Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders.Clinical manifestations can be hermaphroditism,pseudo-precocious puberty or acute infant adrenal crisis.The wide range of CAH symptom spectrums may lead to miss or misdiagnosis in those who had atypical clinical features.The common forms of CAH are caused by deficiency in 21-hydroxylase enzymes,11 β-hydroxylase,3β-steroid dehydrogenase,17α-hydroxylase and so on,while the most common form of CAH is 21-Hydroxylase deficiency (＞ 90％).The basic principal clinical management of CAH is lifelong therapy using corticosteroids.This paper review and summarize the recent progress on the diagnosis,principles of treatment and long-term prognosis of CAH.

Congenital Hyperinsulinism ; diagnosis ; therapy ; Humans

China ; Disease Management ; Humans ; Prader-Willi Syndrome ; diagnosis ; therapy

Objective To investigate the effect of human growth hormone antagonist (GHA) on diabetic nephropathy in mice. Methods Thirty nine C57BL male mice were divided into five groups: normal control, diabetic control, two GHA diabetic mice groups, human growth hormone (hGH) diabetic group. Diabetic mice were induced with Streptozotocin. hGH, GHA1 〔del(1 4), G120R, K168A, E174A, C182S, del(186 191) Cys 1〕 and GHA2 〔H21A, G120R, E174A〕, were respectively administered subcutaneously to diabetic mice for eleven weeks, the effects of them on body weight, urinary protein excretion and renal morphology in mice of all groups were observed. Results All diabetic mice showed growth retardation including hGH and GH antagonist groups when comparing with their nondiabetic mice. The results of kidney histology showed a significant increase in glomerular area 〔hGH:(4289?798)?m 2, DM:(4226?894)?m 2,GHA1:(3511?717)?m 2, GHA2:(3428?919)?m 2, Normal control:(3399?573)?m 2〕 and cell proliferation (hGH:37.4?5.5, DM:34.5?6.4, GHA1:31.1?6.5, GHA2:29.2?6.5, Normal control:29.0?6.0) in hGH and DM control groups compared with two GH antagonist groups and normal control group, but the expansion of mesangial area with increased extracellualar matrix existed in all diabetic mice, no significant difference was observed among diabetic groups. No statistical difference was found among diabetic groups in urinary protein excretion. Conclusion hGH may aggravate glomerular hypertrophy and mesangial cell proliferation in diabetic mice, and hGH antagonists are effective in preventing diabetic mice glomerular hypertrophy, mesangial cell proliferation and maintaining integrity of kidney normal morphology in diabetic mice.

Objective To study the expression and clinical significance of phosphorylated AKT (pAKT) and phosphatase and tensin homolog (PTEN) in colorectal carcinoma tissues.Methods The expression of pAKT and PTEN were detected by immunohistochemical SP method in 112 case of colorectal carcinomas tissue.Results The positive rates of pAKT and PTEN expression were 79.5 ％ (89/112) and 47.3 ％ (53/112) in colorectal cancerous tissues,respectively,which showed a statistically significance when compared with those in adjacent normal and adenoma tissues.The positive rate of pAKT expression was closely related with the invasive depth,clinical staging and lymph node metastasis of colorectal carcinomas.The positive expression of PTEN was also closely related with the invasive depth,degree of differentiation,clinical staging and lymph node metastasis of colorectal carcinomas.The expressions of pAKT and PTEN were negative correlaed.Conclusion The results showed that the expression of pAKT and PTEN were closely related with progression and metastasis of colorectal carcinomas,which may provide a new therapeutic target for colorectal carcinomas by blocking PTEN/PI3K/AKT signaling pathway.

Objective To explore the layers of the facial and angular arteries between the orbital notch and the antegonial notch.Methods Anatomical studies were performed on 5 cases of adult cadavers (10 sides).Parallel lines were drawn on each cadaver through the position of the orbital incise,inner canthus,above of wing nose,nasal wing point,mouth angle,anterior incise.When the region of the arterial level changes,the parallel lines could be temporarily divided.The levels of the arteries that appeared on every horizontal line were recorded.Results The surface artery between the orbital notch (including the supraorbital notch) and the inner canthus (including the inner cantholes) was mainly in the orbicularis muscle layer.In the middle of the inner canthus and the highest point of the nasal wing,1/3 of the arteries were mainly walking in the orbicularis orbicularis muscular layer,and the next 1/3 were mainly located in the superficial layer or subcutaneous fat layer of the orbicularis oculi muscle.The highest point of the nose wing was found in the middle of the subcutaneous fat.The main line between the top of the nose and the lower part of the nose was deep in the subcutaneous fat.At the bottom of the nose,the main line was located in the fat layer of the zygomaticus,the zygomaticus maximus.In the middle and upper part of the nose and the middle of the mouth,a third of the main lines were walking in the lower fat layer (from shallow to deep) under the zygomaticus,and the next 1/3 segment was found in the subcutaneous fat deep.On the outside of the corner of the mouth,the main line was walking the subcutaneous fat layer or the lower fat layer of the platysma.Conclusions This study preliminarily clarifies the walking level of the facial artery from the upper orbital notch and the anterior notch of the angle.Bearing in mind the depth and the location of the vasculature within each zone,clinical practitioners can tailor their injection techniques to prevent vessel injury and avoid cannulation.

Fourteen neonatal diabetes mellitus(NDM)patients were recruited. 9 patients were treated with glyburide and the other 5 with insulin. ABCC8, KCNJ11, and INS genes were sequenced in 6 of them. Gene mutations were found in 2, 1, and 1 cases in these genes, respectively. One case with 6q24 hypomethylation and another without known mutation were also found. 8 out of 9 patients treated with glyburide reached euglycemia(88.9%). The other 5 patients with insulin therapy either died or lost contact. The results suggest that glyburide therapy is effective in neonatal diabetes mellitus, while insulin therapy may contribute to poor compliance.

