Congenital adrenal hyperplasia(CAH)is a family of autosomal recessive disorders caused by the loss or severe decrense in activitv in one of the steroidogenie enzymes involved in cortisol biosynthesis.The cortisol synthetic block leads to corticotropin stimulation of the adrenal cortex.with accumulatiOn of cortisol precursors that are diverted to sex hormone biosynthesis.The most common CAH is 21-OHD due to deficiency of the enzyme 21-hydroxylase.It is distinguished in classical(C-CAH)and non-classical form(NC-CAH),and it is also one of the most eomnon autosomal recessive inherited disorders in human.The goal of therapy in CAH is to replace the missing glucocorticoids and mineralocorticoids,thereby suppressing eorticotropin concentrations and normalizing adrenal androgens, a8 well as to enable normal growth and skeletal maturation.Nonetheless.growth is a key problem in CAH because patients often fail to reach their target height,and the average heights are shorter than the general population,relating both to the underlying disease and its treatment.This paper review the literature on growth and final height outcome,considering the factors related tO diagnosis and treatment which are known to affect height outcome.Current strategies to optimize height outcome are indicated and future treatment strategies as well.

Objective To explore the effects of pelvic nerves denervation (PND) on the expression of transit potential receptor vanilloid 1 (TRPV1) in distal colonic mucosa of rats.Methods The experimental study was conducted.One hundred and eight adult male rats were randomly divided into the control group,sham operation group and PND group:(1) 36 rats in the control group remained untreated and were fed regularly;(2) 36 in the sham operation group received open exclusion for 15 minutes,and then sew up the incision;(3) 36 in the PND group received laparotomy with pelvic nerve transection before abdominal closure.The expression of TRPV1 protein in distal colonic mucosa was respectively detected by Western blot at postoperative day 1,3 and 7.Reverse transcription quantitative real-time polymerase chain reaction (RT-qPCR) was used to detect the mRNA level of TRPV1 in the distal colonic mucosa.Measurement data with normal distribution were represented as (x)±s.Repeated measurement data were analyzed by repeated measures ANOVA.Comparisons at the same time intervals among the 3 groups were analyzed using one-way ANOVA.Pairwise comparison was done by the independent samples t test.Results (1) The results of immunohistochemical staining:the average density of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 was respectively 0.180±0.016,0.179±0.015 and 0.183±0.026 in the control group,with no statistically significant difference (F=0.088,P＞0.05).The average density of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 was respectively 0.132±0.017,0.160±0.023 and 0.173±0.020 in the sham operation group,with a statistically significant difference (F=8.699,P＜0.05).The average density of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 was respectively 0.057± 0.009,0.122±0.016 and 0.180± 0.016 in the PND group,with a statistically significant difference (F =113.315,P ＜ 0.05).There were statistically significant differences in the average density of TRPV1 at postoperative day 1 and 3 among the 3 groups (F =108.960,15.218,P＜ 0.05),while significant differences were respectively detected between the control group and the sham operation group or the PND group at postoperative day 1 (t =5.025,15.979,P＜0.05),and a significant difference was also detected between the sham operation group and the PND group (t =9.590,P＜0.05).There was no statistically significant difference in the average density of TRPV1 between the control group and the sham operation group at postoperative day 3 (t =1.670,P＞0.05),while significant differences were respectively detected between the control group and the PND group and between the sham operation group and the PND group (t=6.543,3.361,P＜0.05).There was no statistically significant difference in the average density of TRPV1 at postoperative day 7 among the 3 groups (F=0.518,P＞0.05).(2) The results of Western blot:the relative expressions of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 were respectively 1.02±0.13,1.00±0.15 and 1.00±0.10 in the control group,with no statistically significant difference (F=0.084,P＞0.05).The relative expressions of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 were respectively 0.51±0.13,0.93±0.14 and 1.01±0.16 in the sham operation group,with a statistically significant difference (F =20.930,P＜0.05).The relative expressions of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 were respectively 0.30±0.10,0.70±0.10 and 1.07±0.16 in the PND group,with a statistically significant difference (F=61.441,P＜0.05).There were statistically significant differences in the relative expressions of TRPV1 at postoperative day 1 and 3 among the 3 group (F=58.014,8.841,P＜0.05),while significant differences were respectively detected between the control group and the sham operation group or the PND group at postoperative day 1 (t =6.677,11.145,P＜0.05),and significant difference was also detected between the sham operation group and the PND group (t =3.287,P＜ 0.05).There was no statistically significant difference in the relative expressions of TRPV1 between the control group and the sham operation group at postoperative day 3 (t =0.798,P＞0.05),while significant differences were respectively detected between the control group and the PND group and between the sham operation group and the PND group (t=4.127,3.398,P＜0.05).There was no statistically significant difference in the relative expressions of TRPV1 at postoperative day 7 among the 3 group (F=0.428,P＞0.05).(3) The results of RTqPCR:the mRNA levels of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 were respectively 1.00±0.15,1.10±0.21 and 1.09±0.18 in the control group,with no statistically significant difference (F=0.489,P＞0.05).The mRNA levels of TRPV1 in distal colonic mueosa at postoperative day 1,3 and 7 were respectively 0.58±0.12,0.99±0.19 and 1.13±0.23 in the shan operation group,with a statistically significant difference (F=13.964,P＜0.05).The mRNA levels of TRPV1 in distal colonic mucosa at postoperative day 1,3 and 7 were respectively 0.31±0.10,0.67±0.12 and 1.09±0.19 in the PND group,with a statistically significant difference (F=44.642,P＜0.05).There were statistically significant differences in the mRNA levels of TRPV1 at postoperative day 1 and 3 among the 3 group (F=44.653,9.700,P＜0.05),while significant differences were respectively detected between the control group and the sham operation group or the PND group at postoperative day 1 (t=5.233,9.264,P＜0.05),and significant difference was also detected between the sham operation group and the PND group (t=4.127,P＜0.05).There was no significant difference in the mRNA levels of TRPV1 between the control group and the sham operation group at postoperative day 3 (t =0.995,P＞0.05),while significant differences were respectively detected between the control group and the PND group and between the sham operation group and the PND group (t =4.411,3.505,P＜0.05).There was no statistically significant difference in the mRNA levels of TRPV1 at postoperative day 7 among the 3 group (F=0.099,P＞0.05).Conclusion The expression of TRPV 1 in distal colonic mucosa of rats is significantly down-regulated after pelvic nerves denervation,however,it is gradually recovered with passage of time,which is consistent with the trend of gradual recovery of colonic transit function after pelvic nerve injury.

