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

Introduction: COVID-19 pandemic placed unprecedented strain on hospital resources and manpower. This study assesses the impact of Malaysia’s nationwide lockdown on the incidence, types, severity, and outcomes of emergency general surgery (EGS) cases at a tertiary care hospital. Methods: This retrospective cohort study analysed the data of patients who underwent EGS procedures for the period 2017 and 2021. Results: During the pandemic period, there was a 48.3% reduction in EGS cases (n=889) compared to the pre-pandemic period (n=1720). Significant reductions were observed in surgeries for appendicitis, soft tissue infection, colorectal, urology, peptic ulcer, and vascular disorders in the COVID period. Conversely, procedures for biliary disorders and hernia complications increased by 7.4% and 5.5%, respectively. Length of hospital stay increased by 57.8% for patients with small bowel disorders, while ICU/HDU admissions rose by 43.5% for colorectal cases (P < 0.05). There was no significant difference in mortality rates between the two periods. Conclusions The overall reduction in EGS procedures during the COVID-19 period was consistent with global trends. Despite the challenges posed by the pandemic, the outcomes related to duration of stay, ICU/HDU utilisation, and mortality remained comparable to the pre-pandemic period. These findings highlight the adaptability of healthcare professionals in maintaining continuity and quality of emergency surgical care during a crisis.
Acute Care Surgery ; COVID-19 ; Pandemics

RATIONALE AND OBJECTIVES

The burden of acute myeloid leukemia (AML) is felt worldwide with increasing number of diagnosed cases. A recommended treatment option for a longer remission is hematopoietic stem cell transplantation after chemotherapy with cytarabine and an anthracycline antibiotic, either Idarubicin or Daunorubicin. In the Philippines, Doxorubicin, a cheaper and more accessible option for chemotherapy among those who have financial incapabilities. It is no longer part of the National Comprehensive Cancer Network (NCCN) recommendation for use however; it remains to be part of the Philippine National Clinical Practice Guideline in the treatment of AML. This leads us to wonder what the difference in outcome of patients who have received doxorubicin compared to those who received Idarubicin as induction chemotherapy.

RESEARCH DESIGN AND METHODOLOGY

This is a retrospective cohort study. Data was collected through chart review of AML patients admitted for induction chemotherapy. Descriptive statistics was used to analyze the sociodemographic and clinical profile of patients. Survival analysis was done using the Kaplan-Meier computation. The t-test for two proportions was used to compare outcomes between the two groups.

RESULTS

This study included 65 participants, 55 received idarubicin and 10 received doxorubicin. The average age of diagnosis in the Idarubicin group is 41.38 years, and 34.9 years in the Doxorubicin group. Majority of participants are females (58.18% vs 80%) and married (67.27% vs 60%). They are predominantly nonsmokers (89.09% vs 80%), with no maintenance medications (61.82% vs 70%), and comorbidities (70.91% vs 90%). There was no significant difference in the median overall survival of both groups (507 days vs 428 days, logrank test = 0.74).

DISCUSSION AND CONCLUSION

Outcomes of this study leads us to conclude that Doxorubicin is not inferior to Idarubicin in terms of survival.

Human ; Acute Myelogenous Leukemia ; Leukemia, Myeloid, Acute ; Idarubicin ; Doxorubicin ; Induction Chemotherapy ; Survival

BACKGROUND

In the Philippines, Acute Coronary Syndrome (ACS) is a major cause of mortality. Recognizing high-risk ACS patients quickly is crucial. The Modified Shock Index (MSI), a concise bedside risk scoring system, may enhance triaging by predicting short-term outcomes, facilitating a more aggressive approach for timely intervention.

OBJECTIVES

The aim of this study is to determine MSI’s predictive value for in-hospital mortality in ACS patients, comparing its sensitivity and specificity to Thrombolysis In Myocardial Infarction (TIMI) risk scoring. It also intends to determine association between MSI and major adverse cardiovascular events (MACE).

METHODS

This retrospective cohort study was conducted in a tertiary hospital with 172 patients aged 18 and above admitted for ACS from January 2017 to December 2022, focused on in-hospital mortality as the primary outcome and other MACE as secondary outcomes. Chi-square test customized for multiple response sets was done to determine association between MSI and clinical outcomes. The study employed ROC analysis for MSI, generating a curve to illustrate sensitivity-specificity trade-offs, Youden Index determined to identify optimal cut-off points, and DeLong’s test to compare efficacy of MSI and TIMI.

RESULTS

A high MSI (≥1) was significantly and independently linked to in-hospital all-cause mortality in ACS patients (p < 0.001). MSI exhibits 82.35% sensitivity and 82.89% specificity for predicting in-hospital mortality. Chi-square test customized for multiple response sets revealed statistically significant association between MSI and the occurrences of cardiogenic shock, revascularization, life-threatening arrhythmia, and cardiac arrest. ROC analysis reveals MSI and TIMI scores as strong predictors (AUC values: 0.848 and 0.787 respectively), with comparable performance indicated by the DeLong test.

CONCLUSION

MSI proved a reliable parameter for predicting in-hospital mortality in patients presenting with ACS in Notre Dame de Chartres Hospital.

