Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
This study retrospectively analyzed genetic screening results for pathogenic GLA variants in 17,171 newborns. The results indicated an estimated incidence of FD in the Nanjing region of China of approximately 1 in 1321. The most prevalent pathogenic variant among potential FD patients was c.640-801G > A (46.15 %). Furthermore, the residual enzyme activity of the pathogenic variant c.911G > C was marginally higher than that of other variants, and suggesting that genetic screening may be more effective in identifying potential female and late-onset patients compared to enzyme activity testing. This research offers init...
Source: International Journal of Clinical Chemistry - March 26, 2024 Category: Chemistry Authors: Yun Sun Xian-Wei Guan Yan-Yun Wang Dong-Yang Hong Zhi-Lei Zhang Ya-Hong Li Pei-Ying Yang Xin Wang Tao Jiang Xia Chi Source Type: research

Comparison of the five different definitions of equol producers: The relationship between blood and urine equol concentrations and blood parameters in 466 healthy men and women
CONCLUSIONS: More stringent definitions were associated with better parameters in general. Combined with the dietary inquires, a reliable definition for equol producer is crucial to evaluate the health benefits of equol.PMID:38527713 | DOI:10.1016/j.cca.2024.117885 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 25, 2024 Category: Chemistry Authors: Khin Zay Yar Myint Remi Yoshikata Junichi Taguchi Source Type: research

Circulating soluble CD30 is associated with renal tertiary lymphoid structures and the progression of IgA nephropathy
CONCLUSION: Elevated level of circulating CD30 is an independent risk factor for renal disease progression in patients with IgAN.PMID:38527714 | DOI:10.1016/j.cca.2024.117888 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 25, 2024 Category: Chemistry Authors: Ran Luo Duo Qian Dan Yang Yichun Cheng Junhua Li Liu Liu Yueqing Li Qing Lei Xiaoyan Chang Yanyan Liu Gang Xu Shuwang Ge Source Type: research

Copy number variation sequencing for the products of conception: What is the optimal testing strategy
CONCLUSIONS: We propose an initial CNV-seq followed by QF-PCR if needed-an efficient and cost-effective strategy for the genetic analysis of POCs.PMID:38522821 | DOI:10.1016/j.cca.2024.117884 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 24, 2024 Category: Chemistry Authors: Yiyao Chen Xu Han Renyi Hua Niu Li Lanlan Zhang Wenjing Hu Yanlin Wang Zhida Qian Shuyuan Li Source Type: research

Copy number variation sequencing for the products of conception: What is the optimal testing strategy
CONCLUSIONS: We propose an initial CNV-seq followed by QF-PCR if needed-an efficient and cost-effective strategy for the genetic analysis of POCs.PMID:38522821 | DOI:10.1016/j.cca.2024.117884 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 24, 2024 Category: Chemistry Authors: Yiyao Chen Xu Han Renyi Hua Niu Li Lanlan Zhang Wenjing Hu Yanlin Wang Zhida Qian Shuyuan Li Source Type: research

Direct comparison of the diagnostic performance of growth differentiation factor 8 in pediatric versus adult heart failure
CONCLUSION: GDF-8 did not accurately differentiate between HF patients and normal comparators in neither adults nor in children.PMID:38521162 | DOI:10.1016/j.cca.2024.117883 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 23, 2024 Category: Chemistry Authors: Achim Leo Burger Jakob A Hauser Alexandra Kaider Stefan Stojkovic Andr é Diedrich Ina Michel-Behnke Kurt Huber Johann Wojta Thomas Pezawas Svitlana Demyanets Source Type: research

Improving newborn screening in India: Disease gaps and quality control
Clin Chim Acta. 2024 Mar 21:117881. doi: 10.1016/j.cca.2024.117881. Online ahead of print.ABSTRACTIn India, newborn screening (NBS) is essential for detecting health problems in infants. Despite significant progress, significant gaps and challenges persist. India has made great strides in genomics dueto the existence of the National Institute of Biomedical Genomics in West Bengal. The work emphasizes the challenges NBS programs confront with technology, budgetary constraints, insufficient counseling, inequality in illness panels, and a lack of awareness. Advancements in technology, such as genetic testing and next-generati...
Source: International Journal of Clinical Chemistry - March 23, 2024 Category: Chemistry Authors: Sanjyoti A Panchbudhe Rajni R Shivkar Arnab Banerjee Paulami Deshmukh Bithin Kumar Maji Charushila Y Kadam Source Type: research

Electrochemical immunosensing of tumor markers
Clin Chim Acta. 2024 Mar 21;557:117882. doi: 10.1016/j.cca.2024.117882. Online ahead of print.ABSTRACTThe rising incidence and mortality rates of cancer have led to a growing need for precise and prompt early diagnostic approaches to effectively combat this disease. However, traditional methods employed for detecting tumor cells, such as histopathological and immunological techniques, are often associated with complex procedures, high analytical expenses, elevated false positive rates, and a dependence on experienced personnel. Tracking tumor markers is recognized as one of the most effective approaches for early detection...
Source: International Journal of Clinical Chemistry - March 23, 2024 Category: Chemistry Authors: Venkata Narayana Palakollu Y Veera Manohara Reddy Mehdihasan I Shekh S V Prabhakar Vattikuti Jaesool Shim Rajshekhar Karpoormath Source Type: research

