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

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 establish an immunoassay based on microfluidic chip for detection of TSH and total T4.Methods The direct-write laser micromachining technology was used to fabricate microfluidic chip,luminol-H2O2 as luminator.This method and Roche E2010 electrochemiluminescence immunoassay were used to examine TSH by double-antibody sandwich method and total T4 by competitive principle in 50 serum samples collected at our outpatient clinic.Results The detection was completed within 25 min.Ten microliter sample and reagent was required.The detection range of TSH was 0-50 ?IU/ml and its average intraassay and interassay precision was 4.7% and 4.6% respectively and its average recovery rate was 95.3%.The detection range of T4 was 9.375-300 ng/ml,and its average intraassay and interassay precision was 4.9% and 4.7% respectively and its average recovery rate was 91.27%.Conclusion Rapid detection of TSH and T4 by microfluidic chip-based immunoassays is convenient,stable and accurate and of less reagent and time consuming.

ObjectiveTo compare the neuromuscular blockade induced by different target effect-site concentrations (Ces) of rocuronium in female patients.MethodsOne hundred and twenty ASA Ⅰ or Ⅱ female patients,aged 40-55 yr,with body mass index 18-22 kg/m2,scheduled for elective thyroid or breast surgery under general anesthesia,were included in the study.Anesthesia was induced with midazolam 0.1 mg/kg and fentanyl 5 μg/kg.Target-controlled infusion of rocuronium was started to facilitate tracheal intubation as soon as the patients lost consciousness.The patients were randomly divided into 4 groups ( n =30 each):A,B,C and D groups.In groups A,B,and C,the target Ce of rocuronium was set at 3.5 μg/ml during induction of anesthesia and at 1.0,1.2 and 1.4 μg/ml respectively during maintenance of anesthesia.In group D,the target Ce of rocuronium was set at 3.8 μg/ml during induction of anesthesia and at 1.2 μg/ml during maintenance of anesthesia.The onset time (time from the beginning of target-controlled infusion of rocuronium to T1 =5％ of the control twitch),recovery time (when T1 retumed to 25 ％ of the control twitch),recovery index (the time for Tt to return from 25 ％ to 75 ％of the control twitch),and the total amount of rocuronium consumed during operation were recorded.The intubation conditions and degree of muscle relaxation during operation were assessed.ResultsNeuromuscular block during operation was significantly better and the rate of satisfactory neuromuscular block was significantly higher in groups B,C and D than in group A ( P ＜ 0.05).Onset time was significantly shorter in group D than in groups A,B and C ( P ＜ 0.05).Compared with group C,the total amount of rocuronium consumed during operation,recovery time and recovery index were significantly decreased in groups A,B and D ( P ＜ 0.05).There was no significant difference in the total amount of rocuronium consumed during operation,recovery time and recovery index between groups B and D (P ＞0.05).ConclusionRocuronium with the target Ce set at 3.8 and 1.2 μg/ml during induction of anesthesia and mainterance of anesthesia respectively can provide satisfactory neuromuscular block,is helpful to the recovery of neuromuscular block and is more suitable for female patients.

Objective To explore the effects of comprehensive rehabilitation on nutriture and medical costs in the treatment of patients with dysphagia following stroke. Methods Eighty-seven patients with dysphagia were divided into an intervention group (IG) and a control group (CG). Comprehensive rehabilitation therapy including deglutition training, electric neuromuscular stimulation and acupuncture were used with the IG patients, but not with those in the CG. Nutriture parameters included a biochemistry index and a body measurement index. Medical costs were observed before and after one month of treatment for both groups. Results After one month of treatment, average deglutition scores and nutriture indices were significantly higher in the IG than in the CG. Medical costs for the IG had decreased significantly compared with the CG. Conclusions Comprehensive rehabilitation therapy improved deglutition function and slowed nutriture deterioration, while decreasing medical costs in the treatment of patients with dysphagia following stroke.

Objective To establish the reference intervals of 20 dry biochemical items in different age periods among healthy population in Chengdu to providing better support and service for clinical diagnosis and treatment .Methods The stratified random‐ized cluster method was used to collect healthy children and adults in 4 age periods(1 month-3 years old ,>3-7 years old ,>7-18 years old and >18 years old) .Totally 1 495 healthy people (740 males and 755 female) were screened out as the research sub‐jects by the questionnaire ,physical examination and laboratory screening .Fasting venous blood samples were collected from these cases ,then the VITROS 5600 dry biochemistry analyzer was used to detect 20 biochemical items .The obtained results were statisti‐cally analyzed .Results In different groups according to sex and age ,except the conjugated bilirubin (BC) was constant 0 μmol/L , the other items had statistical differences (P<0 .05) .After merging the different groups without statistically significant difference , the obtained reference intervals had significant differences compared with the reference intervals provided by the manufacturer .Con‐clusion Laboratory should establish the different reference intervals aiming at different age and gender populations according to the special character of hospital visiting populations in order to meet the clinical requirements .

