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.

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.

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.

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

Background: Thalassemia is a common inherited hemolytic disorder characterized by the absence or reduction of one of the globin chains. Beta thalassemia major generally has oral cavity manifestations. Patients with beta thalassemia major often require routine blood transfusion. However, this treatment has the side effect of accumulating iron in the salivary glands, which increase the risk of dental caries, gingivitis, and secondary infection from Candida albicans. Objective: The aim of this review is to explain the relationship of salivary iron levels and the effects of iron accumulation on dental caries, gingivitis, and Candida albicans infection. Methods: A comprehensive search was performed on PubMed, Scopus, and Google Scholar databases using the keywords beta thalassemia major, iron, dental caries, gingivitis, Candida albicans. Results: Iron is an essential micronutrient needed by Candida albicans for its growth and virulence. Blood transfusion in patients with beta thalassemia major can lead to a buildup of iron in the salivary glands and trigger the formation of non-transferrin bound iron (NTBI). NTBI can circulate in plasma and form a reactive oxygen species (ROS) that stimulate the formation of biofilms and increase dental caries. ROS may affect several genes associated with the inflammatory process and increase the incidence of gingivitis. It can also reduce salivary secretion in patients with thalassemia-β major that cause dysbiosis, which triggers an overgrowth of Candida albicans. Conclusion The excess iron in patients with beta thalassemia major increase the risk of dental caries, gingivitis, and Candida albicans infection.
beta thalassemia major ; iron ; dental caries ; gingivitis ; Candida albicans

Background: Hemoglobinopathies as a group is one of the most common conditions confirmed through the newborn screening (NBS) program of the Philippines. This led to the increased participation of pediatric hematologists in the NBS program. Objective: The aim of the study was to assess newborn screening acceptance and knowledge of pediatric hematologists using an online questionnaire. Method: Members of the Philippine Society of Pediatric Hematology (PSPH), who are practicing pediatric hematologists in the Philippines, were invited to answer an online questionnaire. Results: Sixty members of the PSPH (65.2%) answered the survey. All the respondents are familiar with the newborn screening program. Fifty-seven respondents (95 %) have already managed a case of hemoglobinopathy identified through the newborn screening program. Differences in the approach to management and level of confidence with diagnostic test result interpretation have been noted. General themes of their concerns include being unaware of the protocol, concerns on delays in confirmatory tests, request for guidelines on follow-up, and incongruence of results with clinical picture. Conclusion The information collected may be used to develop strategies to better equip our pediatric hematologists and assist the PSPH standardize management protocols for hemoglobinopathies.
hemoglobinopathies ; newborn screening

OBJECTIVE: We aimed to assess the feasibility and superiority of machine learning (ML) methods to predict the risk of Major Adverse Cardiovascular Events (MACEs) in chest pain patients with NSTE-ACS. METHODS: Enrolled chest pain patients were from two centers, Beijing Anzhen Emergency Chest Pain Center Beijing Bo'ai Hospital, China Rehabilitation Research Center. Five classifiers were used to develop ML models. Accuracy, Precision, Recall, F-Measure and AUC were used to assess the model performance and prediction effect compared with HEART risk scoring system. Ultimately, ML model constructed by Naïve Bayes was employed to predict the occurrence of MACEs. RESULTS: According to learning metrics, ML models constructed by different classifiers were superior over HEART (History, ECG, Age, Risk factors, & Troponin) scoring system when predicting acute myocardial infarction (AMI) and all-cause death. However, according to ROC curves and AUC, ML model constructed by different classifiers performed better than HEART scoring system only in prediction for AMI. Among the five ML algorithms, Linear support vector machine (SVC), Naïve Bayes and Logistic regression classifiers stood out with all Accuracy, Precision, Recall and F-Measure from 0.8 to 1.0 for predicting any event, AMI, revascularization and all-cause death ( vs. HEART ≤ 0.78), with AUC from 0.88 to 0.98 for predicting any event, AMI and revascularization ( vs. HEART ≤ 0.85). ML model developed by Naïve Bayes predicted that suspected acute coronary syndrome (ACS), abnormal electrocardiogram (ECG), elevated hs-cTn I, sex and smoking were risk factors of MACEs. CONCLUSION Compared with HEART risk scoring system, the superiority of ML method was demonstrated when employing Linear SVC classifier, Naïve Bayes and Logistic. ML method could be a promising method to predict MACEs in chest pain patients with NSTE-ACS.
Humans ; Acute Coronary Syndrome/epidemiology* ; Bayes Theorem ; Feasibility Studies ; Risk Assessment/methods* ; Chest Pain/etiology* ; Myocardial Infarction/diagnosis*

A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.
Infant, Newborn ; Male ; Humans ; Female ; Pregnancy ; Hydrops Fetalis/genetics* ; N-Acetylneuraminic Acid ; Placenta/pathology* ; Ascites

