[Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome].

OBJECTIVE: To explore the clinical characteristics of 1q21.1 microdeletion by using single nucleotide polymorphism microarrays (SNP array). METHODS: Eighteen cases of 1q21.1 microdeletion syndrome diagnosed at the Longgang District Maternal and Child Health Care Hospital of Shenzhen City from June 2017 to December 2022 were selected as the study subjects. Clinical data of the patients were collected. Results of chromosomal karyotyping and SNP assay were retrospectively analyzed. RESULTS: Among the 18 cases with 1q21.1 microdeletions, 13 had a deletion between BP3 and BP4, 4 had a deletion between BP1/BP2 and BP4, whilst 1 had a proximal 1q21.1 deletion (between BP2 and BP3) involving the Thrombocytopenia-absent radius (TAR) region. The deletions had spanned from 360 kb to 3.9 Mb, which encompassed the GJA5, GJA8, CHD1L, RBM8AB and other morbid genes. In three families, the proband child has inherited the same 1q21.1 microdeletion from their parents, whose clinical phenotype was normal or slightly abnormal. The clinical phenotypes of 1q21.1 microdeletion had included cognitive or behavioral deficits in 9 cases (9/18, 50.0%), growth retardation in 8 cases (8/18, 44.4%), craniofacial deformities in 7 cases (7/18, 38.8%), cardiovascular malformations in 5 cases (5/18, 27.8%), and microcephaly in 3 cases (3/18, 16.7%). CONCLUSION: 1q21.1 microdeletion syndrome has incomplete penetrance and varied expression such as intellectual impairment, growth and development delay, and microcephaly, with a wide range of non-specific phenotypes.

Mesoporous bioactive glass combined with graphene oxide scaffolds for bone repair.

Recently there has been an increasing interest in bioactive factors with robust osteogenic ability and angiogenesis function to repair bone defects. However, previously tested factors have not achieved satisfactory results due to low loading doses and a short protein half-life. Finding a validated stable substitute for these growth factors and apply it to the construction of porous scaffolds with the dual function of osteogenesis and angiogenesis is therefore vital for bone tissue regeneration engineering. Graphene oxide (GO) has attracted increasing attention due to its good biocompatibility, osteogenic, and angiogenic functions. This study aims to design a scaffold composed of mesoporous bioactive glasses (MBG) and GO to investigate whether the composite porous scaffold promotes local angiogenesis and bone healing. Our in vitro studies demonstrate that the MBG-GO scaffolds have better cytocompatibility and higher osteogenesis differentiation ability with rat bone marrow mesenchymal stem cells (rBMSCs) than the purely MBG scaffold. Moreover, MBG-GO scaffolds promote vascular ingrowth and, importantly, enhance bone repair at the defect site in a rat cranial defect model. The new bone was fully integrated not only with the periphery but also with the center of the scaffold. From these results, it is believed that the MBG-GO scaffolds possess excellent osteogenic-angiogenic properties which will make them appealing candidates for repairing bone defects. The novelty of this research is to provide a new material to treat bone defects in the clinic.