Annals of clinical and laboratory science最新文献

{"title":"Presentation of Extended-Spectrum Beta-Lactamase-Producing <i>Escherichia Coli</i> Sequence Type 58 Strain (ST58) with Solid Subcutaneous Mass and Hypermucoid Phenotype: A Case Report.","authors":"Miguel Carabaño, Eunji Jang, Swapna Charla, Gerard Nau, Sara Geffert, Ece D Gamsiz Uzun, Tao Hong","doi":"","DOIUrl":"","url":null,"abstract":"<p><p><i>Escherichia coli</i> (<i>E. coli</i>) is a versatile bacterium, presenting a wide variety of virulence factors contributing to intestinal and extraintestinal disease. This paper presents a unique case of <i>Escherichia coli</i> strain exhibiting an extended-spectrum beta-lactamase (ESBL) as determined by minimum inhibitory concentration (MIC), identified as sequence type 58 (ST58). The strain, isolated from a clinical specimen, displayed unusual characteristics, forming a solid subcutaneous mass and presenting a hypermucoid phenotype. Comprehensive analysis, including whole-genome sequencing (WGS) and conventional serotyping, was conducted to understand the genetic and phenotypic features of this atypical <i>E. coli</i> strain.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 4","pages":"590-595"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic <i>RNASEH2B</i> Variant.","authors":"Keun Soo Lee, Da Eun Roh, Eun Jin Choi, Ji Kyoung Park, Chang Ahn Seol, Young Mi Kim, Seung Hwan Oh, Bo Lyun Lee","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder marked by early-onset encephalopathy. This report investigates the genetic basis of AGS in a newborn from consanguineous parents with microcephaly, recurrent hemorrhagic strokes, brain calcifications, leukodystrophy, epilepsy, anemia, thrombocytopenia, and left ventricular hypertrophy. Next-generation sequencing-based targeted gene panel testing for epilepsy <i>c.65-13G>A</i> variant in the <i>RNASEH2B</i> gene. Both parents were identified as carriers of the heterozygous mutation, confirming autosomal recessive inheritance. RNA analysis showed that this variant created a new splice site, leading to an 11-base-pair extension in exon 2. This alteration caused a frameshift (p.Glu22Valfs*7) and subsequent truncation of the RNASEH2B protein. This case highlights the severe neurological manifestations of AGS in newborns and elucidates the pathogenic mechanism of a newly identified intronic <i>RNASEH2B</i> variant.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"437-442"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationships between Hematometabolic Index and Cardiovascular Risk Factors in Middle-aged Men.","authors":"Ichiro Wakabayashi","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>We have recently proposed hematometabolic index (HMI), defined as the product of blood hemoglobin concentration and leukocyte count after modification, as a new discriminator of cardiovascular risk. However, the relationships between HMI and the traditional cardiovascular risk factors remain to be determined.</p><p><strong>Methods: </strong>The subjects were 10917 middle-aged men who had received annual health checkup examinations. HMI was calculated as the product of hemoglobin (g/dl)-minus-13 and leukocyte count (/μl)-minus-3000. Relationships between HMI and traditional cardiovascular risk factors were investigated.</p><p><strong>Results: </strong>HMI tended to be lower with an increase of age and was significantly higher in smokers than in nonsmokers. HMI was significantly lower in drinkers than in nondrinkers and was significantly lower in subjects with a habit of regular exercise than in subjects without such a habit. In analysis of variance and logistic regression analysis using quartile groups of HMI, HMI was significantly associated with BMI, waist-to-height ratio, blood pressure, triglycerides, LDL cholesterol, HDL cholesterol, and hemoglobin A_1c. Adjusted odds ratios of the fourth vs. first quartiles of HMI were 3.44 (3.00~3.93) for high BMI, 3.53 (3.11~4.01) for high waist-to-height ratio, 1.54 (1.33~1.79) for hypertension, 2.56 (2.22~2.96) for high triglycerides, 1.68 (1.35~2.09) for low HDL cholesterol, 2.50 (2.15~2.91) for high LDL cholesterol, 2.15 (1.65~2.79) for diabetes, 3.89 (3.35~4.52) for high cardiometabolic index, and 3.98 (3.27~4.85) for metabolic syndrome.