Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

Background: Zhu-Tokita-Takenouchi-Kim (ZTTK, OMIM 617140) syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, cortical malformations, epilepsy, visual problems, musculoskeletal abnormalities, and congenital malformations. ZTTK syndrome is caused by a heterozygous pathogenic variant of the SON gene (NM_138927) at chromosome 21q22.1.

[Clinical features of intestinal polyps and risk factors for secondary intussusception in children: an analysis of 2 669 cases].

Objectives: To study the clinical features of intestinal polyps and the risk factors for secondary intussusception in children.

Methods: A retrospective analysis was performed for the medical data of 2 669 children with intestinal polyps. According to the presence or absence of secondary intussusception, they were divided into two groups: intussusception (=346) and non-intussusception (=2 323).

Analysis of Risk Factors and Nursing Intervention Measures Affecting Nutritional Status of Children with Crohn's Disease.

In recent years, the incidence of Crohn's disease (CD) in the Asia-Pacific region is gradually increasing, and the onset age is decreased at the same time. The relapse of illness and long course of disease easily lead to malnutrition, which will affect the treatment effect of the disease and even worsen the disease. Therefore, it is very important to find the risk factors affecting the nutritional status of children with CD and to carry out effective nursing intervention accordingly.

Effects of Ziram on Rat and Human 11β-Hydroxysteroid Dehydrogenase Isoforms.

Ziram is a widely used fungicide for crops. Its endocrine disrupting action is largely unknown. 11β-Hydroxysteroid dehydrogenases, isoforms 1 (HSD11B1) and 2 (HSD11B2), have been demonstrated to be the regulators of the local levels of active glucocorticoids, which have broad physiological actions.