Objective To explore the characteristics of echolalic speech of children with moderate to severe autism spectrum disor-der(ASD)aged three to eight. Methods From January to March,2024,15 minutes rehabilitation course video of five children with moderate to severe ASD aged three to eight were collected in institutional and family settings,respectively.Language sample analy-sis and self-compiled coding were used to analyze the echo speech sample content,structure,and collect their oral language ability.The correlation between the echo speech and case oral language ability was analyzed. Results A total of 235 echoic speech-related speech rounds were recorded.Among them,the ratio of immediacy to de-layed echo speech was 7∶1;one echo speech was found in every two to three speech responses,with average sen-tence length of 2.97 and average word length of 2.23.The frequency of verbs and nouns was high,accounting for 45.03%and 38.48%,respectively;and there were many declarative words and sentences,accounting for 72.58%on average.The type of echo speech structure was the most frequently at the end of the reconstructed discourse,accounting for 29.98%on average.The type,frequency,sentence length,sentence pattern and structure of echoic speech were not significantly different in institutional and family settings.The language ability scores of imita-tion sentence length,word understanding and naming were significantly correlated with the number,frequency,sentence length and sentence type frequency of echoic speech(r>0.881,P<0.01). Conclusion Echoic speech activity in children with moderate to severe ASD aged three to eight shows transsituational stability,and is related with their understanding language and expressive language ability;characterized as instant echo speech,short sentence,the advantage of real words,declarative sentences,often repeat the end of the origi-nal sentence.

OBJECTIVE: To investigate the clinical phenotype and genetic diagnosis of an infant featuring multiple hair and hyperbilirubinemia. METHODS: Conventional G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the patient were conducted, G-banding analyses of peripheral blood for the infant's parents were also performed. RESULTS: We investigated an infant who carries a unbalanced, maternally inherited karyotype 46, X, der (X) t (X;1) (p11.22; q21.3) in which CMA and FISH analyses disclosed a 1q21.3q44 duplication of 93.03 Mb and Xp22.33p11.22 deletion of 54.53 Mb. CONCLUSION The phenotypes of this infant can probably be attributed to the 1q21.3q44 duplication and Xp22.33p11.22 deletion, which were maternally inherited.
Chromosome Banding ; Chromosome Deletion ; Genetic Testing ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Translocation, Genetic

Objective:To compare the optimal gridpercutaneous vertebroplasty (PVP) and conventional PVP in the treatment of osteoporotic vertebral compression fractures (OVCFs).Methods:A retrospective cohort study was conducted of 102 patients with OVCFs who had underwent PVP between May 2016 and May 2019 at department of spine surgery, General Hospital of Northern Theater Command. According to the different surgical methods, they were divided into the optimalgrid PVP group (102 cases) and conventional PVP group (94 cases). In the optimal grid PVP group, there were 38 males and 64 females with an average age of 67.3±8.5 years old, and the course of disease was 2.3±1.2 days; the injured sites were lumbar vertebra, including 59 cases of L 1 vertebra, 31 cases of L 2 vertebra, 8 cases of L 3 vertebra, 3 cases of L 4 vertebra and 1 case of L 5 vertebra. In the conventional PVP group, there were 26 males and 68 females with an average age of 71.5±5.6 years old, and the course of disease was 2.1±1.1 days; the injured sites were lumbar vertebra, including 52 cases of L 1 vertebra, 33 cases of L 2 vertebra, 7 cases of L 3 vertebra and 2 cases of L 4 vertebra. The patients were prepared before operation. Then the best puncture point was selected, and the guide wire and working channel were inserted. Finally the bone cement was pushed. The operation time, intraoperative fluoroscopy times, bone cement dosage and bone cement leakage were compared between the two groups. Visual analogue scale (VAS), anterior heights and median heights of injured vertebra were compared between the two groups at postoperative 3 days, 3 months and the final follow-up. Results:There were no significant differences in the general clinical data between the two groups before operation ( P>0.05). All patients had no complications such as wound infection,pulmonary embolism,spinal cord embolism or death. The operation time, fluoroscopy times, bone cement dosage and bone cement permeability of the two groups were statistically significant different ( P<0.05), and the optimal grid group was better than the conventional group. VAS at 3 days, 3 months and the final follow-up was statistically significantlower in the optimal grid group than the conventional group ( P<0.05). There was no significant difference in the recovery of the anterior and middle edge heights of injured vertebra in the two groups 3 days after operation ( P>0.05), but there were statistical significant difference between the two groups3 months after operation and at the last follow-up ( P<0.05), whilethe optimal grid group was better than the conventional group. Conclusion:Compared with conventional PVP, the optimal grid PVP is safer and more effective in the treatment of osteoporotic vertebral compression fractures.

