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Analysis of Factors Affecting Hematopoietic Stem Cell Mobilization Efficiency and Early Hematopoietic Reconstruction Indicators during Autologous Peripheral Blood Hematopoietic Stem Cell Transplantation

Global Medical Genetics

by Shi, Hao, Duan, Yaya, Bu, Xinting

5d ago

Glob Med Genet 2024; 11: 159-166 DOI: 10.1055/s-0044-1786006 Purpose To analyze the factors affecting the mobilization efficiency of hematopoietic stem cells and hematopoietic reconstruction indicators during autologous peripheral hematopoietic stem cell transplantation. Methods The clinical data of 54 patients who underwent autologous peripheral blood hematopoietic stem cell mobilization and transplantation at Xuzhou Central Hospital from May 2016 to April 2023 were retrospectively analyzed. The gender, age, disease type, mobilization regimen, number of chemotherapy sessions, G-CSF (granulocy ..read more

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Association between Serum Lactate Dehydrogenase Level and 30-day Mortality in Patients with Intracranial Hemorrhage with Acute Leukemia in the Induction Phase: A Cohort Study

Global Medical Genetics

by Zhang, Jia-Yuan, Yan, Zhang-Song, Sun, Xiu-Juan, Liu, Yong-Ze, Yin, Yan-Ke, Su, Ming-Huan, Li, Qiu-Ling, Mi, Ying-Chang, Li, Da-Peng

2w ago

Glob Med Genet 2024; 11: 142-149 DOI: 10.1055/s-0044-1786005 Objectives This study aimed to identify the association between lactate dehydrogenase (LDH) levels and 30-day mortality in patients with intracranial hemorrhage (ICH) with acute leukemia during the induction phase. Methods This cohort study included patients with acute leukemia with ICH during induction. We evaluated serum LDH levels upon admission. Multivariable Cox regression analyzed the LDH 30-day mortality association. Interaction and stratified analyses based on factors like age, sex, albumin, white blood cell count, hemoglobin ..read more

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Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2V617F Mutation

Global Medical Genetics

by Liu, Yupeng, Han, Cong, Li, Jie, Xu, Shicai, Xiao, Zhijian, Guo, Zhiyun, Rao, Shuquan, Yao, Yao

2w ago

Glob Med Genet 2024; 11: 132-141 DOI: 10.1055/s-0044-1785537 Precise quantification of the JAK2V617F mutation using highly sensitive assays is crucial for diagnosis, treatment process monitoring, and prognostic prediction in myeloproliferative neoplasms' (MPNs) patients. Digital droplet polymerase chain reaction (ddPCR) enables precise quantification of low-level mutations amidst a high percentage of wild type alleles without the need for external calibrators or endogenous controls. The objective of this study was to optimize a ddPCR assay for detecting the JAK2V617F mutation and establish it ..read more

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Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages

Global Medical Genetics

by DiAdamo, Autumn, Chai, Hongyan, Chong, Mei Ling, Wang, Guilin, Wen, Jiadi, Jiang, Yong-Hui, Li, Peining

3w ago

Glob Med Genet 2024; 11: 123-131 DOI: 10.1055/s-0044-1785227 Background A retrospective study was performed to evaluate the patterns of cytogenomic findings detected from a case series of products of conception (POC) in recurrent pregnancy loss (RPL) over a 16-year period from 2007 to 2023. Results This case series of RPL was divided into a single analysis (SA) group of 266 women and a consecutive analysis (CA) group of 225 women with two to three miscarriages analyzed. Of the 269 POC from the SA group and the 469 POC from the CA group, a spectrum of cytogenomic abnormalities of simple aneuplo ..read more

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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature

