Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32).

Background: Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerging genetic tests are helpful in identifying these genetic causes.

[Effect of hemin on the lung development and pulmonary arterial structural remodeling in congenital diaphragmatic hernia: experiment with rats].

Objective: To assay the effects of prenatal hemin therapy on pulmonary hypoplasia (PH) and pulmonary arterial structural remodeling in congenital diaphragmatic hernia (CDH).

Methods: Six pregnant female SD rats were randomly divided into 3 equal groups: control group, undergoing gastric perfusion of olive oil once on day 9.5 and intraperitoneal injection of normal saline on days 11-14; CDH group, undergoing gastric perfusion of nitrofen 125 mg once on day 9.