OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

OBJECTIVE: To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene. METHODS: A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001). RESULTS: Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively. CONCLUSION The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans ; Male ; Child ; Female ; Leukemia, Myeloid, Acute/drug therapy* ; Oncogene Proteins, Fusion/genetics* ; Translocation, Genetic ; Retrospective Studies ; RNA-Binding Protein FUS/genetics* ; Chromosomes, Human, Pair 16/genetics* ; Adolescent ; Child, Preschool ; Chromosomes, Human, Pair 21/genetics* ; Prognosis ; Treatment Outcome

OBJECTIVE: To analyze the clinical characteristics of patients with 11q23 rearrangement acute lymphoblastic leukemia (ALL) with non-KMT2A::AFF1 fusion genes. METHODS: The clinical data of 10 patients with KMT2A fusion gene positive and partner gene non-AFF1 ALL admitted to Henan Cancer Hospital from December 2016 to December 2024 were retrospectively summarized. The immunophenotype, molecular genetic characteristics, clinical manifestations and disease prognosis of these patients were analyzed. This research has been approved by the Medical Ethics Committee of Henan Cancer Hospital (Ethics No.: 2019342). RESULTS: Among the 10 patients, the fusion genes were KMT2A::MLLT1 in 7 cases, KMT2A::MLLT4, KMT2A::MLLT3 and KMT2A::MLLT10 in 1 case each. The European Group for the Immunological Classification of Leukemias (EGIL) classification included 6 cases of T-ALL, 2 cases of pro-B-ALL, 1 case of Common-B-ALL and 1 case of pre-B-ALL. 4 cases of B-ALL all expressed CD19, cCD79a, CD38 and HLA-DR, and some expressed CD34 and CD22, without expression or weak expression of CD10, without expression of CD20. One case was accompanied by myeloid marker CD15 expression. 6 cases of T-ALL all expressed CD34, CD7, most expressed CD38, and some expressed CD3, CD5, CD2, CD4 and CD8, and 1 case expressed CD4 and CD8 together. Chromosomal abnormalities were detected in 3 cases, 5 cases were positive for WT1 fusion gene, and 6 cases had gene alterations. 9 patients achieved the first complete remission (CR1) during chemotherapy, and 1 patient relapsed within 6 months after CR1. At the last follow up, 1 patient (the fusion gene was KMT2A::MLLT4) remained unrelieved. There were 2 cases of KMT2A rearrangement (KMT2A-r) persistent positive (+/+) and 8 cases of KMT2A-r negative (+/-). The overall survival (OS) rate and leukemia-free survival (LFS) rate of patients with KMT2A-r persistent positive were significantly lower than those of patients with negative change, and the differences were statistically significant (P values were all < 0.05). Among the 3 patients who received chemotherapy+allogeneic hematopoietic stem cell transplantation (allo-HSCT), no relapse was observed until the follow up day. The OS rate and LFS rate of patients with KMT2A::MLLT1 and chemotherapy+allo-HSCT were higher than those of non-KMT2A::MLLT1 and single chemotherapy patients, and the differences were not statistically significant (P values were all ≥ 0.05). There was no significant difference in OS rate and LFS rate between T-ALL and B-ALL patients (P values were all ≥ 0.05). The median LFS time of the 10 patients was 32 (0 ~ 100) months, and the median OS time was 36 (1 ~ 101) months. CONCLUSION The 11q23 rearrangement ALL with non-KMT2A::AFF1 transcript is mainly KMT2A::MLLT1, T-ALL is more common, and the rate of chromosomal karyotype detection is relatively low. Persistent positive KMT2A-r is unfavorable for patient survival, and allo-HSCT during the CR1 period may improve patient survival.
Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Female ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Histone-Lysine N-Methyltransferase/genetics* ; Adult ; Adolescent ; Chromosomes, Human, Pair 11/genetics* ; Child ; Transcriptional Elongation Factors/genetics* ; Gene Rearrangement ; Oncogene Proteins, Fusion/genetics* ; Retrospective Studies ; Young Adult ; Middle Aged ; Prognosis ; Child, Preschool ; DNA-Binding Proteins/genetics*

BACKGROUND AND OBJECTIVE

Myeloproliferative disorders are characterized by symptoms that can potentially impair the quality of life of our Filipino patients. The Myeloproliferative Neoplasm Symptom Assessment Form-Total Symptom Score (MPN-SAF TSS) is used to determine symptoms at baseline and during treatment. A validated Filipino version of this questionnaire would be a helpful tool in assessing the burden of symptoms of Filipino patients with MPN. Understanding the symptom burden and symptom experience of patients with MPN is needed in developing a comprehensive wholistic management plan that addresses the physical and emotional aspects of a chronic disease such as MPN. This study aimed to translate the MPN-SAF TSS to the Filipino language.

