Background: Machine learning (ML) is a type of artificial intelligence strategy. Its algorithms are used on big data sets to see patterns, learn from their results, and perform tasks autonomously without being instructed on how to address problems. New diseases like COVID-19 provide important data for ML. Therefore, all relevant parameters should be explicitly quantified and modeled. Objective: The purpose of this study was to determine (1) the overall preclinical characteristics, (2) the cumulative cutoff values and risk ratios (RRs), and (3) the factors associated with COVID-19 severity in unidimensional and multidimensional analyses involving 2173 SARS-CoV-2 patients. Methods: The study population consisted of 2173 patients (1587 mild status [mild group] and asymptomatic patients, 377 moderate status patients [moderate group], and 209 severe status patients [severe group]). The status of the patients was recorded from September 2021 to March 2022. Two correlation tests, relative risk, and RR were used to eliminate unbalanced parameters and select the most remarkable parameters. The independent methods of hierarchical cluster analysis and k-means were used to classify parameters according to their r values. Finally, network analysis provided a 3-dimensional view of the results. Results: COVID-19 severity was significantly correlated with age (mild-moderate group: RR 4.19, 95% CI 3.58-4.95; P<.001), scoring index of chest x-ray (mild-moderate group: RR 3.29, 95% CI 2.76-3.92; P<.001; moderate-severe group: RR 3.03, 95% CI 2.4023-3.8314; P<.001), percentage of neutrophils (mild-moderate group: RR 3.18, 95% CI 2.73-3.70; P<.001; moderate-severe group: RR 3.32, 95% CI 2.6480-4.1529; P<.001), quantity of neutrophils (moderate-severe group: RR 3.15, 95% CI 2.6153-3.8025; P<.001), albumin (moderate-severe group: RR 0.46, 95% CI 0.3650-0.5752; P<.001), C-reactive protein (mild-moderate group: RR 3.4, 95% CI 2.91-3.97; P<.001), and ratio of lymphocytes (moderate-severe group: RR 0.34, 95% CI 0.2743-0.4210; P<.001). Significant inversion of correlations among the severity groups is important. Alanine transaminase and leucocytes showed a significant negative correlation (r=−1; P<.001) in the mild group and a significant positive correlation in the moderate group (r=1; P<.001). Transferrin and anion Cl showed a significant positive correlation (r=1; P<.001) in the mild group and a significant negative correlation in the moderate group (r=−0.59; P<.001). The clustering and network analysis showed that in the mild-moderate group, the closest neighbors of COVID-19 severity were ferritin and age. C-reactive protein, scoring index of chest x-ray, albumin, and lactate dehydrogenase were the next closest neighbors of these 3 factors. In the moderate-severe group, the closest neighbors of COVID-19 severity were ferritin, fibrinogen, albumin, quantity of lymphocytes, scoring index of chest x-ray, white blood cell count, lactate dehydrogenase, and quantity of neutrophils. Conclusions: This multidimensional study in Vietnam showed possible correlations between several elements and COVID-19 severity to provide clinical reference markers for surveillance and diagnostic management.

Background: Intellectual disability (ID) is a heterogeneous condition caused by diverse genetic factors, including single-nucleotide variants (SNVs) and copy number variants (CNVs). Whole-exome sequencing (WES) and clinical exome sequencing (CES) have become essential tools for identifying pathogenic variants; however, their relative diagnostic performance in ID has not been fully characterized. Methods: Children diagnosed with ID or related neurodevelopmental disorders underwent WES or CES. Identified variants were classified according to ACMG/AMP and ClinGen guidelines, with segregation analysis performed when parental samples were available. Diagnostic yields were compared across demographic, prenatal, and phenotypic subgroups. A multidimensional semi-quantitative scoring system encompassing 15 clinical domains (e.g., age at onset, neuro-motor function, seizures, MRI findings, vision, and dysmorphic features) was developed. Z-scores were calculated for each parameter, followed by hierarchical cluster analysis (HCA) and correlation modeling to define genotype–phenotype associations and pathway-level clustering. Results: A broad spectrum of pathogenic and likely pathogenic variants across multiple genes and biological pathways was identified in our study. CNV-associated cases frequently exhibited prenatal anomalies or multisystem phenotypes associated with large chromosomal rearrangements. Monogenic variants and their corresponding phenotypic profiles were identified through clinical exome sequencing (CES) and whole-exome sequencing (WES). Phenotypic HCA based on Z-scores revealed three major biological groups of patients with coherent genotype–phenotype relationships: Group 1, severe multisystem neurodevelopmental disorders dominated by transcriptional and RNA-processing genes (POLR1C, TCF4, HNRNPU, NIPBL, ACTG1); Group 2, intermediate epileptic and metabolic forms associated with ion-channel and excitability-related genes (SCN2A, PAH, IQSEC2, GNPAT); and Group 3, milder or focal neurodevelopmental phenotypes involving myelination and signaling-related genes (NKX6-2, PLP1, PGAP3, SMAD6, ATP1A3). Gene distribution significantly differed among these biological categories (χ² = 54.566, df = 34, p = 0.0141), confirming non-random, biologically consistent grouping. Higher Z-scores correlated with earlier onset and greater neurological severity, underscoring the clinical relevance of the multidimensional analytical framework. Conclusions: This study highlights the genetic complexity and clinical heterogeneity of intellectual disability and demonstrates the superior diagnostic resolution of WES and CES. Integrating multidimensional phenotypic profiling with genomic analysis enhances genotype–phenotype integration and enables data-driven phenotype stratification and pathway-based re-analysis. This combined diagnostic and analytical framework offers a more comprehensive approach to diagnosing monogenic ID and provides a foundation for future predictive and functional studies.