Objective:The research was aimed to investigate the association between serum total homocysteine (tHcy) and subacute combined degeneration of the spinal cord (SCD).Methods:A retrospective survey of 106 newly diagnosed patients with SCD were enrolled in this research who were treated in the department of neurology of Xijing Hospital from January 2008 to February 2019, meanwhile, 121 patients with spinal cord lesion (not SCD) and 104 neurology mild outpatients were selected as controls. Serum tHcy level was determined by using the chemiluminescent immunoassay assay. A multivariate logistic regression model was used to analyze the risk factors for SCD. The area under the curve (AUC) of the receiver operating characteristic (ROC) curve, sensitivity, specificity and Youden index were used to evaluate the diagnostic efficacy of tHcy. Spearman correlation analysis was used to observe the correlation between tHcy and SCD severity. The SCD patients were categorized into normal or mild tHcy group, moderate tHcy group, and severe tHcy group based on tHcy levels. Clinical symptoms, nerve conduction velocity, magnetic resonance imaging (MRI) findings from the patients were studied.Results:The serum tHcy levels in SCD patients were 64.3(26.5, 98.8) μmol/L, while in patients with spinal cord lesion (not SCD) group were 13.7(10.8, 19.2) μmol/L, neurology mild outpatients were 10.6(8.2, 13.0) μmol/L, which was higher in SCD group ( H=112.020, P<0.001), ( H=165.525, P<0.001).The multivariate logistic regression model showed tHcy is the impact factor of SCD ( OR=1.107, 95% CI:1.077-1.139, P<0.001). At ROC analysis, tHcy showed diagnostic value with an optimal cut-off value of 24.9 μmol/L (AUC 0.913, 95% CI: 0.875-0.951, sensitivity 79.2%, specificity 91.6%). Spearman correlation analysis showed that tHcy was positively correlated with functional disability rating scale ( r=0.254, P=0.009). Conclusions:Serum tHcy is the risk factor for SCD and related to its disability. Focus on the increased level of tHcy plays a positive role in the diagnosis of SCD.

Objective:The research was aimed to investigate the association between serum total homocysteine (tHcy) and subacute combined degeneration of the spinal cord (SCD).Methods:A retrospective survey of 106 newly diagnosed patients with SCD were enrolled in this research who were treated in the department of neurology of Xijing Hospital from January 2008 to February 2019, meanwhile, 121 patients with spinal cord lesion (not SCD) and 104 neurology mild outpatients were selected as controls. Serum tHcy level was determined by using the chemiluminescent immunoassay assay. A multivariate logistic regression model was used to analyze the risk factors for SCD. The area under the curve (AUC) of the receiver operating characteristic (ROC) curve, sensitivity, specificity and Youden index were used to evaluate the diagnostic efficacy of tHcy. Spearman correlation analysis was used to observe the correlation between tHcy and SCD severity. The SCD patients were categorized into normal or mild tHcy group, moderate tHcy group, and severe tHcy group based on tHcy levels. Clinical symptoms, nerve conduction velocity, magnetic resonance imaging (MRI) findings from the patients were studied.Results:The serum tHcy levels in SCD patients were 64.3(26.5, 98.8) μmol/L, while in patients with spinal cord lesion (not SCD) group were 13.7(10.8, 19.2) μmol/L, neurology mild outpatients were 10.6(8.2, 13.0) μmol/L, which was higher in SCD group ( H=112.020, P<0.001), ( H=165.525, P<0.001).The multivariate logistic regression model showed tHcy is the impact factor of SCD ( OR=1.107, 95% CI:1.077-1.139, P<0.001). At ROC analysis, tHcy showed diagnostic value with an optimal cut-off value of 24.9 μmol/L (AUC 0.913, 95% CI: 0.875-0.951, sensitivity 79.2%, specificity 91.6%). Spearman correlation analysis showed that tHcy was positively correlated with functional disability rating scale ( r=0.254, P=0.009). Conclusions:Serum tHcy is the risk factor for SCD and related to its disability. Focus on the increased level of tHcy plays a positive role in the diagnosis of SCD.

