Objectives To analyze SLC37A4 gene mutations in glycogen storage disease type Ⅰb patients and to investigate the correlation between genotype and phenotype. Methods The clinical data and SLC37A4 gene detection results of 3 cases of glycogen storage disease type Ⅰb were analyzed retrospectively. Results Two males and one female aged 6 years, 9 years, and 16 years respectively were presented with hepatomegaly, fasting hypoglycemia, slactic academia, hyperlipidemia, and granulocytopenia. The analysis of 6 alleles in SLC37A4 gene by direct sequencing of peripheral blood DNA found 4 mutations, including 2 missense mutation (p. Leu23Arg and p.Pro191Leu), one shear mutation (c.870+5G>A), and one deletion mutation (c.1042_1043 del CT). The genotypes of these 3 cases were p.Pro191Leu, p.Pro191Leu;p. Leu23Arg, c.870+5G>A;p.Pro191Leu, p.Leu347ValfsX53 respectively. Conclusions There were 4 mutations detected among these 3 cases of glycogen storage disease type Ⅰb. All of those were known mutations. The most common mutation was p.Pro191Leu. It can not be excluded that P.Gly149Glu homozygous mutation is associated with repeated infections.

Objective To study the clinical application of Yashiro catheter in chemoembolization of pelvic tumors.Methods Yashiro catheters were used in 11 of 23 cases with pelvic tumors who using Cobra catheter could not insert into homolateral internal iliac artery and median sacral artery,the blood supply arteries of tumors were found and selective chemoembolism was performed.The embolism of main stemof bilateral internal iliac arteries were done except the blood supply arteries of tumors with gelfoam in 12 of 23 cases and resection wasperformed by the same surgeons in 24~48 hours after chemoembolization.Results The time of intubatton in one branch of homolateralinternal iliac artery and median sacral artery was obviously shorten with Yashiro catheters.Superselective intubatton was successful in allpatients.The tumors were easy to strip,less bleeding and short operation time during operation.There were not recurrence followed-up 6~18 months after operation.Conclusion Chemoembolization of pelvic neoplasm by Yashiro is an effective and safe technique,it is beneficial to the removal of the pelvic tumor completely and reducing the recurrence of the tumors or metastasis.

The etiology of osteoporosis is complex, and some inflammatory factors have been found to play a role in pathogenesis of osteoporosis.This paper focuses on the advance in the potential role of inflammatory factors in the pathogenesis of osteoporosis.

Objective To analyze and summarize the clinical characteristics of patients with spontaneous hemor -rhage of hepatic adenoma in glycogen storage disease type Ⅰa.Methods Reporting 1 case in our hospital and making a summary about general situation , category, etiology, diagnosis and treatment of the hemorrhage of hepatic adenoma with glycogen storage disease type Ⅰa through checking literatures .Results The patient was a 27 year old male who had been diagnosed as glycogen storage disease for 14 years, as well as was first found hepatic adeno-ma at the age of 17 .He once was diagnosed as intra-adenoma bleeding with persistent abdominal pain and dizziness and was underwent selective hepatic artery embolization at the age of 22.Hepatic adenoma in glycogen storage dis-ease typeⅠa generally appeared at the age of puberty .One common complication of this disease was hemorrhage of hepatic adenoma , which can be found by ultrasonography and CT .Clinical management includs observation , selec-tive hepatic artery embolization , radiofrequency ablation , surgical resection and liver transplantation .Conclusions Glycogen storage disease type Ⅰa is an autosomal recessive genetic disease with hepatic adenoma as a common complication of GSD Ⅰa, serious liver adenoma's hemorrhage can be life threatening , the radiological examination can be helpful to detect hepatic adenoma .Then appropriate intervention can improve the life quality and prognosis .

Objective To explore the curative effects of uterine arterial embolization(UAE) in treating adenomyosis.Methods Bilateral UAE was performed by Seldinger’s technique in 39 patients with adenomysis (11 cases coexisted with uterine leiomyoma).The catamenia,menorrhalgia,anemia,the size of uterus and lesions were observed after procedure.Results 6 months after treatment,mean catamenia was reduces 56.2%(?

