Article
Genetics & Heredity
Henrike Lisa Sczakiel, Wiebke Huelsemann, Manuel Holtgrewe, Angela Teresa Abad-Perez, Jonas Elsner, Sarina Schwartzmann, Denise Horn, Malte Spielmann, Stefan Mundlos, Martin Atta Mensah
Summary: Loss of function variants of GLI3 are associated with different types of polysyndactyly, with GCPS and IPD showing varying severity levels of the same disorder. Variants affecting GLI3 have been found in patients with clinical findings suggestive of a GLI3-associated syndrome, confirming the association of PHS with variants affecting the central third of GLI3 protein. The study suggests a binary division of GLI3-associated disorders into PHS or GCPS/polysyndactyly.
Article
Genetics & Heredity
Xiaofang Shen, Shun Zhang, Xin Zhang, Taifeng Zhou, Yongjun Rui
Summary: This study identified two variants in the GLI3 gene that are associated with polydactyly and syndactyly, leading to truncation and degradation of the GLI3 protein and affecting SHH signaling.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Oncology
Jihai Xu, Xiaokun Chen, Xiaofeng Teng, Xin Wang, Hong Chen
Summary: This study presented a rare case of a family with complex radial polydactyly across six generations, with nine affected individuals. Surgical resection of extra digits showed good hand and thumb function post-operatively for two patients in the study.
ANNALS OF TRANSLATIONAL MEDICINE
(2021)
Article
Obstetrics & Gynecology
Raquel Garcia-Rodriguez, Raul Rodriguez-Rodriguez, Raquel Garcia-Delgado, Azahar Romero-Requejo, Margarita Medina-Castellano, Loida Garcia Cruz, Alfredo Santana Rodriguez, Jose Angel Garcia-Hernandez
Summary: Greig Cephalopolysyndactyly Syndrome is a rare congenital anomaly characterized by macrocephaly, ocular hypertelorism, and polysyndactyly. Prenatal diagnoses are rare, and the diagnosis is typically based on clinical findings and family background. The anomaly is associated with alterations in the GLI3 gene.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Review
Medicine, General & Internal
Jevan Cevik, Omar Salehi, James Gaston, Warren M. M. Rozen
Summary: This systematic review examined the association between maternal smoking during pregnancy and the risk of congenital limb anomalies. The analysis indicated a significant increased risk of these anomalies in infants born to mothers who smoked during pregnancy. These findings underscore the importance of smoking cessation interventions for pregnant women.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Environmental Sciences
Yu-Ting Jiang, Ting-Ting Gong, Jia-Yu Zhang, Yan-Hong Huang, Jing Li, Shu Liu, Yan-Ling Chen, Li-Li Li, Cheng-Zhi Jiang, Zong-Jiao Chen, Yu-Hong Zhao, Qi-Jun Wu
Summary: The study found that exposure to increased concentrations of maternal sulfur dioxide (SO2) during preconception and the first trimester was associated with a higher risk of polydactyly. Additionally, there was an increased risk of syndactyly observed in the analysis of high vs. low quartiles. Most analyses based on different exposure windows showed consistent positive associations.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Xiaoyan Guo, Tengfei Shi, Mingrui Lin, Boling Liu, Yuancheng Pan
Summary: This study identified two novel heterozygous frameshift mutations in the GLI3 gene in Chinese families with non-syndromic polydactyly, expanding the range of mutations associated with this condition. Additionally, a deep intronic mutation was found to have minimal impact on the splicing of the GLI3 gene.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2023)
Article
Genetics & Heredity
Yusi Wang, Xuguang Hao, Xueyuan Jia, Wei Ji, Shuai Yuan, Estelle Judith Abla Gnamey, Min Huang, Lidan Xu, Xuelong Zhang, Jing Bai, Wenjing Sun, Songbin Fu, Yong Liu, Jie Wu
Summary: This study identified a novel GLI3 gene variant, further confirming the association between non-syndromic PAP and GLI3, and expanding the mutational and phenotypic spectrum of GLI3.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Biology
Katalin Balog, Alexandru Eugeniu Mizeranschi, George Wanjala, Biborka Sipos, Szilvia Kusza, Zoltan Bagi
