Two patients with neonatal diabetes tested as V59A and V59M mutations were chosen for the study. Clinical data were analyzed retrospectively. The results showed that the patient with V59A mutation was characteristic of spasm and hyperglycemia at the age of three month, and treated with insulin for a long time as unresponsive to the glibenclamide at the beginning. Myasthenia and delay of development were observed during the follow-up. At the age of two years, glibenclamide was tried for the second time with a high dose and fairly-controlled glucose level. The patient with V59M mutation was diagnosed with diarrhea, hyperglycemia, and ketosis at the age of two month, and was responsive to glibenclamide at a relatively low dose with well-controlled glucose level. These results suggest that KCNJ11 V59M mutation would show some milder clinical manifestations and better glibenclamide efficacy as compared with V59A mutation.

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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.

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.