Objective To analyze the clinical and genetic features of a Chinese family with nonsyndromic hearing loss ,and to find deafness‐causing mutations in the GJB2 gene .Methods After a detailed history and clinical examination ,genomic DNA was ex‐tracted from peripheral blood for the proband and their family members .Two exons of the GJB2 gene was amplified by polymerase chain reaction ,and the PCR products were subjected to automatic DNA sequencing .Finally ,the mutation analysis was performed by SeqMan software of DNASTAR to compare BLAST .Results All patients in this family had late‐onset and progressive hearing loss and ultimately involved all frequencies .Six SNP polymorphisms were found in this pedigree ,which were previously reported world‐wide ,c .79G > A(p .Val27Ile) ,c .341G > A(p .Glu114Gly) ,were also identified in this family .Four single nucleotide polymorphisms (SNPs) were firstly identified in the GJB2 3′‐UTR ,including g .4159T > C ,g .5142G/T ,g .5227G/A ,g .5352T /C .Two SNPs .Con‐clusion Mutation in exons of GJB2 gene was excluded as a pathogenic cause for nonsyndromic hearing loss in this family .

Objective To investigate the effects of nasojejunal feeding plus nasogastric tube decompression in severe hypertensive intracerebral hemorrhage complicated with gastroparesis.Methods Fifty-six cases of severe hypertensive intracerebral hemorrhage complicated with gastroparesis admitted to hospital from January 2011 to June 2014 were chosen as study group, while the 52 cases of similar patients admitted to hospital from January 2007 to December 2010 were chosen as control group.Nasojejunal feeding and nasogastric tube decompression were given to the study group.Nasogastric enteral nutrition support therapy was firstly given to the control group conventionally,after 15 days if they still could to be tolerant of the enteral nutrition,then parenteral nutrition therapy were adopted.The weight, serum albumin, prealbumin and hemoglobin circumstances of the two groups were determined and the complications were recorded.The patients were followed up according to activity of daily liying(ADL) after 3 months.Results There was no significant difference on the average body weigh between two groups before treatment.The average body weight of the study group was significantly higher than that of the control group after 4 weeks treatment((57.2±5.3) kg vs.(52.8±4.9) kg,t=4.33,P＜0.01).The serum albumin, pre albumin and hemoglobin of 3 week, four week after treatment were significantly higher than those of the control group(serum albumin of 3 week: (34.5±3.3) g/L vs.(30.7±3.1) g/L;erum albumin of four week:(37.8±3.8) g/L vs.(34.1 ± 3.4) g/L;serum prealbumin of 3 week:(202.3± 16.7) g/L vs.(179.6 ±15.2) g/L;serum prealbumin of four week: (216.9±17.1) g/L vs.(203.1±15.4) g/L;hemoglobin of 3 week : (119.4± 12.1) g/L vs.(107.7 ± 11.3) g/L;hemoglobin of four week : (126.2± 12.8) g/L vs.(113.5 ±11.9) g/L).Nutritional status of study group was significantly better than that of the control group(t=6.16, 5.32,7.37,4.85,5.18,5.32;P＜0.01), and complications was significantly less than that of the control group (P＜0.05).After three months, the good prognosis rate of study group (80.36％ (45/56)) was significantly higher than that of the control group (6 1.54％ (32/52)), the difference was statistically significant (x2 =4.67, P ＜0.05).Conclusion Nasojejunal feeding plus nasogastric tube decompression for patients with severe hypertensive intracerebral hemorrhage with gastroparesis can improve nutritional status, enhance their body resistance, reduce the incidence of complications, and improve their prognosis.

Schinzel-Giedion syndrome is a rare autosomal dominant genetic disease and has the clinical features of severe delayed development, unusual facies, and multiple congenital malformations. In this case report, a 14-month-old boy had the clinical manifestations of delayed development, unusual facies (prominent forehead, midface retraction, hypertelorism, low-set ears, upturned nose, and micrognathia), and multiple congenital malformations (including cerebral dysplasia, dislocation of the hip joint, and cryptorchidism). The karyotype analysis and copy number variations showed no abnormalities, and whole exon sequencing showed a de novo heterozygous missense mutation, c.2602G > A (p. D868N), in SETBP1 gene. Therefore, the boy was diagnosed with Schinzel-Giedion syndrome. Myoclonic seizures in this boy were well controlled by sodium valproate treatment, and his language development was also improved after rehabilitation treatment. Clinical physicians should improve their ability to recognize such rare diseases, and Schinzel-Giedion syndrome should be considered for children with unusual facies, delayed development, and multiple malformations. Gene detection may help with the diagnosis of this disease.
Abnormalities, Multiple ; diagnosis ; genetics ; Craniofacial Abnormalities ; diagnosis ; genetics ; Developmental Disabilities ; diagnosis ; Face ; abnormalities ; Hand Deformities, Congenital ; diagnosis ; genetics ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Nails, Malformed ; diagnosis ; genetics