Summary: Introducing SNP technology to pigeon breeding improves the industry's competitiveness, producing healthy and high-quality meat. This study tested the applicability of the Illumina Chicken_50K_CobbCons array on domestic pigeons from two breeds. Despite a significant overlap between groups, the chip had poor performance due to an increased evolutionary distance. However, using a chicken microarray chip on pigeon samples is technically feasible, and larger sample sizes and phenotypic data can enhance efficiency and allow for genome-wide association studies.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2023)
Article
Genetics & Heredity
Ahmed El Mouatani, Geraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, Sandra Whalen, Amale Achaiaa, Sophie Kaltenbach, Andrea Superti-Furga, Michel Vekemans, Heidi Fodstad, Fabienne Giuliano, Tania Attie-Bitach
Summary: This study reports three unrelated probands with homozygous variants in the GLI3 gene, presenting with different degrees of polydactyly, including bilateral postaxial polydactyly and bilateral mesoaxial polydactyly. These patients' parents also carried the same variants, but did not show any clinical signs of GLI3 disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Plant Sciences
Yuanyuan Yan, Shanqiu Sun, Ruixia Xing, Haiyang Jiang, Beijiu Cheng
Summary: This study analyzed 28 accessions of 21 classical maize inbreds using genotyping technology, revealing the fundamental parameters such as genetic homozygosity and stability. The results indicate that genetic purity analysis is crucial for determining essentially derived varieties (EDV), and genetic drift is an important factor affecting EDV formation.
Article
Obstetrics & Gynecology
Yunxiao Zhi, Ling Liu, Shihong Cui, Ying Li, Xiaolin Chen, Jia Che, Xiao Han, Lanlan Zhao
Summary: This study aimed to investigate the presence of pathogenic or likely pathogenic copy number variations (P/LP CNVs) and regions of homozygosity (ROHs) in fetal central nervous system (CNS) malformations. The results showed that the detection rates of P/LP CNVs varied significantly among different phenotypes of CNS malformations, and even simple CNS abnormalities may be associated with genetic abnormalities.
ARCHIVES OF GYNECOLOGY AND OBSTETRICS
(2023)
Article
Medicine, General & Internal
Shi-Jie Zhang, Hai-Bin Lin, Qiu-Xia Jiang, Shao-Zheng He, Guo-Rong Lyu
Summary: This case report presents a 30-year-old pregnant woman with a fetus diagnosed with TPT-PS through prenatal ultrasound and genetic testing. It highlights the importance of combining these methods to accurately diagnose TPT-PS and assist clinicians and patients in making informed decisions.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Orthopedics
Hiroto Saijo, Hiroshi Yoshimoto, Kazuya Kashiyama, Yoshinobu Imamura, Atsuhiko Iwao, Katsumi Tanaka
Summary: This study examined the effects of preoperative classifications and selecting the medial fifth or lateral sixth toe for excision on the postoperative outcomes of surgery for postaxial polydactyly. The results showed that excising the lateral sixth toe produced better postoperative esthetic outcomes, which was supported by the morphological classification. However, it was not correlated with the postoperative bone alignment score. The reoperation rate tended to be high after medial fifth toe excision, but there were no postoperative functional complications.
JOURNAL OF FOOT & ANKLE SURGERY
(2022)
Review
Genetics & Heredity
Christina Dailey, Rashedat B. Oshodi, Christina Boull, Anjali Aggarwal
Summary: Pathogenic variants in the SOX18 gene are associated with two syndromes, hypotrichosis-lymphedema-telangiectasia-renal defects syndrome and hypotrichosis-lymphedema-telangiectasia syndrome. We reported a case of a 15-year-old female patient with a likely de novo SOX18 pathogenic variant, who exhibited both common and novel clinical features including musculoskeletal abnormalities and poor wound healing.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Plant Sciences
Yuanyuan Zhang, Jianli Liang, Xu Cai, Haixu Chen, Jian Wu, Runmao Lin, Feng Cheng, Xiaowu Wang
Summary: The leafy head characteristic of Chinese cabbage is controlled by three BrBRX genes, with functional divergence observed among them. Overexpression of the three genes resulted in similar leaf phenotypes associated with leafy head formation. BrBRX.1 was able to rescue the root phenotype, while BrBRX.2 and BrBRX.3 could not.
