Maffucci syndrome is characterized by multiple enchondromas and multiple hemangiomas. Here we report on a 24-year-old woman who was diagnosed with Maffucci syndrome. Our report reviews the literature and outlines of the treatment and management plans for patients with this rare and potentially dangerous disease.

This paper reports a case of atypical cholesterol side chain enzyme deficiency caused possibly by CYP11A1p.A359V heterozygous mutation. The patient was diagnosed as congenital adrenal hyperplasia because he was born with gonadal dysplasia and there were manifestations of salt losing and pigment changing, combined with high level of plasma ACTH. Further genetic screening revealed CYP11A1p.A359V heterozygous mutations in patients with a final diagnosis of cholesterol side chain enzyme deficiency which was treated effectively to glucocorticoid.

Objective:To explore associations of subclinical hypothyroidism (SCH) with endocrine metabolic characteristics in women with polycystic ovary syndrome (PCOS).Methods:A total of 321 women who were newly diagnosed as PCOS were recruited from two endocrine outpatient clinics.The diagnosis of PCOS was established according to the 2003 Rotterdam consensus criteria.Thyroid function was examined by chemiluminescent immunoassay.Patients who had normal free thyroxine (FT4) were divided into different SCH subgroups according to two thyroid stimulating hormone (TSH) cutoffpoints (4.2 and 2.5 mU/L).Endocrine metabolic characteristics in different subgroups were compared and analyzed.Results:In PCOS women with normal FT4,the patients with TSH ≥ 4.2 mU/L had higher prolactin (PRL),luteinizing hormone-to-follicle stimulating hormone ratio,and visceral adipose index (all P<0.05).There were trends toward an increase in triglyceride (P=0.085) and a decrease in high-density lipoprotein cholesterol (HDL-C) (P=0.060) in the patients with TSH ≥ 4.2 mU/L compared with that in the patients with TSH<4.2 mU/L.Also in PCOS women with normal FT4,the patients with TSH ≥ 2.5 mU/L had higher body mass index,PRL,triglyceride,visceral adipose index and lower HDL-C in comparison of that in the patients with TSH<2.5 mU/L (all P<0.05).Conclusion:SCH is associated with more severe endocrine abnormality,dyslipidemia,and visceral obesity in PCOS women.PCOS women with normal FT4 and endocrine metabolic characteristics are more prone to be different between the SCH group and the euthyroid group when setting 2.5 mU/L as a TSH cutoff for SCH,indicating that 2.5 mU/L is a good TSH cutoff for SCH in PCOS women.

Objective To evaluate the therapeutic effects of metformin hydrochloride and rosiglitazone maleate tablets on insulin resistance and androgen concentration in obese and nonobese women with polycystic ovarian syndrome (PCOS).Methods Seventy women with PCOS were enrolled into this study according to the diagnostic criteria of Rotterdam conference (2003).The women with PCOS were divided into the over weight/obese group (body mass index ≥ 25 kg/m2,n =34) and the nonobese group (body mass index＜25 kg/m2,n =36).All women with PCOS took metformin hydrochloride and rosiglitazone maleate tablets twice daily for 3 months.The following indexes were measured before and after the treatment:height,weight,waist circumference,hip circumference,fasting plasma glucose,fasting plasma insulin,luteinizing hormone (LH),follicle stimulating hormone (FSH),total testosterone,free testosterone,follicular number and ovarian area,body mass index,waist to hip ratio,and homeostasis model assessment for insulin resistance (HOMA-IR) were calculated.Results (1) Compared with the nonobese group,dramatic increases in HOMA-IR and follicle number were observed in over weight/obese group(P＜0.05),while LH,LH/FSH,total testosterone,free testosterone showed no significant difference between two groups.(2) After the treatment with metformin hydrochloride and rosiglitazone maleate tablets,weight,body mass index,fasting plasma glucose,fasting plasma insulin,HOMA-IR significantly decreased in two groups (P ＜ 0.05).There were also significant declines of LH,LH/FSH,free testosterone,ovarian area,follicular number,especially in the over weight/ obese women with PCOS (P＜0.05),while total testosterone and FSH did not change significantly.(3) The incidence of gastrointestinal adverse reactions in nonobese and over weight/obese group was 9.3％ and 6.3％ respectively,and no liver toxicity,edema,hypoglycemia and other adverse reactions was observed during treatment.Conclusion Compared with the nonobese group,there were severer insulin resistance and more marked polycystic change of ovary in over weight/obese women with PCOS,while total testosterone and free testosterone showed no significant difference between two gruops.Metformin hydrochloride and rosiglitazone maleate tablets can ameliorate insulin resistance and polycystic ovary,and also reduce body mass index and free testosterone in women with PCOS particularly in the over weight/obese individuals.

