BACKGROUND:Cancer of unknown primary (CUP) is aggressive, with limited options and poor prognosis. Mismatch repair-deficient (dMMR) CUP is rare, and reports of its response to immunotherapy are scarce. CASE PRESENTATION:A 52-year-old man presented with extensive liver metastases and severe hepatic dysfunction (bilirubin 14 mg/dL, ECOG 3). The primary site could not be identified; biopsy showed poorly differentiated carcinoma. Immunohistochemistry showed loss of MSH2, MLH1, and PMS2 (dMMR). Pembrolizumab produced rapid improvement, with bilirubin normalizing within three months and complete response by six months, sustained beyond 30 months. CONCLUSIONS:Pembrolizumab can achieve durable responses in dMMR CUP despite advanced disease and poor performance.
BACKGROUND:The aim of this study was to determine the predictive value of fibrinogen-to-albumin ratio (FAR) and blood urea nitrogen-to-albumin ratio (BAR) in pregnancies complicated by preeclampsia in the first trimester. Furthermore, the study evaluated their relationship with disease severity and composite perinatal adverse outcomes (CAPO). METHODS:The present retrospective cross-sectional study comprised 144 pregnant women with gestational ages between 20 and 39 weeks, who were divided into three groups: mild preeclampsia (n = 48), severe preeclampsia (n = 48), and a normotensive healthy control group (n = 48). The first trimester blood samples were utilized to calculate the FAR and BAR values. Comparisons were made between the groups, and the relationship of these indices with disease severity and CAPO was evaluated. RESULTS:FAR and BAR values were considerably elevated in both the mild and severe preeclampsia cohorts in comparison to the control group (p < 0.001). However, there were no statistically significant differences in FAR and BAR values between the mild and severe preeclampsia subgroups (p > 0.05). ROC analysis yielded moderate to high diagnostic performance for both markers in the detection of preeclampsia. Nevertheless, both FAR and BAR exhibited a lack of statistical significance in relation to the occurrence of composite perinatal adverse outcomes (CAPO), with p > 0.05. CONCLUSIONS:FAR and BAR have been identified as biomarkers that may facilitate the timely diagnosis of preeclampsia in the first trimester of pregnancy. However, since these markers do not demonstrate significant benefits in predicting the severity of the disease or adverse perinatal outcomes, further research is required in larger prospective cohorts.
BACKGROUND:Glucose-6-phosphate dehydrogenase deficiency (G6PDD) and sickle cell disease (SCD) both result in hemolysis associated with anemia. Studies on the hematological effects of SCD and G6PDD co-inheritance are limited, with conflicting results. The objective of the study was to compare the hematological parameters and biochemical markers of hemolysis viz., lactate dehydrogenase (LDH) and unconjugated bilirubin (UBR), in patients with SCD to patients with SCD/G6PDD co-inheritance. METHODS:A total of 214 patients with SCD including both homozygous (HbSS) and heterozygous (HbAS) variants, with or without concomitant G6PDD were identified over a 14-year period at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH) in South Africa. SCD was diagnosed with high-performance liquid chromatography (HPLC), while G6PD status was determined with G6PD spot testing. The full blood count (FBC) parameters, along with the UBR and LDH levels, were recorded. RESULTS:The median ages at diagnosis were 4.5 and 20 years for HBSS (with and without G6PDD) and HBAS (with and without G6PDD), respectively. The FBC parameters viz., red blood cell count (RCC), hematocrit (Hct), mean cell hemoglobin (MCH), mean cell hemoglobin concentration (MCHC) and mean cell volume (MCV), as well as UBR levels, showed no significant differences between patients with HbSS alone and those with HbSS/ G6PDD. However, patients with HbAS/G6PDD had significantly higher mean UBR levels (p < 0.05) in comparison to those with HbAS alone, although the FBC parameters showed no statistically significant differences between these groups. CONCLUSIONS:Co-inheritance of G6PDD with HbAS does not result in anemia, but elevated biochemical markers of hemolysis suggest ongoing hemolysis. This raises concern about potential complications associated with chronic hemolysis, beyond anemia.