</p><p><strong>Conclusion: </strong>HMI was associated with traditional cardiovascular risk factors including smoking, alcohol drinking, regular exercise, adiposity, blood pressure, blood lipids, and glycemic status. HMI declined with an increase of age. Therefore, HMI is a discriminator of cardiovascular risk that is influenced by age.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"393-403"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of MMP-2 Variant with Atrial Fibrillation in Elderly Patients: A Comparative Analysis Involving GJA1 and IL-6R Variants.","authors":"Akile Tuncal, Hikmet Hakan Aydın, Elif Karadadas, Levent Hurkan Can, Emre Demir, Handan Ak","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Atrial fibrillation (AF) is a common arrhythmia caused by genetic modifications affecting biological processes such as cell communication, inflammation, and ion channels. Changes that occur over time happen gradually. By understanding the functional significance of these variations, we have analyzed single nucleotide polymorphisms (SNPs) in matrix metalloproteinase 2 (MMP-2), connexin 43 (GJA1/CX43), and interleukin 6 receptor (IL-6R) in patients aged 65 or older who have been diagnosed with atrial fibrillation. This analysis is grounded in the biological processes that are related to AF.</p><p><strong>Methods: </strong>Blood samples were collected from 301 individuals, consisting of 151 patients (77 males and 74 females) and 150 control subjects (93 males and 57 females), aged between 65 and 80. We employed a TaqMan assay, a PCR-based genotyping technique, to examine samples for the presence of three specific SNPs: rs243865 in the <i>MMP-2</i> gene, rs13216675 in the <i>GJA1/CX43</i> gene, and rs4845625 in the <i>IL-6R</i> gene.</p><p><strong>Results: </strong>Upon comparing the patient group to the control group, a notable contrast was found in MMP-2 variations between the reference allele (C) and alternate allele (T) (<i>p</i>=0.0053). Individuals with the TT homozygous genotype exhibited a higher odds ratio (4.57, <i>p</i>=0.02).</p><p><strong>Conclusion: </strong>A significant association has been observed between rs243865 in the <i>MMP-2</i> gene, highlighting its crucial role in the pathways related to the association and development of AF. However, no significant difference was found between the control group and patients regarding the <i>GJA1</i> and <i>IL-6R</i> genetic variations.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"385-392"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Donor-Derived <i>SF3B1</i>-Mutated Myelodysplastic Neoplasm/Syndrome.","authors":"Anindita Ghosh, Jie Xu, Gautam Borthakur, Amanda Olson, L Jeffrey Medeiros, Sanam Loghavi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a rare case of donor-derived <i>SF3B1</i>-mutated myelodysplastic syndrome (MDS) arising in a 45-year-old woman following haploidentical allogeneic hematopoietic stem cell transplantation (allo-HSCT) for acute myeloid leukemia. Initial remission was achieved post-induction, and transplantation resulted in full donor chimerism. However, routine post-transplant surveillance revealed a novel <i>SF3B1</i> K666N mutation, evolving to overt MDS with ring sideroblasts and multilineage dysplasia. Persistent 100% donor chimerism confirmed the donor-derived nature of the neoplasm. The patient's course was complicated by severe graft-versus-host disease, opportunistic infections, and ultimately death. This case highlights the diagnostic challenges and clinical implications of donor-derived MDS, particularly involving <i>SF3B1</i> mutations, which are typically associated with favorable prognosis but remain poorly characterized in post-transplant settings.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"434-436"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the Neutrophil-Based Inflammatory Indexes SIRI and NHR in Patients with Extensive-Stage Small Cell Lung Cancer Receiving First-Line Immune Checkpoint Inhibitors Plus Chemotherapy.","authors":"Yu Shao, Xinyi Han, Huihao Yu, Jing Liu, Xiaojing Wang, Yan Yang","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To determine the predictive value of two neutrophil-based inflammatory indexes - the systemic inflammatory response index (SIRI) and the neutrophil-to-high density lipoprotein ratio (NHR) - in extensive-stage small cell lung cancer (ES-SCLC) patients treated with first-line immune checkpoint inhibitors (ICIs) and chemotherapy.