OBJECTIVE: To screen for Vel- rare blood type donors and determine the frequency of SMIM1 c.64_80del allele in Yili Prefecture of Xinjiang, China. METHODS: DNA pooling and PCR-sequence-specific primers (PCR-SSP) was conducted to screen individuals carrying the SMIM1 c.64_80del variant, and Sanger sequencing of SMIM1 exon 3 was carried out to verify the genotype of those with the variation. SMIM1 intron 2 was also sequenced to identify single nucleotide polymorphisms (SNPs) that may affect the expression of Vel antigen. RESULTS: Among 3328 blood donors, 14 were identified as heterozygotes for the SMIM1 c.64_80del allele, its allele frequency was 0.21%; no homozygous SMIM1 c.64_80 deletions was found. For SNP rs1175550, all of the 14 individuals had an AA genotype, among whom 5 carried heterozygous 7111ins GCA variant in intron 2. CONCLUSION The allelic frequency of SMIM1 c.64_80del in Yili area is approximately 0.21%, which is reported for the first time.
Alleles ; Blood Group Antigens/genetics* ; China ; Gene Frequency ; Genetic Variation/genetics* ; Genotype ; Humans ; Membrane Proteins/genetics* ; Polymorphism, Single Nucleotide/genetics*

Objective:To investigate the levels of glypican 3 (GPC3) and alpha-fetoprotein (AFP) in the serum of patients with primary liver cancer and its diagnostic value in liver cancer.Methods:A total of 277 patients with primary liver cancer, 108 patients with gastric cancer, 40 patients with hepatitis alone, 19 patients with hepatitis combined with other cancers other than liver cancer and 54 healthy controls in Shanxi Provincial Cancer Hospital between June 2018 and January 2019 were collected. The serum samples from all patients were taken. Enzyme linked immunosorbent assay (ELISA) was used to detect GPC3 level in all specimens. Electrochemiluminescence was used to detect the level of AFP. The diagnostic value of GPC3 or AFP alone and a combination of both for liver cancer was also compared. The relationship between GPC3 and AFP was also analyzed.Results:The serum GPC3 level [median (interquartile range)] in primary liver cancer, gastric cancer, the hepatitis only, the hepatitis combined with other cancer and healthy control was 0.079 ng/ml (0.198 ng/ml), 0.048 ng/ml (0.044 ng/ml), 0.073 ng/ml (0.053 ng/ml), 0.050 ng/ml (0.018 ng/ml), 0.023 ng/ml (0.011 ng/ml), respectively. The GPC3 level in the primary liver cancer was higher than that in the gastric cancer, hepatitis combined with other cancers other than liver cancer, the healthy controls (all P < 0.05), and there was no statistically significant difference in the level of GPC3 between the primary liver cancer and the hepatitis only ( P = 0.520). The sensitivity and specificity of GPC3 for the diagnosis of primary liver cancer was 69.5% and 94.4%, respectively. The sensitivity and specificity of AFP for the diagnosis of primary liver cancer was 63.9% and 94.0%, respectively. The sensitivity and specificity of the combined detection of liver cancer was 80.2% and 94.3%, respectively. The ratio of positive likelihood ratio and negative likelihood ratio was 38.42, 27.73 and 67.01, respectively in liver cancer diagnosed with GPC3, AFP and both of them. The expression of serum GPC3 was associated with AFP ( r = 0.34, P < 0.01). Conclusions:The detection of GPC3 combined with AFP can increase the detection rate of primary liver cancer, and it has a certain clinical significance in the early screening and diagnosis of primary liver cancer.

Objective:To explore the safety and clinical value of ultrasound-guided percutaneous core needle biopsy in the diagnosis of cardiac intermural tumors and pericardial tumors.Methods:Seven patients who underwent ultrasound-guided percutaneous cardiac tumors needle biopsy in Fujian Provincial Hospital from January 2012 to December 2019 were selected for this study. The locations and sizes of the lesions were recorded preoperatively by echocardiography and the operation time was recorded by conventional ultrasonography. The postoperative complications was followed up, and the satisfaction of pathological materials was used as the evaluation standard to comprehensively analyze the safety and clinical application value of ultrasound-guided percutaneous biopsy in the diagnosis of cardiac tumors.Results:Ultrasound-guided percutaneous biopsy was performed successfully in all the 7 cases, 3 of them were intermural tumors and 4 of them were pericardial tumors. Except for 2 patients with diffuse pericardial space, the maximum diameter of the remaining 5 patients was (58.6±23.5)mm. Six cases were punctured from the apex of the heart, and 1 case from the left parasternal through third intercostal space toward the bottom of the heart as the needle pathway. The satisfaction of pathological material was 100%, and the time of procedure was (15.1±3.3)min. There were no postoperative complications such as bleeding, infection or arrhythmia.Conclusions:Ultrasound-guided percutaneous transthoracic needle biopsy is safe and feasible, which provides a simple and easy method for the biopsy of cardiac intramural tumors and pericardial tumors.