BACKGROUND:Sarcomatoid carcinoma of the pancreas (SCP) is an exceptionally rare variant of pancreatic ductal adenocarcinoma. A detailed evaluation of its clinical manifestations, laboratory findings, and imaging characteristics may contribute to earlier detection and intervention, thereby improving survival outcomes and quality of life. METHODS:We retrospectively reviewed the clinical presentation, laboratory investigations, and imaging findings of a patient with pathologically confirmed SCP. In addition, relevant literature was analyzed to summarize strategies for early screening and diagnosis. RESULTS:A 78-year-old female presented with persistent dull epigastric pain accompanied by nausea and vomiting. Laboratory evaluation revealed elevated CA19-9 levels. Imaging demonstrated a mass in the pancreatic body and tail. Dynamic contrast-enhanced CT showed moderate heterogeneous enhancement in the arterial phase with progressive enhancement during the portal venous phase. Dynamic contrast-enhanced MRI revealed rim enhancement. CONCLUSIONS:The integration of serum CA19-9 measurement with characteristic imaging features may facilitate the early identification of SCP.
BACKGROUND:Similar to how salivary cortisol reflects serum cortisol as a stress biomarker, saliva by its easy, non-invasive collection, holds promise for mucosal antibody testing to assess systemic humoral immunity. In this study, we aimed to determine the prevalence of SARS-CoV-2 antibodies in saliva during the COVID-19 pandemic. METHODS:Between February and December 2022, paired saliva and serum specimens were collected twice per participant with the history of infection. SARS-CoV-2 antibodies were measured by Roche Elecsys anti-N and Abbott anti-S1-RBD assays. Cortisol was also quantified in serum-saliva paired samples using Elecsys Cortisol II. Saliva antibody results with manufacturer's serum cutoff were compared with those of the serum. RESULTS:Out of the 166 participants enrolled, the first and second visits showed serum anti-S1-RBD Ab in 162 (97.6%) and anti-N Ab in 79 (47.5%) and 97 (58.4%) participants. At the first and second visits, 14 (8.4%) and 13 (7.8%) participants had salivary anti-S1-RBD Ab, while 4 (2.4%) and 5 (3.0%) participants had anti-N Ab. Agreement between serum and saliva was slight for anti-S1-RBD (κ = 0.004) and poor for anti-N (κ < 0). The mean serum cortisol was 7.52 μg/dL (visit 1) and 7.97 μg/dL (visit 2) versus 0.19 μg/dL and 0.18 μg/dL in saliva. Saliva cortisol levels were ~ 95.5 - 97.6% lower than serum. CONCLUSIONS:Salivary SARS-CoV-2 antibody levels and serologic results are poorly concordant, preventing saliva as a direct substitute without assay-specific cutoffs. Salivary cortisol correlates predictably with serum levels but consistently underestimates them. Further work is needed to establish standardized saliva thresholds for both antibodies and cortisol.
BACKGROUND:The aim of this study was to investigate the association between Th17/Treg imbalance and macular blood flow abnormalities in patients with thyroid-associated ophthalmopathy (TAO). METHODS:A prospective cohort study was designed to include 71 patients with TAO and 50 healthy controls. Macular blood flow measurements were quantified by optical coherence tomography angiography, including foveal vessel density (FVD) and foveal perfusion density (FPD) in 1 mm from the central fovea, macular vessel density (MVD) and macular perfusion density (MPD) in 6 mm from the central fovea, and macular foveal avascular zone (FAZ) was also measured. Peripheral blood Th17/Treg ratio was measured by flow cytometry and its association with blood flow measurements was assessed by multiple linear regression modeling, correcting for confounding factors such as age and gender. RESULTS:MVD (16.38 ± 2.83 vs. 18.91 ± 2.20, p < 0.001) and MPD (44.5% vs. 48.1%, p < 0.001) in the TAO group were significantly lower than those of the control group. Th17/Treg ratio showed a significant positive correlation with MPD (multifactorial β = 0.01, p = 0.002) and negatively correlated with FAZ (multifactorial β = -0.36, p = 0.018). No significant correlations were found for other indicators (FVD, FPD, and MVD) and confounders (TAO activity, gender, and age). CONCLUSIONS:Th17/Treg imbalance is directly involved in microcirculatory disorders in TAO by decreasing MPD and enlarging macular FAZ, suggesting that immunomodulation may be a therapeutic target to improve macular blood flow abnormalities in TAO patients.
