Objective To explore the clinical characteristics and treatment of methylmalonic acidemia(MMA) in order to improve our understanding of it.Methods We analyzed the clinical manifestations,laboratory examinations and treatments of 26 cases of methylmalonic acidemia in children.Results Twenty-four cases were involved in nervous system.Nine patients were involved in renal system.Eight cases of hematological involved.Liver enzyme elevated in 2 cases as well as the cardiac system were involved in 3 cases.One case was with pneumonia onset.The laboratory findings showed metabolic acidosis in 12 cases,hyperhomocysteinemia in 8 cases and remarkable elevation of urinary methylmalonic acid concentration in all cases.Some abnormalities in globus pallidus and cerebral white matter as well as diffuse cerebral atrophy were noted by the brain CT and MRI in 15 cases.Sixteen children have received therapy of vitamin B12,and supplementation of L-carnitine with restricted-protein diet.The follow-up for a period ranging from 3 months to 1.5 years( mean 8.5 months) of 15 cases with medical therapy showed a favorable outcome of nervous system improvement in 12 cases,however,2 patients died from severe metabolic acidosis.8 patients with renal involvement were normal in urine routine and renal function.Conclusion Methylmalonic acidemia has different clinical features,so early urine organic acids analysis by GC/MS method is essential Long-term and reasonable treatment after diagnosis is an effective way to improve the prognosis.

Pituitary stalk interruption syndrome(PSIS) is a rare disease characterized by different degrees of anterior pituitary hormone deficiency.The typical imaging finding is a thin or absent pituitary stalk,often associated with an ectopic posterior pituitary and a hypoplastic anterior pituitary.The cause is still unkown.Dynamic contrastenhanced MRI helps to confirm the diagnosis.Replacement of multiple anterior pituitary hormones is the key of the treatment.Doctors should have a thorough understanding of the disease and give patients efficacious treatment and a better prognosis would be obtained.

Objective To analyse the clinical characteristics of male hypogonadotropic hypogonadism.Methods Clinical data of 87 cases of male hypogonadotropic hypogonadism were retrospectively analyzed.Results Mean age was(18.8?4)years old,and 25 patients were diagnosed as Kallman syndrome.The level of serum LH,FSH,and T was low,and LH responded poorly to GnRH stimulation.Most patients' bone age was delayed,and all patients' CT or MRI of pituitary was normal.Conclusion According to the above clinical features,and testosterone replacement or hCG and/or plus hMG are the choice of treatment.

Objective To compare the condition of illness and pathological characteristics of experimental autoimmune encephalomyelitis (EAE)in C57 BL/6 mouse models induced by myelin oligodendrocyte glycoprotein 35-55 (MOG35-55)at different doses,and provide a reliable animal model for further study of multiple sclerosis(MS).Methods Male SPF-grade C57 BL/6 mice were divided randomly into four groups:normal group and three EAE model groups (MOG35-55 high-dose,middle-dose and low-dose model groups).200,100,50μg MOG35-55/mice were mixed with complete Freund's adjuvant(CFA),respectively,to prepare complete antigen in different concentrations.The mice were anesthetized and injected s.c.over flanks with the complete antigen and injected i.P.with pertussis toxin to establish immunization-induced C57BL/6 mouse-model of EAE.The mice of the normal group were injected with normal saline instead.Since the day of immunization,the incidence,body weight and neurological score of the mice were observed.The mice of different neurological scores in different periods were anesthetized and perfused with saline and followed by 4% paraformaldehyde.The brain and spinal cord of the mice were removed and fixed in the same fixative solution.The brains and spinal cords of the mice were examined by histopathology with hematoxylin-eosin(HE) staining.The mice on the 40th day were sacrificed and perfused with 2% paraformaldehyde and 2% glutaraldehyde, 1 mm~3 pieces of cerebral white matter and intumescentia lumbalis of the spinal cord were taken and ultrathin sections were prepared according to conventional techniques for electron microscopy. Results All the MOG_(35-55) in three different doses induced mouse models of EAE. The disease was with an incidence rate of 100% and a chronic monophasic course. The body weight of the mice in the three groups decreased obviously compared with those in the normal group. The maximum value of neurological score was 1.33,2.25 and 2.50 in the mice of high-, middle-and low-dose groups, respectively. The major histopathological changes observed in the brain and spinal cord of the EAE mice were different degrees of inflammatory cell infiltration around small vessels showing sleeve-like changes, dcmyelination and neuronal karyopyknosis in the acute and remission stages. The main site of the brain inflammation was in white matter around encephalocoele, and also in the DG and CA zones of hippocampus. The spinal cord inflammation was most severe in the lumbosacral region. The above mentioned pathological changes in the low-dose group were more prominent than those in the middle-dose and high-dose groups. The major ultrastructural changes were scattered around encephalocoele, interstitial edema, especially around small blood vessels, and swollen mitochondria with damaged cristae, and some karyopyknosis in vascular endothelial cells. Some tight junctions were blurred. Some dispersed lymphocytes and mononuclear cells were seen in the perivascular space. In lumbar intumescentia of the spinal cord, there were some myelin figures in the white matter myelin sheath. Some of them showed demyelization and structurtal fusion. The cytoplasmic organelles of axons were considerably reduced or even disappeared. The vascular basement membrane showed an increased thickness and focal necrosis in some areas. Conclusion The mouse models of immune-induced EAE are successfully established with MOG_(35-55), especially that induced with MOG in a dose of 50 μg. This mouse model is stable, with a high incidence and low mortality rate, and can be applied for EAE research in the future.

