1.Advancing the role of higher education institutions in attaining the health-related sustainable development goals: Proceedings of the 53rd Asia Pacific Academic Consortium for Public Health, 21-23 September 2022, Philippines
Maria Margarita M. Lota ; Paul Michael R. Hernandez ; Vivien Fe F. Fadrilan-camacho ; Fresthel Monica M. Climacosa ; Francis Andrew B. Cube ; Kim Leonard G. Dela luna ; Crystal Amiel M. Estrada ; Emerito Jose A. Faron ; Fernando B. Garcia jr. ; Myra S. Mistica ; Frederick S. Nieto ; Sharon Yvette Angelina M. Villanueva ; Vicente Y. Belizario jr.
Acta Medica Philippina 2025;59(4):10-13
Higher Education Institutions (HEIs) are acknowledged as key drivers in realizing health-related Sustainable Development Goals (SDGs). The University of the Philippines Manila, College of Public Health (UP CPH) together with the Asia-Pacific Academic Consortium for Public Health (APACPH), hosted the 53rd APACPH International Conference last 21-23 September 2022. The conference discussed current issues relating to the attainment of SDGs and promoted collaboration of leading academic institutions and other stakeholders in addressing various public health challenges. The conference revolved around the challenges and opportunities in attaining health-related SDGs, and the good practices and roles of HEIs in addressing health disparities. The lack of certificati on framework of public health tertiary programs, pedagogy and infrastructure, and ambiguous roles and network of public health professionals were discussed. The conference served as a platform for discussing potential resolutions and ways forward in addressing these challenges. Opportunities for improvement such as updating of policies and curricula, strengthening of internship and community engagement programs, establishment of capacity-building partnerships and programs, and developing multidisciplinary-competent faculty and students were identified. This paper providesthe highlights of the conference focusing on the good practices and roles of HEIs in addressing health disparities, the impact of COVID-19 pandemic, and other issues and challenges in attaining SDGs.
Human ; Sustainable Development ; Sustainable Development Goals ; Public Health
2.Study on the influence of the sY1192 gene locus in the AZFb/c region on sperm quality and pregnancy outcome.
Gang-Xin CHEN ; Yan SUN ; Rui YANG ; Zhi-Qing HUANG ; Hai-Yan LI ; Bei-Hong ZHENG
Asian Journal of Andrology 2025;27(2):231-238
Y chromosome microdeletions are an important cause of male infertility. At present, research on the Y chromosome is mainly focused on analyzing the loss of large segments of the azoospermia factor a/b/c (AZFa/b/c) gene, and few studies have reported the impact of unit point deletion in the AZF band on fertility. This study analyzed the effect of sperm quality after sY1192 loss in 116 patients. The sY1192-independent deletion accounted for 41.4% (48/116). Eight patterns were found in the deletions associated with sY1192. The rate of sperm detection was similar in the semen of patients with the independent sY1192 deletion and the combined sY1192 deletions (52.1% vs 50.0%). The patients with only sY1192 gene loss had a higher probability of sperm detection than the patients whose sY1192 gene locus existed, but other gene loci were lost (52.1% vs 32.0%). The hormone levels were similar in patients with sY1192 deletion alone and in those with sY1192 deletion and other types of microdeletions in the presence of the sY1192 locus. After multiple intracytoplasmic sperm injection (ICSI) attempts, the pregnancy rate of spouses of men with sY1192-independent deletions was similar to that of other types of microdeletions, but the fertilization and cleavage rates were higher. We observed that eight deletion patterns were observed for sY1192 microdeletions of AZFb/c, dominated by the independent deletion of sY1192. After ICSI, the fertilization rate and cleavage rate of the sY1192-independent microdeletion were higher than those of other Y chromosome microdeletion types, but there was no significant difference in pregnancy outcomes.