</p><p><strong>Methods: </strong>From May 2020 to May 2023, we enrolled 101 ES-SCLC patients receiving first-line ICIs and chemotherapy in this study. Clinicopathological features, haematological indicators including the SIRI and NHR, treatment efficacy, and patient outcome data were analyzed.</p><p><strong>Results: </strong>There was no statistically significant difference in efficacy or outcome among enrolled patients receiving programmed cell death protein 1 (PD-1) or programmed cell death ligand 1 (PD-L1) inhibitors. The baseline SIRI (<i>P</i>=0.136) and NHR (<i>P</i>=0.453) did not perform well in predicting treatment response. The serum SIRI before treatment was not significantly different from that after two treatment cycles (<i>P</i>=0.113). After two treatment cycles, the serum NHR exhibited a significant decrease from its pretreatment value (<i>P</i>=0.004). The dynamics of the serum SIRI and NHR before therapy and at disease progression did not significantly differ (all <i>P</i>>0.05). The median progression-free survival (mPFS) and median overall survival (mOS) of patients were significantly longer in the high-SIRI group than in the low-SIRI group (mPFS: 7.033 vs. 5.900 months, <i>P</i>=0.020; mOS: 16.233 vs. 11.200 months, <i>P</i>=0.012). Moreover, patients in the low-NHR subgroup presented significantly longer mPFS and mOS than did those in the high-NHR subgroup (mPFS: 7.033 vs. 4.900 months, <i>P</i>=0.002; mOS: 13.933 vs. 8.500 months, <i>P</i>=0.006). Finally, multivariate analyses revealed that Eastern Cooperative Oncology Group performance status, the pretreatment serum SIRI, and the pretreatment serum NHR (all <i>P</i><0.050) can serve as valuable independent predictors for PFS and OS in patients with ES-SCLC.</p><p><strong>Conclusions: </strong>The baseline serum SIRI and NHR can serve as promising indicators of prognosis, but not treatment response, in ES-SCLC patients receiving first-line ICIs and chemotherapy.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"354-364"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Puerarin Alleviates High-Fat Diet-Induced Non-Alcoholic Fatty Liver Disease by Modulating Gut Microbiota.","authors":"Yun-Tao Ling, Xin-Ying Zhang, Zu-Liang Yuan, Zhen Tao","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>Non-alcoholic fatty liver disease (NAFLD) is a growing health concern with limited early treatment options. Puerarin, an active component derived from Pueraria lobata (kudzu), has been traditionally used in Chinese medicine for its potential therapeutic benefits. This study explores the effect of puerarin on the development of NAFLD and its mechanisms.</p><p><strong>Methods: </strong>Sprague Dawley rats with NAFLD were induced with a high-fat diet (HFD). Control rats received a standard diet, while puerarin was administered by gavage (0.4 or 0.8 g/kg) daily from week 9. Body weights were recorded weekly. After 16 weeks, liver tissues and related indicators of rats were examined. Gut microbiota was assessed via 16S rRNA sequencing of fecal sample.</p><p><strong>Results: </strong>Compared to HFD rats, those treated with puerarin showed significant reductions in body weight, liver weight, and liver index. Liver tissue levels of TG, TC, ALT, AST, and inflammatory factors were also significantly decreased. In addition, serum levels of TG, TC, and LDL-C were lower, while HDL-C level was higher in puerarin-treated groups. 16S rRNA sequencing revealed that gut microbiota composition and diversity in the puerarin groups resembled those of healthy rats, maintaining the level of <i>Subdologranulum</i> and decreased the level of <i>Ruminococcus</i>.</p><p><strong>Conclusion: </strong>Puerarin alleviates HFD diet-induced NAFLD by reducing inflammatory cytokine production and modulating the gut microbiota. Puerarin is a potential therapeutic drug for NAFLD, and regulating the gut microbiota is an effective strategy for treating NAFLD.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"335-346"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Resolving Uncertainty in Hepatitis B Diagnosis: Evaluating Neutralization Testing for Borderline HBsAg.","authors":"Beom Se Son, Jaeeun Yoo","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>To assess the performance of neutralization confirmatory testing for borderline hepatitis B surface antigen (HBsAg) results (signal-to-cutoff [S/CO] 1.0-10.0) in a low-prevalence population.