HORTICULTURE RESEARCH
(2021)
Article
Plant Sciences
Lei Liu, Kang Zhang, Jinrui Bai, Jinghua Lu, Xiaoxiao Lu, Junling Hu, Chunyang Pan, Shumin He, Jiale Yuan, Yiyue Zhang, Min Zhang, Yanmei Guo, Xiaoxuan Wang, Zejun Huang, Yongchen Du, Feng Cheng, Junming Li
Summary: The study identified the gene SlMBP3 as responsible for locule gel formation in tomato, renamed as AFF, and showed that reducing the expression dosage of AFF can produce unique non-liquefied locule tissue.
JOURNAL OF EXPERIMENTAL BOTANY
(2022)
Article
Biochemistry & Molecular Biology
Xiaoxue Sun, Xing Li, Yin Lu, Shan Wang, Xiaomeng Zhang, Kang Zhang, Xiangjie Su, Mengyang Liu, Daling Feng, Shuangxia Luo, Aixia Gu, Yu Fu, Xueping Chen, Shuxin Xuan, Yanhua Wang, Donghui Xu, Shumin Chen, Wei Ma, Shuxing Shen, Feng Cheng, Jianjun Zhao
Summary: By utilizing a large-scale EMS mutant collection of Chinese cabbage, we successfully identified genes associated with yellow leaf mutant traits and variations in glucosinolate content, and established the Chinese cabbage EMS mutation database. This will facilitate gene mining of Chinese cabbage and the study of other Brassica crops.
Article
Plant Sciences
Kang Zhang, Yinqing Yang, Jian Wu, Jianli Liang, Shumin Chen, Lei Zhang, Honghao Lv, Xiaona Yin, Xin Zhang, Yiyue Zhang, Lingkui Zhang, Yangyong Zhang, Michael Freeling, Xiaowu Wang, Feng Cheng
Summary: Leaf heading is an important horticultural trait in vegetables. This study identifies the transcriptional regulation mechanism and developmental switch involved in the transition to leaf heading in Chinese cabbage and cabbage. The launch of the transition stage is closely associated with ambient temperature, and the ethylene pathway is hypothesized to have been targeted for selection during the domestication of Chinese cabbage to form the heading trait. These findings provide new insights for future studies of leafy head crops.
Article
Multidisciplinary Sciences
Hongbing She, Zhiyuan Liu, Zhaosheng Xu, Helong Zhang, Feng Cheng, Jian Wu, Xiaowu Wang, Wei Qian
Summary: This study reported the chloroplast genomes of different Spinacia species and found a close relationship between S. turkestanica and S. oleracea. A comprehensive variant dataset of Spinacia resources was also provided, which serves as an important reference for spinach breeding programs.
SCIENTIFIC REPORTS
(2022)
Article
Plant Sciences
Peng Wu, Lingkui Zhang, Kang Zhang, Yulai Yin, Ailian Liu, Yue Zhu, Yu Fu, Fangfang Sun, Shuping Zhao, Kai Feng, Xuewen Xu, Xuehao Chen, Feng Cheng, Liangjun Li
Summary: Occupation of living space is a driving force of adaptive evolution, especially for aquatic plants. Euryale ferox, a water plant, develops large leaves to compete for space on the water surface. Cell proliferation of the leaves occurs underwater, while cell expansion happens after they grow above water. Analysis of the genome and transcriptome dynamics of E. ferox revealed that genes from a specific sub-genome were more involved in the adaptive evolution of leaf development. Additionally, genes related to cell proliferation, expansion, photosynthesis, and energy transportation were over-retained and showed expression association with leaf development stages.