BACKGROUND:The aspartate transaminase to alanine aminotransferase ratio (AST/ALT) has been proposed as a potential biomarker for metabolic dysfunction, but its association with type 2 diabetes mellitus (T2DM) remains controversial. This study aimed to investigate the relationship between AST/ALT ratio and risk of T2DM using a nationally representative sample. METHODS:We analyzed data from the National Health and Nutrition Examination Survey (NHANES) between 1999 and 2004, collecting details on their T2DM status, AST/ALT ratio, and several other essential variables. There were 12,527 participants, with 13.9% (1,746/12,527) who experienced T2DM. Logistic regression, curve fitting, interaction effects were utilized to investigate the association between AST/ALT ratio and T2DM. RESULTS:There was a substantial difference in AST/ALT ratios between the groups, with T2DM patients exhibiting significantly lower values (p < 0.001). Logistic regression analysis revealed a negative association between AST/ ALT ratio and T2DM, even after adjusting for the confounding variables (odds ratio: 0.28, 95% confidence interval: 0.25 - 0.32, p < 0.001). In addition, curve fitting after adjusting for all the confounding variables showed that there was a linear relationship between AST/ALT ratio and T2DM (p for non-linearity = 0.107). AST/ALT ratio was negatively correlated with T2DM. CONCLUSIONS:The AST/ALT ratio was associated with a lower risk of T2DM in a linear pattern, suggesting its potential role as a clinical indicator of metabolic risk. Further prospective studies are needed to clarify causality.
BACKGROUND:Recent studies suggest that Cutibacterium acnes may be involved in prostate carcinogenesis. The po-tential association between Bacteroides fragilis and prostate cancer (PC) is still under investigation. This study aimed to determine the levels of C. acnes and B. fragilis in prostate biopsies from patients with PC and healthy controls (HCs) and to evaluate the possible roles of these bacteria in the etiopathogenesis of PC. METHODS:This age-matched case-control study was conducted between 2020 and 2022. Prostate biopsies were collected from 60 patients with PC and 60 HCs divided in two age groups of 55 - 65 years and 66 - 75 years, respectively. C. acnes and B. fragilis levels were determined using real-time quantitative polymerase chain reaction (qPCR). RESULTS:C. acnes was detected in 58 (96.6%) biopsies from PC patients and in 39 (65%) from HCs (p < 0.001), B. fragilis was detected in 9 (15%) biopsies from PC patients and in 4 (6.7%) from HCs (p = 0.142). Compared with HCs, C. acnes abundance was significantly higher in PC patients aged 55 - 65 years (p = 0.002). No significant difference in B. fragilis abundance was found between the two groups in either age category (p = 0.211). CONCLUSIONS:Our findings suggest that C. acnes may contribute to the etiopathogenesis of PC, particularly in patients aged 55 - 65 years. In contrast, our data do not support a clear association between B. fragilis and PC. Larger, prospective, molecular-based studies are needed to clarify the potential role of these bacteria in prostate carcinogenesis.