Direct comparison of the diagnostic performance of growth differentiation factor 8 in pediatric versus adult heart failure
CONCLUSION: GDF-8 did not accurately differentiate between HF patients and normal comparators in neither adults nor in children.PMID:38521162 | DOI:10.1016/j.cca.2024.117883 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 23, 2024 Category: Chemistry Authors: Achim Leo Burger Jakob A Hauser Alexandra Kaider Stefan Stojkovic Andr é Diedrich Ina Michel-Behnke Kurt Huber Johann Wojta Thomas Pezawas Svitlana Demyanets Source Type: research

Improving newborn screening in India: Disease gaps and quality control
Clin Chim Acta. 2024 Mar 21:117881. doi: 10.1016/j.cca.2024.117881. Online ahead of print.ABSTRACTIn India, newborn screening (NBS) is essential for detecting health problems in infants. Despite significant progress, significant gaps and challenges persist. India has made great strides in genomics dueto the existence of the National Institute of Biomedical Genomics in West Bengal. The work emphasizes the challenges NBS programs confront with technology, budgetary constraints, insufficient counseling, inequality in illness panels, and a lack of awareness. Advancements in technology, such as genetic testing and next-generati...
Source: International Journal of Clinical Chemistry - March 23, 2024 Category: Chemistry Authors: Sanjyoti A Panchbudhe Rajni R Shivkar Arnab Banerjee Paulami Deshmukh Bithin Kumar Maji Charushila Y Kadam Source Type: research

Electrochemical immunosensing of tumor markers
Clin Chim Acta. 2024 Mar 21:117882. doi: 10.1016/j.cca.2024.117882. Online ahead of print.ABSTRACTThe rising incidence and mortality rates of cancer have led to a growing need for precise and prompt early diagnostic approaches to effectively combat this disease. However, traditional methods employed for detecting tumor cells, such as histopathological and immunological techniques, are often associated with complex procedures, high analytical expenses, elevated false positive rates, and a dependence on experienced personnel. Tracking tumor markers is recognized as one of the most effective approaches for early detection and...
Source: International Journal of Clinical Chemistry - March 23, 2024 Category: Chemistry Authors: Venkata Narayana Palakollu Y Veera Manohara Reddy Mehdihasan I Shekh S V Prabhakar Vattikuti Jaesool Shim Rajshekhar Karpoormath Source Type: research

Altered Neopterin and IDO in Kynurenine Metabolism based on LC-MS/MS Metabolomics Study: Novel Therapeutic Checkpoints for Type 2 Diabetes Mellitus
Clin Chim Acta. 2024 Mar 20:117859. doi: 10.1016/j.cca.2024.117859. Online ahead of print.NO ABSTRACTPMID:38518968 | DOI:10.1016/j.cca.2024.117859 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 22, 2024 Category: Chemistry Authors: Zhenni Liu Zijia Ma Lizi Jin Xiaerbanu Nizhamuding Jie Zeng Tianjiao Zhang Jiangtao Zhang Jing Wang Haijian Zhao Weiyan Zhou Chuanbao Zhang Source Type: research

Metabolomic Profiling of Serum and Tongue Coating of Pregnant Women with Intrahepatic Cholestasis in Pregnancy
In this study, we performed untargeted metabolomic profiling of the serum, tongue coating, and saliva of 66 pregnant women, including 22 with ICP. The metabolomic profiles of the serum and tongue coatings showed marked differences between the two clinical groups. Forty-six differentially abundant metabolites were identified, and their relative concentrations correlated with total bile acid levels. These differential metabolites included bile acids, lipids, microbiota- and diet-related metabolites, and exposomes. Conventional biochemical markers, including serum aminotransferases and bilirubin, were not significantly increa...
Source: International Journal of Clinical Chemistry - March 21, 2024 Category: Chemistry Authors: Feng Zhang Fang Liu Xiaoyi Xu Weilan Su Yu Rong Fu-Ying Tian Weimin Xiao Yichun Wu Kai P Law Ping Wen Source Type: research

Metabolomic Profiling of Serum and Tongue Coating of Pregnant Women with Intrahepatic Cholestasis in Pregnancy
In this study, we performed untargeted metabolomic profiling of the serum, tongue coating, and saliva of 66 pregnant women, including 22 with ICP. The metabolomic profiles of the serum and tongue coatings showed marked differences between the two clinical groups. Forty-six differentially abundant metabolites were identified, and their relative concentrations correlated with total bile acid levels. These differential metabolites included bile acids, lipids, microbiota- and diet-related metabolites, and exposomes. Conventional biochemical markers, including serum aminotransferases and bilirubin, were not significantly increa...
Source: International Journal of Clinical Chemistry - March 21, 2024 Category: Chemistry Authors: Feng Zhang Fang Liu Xiaoyi Xu Weilan Su Yu Rong Fu-Ying Tian Weimin Xiao Yichun Wu Kai P Law Ping Wen Source Type: research

Biomarkers identification in follicular fluid in relation to live birth in in vitro fertilization of women with polycystic ovary syndrome in different subtypes by using UPLC-MS method
CONCLUSION: The follicular fluid of women with PCOS showed unique metabolic characteristics. Our study provides better identification of PCOS follicular fluid metabolic dynamics, which may serve as potential biomarkers of live birth.PMID:38508572 | DOI:10.1016/j.cca.2024.117860 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - March 20, 2024 Category: Chemistry Authors: Xitong Liu Chen Zhang Jianlei Huang Haiou Liu Bo Li Feifei Zhang Congjian Xu Source Type: research