Human ; Acute Coronary Syndrome

BACKGROUND

Chest pain is a common reason for emergency room visits. The HEART score is used as a risk stratification tool to aid in clinical decision making. The HEART score is a useful tool due to its good sensitivity, however it has low specificity. The SVEAT score was developed as an improved risk stratification tool which outperformed the HEART score in previous studies. Both the performance of HEART and SVEAT scores lack data in our locality.

OBJECTIVE

To compare the performance of Symptoms, Vascular disease, Electrocardiography, Age, Troponin-I (SVEAT) score and History, Electrocardiography, Age, Risk factors, Troponin-I (HEART) score as predictors of in-hospital Major Adverse Cardiovascular Events (MACE) among adult patients admitted in Chong Hua Hospital Cebu for chest pain.

METHODS

This single-center, retrospective, observational analytic study included adult patients, ages 18 years old and above, who were admitted for chest pain from January 1, 2022 to December 31, 2022. All patients who passed the inclusion and exclusion criteria were included in the data analysis. Both SVEAT and HEART scores were calculated for each of the included subjects. The performance of both scoring criteria was compared using logistic regression and area under the receiving-operator characteristic curve.

RESULTS

A total of 113 cases were analyzed after exclusion criteria were applied. A total of 50 (44.2%) individuals suffered MACE. The difference in AUC of both SVEAT (0.946, 95%CI) and HEART (0.936, 95%CI) was not statistically significant (95% CI – 0.013 – 0.033, p = 0.400). With a cut-off ofCONCLUSION

SVEAT and HEART scores had similar performance in predicting in hospital MACE. Using a cut-off value of
Human ; Chest Pain ; Heart ; Myocardial Infarction ; Acute Coronary Syndrome

INTRODUCTION: The National Institute of Health and Care Excellence (NICE) has defined the terms, 'acute coronavirus disease 2019' (COVID-19), 'ongoing symptomatic COVID-19' and 'post-COVID-19 syndrome', with the latter two described as having persistent symptoms after the onset of COVID-19 symptoms for 4-12 weeks and >12 weeks, respectively. Persistent symptoms can either be due to the after-effects of COVID-19 or new-onset diseases after acute COVID-19. All symptoms observed beyond 4 weeks after the onset of COVID-19 need not be present at the time of onset. Previous studies on persistent post-COVID-19 symptoms have not mentioned new-onset diseases after acute COVID-19, and only a select few studies have discussed such new-onset symptoms. METHODS: Ninety-five patients who attended the post-COVID-19 clinic completed the requisite follow-up till 16 weeks after COVID-19 symptom onset. Data was recorded on a predesigned proforma. Necessary investigations were conducted to rule out any other cause of persistent symptoms. RESULTS: Fatigue (62.1%), breathlessness (50.5%) and cough (27.4%) were the most common symptoms present beyond 4 weeks after the onset of COVID-19 symptoms. Forty-nine (51.57%) patients developed post-COVID-19 syndrome - their severity of symptoms (odds ratio [OR] 17.77) and longer duration of hospital stay (OR 1.095) during acute disease were significantly associated with the development of post-COVID-19 syndrome. During follow-up, 25 patients developed new-onset symptoms, such as diabetes mellitus, hypertension and idiopathic tachycardia. CONCLUSION Patients can have persistent symptoms, new-onset symptoms and new-onset diseases after recovery from acute COVID-19.
Humans ; COVID-19/diagnosis* ; Female ; Male ; Prospective Studies ; Middle Aged ; Adult ; Fatigue/etiology* ; Post-Acute COVID-19 Syndrome ; SARS-CoV-2 ; Aged ; Cough/etiology* ; Dyspnea/etiology*

INTRODUCTION: Health literacy plays an essential role in one's ability to acquire and understand critical medical information in the coronavirus disease 2019 (COVID-19) infodemic and in other pandemics. We aimed to summarise the assessment, levels and determinants of pandemic-related health literacy and its associated clinical outcomes. METHODS: A systematic review was performed in Medline ® , Embase ® , PsycINFO ® , CINAHL ® and four major preprint servers. Observational and interventional studies that evaluated health literacy related to the novel COVID-19, severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS) were included. Items used in health literacy instruments were grouped under the themes of knowledge, attitudes and practices. Determinants of health literacy were grouped into five domains: sociodemographic, medical, psychological/psychiatric, health systems-related and others. RESULTS: Of the 2,065 articles screened, 70 articles were included. Of these, 21, 17 and 32 studies evaluated health literacy related to COVID-19, SARS and MERS, respectively. The rates of low pandemic health literacy ranged from 4.3% to 57.9% among medical-related populations and from 4.0% to 82.5% among nonmedical populations. Knowledge about the symptoms and transmission of infection, worry about infection, and practices related to mask usage and hand hygiene were most frequently evaluated. Sociodemographic determinants of health literacy were most frequently studied, among which higher education level, older age and female gender were found to be associated with better health literacy. No studies evaluated the outcomes associated with health literacy. CONCLUSION The level of pandemic-related health literacy is suboptimal. Healthcare administrators need to be aware of health literacy determinants when formulating policies in pandemics.
Humans ; Health Literacy ; COVID-19/epidemiology* ; Severe Acute Respiratory Syndrome/epidemiology* ; Health Knowledge, Attitudes, Practice ; Pandemics ; SARS-CoV-2 ; Coronavirus Infections/epidemiology* ; Middle East Respiratory Syndrome Coronavirus ; Female ; Male