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

Pediatric acute liver failure (PALF) is a rare and critical clinical syndrome with a poor prognosis. Its etiology is complex, with a significant proportion of cases having remained classified as indeterminate or cryptogenic PALF. With the application of high-throughput sequencing technologies, a spectrum of disorders caused by specific genetic metabolic defects and characterized by stress-sensitive Recurrent acute liver failure (RALF) has been gradually unveiled, collectively termed Infantile liver failure syndrome (ILFS). Although the molecular mechanisms underlying the subtypes ILFS1, ILFS2, and ILFS3 differ by involving aminoacyl-tRNA synthetase defects, vesicular transport disorders, and autophagy abnormalities, respectively, they share a common clinical phenotype of RALF triggered by fever or infection. This article has systematically reviewed the clinical phenotypic spectrum, molecular genetic characteristics, differential diagnosis strategies, and therapeutic advances of the three ILFS subtypes, with the goal of improving early clinical recognition and precise intervention, and providing an important reference for evaluating the prognosis of different subtypes.
Humans ; Liver Failure, Acute/therapy* ; Infant ; Diagnosis, Differential

BACKGROUND AND OBJECTIVE

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) as the causative agent of COVID-19 has significantly challenged the public health landscape in late 2019. After almost 3 years of the first ever SARS-CoV-2 case, the World Health Organization (WHO) declared the end of this global health emergency in May 2023. Although, despite the subsequent drop of COVID-19 cases, the SARS-CoV-2 infection still exhibited multiple waves of infection, primarily attributed to the appearance of new variants. Five of these variants have been classified as Variants of Concern (VOC): Alpha, Beta, Gamma, Delta, and the most recent, Omicron. Therefore, the development of methods for the timely and accurate detection of viral variants remains fundamental, ensuring an ongoing and effective response to the disease. This study aims to evaluate the feasibility of the application of an in-house approach in genomic surveillance for the detection of SARS-CoV-2 variants using in silico designed primers.

METHODS

The primers used for the study were particularly designed based on conserved regions of certain genes in the virus, targeting distinct mutations found in known variants of SARS-CoV-2. Viral RNA extracts from nasopharyngeal samples (n=14) were subjected to quantitative and qualitative tests (Nanodrop and AGE). Selected samples were then analyzed by RT-PCR and amplicons were submitted for sequencing. Sequence alignment analysis was carried out to identify the prevailing COVID-19 variant present in the sample population.

RESULTS

The study findings demonstrated that the in-house method was able to successfully amplify conserved sequences (spike, envelope, membrane, ORF1ab) and enabled identification of the circulating SARS-CoV-2 variant among the samples. Majority of the samples were identified as Omicron variant. Three out of four designed primers effectively bound into the conserved sequence of target genes present in the sample, revealing the specific SARSCoV-2 variant. The detected mutations characterized for Omicron found in the identified lineages included K417N, S477N, and P681H which were also identified as mutations of interest. Furthermore, identification of the B.1.448 lineage which was not classified in any known variant also provided the potential of the developed in-house method in detecting unknown variants of COVID-19.

CONCLUSION

Among the five VOCs, Omicron is the most prevalent and dominant variant. The in-house direct PCR product sequencing surveillance (DPPSS) method provided an alternative platform for SAR-CoV-2 variant analysis which is accessible and affordable than the conventional diagnostic surveillance methods and the whole genome sequencing. Further evaluation and improvements on the oligonucleotide primers may offer significant contribution to the development of a specific and direct PCRbased detection of new emerging COVID-19 variants.

Sars-cov-2 ; Polymerase Chain Reaction ; Dna Primers ; Oligonucleotide Primers ; Computer Simulation ; Conserved Sequence ; Coronavirus ; Covid-19 ; Disease ; Emergencies ; Evaluation Studies As Topic ; Genes ; Genome ; Global Health ; Health ; Identification (psychology) ; Infection ; Infections ; Membranes ; Methods ; Mutation ; Oligonucleotides ; Organizations ; Population ; Public Health ; Rna ; Rna, Viral ; Sars Virus ; Sequence Alignment ; Severe Acute Respiratory Syndrome ; Syndrome ; Viruses ; Whole Genome Sequencing ; World Health Organization

INTRODUCTION

Acute coronary syndrome (ACS) and end-stage renal disease (ESRD) are both prevalent globally. The diagnosis and management of ACS in ESRD is difficult because the interplay of cardiovascular and renal disease is complicated. The guidelines for ACS may not be applicable to the ESRD population because the trials from which these are drawn mostly excluded ESRD patients.