BACKGROUNDThe effectiveness and safety of initiating biphasic insulin aspart 30 in patients who were poorly controlled on oral glucose-lowering drugs were studied in randomized controlled trials, while results from clinical practice remain limited. This subgroup analysis was to provide such findings from a large-scale non-interventional study.

METHODSA1chieve was a multinational, prospective, open-label, non-interventional, 24-week study in patients with type 2 diabetes initiating insulin analogues in 28 countries across Asia, Africa, Europe, and Latin America. After physician had taken the decision to use this insulin, any patient with type 2 diabetes who was not treated with or who had started the study insulin within 4 weeks before inclusion was eligible. Patients were treated with study insulin alone or in combination with oral glucose-lowering drugs. Data on adverse drug reactions, hypoglycemia and glycemic control were collected at baseline, week 12 and 24. This is a report of a Chinese subgroup analysis from the A1chieve study.

RESULTSTotally, 4 100 patients constituted this subgroup. No serious adverse drug reactions were reported. Rates of total, major, nocturnal hypoglycemic events (events/patient per year) were 1.47, 0.10, 0.31 at baseline and 1.35, 0.00, 0.22 at week 24, respectively. Glycemic control was improved as measured by hemoglobin A1c (mean 9.3% to 7.0%, reduction -2.3%), fasting plasma glucose (mean 10.2 to 6.8 mmol/L, reduction -3.5 mmol/L) and postprandial plasma glucose (mean 14.4 to 8.8 mmol/L, reduction -5.6 mmol/L), all P < 0.001. Change in mean body weight was +0.3 kg (P < 0.001).

CONCLUSIONIn this subgroup analysis of the A1chieve study, biphasic insulin aspart 30 improved glycemic control with low risk of hypoglycemia.

Administration, Oral ; Adult ; Aged ; Biphasic Insulins ; administration & dosage ; adverse effects ; therapeutic use ; Blood Glucose ; drug effects ; Diabetes Mellitus, Type 2 ; blood ; drug therapy ; Female ; Glycated Hemoglobin A ; metabolism ; Humans ; Hypoglycemic Agents ; therapeutic use ; Insulin Aspart ; administration & dosage ; adverse effects ; therapeutic use ; Insulin, Isophane ; administration & dosage ; adverse effects ; therapeutic use ; Male ; Middle Aged ; Prospective Studies

Objective:To observe the effect of blood glucose lfuctuation and the sustained high blood glucose on renal pathological change and collagen IV (Col IV) expression in diabetic rats.
Methods:hTe 60 male Sprague-Dawley (SD) rats were randomly assigned into a normal control group (NC) and a model group (DM). hTe rats in the normal control group were fed with normal diet, while the rats in the model group were fed with high-sucrose-high-fat diet for 6 weeks. Atfer that,streptozocin (STZ, 30 mg/kg) was injected to induce diabetic model. The model group was then randomly divided into 2 subgroups:a sustained high blood glucose group and a fluctuation blood glucose group (animals in the latter group were subcutaneously injected with insulin twice daily). Rats were sacriifced atfer 3 months and kidney tissues were dissected for HE and PAS staining, Col IV immunohistochemistry and Western blot.
Results:Compared with the normal control group, the renal glomeruli and capillary basal membrane in the diabetic rats was getting larger and thicker, respectively;the capsular space and ground substance was extended and increased, respectively;the volume of renal tubule, kidney hypertrophy index, glomeruler sclerosis index and Col IV content were all increased in the diabetic rats (P<0.01). Compared with the sustained high blood glucose group, the above mentioned pathological changes were more serious in the blood glucose lfuctuation group.
Conclusion:The capillary basal membrane of kidney in diabetic rats is thicker and the ground substance is increased. The degree of glomeruler sclerosis is more serious in the blood glucose lfuctuation group compared with the sustained high blood glucose group, which is conifrmed by the increased level of Col IV.

Objective:To analyze the important controllable factors which affect the glycemic control of diabetes.
Methods:A cross-sectional study was carried out to examine the role of relevant characteristics in glycemic control by a sampling investigation of 430 diabetic patients in Hunan, China. A questionnaire was designed for personal interviews to collect data. Univariate regression analysis and multiple linear regression analysis were used to evaluate the effects of various factors on glycated hemoglobin A1c (HbA1c) control.
Results:hTe level of HbA1c in 430 patients was (8.7±2.6)%, and the value in 34%patients among them was ≤7.0%. Base on univariate regression analysis some factors were associated with good HbA1c control, including age, diabetic education, self monitoring of blood glucose, knowledge of blood sugar control standard, living environment, and self-owned glucometer. However, the upgraded treatment was associated with poor control. Based on multiple linear regression analysis, the ifrst four factors mentioned above were protective factors for HbA1c while upgraded treatment was risk factor for HbA1c.
Conclusion:Knowledge of blood sugar control standard, diabetic education and self monitoring of blood glucose are important controllable factors for better glycemic control of diabetes.