Humans
;
Female
;
Pregnancy
;
Male
;
Chromosomes, Human, Y/genetics*
;
Adult
;
Chromosome Deletion
;
Pregnancy Outcome/genetics*
;
Infertility, Male/genetics*
;
Spermatozoa/physiology*
;
Semen Analysis
;
Sex Chromosome Disorders of Sex Development/genetics*
;
Sperm Injections, Intracytoplasmic
;
Azoospermia/genetics*
;
Sex Chromosome Aberrations
3.Mosaic Turner syndrome presenting with ambiguous genitalia and mixed ovarian germ cell tumor in a Filipino adult
Khristine Rosemarie Bunda-Sabido ; Marie Janice Alcantara-Boquiren
Philippine Journal of Reproductive Endocrinology and Infertility 2025;22(2):68-72
This report details the case of a 24-year-old Filipino individual born with ambiguous genitalia, assigned female at birth, and raised as such. Around the age of 13, the patient began to develop secondary male characteristics. Medical assessment was postponed until the onset of abdominal pain led the patient to seek consultation. Cytogenetic testing revealed a sex chromosome disorder of sexual development with a mosaic karyotype of 45,X/45,X,del(X)(q13). Imaging, surgical exploration, and histopathologic evaluation confirmed that a pelvoabdominal mass originated from the left ovary and was a mixed germ cell tumor containing yolk sac tumor and mature teratoma components. At presentation, the patient also reported symptoms consistent with gender dysphoria. This case highlights the wide phenotypic variability of mosaic Turner syndrome and reinforces the importance of accurate neonatal sex assignment in individuals with DSD. It further emphasizes the need for healthcare providers to remain vigilant for such presentations to enable prompt, tailored, and comprehensive management.
Human ; Female ; Young Adult: 19-24 Yrs Old ; Disorders Of Sex Development ; Ambiguous Genitalia
4.Neurodevelopmental comorbidities and seizure characteristics of children with focal epilepsy below eight years old in Philippine Children’s Medical Center: A cross-sectional analytical study
Mae Caridad M. Ynclino ; Carolyn Grace T Madariaga ; Katherine Grace R. Tan ; Bernice Louise Ho-Jao ; Mel Michel G. Villaluz
The PCMC Journal 2025;21(2):130-150
OBJECTIVES: This study aims to describe the clinical characteristics, treatment received and outcome of patients diagnosed with HLH at the Philippine Children’s Medical Center from 2004 to 2017.
MATERIALS AND METHODS: This cross-sectional analytical study was conducted from June 10, 2023 to June 1, 2024 at the Philippine Children's Medical Center. Detailed information was obtained for each case according to protocol. A complete history was taken from the accompanying caretakers. Children aged 0 to 7 years and 11 months, recently diagnosed with focal epilepsy, were evaluated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5-TR) criteria. The level of early child development was determined based on the total Battelle Developmental Inventory-2 developmental quotient score.
RESULTS: The study examined 246 children with focal epilepsy. Significant findings included those children with NDD had a higher median age (4.67 years) compared to those without NDD (3.37 years) (p < .001). A higher proportion of non-NDD children were under one year old. Children without NDD had mothers with higher educational attainment (p = .015) and came from families with higher incomes (p = .003). Neonatal complications such as hypoxic-ischemic encephalopathy (HIE) and sepsis were more common in children with NDD (p = .005 and p = .006). Phenobarbital use was more frequent in children with NDD (p = .001), who also had more abnormal EEG and neuroimaging findings (p < .001). Neurodevelopmental evaluations were conducted later for children with NDD (p < .001). A significant number (75.20%) of children exhibited neurodevelopmental problems, with global developmental delay being most prevalent. Crude analysis showed associations between age, number of antiseizure medications, and delays in evaluation with increased odds of NDD.
CONCLUSIONS: The study offers insights into children with focal epilepsy at a tertiary hospital in the Philippines, emphasizing the impact of low socioeconomic status, age, birth complications and multiple anti-seizure medications. These findings are vital for clinicians to modify care plans through a multidisciplinary approach to enhance outcomes and improve quality of life in this high-risk population.
Human ; Male ; Female ; Infant Newborn: First 28 Days After Birth ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Neurodevelopmental Disorders ; Sepsis ; Hypoxia-ischemia, Brain ; Epilepsies, Partial ; Educational Status ; Diagnostic And Statistical Manual Of Mental Disorders ; Child Development
5.Clinical characteristics and genetic analysis of four patients with Disorders of sex development.
Xiuyan WANG ; Fanrong MENG ; Yunfang SHI ; Duan JU ; Xinghong ZHOU ; Haiwei DONG ; Xiaozhou LI
Chinese Journal of Medical Genetics 2025;42(9):1089-1095
OBJECTIVE:
To explore the clinical characteristics and genetic factors in four patients with Disorder of sex development (DSD).
