Clinica Chimica Acta最新文献

{"title":"Daily dosing frequency as a determinant of clozapine concentration-to-dose ratio: Data from a therapeutic drug monitoring service (2019–2022)","authors":"Jing Ding,&nbsp;Suo zhang,&nbsp;Luyao Li,&nbsp;Huan Xing,&nbsp;Yang Zhang,&nbsp;Zhuocheng Meng,&nbsp;Xiaohua Cui","doi":"10.1016/j.cca.2024.120064","DOIUrl":"10.1016/j.cca.2024.120064","url":null,"abstract":"<div><h3>Background and Aims</h3><div>Daily dosing frequency is an important factor influencing the plasma concentration of clozapine. This study investigated pharmacokinetic parameters in different daily dosing frequency regimens of clozapine in a naturalistic therapeutic drug monitoring sample to establish the necessary clozapine dosage to achieve plasma levels of 350–600 ng/mL in the Chinese population.</div></div><div><h3>Study design</h3><div>A single-center, retrospective, cross-sectional study was conducted at Xi’an Mental Health Center in China, where data on clozapine-treated patients between 2019 and 2022 were collected. The clozapine concentration-to-dose (C/D) ratios were compared between subgroups receiving different dosing regimens (once, twice, or three times per day) using Kruskal–Wallis <em>H</em> and Mann–Whitney <em>U</em>-tests.</div></div><div><h3>Study Results</h3><div>The Kruskal–Wallis <em>H</em> test indicated significant variations in the C/D ratios among the three groups (<em>p</em> &lt; 0.001). These findings were also consistent with the sex and age subgroup analyses. The receiver operating characteristic (ROC) analysis revealed that the twice-daily group required a daily clozapine dose of 125–225 mg to achieve the expected therapeutic reference concentration, with a corresponding clozapine C/D ratio of 1.6–2.8. The daily dose needed to reach therapeutic clozapine levels was higher in men than in women and in patients aged ≤ 44 years than in those aged ≥ 45 years.</div></div><div><h3>Conclusions</h3><div>The daily clozapine dosing frequency is an important factor influencing the pharmacokinetic profile of clozapine. Large-scale, multicenter, prospective studies are needed to validate the clinically significant results of this study by administering the same total daily dose at different daily dosing frequencies.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120064"},"PeriodicalIF":3.2,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142745880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset Facioscapulohumeral muscular dystrophy type 1","authors":"Chen Liu ,&nbsp;Rui Dong ,&nbsp;Bingyi Shi ,&nbsp;Kai Ma ,&nbsp;Lili Kang ,&nbsp;Xiaomei Li ,&nbsp;Xianghong Liu ,&nbsp;Lili Miao ,&nbsp;Huiting Yu ,&nbsp;Yuqiang Lv ,&nbsp;Haiyan Zhang ,&nbsp;Xiaoying Li","doi":"10.1016/j.cca.2024.120062","DOIUrl":"10.1016/j.cca.2024.120062","url":null,"abstract":"<div><h3>Background</h3><div>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition caused by shortened D4Z4 repeat units in the subtelomeric region of 4q35, always on the 4qA haplotype, or due to variants in the <em>SMCHD1</em> gene leading to hypomethylation of the D4Z4 macrosatellite DNA repeats.</div></div><div><h3>Methods</h3><div>To explore the potential genetic basis for suspected FSHD presenting with early onset in two siblings without evident family history of the disorder, whole genome sequencing (WGS) and optical genome mapping (OGM) were conducted on the affected individuals and their parents.</div></div><div><h3>Results</h3><div>The two siblings manifested severe and early-onset clinical features consistent with FSHD, initiating with facial muscle weakness that progressively spread downward since the age of four months. OGM disclosed a reduced number of D4Z4 repeat units within the subtelomeric region of 4q35 in both affected siblings. This finding was pivotal in establishing the diagnosis of FSHD1 in the two brothers. The analysis also revealed that their clinically asymptomatic mother harbored the pathogenic D4Z4 repeat configuration (4qA) at a 50% frequency, indicating her mosaic carrier status. Additionally, WGS and Sanger sequencing identified a paternal origin variant c.695_699del (p.Val232Glyfs*7) in the <em>DNAJB6</em> gene in both siblings.