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Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature

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  1. Article

    Open Access

    Clinical efficacy of sodium bicarbonate in treating pediatric metabolic acidosis with varying level of acid–base balance parameters: a real-world study

    Sodium bicarbonate (SB) infusion is commonly used to correct metabolic acidosis, but its clinical efficacy remains controversial. This study aims to investigate whether acid–base balance parameters should be a...

    Huaqing Liu, Yanmei Cao, **aoyan Xue, Zhenjiang Bai, Shuiyan Wu in BMC Medicine (2023)

  2. Article

    Open Access

    Initial indicators for the prognosis of Acinetobacter Baumannii bacteremia in children

    Risk factors related to mortality due to Acinetobacter baumannii (AB) bacteremia have been unveiled previously, but early clinical manifestations of AB bacteremia based on prognosis remain uncovered.

    Yi Hong, **aochen Lin, Chunxu Zhang, **ngqiang Dong, Meihua Lu in BMC Infectious Diseases (2023)

  3. Article

    Open Access

    Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report

    Combined oxidative phosphorylation deficiency 26 (COXPD26) is an autosomal recessive disorder characterized by early onset, developmental delay, gastrointestinal dysfunction, shortness of breath, exercise into...

    Shuiyan Wu, Weixi Li, Zhenjiang Bai, Saihu Huang, Dao** Yang in BMC Pediatrics (2022)

  4. Article

    Open Access

    Changes in prevalence of nosocomial infection pre- and post-COVID-19 pandemic from a tertiary Hospital in China

    Nosocomial infections (NIs) are an important cause of mortality, and increasing evidence reveals that the prevalence of NIs can be reduced through effective prevention and control measures. The aim of this stu...

    Chunmei Su, Zhiqin Zhang, Xu Zhao, Hanlin Peng, Yi Hong in BMC Infectious Diseases (2021)

  5. Article

    Open Access

    BRD4 PROTAC degrader ARV-825 inhibits T-cell acute lymphoblastic leukemia by targeting 'Undruggable' Myc-pathway genes

    T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive disease with a high risk of induction failure and poor outcomes, with relapse due to drug resistance. Recent studies show that bromodomains and extr...

    Shuiyan Wu, You Jiang, Yi Hong, **nran Chu, Zimu Zhang in Cancer Cell International (2021)

  6. Article

    Open Access

    Early clinical predictors for the prognosis of invasive pneumococcal disease

    Risk factors related to mortality due to invasive pneumococcal disease (IPD) have been unveiled previously, but early clinical manifestations of IPD based on prognosis remain uncovered.

    Shuiyan Wu, Xubei Guo, Zhong Xu, Meilin Han, Lili Huang in BMC Infectious Diseases (2020)

  7. Article

    Open Access

    Withdrawal of treatment in a pediatric intensive care unit at a Children’s Hospital in China: a 10-year retrospective study

    Published data and practice recommendations on end-of-life care generally reflect Western practice frameworks; there are limited data on withdrawal of treatment for children in China.

    Huaqing Liu, Dongni Su, Xubei Guo, Yunhong Dai, **ngqiang Dong in BMC Medical Ethics (2020)

  8. Article

    Open Access

    Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

    POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spa...

    Shuiyan Wu, Zhenjiang Bai, **ngqiang Dong, Dao** Yang, Hongmei Chen in BMC Pediatrics (2019)

  9. Article

    Open Access

    Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy

    Neonatal diabetes mellitus (NDM) is a rare monogenic disorder presenting as uncontrolled hyperglycemia during the first 6 months of life. Hyperglycemic hyperosmolar state (HHS) is quite rare in NDM patients, a...

    Ting Chen, Dandan Zhang, Zhenjiang Bai, Shuiyan Wu, Haiying Wu in Diabetes Therapy (2018)