Global Medical Genetics

by Kelkar, Janhawi, DiMaio, Miriam, Ma, Deqiong, Zhang, Hui

1M ago

Glob Med Genet 2024; 11: 100-112 DOI: 10.1055/s-0044-1785442 We report a 4-year-old girl with neurodevelopmental abnormalities who has maternal uniparental isodisomy of chromosome 2 leading to homozygosity for a likely pathogenic variant in SPR, and a variant of uncertain significance in ZNF142. Biallelic pathogenic variants in SPR lead to sepiapterin reductase deficiency (SRD), a dopa-responsive dystonia. Pathogenic variants in ZNF142 are associated with an autosomal recessive neurodevelopmental disorder characterized by impaired speech and hyperkinetic movements, which has significant clinic ..read more

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The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk

Global Medical Genetics

by Mozaffarizadeh, Hengameh, Mokarian, Fariborz, Salehi, Mansoor, Hakimian, Seyyed Mohammad Reza, Moazam, Elham, Amoozadehsamakoosh, Amirmohammad, Hosseinzadeh, Majid, Behnam, Mahdieh, Behjati, Mohaddeseh, Naseri, Alma, Lotfi, Marzieh, Tohidi, Fatemeh

1M ago

Glob Med Genet 2024; 11: 069-075 DOI: 10.1055/s-0044-1779040 Background In addition to its multifaceted physiological functions, vitamin D is recognized for its protective role against cancer. To manifest its effects, vitamin D engages with the vitamin D receptor (VDR) gene responsible for its encoding. Investigations have unveiled that polymorphisms within the VDR gene exert influence over the expression and/or functionality of the VDR protein. Notably, certain VDR gene polymorphisms have emerged as particularly pertinent in the context of tumorigenesis, including Fok1 (rs2228570), Bsm1 (rs15 ..read more

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Expert Consensus on the Diagnosis and Treatment of NRG1/2 Gene Fusion Solid Tumors

Global Medical Genetics

by Xu, Chunwei, Wang, Qian, Wang, Dong, Wang, Wenxian, Fang, Wenfeng, Li, Ziming, Liu, Aijun, Yu, Jinpu, Zhong, Wenzhao, Wang, Zhijie, Zhang, Yongchang, Liu, Jingjing, Zhang, Shirong, Cai, Xiuyu, Liu, Anwen, Li, Wen, Zhan, Ping, Liu, Hongbing, Lv, Tangfeng, Miao, Liyun, Min, Lingfeng, Chen, Yu, Yuan, Jingping, Wang, Feng, Jiang, Zhansheng, Lin, Gen, Huang, Long, Pu, Xingxiang, Lin, Rongbo, Liu, Weifeng, Rao, Chuangzhou, Lv, Dongqing, Yu, Zongyang, Li, Xiaoyan, Tang, Chuanhao, Zhou, Chengzhi, Zhang, Junping, Xue, Junli, Guo, Hui, Chu, Qian, Meng, Rui, Wu, Jingxun, Zhang, Rui, Zhou, Jin, Zhu, Zhengfei, Li, Yongheng, Qiu, Hong, Xia, Fan, Lu, Yuanyuan, Chen, Xiaofeng, Ge, Rui, Dai, Enyong, Han, Yu, Pan, Weiwei, Pang, Fei, He, Qingqing, Huang, Jintao, Wang, Kai, Wu, Fan, Xu, Bingwei, Wang, Liping, Zhu, Youcai, Lin, Li, Xie, Yanru, Lin, Xinqing, Cai, Jing, Xu, Ling, Li, Jisheng, Jiao, Xiaodong, Li, Kainan, Wei, Jia, Feng, Huijing, Wang, Lin, Du, Yingying, Yao, Wang, Shi, Xuefei, Niu, Xiaomin, Yuan, Dongmei, Yao, Yanwen, Huang, Jianhui, Feng, Yue, Zhang, Yinbin, Sun, Pingli, Wang, Hong, Ye, Mingxiang, Wang, Zhaofeng, Hao, Yue, Wang, Zhen, Wan, Bin, Lv, Donglai, Yang, Shengjie, Kang, Jin, Zhang, Jiatao, Zhang, Chao, Ou, Juanjuan, Shi, Lin, Wang, Yina, Li, Bihui, Zhang, Zhang, Li, Zhongwu, Liu, Zhefeng, Yang, Nong, Wu, Lin, Wang, Huijuan, Jin, Gu, Wang, Guansong, Wang, Jiandong, Fang, Meiyu, Fang, Yong, Li, Yuan, Wang, Xiaojia, Zhang, Yiping, Zhu, Xixu, Shen, Yi, Ma, Shenglin, Wang, Biyun, Si, Lu, Song, Yong, Lu, Yuanzhi, Chen, Jing, Song, Zhengbo