METHODS

Translation, validation, and reliability testing of the MPN-SAF TSS was done following the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) guidelines for linguistic translation and validation.

RESULTS

No major discrepancies were found on forward and backward translation of the MPN-SAF TSS tool. The 0-10 scoring scale (where 0 = absent/as good as it can be and 10 = worst imaginable/daily/as bad as it can be) was deemed appropriate and was retained. Content and face validity as evaluated by Filipino hematologists showed that majority of the translated questions were relevant. Some words were further improved according to their valid recommendations. Ten MPN patients voluntarily answered the updated Filipino version of the questionnaire for face validity and cognitive debriefing was done to further refine the translation according to the patient’s perspective. The back translation was identical to the original versions of MPN-SAF TSS.

Validity and reliability testing of the revised and translated MPN-SAF TSS among 30 patients with MPN demonstrated that the MPN-SAF TSS Filipino version was conceptually equivalent with the English version, with good internal consistency (Cronbach’s alpha=0.89); excellent reliability with an intraclass correlation coefficient of 0.98 and convergent validity of r=0.77. 

CONCLUSION

The Filipino version of the MPN-SAF TSS was demonstrated to be a valid and reliable tool in evaluating the symptom burden of Filipino patients with MPN.

Human ; Translations

BACKGROUND AND OBJECTIVE

Barangay Health Workers (BHW) are a crucial part of the local health system. Health services at the barangay level are heavily dependent on BHWs. However, despite their significant role in the local health system, support has been minimal and not commensurate with their contributions. The study aimed to identify the perceived external and internal factors that affect the performance of BHWs.

METHODS

The study identified the BHW-perceived external and internal factors affecting performance, through mixed quantitative and qualitative methods. A self-administered questionnaire with a 4-point Likert scale that will assess the factors was given to 561 BHWs from five different upland municipalities of Cavite. A focus group discussion using open-ended questions was conducted to gain an in-depth understanding of their experiences. Emerging themes were reported into narratives.

RESULTS

BHWs maintained a strong level of participation at required health activities, but more than half were often late, owing to their volunteer status and external responsibilities. They were perceived to have a high sense of duty reflected by punctual submission of reports and confidence in delivering health services. Job satisfaction emerged as a substantial motivator while burnout was not a significant demotivator. Leadership and support from local government and health program management were perceived positively by most BHWs. Service delivery confidence was high among BHWs as reflected in their capability to provide expected services. BHWs perceived that challenges were present in terms of the adequacy of medicines and supplies, and on data transmission, although half were generally satisfied with the organization of health records. Human resources were perceived to be sufficient. Financial aspects showed that while most BHWs do not contribute personally to patient care, a significant minority shell out resources for patients, reflecting financial strains within the health system. The study also revealed the varying motivations for volunteering, including community service, staff shortages, knowledge acquisition, and additional income.

CONCLUSION

External and internal factors affect the performance of BHWs at the local level. These were related to current health systems, political climate, personal household duties, and financial status. Despite facing these challenges, the BHWs showed commendable involvement in local health programs. BHWs remained motivated through training opportunities and positive community feedback but were hindered by a lack of health science knowledge and the need for supplementary income.

Human ; Local Government

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

Drug-induced sleep endoscopy (DISE) is used for directly visualizing sites of obstruction among patients with obstructive sleep apnea (OSA). Owing to the scarcity of data, there is still no consensus on the anesthetic regimen for conducting pediatric DISE.

This paper presents a 5-year-old patient who underwent DISE using an opioid-sparing regimen with dexmedetomidine and propofol infusion.

Simultaneous dexmedetomidine and propofol infusion is a promising opioid-sparing regimen for pediatric DISE.