Objective To investigate the current distribution of hepatitis C virus (HCV) genotype in Southern China and to understand the HCV transmission and to infer its transmitting trend.Methods The HCV gene subtypes of 3 524 specimens from Southern China were detected and analyzed by polyonerase chain reaction (PCR)-fluorescence probe method or sequencing.The regular nested PCR and sequencing were used for the phylogenetic tree analysis when the fluorescence PCR inefficiently identifying virus isolates.Results Among 3 524 specimens,there were 2 922 cases from Guangdong,78 cases from Fujian,152 cases from Hainan and 372 cases from Guangxi.Genotype 1b comprised the majority (1 808/ 3 524,51.3％),followed by genotype 6a (925/3 524,26.2％),2a (298/3 524,8.46％),3a (246/ 3 524,6.98％),3b (200/3 524,5.68％) and 1a (27/3 524,0.77％).In addition,1 case wasgenotype 6e,1 case was genotype 6q,1 case was genotype 6r,3 case were genotype 6w,2 case were genotype 6xa,2 case were genotype 6n,and 1 case was genotype 6 with unclassified subtype.The genotype 1b accounted for the majority in most areas of 21 cities and counties in Guangdong Province,followed by genotype 6a.But in some areas,the major genotype was genotype 6a,followed by 1b.Genotype 4,genotype 5 and genotype 7 were not found in this study.Conclusions In the past two years,genotype 1b and 6a are still the epidemic genotypes in Guangdong,Guangxi and Hainan provinces.However,genotype 6a has replaced 1b as the dominant one in some areas in Guangdong Province.The distributions of HCV genotypes do not change significantly in Guangxi and Fujian provinces.

