Objective:To evaluate the activity of iduronate-2-sulfatase (IDS) in fetal villi and peripheral blood plasma of pregnant women at high risk of mucopolysaccharidosis type Ⅱ (MPS Ⅱ), and to discuss the application of gene analysis in prenatal diagnosis of MPS Ⅱ.Methods:The enzymatic testing and gene analysis results of 23 pregnant women at high risk of MPS Ⅱ, who underwent prenatal diagnosis in Guangzhou Women and Children′s Medical Center from February 2013 to December 2020, were analyzed retrospectively.The IDS activity in fetal villi (30 cases) and plasma (28 cases) was detected by artificial substrate fluorescence.The IDS activity in fetal villi (28 cases) and plasma (34 cases) of normal pregnant women was taken as control.Meanwhile, the fetal villi of both pregnant women at high risk of MPS Ⅱ and normal pregnant women were also analyzed by gene testing and for fetal sex identification.Data were compared between groups by the independent samples t test. Results:The normal reference values of the IDS activity in fetal villi and plasma of normal pregnant women were(71.2±23.4) nmol/(mg·4 h) and (611.1±114.5) nmol/(mL·4 h), respectively.Among the 30 cases of high-risk fetal villi, the IDS activity in fetal villi of 8 affected male fetuses was (1.7±0.3) nmol/(mg·4 h), which was significantly lower than that of 11 unaffected male fetuses (83.2±6.3) nmol/(mg·4 h) and that of 9 non-carrier female fetuses (80.0±7.5) nmol/(mg·4 h) ( t=10.8, 8.8; all P<0.01). Meanwhile, the IDS activity was measured in the maternal peripheral plasma of 28 pregnant women at high risk of MPS Ⅱ.Among them, the IDS activity in 8 affected male fetuses was(225.4±20.5) nmol/(mL·4 h), which was significantly lower than that in non-affected male fetuses[(451.0±15.1) nmol/(mL·4 h)] and that in non-carrier female fetuses[(467.7±45.3)nmol/(mL·4 h)]. Eight known pathogenic mutations were found in 30 cases at high risk of MPS Ⅱ of fetal villi, and the mutation types were c. 1048A>C, c.212G>A, c.514C>T, c.257C>T, c.425C>T, and c. 998C>T.Of the 8 cases, 6 affected male fetuses had significantly reduced IDS activities, and the other 2 female carriers had normal IDS enzyme activities. Conclusions:The IDS activity in fetal villi and peripheral plasma of pregnant woman is consistent with the gene analysis results.The IDS activity has an important reference value for the prenatal diagnosis of MPS Ⅱ in the first trimester.When no genetic mutations are found in the probands or the pathogenicity of the new mutation remains unclear, the IDS activity in fetal villi can be detected separately for the prenatal diagnosis of MPS Ⅱ.

Objective:To discuss strategies in treatment of poorly differentiated thyroid carcinoma (PDTC) .Methods:Clinical data of 31 cases with PDTC were reviewed retrospectively, who were treated in Department of Head & Neck Surgery, Sichuan Cancer Hospital & Institute by primary surgical resection with or without adjuvant therapy. 27 cases had total thyroidectomy compounded neck dissection or extened total thyroidectomy when trachea or esophagus involved. 4 cases underwent partial resection of tumor. 11 cases were treated with external beam radiotherapy (EBRT) after surgery, 10 cases were treated with postoperative radioiodine, and 8 cases had chemotherapy.Results:The median follow-up time was 18 months (ranged from 3-96 months) . 19 patients died of local recurrence or distant metastasis. Kaplan-Meier analysis and Log-rank analysis was used to compare the differences between groups. Five-year survival was 35.9%. Compared to the cases with partial resection, the cases with surgical disease clearance had longer survival ( P=0.00) . The same statistical difference was found between patients with or without radioiodine ( P=0.017) . The patients treated with radioiodine had longer survival. No statistical differences were found among patients with or without chemotherapy or EBRT. COX regression analysis showed stage of tumor ( P=0.005) , total resection ( P=0.006) and postoperative radioiodine ( P=0.013) were same to predict longer survival. Conclusions:Thorough resection of tumor is the most important therapy for PDTC. Postoperative radioiodine is recommended for patients with high recurrence risk. EBRT is recommended to control local unresectable PDTC.