Human ; Male ; Child Preschool: 2-5 Yrs Old ; Endoscopy ; Propofol ; Dexmedetomidine ; Sleep Apnea, Obstructive ; Anesthetics ; Apnea ; Consensus ; Paper ; Patients ; Pharmaceutical Preparations ; Research Report ; Sleep ; Sleep Apnea Syndromes ; World Health Organization

BACKGROUND AND OBJECTIVES

The global pandemic caused by Coronavirus Disease 2019 (COVID-19) has affected millions, with growing evidence of the potential role of ocular tissues in viral transmission. At the time of writing, local data regarding the phenomenon was limited. This study investigated external ocular manifestations in patients with COVID-19 at a referral center in the Philippines, examined correlations between demographics, systemic manifestations, and laboratory results with ocular manifestations, and determined their timing relative to systemic symptoms.

METHODS

This single-center, descriptive cross-sectional study was carried out from December 8 to 18, 2020 at the adult COVID-19 wards of the Philippine General Hospital involving 72 participants. Data collection involved relevant clinical history taking and performing gross eye examination. The prevalence of ocular manifestations was described with 95% confidence intervals. Correlations between ocular manifestations and quantitative variables were analyzed with point-biserial correlation, and associations with qualitative variables were tested using chi-square or Fisher’s exact tests.

RESULTS

Among participants, 31.9% presented with ocular manifestations with foreign body sensation as the most prevalent ocular symptom (11.1%) and conjunctival hyperemia as the most prevalent ocular finding (19.4%). The median age of patients with ocular manifestations was 41 years old with a higher prevalence in the male population (73.9%, CI=95%, p=0.001). No significant correlation was observed between presence of external ocular manifestations and the different systemic and ocular co-morbidities as well as with COVID-19 clinical classification. Among those who experienced symptoms, majority (29.2%) of the patients experienced systemic symptoms prior to the onset of ocular symptoms. Ocular complaints may present as the sole manifestation (13.9%). Several laboratory parameters were measured and only temperature and AST levels showed a low positive correlation with the presence of ocular manifestations. 

CONCLUSION

Ocular manifestations occur in roughly one third of patients with COVID-19 based on this study population. With some individuals presenting with ocular signs or symptoms as the initial and sole manifestation, healthcare practitioners must exercise caution and remain vigilant in managing patients who present as such. At the time of writing, this is the first local study investigating the different external ocular manifestations in patients with COVID-19. There is a need to pursue more robust studies and conduct more local investigations which will guide both ophthalmologists and other practitioners in strengthening existing guidelines regarding precautionary practices, clinical diagnosis, and management of COVID-19 patients.

Human ; Sars-cov-2 ; Covid-19 ; Philippines ; Adult ; Association ; Classification ; Collection ; Confidence Intervals ; Coronavirus ; Cross-sectional Studies ; Data Collection ; Demography ; Diagnosis ; Disease ; Exercise ; Eye ; Foreign Bodies ; History ; Hospitals ; Hospitals, General ; Hyperemia ; Laboratories ; Male ; Morbidity ; Ophthalmologists ; Pandemics ; Patients ; Population ; Prevalence ; Referral And Consultation ; Role ; Sensation ; Temperature ; Time ; Tissues ; Volition ; World Health Organization ; Writing

Congenital divided nevus of the eyelids is a rare form of melanocytic nevus which involves contiguous portions of the upper and lower eyelid margins unilaterally, hence the term ‘kissing nevus’. While usually present at birth, these nevi may also appear later in life. When the mass enlarges, it may cause cosmetic issues to the patient, as well as functional problems such as mechanical ptosis, ectropion, and epiphora.