Article
Plant Sciences
Lixin Yue, Rifei Sun, Guoliang Li, Feng Cheng, Limin Gao, Qinghua Wang, Shifan Zhang, Hui Zhang, Shujiang Zhang, Fei Li
Summary: Four heterotic QTL and a heterozygous segment for plant weight were identified in heading Chinese cabbage, revealing the significant role of heterosis in yield-related traits. Pseudo-overdominance and synergistic allelic effects from parent line XJD4 appear to play an important role in heterosis for plant weight in Chinese cabbage. These findings provide insights into the molecular mechanisms underlying yield-related traits and heterosis.
Article
Horticulture
Lixin Yue, Shujiang Zhang, Lingkui Zhang, Yujia Liu, Feng Cheng, Guoliang Li, Shifan Zhang, Hui Zhang, Rifei Sun, Fei Li
Summary: This study investigated the heterotic prediction of hybrid performance in Chinese cabbage using 91 hybrids produced from a half-diallel cross of 14 parental lines. The results showed that genetic distance and parental phenotype can be used to predict heterosis. Whole-genome SNP markers were found to be effective tools for evaluating genetic distance and selecting parental lines in breeding Chinese cabbage.
SCIENTIA HORTICULTURAE
(2022)
Article
Agriculture, Multidisciplinary
Huang Yi-le, Zhang Ling-kui, Zhang Kang, Chen Shu-min, Hu Jian-bin, Cheng Feng
Summary: Whole genome duplication (WGD) and tandem duplication (TD) are important mechanisms in plant genome evolution. This study found that Vitis vinifera, which did not undergo a whole genome triplication event, retained more tandem duplicated gene (TDG) clusters compared to Solanaceae species that experienced the event. There was also a bias in the functional categories of genes retained through WGD and TD, with WGD retaining dose-sensitive genes and TD retaining stress resistance genes. The study also provided evidence of gene fusion events in TDG clusters, which contribute to functional innovation.
JOURNAL OF INTEGRATIVE AGRICULTURE
(2022)
Article
Agriculture, Multidisciplinary
Feng AN, Kang ZHANG, Ling-kui ZHANG, Xing LI, Shu-min CHEN, Hua-sen WANG, Feng CHENG
Summary: This study identified and analyzed DMR genes in Brassica rapa and Brassica oleracea, showing differences in gene numbers, evolutionary selection pressure, and footprints of selection in different pathways. Transcriptome analysis revealed similar expression characteristics of most DMR genes between these two species.
JOURNAL OF INTEGRATIVE AGRICULTURE
(2022)
Article
Plant Sciences
Zheng Wang, Jinghua Yang, Feng Cheng, Peirong Li, Xiaoyun Xin, Weihong Wang, Yangjun Yu, Deshuang Zhang, Xiuyun Zhao, Shuancang Yu, Fenglan Zhang, Yang Dong, Tongbing Su
Summary: The review highlights the mechanistic basis of subgenome dominance and uses Brassica rapa as an example to show its impact on genome evolution and expression bias, as well as its role in intraspecific diversification.
HORTICULTURE RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Yacong Cao, Kang Zhang, Hailong Yu, Shumin Chen, Donghui Xu, Hong Zhao, Zhenghai Zhang, Yinqing Yang, Xiaozhen Gu, Xinyan Liu, Haiping Wang, Yaxin Jing, Yajie Mei, Xiang Wang, Veronique Lefebvre, Weili Zhang, Yuan Jin, Dongliang An, Risheng Wang, Paul Bosland, Xixiang Li, Ilan Paran, Baoxi Zhang, Giovanni Giuliano, Lihao Wang, Feng Cheng
Summary: By constructing a pepper variome map, this study explored the domestication and breeding process of pepper, identifying key events and genes involved in fruit shape, pungency, weight, and orientation changes. The results revealed the importance of Up gene in controlling fruit orientation and highlighted the role of strong selection and fixation in shaping the pepper genome.
Article
Biotechnology & Applied Microbiology
Feiyan He, Shaoguang Duan, Yinqiao Jian, Jianfei Xu, Jun Hu, Zhicheng Zhang, Tuanrong Lin, Feng Cheng, Guangcun Li
Summary: This study identified and analyzed the 14-3-3 gene family in potatoes through genome-wide analysis, providing insights into their evolutionary relationships and expression patterns. The results indicate that these genes play important roles in regulating biological processes and responding to abiotic stresses in plants. This research provides valuable information for further studying the function and regulation of St14-3-3 gene family members in potatoes.