</div></div><div><h3>Conclusion</h3><div>The application of advanced genomic methodologies has proven instrumental in unraveling the intricacies of genetic diseases that challenge traditional diagnostic paradigms. Specifically, this study highlights the effectiveness of OGM in diagnosing FSHD1 and confirming D4Z4 repeat reduction, particularly in cases involving parental mosaicism.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120062"},"PeriodicalIF":3.2,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early detection of acute kidney injury through an alert system improves outcomes in hospitalized patients","authors":"Raquel Galván ,&nbsp;P. Fernandez-Riejos ,&nbsp;C. Sánchez Mora ,&nbsp;M. Salgueira Lazo ,&nbsp;W. Aguilera Morales ,&nbsp;A. Monzón ,&nbsp;M. Jiménez Barragán ,&nbsp;C. Rodriguez-Chacón ,&nbsp;I. Almazo Guerrero ,&nbsp;A. León Justel","doi":"10.1016/j.cca.2024.120061","DOIUrl":"10.1016/j.cca.2024.120061","url":null,"abstract":"<div><h3>Background and Aims</h3><div>Acute kidney injury (AKI) acquired in hospital settings has emerged as a significant public health issue. It is linked to prolonged hospital stays, increased healthcare costs, heightened risk of developing chronic kidney disease, mortality, and the need for ongoing post-hospitalization care. Our hypothesis suggests that timely recognition of AKI, identification of its underlying causes, and expert management by specialists could lead to improved prognoses for hospitalized patients.</div></div><div><h3>Materials and methods</h3><div>We have devised an electronic-alert system that incorporates an action and follow-up plan overseen by a multidisciplinary team of hospital professionals. We compared the prognosis of patients measured in terms of length of hospital stay, in-hospital mortality and improvement of renal function at different points.</div></div><div><h3>Results</h3><div>Almost 80 % of patients in the Intervention group had a significant decrease in serum creatinine 48 h after the alert. The length of hospital stay was longer in the Non-Intervention group than in the Intervention group: 12 (8 – 20) vs 10 (6 – 15) days (p = 0.002), as was mortality during hospitalization: 34 % of cases vs 19.9 % (p = 0.002). The median survival of the Non-Intervention group was estimated at 20 (14 – 26) days, while that of the Intervention group was estimated at 33 (20 – 45) days.</div></div><div><h3>Conclusions</h3><div>Our study highlights the importance of closely monitoring at-risk patients for AKI during and after hospitalization. Prompt risk assessment and interventions by healthcare professionals, including clinical laboratory involvement, could improve AKI prognosis.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120061"},"PeriodicalIF":3.2,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fecal fatty acid-linked bile acid profiles in pediatric patients with ulcerative colitis","authors":"Hiromi Suzuki ,&nbsp;Mitsuyoshi Suzuki ,&nbsp;Keisuke Jimbo ,&nbsp;Musashi Hibio ,&nbsp;Takahiro Sasaki ,&nbsp;Tsuyoshi Murai ,&nbsp;Yukiko Yamashita ,&nbsp;Mizuho Une ,&nbsp;Shojiro Ogawa ,&nbsp;Toru Okamoto ,&nbsp;Seiko Narushima ,&nbsp;Wataru Suda ,&nbsp;Genta Kakiyama ,&nbsp;Taka-aki Matsuyama ,&nbsp;Hajime Takei ,&nbsp;Hiroshi Nittono","doi":"10.1016/j.cca.2024.120060","DOIUrl":"10.1016/j.cca.2024.120060","url":null,"abstract":"<div><h3>Objective</h3><div>Effect of gut dysbiosis on fatty acid (FA) linked 3β-hydroxy-bile acid esters (FA-isoBAs) formation is currently unknown. This study aimed to investigate the profile of FA-isoBAs in fecal samples from pediatric patients with ulcerative colitis (UC).</div></div><div><h3>Methods</h3><div>Fecal samples were collected from seven pediatric patients diagnosed with UC and seven age-matched healthy controls. Liquid chromatography-tandem mass spectrometry (LC/MS) method was set up for quantifications of thirteen different FA-isoBAs, including three new FA-isoBAs which had never been characterized. Method validation tests were performed with optimization of sample preparation. Statistical analyses were conducted to compare FA-isoBA concentrations between UC patients and healthy controls.