Mutations in K ATP channel genes and congenital hyperinsulinemic hypoglycemia / 国际儿科学杂志

Congenital hyperinsulinemic hypoglycemia(CHH)is a group of rare heterogeneous diseases with hypoglycemia as the main clinical manifestation caused by insulin imbalance and excessive secretion.It is the most common cause of persistent hypoglycemia in infants and children.Related gene mutations were detected in about 40% of patients, among which inactivating mutations in ABCC8 or KCNJ11 genes are the most common.Delay in diagnosis and improper treatment can cause permanent brain damage in infants and children with CHH.Therefore, early identification and correct diagnosis and treatment are important and essential to prevent brain damage in infants and children with CHH.This article reviews the molecular pathogenesis of CHH caused by K ATP gene inactivation mutations, the impact of ABCC8 or KCNJ11 gene mutations on the pathological types of pancreas, the severity of hypoglycemia and the choice of clinical treatment options in children with CHH, as well as the latest progress in clinical diagnosis and treatment of CHH, in order to improve clinicians′ awareness of CHH.

Study progress of aromatase deficiency / 中华实用儿科临床杂志

Human aromatase deficiency is a rare congenital estrogen deprivation syndrome that is caused by loss-of-function mutations in CYP19A1 gene,which encodes aromatase.Now,the structure and tissue expression of CYP19A1 gene,the critical role of aromatase in catalyzing estrogen biosynthesis,and the clinical manifestation,diagnosis and treatment of aromatase deficiency in men as well as in women are reviewed.

Insulin-like growth factor-1 generation test in diagnosis and treatment of short stature / 国际儿科学杂志

Short stature accounts for a large proportion of endocrine diseases in children,with a complex and cross-cutting etiology. It is one of the risk factors for physical and psychological problems in children,and needs proper diagnosis and timely treatment. The insulin-like growth factor-1 ( IGF-1 ) generation test is via re-combinant human growth hormone(rhGH)stimulating peripheral target cells to secrete IGF-1. The effects of rh-GH stimulation are then evaluated according to the responsiveness of IGF-1,which is not only helpful for further determination of clinical classification of short stature,but also for therapy assessment of rhGH in time and a-chievement of personalized treatment.

Hand and wrist bone maturation in children with central precocious puberty and idiopathic short stature / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the maturation of individual bones on the hand and wrist in children with central precocious puberty (CPP) and idiopathic short stature (ISS).</p><p><b>METHODS</b>Hand and wrist films of 25 children with CPP, 29 children with ISS and 21 normal controls were evaluated by conventional Greulich-Pyle (GP) atlas method and individual bone assessment method, in which all twenty bones of the hand and wrist were evaluated based on GP atlas, including 2 radius and ulna, 7 carpal bones, 11 metacarpal and phalangeal bones, the average bone age (BA) was calculated. The differences in groups were analyzed by independent samples t test. The differences between the two methods were analyzed by paired sample t test. The differences between BA and chronological age (CA) were analyzed by ROC with SPSS 17.0.</p><p><b>RESULTS</b>Compared with the normal control group, the advance of BA in the CPP group was 0.70-2.26 y (1.48 ±0.78) by the GP atlas method, while that was 0.28-2.00 y(1.14 ±0.86) by the individual bone evaluation method. In all twenty bones, the advance of metacarpal and phalangeal BA was the greatest [0.34-2.06 y(1.2±0.86)]. In the ISS group,the delay of BA was 0.47-2.91 y(-1.69±1.22) by the GP atlas method, while that was 0.48-2.50 y (-1.49±1.01) by individual bone evaluation method.The delay of carpal BA was the greatest [0.59-2.73 y(-1.66±1.07)] in all twenty bones. In the ISS group and the normal control group, there were no statistic differences between the two methods. In the CPP group, statistic difference was found between two methods. There were no statistic differences for the areas under ROC curves between two methods.</p><p><b>CONCLUSION</b>The advance of metacarpal and phalangeal BA is the greatest in CPP group and the delay of carpal BA is the greatest in ISS group.Both methods provide diagnostic information for bone age in CPP and ISS children.</p>

Moxibustion with Medicine Cake on mRNA Expression of Matrix Metalloproteinases-2, 9 in Artherosclerosis Plaques of Rabbits / 中国康复理论与实践

@#ObjectiveTo observe the effect of moxibustion with medicine cake on mRNA expression of matrix metalloproteinases-2,9 (MMP-2，MMP-9)in artherosclerosis (AS) plaques of rabbits, and to explore the effect of moxibustion with medicine cake to the stability of artherosclerosis plaques of rabbits.MethodsAS rabbit models were established by feeding high-fat diet. 75 New Zealand big-eared rabbits were divided into 5 groups, blank group (blank control group), model group (AS model group), direct moxibustion group (AS model + moxa cone direct moxibustion), moxibustion on medicine cake group (AS model + moxibustion on medicine cake), western medicine group (AS model + atorvastatin), 15 rabbits in each group. Then the mRNA expression of MMP-2, MMP-9 was detected in the atherosclerotic plaques of rabbits with in situ hybridization.ResultsThe expressions of MMP-2, MMP-9 in the atherosclerotic plaques of rabbits were all be controlled in direct moxibustion group, moxibustion on medicine cake group, western medicine group (P<0.01 or P<0.05). The expressions of MMP-2 and MMP-9 in the moxibustion on medicine cake group and western medicine group were obviously lower than those of the direct moxibustion group.ConclusionThe expression of MMP-2, MMP-9 in the atherosclerotic plaques of rabbits can all be controlled in direct moxibustion group, moxibustion on medicine cake group, and western medicine group; as well as the plaques can all be made stable. The efficacy in the moxibustion on medicine cake group and western medicine group is superior to that of the direct moxibustion group.