Objective To investigate clinical features,diagnosis and treatment of congenital adrenal hyperplasia (CAH) and to improve the knowledge of 21-hydroxylase deficiency form in CAH.Methods Ninteen neonatal CAH cases admitted to the neonatal intensive care unit of Shenzhen Children's Hospital from Jan 2004 to Aug 2011 were reviewed retrospectively.According to the early clinical manifestations,the serum levels of 17-hydroxyprogesterone,testosterone,progesterone,cortisol and adrenocorticotropic hormone (ACTH),early diagnosis was drawn and they were given to the glucocorticoid therapy.The alterations of blood sodium and potassium were compared before and after glucocorticoid therapy.Results Fourteen cases of 21-hydroxylase deficiency were salt-losing form who all were complicated with adrenal crisis and five cases were simple virilizing form.All CAH newborns(19 cases) appeared dark color of skin and mucosa.Fifteen cases had resistence to milk,poor response and feeding problem.The weight of eight cases at admission were lower than birth weight.Five cases suffered from repeating vomiting and diarrhea.After glucocorticoid therapy,there were significant improvement of hyponatremia[(110.2 ±9.5) mmol/L vs (138.7 ±5.2) mmol/L] and hyperkalemia[(7.40 ± 1.59) mmol/L vs (4.40 ±0.69) mmol/L] (P both ＜0.05).Conclusion We should raise the knowledge and level of diagnosis of neonatal CAH.We should diagnose the salt-losing form of 21 hydroxylase deficiency which is highly complicated with adrenal crisis through specific clinical manifestations and necessary biochemical assay as early as possible.The glucosteroid therapy is effective.

Objective To investigate the changes and clinical significance of cerebrospinal fluid (CSF) non-protein-bound iron and malondialdehyde(MDA) in preterm infants with severe intraventricular hemorrhage (IVH) after serial lumbar punctures.Methods Non-protein-bound iron and MDA of CSF in twenty severe IVH preterm infants with first and end lumbar puncture were examined respectively.The control samples were determined for once from first to second week after birth.Results Both Non-protein-bound iron and MDA levels of the first CSF sample in twenty severe IVH preterm infants were higher than that in control[(0.66±0.38)μmol/L vs (0.24±0.12)μmol/L(P<0.01);(1.21±0.41)μmol/L vs (0.89±0.35)μmol/L(P<0.05)].Non-protein-bound iron levels of first and end CSF sample in severe IVH with posthemorrhagic ventricular dilatation (PHVD) were both higher than those without PHVD [(0.75±0.34)μmol/L vs (0.54±0.31)μmol/L;(0.57±0.21)μmol/L vs (0.35±0.18)μmol/L](P<0.05).However,there was no significant difference in MDA levels between both groups.The levels of non-protein-bound iron of end CSF in severe IVH with and without PHVD were significantly lower than those of the first CSF samples (P<0.05),while,there was no significant difference in MDA levels between the end and first CSF samples.Conclusion The non-protein-bound iron and MDA of CSF in severe IVH preterm infants were both significantly increased,non-protein-bound iron and oxygen free radicals may be involved in the preterm brain injury.Serial lumbar punctures can lower the levels of non-protein-bound iron in CSF.

Objective To investigate the effects of high frequency oscillatory ventilation (HFOV)combined with inhaled nitric oxide(iNO) on neonates with severe meconium aspiration syndrome(MAS).Methods Sixty newborn infants with severe MAS admitted to the neonatal intensive care unit of Shenzhen Children's Hospital from Oct 2008 to May 2011 were included for this study.All of them needed mechanical ventilation after birth and oxygenation index (OI) ＞ 30.According to the different ventilation modes,they were randomly divided into conventional mechanical ventilation (CMV) group,HFOV group and HFOV combined with iNO (HFOV + iNO) group,each group had twenty neonates.OI and the rate of air leak and pulmonary hypertension in each group were compared.Results Ventilation after 24 h,OI of HFOV group and HFOV + iNO group were significantly decreased as compared with CMV group (19.0 ± 4.5 vs 11.0 ± 5.3 vs 25.0 ± 7.1,P ＜ 0.05).In HFOV + iNO group,the obvious decline of OI(from 36.0 ± 7.4 to 24.0 ± 5.2) were observed at four hours after treatment.The rate of air leak in HFOV and HFOV + iNO groups was both zero as compared with CMV (5/20,25％).The rate of pulmonary hypertension in HFOV + iNO group was zero and the HFOV group was 30％ (6/20),the CMV group was 40％ (8/20).Conclusion HFOV combined with iNO was preferred treatment for neonates with severe MAS,and they have synergistic effect.

Objective To investigate the major types and clinical manifestations of mitochondrial DNA (mtDNA)mutations in Chinese patients with Leber′s hereditary optic neuropathy(LHON). Methods A total of 119 patients with bilateral optic neuropathy from 117 pedigrees, including 37 with determinate diagnosis of LHON(group A) and 82 with suspected LHON(group B),were tested for mtDNA mutations by using single-strand conformational polymorphism, mutation-specific primer polymerase chain reaction and sequencing. Pertinent clinical data and history of the patients with the 11778 mutation were collected. Results Nucleotide positions(np)11778 mutation and np 14484 mutation was found in 33 (89.2%) and 3 (8.1%) patients respectively in group A, while np 11778 mutation was obtained in 26 (31.7%)in group B. No 3460 mutation was found in group A or B. The clinical manifestations of 59 patients with np 11778 mutation were as follows: acute or chronic visual loss,no ophthalmalgia, the age of onset of 10-25, and either a central or paracentral scotoma in perimetry. The visual recovery rate was 8.6%～11.6%. Conclusion Chinese patients with LHON have a very high incidence of np 11778 mutation and the clinical manifestations of the patients with np 11778 mutation are similar to those of Caucasian patients.

