[Application of exchange transfusion in neonates with severe pertussis and hyperleukocytosis].

Objectives: To investigate the efficacy and safety of exchange transfusion in neonates with severe pertussis.

Methods: A retrospective analysis was performed for the medical data of five neonates with severe pertussis who underwent exchange transfusion in the Department of Neonatology, Hunan Children's Hospital, from August 2019 to March 2024. The clinical characteristics of the patients were summarized, and the efficacy and adverse reactions of exchange transfusion were analyzed.

Neuropsychiatric disturbance detecting polycythemia vera myelofibrosis: a case report and literature review.

Background: Neuropsychiatric disturbances and chorea are less recognized consequences of polycythemia vera (PV), and their role in post-PV myelofibrosis (MF) has not been reported. Clinical features that predict post-PV MF lack specificity.

Case Presentation: We describe an elderly patient with PV who developed acute-onset reversible neuropsychiatric disturbances accompanied by generalized chorea and was finally diagnosed with post-PV MF after a bone marrow examination.

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

Background: Lipoprotein lipase (LPL) deficiency is a monogenic lipid metabolism disorder biochemically characterized by hypertriglyceridemia (HTG) inherited in an autosomal recessive manner. Neonatal onset LPL deficiency is rare. The purpose of this study was to clarify the clinical features of neonatal LPL deficiency and to analyze the genetic characteristics of LPL gene.

Characteristics of bone metabolism in postmenopausal female patients with different types of idiopathic benign paroxysmal positional vertigo: A single-centre retrospective study.

Objective: The association between benign paroxysmal positional vertigo (BPPV) and impaired calcium metabolism has attracted widespread interest. Several studies have suggested that decreased bone mineral density (BMD) and serum 25-hydroxyvitamin D (25(OH)D) level are related to the occurrence and/or recurrence of BPPV; however, the characteristics of bone metabolism in patients with BPPV subtypes have not been fully investigated, and conclusions have been controversial. This study aimed to evaluate BMD and serum levels of 25(OH)D and bone turnover markers to clarify the characteristics of bone metabolism in patients with different types of BPPV.

[Neurodevelopmental outcomes of extremely low birth weight and very low birth weight infants and related influencing factors].

Objective: To investigate the neurodevelopmental outcomes of extremely low birth weight (ELBW) and very low birth weight (VLBW) infants at a corrected age (CA) of 18 months and related factors influencing the outcomes.

Methods: The ELBW and VLBW infants who were admitted to the neonatal intensive care unit, survived, and discharged between January 2013 June 2014 were enrolled. These infants were followed up at CAs of 40 weeks and 1, 3, 6, 12, and 18 months to evaluate the neurodevelopmental outcomes.

[Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population].

Objective: To assist the establishment of platform and provide the reference standard for mutation detection in spinocerebellar ataxia (SCA) subtypes 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese Han population.

Methods: The nucleotide repeat numbers of the 9 SCA subtypes and DRPLA were detected using fluorescence-PCR and capillary gel electrophoresis technique in 300 healthy Chinese Han individuals.

Results: Among the 300 healthy controls, the range of the CAG trinucleotide repeat number was 17 to 35 in SCA1, 14-28 in SCA2, 13-41 in SCA3/MJD, 4-16 in SCA6, 5-17 in SCA7, 5-21 in SCA12, 23-41 in SCA17, and 12-33 in DRPLA; and the range of CTA/CTG trinucleotide repeat number on SCA8 locus was 12-43 and the range of ATTCT pentanucleotide repeat number on SCA10 locus was 9-32.