Background: The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary disease that causes stroke and other neurological symptoms. Objective: We aimed to identify the variants of NOTCH3 and thrombophilia genes, and their complex interactions with other factors. Methods: We conducted a hierarchical cluster analysis (HCA) on the data of 100 patients diagnosed with ischemic stroke. The variants of NOTCH3 and thrombophilia genes were identified by polymerase chain reaction with confronting 2-pair primers and real-time polymerase chain reaction. The overall preclinical characteristics, cumulative cutpoint values, and factors associated with these somatic mutations were analyzed in unidimensional and multidimensional scaling models. Results: We identified the following optimal cutpoints: creatinine, 83.67 (SD 9.19) µmol/L; age, 54 (SD 5) years; prothrombin (PT) time, 13.25 (SD 0.17) seconds; and international normalized ratio (INR), 1.02 (SD 0.03). Using the Nagelkerke method, cutpoint 50% values of the Glasgow Coma Scale score; modified Rankin scale score; and National Institutes of Health Stroke Scale scores at admission, after 24 hours, and at discharge were 12.77, 2.86 (SD 1.21), 9.83 (SD 2.85), 7.29 (SD 2.04), and 6.85 (SD 2.90), respectively. Conclusions: The variants of MTHFR (C677T and A1298C) and NOTCH3 p.R544C may influence the stroke severity under specific conditions of PT, creatinine, INR, and BMI, with risk ratios of 4.8 (95% CI 1.53-15.04) and 3.13 (95% CI 1.60-6.11), respectively (Pfisher<.05). It is interesting that although there are many genes linked to increased atrial fibrillation risk, not all of them are associated with ischemic stroke risk. With the detection of stroke risk loci, more information can be gained on their impacts and interconnections, especially in young patients.

Background: Hepatitis B virus (HBV) can be transmitted from mother to child either through transplacental infection or via blood-to-blood contact during or immediately after delivery. Early and accurate risk assessments are essential for guiding clinical decisions and implementing effective preventive measures. Data mining techniques are powerful tools for identifying key predictors in medical diagnostics. Objective: This study aims to develop a robust predictive model for mother-to-child transmission (MTCT) of HBV using decision tree algorithms, specifically Iterative Dichotomiser 3 (ID3) and classification and regression trees (CART). The study identifies clinically and paraclinically relevant predictors, particularly hepatitis B e antigen (HBeAg) status and peripheral blood mononuclear cell (PBMC) concentration, for effective risk stratification and prevention. Additionally, we will assess the model’s reliability and generalizability through cross-validation with various training-test split ratios, aiming to enhance its applicability in clinical settings and inform improved preventive strategies against HBV MTCT. Methods: This study used decision tree algorithms—ID3 and CART—on a data set of 60 hepatitis B surface antigen (HBsAg)–positive pregnant women. Samples were collected either before or at the time of delivery, enabling the inclusion of patients who were undiagnosed or had limited access to treatment. We analyzed both clinical and paraclinical parameters, with a particular focus on HBeAg status and PBMC concentration. Additional biochemical markers were evaluated for their potential contributory or inhibitory effects on MTCT risk. The predictive models were validated using multiple training-test split ratios to ensure robustness and generalizability. Results: Our analysis showed that 20 out of 48 (based on a split ratio of 0.8 from a total of 60 cases, 42%) to 27 out of 57 (based on a split ratio of 0.95 from a total of 60 cases, 47%) training cases with HBeAg-positive status were associated with a significant risk of MTCT of HBV (χ28=21.16, P=.007, df=8). Among HBeAg-negative women, those with PBMC concentrations ≥8 × 106 cells/mL exhibited a low risk of MTCT, whereas individuals with PBMC concentrations <8 × 106 cells/mL demonstrated a negligible risk. Across all training-test split ratios, the decision tree models consistently identified HBeAg status and PBMC concentration as the most influential predictors, underscoring their robustness and critical role in MTCT risk stratification. Conclusions: This study demonstrates that decision tree models are effective tools for stratifying the risk of MTCT of HBV by integrating key clinical and paraclinical markers. Among these, HBeAg status and PBMC concentration emerged as the most critical predictors. While the analysis focused on untreated patients, it provides a strong foundation for future investigations involving treated populations. These findings offer actionable insights to support the development of more targeted and effective HBV MTCT prevention strategies.

BACKGROUND&AIMS: Hepatitis B virus (HBV) infection remains a major public health problem. The interaction between HBV and the host inflammatory response is an important factor contributing to liver damage and disease development. We compared the correlation between the subclinical index and PBMCs concentration in two groups of pregnant women (HBsAg positive), which are different in HBV DNA concentration in Vietnam. METHODS: The Hierarchical cluster analysis (HCA) was run with 20 different clustering methods on data collected from 80 Vietnamese pregnant women and their babies (60/80 cord blood). RESULTS: In the high viral load group (HBV DNA ≥ 5x10^7 copies/ml), a strong correlation between CBMCs with serum maternal Haemoglobin concentration and maternal platelet and maternal ALT. Their R values are: -0.88, 0.82, and 0.84 with p=8.97E-03, 2.41E-02 and 1.75E-01, respectively. CONCLUSIONS: We found a significant correlation shift of subclinical index between the two groups, which may be important in diagnosing pregnant women with chronic hepatitis B virus infection.