Objective To observe the effects of Xin-Gui Gel Plaster(Cinnamomi Cortex,Asari Radix et Rhizoma,Euodiae Fructus,Chuanxiong Rhizoma,Borneolum Syntheticum)on peripheral neuropathy in diabetic rats.Methods A single intraperitoneal injection of 1%streptozotonic(STZ,35 mg·kg-1)was used to replicate a type 2 diabetes mellitus(T2DM)rat model followed by the induction of diabetic peripheral neuropathy(DPN)in combination with a long-term(8 consecutive weeks)high-fat and high-sugar diet.SD rats were randomly divided into normal group,model group,Mecobalamin group and Xin-Gui Gel Plaster group,with 6 rats in each group.The rats in the Xin-Gui Gel Plaster group were given Xin-Gui Gel Plaster at acupoints once a day for 8 weeks;the rats in the Mecobalamin group were given Mecobalamin solution by gavage(0.045 mg·kg-1),and the rats in the normal group and the model group were given physiological saline by gavage.Body mass and fasting blood glucose(FBG)were measured at weeks 2,4,6 and 8;the latency of thermal withdrawal latency(TWL)was measured at weeks 4 and 8;nerve conduction velocities,including motor nerve conduction velocity(MNCV)and sensory nerve conduction velocity(SNCV),were measured at week 8;and serum total cholesterol(TC),triglyceride(TG),fasting blood glucose(FBG)were measured using a fully automated biochemical analyzer.Fasting insulin(FINS)levels were detected by ELISA,and the index of insulin resistance(HOMA-IR)was calculated;and pathological changes in the sciatic nerve tissues of rats were observed by HE staining.Results Compared with the normal group,rats in the model group had significantly lower body mass and FINS levels(P＜0.01),significantly higher levels of FBG,TC,TG and HOMA-IR(P＜0.05,P＜0.01);TWL,MNCV and SNCV were significantly decreased(P＜0.01),and sciatic nerve fibres were disorganized and loosely aligned,with demyelination,axon atrophy and vacuole-like phenomenon.Compared with the model group,there was no significant change in body mass and levels of FBG,TC and TG in the Xin-Gui Gel Plaster group(P＞0.05),FINS level was significantly increased(P＜0.05),and HOMA-IR levels was significantly decreased(P＜0.05);TWL,MNCV and SNCV in the Mecobalamin group and Xin-Gui Gel Plaster group were significantly increased(P＜0.05,P＜0.01),sciatic nerve lesions were improved to different degrees,nerve fibre arrangement was more regular,myelin deficiency and axonal atrophy were significantly improved.Conclusion Xin-Gui Gel Plaster can improve insulin resistance,relieve thermal stimulation sensitivity,improve sciatic nerve conduction velocity to a certain extent in DPN rats,and have a protective effect on peripheral nerves in diabetic rats,but the hypoglycemic and hypolipidemic effects are not obvious.

Objective To explore the effects of self-made traditional Chinese medicine ( TCM ) concentrate for sponge bath and feet bath on postpartum recovery in parturients with cesarean section. Methods A total of 300 parturients with cesarean section were selected as subjects from July 2014 to December 2015 and were randomly divided into three groups including group A ( 100 cases, sponge bath and feet bath with TCM), group B (100 cases, feet bath with warm water), group C (100 cases, without intervention) with informed consent according to bed numbers. We observed the volume of lochia, height of fundus, the time of first flatus, milk yield, sleep quality, length of stay among groups after childbirth. And then, we explored the effects of self-made TCM concentrate for sponge bath and feet bath on postpartum recovery in parturients with cesarean section by comparing indicators among groups.Results The volume of lochia, height of fundus, the time of first flatus, milk yield, sleep quality in group A were better than those in group B and C with significant differences (P<0.05) along with the length of stay in group A 0.5-1 d less than that in group B and C.Conclusions The self-made TCM concentrate for sponge bath and feet bath can reduce the length of stay and contribute to reducing the volume of lochia post partum, promoting the involution of uterus and intestinal peristalsis, increasing the milk yield, improving sleep quality, relieve postoperative pain so as to promote postpartum recovery.

