Treacher Collins syndrome (TCS, OMIM 154500), also known as Franceschetti-Klein syndrome, is a rare disorder that affects the first and second branchial arches. The estimated incidence is 1/50 000 live births. Mutations in TCOF1 (78%-93%) and POLR1C or POLR1D (8%) cause the disease. Most of TCS cases are inherited in a dominant pattern, while a small proportion are inherited in a recessive pattern. TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psychosocial. For hearing rehabilitation, TCS patients may have the choices of BAHA, ponto, vibrant soundbridge or bonebridge implantation. In this review, we summarize the TCS clinical malformations, diagnosis, genetics, management and auditory rehabilitation.
DNA-Directed RNA Polymerases ; genetics ; Facial Bones ; abnormalities ; Humans ; Mandibulofacial Dysostosis ; diagnosis ; genetics ; rehabilitation ; Mutation ; Nuclear Proteins ; genetics ; Phosphoproteins ; genetics

Objective To investigate the influence of Norcantharidin(NCTD)on apoptosis-related gene expression of gastric cancer cell line SGC-7901.Methods The experiment was divided into control group,5-Fu group,NCTD group and 5-Fu+NCTD group.The inhibitory rate,apoptosis rate and expression of survivin,bcl-2,and caspase-3 were detected by MTT assay,flow cytometry and SABC immunohistochemical method,respectively.Results NCTD showed that the inhibitory effect on growth of SGC-7901 cells with a dose-and time-effective dependent manner.The apoptotic rate increased from(8.30?1.49)% to(20.56? 1.32)%.The expressions of survivin decreased from(86.57?4.39)% to(26.11?2.27)% and bcl-2 from(85.35? 3.25)% to(30.26?1.83)%,while caspase-3 increased from(54.49?3.07)% to(92.78?2.47)%,5-Fu had the synergistic effects with NCTD.Conclusion NCTD can inhibit the growth of SGC-7901 cell lines.5-Fu had the synergistic effects with NCTD.The mechanism might correlate with induction of cell apoptosis via effect of the expression of apoptotic-related genes such as survivin,bcl-2 and caspase-3.

Adjuvants, Immunologic ; therapeutic use ; Astragalus Plant ; Child ; Child, Preschool ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Infant ; Male ; Nucleic Acids ; therapeutic use ; Phytotherapy ; Pneumonia ; drug therapy ; immunology ; Recurrence ; Respiratory Tract Infections ; drug therapy ; immunology ; Tyrosine ; therapeutic use

Urid acid is one of the terminal metabolites of human body.More and more attention was paid to its metabolic mechanisms in intestinal tract;however, few studies were seen so far.This study aims to illuminate the metabolic mechanism of uric acid in intestinal tract by two ways:one is the transporters associated with intestinal epithelium, including ABCG2 and SLC2A9, the other is decomposition of uric acid by intestinal flora.We hope this review can provide new insights to decrease blood uric acid and treat urate-related diseases, and also provide a new way to alleviate drug-induced kidney damage.

Objective To establish a method to quantify the residual cross-linker vinyl sulfone and its hydration product 1 ,4-Thioxane-1 ,1-Dioxide.Methods The polysaccharide was precipitated by ethanol,however vinyl sulfone and its hydration product were soluble,and can be analyzed by direct injection.The analysis was carried on Agilent DB-wax capillary column (30m ×0.53 mm,1.0 μm).The flame ionization detector (FID)and flame photometric detector (FPD)were used to detect samples and the efficiency were compared. Results The linear range of vinyl sulfone and its hydration product were separately 0.5 ~20μg/mL and 2~100μg/mL detected by FID.The Limit of Quantity (LOQ)were 0.8μg/mL and 2.3μg/mL, respctively.The Limit of Detection (LOD)were 2.6μg/mLand 7.6μg/mL,respectively,and the average recoveries (n=9)of them were 104.3%and 92.4%,respectively.Conclusion FID could meet the needs of the test,and this method is simple and accurate with high sensitivity and good repeatability,which can be used for quality control of trace vinyl sulfone and its hydration products 1 ,4-Thioxane-1 ,1-Dioxide in cross-linked sodium hyaluronate injection.

Objective To master the running conditions of water project and the defluoridation results in monitoring sites of drink-water type fluorosis in Shaanxi Province,to provide a scientific basis of preventing and controlling endemic fluoroisis. Methods Every April and September 1998—2005 children aged 8～12 at school from the two monitoring sites of Wupo and Bayi village received the dental fluorosis examination by using the Deans method.The urine samples of 50 children from 5 age groups who were selected randomly and were grouped in 5 with 10 children each were collected,measured in accordance with WS/T 89—1996 Determination of Fluoride in Urinlon Selective Electrode Method,evaluated by Manual of Endemic Fluorosis Control(1991). At least 5 water samples were collected randomly from five directions(east,west,north,south,center).The fluoride contents in urine and drinking water were determined with FSIE,in accordance with GB/T 5750--2006 Standard Examination Methods for Drinking Water,evaluated by GB 5749—2006 Standards for Drinking Water Quality.Results After changing water,morbidity rate of children dental fluorosis fell from 66.67%in 1998 to 31.79%in 2005 and the dental fluorosis index also fell form 1.49 to 0.65 of Wupo village,morbidity rate of children dental fluorosis fell from 33.15%in 1998 to 13.10%in 2005 and the dental fluorosis index also fell from 0.50 to 0.24 of Bayi village.The fluoride contents in urine of children and the fluoride contents in drinking water were maintained stability.Conclusion After water improvement,the fluorosis has been effectively controlled in a certain degree in the investigated area.