OBJECTIVE:To establish the quality standards for Shenshuaikang granule. METHODS:TLC was used for the quali-tative identification of Astragali Radix and Rhei Radix et Rhizoma in the preparation. HPLC was used for the contents determina-tion of emodin and chrysophanol ,the column was Agilent HC-C18 with mobile phase of methanol-0.1% phosphoric acid (85:15 , V/V)at a flow rate of 1.0 ml/min,the detection wavelength was 254 nm,the column temperature was 30 ℃ and the injection vol-ume was 10 μl. RESULTS:TLC showed clear spots and good separation. The linear range was 1.9-60.8 μg/ml for emodin(r=0.999 9, n=6) and 1.6-51.2 μg/ml for chrysophanol (r=0.999 9),RSDs of precision,stability and reproducibility tests were lower than 3%,recoveries were 95.76%-103.66%(RSD=2.83%,n=9)and 97.24%-104.34%(RSD=2.65%,n=9),respectively. CONCLU-SIONS:The standard can be used for the quality control of Shenshuaikang granule.

Objective To study and observe the change of nerve function and erythrocyte immune indexes of patients with severe craniocerebral injury during the perioperative period.Methods Forty patients with severe craniocerebral injury treated with surgery in our hospital from July 2013 to August 2015 were selected as the observation group and 40 healthy persons with the same ages in the same period were selected as the control group.The nerve function related indexes and erythrocyte immune indexes of observation group before and at first,third,fifth,seventh,tenth and fourteenth day after the surgery and those of control group were compared.Results The serum nerve function related indexes of observation group before and at first,third,fifth,seventh,tenth and fourteenth day after the surgery were higher than those of control group.The erythrocyte immune indexes of observation group before and at first,third,fifth,seventh and tenth day after the surgery were worse than those of control group.The erythrocyte immune indexes at fifth and seventh day after the surgery were worse than those before and at first,third,third,tenth and fourteenth day after the surgery.The differences of comparison indexes were all significant (P＜0.05).Conclusion The change of nerve function and erythrocyte immune indexes of patients with severe craniocerebral injury during the perioperative period are obvious.Those indexes should be paid with enough monitoring and intervention.

Objective To investigate effect of mild hypothermia on changes of somatosensory evoked potential (SEP) and synaptophysin mRNA level after traumatic brain injury (TBI) and determine hypothermia-induced neuroprotection.Methods Forty-five SD rats were allocated into mild hypothermia group,TBI group and sham operation group with 15 rats per group according to the random number table.Left-side fluid percussion impact was performed to induce models of TBI.Rats were exposed to hypothermia environment (32-35℃) for 6 hours in mild hypothermia group after TBI.Rats in sham operation group were treated by only drilling on left side of the head,rather than hitting.To evaluate function outcome,modified neurological severity score (mNSS),SEP and synaptophysin mRNA level were measured at 6 hours,24 hours and 7 days postinjury.Results The mNSS in mild hypothermia group lowered compared with TBI group,especially at 24 hours and 7 days (P ＜ 0.05).SEP in mild hypothermia group was significantly shortened at 6 and 24 hours compared with TBI group (P ＜ 0.05),but SEP revealed no significant difference among the 3 groups at 7 days (P ＞ 0.05).Level of synaptophysin mRNA in mild hypothermia group increased at 6 hours postinjury compared with TBI group [(0.08 ± 0.02) vs (0.12 ±0.04)],with further increase at 7 days postinjury[(0.06 ± 0.01) vs (0.33 ± 0.10)] (P ＜0.05).Conclusion The shortage of nerve conduction time of the injured side and promotion of nerve regeneration suggest the neuroprotective role of mild hypothermia following TBI.

Bacterial N-Acyl-L-homoserine lactones (AHLs)-mediated quorum sensing is involved in the regulation of diverse biological functions. As the bacterial pathogen population density increases, AHLs concentration secreted by pathogen reaches a threshold and then interacts with their intercellular receptor and triggers expression of virulence genes. It is a promising approach to biologically control bacterial disease in plants and animals by manipulating bacterial AHL-quorum sensing with AHLs-degrading enzyme and AHL analogue.