OBJECTIVETo survey the current status of pubertal development of Chinese children and to compare the precocious puberty prevalence of different regions.

METHODSA cross-sectional epidemiological study was conducted on 18 707 children and adolescents aged 6≊18 y with male/female ratio of 9 812/8 895 from 6 representative geographical areas in China, including Beijing, Tianjin, Hangzhou, Shanghai, Chongqing and Nanning. The height, weight, waist circumference (WC), hip circumference(HC) and sexual maturation states (Tanner stages: breast stages for girls and testicular volume for boys) of children and adolescents were measured. Probit analysis was used to calculate the median age and 95% confidence interval (CI) for onset of breast and testicular development. The prevalence of precocious puberty of different regions and BMI, waist circumference of different groups were compared.

RESULTSBreast development before 8 y was observed in 2.91% of girls, and testicular volume 4 ml or more before 9 y was observed in 1.74% of boys. The median age of onset of Tanner stages 2 for breast development in girls was 9.69 y (95% CI: 9.63≊ 9.75); the median age of onset of puberty as indicated by Tanner stages 2 for testicular development in boys was 11.25 y (95%CI:11.19≊ 11.30). The prevalence of precocious puberty (43 girls and 37 boys) was 0.43% (80/18 707). The prevalence of precocious puberty in northern region was higher than that in southwest region (0.736% compared with 0.282% P<0.05). There was no difference in onset age of precocious puberty in girls among three regions; but the onset age of precocious puberty in boys was earlier in east China [(7.4±0.28)y]. The SD values of BMI and waist-to-hip ratio (W/H) in precocious puberty children were higher than those in the peer normal children. There was no difference in BMI,waist circumference and waist-to-hip ratio in the precocious puberty children among different regions.

CONCLUSIONThe current diagnostic criteria of precocious puberty are suitable for the children in the survey areas. The prevalence and the onset age of precocious puberty are various in different regions. A positive association between obesity and precocious puberty is found both in boys and girls.

Adolescent ; Age of Onset ; Child ; China ; epidemiology ; Cross-Sectional Studies ; Female ; Humans ; Male ; Obesity ; complications ; Prevalence ; Puberty, Precocious ; complications ; diagnosis ; epidemiology ; Sexual Development

In recent years，the prevalence of childhood obesity has increased rapidly，and obesity can seriously affect physical and mental health of children and adolescents，and is likely to extend into adulthood. The onset and development of childhood obesity is related to multiple factors such as genetic predisposition and environment. So far，more and more studies have found that the gut microbiota，as an important part of the internal environment，is closely related to childhood obesity. Perturbed gut microbiota and its derived metabolites such as short-chain fatty acids，bile acids，indole and their derivatives are widely involved in the onset and development of childhood obesity. At present，regulating the compositions and function of gut microbiota through probiotics and prebiotics，fecal microbiota transplantation，dietary intervention，and bariatric surgery is a new direction for the prevention and treatment of obesity. This paper reviews the research progress on the association between gut microbiota and childhood obesity，in order to provide novel insights for prevention and intervention of childhood obesity based on gut microbiota.

Objective: To observe the clinical effects of the Joint Active System on the treatment of joint dysfunction after deep burn. Methods: Twenty-two patients with joint dysfunction after deep burn were hospitalized in Institute of Burns of Tongren Hospital of Wuhan University & Wuhan Third Hospital from January 2015 to October 2016, involving 18 elbow joints with flexion disorder, 10 wrist joints with dorsal extension disorder, and 12 ankle joints with dorsal extension disorder. They were treated with the elbow joint activity training device, the wrist joint activity training device, and the ankle joint activity training device of the Joint Active System, respectively. The treatment was carried out 3 times each day with interval of 6 h, 30 minutes each time, and it lasted for four to seven months, with one month as a course of treatment. Before treatment and 1, 2, 3, 4 month (s) after, active motion range of each joint was measured by joint goniometer. Function improvement of each joint was evaluated, and the total effective ratio was calculated 4 months after treatment. Satisfaction degree of patients was assessed by the modified Likert Scale 1, 2, 3, 4 month (s) after treatment. Data were processed with one-way analysis of variance for repeated measurement and LSD test. Results: Before treatment and 1, 2, 3, 4 month (s) after, flexion active motion range of elbow joints were (61±23), (78±22), (89±20), (96±20), and (103±19)°; dorsal extension active motion range of wrist joints were (23±7), (31±6), (38±9), (44±5), and (49±8)°; dorsal extension active motion range of ankle joints were (-31±12), (-23±10), (-16±7), (-12±6), and (-8±4)°, respectively. The active motion range of each joint was obviously higher 1, 2, 3, 4 month (s) after treatment than the previous time point of the same joint (with P values below 0.01). Four months after treatment, the total effective ratios of function improvement of elbow joints, wrist joints, and ankle joints were 5/6, 9/10, and 2/3, respectively. Scores of satisfaction degree of the patients 1, 2, 3, 4 month (s) after treatment were (1.3±0.7), (2.2±1.0), (2.8±0.8), and (3.3±0.6) points, respectively. Scores of satisfaction degree of the patients were obviously higher 2, 3, 4 months after treatment than the previous time point (with P values below 0.05). Conclusions Joint Active System can improve the active range of motion of each joint obviously in treating joint dysfunction after deep burn, with total effective ratio of function improvement of each joint surpassing 0.66, and the majority of patients are quite satisfied with the curative effects.