OBJECTIVETo establishment and verify pelvic nerve denervation (PND) model in mice.

METHODS(1) Establishment of models. Seventy-two healthy male SPE class C57 mice with age of 7 weeks and body weight of (25±1) g were chosen. These 72 mice were randomly divided into PND group containing 36 mice and sham operation group containing 36 mice. Referring to the establishment method of PND rats, after anesthesia, a laparotomy was performed on the mouse with an abdominal median incision. Under the dissection microscope, the pelvic nerves behind and after each sides of the prostate gland were bluntly separated with cotton swabs and cut with a dissecting scissor. After the operation, the urination of mice was assisted twice every day. For the mice of sham operation group, the pelvic nerves were only exposed without cutting. (2) Detection of models. Colonic transit test was performed in 18 mice chosen randomly from each group to detect the colonic transit ratio (colored colon by methylene blue/ whole colon) and visceral sensitivity tests was performed in the rest mice to observe and record the changes of electromyogram.

RESULTSThree mice died of colonic transit test in each group. Uroschesis occurred in all the mice of PND group and needed bladder massage to assist the urination. Colonic transit test showed that the colonic transit ratios of sham operation group at postoperative day (POD) 1, 3 and 7 were (0.4950±0.3858)%, (0.6386±0.1293)% and (0.6470±0.1088)% without significant difference (F=0.3647, P=0.058), while in PND group, the colonic transit ratio at POD 7 [(0.6044±0.1768) %] was obviously higher than that both at POD 3[(0.3876±0.1364)%, P=0.022] and POD 1[(0.2542±0.0371)%, P=0.001], indicating a recovery trend of colonic transit function (F=9.143, P=0.004). Compared with the sham operation group, the colonic transit function in PND group decreased significantly at POD 1 and POD 3(both P<0.05), and at POD 7, there was no significant difference between two groups. Visceral sensitivity test showed that the visceral sensitivity of sham operation group at POD 1, 3 and 7 was 24.2808±9.5566, 33.6725±7.9548 and 43.9086±12.1875 with significant difference (F=5.722, P=0.014). The visceral sensitivity of PND group at POD 1, 3 and 7 was 11.7609±2.1049, 21.8415±8.1527 and 26.2310±4.2235 with significant difference as well (F=11.154, P=0.001). The visceral sensitivity at POD 3 and POD 7 was obviously higher than that at POD 1 (P=0.006, P<0.001), and there was no significant difference between POD 3 and POD 7 (P=0.183). Compared with sham operation group, the visceral sensitivity of PND group decreased significantly at POD 1, 3 and 7(all P<0.05).

CONCLUSIONSDenervation of pelvic nerves can obviously decrease the colonic transit function and the visceral sensitivity of mice, but these changes can recover over time, which suggests that the establishment of PND model in mice is successful.

Abdominal Pain ; physiopathology ; Animals ; Autonomic Pathways ; growth & development ; physiopathology ; surgery ; Colon ; innervation ; physiopathology ; Denervation ; methods ; Disease Models, Animal ; Gastrointestinal Transit ; physiology ; Male ; Mice ; Mice, Inbred C57BL ; Nerve Tissue ; growth & development ; physiopathology ; surgery ; Pain, Postoperative ; physiopathology ; Pelvis ; innervation ; physiopathology ; surgery ; Prostate ; innervation ; Recovery of Function ; physiology

OBJECTIVETo detect structural changes in the brain in fetuses with agenesis of the corpus callosum (ACC) and holoprosencephaly (HPE) in the first trimester.

