9 Result(s)
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Article
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
Congenital dyserythropoietic anemia type II (CDA II) refers to a group of extremely rare heterozygous disorders characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes and b...
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Article
Open AccessClinical 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...
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Article
Open AccessInitial 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.
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Article
Open AccessNovel 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...
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Article
Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is caused by variants in BRAT1 (BRCA1-associated protein required for ATM activation-1). However, the molecular mechanism of RMFSL is still unclear...
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Open AccessChanges 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...
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Open AccessEarly 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.
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Open AccessNovel 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...
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Article
Open AccessSuccessful 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...