Objective: To observe the effects of electroacupuncture combining with behavior therapy on the adaptive behavior ability in children with autism. Methods: Sixty children with autism were divided into a treatment group and a control group with 30 cases in each group. Children in the treatment group were treated with electroacupuncture and behavior therapy, and children in the control group with behavior therapy. The adaptive behavior quotient (ABQ) and the effects were evaluated with adaptive behavior scale before and after treatments. Results: After treatments, ABQ in the treatment group was higher than before treatments (P<0.05), and the difference (6.15±5.412) was higher than that in the control group (3.20±4.348) with a significant difference (P<0.05). The adaptive behavior ability in the treatment group was better than that in the control group (P<0.05). Conclusion:Electroacupuncture combining with behavior therapy can significantly improve the adaptive behavior ability in children with autism.

Objective To develop an advanced two-cuff technique orthotopic liver transplantation model in rats. Methods On the basis of the previous two-cuff-technique, some hypercoagulable blood was released from the recipient's PV and IVC before the cuffed donor PV and IVC were inserted into the lumen of the recipient's PV and IVC. The anastomosis of recipient's SVC was between the donor's diaphragm venaccaval hiatus and recipient's SVC. Results Every anastomosis was effective. The operative successful rate and one-week survival rate were 96.7?% and 90.0?% respectively. Conclusion This model could be used as an effective measure for the study of liver transplantation in rats.

Objective To evaluate the efficacy and safety of ultrasound-guided percutaneous ethanol injection(PEI)in the treatment of solitary benign thyroid adenoma.Methods One hundred and twelve patients with thyroid adenoma underwent PEI.The amount of anhydrous ethanol injected was approximately one third of the volume of thyroid nodule and used once a week,the injection was repeated two to five times.Results The average volume of pure adenoma and adenoma associated with cystic degeneration is ( 4.93 ? 0.48 )cm 3 and ( 7.89 ? 0.91 )cm 3;the nodules decreased markedly to ( 3.22 ? 0.40 )cm 3 and ( 3.85 ? 0.55 )cm 3 3 months after PEI treatment (P

Objective To investigate the effect of atorvastatin on cardiac fibrosis and on the expression of NF-?B and TNF-? in a rat model of type 2 diabetes mellitus.Methods Sixty SD rats were randomly divided into 3 groups.In control group(n=20) the rats were fed with normal food and gavaged with normal saline.In diabetes group(n=20) the rats with type 2 diabetes was induced by intraperitoneal injection of low doses of streptozotocin(STZ),and the rats were fed with high fat diet.In atorvastatin group(n=20) diabetes was reproduced in rats and atorvastatin 20mg/(kg?d) was gavaged for 12 weeks.The pathological changes in myocardial cells were observed under light microscope.Collagen content was observed by Masson staining.The contents of TNF? were determined in plasma and cardiac tissue with RIA.RT-PCR was used to study the gene expression of NF-?B and TNF-?.The proteins of NF-?B p65 and TNF-? were assayed by immunohistochemical method.Results It was showed under light microscope that cardiac myocytes were compact and orderly with clear structure in control group.The cardiac myocytes were disorderly,distorted,with infiltration of inflammatory cells in the interstitium in diabetes group.The cardiac myocytes were orderly arranged,and the structure was close to normality in atorvastatin group.TNF-? in diabetic rats increased significantly in plasma and myocardium(P

Objective To study the clinical effects of low dose mifepristone together with methyltestosterone on the treatment of climacteric dysfunctional uterine bleeding(DUB).Methods Seventy patients with DUB were underwent dilatation and curettage of the uterus and divided into treatment group(n=35) and control group(n=35).The patients in the treatment group were treated with mifepristone and methyltestosterone,and those of the control group were treated with norlutin.The amenorrhea,the changes of endocrine and the pathology of endometrium were observed.Results All the patients were amenorrhea during the period of taking medicine and the regular menses was recovered after the treatment.Eight patients were menopause after the treatment.The levels of FSH,LH and P were decreased.The endometrium were atrophied and the anemia was improved.Conclusion Low dosage of mifepristone with methyltestosterone can prevent endometrial hyperplasis and it is safe and effective for the treatment of climacteric dysfunctional uterine bleeding.

Objective To study the signal transduction pathway of norepinephrine (NE)-induced expressions of oncogenes c-fos and c-myc in the rat heart. Methods mRNA levels of c-fos and c-myc in the left ventricle of the Langendorff-perfused rat heart was quantitated by reverse transcription and polymerase chain reaction (RT-PCR). Results NE increased the expressions of c-fos and c-myc while the effects of NE on the expressions of c-fos and c-myc were blocked by ? 1-adrenergic blocker prazosin (5?10 -6 mol/L) completely. Neomycin (5 mmol/L) and ruthenium red (10 ?mol/L) decreased the NE-induced c-fos and c-myc mRNA levels. Conclusion NE can induce the expressions of oncogenes c-fos and c-myc in the ventricle mediated by ? 1-adrenergic receptor. The signal transduction pathway of NE-induced c-fos and c-myc expressions may be associated with inositol phosphates-Ca 2+ system and diacylglycerol-protein kinase C system.