Objective To increase the quality of blood transfusion medical record and strengthen the management of clinical blood transfusion by establishing a management system for clinical blood transfusion.Methods The management system of clinical blood transfusion was developed by using Sybase PowerBuilder 10.5 program and Oracle 8/8i database,through the function module's development of blood application and evaluation by using C/S structure.Results The management system of clinical blood transfusion realized the exchange of the internal data information with the blood information management system and LIS database,and implemented online audit of transfusion application and evaluation,which improved the work efficiency and reduced the human error.Conclusion The management system of clinical blood transfusion can improve the quality of blood transfusion medical record and realize real-time regulation of clinical blood transfusion to ensure the safety of transfusion.

Objective To assess the effects of absorbable biomedical membrane-embedded intrauterine device ( IUD) in prevention of recurrence after hysteroscopic adhesiolysis for severe intrauterine adhesions ( IUA ) .Methods A prospective study was carried out among 125 patients who underwent hysteroscopic adhesiolysis for severe IUA from February 2013 to January 2015.Foley catheter was placed immediately after surgery and removed 7 days later.Then patients were randomly divided into three groups:group A (40 cases) received round IUD insertion after catheter removal;froup B (41 cases) received IUD placement and intrauterine injection of sodium hyaluronate; group C ( 44 cases ) received absorbable biomedical membrane-embedded IUD insertion.All patients received two artificial cycles ( oral estradiol valerate, 9 mg/d) the first day after surgery.Hysteroscopy was carried out two months later to assess the repair of endometrium.Patients who were cured or whose condition was greatly improved received three-dimensional transvaginal ultrasound examination in the first natural cycle.Thickness of endometrium, uterine volume and blood flow index were compared.Results Cure rate and effective rate in group C were significantly higher than that in groups B and A [43%(19/44) vs.22%(9/41) and 20%(8/40), χ2 =6.89,P=0.03, 86%(37/44) vs.56%(26/41) and 65%(23/40), χ2 =9.78, P =0.01].The improvement rate of menstruation was higher in group C compared with groups B and A [84%(37/44) vs. 63%(26/41)and 58%(23/40),χ2 =7.73, P=0.02].Average endometrium thickness, uterine volume and blood flow index were also significantly improved in Group C[(8.4 ±1.1) vs.(7.2 ±1.5) and (7.6 ± 1.1) mm, F=5.42,P=0.01,(4.3 ±0.3) vs.(3.9 ±0.4) and (4.0 ±0.6) cm3 ,F=7.12,P=0.00, 28.0 ±4.0 vs.24.6 ±4.7 and 23.4 ±4.0,F =5.40,P =0.01] .No significantly differences were observed between group B and group A in terms of the above indices.Conclusion Insertion of absorbable biomedical membrane embedded-IUD has a good therapeutic effect and can better prevent adhesion recurrence in patients with severe intrauterine adhesion after adhesiolysis.