OBJECTIVE

To determine the clinical profile and outcomes of CKD patients on dialysis admitted for ACS in the Philippine General Hospital (PGH).

METHODS

We did a retrospective cohort study and employed a retrospective review of electronic medical records among ESRD patients presenting with ACS in PGH from May 2021 to November 2023. The collected data was analyzed using univariate and bivariate statistics using PRISM software.

RESULTS

A total of 48 patients with ESRD were admitted for ACS in this study – 8 with STEMI and 40 with NSTEMI. The mean age was 61 years old and 33 (68.8%) were male. Among those with STEMI, six (75%) presented with Kilip II or more. While among those with NSTEMI, 17 (42.5%) had a GRACE score >140 and 27 (67.5%) had an NSTEMI TIMI risk score >2. On average, the patients were on hemodialysis for 31 months prior to admission. The most common comorbidities were hypertension (91.7%) and heart failure (83.3%). On admission, 18 (37.5%) presented with SBP >160, 7 (14.6%) patients presented with shock, and 4 (8.3%) patients presented with cardiac arrest. 38 (79.2%) patients had anemia on admission. 21 (43.8%) patients had left ventricular hypertrophy on electrocardiogram while 34 (70.8%) patients had cardiomegaly on chest radiography. The average left ventricular ejection fraction on echocardiogram was 46% and 27 (90%) patients had segmental wall motion abnormalities. The most common angiographic finding was 3-vessel coronary artery disease seen in 50% of patients. Almost all patients received dualantiplatelet therapy, high dose statin, and beta-blocker. The mortality rate was high at 43.8% with cardiovascular causes being the most common cause of death.

CONCLUSION

This study demonstrates the high mortality rate among patients with ESRD presenting with ACS. Our study portrays that patients with ESRD present with higher risk features including abnormalities in vital signs, laboratories, imaging, high prognostications score, and high in-hospital morbidity.

Human ; Kidney Failure, Chronic ; End-stage Renal Disease ; Acute Coronary Syndrome ; Myocardial Infarction

Omental torsion is a rare cause of acute surgical abdomen from omental twisting leading to distal vascular compromise. Preoperative diagnosis has been a dilemma as clinical features, laboratory and radiographic findings are nonspecific and variable, closely mimicking acute appendicitis. Surgical excision has been suggested to offer rapid symptom relief and postoperative recovery. Presented here is a case of a 59-year-old male with omental torsion who presented with generalized abdominal tenderness and was preoperatively diagnosed as ruptured appendicitis who underwent laparotomy with uneventful post-operative course.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; Abdomen, Acute ; Appendicitis

BACKGROUND

Acute myocardial infarction (AMI) is the leading cause of morbidity and mortality among Filipinos. The guideline-recommended treatment for AMI includes emergency care, early electrocardiogram, emergent coronary angiogram and angioplasty, intensive care, medical management and cardiac rehabilitation. However, the cost of treatment is very high and not affordable for most Filipinos. To address this, the Philippine Health Insurance Corporation (PHIC) released the ischemic heart disease – acute myocardial infarction (IHD-AMI) Benefits Package under Circular No. 2024-0032 on December 21, 2024. This package significantly increased the insurance coverage for AMI to include invasive procedures and cardiac rehabilitation. The UP-Philippine General Hospital (UP-PGH) was the first to implement this package. This paper documents the initial planning, system changes and innovations undertaken by UP-PGH to support implementation.

METHODOLOGY

This qualitative descriptive study used retrospective document review to detail revision of the existing acute coronary syndrome (ACS) pathway and development of the AMl pathway, restructuring of patient flow and upgrades in infrastructure and hospital capabilities. Meeting minutes from the Division of Cardiovascular Medicine and UP-PGH were reviewed to describe the hospital's preparation and implementation process.