METHODS:
Four patients who visited Tianjin Medical University General Hospital between January 2023 and January 2024, presenting with short stature, abnormal external genitalia, or infertility as their chief complaints, were selected as the study subjects. Clinical data were collected, and peripheral or umbilical cord blood samples were obtained for karyotyping analysis and low-depth whole-genome sequencing (CNV-seq). Quantitative fluorescence PCR (QF-PCR) was used to detect the sex-determining region Y (SRY) gene and azoospermia factor (AZF) on the Y chromosome, while fluorescence in situ hybridization (FISH) was employed to determine the location of the SRY gene. Whole exome sequencing (WES) was performed for genetic testing, and Sanger sequencing was used for familial validation of the candidate variants. The study procedure and protocol were approved by the Medical Ethics Committee of Tianjin Medical University General Hospital (Ethics No.: IRB2024-WZ-006).
RESULTS:
Case 1 had a karyotype of 45,X[22]/46,XY[8], with CNV-seq indicating a mosaic deletion of 7.44 Mb (copy number = 0.2) at Yp11.31-p11.2, a mosaic deletion of 5.32 Mb (copy number = 0.3) at Yq11.1-q11.221, and a deletion of 10.26 Mb (copy number = 0) at Yq11.221-q11.23. Y chromosome microdeletion analysis showed SRY and AZFa (+), AZFb+c (-). Case 2 had a karyotype of 45,X[12]/46,X,del(X)(q26.3)[18], with CNV-seq indicating a mosaic deletion of 132.62 Mb (copy number = 1.4) at Xp22.33-q26.3 and a deletion of 19.62 Mb (copy number = 1) at Xq26.3-q28. Case 3 had a karyotype of 46,XX, with CNV-seq showing two copies of the X chromosome and no Y chromosome. Y chromosome microdeletion analysis showed SRY (+) and AZFa+b+c (-), and FISH confirmed a translocation of the SRY gene to the terminal end of the short arm of the X chromosome. Case 4 had a karyotype of 46,XY, with CNV-seq showing one copy each of the X and Y chromosomes. Y chromosome microdeletion analysis showed SRY(+) and AZFa+b+c (+), and WES revealed a c.1103del variant in the AR gene (maternal origin), which was classified as a pathogenic variant based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) (PVS1+PP1+PM2_Supporting).
CONCLUSION
The combined application of multiple detection techniques such as chromosomal karyotyping analysis, CNV-seq, QF-PCR, and WES can identify the genetic etiology of DSD patients, providing a basis for clinical consultation and treatment plan formulation.
Humans
;
Male
;
Female
;
Chromosomes, Human, Y/genetics*
;
Disorders of Sex Development/genetics*
;
Sex-Determining Region Y Protein/genetics*
;
Karyotyping
;
In Situ Hybridization, Fluorescence
;
Exome Sequencing
;
Adult
;
Child
6.Perceived competencies and training needs of public health nurses in the Philippines: Basis for the development of NurseLEAD: A leadership course on advanced practice nursing in public health.
Julia Czen N. Melendres ; Sheila R. Bonito ; Josephine E. Cariaso ; Luz Barbara P. Dones ; Christiane Jannie B. Sebastian
Acta Medica Philippina 2024;58(12):78-85
BACKGROUND AND OBJECTIVE
Public health nurses (PHNs) perform more than the provision of direct care to clients. They are also expected to perform roles as leaders, managers, and collaborators in different settings, especially in areas where there are no physicians. Their continuous professional development must be facilitated to empower them to lead the delivery of health programs and services in pursuit of universal healthcare. This study aims to determine the perceived competencies of public health nurses and describe their training needs.
METHODSA descriptive, cross-sectional study was utilized, where an online survey was administered to PHNs across the Philippines to determine their self-perceived competencies and training needs based on the eight domains of core competencies of public health professionals. Descriptive statistics was used to summarize the data.
RESULTSA total of 330 PHNs answered the survey. The results showed that at baseline, PHNs perceived themselves to be competent (from most to least) in the following: communication, analytical/assessment, community dimensions of practice, policy development/ program planning, leadership and systems thinking, cultural competency skills, public health science, and financial planning and management. In terms of training needs, the enablers mentioned include a supportive work environment that can provide a work schedule that is inclusive of time for professional development and work-life balance; a learning environment where colleagues and supervisors support the need for training and innovation; strong internet connection; and enough equipment to participate and submit deliverables for courses taken.
