Objective To investigate the development and the risk factor of hip dislocation about children with cerebral palsy. Methods 90 children with cerebral palsy were divided with Chinese version of Gross Motor Function Classification System （GMFCS） and type of cerebral palsy. Their femoral head migration percentage was measured. Results The quadriplegia children were in the biggest risk of hip dislocation, hemiplegia children were the minimum; GMFCS Ⅰ children were in the lowest risk of hip dislocation, GMFCS Ⅴ children were the highest. Conclusion The abnormal development of the hip is correlative with the type of cerebral palsy and motor function in spastic cerebral palsy children.

Objective To analyze the clinical characteristics of Hashimoto's disease(HD) accompanying with thyroid cancer,and to explore the experience of diagnosis and treatment.Methods Clinical data of 41 cases of HD accompanying with thyroid cancer were retrospectively analyzed.The patients were diagnosed by postoperative paraffin pathological examination from Jan.2002 to July 2011.Results 10 cases of HD,37cases of thyroid cancer,and 8 cases HD accompanying with thyroid cancer were diagnosed before operation.The rate of preoperative diagnosis was only 19.51％.All patients underwent surgical treatment,including 22 cases total thyroidectomy,14 cases subtotal thyroidectomy,and 5 cases lesion side lobe resection.24 cases underwent ipsilateral neck dissection,and 4 cases underwent bilateral neck dissection (ipsilateral radical resection,contralateral selective resection).Postoperative paraffin pathological examination proved that there were 39 cases of HD accompanying with thyroid cancer,1 case of focal cancer and 1 case of B-cell lymphoma of mucosa-associated thyroid.All patients were followed up.Conclusions The preoperative diagnosis rate of HD accompanying with thyroid cancer is low and great attention should be paid to its diagnosis.For HD patients,if carcinoma can not be excluded,surgical exploration is recommended.Appropriate surgical method should be chosen according to intraoperative frozen section results.Postoperative thyroid hormone treatment is usually taken.

0.05). Positive expression of 2 or all 3 markers of neuroendocrine cell was detected in all 16 samples; negative expression of all 5 peptide hormones was observed in only 25% of samples. At a mean follow-up of 44.2 months (range 4 months-7 years ), the mean time from resection to relapse or metastasis was 29.8 months; 7 cases survived more than 5 years, of which 2 have survived for 7 years. Two cases, who subjected non-operative treatment, survired 39,61 months, respectively.Conclusions Clinical manifestations of NPNEC are non-specific. Only a few tumors in NPNEC patients do not yield peptide hormones. Treatment of NPNEC (including patients with liver metastasis) with aggressive surgical resection followed by interventional methods can result in excellent overall long-term survival.

Objective To explore the characteristics of gross motor development in 1～6-year-old children with cerebral palsy at different levels. Methods 708 children (487 males and 221 females, age range: 1～6 years, from 6 rehabilitation centers in Shanghai) with cerebral palsy (CP) were assessed with Chinese version of Gross Motor Function Classification System （GMFCS） and Gross Motor Function Measure (GMFM). Distributions of GMFM scores at different GMFCS levels in children with cerebral palsy were analyzed. Results The GMFM-66 scores increased most in children with GMFCS Level Ⅰ, and more than 75% of them would be greater than 67 points in GMFM-66 score after the age of 48～50 months. The children with GMFCS Level Ⅱ～Ⅳ appeared similar increasing range of GMFM-66 scores in 1～6 years old. Less than 25% of the children at GMFCS Level Ⅱ would be greater than 67 points in GMFM-66 score before the age of 6 years, more than 50% of those at GMFCS Level Ⅲ would be less than 56 points, more than 75% of those at GMFCS Level Ⅳ couldn't exceed 46 points （except groups of 54～56 months and 66～68 months）. Compared with the children with other GMFCS levels, the GMFM-66 scores were always at very low level in children with GMFCS Level V, and trended to decrease with time after 5 years old. Conclusion The characteristics of gross motor development are different in children with cerebral palsy at different GMFCS levels.

Objective To evaluate the curative effect of selective decongestive devascularization shunt of gastrosplenic region(SDDS-GSR) for the treatment of portal hypertension. Methods From September 2000 to June 2008, 44 patients with portal hypertension had received SDDS-GSR in our hospital. Twenty-nine of them had been followed up for 12-85 months (mean=44months). Results Operative mortality was 0 %. Mesenteric area pressure(33.82±5.12 cm H_2O) was higher than splenic area pressure(24.57±4.63 cm H_2O)soon after the operation finished(P<0.01). No re-bleeding ca-ses were found, and the encephalopathy occurred in 2.27% of the patients in the early stage of post-operation. However, the rates of 3.45% for re-bleeding and 3.45% for encephalopathy were noticed in long-term follow-up. The 1-, 3- and 5-year survival were 100%, 95% and 95%, respectively. Dur-ing the long-term follow-up, the platelet counts markedly increased from (49.2±21.8 × 10~9/L) of preoperative value to (77.2±29.5×10~9/L) (P<0.01), while spleen size was significantly reduced.Conclusion SDDS-GSR is a reliable and reasonable surgical procedure for the management of portal hypertension.

Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.

Objective To study the SCN1A gene in a family with partial epilepsy with febrile seizures plus ( PEFS+ ) and its characteristics of inheritance. Methods The clinical features of the 2 patients and their father were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was pedormed on those with abnormal elution peak. Pyrosequencing was subsequently performed in those without abnormality in direct sequence analysis. Results The proband and his sister had the phenotype of PEFS+ . The same heterozygous mutations (AS768G) on exon 26 which caused the related amino acid change (Q1923R) were found among them. Their father had frequent febrile seizures (FS) in childhood, and seizures stopped spontaneously. No abnormality was found in direct sequence but mosaic mutation in the same site was discovered with pyrosequencing (mutation quantity was 25% ). Conclusions The mutatin of SCN1A could cause partial epilepsy. PEFS+ could be inherited, the relatives carrying the affected gene may have mild clinical symptoms, possibly resulting from the low concentration of the mutated gene due to mosaic mutation.

Objective To screen the fragilex mental retardation 1 (FMR1) gene mutations and explore the frequency of FMR1 gene mutation in the population with mental retardation in South China.Methods Seventy-two patients (65 males and 7 females) with suspected fragile X syndrome (FXS) in South China were enrolled in our hospitals from October 2009 to April 2014.The CGG trinucleotide repeats in 5'UTR of FMR1 gene and CCG trinucleotide repeats in FMR2 gene were screened respectively by PCR.Southern blotting and capillary electrophoresis sequencing were performed in male patients without normal target bands and suspected female patients;patients with normal CGG alleles were,then,performed exons and 3'-UTR ofFMR1 gene amplification and sequencing.The frequency of FMR1 gene mutation in patients with mental retardation in different countries and regions was compared with statistical analysis.Results Six pedigrees with full mutation (one female and five males being the probands),one pedigree (mother and son) with FMR1 gene deletion and one pedigree (mother and son) with mutation in the transition region were identified in 72 patients with mental retardation.The prevalence of total mutation was 9.7％ (7/72) and that in male patients was 9.2％ (6/65).These results showed significant differences in prevalence as compared with the results from different countries and areas (P＜0.05);there were no variations in 3'UTR ofFMR1 gene and FMR2 gene mutation in the patients with FXS-like phenotype.Conclusions FMR1 mutation frequency may be higher in mental retardation population in southem China as compared with that in developed countries or areas.Targeted screening on the unexplained mental retardation pedigrees (family history) can improve the diagnosis of FXS.Importantly,deletion mutations screening should also be performed in suspected FXS subjects with normal CGG repeats.

Objective To study the clinical features and genetic mechanism of myoclonic-astafic epilepsy (MAE) in infancy. Methods This study was conducted among 10 infants with MAE (including 7 male and 3 female patients) diagnosed between 2006 and 2008 according to the criteria of International League Against Epilepsy (2001). The clinical data including onset age, seizure type, physical signs, EEG, brain maguetic resonance imaging (MRI), effects of anti-epileptic drugs and prognosis were analyzed. The mutations of voltage-gated sodium channel subunit type 1 gene (SCN1A gene) were screened by denaturing high performance liquid chromatography and direct sequencing. Results The 10 MAE cases included 8 sporadic cases and 2 with a family history of febrile seizure and epilepsy. The onset age ranged from 5 months to 39 months, and all the MAE patients had multiple generalized seizure types, including myoclonic-atonic, myoclonic, atonic, tonic-clonic and absence seizures. Two patients had myoclonic status epilepticus, and 7 showed mental retardation. All the patients showed normal findings in MRI. SCN1A gene was screened in 8 of the MAE patients, and no mutation was found. Valproate, clonazepam and levetiracetam were effective in these MAE cases. Conclusion MAE is a rare epilepsy syndrome, whose genetic mechanism is still unclear. Valproate, clonazepam and levetiracetam are effective for MAE, which is associated with poor prognosis.

Objective To screen the GABRG2 gene in Chinese patients diagnosed as having epilepsy with febrile seizures plus (EFS+) and analyze the in vitro splicing of intron mutations of GABRG2 gene. Methods After collecting the blood samples from patients with EFS+, all 9 coding exons and introns relevant to mRNA splice of GA BRG2 gene were sequenced by PCR. PCR products of exons 7, 8 and 9 and part of the introns of both ends of GABRG2 gene were cloned into the pTARGET vector to construct pTARGET-Exon-7-8-9 minigene vector and its Exon8+45C>T mutation vector.Wild-type and Exon8+45C>T mutation vector were transfected into HEK 293 cells and extracted RNA for RT-PCR. Results We did not detect mutation in GABRG2 gene coding region, but found 1 mutation in intron Exon8+45C>T. After splicing, the size of RT-PCR products of Wild-type and Exon8+45 OT mutation were both 522 bp. Conclusion Mutations in GABRG2 gene coding region are not likely to be substantially involved in the etiology of EFS+. Exon8+45C>T mutation does not affect the splicing of GABRG2 gene.