BACKGROUND:Multiple myeloma (MM) is a plasma cell malignancy characterized by monoclonal protein secretion. Excessive immunoglobulin production increases blood viscosity, impairing serum separation and complicating laboratory analyses. We present a case of a 54-year-old male MM patient with hyperviscous samples, describing the laboratory solutions applied. METHODS:To extract a sufficient liquid compartment from the initial sample, several approaches were planned: repeated or extended centrifugation using serum separator tubes (SST), collection in heparinized tubes, use of plain tubes with dilution at 1/2 and 1/4 ratios, and mechanical separator tube (MST) usage. RESULTS:Repeated or prolonged centrifugation in SSTs did not produce sufficient serum. Blood collected in a hep-arinized tube also failed to yield adequate plasma. Sampling into a plain tube with dilution enabled sufficient serum collection, and MST provided the required plasma volume. MST test results were consistent with the patient's clinical status, whereas increasing the dilution ratio in plain tubes led to greater percentage differences compared with MST results. CONCLUSIONS:MST provided optimal and clinically reliable results. If MST is unavailable, we recommend diluting hyperviscous samples in plain tubes, beginning with a 1/2 ratio.
BACKGROUND:Glycometabolism has been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), yet the precise molecular mechanisms underlying this association remain poorly understood. The identification of reliable biomarkers for ALS diagnosis represents a critical unmet need in clinical practice, as early detection and intervention could significantly improve patient outcomes. METHODS:We employed a comprehensive analytical approach combining two-sample Mendelian randomization analysis to investigate the causal relationship between blood glucose levels and ALS. Additionally, we integrated differential expression analysis, multiple machine learning algorithms, and correlation analyses to identify potential diagnostic biomarkers for ALS. The machine learning framework utilized gradient boosting tree methodology to construct predictive models, with performance evaluation conducted through cross-validation procedures. RESULTS:Mendelian randomization analysis demonstrated a significant negative causal relationship between blood glucose levels and ALS risk. Through bioinformatic analysis and machine learning approaches, we successfully identified candidate genes and constructed a high-performance predictive model using gradient boosting tree methodology, achieving an average area under the curve (AUC) of 0.8782 in cross-validation. Validation studies utilizing both bulk and single-cell RNA sequencing datasets revealed that COL5A1 and VCAN genes play significant roles in ALS pathogenesis, likely through their involvement in glycolytic pathways. CONCLUSIONS:Our findings provide novel insights into the molecular mechanisms linking glycometabolism and ALS, while identifying potential diagnostic biomarkers for the disease. The identified genes, COL5A1 and VCAN, represent promising targets for further investigation in ALS pathogenesis. However, the clinical translation of these findings requires validation through additional datasets and prospective clinical trials to establish their diagnostic utility and therapeutic potential.
BACKGROUND:Hepatitis B core antibody (Anti-HBc) is an antibody that appears earlier after hepatitis B virus (HBV) infection and disappears the latest after recovery of hepatitis B. Detection of anti-HBc can effectively determine the infection status of hepatitis B. METHODS:This report describes a rare serological pattern observed in a patient with chronic hepatitis B virus infection during routine testing. The patient had both high positive results for hepatitis B surface antigen (HBsAg) and e antigen (HBeAg), and a high level of HBV DNA. However, the initial test result of anti-HBc using a Wantai instrument was negative. By using different testing platforms and, combined with the patient's medical history, the cause of the false negative result of anti-HBc test was determined. RESULTS:After thorough examination from multiple aspects and rechecking on multiple platforms, it was found that different manufacturers' immunological detection systems (Wantai, Roche, Abbott) gave inconsistent results. On Wantai, anti-HBc was repeatedly measured as being highly negative, but the re-examination results on Roche and Abbott detection platforms were positive. This case highlights that in a specific immune activation state with high viral load, different detection methods may lead to discrepancies in the interpretation of weakly positive or borderline samples. CONCLUSIONS:When the anti-HBc of patients who have been or are currently infected with the hepatitis B virus is negative, laboratory workers and clinical doctors should be aware of this potential analytical discrepancy. We should adopt multiple methods for verification to analyze and review the test results, combined with the patient's clinical case data, in order to avoid incorrect diagnosis and treatment for the patients.