RESULTS

UP-PGH established an efficient, evidence-based ACS and AMI pathway. Hospital protocols, staffing, infrastructure and equipment were aligned to implement the PHIC IHD-AMI Benefit Package. Key steps included resources upgrade, stakeholder consultations, pathway redesign, workflow development, process alignment and monitoring systems.

CONCLUSION

The PHIC IHD-AMI Benefit Package can be successfully implemented in a tertiary hospital with catheterization laboratory. The documented process at UP-PGH can serve as a model for other institutions planning to utilize the package.

Myocardial Infarction ; Myocardial Ischemia ; Acute Coronary Syndrome ; Insurance, Health ; Philippines

BACKGROUND

Acute myocardial infarction (AMI) is the leading cause of morbidity and mortality among Filipinos. The guideline-recommended treatment for AMI includes emergency care, early electrocardiogram, emergent coronary angiogram and angioplasty, intensive care, medical management and cardiac rehabilitation. However, the cost of treatment is very high and not affordable for most Filipinos. To address this, the Philippine Health Insurance Corporation (PHIC) released the ischemic heart disease – acute myocardial infarction (IHD-AMI) Benefits Package under Circular No. 2024-0032 on December 21, 2024. This package significantly increased the insurance coverage for AMI to include invasive procedures and cardiac rehabilitation. The UP-Philippine General Hospital (UP-PGH) was the first to implement this package. This paper documents the initial planning, system changes and innovations undertaken by UP-PGH to support implementation.

METHODOLOGY

This qualitative descriptive study used retrospective document review to detail revision of the existing acute coronary syndrome (ACS) pathway and development of the AMl pathway, restructuring of patient flow and upgrades in infrastructure and hospital capabilities. Meeting minutes from the Division of Cardiovascular Medicine and UP-PGH were reviewed to describe the hospital's preparation and implementation process.

RESULTS

UP-PGH established an efficient, evidence-based ACS and AMI pathway. Hospital protocols, staffing, infrastructure and equipment were aligned to implement the PHIC IHD-AMI Benefit Package. Key steps included resources upgrade, stakeholder consultations, pathway redesign, workflow development, process alignment and monitoring systems.

CONCLUSION

The PHIC IHD-AMI Benefit Package can be successfully implemented in a tertiary hospital with catheterization laboratory. The documented process at UP-PGH can serve as a model for other institutions planning to utilize the package.

Myocardial Infarction ; Myocardial Ischemia ; Acute Coronary Syndrome ; Insurance, Health ; Philippines

Introduction: Severe hypertriglyceridemia during pregnancy is a rare yet potentially life-threatening disorder. It is frequently linked to acute pancreatitis and poses considerable risks for both maternal and fetal morbidity. Case: We report a 35-year-old G4P3 female at 33 + 6 weeks gestation with underlying type 2 diabetes mellitus who presented with acute abdominal pain, nausea, vomiting, and poor oral intake, initially mistaken for preterm labor and sepsis. Further evaluation revealed profound hypertriglyceridemia (triglycerides 79.1 mmol/L) with markedly elevated total cholesterol (>32 mmol/L) and raised serum amylase, consistent with hypertriglyceridemia-induced acute pancreatitis. She was managed in a multidisciplinary setting with intravenous insulin infusion, dextrose supplementation, aggressive fluid resuscitation, and empiric antibiotics. Due to clinical deterioration and ongoing risk of maternal complications, she underwent emergency lower segment caesarean section and exploratory laparotomy at 34 weeks of gestation. Intraoperative findings included inflammatory intra-abdominal fluid and a bulky pancreas, supporting the diagnosis. Rapid biochemical improvement was observed following treatment, with triglyceride levels decreasing by approximately 70% within 24 hours (79.1– 24.0 mmol/L) and achieving >90% reduction over 10 days. Postpartum management included initiation of omega-3 fatty acids, fibrate, and statin therapy, resulting in sustained lipid control. Ophthalmologic examination demonstrated lipemia retinalis, further confirming severe dyslipidemia. Conclusion This case highlights the importance of early recognition of severe hypertriglyceridemia in pregnancy, particularly in patients with metabolic risk factors such as diabetes. Prompt initiation of insulin therapy can achieve rapid triglyceride reduction and may obviate the need for plasmapheresis in selected cases. Delivery should be considered in the setting of maternal instability. Long-term lipid management postpartum is essential for preventing recurrence and reducing future metabolic risk. A multidisciplinary approach remains critical in optimizing both maternal and fetal outcomes in this rare but serious condition.
Female ; Pregnancy ; Acute Disease ; Pancreatitis