BACKGROUND: Aromatic polyester can not be used alone as degradable material due to its poor biodegradation. In the School of Materials Science and Engineering, Nanchang University, aromatic/aliphatic copolyesters, a new kind of degradable biomaterial is synthesized by melt co-polycondensation and transesterification of terephthalyl chloride, bisphenol A, hexanediol as well as low lacticacid polymer, which has been patented. OBJECTIVE: To study the biocompatibility between aromatic/aliphatic copolyesters and bone marrow mesenchymal stem cells (BM-MSCs) in rats. DESIGN, TIME AND SETTING: An in vitro cellular-materials experiment. The experiment was performed at the Institute of Urology, the First Affiliated Hospital of Nanchang University between April 2006 and April 2007. MATERIALS: Five healthy, adult, male, Sprague Dawley rats were provided by the experimental animal center of Jiangxi University of Traditional Chinese Medicine. The bio-degradable polyester was aromatic/aliphatic copolyesters prepared by our group. METHODS: A new degradable biomaterial poly (4,4'-isopropylidenediphenyl terephthalate)-co-poly(hexylene terephthalate)-co-polylactide (PBHTL) was prepared into biomembrane by casting method. Simultaneously, polyvinyl chloride biomembrane was prepared with the same method. The leaching liquor of biomembrane was collected when the biomembranes were sterilized and immersed in culture medium. The BM-MSCs of rats with the 3~(rd) or 4(th) passage were incubated at the 96-well plates with density of 2×10~7/L and at 24-well plate with 1.3×10~5 per well. The experiment divided into 3 groups. In the negative control group, cells were cultured with DMEM. In the experimental group, 12.5%, 25%, 50%. 100% material leaching liquor were additional added based on DMEM. In the positive group, polyvinyl chloride leaching liquor was added except DMEM. MAIN OUTCOME MEASURES: The cytotoxicity of material was evaluated by neutral red uptake assay, basic fuchsin staining and MTT method. Growth of BM-MSCs on aromatic/aliphatic copolyesters membrane was estimated by electron microscope. RESULTS: The cell viability and metabolic capability were decreased 11%-16% in the positive control group at days 1, 3, 5, and 7 after culture. The absorbance value of the experimental group was significantly different from the positive control group (P < 0.001), which increased cell viability and metabolic capability with time prolonged (1%-4%). However, there was not obviouslydifference between the experimental group and negative group in absorbance value (P> 0.05). Acridine orange/ethylene dibromide staining showed that the BM-MSCs attached and grew in spindle-like manner on the surface of aromatic/aliphatic copolyesters biomembrane, which increased cell number with decreased apoptosis rate with time prolonged. CONCLUSION: The results demonstrated that aromatic/aliphatic copolyesters membrane has no eligible cytotoxicity to cell growth with good cell compatibility, which meets the requirements for applied biomaterials.

This study was aimed to search anti-platelet aggregation effectors from Gardenia jasminoides extract with the employment of platelet affinity extraction method coupled with HPLC, in order to provide pharmacological experi-mental evidences of the selected effectors to verify its feasibility. Under physiological conditions, washed rat platelets were added into G. jasminoides extract and then a mixture was gained. Consequently, some components from G. jas-minoides extract were combined to the platelets in the mixture while some were not owing to their special chemical structures and properties. Firstly, the uncombined components were washed off from the mixture. Secondly, the com-bined components in the leftover was washed down and collected, respectively, right after destroying the occupied platelets' structures. Thirdly, different collected eluents were analyzed, respectively, by HPLC established in the pre-vious work to search the effectors. Fourthly, pharmacological experiments were implemented for confirmation. The re-sults showed that dominant effective components from G. jasminoides extract acting on anti-platelet aggregation were identified as geniposide. Further evident was provided as well by pharmacological experiment that geniposide exhibit-ed significant inhibitory effect on anti-platelet aggregation in rats induced by ADP, rat tail collagen and thrombin(P< 0.01). It was concluded that the platelet affinity extraction-HPLC method proposed in this paper can be utilized to analyze the correlation of effectors from G. jasminoides extract and its pharmacological effects. Moreover, there are some correlations between screened chemical substances and their pharmacological effects.

OBJECTIVETo identify potential mutations in a Chinese family with Usher syndrome type II.

METHODSGenomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls.

RESULTSThe patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database.

CONCLUSIONThe novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.

Adult ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; China ; DNA Mutational Analysis ; Extracellular Matrix Proteins ; genetics ; Female ; Hearing ; Heterozygote ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Usher Syndromes ; genetics ; physiopathology

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; China ; Deafness ; genetics ; Female ; Humans ; Male ; Pedigree ; Young Adult

OBJECTIVETo investigate the construct validity of the Autism Spectrum Rating Scale of Revised Chinese Version (RC-ASRS).

METHODSSeven hundred and one children aged 6-12 years old were recruited from one primary school in the Minhang District of Shanghai. The parents of the children completed the RC-ASRS questionnaire. Mpuls 6.0 Software was used to conduct the construct validity analysis.

RESULTSA total of 671 questionnaires (95.7%) were retrieved, involving 368 boys (54.8%) and 303 girls (45.2%). The 3 factor structure of the RC-ASRS had better model fitting indices, 0.051 for root mean square error of approximation (RMSEA), 0.889 for comparative fit index (CFI) and 0.884 for Tucker-Lewis index (TLI), compared with the original ASRS, 0.060 for RMSEA, 0.829 for CFI and 0.823 for TLI.

CONCLUSIONSThe RC-ASRS may serve as a reliable and valid tool for screening autistic symptoms in China.

Autistic Disorder ; diagnosis ; Child ; Child, Preschool ; Female ; Humans ; Male ; Reproducibility of Results ; Surveys and Questionnaires

OBJECTIVE: To investigate the incidence of autism spectrum disorder (ASD)-like symptoms in the population with intellectual disability (ID). METHODS: The students with ASD or ID, aged 6-18 years, who studied in a special school in Shanghai from January to June, 2017, as well as the typically developing (TD) population of the same age, who studied in a general school in Shanghai during the same period, were enrolled. Social Responsiveness Scale (SRS) was completed by their parents or other guardians, and the ASD-like symptoms were evaluated. RESULTS: A total of 69 subjects with ASD, 74 subjects with ID and 177 TD subjects were enrolled. The ID group had a significantly higher SRS-positive rate than the TD group (47.3% vs 1.7%; P<0.001) and a significantly lower SRS-positive rate than the ASD group (47.3% vs 87.0%; P<0.001). The total score of SRS was 114±26 in the ASD group, 80±24 in the ID group and 38±19 in the TD group. The ID group had a significantly higher total score of SRS than the TD group (P<0.05), and the score on the subscale of social cognition showed the most significant difference between the two groups (Cohen's d=2.00). There were no significant differences in the total score of SRS and the scores on each subscale of SRS between the mild-to-moderate ID and severe-to-extremely severe ID groups (P>0.05), and there was no significant correlation between SRS score and IQ (P>0.05). CONCLUSIONS The ID population aged 6-18 years has more ASD-like symptoms than the general population, and ASD screening and intervention should be performed for the ID population as early as possible.
Adolescent ; Autism Spectrum Disorder ; Child ; China ; Humans ; Intellectual Disability ; Parents ; Social Behavior

The Autism Spectrum Rating Scale (ASRS) and the Social Responsiveness Scale (SRS) have been widely used for screening autism spectrum disorder (ASD) in the general population during epidemiological studies, but studies of individuals with intellectual disability (ID) are quite limited. Therefore, we recruited the parents/caregivers of 204 ASD cases, 71 ID cases aged 6-18 years from special education schools, and 402 typically developing (TD) children in the same age span from a community-based population to complete the ASRS and SRS. The results showed that the ID group scored significantly lower on total and subscale scores than the ASD group on both scales (P < 0.05) but higher than TD children (P < 0.05). Receiver operating characteristic analyses demonstrated a similar fair performance in discriminating ASD from ID with the ASRS (area under the curve (AUC) = 0.709, sensitivity = 77.0%, specificity = 52.1%, positive predictive value (PPV) = 82.2%) and the SRS (AUC = 0.742, sensitivity = 59.8%, specificity = 77.5%, PPV = 88.4%). The results showed that individuals with ID had clear autistic traits and discriminating ASD from ID cases was quite challenging, while assessment tools such as ASRS and SRS, help to some degree.
Adolescent ; Age Distribution ; Age Factors ; Autism Spectrum Disorder ; complications ; psychology ; Child ; China ; Female ; Humans ; Intellectual Disability ; etiology ; Male ; Psychiatric Status Rating Scales ; Psychometrics ; Retrospective Studies ; Social Behavior ; Statistics, Nonparametric