2M ago

Glob Med Genet 2024; 11: 086-099 DOI: 10.1055/s-0044-1781457 The fusion genes NRG1 and NRG2, members of the epidermal growth factor (EGF) receptor family, have emerged as key drivers in cancer. Upon fusion, NRG1 retains its EGF-like active domain, binds to the ERBB ligand family, and triggers intracellular signaling cascades, promoting uncontrolled cell proliferation. The incidence of NRG1 gene fusion varies across cancer types, with lung cancer being the most prevalent at 0.19 to 0.27%. CD74 and SLC3A2 are the most frequently observed fusion partners. RNA-based next-generation sequencing is t ..read more

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Genetic Modifications of Developmental Dyslexia and Its Representation Using In Vivo, In Vitro Model

Global Medical Genetics

by Zaki, Zakiyyah M.M., Ali, Siti A., Ghazali, Mazira M., Jam, Faidruz A.

2M ago

Glob Med Genet 2024; 11: 076-085 DOI: 10.1055/s-0044-1781456 Dyslexia is a genetic and heritable disorder that has yet to discover the treatment of it, especially at the molecular and drug intervention levels. This review provides an overview of the current findings on the environmental and genetic factors involved in developmental dyslexia. The latest techniques used in diagnosing the disease and macromolecular factors findings may contribute to a higher degree of development in detangling the proper management and treatment for dyslexic individuals. Furthermore, this review tried to put toge ..read more

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Association of Cytogenetics Aberrations and IGHV Mutations with Outcome in Chronic Lymphocytic Leukemia Patients in a Real-World Clinical Setting

Global Medical Genetics

by Muñoz-Novas, Carolina, González-Gascón-y-Marín, Isabel, Figueroa, Iñigo, Sánchez-Paz, Laura, Pérez-Carretero, Claudia, Quijada-Álamo, Miguel, Rodríguez-Vicente, Ana-Eugenia, Infante, María-Stefania, Foncillas, María-Ángeles, Landete, Elena, Churruca, Juan, Marín, Karen, Ramos, Victoria, Sánchez Salto, Alejandro, Hernández-Rivas, José-Ángel

2M ago

Glob Med Genet 2024; 11: 059-068 DOI: 10.1055/s-0044-1779668 Immunoglobulin heavy chain variable (IGHV) region mutations, TP53 mutation, fluorescence in situ hybridization (FISH), and cytogenetic analysis are the most important prognostic biomarkers used in chronic lymphocytic leukemia (CLL) patients in our daily practice. In real-life environment, there are scarce studies that analyze the correlation of these factors with outcome, mainly referred to time to first treatment (TTFT) and overall survival (OS). This study aimed to typify IGHV mutation status, family usage, FISH aberrations, and co ..read more

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Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study

Global Medical Genetics

by Li, Yang, Sun, Ting, Chen, Jia, Zhang, Lei

2M ago

Glob Med Genet 2024; 11: 48-58 DOI: 10.1055/s-0044-1779665 Epidemiological and experimental evidence has linked chronic inflammation to the etiology of myeloproliferative neoplasm (MPN). However, it remains unclear whether genetic associations with specific inflammatory biomarkers are causal or due to bias. This study aimed to assess the effect of C-reactive protein (CRP) and systemic inflammatory regulators on MPN within a bidirectional Mendelian randomization design. Genetic associations with MPN were derived from a publicly available genome-wide association study (GWAS) comprising 1,086 cas ..read more

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