OBJECTIVE: To investigate the possible causes of abnormal hemoglobin electrophoresis results. METHODS: The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed. RESULTS: The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands. Among the 486 patients, 246 patients were thalassemia gene positive (the positive rate was 50.62%), including 29 cases of α thalassemia, 208 cases of β thalassemia and 9 cases of αβ thalassemia. Among the patients with elevated HbA2, 68.67% were detected β thalassemia, 3.00% αβ thalassemia, 9.33% were suspected to be caused by macrocytosis, 6.33% by thyroid dysfunction, and 12.67% by uncertainty of the method. Among the patients with reduced HbA2, 21.48% were detected α thalassemia, 60.00% iron deficiency anemia, 8.15% were suspected to be caused by thyroid dysfunction, and 10.37% by uncertainty of the method. Among the patients with elevated F alone, the results of thalassemia gene detection were negative, 40.91% of them were suspected to be caused by macrocytosis, 27.27% by hereditary persistence of fetal hemoglobin, 29.55% by special physiological condition of pregnant women, and 2.27% by hyperthyroidism. Abnormal hemoglobin bands were detected in 7 patients, including 4 cases of hemoglobin D, 2 cases of hemoglobin E, and 1 case of hemoglobin J. CONCLUSION Thalassemia, iron deficiency anemia, macrocytosis such as megaloblastic anemia and non-severe aplastic anemia, thyroid dysfunction, hereditary persistence of fetal hemoglobin, abnormal hemoglobin diseases, the uncertainty of the method are all important causes of abnormal hemoglobin electrophoresis results. In clinical work, the patient's indicators should be comprehensively analyzed to determine the possible cause.
Humans ; Female ; Pregnancy ; beta-Thalassemia/genetics* ; Anemia, Iron-Deficiency ; Fetal Hemoglobin/analysis* ; alpha-Thalassemia ; Blood Protein Electrophoresis ; Hemoglobin A2/analysis* ; Hemoglobins, Abnormal/analysis*

Humans ; Hemoglobinopathies ; Hemoglobins, Abnormal/genetics*

Humans ; Hematopoietic Stem Cell Transplantation ; Hemoglobinopathies/therapy* ; Hemoglobins, Abnormal

OBJECTIVE: To study the molecular epidemiology of thalassemia in Jiaxing area of Zhejiang province and provide a basis for prenatal diagnosis, genetic counseling and prevention and control of birth defects. METHODS: A total of 24 003 pregnant women who presented at the Jiaxing Maternal and Child Health Care Hospital from April 2017 to September 2021 were enrolled. Capillary hemoglobin electrophoresis in combination with routine blood test were used for primary screening for carriers of thalassemia-associated mutations, and those with positive results were subjected to fluorescence quantitative PCR assay. Prenatal diagnosis was provided for couples with a risk of giving birth to children with intermediate or severe thalassemia. RESULTS: Among the 24 003 pregnant women, 1 211 cases were suspected as carriers of thalassemia-associated mutations, among whom 443 (36.58%) were confirmed by genetic testing. Among these, carriers of α-, β- and α-complex β-globin gene mutations have accounted for 27.31% (121/443), 70.65% (313/443) and 2.04% (9/443), respectively. The result of prenatal diagnosis for an at-risk couple was --SEA/αCSα, and the fetus was predicted to have intermediate or severe thalassemia. Termination of the pregnancy was recommended. CONCLUSION Hemoglobin electrophoresis combined with routine blood test during pregnancy may be used as a preliminary screening measure for carriers of thalassemia-associated variants. Combined with genetic testing, this will be of great significance for the control of thalassemia in this region.
Female ; Humans ; Pregnancy ; Electrophoresis, Capillary ; Genetic Counseling ; Genetic Testing ; Mutation ; Prenatal Diagnosis ; Thalassemia/genetics*

OBJECTIVE: To explore the carrier rate, genotype and phenotype of α-thalassemia fusion gene in Huadu district of Guangzhou, Guangdong province of China, and provide data reference for the prevention and control of thalassemia. METHODS: A total of 10 769 samples who were screened for thalassemia in Maternal and Child Health Hospital of Huadu District from July 2019 to November 2020 were analyzed retrospectively. Blood cell analysis and hemoglobin (Hb) electrophoresis were performed. Thalassemia genes were analyzed by gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB). RESULTS: A total of 9 cases with α-thalassemia fusion gene were detected in 10 769 samples (0.08%). There were 7 cases with fusion gene heterozygote, 1 case with compound of α-thalassemia fusion gene and Hb G-Honolulu, 1 case with compound of α-thalassemia fusion gene and Hb QS. The MCV results of 4 samples of blood cell analysis were within the reference range, the Hb A2 value of 1 case was decreased, and there were no other abnormalities found. CONCLUSION The α-thalassemia fusion gene is common in Huadu district of Guangzhou, and heterozygotes are more common, and current screening methods easily lead to misdiagnosis.
Humans ; alpha-Thalassemia/genetics* ; Retrospective Studies ; beta-Thalassemia/genetics* ; Genotype ; Phenotype ; Heterozygote ; China ; Mutation