BACKGROUND:Therapy-related acute lymphoblastic leukemia (t-ALL) after multiple myeloma (MM) treatment is a rare complication linked to lenalidomide and autologous stem cell transplantation (ASCT). Diagnosing t-ALL vs. MM relapse is challenging when blasts show plasmablastic morphology. METHODS:An elderly male with IgA-λ MM, previously treated with double ASCT and lenalidomide, presented with fatigue and hematochezia. Pancytopenia was noted. Bone marrow showed 35.0% plasmablastic cells, raising concern for relapse. RESULTS:Flow cytometry confirmed CD34/TdT/CD19-positive B-ALL, not myeloma. Karyotype was normal; NGS revealed a DNMT3A mutation, typical of therapy-related leukemia. This supported t-B-ALL diagnosis. CONCLUSIONS:This case highlights a diagnostic pitfall where morphology misleads. Integrated lab analysis - especially flow cytometry - is essential to classify complex malignancies and guide therapy, underscoring therapy-related leukemogenesis in MM survivors.
BACKGROUND:Diverse quarantine measures against the coronavirus disease 2019 (COVID-19) pandemic have affected the distribution patterns of respiratory pathogens. This study analyzed changes in the incidence and distribution of major respiratory pathogens during the COVID-19 pandemic and after the endemic declaration. In addition, the study aimed to provide a basis for future community-centered infectious disease response strategies by identifying co-infection patterns and whether pathogens re-emerge after mitigation. METHODS:In this retrospective study, the results of 105,619 respiratory pathogen tests, including FilmArray® Respiratory Panel (BioFire Diagnostics) assay (FilmArray RP), influenza tests, and COVID-19 tests, were collected at a Korean university hospital during the COVID-19 pandemic (Period I: March 2021 through April 2023) and endemic (Period II: May 2023 through February 2025). The changes in the distribution of major pathogens, age and gender characteristics, seasonality, and co-infection patterns were compared between the two periods. RESULTS:The overall positivity rate for the FilmArray RP significantly increased from 64.4% in Period I to 71.1% in Period II (p < 0.001). In the age-specific analysis, age group 3 (4 months to 2 years) had the highest positivity rate in Period II (82.7%). Human rhinovirus/enterovirus was the most frequently detected pathogen, whereas respiratory syncytial virus cases increased in number, but decreased in proportion to all positive cases in Period II. The prevalence of adenoviruses and Mycoplasma pneumoniae has significantly increased since the pandemic. Human metapneumovirus has shifted its seasonality from autumn to summer and spring, whereas parainfluenza virus 3 has shifted from autumn to spring and summer. Among all positive cases, co-infections significantly increased to 17.6% and 22.3% during Periods I and II, respectively (p < 0.001). CONCLUSIONS:This study revealed significant changes in the incidence, seasonality, age characteristics, and co-infection patterns of respiratory pathogens after the mitigation of COVID-19. These changes result from the re-emergence of pathogens that were suppressed during the pandemic, immune vaccination, and the resumption of social activities, suggesting the need to establish an age- and pathogen-specific surveillance system for future infec-tious disease responses.
BACKGROUND:Bronchiolitis obliterans syndrome (BOS), a severe complication following allogeneic hematopoietic stem cell transplantation (allo-HSCT), presents as chronic graft-versus-host disease characterized by inflammation and fibrosis of the small airway epithelium. This progressive fibrosis obstructs bronchiolar airways, leading to respiratory distress in patients. Due to the lack of effective treatments, a deeper understanding of the underlying mechanisms is crucial. This study explored the molecular mechanisms underlying the abnormal glycosylation regulation in BOS, aiming to provide new insights for early diagnosis and treatment of this disease. METHODS:Bronchoalveolar lavage fluid (BALF) was collected from patients with and without BOS following allo-HSCT. N-glycans from the BALF were enriched using a solid-phase extraction method. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF/TOF-MS) was used to detect N-glycosylation characteristics in the BALF of BOS patients. This phenomenon was validated using a graft-versus-host disease (GVHD) mouse model. The impact of MGAT3 knockdown on the biological functions of airway epithelial cells (BEAS-2B) was then examined using lentivirus transfection. The molecular mechanism by which the loss of MGAT3 enhances TGF-β signaling was explored using western blotting, enzyme-linked immunosorbent assay (ELISA), and immunofluorescence (IF). RESULTS:Our study investigated N-glycosylation changes in BALF of BOS patients and identified a strong correlation between the loss of bisecting-GlcNAc N-glycans and BOS progression. We found a novel mechanism where MGAT3, the enzyme synthesizing bisecting-GlcNAc structures, critically regulates TGF-β signaling. MGAT3 and bisecting-GlcNAc deficiency significantly enhance TGF-β signaling by increasing TGF-β storage through upregu-lation of latent TGF-β binding protein 1 (LTBP1) and by increasing the availability of TGF-β receptors. CONCLUSIONS:Our discovery highlights the crucial role of aberrant glycosylation in BOS progression and holds significant promise for developing novel biomarkers for early diagnosis, identifying new therapeutic targets, and ultimately improving the quality of life for BOS patients.
