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

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.

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

OBJECTIVEUsing questionnaires to evaluate the audiological benefit and satisfaction of bilateral aural atresia patients with bone-anchored hearing aid (Baha).

METHODSImplanted Baha user questionnaire was applied to 19 patients suffering bilateral aural atresia, and 15 of the patients were evaluated with abbreviated profile of hearing aid benefit (APHAB). Glasgow children's benefit inventory (GCBI) was used to measure subjective benefit of patients under the age of 18.

RESULTSThe Baha user questionnaire demonstrated great satisfaction. The mean Baha scores for the subdomains of ease of communication (EC), backgroud noise (BN) and revereration (RV) were decreased by 54.6 ± 10.2 (t = 20.6, P < 0.05), 46.9 ± 11.1 (t = 16.4, P < 0.05) and 58.8 ±15.4 (t = 21.4, P < 0.05) compared to the unaided scores. For the subdomain of aversiveness (AV), the Baha score was 56.7 ± 9.9 (t = 10.8, P < 0.05) higher than the unaided score. The general benefit score GCBI was 41.1 ± 13.0.

CONCLUSIONBaha can significantly improve hearing ability and quality of life of patients with bilateral aural atresia.

It is the measurement of high-loss dielectric to measure the permittivity and conductivity of biologic tissue.But now it is difficult to measure them accurately.Good result is got by measuring complex permittivity of phantom model at2450MHz using perturbation method,which is meaningful for the research on biologic tissue simulation by phantom model.

It is a kind of precise method tomeasure the complex permittivities of the phantom model by vector network analyzer.But it is difficult tomeasure them accurately because the phantom model is jelly-like gel and is hard tobe shaped.Network decompositon method can be used toresolve it and it has great meaning tostudy the phantom model simulating the biologic tissue.

OBJECTIVE: To evaluate auditory developments and the effectiveness of children with congenital bilateral aural atresia after using softband Ponto and to compare them with children with normal hearing. METHOD: Twenty patients (age ranging from 3 months to 21 months ) with bilateral aural atresia were studied. The air and bone auditory thresholds were assessed by auditory brain stem response (ABR). The infant-todder meaning auditory integration scale (IT-MAIS) was used to evaluate the auditory development at three time levels: baseline, 3 months and 6 months. RESULT: The average unaided bone conduction hearing thresholds of patients is (17.5 ± 5.9)dB nHL,and the average air conduction hearing thresholds is (72.5 ± 9.3)dB nHL. The average VRA hearing thresholds of 5 patients is (30.5 ± 5.9) dB HL. The IT-MAIS total, detection and perception scores are improved specifically after wearing softband Ponto and approaching the normal level. CONCLUSION Softband Ponto is suitable for infants with bilateral atresia. Results from these auditory development testing are encouraging. Softband Ponto should be used as a bridge for surgical implantations when temporal bone is thick enough.
Audiometry ; Auditory Threshold ; Bone Conduction ; Child ; Congenital Abnormalities ; therapy ; Congenital Microtia ; therapy ; Ear ; abnormalities ; Evoked Potentials, Auditory, Brain Stem ; Hearing ; Hearing Aids ; Hearing Loss, Bilateral ; Hearing Loss, Conductive ; Hearing Tests ; Humans ; Infant

Objective To evaluate the therapeutic effectiveness and safety of endoscopic submucosal dissection (ESD) with improved snare for colorectal polyps and submucosal tumors.Methods The clinical data such as clinical pathological characteristics, en bloc resection rate, curative resection rate, complications and follow-up results of 20 patients with colorectal polyps or submucosal tumors, who were treated by ESD, were retrospectively analyzed.Results 20 patients (total 24 lesions) with colorectal polyps or submucosal tumors were performed ESD operation successfully, in which 16 cases (total 20 lesions) were treated by ESD with improved snare (the trial group), 4 cases were treated by ESD with HOOK knife (the control group).The surgical success rate was 100.0% (24/24), the en blot resection rate was 100.0% (24/24). The mean polyps diameter in the trial group was (2.4 ± 0.9) cm (1.2~4.0 cm), while that in the control group was (2.2 ± 0.6) cm (1.5~3.0 cm). The mean procedure time in the trial group was (83.3 ± 23.9) min (45.0~120.0 min), while the control group was (66.2 ± 15.4) min (45.0~80.0 min), compared with the control group, the trial group need more times to complete the operation. The postoperative pathology as follows: 15 cases were adenoma (including 3 cases of adenoma with partial gland high-grade intraepithelial neoplasia), 1 case was hyperplastic polyp, 1 case was high-grade intraepithelial neoplasia, 2 cases were neuroendocrine tumor (total 4 lesions) 1 case was stromal tumor. Except for 1 case of stromal tumor from the muscularis propria was taken full thickness resection, no patient appeared complications such as hemorrhage, perforation, infection. No patient need intraoperative and postoperative surgical treatment.Conclusion Improved snare can be used to endoscopic submucosal dissection for large colorectal polyps and submucosal tumors safely and effectively, expanded the use and indications of snare in endoscopic resection, but need more times to completed the operation.

Produced by bone cells and stored in the matrix.bone ceil growth factor can contribute to the regulation of bone growth.Gene regulation has its role in bone development.Many factors of this kind have been founded recently.They play their role during the bone formation and absorption processes in the way of autocrine and paracrine.The genes of core binding factor α_1(Cbfα_1)and estrogen receptor α(Erα)have been the recent years'hot factors that are related to the bone development,Gene polymorphism refers to variation on gene level which often occurs in the non-coding domain or the domain bearing no important regulatory function in gene order.This article reviewed the research status of the relation between Cbfα_1 and Erα gene polymorphism with bone development.