We report three cases of congenital divided nevus of the eyelids, all presenting with unilateral upper and lower hyperpigmented lid masses since birth. The first case had an upper lid mass measuring 11 mm x 19 mm, and a lower lid mass measuring 55 mm x 47 mm, with both masses extending into the palpebral conjunctiva, and causing severe ptosis and corneal neovascularization due to chronic irritation. The second case presented with hyperpigmented masses at the lateral third of the right upper eyelid measuring 8 mm x 17 mm and of the lower eyelid measuring 9 mm x 15 mm on the lower lid with lashes growing through the masses. There was extension of the mass into the palpebral conjunctiva. The third case presented with a 23 x 18 mm hyperpigmented, well-circumscribed, verrucated mass at the medial half of the upper eyelid crossing the eyelid margin, and a 15 x 13 mm lesion at the medial third of the lower lid with the same characteristics, with small crusty lesions and clotted blood. All three patients underwent excision biopsy with lid reconstruction using full thickness skin grafts from the supraclavicular area. Six months postoperatively, the first case underwent a repeat full thickness skin graft due to graft contraction, and also received two sessions of fractional carbon dioxide (CO2 ) laser, two sessions of intralesional triamcinolone injections, and silicone gel application with further improvement of graft healing and scarring. The second case also underwent two sessions of intralesional steroid injection for scar management. During follow-up, which spanned 13 months for the first case, 10 months for the second case, and two months for the third case, improved functional and cosmetic outcomes were observed.

This case series highlights the outcomes of the most common surgical technique done for congenital divided nevi of the eyelids. Congenital divided nevi are usually diagnosed clinically and malignant degeneration is rare, hence lid reconstruction may be done without frozen section. The cases in the series were treated due to cosmetic and functional purposes, hence the importance of continuous post-operative follow-up to monitor for graft dehiscence, scar development, recurrence of the mass, malignant degeneration, and development of lid malposition. Additional procedures for scar management, such as CO2 laser and intralesional steroid injections, may be necessary to further enhance outcomes in complex cases. All three cases in this series exhibited improved functional and cosmetic outcomes post-operatively, with significant reduction in ptosis and scarring. Longterm follow-up revealed satisfactory recovery with minimal complications, with no recurrence nor malignant degeneration.

Human ; Male ; Female ; Adult: 25-44 Yrs Old ; Young Adult: 19-24 Yrs Old ; Nevus ; Nevus, Pigmented

BACKGROUND

Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by inflammatory arthritis and extra-articular involvement. Comorbidities are highly prevalent in patients with RA, in particular cardiovascular disease (CVD), which is responsible for over 50% of premature deaths. This study aimed to describe cardiovascular diseases and their risk factors among patients with rheumatoid arthritis in the Philippine General Hospital (PGH).

OBJECTIVE

To describe cardiovascular (CV) diseases and their risk factors among patients with rheumatoid arthritis.

METHODS

A retrospective descriptive cross-sectional study was done in the University of the Philippines – Philippine General Hospital (UP-PGH) inpatient and outpatient services. The study included patients 18 years old and above diagnosed with RA and fulfills the 1987 American College of Rheumatology or 2010 American College of Rheumatology-European League Against Rheumatism (ACR/EULAR) classification criteria with no overlap features with other autoimmune connective tissue diseases and with complete records of the information required for the study from January 2019-December 2022. The primary outcomes of interest were the prevalence of CV diseases and CV risk factors. Descriptive statistics were used to summarize the data.

RESULTS

There were 123 patients in the study, 93.4% outpatients, and 95.1% females, with a mean age and disease duration of 51.3 and 9.8 years, respectively. Disease activity was moderate in 35% and high in 9.7%, based on disease activity score (DAS 28) or clinical disease activity index (CDAI) scores. Methotrexate (54%) was the most commonly used conventional synthetic disease-modifying antirheumatic drug (csDMARD). Glucocorticoid use was observed in 51.2%. None of the patients were receiving a biologic DMARD. There were 24 (19.5%) patients with CV diseases, namely myocardial infarction, heart failure, and stroke. There were 87 (70%) patients with at least one CV risk factor and 62 (50.4%) with multiple risk factors. The risk factors identified were: dyslipidemia (43.1%), hypertension (40.7%), elevated body mass index (35.7%), and diabetes mellitus (15.4%). There were f ive deaths in the hospitalized patients (4%), one due to a myocardial infarction.

CONCLUSION

The majority (70%) in our cohort had at least one CV risk factor, 19.5% had an identified CV disease, and one died from a myocardial infarction. Dyslipidemia was the most common CV risk factor. The high proportion of patients with CV disease and CV risk factors highlights the need to add the screening and management of CV diseases and risk factors as a priority among patients with rheumatoid arthritis.

Human ; Female ; Cardiovascular Diseases ; Arthritis, Rheumatoid ; Asian