BACKGROUND:Artificial Intelligence (AI) has grown quickly in healthcare and has had a big effect on medical laboratory diagnostics, especially when it comes to diagnosing blood disorders. To figure out the pros and cons of using AI in hematology diagnostics, it is important to understand the perspective of medical laboratory workers instead of specialists toward AI use in hematology laboratory diagnostics. The goal of this study was to investigate what medical lab workers now know about AI and how they think it affects the accuracy of diagnostic hematology and patient outcomes. METHODS:Methods involved 113 participants, mostly laboratory technologists who filled out a standardized questionnaire as part of a quantitative exploratory research design. The data collection phase lasted 6 months, during which time-informed consent was sought and reminders were provided to boost response rates. Statistical tests were used including t-tests and regression analysis to determine the links between demographic factors and workers opinions on AI in hematological diagnoses. RESULTS:The primary findings of this study dwell within the role of job skill and gender influence on "attitude", specifically, the study found that most of the participants believe that their professional attitude to adoption of AI in diagnoses could make their job more accurate and faster. However, there were several concerns about the quality of data, how easy it will be to understand the model, and the moral implications. There were positive relationships between knowledge, attitudes, and practices linked to AI. The secondary outcomes showed that most of the participants were young, with 45.1% being between the ages of 30 and 39. In addition, 65.5% of them had bachelor's degree, which suggests that they were comfortable with technology. Some of the participants had less than ten years of work experience, while others had more than ten years. Statistical tests demonstrated that demographic characteristics are quite important in how medical laboratory workers think about AI. CONCLUSIONS:Medical laboratory workers believe that the use of AI in hematology diagnostics has its benefits, but they need more training and assistance to deal with their fears and create a space where human expertise and AI technologies can work together. By taking these views into account, healthcare organizations may better educate their staff for the changing role of AI in diagnostics, which will lead to improved patient outcomes and satisfaction.
BACKGROUND:Bilateral tubal pregnancy (BTP) is a rare and diagnostically challenging form of ectopic pregnancy. This report emphasizes the critical importance of serial beta-human chorionic gonadotropin (β-hCG) surveillance following conservative tubal surgery. METHODS:A 29-year-old patient underwent laparoscopic salpingostomy for a right tubal pregnancy. Serial β-hCG measurements were performed postoperatively to monitor trophoblastic activity. RESULTS:Instead of the expected decline, β-hCG levels rose postoperatively (from 809.29 mIU/mL to 942.47 mIU/mL by day 3). This abnormal trend prompted re-evaluation, leading to the identification of a contralateral tubal pregnancy via ultrasonography. Surgical intervention confirmed the diagnosis of BTP. Following the second procedure, β-hCG levels normalized within one month. CONCLUSIONS:Systematic postoperative β-hCG monitoring is essential for the early detection of persistent ectopic pregnancy and rare conditions like BTP. This case demonstrates that vigilant laboratory surveillance can trigger crucial clinical reassessment, thereby preventing diagnostic oversight and guiding effective management.