Objective To discuss the curative effect of hysteromyoma by uterine artery embolism.Methods The Seldinger's method was used for uterine artery embolism to treat hysteromyoma in 47 cases.The size of tumor and clinical symptoms were observed 3 and 6 months later after treatment.Results The blood supply of hysteromyoma was from uterine artery branches and mostly were bilateral blood supply style.6 months later after treatment ,the tumors were shrinked and clinical symptoms improved markedly in all cases.Conclusion The recent effect of intervenlional treatment for hysteromyoma is good.Infiltration anesthesia of uterine cavity can distinctly reduce incidence of pelvic cavity pain.

Objective To summarize the causes,related factors and outcome of extremely premature infants and extremely low birth weight infants.Methods One hundred and three cases of extremely premature infants and extremely low birth weight infants were admired to First Affiliated Hospital of Inner Mongolia Medical University between January 2009 and December 2015.The study was performed to analyze the clinical data of the 103 cases,included history of pregnancy,birth situation,treatment and prognosis.Results In these 103 cases,67 infants survived,36 infants died.The survival rate was 65.0％ (67/103).The extremely premature infants and extremely low birth weight infants were mainly associated with pregnancy-induced hypertension,infection,premature rupture of membranes.Factors that could affect the outcome of these cases included gestational age,sex,birth weight,pulmonary hemorrhage,bronchopulmonary dysplasia and necrotizing enterocolitis(P ＜0.05).The survival infants with long-term hospitalization often complicated with anemia.The top four causes of the death mostly were pulmonary hemorrhage,pneumonia,neonatal respiratory distress syndrome,and necrotizing enterocolitis.Conclusion In order to reduce the incidence of extremely premature infants and extremely low birth weight infants,improve the survival rate and infants quality of life,we should monitor the high-risk pregnant women closely during pregnancy period,prevent and treat all kinds of complications and prevent the occurrence of nosocomial infection.

We reported a rare case of protoplasmic astrocytoma presenting small muscle atrophy of the right hand as an initial sign.A 39-year-old male was admitted to hospital complaining of chronic muscle atrophy and subtle headache.Electromyography(EMG) showed brief small denervation and no signs of sensory-motor conduction impairment.CT and MRI revealed multiply expansive intracranial lesion in left hemisphere,which was highly suspected of cerebral echinococccus or Balo disease.The patient underwent surgical excision and pathological report was protoplasmic astrocytoma,with glial fibrillary acidic protein(GFAP,+++) of immunohistochemical method.We reviewed clinical features,radiological manifestations and pathology of protoplasmic astrocytoma with medical literature documents.

Objective: To investigate the expression of HSPC238 in cervical intraepithelial neoplasia and cervical cancer.Methods:We collected 76 cases of cervical cancer,105 cases of CIN and 28 cases of normal cervical epithelial.Then we inves-tigated the expression of HSPC238 by using immunohistochemistry and compared the significant differences between them.Results:There was no significant difference in the expression of HSPC238 between the cervical cancer and normal cervical epithelial ( Z=-0.242,P>0.05).However,there was significant difference between the cervical intraepithelial neoplasia and normal cervical epithelial (χ2=19.159,P<0.01) and the expression of HSPC238 was correlated with the grades of CIN.The expression of HSPC238 decreased when the grade of CIN was increasing.( rs=-0.327,P<0.01 ).Conclusion:The low expression of HSPC238 might be correlated with the development of cervical neoplasia.

Objective To study the correlation between the surfactant protein C ( SP-C) gene mutation in exon 5 area and respiratory distress syndrome(RDS) in premature infants. Methods From January 2013 to January 2015, nonconsanguineous premature infants [28 weeks ≤gestational age(GA)< 37 weeks] of Han ethnicity with RDS admitted to our hospital were selected as the RDS group, and nonconsanguineous Han premature infants without RDS as the control group. SP-C gene exon 5 mutation were detected using the gene sequencing method. Results SP-C gene exon 5 region c. 715G > A heterozygous mutations were detected in 17 cases among 60 patients in the RDS group. The mutation frequency was 28. 3% . SP-C gene exon 5 region c. 715G > A heterozygous mutations were detected in 8 cases among 60 patients in the control group. The mutation frequency was 13. 3% . The mutation frequency in the RDS group was statistically significantly higher than the control group (χ2 = 4. 093,P =0. 043) . In RDS group, c. 715G > A heterozygous mutation had no significant correlation with RDS grades, oxygen therapy, pulmonary surfactant dose nor treatment outcome (P > 0. 05). Conclusions A correlation may be existed between SP-C gene exon 5 area c. 715G > A heterozygous mutation and RDS in premature infants.