Editorial Material
Biochemistry & Molecular Biology
Xiaohui Yang, Lingkui Zhang, Xiao Guo, Jianfei Xu, Kang Zhang, Yinqing Yang, Yu Yang, Yinqiao Jian, Daofeng Dong, Sanwen Huang, Feng Cheng, Guangcun Li
Article
Biochemistry & Molecular Biology
Kang Zhang, Yinqing Yang, Xin Zhang, Lingkui Zhang, Yu Fu, Zhongwei Guo, Shumin Chen, Jian Wu, James C. Schnable, Keke Yi, Xiaowu Wang, Feng Cheng
Summary: Orychophragmus violaceus, known as eryuelan in China, is an early-flowering ornamental plant with potential as a high-quality oilseed crop. By sequencing technologies, a 1.3 Gb genome was assembled for O. violaceus, which went through tetraploidization from a diploid progenitor. Comparative analysis suggests subgenome dominance and independent tetraploidization in O. violaceus, which is closely related to the Brassica genus. The findings shed light on polyploidization evolution and functional innovation in O. violaceus.
PLANT COMMUNICATIONS
(2023)
Article
Medical Laboratory Technology
Jiansheng Lin, Weihua Lin, Yiming Lin, Weilin Peng, Zhenzhu Zheng
Summary: This study retrospectively analyzed the cases of Chinese infants with NICCD and identified multiple genetic mutations. The study also found comorbidity of NICCD and other inborn errors of metabolism in some patients.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Lihua Guan, Wei Su, Jian Zhong, Ling Qiu
Summary: Multiple myeloma is characterized by excessive production of monoclonal immunoglobulins. Routine screening methods are insufficient for detecting low levels of M proteins, but advances in mass spectrometry enable reliable detection of low abundance serum biomarkers for minimal residual disease assessment in multiple myeloma.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Liya Zhu, Chao Zhu, Jialie Jin, Jinxin Wang, Xiaojing Zhao, Rongxi Yang
Summary: This study found an association between blood-based ITGB2 methylation and coronary heart disease (CHD), with hypomethylation of ITGB2 being a risk factor for CHD. Additionally, the combination of ITGB2 methylation and conventional CHD risk factors could efficiently discriminate CHD patients from controls.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
H. Al Habobe, E. B. Haverkort, K. Nazmi, A. P. Van Splunter, R. H. H. Pieters, F. J. Bikker
Summary: Saliva diagnostics have become popular due to their non-invasive nature and patient-friendly collection process. However, the choice of saliva collection method can affect the measured levels of various biomarkers.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Abdurrahman Coskun, Anna Carobene, Ozlem Demirelce, Michele Mussap, Federica Braga, Ebru Sezer, Aasne Karine Aarsand, Sverre Sandberg, Pilar Fernandez Calle, Jorge Diaz-Garzon, Metincan Erkaya, Cihan Coskun, Esila Nur Erol, Hunkar Dag, Bill Bartlett, Mustafa Serteser, Niels Jonker, Ibrahim Unsal
Summary: In this study, BV estimates for 22 AAs were provided based on a large sample size, and it was found that there are differences in CVI estimates between males and females for most AAs, which has implications for the clinical interpretation and use of AAs.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Valentinus Besin, Farizky Martriano Humardani, Trilis Yulianti, Matthew Justyn
Summary: The study of Parkinson's Disease in Asian populations has revealed the impact of genetic variants on multiple biological pathways and highlighted shared genetic susceptibility with other diseases. These findings emphasize the importance of personalized treatment based on individual genetic profiles.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Simona Ferraro, Sara Benedetti, Savina Mannarino, Santica Marcovina, Elia Mario Biganzoli, Gianvincenzo Zuccotti
Summary: Risk stratification for cardio-vascular disease should be implemented in childhood to promote early prevention strategies, as atherosclerotic lesions can be present even in very young individuals. Evaluating pediatric CV risk factors/clinical conditions and conducting lipid profile and genetic testing can help identify children at risk of future CV events and guide appropriate therapeutic options.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Ahmad Mobed, Bita Abdi, Sajjad Masoumi, Mohammad Mikaeili, Elham Shaterian, Hamed Shaterian, Esmat Sadat Kazemi, Mahdiye Shirafkan