</p><p><strong>Method: </strong>We retrospectively analyzed 115 borderline-reactive HBsAg samples from asymptomatic adults with normal liver enzyme levels. Screening was performed using the Abbott Alinity i assay, followed by confirmatory testing with the Abbott HBsAg Confirmatory Reagent. A ≥50% signal reduction was required for confirmation.</p><p><strong>Results: </strong>Among 115 borderline samples, 61 (53.0%) were confirmed by neutralization testing. Confirmation rates increased with higher S/CO values: 31.6% (1.0-2.0), 57.1% (2.1-5.0), and 75.0% (5.1-10.0). The median S/CO values were 1.5 (1.0-2.0), 3.4 (2.1-5.0), and 7.2 (5.1-10.0) for each subrange. Logistic regression showed a significant correlation between higher S/CO values and confirmation (odds ratio 1.42 per unit increase, <i>p</i><0.001). Notably, most unconfirmed cases had S/CO values below 3.0, suggesting frequent false reactivity in low-positive samples.</p><p><strong>Conclusion: </strong>Lower borderline HBsAg results often reflect nonspecific assay reactivity, emphasizing the need for confirmatory testing to prevent misdiagnosis. Higher S/CO values were strongly associated with true HBsAg positivity, supporting the use of neutralization testing in routine practice.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"404-408"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HDM-2-Targeting Peptide PNC-27 Kills Cervical Cancer Cells but not Normal Cervical Cells.","authors":"Patryck K Krzesaj, Shabnam Seydafkan, Anna I Miller, Hui Ting Chen, Prem Premsrirut, Alfred Shim, Steven Mcglinchey, Ehsan Yazdi, Paul Brandt-Rauf, Miriam Silberstein, Gholamali Jahari, Richard D Feinman, Matthew R Pincus","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>The peptide PNC-27 has been found to kill many different endodermal solid tissue and hematopoietic cancer cells but has no effect on normal cells. The mechanism involves binding to the HDM-2 protein, which is expressed in the membranes of cancer cells but not in normal (untransformed) cells. Our objectives in the current study are to determine 1) if PNC-27 is lethal to squamous cervical epithelial cancer cells but not to untransformed squamous cervical cells; 2) if membrane-bound HDM-2 is expressed uniquely in cervical cancer cells; and 3) whether HDM-2 is stable for detection in different types of preservative solutions.</p><p><strong>Methods: </strong>We determined dose response curves for incubation of PNC-27 with the human squamous cervical cancer cell line HTB-35 (also called SiHa cells) and with the untransformed human squamous cervical cell line, PCS-480. Cell viability was determined using the MTT and LDH release assays. Finally, slot blots and flow cytometry were used to determine membrane expression of HDM-2 using a polyclonal anti-HDM-2 antibody.</p><p><strong>Results: </strong>We found that PNC-27 is cytotoxic even at low doses (IC₅₀=12.4 μM) to the human HTB-35 cervical cancer squamous epithelial cell line but not to a counterpart normal human PCS-480 cell line. We found that HTB-35 cells express high levels of HDM-2 proteins in their membranes both in cell culture and in alcoholic preservative solutions but that the normal PCS-480 cells do not. Consistent with previous results, the data suggest that cervical cancer cells express HDM-2 in their membranes and that this is the target for PNC-27.</p><p><strong>Conclusions: </strong>PNC-27 kills cervical squamous cancer but not normal cervical cells due to the unique expression of HDM-2 in the cervical squamous cell membranes. Thus, PNC-27 may be an effective drug against this cancer. Our results further suggest that the expression of membrane-bound HDM-2 on cervical cancer cells is stable both in cell culture media and in alcoholic preservative fluid.</p>","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"347-353"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Information About The Association of Clinical Scientists.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":8228,"journal":{"name":"Annals of clinical and laboratory science","volume":"55 3","pages":"477"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}