METHODSThe ultrasound data were analyzed retrospectively in 620 normal singleton fetuses between 11 and 13(+6) gestational weeks, 5 fetuses diagnosed to have ACC, and 13 fetuses with HPE. The midbrain diameter (MD) and falx diameter (FD) were measured and their ratio (MD/FD) was calculated for comparative analysis.

RESULTSNo significant difference was found in the MD, FD, and MD/FD ratio between fetuses with ACC and HPE (P>0.05). Compared to the normal fetuses, all the fetuses with ACC and HPE showed significantly increased mean MD and MD/FD ratio (P<0.05); 4 (80%) fetuses with ACC and 11 (84.6%) with HPE had a reduced FD. All the fetuses with ACC and HPE had MD/FD ratios greater than 1, which were below 1 in all the normal fetuses.

CONCLUSIONIn the first trimester, fetuses with ACC and HPE have measurable abnormalities in the midbrain and falx area of the brain, and these changes, represented by abnormal midsagittal MD, FD and their ratio, can be of value in detecting ACC or HPE in fetuses in the first trimester.

Agenesis of Corpus Callosum ; diagnosis ; Corpus Callosum ; diagnostic imaging ; Female ; Fetus ; Gestational Age ; Humans ; Pregnancy ; Pregnancy Trimester, First ; Retrospective Studies ; Ultrasonography, Prenatal

OBJECTIVETo determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD).

METHODSRoutine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to confirm the results.

RESULTSPatient 1 showed a global developmental delay, especially impaired language development, seizures, behavioral problems belonging to the autism spectrum and mild facial dysmorphism. Patient 2 mainly presented with severely delayed speech and moderate intellectual disability, but did not have obvious facial dysmorphism and autistic-like behavior. The diagnosis of 22q13 syndrome was established based on identification of a heterozygous microdeletion at chromosome 22q13.33 in both patients (69 kb and 587 kb, respectively) by the SNP array analysis. Both patients had deletions of SHANK3 and ACR, which are located at the end of 22q. Quantitative real-time PCR verified that the deletion of SHANK3 gene in both patients were de novo in origin.

CONCLUSIONTwo cases of 22q13 deletion syndrome have been diagnosed by SNP array analysis. Deletion of SHANK3 gene may be the major contributor to the clinical manifestations of the patients. SNP array analysis can facilitate discovery of microdeletions, which has played an important role in the diagnosis and genetic counseling for the family.

OBJECTIVETo compare the effect differences between auricular intradermal needling combined with erjian (HX) bloodletting and oral administration of western medicine, and to explore the efficacy of neuroendocrine level in patients with perimenopausal insomnia.

METHODSNinety patients were randomized into an observation group and a control group, 45 cases in each one. In the observation group, auricular intradermal needling combined with erjian (HX) bloodletting were adopted alternately in the two ears. The auricular points were shen (CO), xin (CO), gan (CO), shenmen (TF), jiaogan (AH), neifenmi (CO) and erjian (HX). The treatment was required once 3 days on the auricular points of one side alternatively. Oral administration of estazolam (1mg each day) was applied in the control group for 2 courses, 4 weeks as 1 course, once a day. The scores of Pittsburgh sleep quality index (PSQI), the levels of serum estrogen (E), 5-hydroxy tryptamine (5-HT) and norepinephrine (NE) were valuated in the two groups before and after treatment.

RESULTSAfter treatment, the total scores of PSQI reduced in the two groups (both <0.05), and the improvements of sleeping quality, sleeping time, sleeping difficulty, daytime dysfunction and the total PSQI score in the observation group were superior to those in the control group (all <0.05). There was no significant difference in serum E before and after treatment in the two groups，and between the two groups after treatment (all >0.05). After treatment, 5-HT contents increased and NE levels decreased in the two groups (all <0.05), with better results in the observation group (both <0.05). The total effective rate was 95.6% (43/45) in the observation group, which was higher than 82.2% (37/45) in the control group (<0.05).

CONCLUSIONAuricular intradermal needling combined with erjian (HX) bloodletting can improve the sleep quality of patients with perimenopausal insomnia, and adjust the neurotransmitter level, which achieves better effect than western medication.