AIM: To investigate the preparation and parameter of pellets of traditional Chinese medicine in order to solve the problem of preparation of pellets of traditional Chinese medicine. METHODS: We took centrifugal spray method to prepare the pellets, and compared effect of spray coating and fluidzed bed coating on the quality of pellets. RESULTS: The best preparation of pellets was determined as followed. The frequency of turntable was 45 HZ, the flow rate of liquid was 1.2 g/min. the relative density of liquid was 1.20 g/cm 3; when coating weigh reached 14%, the better pellets could be obtained. CONCLUSION: The need of the assistant matter of taking spray pellets and film coating was less and roboticized. It accorded with the answer of GMP and the regular production of the preparation of pellets of traditional Chinese medicine.

OBJECTIVE: To explore the genetic basis for a child with multiple malformations. METHODS: A child who had presented at Shanxi Provincial Children's Hospital in February 2021 was selected as the study subject. Clinical data of the patient was collected, and whole exome sequencing (WES) was carried out to screen pathogenic variants associated with the phenotype. Candidate variant was validated by Sanger sequencing of her family members. RESULTS: The child had normal skin, but right ear defect, hemivertebral deformity, ventricular septal defect, arterial duct and patent foramen ovale, and separation of collecting system of the left kidney. Cranial MRI showed irregular enlargement of bilateral ventricles and widening of the distance between the cerebral cortex and temporal meninges. Genetic testing revealed that she has harbored a heterozygous variant of NM_178014.4: c.217A>G (p.Met73Val) in the TUBB gene, which was unreported previously and predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). The child was diagnosed with Complex cortical dysplasia with other brain malformations 6 (CDCBM6). CONCLUSION CDCBM is a rare and serious disease with great genetic heterogeneity, and CDCBM6 caused by mutations of the TUBB gene is even rarer. Above finding has enriched the variant and phenotypic spectrum of the TUBB gene, and provided important reference for summarizing the genotype-phenotype correlation of the CDCBM6.
Humans ; Child ; Female ; Abnormalities, Multiple ; Blood Group Antigens ; Family ; Malformations of Cortical Development/genetics* ; Brain ; Mutation