowledge and willingness to vaccinate (P < 0.001), with almost all respondents expressing willingness. The intervention received high satisfaction ratings, proving the digital tool was effective and well-received.
CONCLUSION AND RECOMMENDATIONIn conclusion, this study demonstrated that a structured digital educational tool effectively bridges knowledge gaps and addresses vaccine hesitancy in a community setting. Findings emphasize the importance of targeted, community-level initiatives to reduce cervical cancer risk. Future research should include teens and males and use a larger randomized sample for definitive evidence.
Human ; Female ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Uterine Cervical Neoplasms ; Human Papillomavirus Viruses ; Vaccination ; Women
10.Public health nurses' provision of primary healthcare services in the context of universal health care
Mary Cris T. Rombaoa ; Charlie C. Falguera ; Danica V. Delima ; Mandy Roie A. Atendido
Philippine Journal of Health Research and Development 2025;29(4):26-33
BACKGROUND
Public health nurses (PHNs) are a significant cadre of the primary healthcare workforce working toward achieving universal health care (UHC). Exploring their work activities is integral to understanding how UHC is implemented better.
OBJECTIVESTo describe and explore the work activities, roles, and functions of the PHNs in rendering primary care services in the context of UHC.
METHODSKey informant interviews were conducted with 12 PHNs in Tarlac Province who were working with permanent status in their respective rural health units (RHUs) for at least 1 year. They were selected through selection criteria. Data were recorded, transcribed, and subjected to thematic analysis.
RESULTSData analysis led to the emergence of 4 themes and 11 subthemes. The four themes were: (a) evolving scope and nature of work, (b) work challenges and barriers toward UHC implementation, (c) UHC outcomes, impact, and insights, and (d) communication and health promotion.
CONCLUSIONSThe study underscores the importance of exploring the PHNs’ roles and functions, as it offers a window on how they fulfill their duties toward achieving the goals of UHC. From the viewpoint of the interviewed PHNs, several elements and issues need to be addressed. Consequently, some positive impact on their work activities and functions emerged. Their nature of work brought them professional development and fulfillment as they render primary care and value-driven services despite the challenges and struggles they encountered in public health.
Human ; Primary Health Care ; Nurses, Public Health ; Universal Health Care


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