Objective To report the preliminary experiences in the treatment of old unstable thoracolumbar vertebral fractures by using anterior decompression, bone graft or titanium mesh and internal fixation with Z-plate system. Methods There were 23 cases (18 males and 5 females) with age range of 25-66 years (mean 41.7 years) as well as thoracolumbar vertebral fracture history for 1.2-28 years (mean 5.6 years). All cases complained of severe lower back pain, 17 of whom had slight neurological deficits (Frankel Grade D). Preoperative radiographic evaluation showed that all 23 cases had various degrees of kyphosis (25?-40?, averaged 34?), spinal cord compression and vertebral instability. Of 23 cases, 15 were treated with anterior decompression, full-thickness iliac crest autograft and internal fixation with Z-plate and the other 8 with titanium mesh instead of full-thickness iliac crest autograft. Results No severe complications happened during and after operation. The lower back pain and neurological deficits were improved or disappeared 2-3 months postoperatively. The average kyphotic correction degrees ranged from preoperative 34? to postoperative 12?. No patients' symptoms worsened during follow-up. In three cases with preoperative Frankel Grade D, the myodynamia recovered slightly but the Frankel Grade remained unchanged. The postoperative MRI examinations showed that vertebral canals were well decompressed. Conclusions Anterior decompression, autograft or titanium mesh and internal fixation with Z-plate are proved to be safe and effective techniques for clinical management of old thoracolumbar fractures, for they have advantages in effective decompression of neural structures, high healing rate of autograft and correction of kyphotic deformity.

Objective To determine the correlation between the Modic degeneration of lumbar endplate on MRI and the pain provocation or degeneration of lumbar intervertebral discs observed on CT discography. Methods One hundred and twenty lumbar intervertebral discs (40 L3-4, 40 L4-5, 40 L5S1 intervertebral discs) of 40 patients among 45 patients were examined. 120 intervertebral discs underwent discography guided by CT scan, according to Dallas Discography Description system, degeneration of lumbar intervertebral disc were divided into 0-3 grade, and pain provocation were graded into negative, indifferent and positive. On the basis of Modic classification system of the lumbar endplate changes and Pearce classification system of the degeneration of lumbar intervertebral disc, the lumbar endplate changes were divided into 0-3 grade, the degeneration of lumbar intervertebral disc were graded into Ⅰ-Ⅴ. All the results were analysed by Chi-Square test for the correlations. Results There was positive correlation between pain provocation test and the lumbar endplate Modic degeneration; There was a positive correlation between the Modic degeneration of lumbar endplate and the degeneration of lumbar intervertebral disc and so is the relation between the CT discography and MRI on discs. Conclusion There is positive correlation between pain provocation test and the Modic degeneration of lumbar endplate, it suggest the endplate might be one of the sources of low back pain. There is a positive correlation between the Modic degeneration of lumbar endplate and the degeneration of lumbar intervertebral disc.

Objective To understand the situation of indoor air fluoride and arsenic pollution caused by coal-burning and the impact of the pollution on children health in the rural area,southern Shaanxi Province.Method 77 fluoride samples and 186 arsenic samples were collected in 65 investigated villages of 5 counties in southern Shaanxi Province.13 120 children aged 8-12 years were selected for dental fluorosis examination,13 386 children aged 6-18 years for arsenism examination.Results Both of the average content of fluoride and arsenic in the indoor air exceeded the national standard limit.Fluorine content was 0.001-0.541 mg/m3 with an average of 0.038 4 mg/m3,arsenic content was 0.00-63.83 ?g/m3 with an average of 4.76 ?g/m3.The prevalence rates of dental fluorosis and arsenism were 45.50% and 1.86% respectively.Conclusion The indoor air fluoride and arsenic pollution caused by coal-burning in the investigated rural area is serious and the pollution has caused the prevalence of endemic fluorosis and endemic arsenism among the local children.

Oculo-auriculo-vertebral spectrum (OAVS), also known as Goldenhar syndrome, hemifacial microsomia, oculo-auriculo-vertebral dysplasia and facio-auriculo-vertebral spectrum, is a developmental disorder associated with the first and second branchial arches. Most cases are sporadic, while some familial instances observed suggested that the etiology of OAVS heterogeneous. In this review, we summarize the OAVS epidemiology, classification and mainlyheterogeneous etiology.
Goldenhar Syndrome ; pathology ; Humans