Objectives:To explore the GAA varient spectrum and the genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ (Pompe disease, PD), as well as to estimate the disease incidence based on carrier rate of GAA varients in Guangzhou population.Methods:A total of 57 PD cases were retrospectively enrolled at Guangzhou Women and Children′s Medical Center from January 1, 2010 to May 31, 2020. All patients presented symptoms before the age of 18 years. Each diagnosis was further confirmed by GAA enzyme activity and GAA variants. The carrier rate of GAA varients was calculated based on variants detected by whole exon sequencing among 2 395 healthy children in Guangzhou.Results:Among the 57 PD patients (including male 26, female 31),twenty-eight patients with infantile onset PD (IOPD) presented with progressive general muscle weakness and cardiomyopathy. The mean ages of symptom onset and diagnosis were (2.5±1.4) and (5.0±3.0) months, respectively. Twenty-six cases died in the first year after birth.Twenty-three patients with late onset PD (LOPD) presented with progressive muscle weakness. Seven of them had respiratory failure at diagnosis. The mean ages of symptom onset and diagnosis were (12.0±5.0) and (17.0±7.5) years, respectively. Six children with atypical IOPD showed motor delay, muscle weakness and cardiomyopathy. Their diagnosis was confirmed at 2.5-7.0 years of age. Among the 57 patients, 47 different variants were identified in the GAA gene. Three variants: c.797C>T, c.1109G>A and c.1757C>T were novel. c.1935C>A (25/114, 21.9%) and c.2238G>C (15/114, 13.2%) were the most common variants, detected in 57.1% of IOPD and 65.2% (15/23) of LOPD patients, respectively. Among the 28 IOPD patients, 26 cases (92.9%) carried at least one missense variant which indicated positive cross-reactive immunologic material (CRIM). The carrier rate of pathogenic variants in GAA gene among healthy children was 24/2 395. The estimated incidence of PD in this population is about 1/40 000. The frequencies of pseudodeficiency variants c.1726G>A and c.2065G>A homozygotes were 26.3% (15/57) and 35.1% (20/57) in PD patients, which were significantly higher than those (1.7% (40/2 395) and 3.9% (94/2 395)) in healthy children (χ2=151.2, 121.9; both P<0.01). Conclusions:PD presents as a spectrum, some as atypical IOPD. The c.1935C>A and c.2238G>C are common variants, correlated with IOPD and LOPD respectively. The c.796C>T and c.1082C>T are usually found in atypical IOPD. The majority of IOPD patients is predicted to be CRIM positive. The estimated incidence of PD is about 1/40 000.

Objectives To understand the demand characteristics and differences of the elderly people in urban and rural area of Chengdu for geriatric nursing personnel, and to provide a basis for the training and the resource allocation planning of geriatric nursing personnel. Methods A sample of 2 126 elderly people aged 60 and over who lived in the main urban areas of Chengdu and the suburbs (counties) for a long time were selected by convenience sampling method and investigated by a self-designed "knowledge, ability and quality of geriatric nursing personnel" questionnaire, of which 747 people were from the main urban areas and 1 379 people from the suburbs (counties). Results Urban and rural elderly people share common needs in terms of knowledge, ability and quality for geriatric nursing personnel, but there are also differences. The urban elderly people's require is higher, broader and more specific in content. Conclusions Regional differences and urban-rural differences should be taken into consideration in the training and resource setting of geriatric nursing personnel.

Objective To investigate the current situation in Chinese rheumatologic physicians' clinical diagnosis and evaluation of Takayasu's arteritis (TA).Methods Nineteen rheumatology experts and three vascular surgery specialists in China were invited to make the nationwide investigation for the first time about the diagnosis and disease activity evaluation of TA in China,through the questionnaire survey on the internet.Weighted average was used to calculate the average scores of corresponding problems.Results Chinese experts mainly adopted 1990 American College of Rheumatology (ACR) classification criteria for clinical diagnosis of TA.In details,symptoms of age,limb claudication and amaurosis,signs including pulselessness or pulse weakening,vascular bruits,increasing bilateral pulse pressure and hypertension and acute phase reactants (APR) were critical to the clinical diagnosis of TA.Besides,noninvasive imaging examinations,such as computed tomography angiography (CTA),magnetic resonance angiography (MRA),vascular ultrasonography,and positron emission tomography (PET) were also of great importance.In the aspect of disease activity assessment,Chinese experts mainly used Kerr scoring tool.APR and noninvasive radiological examinations were considered with vital value.Some TA patients with carotid artery involvement were recommended using vascular ultrasonography,while others with pulmonary artery and thoracic/abdominal aorta trunk involvement were preferred CTA other than MRA.Conclusions APR and noninvasive imaging examinations were thought with great help to make clinical diagnosis and evaluation of TA for Chinese physicians.