Objective:To understand the etiological characteristics of an acute gastroenteritis outbreak.Methods:Real-time polymerase chain reaction (PCR) and bacteria cultures were performed for the samples, including stool samples from patients and cooks, environmental swabs, raw food material (chicken meat), collected during the outbreak. Pulsed-field gel electrophoresis, antibiotics susceptibility test and whole-genome sequencing were performed for the Campylobacter jejuni isolates. Results:Four stool samples from patients were positive for Campylobacter jejuni by real-time PCR, in which 1 Campylobacter jejuni strain was isolated from a case who had no antibiotic treatment. Twelve Campylobacter jejuni and 7 Campylobacter coli isolates were obtained from 4 raw chicken meat samples. The Campylobacter jejuni strain isolated from the case was resistant to nalidixic acid, ciprofloxacin, chloramphenicol, florfenicol and tetracycline. The MLST analysis with the whole-genome sequences confirmed that the Campylobacter jejuni isolate from the case belonged to ST10075. Antimicrobial resistance genes cmeABCR, tetO/M and blaOXA-61 were found in the genome of the isolate from the patient by the whole-genome sequencing. No mutation in 23S rRNA was found and the C257T mutation in gyrA was identified in this isolate. Conclusion:Laboratory analysis indicated that Campylobacter jejuni infection might be the major cause of this gastroenteritis outbreak.

Objective The aim of this study was to investigate the dosimetric advantages of Gating in the treatment of prima-ry hepatic cancer with large segmentation. Methods A retrospective analysis of 10 patients with primary liver cancer from August 2017 to November 2018 after interventional therapy was performed using three consecutive phases of end-tidal phase to achieve pa-tient-controlled large-segment radiotherapy. Ten patients underwent 4DCT localization scan,and 10 respiratory phase sequences were reconstructed by respiratory wave-form,and the images were transmitted to the MIM6. 7. 6 workstation. In the MIM workstation, full-time phase maximum density projection(MIP-10),full-time phase average density projection(Mean-10),end-expiration 3 phase maximum density projection(MIP-3) and end-expiration 3 phase average density projection( Mean-3) were generated re-spectively,where MIP was used for target delineation and Mean for dose calculation. The radiotherapy doctor delineated IGTV-10 and IGTV-3 on the MIM workstation,and released CTV-10,CTV-3,PTV-10 and PTV-3 to compare the volume differences of the target area. After the target area was drawn,the image was transmitted from the MIM workstation to the Eclipse treatment planning sys-tem,and the full-time phase plan(Plan-10)with the same conditions and three consecutive phase-phase gating plans(Plan-3) were prepared. The prescriptive dosage was given at 50 Gy/10 f/2weeks. Comparing the HI and CI of the target area,the comparison of organs at risk included: the average dose of liver Dmean,the irradiation volume of liver less than 15Gy,the Dmax of small intestine, the Dmax of colon, the Dmax of stomach, the average dose of the kidney Dmean, the heart Dmax, and the spinal cord Dmax. Results The volume of the target area delineated at the end of expiratory phase was less than that of the target area outlined by the full-time phase in IGTV,CTV and PTV,and the difference was statistically significant(P<0. 05). In the two groups of seven field coplanar lage-segment radiotherapy plans,the 3-phase respiratory gating plan significantly reduced the dose of the organs at risk, and the difference was statistically significant(P<0. 05). At the same time,there was no statistically difference in the HI and CI be-tween of the two groups(P>0. 05). Conclusion The gated target area delineation and planning design of the three consecutive pha-ses of end-tidal phase reduce the volume of IGTV,CTV and PTV target regions compared with the selection of full-time phase,and have obvious advantages in the planned dosimetry. The irradiation dose that threatens the organs is worthy of being promoted and ap-plied in the large-scale radiotherapy of liver cancer.