Case report: Genotype and phenotype of -related malformations of cortical development: a case report and literature review.

Background: Mutations in the dynein cytoplasmic 1 heavy chain 1 () gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of and review the relevant literature to explore genotype-phenotype relationships.

Case Presentation: A girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy.

Catastrophic health expenditure among single empty-nest elderly with multimorbidity in rural Shandong, China: the effect of co-occurrence of frailty.

Background: Previous studies have indicated that older adults with multimorbidity had higher risk of incurring catastrophic health expenditure (CHE). However, the effect of co-occurrence of frailty on CHE among single empty-nest elderly with multimorbidity remains unclear. This study aims to explore the effect of co-occurrence of frailty on CHE among single empty-nest elderly with multimorbidity, and whether this effect is moderated by economic status.

Clinical features of recurrent Kawasaki disease and its risk factors.

The clinical features and risk factors for recurrence of Kawasaki disease (KD) remain unclear. In order to summarize clinical features of recurrent KD and identify risk factors associated with recurrence, we conducted a retrospective review of the medical records of consecutive cases of KD from January 2002 to December 2010. Demographic, clinical, laboratory, and echocardiographic data were analyzed.

Novel predictors of intravenous immunoglobulin resistance in Chinese children with Kawasaki disease.

Background: The purpose of this study was to develop a predictive scoring system to identify intravenous immunoglobulin resistance in children with Kawasaki disease, to implement additional therapies early in the course of their illness and prevent coronary artery lesions.

Methods: We performed a retrospective review of children with Kawasaki disease treated within 10 days of fever onset. To identify independent predictors of intravenous immunoglobulin resistance, multivariable logistic regression models were constructed using variables selected by univariable analysis.