CONCLUSIONFilipino public health nurses perceived themselves to be competent in the areas of communication and community practice, but less competent in public health science, and financial planning and management. Future capacity-building programs must be designed to meet this demand. Furthermore, to make training programs truly responsive to the needs of nurses, steps must be taken to promote capacity-building enablers.
Human ; Universal Health Care ; Nursing ; Leadership ; Policy Development ; Public Health Nursing
7.Reflective practice in nursing to enhance critical thinking: A meta-analysis
Philippine Journal of Nursing 2024;94(2):98-105
PURPOSE
Reflective practice is widely recognized as a fundamental component of nursing education and professional development that had the potential to enhance critical thinking skills. This study intended to evaluate the effect of reflective practice interventions on the critical thinking capability of student nurses.
DESIGN AND METHODSThe quantitative, meta-analysis design was employed. CINAHL, Medline, PubMed, Health Sources and Google Scholar databases weresearched forpublications in English until December 2020.The studies were subjected to quality assessment with the JBI checklist, systematic data extraction and statistical analysis using Comprehensive Meta-analysis version 3.0.
FINDINGSA total of four studies satisfied the inclusion criteria. Reflective practice strategies such as journaling/journal writing and self-regulated learning had effectively enhance critical thinking skills of student nurses (summary effect=0.24; 95% CI [0.13-0.44]; p-value= 0.00004). Sensitivity analysis confirmed the strength of the findings and the publication bias was assessed and found to be minimal.
CONCLUSIONReflective practice interventions had positive impact on the improvement of critical thinking capacity of nursing students. With the practical implications for nursing education and professional development, this study had recommended to integrate reflective practice strategies into the curriculum and training programs.
Human ; Reflective Practice ; Cognitive Reflection ; Critical Thinking ; Thinking ; Meta-analysis ; Nursing ; Sustainable Development Goals ; Sustainable Development
8.45X, 46XY mosaicism presenting with virillization in puberty
Hannah Faye Magdoboy-Derla ; Marites A. Barrientos
Philippine Journal of Reproductive Endocrinology and Infertility 2024;21(2):31-38
Disorders of sex development (DSD) are characterized by atypical development of chromosomal, gonadal, or phenotypic sex. 45X,46XY mosaicism is a type of sex chromosome DSD which presents with a wide heterogeneity of manifestations. We report the case of a 13-year-old phenotypically female who presented with clitoromegaly at puberty. Testosterone level was elevated on serology. Out of the 50 cells examined, 43 cells had Monosomy X while 7 cells had a normal male karyotype. She was managed by a multidisciplinary team. Due to the presence of Y chromosome, the solid nodular structure seen on the right gonad in magnetic resonance imaging and the pain caused by the phallus, Laparoscopic bilateral gonadectomy, salpingectomy and clitoroplasty were done after a shared decision making. Histopathology revealed Gonadoblastoma and Germ cell neoplasia-in-situ of the right gonad justifying timely removal. She was then maintained on estrogen for induction of secondary sexual characteristics.
Human ; Female ; Adolescent: 13-18 Yrs Old ; Mosaicism ; Virilism ; Virilization ; Sex Chromosome Disorders Of Sex Development
9.Clinical and genetic analysis of a child with maternal uniparental disomy of chromosome 20.
Chinese Journal of Medical Genetics 2023;40(11):1420-1424
OBJECTIVE:
To explore the clinical and genetic characteristics of a boy with isolated maternal uniparental disomy of chromosome 20 [UPD(20)mat].
METHODS:
A child who was admitted to the Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology on April 8,2021. was selected as the study subject. Phenotypic and endocrinological findings of the child were retrospectively analyzed. Whole exome sequencing (WES) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were carried out for detecting the UPD sequences and copy number variations. Both of his parents were verified by Sanger sequencing. Relevant literature was systematically reviewed.
RESULTS:
The child, a 3-year-and-8-month-old boy born to a 41-year-old mother by Cesarean delivery at 36+2 gestational weeks due to oligohydramia, had a birth weight of 2 300 g and length of 46 cm. He was admitted to the NICU for feeding difficulties which had persisted despite of clinical management. At the age of 3.75, he had a height of 92.5 cm (< 3rd percentile; 25th ~ 50th percentile at 2.5 years) and a weight of 10.8 kg (< 3rd percentile; 50th percentile at 15 months). He had also presented with growth retardation, short stature, attention deficit and hyperactivity disorder (ADHD), mild mental retardation, and speech and language development disorders. He had simian creases in both hands but no additional dysmorphic signs, and his motor development was normal. Serum insulin, thyroid-stimulating hormone, and insulin growth factor binding protein 3 levels were within the normal ranges, though insulin growth factor-1 (IGF-1) was slightly decreased. Since that time he had continuously used atomoxetine hydrochloride capsules to control his ADHD. WES and MS-MLPA revealed the existence of UPD (20)mat.