</div></div><div><h3>Results</h3><div>The LC/MS method had sufficient linearity (r &gt; 0.998), with the low detection limit (0.03–2.82 nmol/g stool), and limits of quantification (0.10–9.40 nmol/g stool) for all FA-isoBAs. The total FA-isoBAs concentration in UC patients was significantly lower than healthy controls, regardless of the degree of the disease severity. The UC subjects had markedly increased primary bile acid (BA) levels with decreased secondary BAs. Propionic acid-linked isoBA and stearic acid-linked 12-oxo-isolithocholic acid were newly identified from healthy subjects but they were not present in UC subjects. In agreement with the previous report, composition of long-chain (C16-C18) FA-linked BAs dominated over short-chain FA-linked BAs both in healthy and disease subjects.</div></div><div><h3>Conclusion</h3><div>The present study reported the fecal FA-isoBA profiles in pediatric UC patients for the first time. The results open the door to the new field that investigates the role of these microbial-driven BAs in gastrointestinal health.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120060"},"PeriodicalIF":3.2,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interest of hair tests and supplement tests to discriminate a tail end of a doping regimen from a supplement contamination in case of challenging an anti-doping rule violation. VII. Case example with clomiphene","authors":"Pascal Kintz ,&nbsp;Laurie Gheddar ,&nbsp;Alessandro Di Giorgi ,&nbsp;Simona Pichini ,&nbsp;Luis Ferrari","doi":"10.1016/j.cca.2024.120059","DOIUrl":"10.1016/j.cca.2024.120059","url":null,"abstract":"<div><div>Clomiphene or clomifene is a selective estrogen receptor modulator (SERM) used in therapeutic to enhance the fertility of women. As the drug can influence testosterone circulating concentrations, clomiphene is prohibited at all times under the world anti-doping agency prohibited list in the class S4.2 (hormones and metabolic modulators). Clomiphene can also be administered to animals, particularly hens, due to its fertility-enhancing effect. As a consequence, there is a potential risk of contamination for athletes eating egg products which has already been noticed by sport authorities. The authors report the case of a male athlete who returned an adverse analytical finding for clomiphene with very low concentrations in urine (estimated to be 0.15 and 0.01 ng/mL for clomiphene and 4-OH-clomiphene, respectively). As the athlete challenged the anti-doping rule violation, a hair specimen (black in colour and 6.5 cm in length) was collected about 14 weeks after the urine collection and tested for clomiphene by liquid chromatography coupled to tandem mass spectrometry using a previously described method. Clomiphene was identified at 185, 170 and 125 pg/mg in 3 × 2 cm hair segments, demonstrating repetitive exposures to the drug over the last 6 months. The athlete submitted an egg powder (albumin) used for many months to the laboratory, and this product returned positive for clomiphene at 230 ng/g. Given a daily intake of 20 g, the subject was exposed to 4.6 μg of clomiphene per day that was found consistent to produce the positive signal in urine, in relation with a very long elimination half-life.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120059"},"PeriodicalIF":3.2,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142703994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of magnetic bead-assisted liquid chromatography-tandem mass spectrometry method for analyzing serum bile acid profiles: Advancing toward automated mass spectrometry","authors":"Yu Zhou ,&nbsp;Jing Du ,&nbsp;Yamei Liu ,&nbsp;Jinfei Ma ,&nbsp;Xiaofen Yuan ,&nbsp;Jun Xia","doi":"10.1016/j.cca.2024.120058","DOIUrl":"10.1016/j.cca.2024.120058","url":null,"abstract":"<div><h3>Background</h3><div>Magnetic bead-assisted extraction technology offers potential for automating mass spectrometry processes, yet research in this area remains limited. Here, we developed and validated a magnetic bead extraction method to simultaneously analyze 13 bile acid profiles in human serum.</div></div><div><h3>Methods</h3><div>A magnetic bead-assisted liquid chromatography-tandem mass spectrometry (LC-MS/MS) method was established for serum bile acid profiles. The linearity, accuracy, precision, matrix effect, carryover, stability test and interference test of the LC-MS/MS method were assessed. Comparative analysis involving 20 pregnant women evaluated different methodologies for diagnosing and monitoring intrahepatic cholestasis of pregnancy (ICP).