Giant Cell Tumors ; diagnosis ; Head and Neck Neoplasms ; diagnosis ; Humans ; Neck ; Soft Tissue Neoplasms ; diagnosis

Objective To investigate and compare the applications of white blood cell count (WBC),neutrophil percentage (N%),C reactive protein (CRP)and procalcitonin (PCT)in the detection of bacterial infections.Methods Patients were randomly recruited in the study,70 patients with bacterial infection disease were recruited in the study as bacterial infection group,81 patients without bacterial infection were enrolled as no infection group.WBC,N%,CRP and PCT were detected,then comparative analysis of test results performed.Results Compared with no bacterial infection group,WBC,N%,CRP and PCT were increased in bacterial infection group(P <0.05),CRP and PCT increased obviously.The positive rate of WBC,N%,CRP and PCT in bacterial infection group was significantly higher than that of no bacterial infection group(P <0.05).In the bacterial infection group,the positive rate of N%,CRP and PCT was significantly higher than that of WBC(P <0.05),the positive rate of CRP was higher than PCT(P <0.05).But the positive rate of CRP was relatively high,and PCT was low in no bacterial infection group,suggesting that the false positive rate of CRP was higher,while that of PCT was lower,which had higher specificity.Conclusion WBC,N%,CRP and PCT all have clinical value for bacterial infections diagnosis.For the diagnosis of bacterial infections,N%,CRP and PCT is superior to WBC.CRP is more sensitive,but less specific,therefore,PCT with higher specificity was more suitable in the diagnosis of bacterial infections.

Objective To detect brain structural difference between children with unexplained mental retardation and children with typically normal development. Methods The high-resolution magnetic MR imaging were obtained from 21 children with unexplained mental retardation and 30 age-matched control children without intellectual disabilities. Voxel-based morphometry analysis with an optimization of spatial segmentation and normalization procedures were applied to compare differences of gray matter volume between the two groups. The total and regional gray matter volume were compared between the two groups with independent t test. Meanwhile, correlation was conducted to analyze the relationship between the total gray matter volume and intelligence quotient (IQ) with partial correlation test. Results The total gray matter volume was significantly increased in the mental retardation children [(1. 012 ±0. 079) × 106 mm3]in relative to the controls [(0. 956 ± 0. 059) × 106 mm3, t = - 2. 80, P ＜ 0. 05]. Compared to controls,children with unexplained mental retardation showed significantly increased gray matter volume in different regions, including the bilateral thalami, the bilateral superior frontal gyri, the bilateral gyri rectus, the bilateral temporal poles, the right inferior frontal gyrus, right parahippocampal gyrus and the right cerebellum. No correlation was detected between the total gray matter volume and IQ in children with mental retardation (r = 0. 078 ,P ＞ 0. 05). Conclusions VBM would detect the gray matter abnormalities that were not founded in routine MR scanning. The increase of gray matter volume in the frontal-thalamus network might indicate the delayed maturation of the brain development. This might be one of the causations of mental retardation in children.

Objective To evaluate the efficacy and toxicities of gemcitabine combined with ifosfamide and anthracycline chemotherapy for recurrent platinum resistant ovarian epithelial cancer.Methods Gemcitabine 800 mg/m2 ( day 1, 8 ), ifosfamide 1.5 g/m2 ( day 1 - 3 ), adriamycin 40 mg/m2 or epirubicin 60 mg/m2 (day 1 ) or mitoxantrone 10 mg/m2 (day 1, 8 ) were used in recurrent platinum resistant/refractory ovarian cancer patients, the cycle was repeated at interval of 21 to 28 days.Results A total of 60 patients received 172 cycles combined chemotherapy.There were no one cases complete response, while partial response 22 (37%, 22/60), stable 23 (38%, 23/60) and progression 15 (25%,15/60) were observed, with clinical benefit rate 75% (45/60).The median time of progression-free survival was 7 months, and the median overall survival time was 20 months.The main side effect was hematologic toxicity with leukopenia rate of 82% (49/60), among which Ⅲ - Ⅳ accounted for 31%(15/49).Digestive reaction was all in Ⅰ - Ⅱ , accounted for 42% (25/60).Conclusion The regimen of gemcitabine combined with ifosfamide and anthracycline is feasible, tolerable and effective in patients with recurrent platinum resistant/refractory epithelial ovarian cancer.

Objective To discuss the clinical value of the "three-step" diagnostic routine in the diagnosis of cervical high-grade lesions. Method The women with the abnormal thinprep cytology test (TCT) underwent colposcopy and biopsy,the pathobiology result was the diagnostic standard. The sensitivity and specificity of the cervical high-grade lesions was calculated. Results The identify rate of the cervical high-grade lesions from the abnormal TCT was 22.3% (340/1524), the sensitivity was 27.1% (92/340), the specificity was 97.5% (1154/1184). The sensitivity of colposcopy was 47.9% (163/340), the specificity of colposcopy was 96.4% (1141/1184). Conclusion TCT with high sensitivity is used for preliminary screening, the colposcopic examination is used to pinpoint and evaluate the lesions,the detection rate and accuracy of cervical high-grade lesions can be improved.