Type 1 diabetes mellitus(T1DM)is a chronic, immune-mediated disease characterised by the destruction of insulin-producing cells.The specific pathogenesis of T1DM has not been clarified.It is mainly believed that the occurrence of T1DM is caused by the joint action of genetic and environmental factors.The occurrence, development, treatment and prevention of T1DM are urgent problems to be solved.A number of studies have found that vitamin D is involved in the pathological process of many autoimmune diseases and is related to cell proliferation, differentiation, apoptosis and other mechanisms.Vitamin D may play a key role in the pathological mechanism of T1DM.Here we review the relationship between the incidence, prevention and treatment of T1DM and vitamin D.

The clinical data of a case of Weave syndrome admitted in the Department of Endocrinology, Children′s Hospital of Nanjing Medical University in October 2018 were retrospectively analyzed.The patient was a 9 years and 2 months old girl, who was hospitalized because of " growing too fast for 9 years" . After birth, the child is found to grow fast and have mental retardation, slurred speech, a blurred vision, a long face, a protruding forehead, ocular hypertelorism, epicanthus, nasal bridge pit, finger pads on both hands and feet, uncoordinated gaits, and intoeingpigeon toes.A novel heterozygous c. 1720A>G (p.K574E) mutation was detected in the exon 15 of the EZH2 gene of the patient.This mutation has not been reported at home and overseas.Sanger sequencing revealed that the patient′s parents did not carry the mutation.The disease is an autosomal dominant genetic disorder, and the parents and sibling of the patient have no corresponding symptoms, so it is inferred that the mutation is spontaneous.Based on the peculiarity of the face, clinical manifestations and the results of molecular genetics, the child was diagnosed as Weaver syndrome.

Low shear stress is a component of the tumor microenvironment in vivo and plays a key role in regulating cancer cell migration and invasion. The integrin, as a mechano-sensors mediating and integrating mechanical and chemical signals, induce the adhesion between cells and extracellular matrix (ECM). The purpose of this study is to investigate the effect of low shear stress (1.4 dyn/cm2)on the migration of HepG2 cells and the expression of integrin. Scratch wound migration assay was performed to examine the effect of low shear stress on the migration of HepG2 cells at 0 h, 1 h, 2 h and 4 h, respectively. F-actin staining was used to detect the expression of F-actin in HepG2 cells treated with low shear stress at 2 h and 4 h. Western blot analysis was carried out to determine the effect of low shear stress on the expression of integrin at different durations. The results showed that the migrated distance of HepG2 cells and the expression of F-actin increased significantly compared with the controls. The integrin alpha subunits showed a different time-dependent expression, suggesting that various subunits of integrin exhibit different effects in low shear stress regulating cancer cells migration.
Actins ; physiology ; Cell Movement ; Extracellular Matrix ; physiology ; Hep G2 Cells ; Humans ; Integrins ; physiology ; Stress, Mechanical

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ObjectiveThe aim of this study is to analyze the etiology and status of bone age of children with short stat-ure.MethodsAnthropological and physical examination data were retrospectively collected and studied in 2132 children with short stature in the department of endocrinology between 2009 and 2014. Growth hormone (GH) levels were determined by ar-ginine-clonidine test. Bone age was determined by CHN scoring.ResultsAmong the 2132 patients, 1333 were males and 799 were females. Mean age is 9.03 ± 3.04 years old, mean bone age is 6.81 ± 3.05 years. Of them, 324 cases (15.2%) were diagnosed complete GH deifciency, 780 cases (36.59%) were partial GH deifciency, 27cases (1.27%) were multiple pituitary hormone de-ifciency, 13 cases (1.64%) were hypothyroidism, 893 cases (41.89%) were idiopathic short stature, 19 cases (0.89%) were small for gestational age (SGA), 40 cases (1.88%) were chromosomal disorders, etc. Signiifcant difference in age and bone age was found using t test (P<0.05). Signiifcant differences in Δage were found between etiological categories using ANOVA (P=0.000). Δage was signiifcantly and negatively associated with peak GH using Pearson's correlation.ConclusionsGH deifciency is the most common cause of short stature. Bone age of children with short stature is commonly delayed. Δage was signiifcantly and negatively associated with peak GH. Multiple pituitary hormone deifciency has a signiifcant effect on bone age. The etiology of patients with short stature cannot be determined just by bone age.