Objectives To investigate the effects of glucose on apoptosis rate of cultured endothelial progenitor cells (cEPCs). Methods The peripheral blood of healthy adults was isolated by density gradient centrifugation, and mononuclear cells (MNCs) were inducted to differentiate at cultured conditions.EPCs were identified by Dil-acLDL and FITC-UEA-1 as double fluorescent-positive cells. The effectsof glucose at different concentrations on apoptosis rate of the harvested EPCs were measured by fluorescent microscope and fluorescence-activated cell sorting (FACS) after staining with Annexin V-FITC and PI. Results No significant differences were observed in apoptosis rate between samples treatedwith 5.6mmol/l glucose and 11. 1 mmol/l. P ＞0. 05). 25.5 mmol/L glucose enhanced the EPCsapoptosis rate in a time-dependent manner( P ＜0. 05). Conclusion High concentration glucose can accelerate apoptosis rate of EPCs in a time-dependent manner.

Objective To establish the blood glucose fluctuation diabetic rat model by subcutaneous injecting insulin. Method The male Sprague-Dawley (SD) rats were randomly assigned into two groups, normal group ( n =20) and model group ( n =40). Normal group rats were fed with normal diet, model group rats were fed with a high-sucrose-high-fat diet. After 6 weeks, a low dose of streptozotocin ( STZ ,30mg/kg) was injected to induce hyperglycemia in model group rats. And then the model group rats were ran-dom divided into two subgroups, diabetic group ( n = 20) and blood glucose fluctuation group ( n = 20). Blood glucose fluctuation group rats were induced by subcutaneous injecting insulin twice daily. All rats were executed after intervening for 3 months, metabolic cages were used to collect 24-hour urine one week before all rats were executed. Results The average blood glucose levels (MBG), the standard deviation of daily aver-age blood glucose (SDBG) and the largest amplitude of glycemic excursions (LAGE) were significant differ-ent (P<0. 05) among normal group, diabetic group and blood glucose fluctuation group. The 24 hours, pro-teinuria of diabetic group and blood glucose fluctuation group was higher than that in normal group[( 100. 38±7. 99)mg/24h vs (18. 13±1.41)mg/24h, (123. 71±11.23) mg/24h vs (18.13 ± 1.41 ) mg/24h, P <0.01] , and blood glucose fluctuation group was higher than diabetic group[(123. 71 ± 11.23 )mg/24h vs(100.38±7.99)mg/24h, P <0.05] . Conclusions The blood glucose fluctuation diabetic rats model was successfully induced by the method of subcutaneous insulin injection in diabetic rats twice daily.

Objective To investigate the distribution characteristics of protein tyrosine phosphatase 1B (PTP1B) gene IVS6+G82A and Pro303Pro polymorphisms in Chinese children and determine the effect of PTP1B gene IVS6+G82A and Pro303Pro polymorphisms on the pathogenesis of childhood obesity. Methods A total of 147 Chinese obese and 118 healthy children were randomly selected and enrolled to identify IVS6+G82A and Pro303Pro genotypes by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. Waist circumference (WC), waist to hip ratio (WHR), percentage of body fat (%BF),systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting plasma glucose (FPG), serum triglycerides (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), plasma fasting insulin (FINS), homeostasis model assessment for insulin resistance (HOMA-IR), and plasma leptin were examined. Results The allele frequencies of IVS6+G82A and Pro303Pro were 59.5% and 19.4% in obese children, and 53.4% and 11.0% in healthy children, respectively. There were significant differences in allele frequencies of Pro303Pro polymorphism between the obese and the control group. Pro303Pro polymorphism was associated with body mass index, WC, TG, and LDL C in the obese subjects. There was not di fference in the genotype distributions or allele frequencies of IVS6+G82A polymorphism between the obese and the control group. Further analysis showed no association between the genotypes of IVS6+G82A and clinical characteristics in the obese subjects. The linkage disequilibrium analysis for IVS6+G82A and Pro303Pro (D′: 0.441, r2: 0.027) was weak.Conclusion PTP1B gene Pro303Pro polymorphism might be associated with the pathogenesis of obesity in children and could affect the lipid metabolism in Chinese obese children.