[Exercise-induced hyperinsulinism: genetic basis and clinical management] [0.03%]
运动诱发性高胰岛素血症的遗传基础与临床处理对策
Qi-Ting Zhang,Ling Hou
Qi-Ting Zhang
Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transport...
[Research progress on toxic shock syndrome due to group A Streptococcus infection in children] [0.03%]
儿童A群链球菌感染中毒性休克综合征研究进展
Hong-Yu Wang,Wei Zhou,Li-Su Huang
Hong-Yu Wang
Streptococcal toxic shock syndrome in children is a severe complication of group A Streptococcus infection, characterized by acute shock and multiple organ dysfunction. It is a critical illness with high mortality, and early diagnosis and t...
[Resistance to thyroid hormone syndrome with developmental disorders in two children] [0.03%]
两例甲状腺激素抵抗综合征并发发育障碍患者的临床特点分析
Lin-Ying Liao,Xing-Fang Li,Xing-Xing Zhang
Lin-Ying Liao
Patient 1, a 4-year-old boy, presented with delayed language development. Persistently elevated free triiodothyronine (FT3) and free thyroxine (FT4) were found, with normal or elevated thyroid-stimulating hormone (TSH). A de novo heterozygo...
[Neonatal-onset multisystem inflammatory disease in a neonate caused by a de novoNLRP3 variant] [0.03%]
新生婴儿因NLRP3新发突变引起的新生儿期 onset 多系统炎症性疾病病例报告
Fu-Hua Gao,Zhong-Feng Tang,Jia-Wei Song et al.
Fu-Hua Gao et al.
A 16-day-old male infant was hospitalized because of recurrent fever with rash for 14 days, unresponsive to anti-infective therapy. Clinical features included persistently elevated inflammatory markers, multisystem involvement (skin, nervou...
[A case report of primary hypomagnesemia with secondary hypocalcemia caused by TRPM6 gene variants] [0.03%]
TRPM6基因变异导致的原发性低镁血症合并继发性低钙血症1例报告
Mei-Yu Zhou,Xing-Jia Tang,Shao-Xin Lin et al.
Mei-Yu Zhou et al.
A 26-day-old male infant presented with recurrent convulsions from 18 days of life. Laboratory investigations revealed severe hypomagnesemia (0.07 mmol/L) and hypocalcemia (1.65 mmol/L). Whole-exome sequencing was performed and identified c...
[Effects of miR-100-5p on proliferation and apoptosis of acute myeloid leukemia cells and the underlying molecular mechanism] [0.03%]
[miR-100-5p对急性髓系白血病细胞增殖及凋亡的影响及其分子机制]
Xiao-Ru Fan,Ying Yang,Yin Sun et al.
Xiao-Ru Fan et al.
Objectives: To investigate whether miR-100-5p regulates the proliferation and apoptosis of acute myeloid leukemia (AML) cells by targeting Tribbles pseudokinase 1 (TRIB1). ...
[Analysis of induction therapy response in children with high-risk neuroblastoma] [0.03%]
高危神经母细胞瘤诱导治疗的反应分析
Yu Wang,Ting Zhang,Can Huang et al.
Yu Wang et al.
Objectives: To investigate the correlation between induction therapy response and prognosis in children with high-risk neuroblastoma, and to analyze factors associated with the induction therapy response. ...
[Clinical characteristics and prognostic analysis of pediatric acute myeloid leukemia with -7/7q- abnormalities] [0.03%]
儿童-7/7q-染色体异常急性髓系白血病的临床特征和预后分析
Fang-Yuan Zheng,Miao Wang,Ming-Ming Ding et al.
Fang-Yuan Zheng et al.
Objectives: To explore the clinical characteristics and prognostic factors of pediatric acute myeloid leukemia (AML) with monosomy 7 (-7) and deletion of the long arm of chromosome 7 (7q-). ...
[Clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia in children] [0.03%]
儿童DUX4-IGH融合基因B细胞急性淋巴细胞白血病的临床特征分析
Yu-Xuan Luo,Hua Jiang,Jia-Yi Wang et al.
Yu-Xuan Luo et al.
Objectives: To study the clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia (B-ALL) in children in order to inform the diagnosis and treatment of this subtype. ...
[Clinical characteristics of pediatric patients with acute lymphoblastic leukemia admitted to the pediatric intensive care unit] [0.03%]
急性淋巴细胞白血病患儿重症监护病房临床特点分析
Fei-Feng Wu,Jue-Yi Mao,Wu-Qing Wan et al.
Fei-Feng Wu et al.
Objectives: To investigate risk factors for pediatric intensive care unit (PICU) admission among children with acute lymphoblastic leukemia (ALL) and risk factors for receipt of life-sustaining therapy (LST) in the PICU. ...