Objective To investigate whether the bilateral nipple discharge with the background of hypothyroidism and pituitary tumor causes intraductal neoplasm. Methods Clinical data of 222 bilateral nipple discharge patients with hypothyroidism or pituitary tumor undergoing mammary ductoseopy (MDS) examination were analyzed. Those diagnosed as intraductal papilloma received surgery and pathological exam. 158 cases with inflammatory comedomastitis diagnosed by MDS received milk duct washing with gentamycin, dexamethasone and corresponding medical treatment. Results Among the 222 cases, 158 cases(71.17%) were diagnosed as inflammatory comedomastitis by MDS, 64 cases (28.83%) were diagnosed as intraduetal papilloma (64/222) by MDS and received operation,59 cases were pathologically diagnosed as intraductal papilloma,the other 5 cases were pathologically diagnosed as mammary duct ectasia. The pathological coincidence was 92.2% and no breast cancer was observed. 68.10% of inflammatory comedomastitis cases suffered from breast pain. There were no significant difference in the disease distribution of the ethnic groups. During pre-menopause period, the incidence of period neoplasia is higher in pituitary tumor than hypothyroidism; However, during the post-menopause the situation was vice versa. The color of niplle discharge is mostly milk-like in patients with pituitary tumor, while serous in patients with hypothyroidism. 71.19% of duct papilloma locate at the branch of the main duct. Conclusion The bilateral nipple discharge with hypothyroidism or pituitary are usually concomitant with intraduetal lesions. Mammary ductosopy is helpful to discover intraduetal neoplasia.

Objectives To improve the diagnostic and therapeutic ability of ectopic ACTH syndrome by analysing its clinical features.Methods Sixteen cases of ectopic ACTH syndrome diagnosed in Chinese PLA General Hospital from 2000 to 2009 were analyzed retrospectively.Results ( 1 ) The main causes of ectopic ACTH syndrome were lung tumor and thymic carcinoid;(2) Abnormal glucose metabolism, hypertension, hypokalemia and edema of both lower limbs were the most common clinical symptoms;(3) Laboratory examination showed a significant increase of serum cortisol, adrenocorticotropic hormone(ACTH) and 24 h urinary free cortisol (24hUFC) together with severe hypokalemia and alkalosis;(4) High dose dexamethasone suppressing test, corticotrophin-releasing hormone(CRH) stimulating test and petrosal sinus sampling were the most meaningful diagnostic methods;(5) Most of the primary lesions might be detected with chest film and CT;(6) Resection of the primary lesion was the treatment of first choice.Conclusion The diagnosis of ectopic ACTH syndrome is very hard.Resection of the primary lesion is the best treatment.

Objective To investigate feasibility and effect of external fixator plus steel plate in treatment of open tibiofibular fractures combined with tibial defect.Methods The study involved 21 patients with open fractures of tibia and fibula (15 patients with type Gastilo ⅢA,five with type Gastilo ⅢB and one with type Gastilo ⅢC) with concurrent tibial defect of 2-6 cm.External fixator plus fibular steel plate was performed at the first stage,followed by iliac bone grafting for bone defect at the second stage.Results All patients showed successful reconstruction of the tibial defects with length difference between affected and healthy extremities less than 2 cm in follow-up for (14.0 ± 10.5) months (range,8-24 months).Meanwhile,no talipes equinovarus existed.Conclusions External fixator plus steel plate is an effective method for treating open tibiofibular fractures combined with tibial defect.The length and function of the extremities of patients with open tibiofibular fractures combined with tibial defect of less than 6 cm can be successfully restored.

Objective To investigate the expression of homeobox gene MSX-2 during cranial suture fusion of SD rats and discuss its significance. Methods SD rats aged 1, 2, 5, 8, 12, 15, 18, 22, 30 and 45 days were selected, and immunohistochemistry and Real-time PCR were employed to localize and quantify the expression of MSX-2 in different regions of cranial sutures. Results MSX-2 expressed in calvarial suture tissues including the extreme ends of the osteogenic fronts and the underlying dura mater. The expression of MSX-2 was low in posterior frontal suture (PF) and sagittal suture (SAG) from postnatal day 1 to day 8 before the initiation of suture fusion, while it was higher in PF than in SAG from postnatal day 12 to day 22 after the initiation of PF suture fusion. The expression of MSX-2 significantly declined in PF and was moderately higher than that in SAG from postnatal day 30 to day 45 after the initiation of suture fusion. Conclusion There is different expression of MSX-2 in PF and SAG during different suture fusion periods, which suggests the expression of MSX-2 may participate in the regulation of cranial bone development and the fusion of cranial sutures.