Introduction: Mixed-phenotype acute leukemia (MPAL) is a rare, biologically highrisk acute leukemia characterized by blasts expressing markers of more than one hematopoietic lineage. It accounts for <4% of acute leukemias. MPAL with B- and T-lineage differentiation (MPAL-B/T) is exceptionally rare, comprising ~6% of MPAL cases, with limited pediatric reports. Accurate recognition is critical, as this entity carries distinct therapeutic and prognostic implications compared with lineage-defined leukemias. Case Presentation: We report a 12-year-old Filipino female presenting with epistaxis, pallor, and easy bruising. Laboratory studies revealed severe anemia, hyperleukocytosis, and circulating blasts. Peripheral blood flow cytometry revealed 73% blasts co-expressing T-lineage markers (surface and cytoplasmic CD3, CD5, CD7) and B-lineage markers (CD19, cytoplasmic CD79a), with CD34 and HLA-DR. Bone marrow flow cytometry confirmed persistent dual-lineage expression in blasts comprising 21% of total events. Discussion: The findings meet WHO diagnostic criteria for MPAL, with definitive T-lineage assignment via cCD3 and strong B-lineage expression with CD19 and cCD79a. By European Group for the Immunological Classification of Leukemias criteria, lineage scores were 3.5 (T) and 3 (B), consistent with biphenotypic leukemia. MPAL has inferior survival compared with lineage-defined ALL and remains therapeutically challenging due to uncertainty in optimal induction strategy. Emerging data support ALL-directed regimens with risk-adapted consolidation, underscoring that precise immunophenotypic classification informs treatment algorithms and risk stratification. Misclassification as isolated T-ALL or B-ALL may lead to inappropriate therapy and poorer outcomes. Conclusion To our knowledge, this is the first reported Filipino pediatric MPALB/T case, emphasizing the need for comprehensive immunophenotyping and local molecular and outcome data to guide evidence-based management.
Leukemia, Biphenotypic, Acute ; Phenotype ; T-Lymphocytes

OBJECTIVES: To investigate the clinical sub-phenotype (SP) of pediatric acute kidney injury (AKI) and their association with clinical outcomes. METHODS: General status and initial values of laboratory markers within 24 hours after admission to the pediatric intensive care unit (PICU) were recorded for children with AKI in the derivation cohort (n=650) and the validation cohort (n=177). In the derivation cohort, a least absolute shrinkage and selection operator (LASSO) regression analysis was used to identify death-related indicators, and a two-step cluster analysis was employed to obtain the clinical SP of AKI. A logistic regression analysis was used to develop a parsimonious classifier model with simplified metrics, and the area under the curve (AUC) was used to assess the value of this model. This model was then applied to the validation cohort and the combined derivation and validation cohort. The association between SPs and clinical outcomes was analyzed with all children with AKI as subjects. RESULTS: In the derivation cohort, two clinical SPs of AKI (SP1 and SP2) were identified by the two-step cluster analysis using the 20 variables screened by LASSO regression, namely SP_d1 group (n=536) and SP_d2 group (n=114). The simplified classifier model containing eight variables (P<0.05) had an AUC of 0.965 in identifying the two clinical SPs of AKI (P<0.001). The validation cohort was clustered into SP_v1 group (n=156) and SP_v2 group (n=21), and the combined derivation and validation cohort was clustered into SP1 group (n=694) and SP2 group (n=133). After adjustment for confounding factors, compared with the SP1 group, the SP2 group had significantly higher incidence rates of multiple organ dysfunction syndrome and death during the PICU stay (P<0.001), and SP2 was significantly associated with the risk of death within 28 days after admission to the PICU (P<0.001). CONCLUSIONS This study establishes a parsimonious classifier model and identifies two clinical SPs of AKI with different clinical features and outcomes.The SP2 group has more severe disease and worse clinical prognosis.
Humans ; Acute Kidney Injury/diagnosis* ; Prognosis ; Male ; Female ; Child ; Child, Preschool ; Phenotype ; Infant ; Logistic Models ; Adolescent