Objective To clarify the protective effect of nrsodeoxycholic acid ( UDCA ) on endoplasmic reticulum stress-mediated apoptosis in pancreatic β-cell of streptozotocin ( STZ )-induced diabetic rats.Methods Rats( n =40) received a single injection STZ( 50 mg/kg) intra-peritoneally and formed a β-cell injury model.Weight-matched normal rats( the control group,n =10 ) were injected with the buffer alone.STZ-treated rats with persistent random blood glucose higher than 16.7 mmol/L for 1 week were considered as diabetic status( n=14 ),then divided randomly into STZ-induced diabetes mellitus ( DM ) group ( n =7 ) and UDCA-treated DM group ( n =7 ).UDCA (40 mg· kg- 1,d-1 ) was administered daily by intragastric intubations throughout the experimental period (30 d).During the entire experiment,blood glucose in all rats was assessed.By the end of the experiment,all rats were sacrificed with the pancreas removed and the blood sample collected immediately.Fasting insulin levels were assayed by radioimmunoassay.The morphological changes of pancreatic β-cells apoptosis were determined by TUNEL assay.RNA in pancreas was abstracted and microarray containing 89 pieces of apoptosis related genes was applied.The related gene expressions were detected by RT-PCR and Western blot.Results The concentration of blood glucose in diabetic rats was gradually decreased after UDCA treatment,but at the end of the experiment it was still higher than that in the normal control group.The treatment with UDCA raised the fasting insulin level in diabetic rats,but this concentration was significantly lower as compared to the control group.Based on TUNEL stained tissue sections,the percentage of β-cell apoptosis of UDCA-treated DM group was significantly lower than that of STZ-induced diabetic group(P＜0.05 ).Among 89 genes,42 genes up-regulated and 46 genes down-regulated in diabetic rats,some of which were ameliorated by UDCA treatment.The expressions of Caspase-3,Bax,Bip,and CHOP mRNA in pancreas of DM group were significantly up-regulated as compared with those in the control group ( P ＜ 0.05 ) ; while the expression of Bcl-2 mRNA was markedly down-regulated (P＜0.05 ).However,these parameters in the U DCA-treated animals showed a marked improvement.Conclusion Ursodeoxycholic acid seems to protect pancreatic β-cell from apoptosis in STZ-induced diabetes by attenuating the severity of endoplasmic reticulum stress.

Objective: To explore the indoor air quality of Harbin and its suburbs, and analyze the influence of indoor air quality on the pulmonary function indexes of schoolchildren, and to provide a reference for preventing the related respiratory diseases. Methods: The concentration of CO 2, formaldehyde, benzene, PM 10 and total bacterial count in indoor of 80 residents in Harbin and its suburb were monitored. The IAAH model was used to evaluate the indoor air quality, and the correlation between the indoor air quality and the pulmonary function indexes of schoolchildren was analyzed. Results: The levels of indoor air pollutant in suburb was higher than that in the urban of Harbin, and the concentration of CO 2, PM 10 and total bacteria count in the suburb of Harbin increase significantly during the heating season(t=5.86，4.92，21.16, P<0.05). Among the 40 households monitored by IAAH model in suburb during heating season, 37.5% had moderate air pollution, and 20.0% had severe air pollution. The IAAH was correlated with FVC, FEF75% and FEF25% after excluding the confounding factors by multiple linear regression(β=-0.17, -0.34, -0.43, P<0.05). Conclusion Indoor air pollution is very serious in the suburb of Harbin during heating season, which should be paid attention to by parents to prevent related respiratory diseases of schoolchildren.

OBJECTIVE: To explore the genetic basis for a sib pair featuring 17beta-hydroxysteroid dehydrogenase type 3 deficiency. METHODS: Genomic DNA was extracted from the proband, her sister, and their parents, and was subjected to sequencing analysis with a gene panel for sexual development. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both the proband and her sister were found to harbor novel compound heterozygous missense variants of the HSD17B3 gene, namely c.839T>C (p.Leu280Pro) and c.239G>T (p.Arg80Leu), which were derived respectively from their mother and father. The variants were unreported previously and predicted to be deleterious by PolyPhen2, MutationTaster and other online software. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.839T>C(p.Leu280Pro) and c.239G>T (p.Arg80Leu) were predicted to be likely pathogenic (PM2+PP1+PP2+PP3+PP4, PM2+PM5+PP1+PP2+PP3+PP4). CONCLUSION The compound heterogeneous variants of the HSD17B3 gene probably underlay the disease in this sib pair. 17beta-hydroxysteroid dehydrogenase type 3 deficiency may lack specific clinical features and laboratory index, genetic testing can facilitate a definitive diagnosis.
17-Hydroxysteroid Dehydrogenases/genetics* ; Female ; Genetic Testing ; Genomics ; Humans ; Mutation ; Mutation, Missense

Non-alcoholic fatty liver disease(NAFLD)refers to a wide spectrum of liver diseases ranging from simple fatty liver to non-alcoholic steatohepatitis, which in turn can evolve into cirrhosis and end stage of liver disease.With the prevalence of childhood obesity worldwide, obesity and its related complications have become important factors endangering children′s health.As a manifestation of metabolic syndrome in the liver, NAFLD has become one of the most common liver diseases in children.Its occurrence and development may be the result of genetic susceptibility, genetic polymorphism, obesity, insulin resistance, cytokines, intestinal flora imbalance and other factors.Current treatments for NAFLD include lifestyle changes, medications, and surgery.This article reviews the epidemic trend, possible pathogenesis and treatment progress of NAFLD in children.

Objective: To understand the drinking water quality of rural schools in Harbin in the past five years. Methods: According to the requirements of Harbin municipal drinking water sanitation monitoring program, rural schools were monitored for drinking water in dry and wet periods, water quality was tested according to the standard test method for drinking water (GB/T 5750—2006), and water quality was evaluated according to the standard for drinking water (GB 5749—2006). Results: A total of 320 water samples were tested from 2014 to 2018, and the qualified rate was 75.63% in 5 years, which showed an increasing trend( χ 2=10.81, P <0.05). The qualified rate of drinking water in treated rural schools (79.41%) was higher than that in untreated rural schools(68.97%)( χ 2=4.38, P <0.05). Conclusion The drinking water sanitation of rural schools in Harbin is not optimistic. Supervision and monitoring of drinking water in rural schools, construction and management of treatment and disinfection facilities should be strengthened to ensure the safety of drinking water for teachers and students.