Recurrent KCNN4 p.Ser314Pro variant in a child with Gardos channelopathy: a 6-year follow-up [0.03%]
KCNN4反复出现p.Ser314Pro变异的Gardos通道障碍患者的6年随访研究
Manuel Vargas-Pabón,Lorena García-Iglesias,Olga Castro-González et al.
Manuel Vargas-Pabón et al.
Gardos channelopathy is a rare dehydrated hereditary stomatocytosis caused by gain-of-function KCNN4 mutations. We report a pediatric case due to a recurrent p.Ser314Pro variant, representing the first description outside the Italian popula...
Living with sickle cell disease in the Arab world: Quality of life beyond clinical severity [0.03%]
阿拉伯世界的镰状细胞病患者生存质量研究：超越临床严重程度的影响因素探究
May AlMoshary,Ahmad Ali Alharbi,Ekremah A Alzarea et al.
May AlMoshary et al.
Background: Sickle Cell Disease (SCD) poses a significant public health burden in the Arab world. Yet, its impact on Health-Related Quality of Life (HRQoL) remains understudied, particularly across different MENA countrie...
Compound heterozygous variants in F7 gene causing severe factor VII deficiency without bleeding: A genotypic and laboratory analysis [0.03%]
F7基因复合杂合变异导致重度凝血因子VII缺乏但无出血表型的病例报告及实验室分析
Fengjiao Wang,Meina Liu,Yanhui Jin et al.
Fengjiao Wang et al.
Coagulation factor VII (FVII) is a vitamin K-dependent glycoprotein and serves as a key initiator of the extrinsic coagulation pathway. Hereditary FVII deficiency is an autosomal recessive genetic disorder with a highly heterogeneous bleedi...
Propofol attenuates H2O2-induced senescence in human umbilical vein endothelial cells by activating the NRF2/HO-1 axis [0.03%]
异丙酚通过激活NRF2/HO-1信号轴缓解人脐静脉内皮细胞氧化应激诱导的衰老损伤
Guilong Yu,Yinhao Guo,Shilian Tan et al.
Guilong Yu et al.
This study investigated the protective effect and mechanism of propofol (PPF) against hydrogen peroxide (H2O2)-induced oxidative damage in human umbilical vein endothelial cells (HUVECs). An H2O2-induced injury model was established and tre...
Is it time to implement a hemorheology passport in sickle cell disease? [0.03%]
实施镰状细胞病血液流变学护照的时候了吗？
Philippe Connes,Marie Martin,Céline Renoux et al.
Philippe Connes et al.
From blood viscosity to a hemorheology passport: Making sickle-cell monitoring clinically actionable [0.03%]
从血液黏度到血流变护照：使镰状细胞监测具有临床操作性
M Vijayasimha,Srikanth Mulavagili
M Vijayasimha
A real-world analysis of polycythemia vera at two comprehensive cancer centers in Cali, Colombia [0.03%]
哥伦比亚卡利两所综合癌症中心的真实世界性非常见病多血症 vera 分析
Maria Alejandra Urbano,Audrey T Martínez-Caicedo,Humberto Alejandro Nati-Castillo et al.
Maria Alejandra Urbano et al.
Background: Polycythemia vera (PV) is a chronic myeloproliferative neoplasm characterized by the clonal proliferation of hematopoietic stem cells, primarily driven by JAK2 mutations. Even though there are established diag...
Sickle Cell Disease: Can genetic variability influence pregnancy outcomes? [0.03%]
镰形红细胞性疾病：遗传变异会影响妊娠结局吗？
Catarina Ginete,Carolina Cruz,Mariana Delgadinho et al.
Catarina Ginete et al.
Pregnancy in Sickle Cell Disease (SCD), a severe hereditary genetic condition, highly prevalent in Sub-Saharan African countries, is associated with increased risk of complications and severe outcomes in pregnancy, like intrauterine growth ...
Analysis of B cell dynamic changes and pivotal drivers based on single-cell transcriptome of peripheral blood in sepsis [0.03%]
基于外周血单细胞转录组的脓毒症B淋巴细胞动态变化及关键驱动因素分析
Xiuming Zhuo,Gangren Jian,Hongyi Chen
Xiuming Zhuo
Background: Sepsis mortality stems from infection-triggered immune dysregulation, causing multiple organ dysfunction. B cells, key to adaptive immunity, protect against infection and regulate inflammation through antibodi...
Clinical and molecular characterization of Hb Coimbra [HBB: c.300T>A p.(Asp100Glu)] in a three-generation Italian family: From diagnostic pitfalls to vascular risk [0.03%]
科英布ра血红蛋白[HBB:c.300T>A p.(Asp100Glu)]的临床和分子特征：来自意大利一家三代人的研究从诊断陷阱到血管风险评估
Francesco Pezzoli,Elena Chiocca,Annalisa Tondo et al.
Francesco Pezzoli et al.
Background: High oxygen-affinity hemoglobin (HOAH) variants are rare causes of familial secondary erythrocytosis. Hb Coimbra [HBB: c.300T>A p.(Asp100Glu)] is a rare variant that can mimic β-thalassemia traits on HPLC, le...