Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with frontometaphyseal dysplasia 1 (FMD1) due to variant of FLNA gene.@*METHODS@#Clinical phenotype of the patient was analyzed. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. Sanger sequencing was used to verify the result in his parents.@*RESULTS@#The 2-year-and-9-month-old boy presented with facial dysmorphism (supraorbital hyperostosis, down-slanting palpebral fissure and ocular hypertelorism), skeletal deformities (bowed lower limbs, right genu valgum, left genu varus, slight deformity of index and middle fingers, and flexion contracture of little fingers). He also had limited left elbow movement. High-throughput sequencing revealed that he has carried a de novo heterogeneous c.3527G>A (p.Gly1176Glu) missense variant of the FLNA gene. The same variant was found in neither parent.@*CONCLUSION@#The clinical manifestations of FMD1 such as joint contracture and bone dysplasia can occur in infancy and deteriorate with age, and require long-term follow-up and treatment. Above finding has expanded the spectrum of FLNA gene variants.

Umbilicus application with Chinese medicine for chronic diarrhea due to food intolerance in kids：a multicenter randomized trial / 针灸推拿医学（英文版）

Objective: To observe the clinical efficacy of umbilicus application with Chinese medicine in treating children’s chronic diarrhea due to food intolerance and the value of healthy diet education. Methods:Eighty kids with chronic diarrhea due to food intolerance were recruited from multiple centers and divided by using the random number table into a treatment group of 40 cases and a control group of 40 cases. For both groups, based on the level of serum food-specific immunoglobulin G (Ig-G), the patients were given unified diet following the healthy diet guidance: safe, alternate, and forbidden, while the treatment group was additionally given umbilicus application with Chinese medicine. The therapeutic efficacy and symptom score of traditional Chinese medicine (TCM) were observed and compared respectively after 1-week, 2-week, 4-week, and 12-week treatment. Results:The diarrhea symptoms and coupled symptoms scores dropped significantly in the two groups after treatment ( all P<0.05), and the inter-group comparisons also showed statistical significances (P<0.05). The total effective rate was 97.5% in the treatment group versus 77.5% in the control group, and the inter-group difference was statistically significant (P<0.05). Conclusion:The healthy diet guidance based on the food intolerance test is effective in helping treat diarrhea, while umbilicus application with Chinese medicine works better in treating diarrhea for kids with chronic diarrhea due to food intolerance and can significantly enhance the therapeutic efficacy.