Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.

A comprehensive survey was carried out to investigate the genetic etiology of short stature in children by whole exon sequencing of a core family cohort to find and study mutations in multiple genes to assess their potential correlations to low height in children. The study included 56 pediatric patients from the Department of Pediatrics at the Zhangzhou Affiliated Hospital of Fujian Medical University. The participants met strict inclusion criteria, including age, Han Chinese ethnicity, low height standard deviation score, and the absence of known causes for short stature. Core pedigrees were identified using exome sequencing. After sequencing, variations were categorized and interpreted according to a variety of factors, including inheritance, location, type, and disease-causing gene databases. Variants were verified by Sanger sequencing. Most of the 97 gene mutations were missense. ACAN, PHEX, and COL2A1 were the most common gene mutations. Copy number variations were identified, particularly associated with the PHEX gene. Protein functional studies revealed that the mutations had a considerable influence on disease-promoting damage. The chromosomal locations with the highest enrichment of these genes were chr12, chr5, and chr2. In conclusion, the study revealed numerous genetic changes that may substantially impact physiological processes and disease. These findings establish the basis for further investigations into their diagnostic and therapeutic capabilities.

Correlation of serum levels of LH, IGF-1 and leptin in girls with the development of idiopathic central precocious puberty.

BACKGROUND: This paper aims to investigate the correlation between serum levels of luteinizing hormone (LH), insulin-like growth factor-1 (IGF-1) and leptin and the incidence of idiopathic central precocious puberty (ICPP) in girls, and to explore the clinical values in the diagnosis of ICPP. METHODS: A total of 48 girls with ICPP were selected in our hospital from March 2014 to March 2015 to serve as ICPP group. At the same time, 48 girls with the same age distribution were selected as control group. Bone age, body weight, Body Mass Index (BMI) and gender development index of girls in each group were recorded. Levels of LH, IGF-1 and leptin in serum were measured by chemiluminescence immunoassay. The correlations within levels of LH, IGF-1 and leptin, and the correlations between levels of LH, IGF-1 and leptin and body height, body weight and gender development index were analyzed. RESULTS: Levels of LH, IGF-1 and leptin in ICPP group were significantly higher than those in control group (P<0.01). Body weight and BMI of ICPP group were significantly higher than those of control group (P<0.01), and were positively correlated with the expression level of leptin; ovarian volume and thickness of breast of ICPP group were significantly higher than those of control group (P<0.01), and were positively correlated with serum level of LH; serum level of IGF-1 was positively correlated with bone age. Levels of LH, IGF-1 and leptin in serum of ICPP girls were all increased compared with control group. CONCLUSIONS: LH peak value and levels of IGF-1 and leptin in serum can be used as diagnostic indexes of ICPP.

Effect of miR-19b on the protective effect of Exendin-4 on islet cells in non-obese diabetic mice.

This study analyzed the effect of miR-19b on the protective effect of Exendin-4 on islet cells in non-obese diabetic (NOD) mice. Twenty-four NOD/LT mice were randomized, according to the random number table, into a control group (4 µg/kg•day), a low-dose group (2 µg/kg•day Exendin-4), a medium-dose group (4 µg/kg•day Exendin-4) and a high-dose group (8 µg/kg•day Exendin-4) (n=6), with miR-19b expression interfered (an interference group) except for the control group. RT-qPCR was used to detect interference results and different doses of Exendin-4 were given for 8 weeks of intervention after the interference. CD4+ and CD8+ cell levels were detected by flow cytometry, IL-2 and IL-10 levels in the peripheral blood by enzyme-linked immunosorbent assay, and the apoptosis rate of islet cells in the pancreatic tissue by TUNEL. After 4 and 8 weeks of Exendin-4 intervention, mice in the high-dose group had lower blood glucose level than the medium-dose group (P<0.05). The medium-dose group had lower CD4+ cell level than the high-dose group (P<0.05), while the medium-dose group had higher CD8+ cell level than the high-dose group (P<0.05). After 8 weeks of intervention, compared with the medium-dose group, the high-dose group had lower IL-2 level (P<0.05), but higher IL-10 level (P<0.05). After 8 weeks of intervention, the medium-dose group had a higher apoptosis rate than the high-dose group (P<0.05). In conclusion, the decrease in miR-19b expression can improve the therapeutic effect of Exendin-4 on NOD, control blood glucose effectively and improve inflammatory response and immune function, as well as reduce islet cell injury. The increase in the dose of Exendin-4 can further improve its therapeutic effect on NOD.