BACKGROUND:Accurate human immunodeficiency virus diagnosis is required to treat and prevent transmission. HIV western blot (MP-WB) has major drawbacks such as prolonged turnaround times, and high percentages of indeterminate results. To address these issues, the CDC in 2014 recommended the use of an immunological test capable of differentiating anti-HIV-1 antibodies from anti-HIV-2 antibodies for HIV diagnosis. The Geenius™ HIV 1/2 Confirmatory Assay/Bio-Rad is a rapid, single-use immunochromatographic test designed to confirm and differentiate HIV antibodies. METHODS:This study, conducted at the Central Virology Laboratory of the Rabat Specialty Hospital, Morocco, evaluated the performance of the Geenius test as an alternative to MP-WB for confirming HIV-1 diagnoses over 24 months. 116 samples were included, 113 patient samples with repeatedly reactive HIV screening test (HIV Combo Ag/Ab) and 3 external quality evaluation programs. Samples were tested by Geenius™ HIV-1/2 confirmatory assay and MP-WB. A nucleic acid amplification test (NAAT) was performed for discordant cases. RESULTS:Geenius and MP-WB mostly agreed in 95% of the overall, with a Cohen's kappa coefficient at 0.728, indicating substantial agreement. Geenius also produced fewer indeterminate results compared with MP-WB (16.67% vs. 83.33%), mainly in low-reactive samples. At the band level, the highest performances were seen with Gp160 and Gp41, showing concordance rates of 97% and 99%, respectively, with Cohen's kappa coefficient of 0.866 and 0.955. In contrast, the p24 and p31 bands demonstrated lower performances. Among six discordant results, five had low HIV Combo index values and were NAAT confirmed negative. A single high screening ratio and positive NAAT discordant case was classified as acute HIV infection. Excluding indeterminate Geenius results, the Geenius assay displayed 99% sensitivity, 100% specificity, 100% PPV, and 90.9% NPV, which justifies its better diagnostic performance compared to MP-WB. CONCLUSIONS:The Bio-Rad Geenius HIV-1/2 confirmatory test represents a reliable, rapid, and less labor-intensive alternative to MP-WB, offering a simplified approach for confirming HIV diagnoses, with good sensitivity for gp41 and gp160 bands, and can be integrated into diagnostic algorithms.
BACKGROUND:Allergic diseases have been linked to genetic variations in TPSAB1 and TPSB2. This study aimed to develop a Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS) method for simultaneous copy number detection of TPSAB1 and TPSB2. METHODS:We established a multiplex PCR-tandem MALDI-TOF MS assay for TPSAB1 and TPSB2 copy number analysis. To validate the method, 35 standard samples pre-validated by droplet digital PCR (ddPCR) were used to assess accuracy, sensitivity, repeatability, and stability. Additionally, we applied the method to 274 randomly selected population samples for clinical evaluation. RESULTS:The developed MALDI-TOF MS assay demonstrated high reliability, achieving 100% accuracy in standard samples. The detection limit for the standard template was 20 ng, with repeatability (CV: 8.41 - 13.60%) and stability (CV: 7.75 - 17.38%) within acceptable ranges. In the population cohort, the carrier rate for TPSAB1 copy number gain (> 2 copies) was 12.41%. CONCLUSIONS:The MALDI-TOF MS-based method is a robust, cost-effective, and high-throughput molecular diagnostic tool, particularly suited for differentiating highly homologous TPS genes. Its high accuracy and reliability make it a promising clinical assay for TPSAB1 and TPSB2 copy number analysis.
BACKGROUND:Spontaneous hemorrhage is a rare but serious complication of dermatomyositis (DM). METHODS:We report a 61-year-old man with anti-NXP2-positive DM who developed a retroperitoneal hematoma without anticoagulation, shortly after corticosteroid initiation. RESULTS:Laboratory investigations demonstrated rhabdomyolysis, hepatic injury and coagulopathy. The patient was managed with red blood cell transfusion, factor VIII, high-dose corticosteroids and intravenous immunoglobulin, resulting in complete recovery. CONCLUSIONS:Although hemorrhagic events in DM are most often linked to anti-MDA5 or anti-Ro52 antibodies, their association with anti-NXP2 antibodies remains uncertain. This case highlights the importance of early recognition and prompt intervention in managing spontaneous hemorrhage in DM.