</div></div><div><h3>Results</h3><div>The magnetic bead extraction method demonstrated analytical performance comparable to the traditional protein precipitation method. The method exhibited linear responses across the clinical reference interval for all 13 bile acids. Meanwhile, the recovery rates for bile acid analytes ranged from 85.14 to 114.43%, and the repeatability was within 1.68 to 10.83%, meeting acceptance criteria. Our magnetic bead-assisted extraction method showed no obvious matrix effects and carryover effects. The extracted specimens remained stable in the autosampler for 24 h, and the interference test suggested the bile acid profile results would not be significantly affected under different interfering substances. Furthermore, comparative studies with traditional protein precipitation method showed comparable results, and our method exhibited robust clinical consistency in monitoring the efficacy of ICP patients.</div></div><div><h3>Conclusions</h3><div>We developed a straightforward magnetic bead extraction method coupled with LC-MS/MS for bile acid profiles. It can be applied to the clinical routine diagnosis of ICP and facilitate the automated mass spectrometry processes.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120058"},"PeriodicalIF":3.2,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The KCNB2 gene and its role in neurodevelopmental disorders: Implications for genetics and therapeutic advances","authors":"Zakaria Ahmed Mohamed ,&nbsp;Jinghua Li ,&nbsp;Jianping Wen ,&nbsp;Feiyong Jia ,&nbsp;Santasree Banerjee","doi":"10.1016/j.cca.2024.120056","DOIUrl":"10.1016/j.cca.2024.120056","url":null,"abstract":"<div><div>Neurodevelopmental disorders (NDDs) are increasingly linked to genetic mutations that disrupt key neuronal processes. The <em>KCNB2</em> gene encodes a crucial component of voltage-gated potassium channels, essential for regulating neuronal excitability and synaptic transmission. Mutations in <em>KCNB2</em> typically alter potassium channel inactivation, leading to various NDDs, including autism spectrum disorders (ASD), intellectual disabilities (ID), and epilepsy. This narrative review synthesizes findings from genetic, molecular, and clinical studies on the <em>KCNB2</em> gene and its role in NDDs. Relevant literature was identified through database searches in PubMed, Embase, PsycINFO, Scopus, and Web of Science, focusing on studies that examine <em>KCNB2′s</em> molecular mechanisms, pathogenic mutations, and clinical implications in NDDs. In addition to its role in excitability, <em>KCNB2′s</em> impact on cognitive processes, such as memory and attention, is considered, highlighting the need for further research. Potential interventions, including pharmacological modulation and gene therapy, are also discussed. Future research should focus on characterizing <em>KCNB2</em> variants, expanding genetic screening, and advancing targeted therapies to improve outcomes for individuals affected by <em>KCNB2</em>-related disorders.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120056"},"PeriodicalIF":3.2,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leveraging supported liquid extraction and automated workflow for high efficiency and high quality clinical LC-MS/MS method for quantification of urinary 5-hydroxyindoleacetic acid (5-HIAA), vanillylmandelic acid (VMA) and homovanillic acid (HVA)","authors":"Difei Sun ,&nbsp;Dawn-Marie Murphy McLean ,&nbsp;Jan Palaty ,&nbsp;Danijela Konforte","doi":"10.1016/j.cca.2024.120057","DOIUrl":"10.1016/j.cca.2024.120057","url":null,"abstract":"<div><h3>Background and Aims</h3><div>5-hydroxyindoleacetic acid (5-HIAA), vanillylmandelic acid (VMA) and homovanillic acid (HVA) are neurotransmitter metabolites used for the diagnosis and monitoring of neuroendocrine tumors. This study’s objective was to apply automation to improve efficiency and quality of a liquid chromatography tandem mass spectrometry (LC-MS/MS) procedure for quantification of 5-HIAA, VMA and HVA in human urine.</div></div><div><h3>Methods</h3><div>5-HIAA, VMA and HVA in urine samples were extracted with automated supported liquid extraction (SLE) and quantified by LC-MS/MS utilizing scheduled multiple reaction monitoring (MRM). An in-house developed middleware was used to automate data analysis and reporting.