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

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

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 investigate the influencing factors and improve potency methods of chymosin, to verify the stability and applicability of the national standard of chymosin.Methods The effects of different formula milk powder substrate and enzyme concentration on the determination of the activity of chymosin were studied.3 ×3 dose-response parallel line method was established.The results were compared with the different methods of absolute and relative methods.Results The different formula milk powder had a significant effect on the determination of the absolute potency of the activity of chymosin.The concentration of the enzyme was a power function relationship with the milk clotting time.Compared with the absolute potency, reproducibility of the relative potency of the results was better in different laboratories.The suitable doses in 3 ×3 dose-response parallel line method were 0.35,0.44,0.55U/mL.The confidence limit rate was less than 5%.The potency of the national standard of chymosin (140712-201302) was not significantly different between 2013 and 2015.In a certain dose range, the dose-response of the national standard of chimosin and gastropylor complex or lamb'tripe extract was linear, and the two lines were parallel.Conclusion A lot of factors can affect on the potency of chymosin.Relative potency is determinate by reference standard which can eliminate the influence of different substrates, different operators and endpoint judgment on the determination in order to make results have comparability between laboratories.The test design of 3 ×3 dose-response parallel line can control the test deviation better than the single point determination.The stability of the national standard of chymosin(140712-201302) is good, and is suitable for the potency of chymosin of the products of gastropylor complex and the extract of the lamb.

Objective To establish the chromogenic substrate method to determine the activity of cytochrome C.Methods Used TMB as the chromogenic substrate, reacted at 37 ℃ for 15 min, generated the yellow products, and detected the absorbance at 450 nm.The experimental design method is the 4 ×4 parallel line quantitative analysis.ResuIts The activities of cytochrome C injection samples have been determined.The linear regression equation was Y=0.9875 X -1.0221,R2 =0.9996.The accuracy and repeatability were 1.1 % and 3.6 %.ConcIusion The chromogenic substrate method was simple operation, sensitive and can be used to determine the activity of cytochrome C.

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.