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

BACKGROUND AND OBJECTIVES

Hepatobiliarypancreatic tuberculosis (HBPTB) is a less common form of tuberculosis that often presents as malignancy or lithiasis. Advances in diagnostics and minimally invasive procedures have led to the detection of more patients with milder forms of TB requiring surgical management. Due to the low incidence rates and lack of standardized approaches, additional studies are needed to improve patient outcomes. This study examined the risk factors, diagnostic methods, and treatments for HBPTB patients at the University of the Philippines – Philippine General Hospital (UP-PGH) from January 1, 2014 to December 31, 2021.

METHODS

This retrospective descriptive study utilized our institutional database to identify patients who underwent a surgical procedure for HBPTB and their associated risk factors. Inclusion criteria required biopsy or microbiologic proof of tuberculous involvement of the biliary tract or nearby structures.

RESULTS

Among a total of 45 patients, the most common admitting diagnosis were HBP tuberculosis (37.8%) and malignancy (35.6%). 47.6% of patients had a previous or concurrent TB exposure. Sixty percent had subclinical malnutrition indicated by normal weight and low albumin. The liver (37.8%) and the bile ducts (33.3%) were the most common organs involved. The most common surgical procedures done were ultrasound-guided liver biopsy, biliary enteric anastomosis, percutaneous transhepatic biliary drainage (PTBD), and endoscopic retrograde cholangiopancreatography with or without stenting (ERCP).

CONCLUSIONS

This study provides additional data for clinicians to tailor diagnostic and treatment plans accordingly. Striking a balance between surgical procedures and appropriate anti-tuberculous therapy (ATT) is essential for successful treatment. Local data can be useful to help identify tuberculosis patterns unique to Filipinos and highlight socio-economic factors contributing to this rare presentation of TB.

Human ; Tuberculosis, Extrapulmonary ; Biliary Tract Diseases ; General Surgery ; Acute Care Surgery ; Liver Diseases ; Pancreas

Myeloid sarcoma is a tumor that demonstrates extramedullary proliferation of myeloid blasts with or without maturation. It may present as an isolated tumor or may have peripheral or marrow involvement. The diagnosis of myeloid sarcoma is highly challenging as it may mimic other tumors.

A 71-year-old woman with an Eastern Cooperative Oncology Group (ECOG) performance score of 2 presented with a progressively enlarging right facial mass that had been growing for 18 months. Initially, it appeared as a 1x1 cm erythematous pustular lesion. A core biopsy suggested carcinoma, but COVID-19 delayed immunohistochemical (IHC) testing.

As the mass grew, eventually covering more than half of her face, a CT scan revealed a large, multilobulated mass involving the periorbital areas, nose, and upper lip. A repeat biopsy showed atypical round cell proliferation, and immunohistochemical staining confirmed myeloid sarcoma with CD34 and CD117 positivity. Bone marrow aspiration and biopsy ruled out leukemia.

The diagnosis of non-leukemic myeloid sarcoma was established. The patient was referred to plastic surgery, ophthalmology, and otorhinolaryngology for co-management of the mass. Initial treatment began with azacitidine, a hypomethylating agent. However, after completing only one cycle of chemotherapy, she declined further treatment for personal reasons, choosing not to continue with the planned therapeutic regimen.

Non-leukemic myeloid sarcoma of the face in an elderly patient is rare. Diagnosis was confirmed via biopsy and immunohistochemical studies. Treatment with azacitidine was chosen based on the patient’s ECOG score of 2. However, there is no consensus on its management, and the role of systemic chemotherapy remains debated. Continuous monitoring for progression to acute myeloid leukemia (AML) is crucial, as early detection significantly impacts prognosis and informs treatment decisions.

Human ; Female ; Aged: 65-79 Yrs Old ; Sarcoma, Myeloid ; Leukemia, Myeloid, Acute