</div></div><div><h3>Results</h3><div>The average recovery for 5-HIAA, VMA and HVA in different types of urine matrix varied between 92.5 % and 99.0 %, while the average matrix factor varied between 98.6 % and 103.4 %. The results of other validation studies: stability, sensitivity, analytical measurement range, selectivity, accuracy, precision, dilution verification, carryover, and method comparison all met the performance criteria.</div></div><div><h3>Conclusions</h3><div>Automated SLE is a suitable sample preparation technique for quantification of 5-HIAA, VMA and HVA in human urine. Workflow automation described in this study resulted in 54 % of overall time savings and 80 % of hands-on time savings compared to all manual approach.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120057"},"PeriodicalIF":3.2,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142686248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy","authors":"Hiroyuki Awano ,&nbsp;Yoshinori Nambu ,&nbsp;Kayo Osawa ,&nbsp;Taku Shirakawa ,&nbsp;Tsuyoshi Matsumura ,&nbsp;Akiko Wakisaka ,&nbsp;Satoshi Kuru ,&nbsp;Michinori Funato ,&nbsp;Yasuhiro Takeshima ,&nbsp;Keiko Ishigaki ,&nbsp;Michio Kobayashi ,&nbsp;Tatsuharu Sato ,&nbsp;Tatsuya Fujii ,&nbsp;Kazuma Sugie ,&nbsp;Koichi Kimura ,&nbsp;Hirofumi Komaki ,&nbsp;Akinori Nakamura ,&nbsp;Masafumi Matsuo","doi":"10.1016/j.cca.2024.120053","DOIUrl":"10.1016/j.cca.2024.120053","url":null,"abstract":"<div><h3>Background</h3><div>Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the <em>DMD</em> gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear. This study aimed to investigate the relationship between urinary titin levels and the clinical data in patients with BMD.</div></div><div><h3>Methods</h3><div>Urine samples were collected from 123 patients with BMD, and urinary titin levels were measured. The association of urinary titin with clinical data, including age, physical measurements, physical activity, blood tests, and cardiopulmonary test results, was examined.</div></div><div><h3>Results</h3><div>A total of 257 urine samples were obtained from patients of 5–79 years of age. The median urinary titin level was 72.6 pmol/mg Cr (range 0.2–4325.0 pmol/mg Cr). No strong correlation was found between urinary titin levels and age, physical measurements, physical function, blood test results, or cardiopulmonary function. However, on comparing clinical data between the age-matched high urinary titin (N = 94) and normal (N = 29) groups, the high urinary titin group had a significantly greater number of non-ambulatory cases (23.9 % vs. 3.6 %), weaker grip strength (16.3 vs. 32.0 kg), and higher serum creatine kinase (1072 vs. 398 U/L) and cardiac troponin I (10.6 vs. 2.5 pg/mL) levels.</div></div><div><h3>Conclusion</h3><div>Urinary titin was identified as a biomarker reflecting walking ability, muscle strength, and skeletal and cardiac damage in patients with BMD.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120053"},"PeriodicalIF":3.2,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-coding RNA biosensors for early detection of brain cancer","authors":"Yousof karami ,&nbsp;Sajad Ehtiati ,&nbsp;Hassan Ghasemi ,&nbsp;Maedeh Rafiee ,&nbsp;Maryam Zamani Sani ,&nbsp;Seyed Edris Hosseini ,&nbsp;Hossein Moradi Kazerouni ,&nbsp;Ahmad Movahedpour ,&nbsp;Saleh Aiiashi ,&nbsp;Seyyed Hossein Khatami","doi":"10.1016/j.cca.2024.120041","DOIUrl":"10.1016/j.cca.2024.120041","url":null,"abstract":"<div><div>Brain cancer remains a formidable challenge with limited treatment options. Non-coding RNAs (ncRNAs) have emerged as promising biomarkers due to their dysregulation in tumorigenesis. This review explores the potential of biosensors for early detection of brain cancer by targeting ncRNAs. We discuss the classification and functions of ncRNAs, emphasizing their involvement in key cancer-related processes. Additionally, we delve into recent advancements in biosensor technology, focusing on their ability to accurately detect specific ncRNA biomarkers associated with brain cancer. Our findings underscore the potential of biosensors to revolutionize brain cancer diagnosis, enabling personalized medicine and improving patient outcomes. Future research should focus on refining biosensor technology and expanding their clinical application.</div></div>","PeriodicalId":10205,"journal":{"name":"Clinica Chimica Acta","volume":"566 ","pages":"Article 120041"},"PeriodicalIF":3.2,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}