CONCLUSION
The UPD(20)mat syndrome is characterized by feeding difficulties, growth retardation and short stature. The child in our case has been accompanied by ADHD and speech and language development disorders, which required long-term treatment. For women with advanced maternal age and suggestive phenotypes, genetic testing and counseling should be conducted.
Male
;
Pregnancy
;
Humans
;
Child
;
Female
;
Infant
;
Adult
;
Chromosomes, Human, Pair 20
;
DNA Copy Number Variations
;
Retrospective Studies
;
Uniparental Disomy/genetics*
;
Atomoxetine Hydrochloride
;
Dwarfism
;
Intercellular Signaling Peptides and Proteins
;
Language Development Disorders
;
Growth Disorders
;
Insulins
10.Analysis of clinical outcome of synchronous micro-dissection testicular sperm extraction and intracytoplasmic sperm injection in male infertility with Y chromosome azoospermia factor c region deletion.
Jia Ming MAO ; Lian Ming ZHAO ; De Feng LIU ; Hao Cheng LIN ; Yu Zhuo YANG ; Hai Tao ZHANG ; Kai HONG ; Rong LI ; Hui JIANG
Journal of Peking University(Health Sciences) 2022;54(4):652-657
OBJECTIVE:
To analyze the clinical treatment results of male infertility caused by Y chromosome azoospermia factor c region(AZFc) deletion after synchronous micro-dissection testicular sperm extraction (micro-TESE) and intracytoplasmic sperm injection (ICSI) and to guide the treatment of infer- tile patients caused by AZFc deletion.
METHODS:
The clinical data of infertile patients with AZFc deletion who underwent synchronous micro-TESE in Peking University Third Hospitalfrom January 2015 to December 2019 were retrospectively analyzed. The clinical outcomes of ICSI in the patients who successfully obtained sperm were followed up and we compared the outcomes between the first and second synchronous procedures, including fertilization rate, high-quality embryo rate, clinical pregnancy rate, abortion rate and live birth rate.
RESULTS:
A total of 195 male infertile patients with AZFc deletion underwent micro-TESE. Fourteen patients were cryptozoospermia and their sperms were successfully obtained in all of them during the operation, and the sperm retrieval rate (SRR) was 100%(14/14). The remaining 181 cases were non obstructive azoospermia, and 122 cases were successfully found the sperm, the SRR was 67.4%(122/181). The remaining 59 patients with NOA could not found mature sperm during micro-TESE, accounting for 32.6% (59/181). We followed up the clinical treatment outcomes of the patients with successful sperm retrieved by synchronous micro-TESE and 99 patients were enrolled in the study. A total of 118 micro-TESE procedures and 120 ICSI cycles were carried out. Finally 38 couples successfully gave birth to 22 male and 22 female healthy infants, with a cumulative live birth rate of 38.4% (38/99). In the fresh-sperm ICSI cycle of the first and second synchronous operation procedures, the high-quality embryo rate, clinical pregnancy rate of the fresh embryo transfer cycle and live birth rate of the oocyte retrieve cycle were 47.7% vs. 50.4%, 40.5% vs. 50.0%, and 28.3% vs. 41.2%, respectively. The second operation group was slightly higher than that of the first synchronous operation group, but there was no significant difference between the groups.
CONCLUSION
Male infertility patients caused by AZFc deletion have a high probability of successfully obtaining sperm in testis through micro-TESE for ICSI and give birth to their own offspring with their own biological characteristics. For patients who failed in the first synchronous procedure, they still have the opportunity to successfully conceive offspring through reoperation and ICSI.
Azoospermia/therapy*
;
Chromosome Deletion
;
Chromosomes, Human, Y
;
Female
;
Humans
;
Infertility, Male/therapy*
;
Male
;
Pregnancy
;
Retrospective Studies
;
Semen
;
Sex Chromosome Aberrations
;
Sex Chromosome Disorders of Sex Development
;
Sperm Injections, Intracytoplasmic/methods*
;
Sperm Retrieval
;
Spermatozoa
;
Testis


Result Analysis
Print
Save
E-mail