Summary: Reproductive biomarkers play important regulatory roles in women. The discovery and quantification of these biomarkers are clinically significant. Various detection strategies, including nanotechnology-based methods, have been developed. This article provides an in-depth introduction to the latest advances in biosensor and nanosensor research for detecting and quantitatively identifying reproductive biomarkers.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Chengfang Tang, Fang Tang, Yanna Cai, Minyi Tan, Sichi Liu, Ting Xie, Xiang Jiang, Yonglan Huang
Summary: This study proposes an effective method for screening X-ALD and evaluates the performance of newborn screening for X-ALD in Guangzhou. The LC-MS/MS method can accurately identify X-ALD through analysis of C26:0-LPC.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Lan Liu, Jiamin Wang, Xijing Liu, Jing Wang, Lin Chen, Hongmei Zhu, Jingqun Mai, Ting Hu, Shanling Liu
Summary: The 16p11.2 deletion is a common genetic cause of neurodevelopmental disorders, with prenatal and postnatal presentations including vertebral malformations and language impairment. The majority of deletions are de novo and may be associated with MAPK3 and histidine-associated metabolism.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Sneha Venkatesalu, Shanmugapriya Dilliyappan, Avanthika Satish Kumar, Thirunavukkarasu Palaniyandi, Gomathy Baskar, Maddaly Ravi, Asha Sivaji
Summary: Microfluidics is a science and technology that deals with less sample-to-more precision in vitro analysis. It has wide applications in cancer theranostics, enabling precise diagnosis and personalized treatment.
CLINICA CHIMICA ACTA
(2024)
Review
Medical Laboratory Technology
Yuanqin Zhao, Wei Deng, Zhaoyue Wang, Yanxia Wang, Hongyu Zheng, Kun Zhou, Qian Xu, Le Bai, Huiting Liu, Zhong Ren, Zhisheng Jiang
Summary: The cardiovascular system and the central nervous system exhibit a coordinated developmental process during embryonic development. Congenital heart disease (CHD) is the most common congenital disorder, and neurodevelopmental disorders (NDD) are common complications in CHD patients. Both genetic and non-genetic factors contribute to the co-occurrence of CHD and NDD. Further research should focus on identifying common molecular mechanisms underlying this co-occurrence and promoting the research and treatment of developmental disorders related to the cardiovascular and central nervous systems.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Karol Gostomczyk, Ewelina Lukaszewska, Jedrzej Borowczak, Anita Bator, Marek Zdrenka, Magdalena Bodnar, Lukasz Szylberg
Summary: Flow cytometry improves the detection of epithelial cancer cells in peritoneal and pleural fluids compared to conventional cytology. Due to similar speciflcity and higher sensitivity, flow cytometry offers a promising alternative to cytology for patient screening.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Heping Tian, Genghuan Wang, Qi Zhong, Haihang Zhou
Summary: This study found that the decline of serum ITIH4 concentrations during the early phase after aneurysmal subarachnoid hemorrhage (aSAH) was closely related to the severity and poor prognosis of the disease. Serum ITIH4 may represent a promising prognostic biomarker of aSAH.
CLINICA CHIMICA ACTA
(2024)
Article
Medical Laboratory Technology
Xueting Zhu, Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua Luo, Lu Zheng
Summary: This study successfully established a 2D-PCR method for identifying HLA-B*15:02 through a two-tube reaction. This method can distinguish HLA-B*15:02 from 16 highly homologous HLA-B*15 alleles. Among 1830 samples from the clinical general population, 3 HLA-B*15:02 homozygotes and 84 HLA-B*15:02 heterozygotes were detected.
CLINICA CHIMICA ACTA
(2024)