IMPE Abstracts

Objective: To investigate the characteristics of gut microbiota in children with disparate degrees of adiposity, and analyze the association between gut microbiota, glucose metabolism indicators and inflammatory factors.Methods: Clinical data were examined in 89 Chinese children. Children with body fat (BF)% ≥ 30% were diagnosed as obesity, and ≥ 35% in males and ≥40% in females were further defined as severe ob...

Objectives: To investigate the associations of obesity with growth and puberty in children.Methods: From November 2017 to December 2019, height, weight, and Tanner stages of 26879 children aged 3-18 years in Fuzhou, China were assessed.Results: The obesity group was significantly taller than the non-obesity group after 4 years-old for both genders, yet there was no significant diff...

The relationship between soy isoflavones (SI)-induced gut dysbiosis and puberty onset has not been explored, and the protective effect of probiotic are still controversial. This study investigated the action of SI and probiotic on the age of puberty onset in female c57/bl mice. Changes in the gut microbiota and production of short chain fatty acids (SCFAs) metabolism are highlighted to analyze a possible causative relationship to puberty onset. The results demonstrate that SI ...

Objective: To investigate the clinical and genetic characteristics of Basilicata-Akhtar syndrome caused by MSL3 gene variant.Methods: A retrospective analysis of the clinical data, laboratory examination and gene sequencing results of a child with Basilicata-Akhtar syndrome caused by MSL3 gene mutation was analyzed and summarized in combination with literature.Results:</st...

Objective: To analyze the clinical manifestations and genetic characteristics of X-linked intellectual disability (XLID). Methods: The clinical data of a boy with XLID were retrospectively analyzed. The Clinical and gene mutation characteristics of XLID were summarized by a literature review. The whole exome-sequencing test was used to analyze the gene mutation. The pathogenicity of novel mutations was analyzed and the changes of protein function resulted from...

Background: Aggrecan (encoded by ACAN gene) is a significant proteoglycan that is an important component of the cartilage extracellular matrix, and plays a vital role in cartilage and bone morphogenesis. Pathogenic ACAN gene loss&dash;of&dash;function variants have been associated with various short stature and bone dysplasia.Objective: We observed the clinical and genetic characteristics of fourteen patients with ACAN v...

Background and object: C-type natriuretic peptide (CNP) and its receptor Atrial natriuretic peptide receptor 2 (NPR2) are expressed in the hypertrophic region of the growth plate and are major regulators of endochondral ossification. CNP-NPR2 stimulates the synthesis of chondrocytes and cartilage matrix and promotes growth plate development. Heterozygous loss-of-function variants in NPR2 gene cause short stature with nonspecific skeletal abnormalities (OMIM#61...