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1.
Journal of Clinical Hepatology ; (12): 2369-2375, 2021.
Article in Chinese | WPRIM | ID: wpr-904950

ABSTRACT

Objective To investigate the clinical features of liver injury induced by anti-tuberculosis drugs and related risk factors. Methods A total of 129 patients who were diagnosed with liver injury induced by anti-tuberculosis drugs in Shenzhen Third People's Hospital from January 2017 to December 2018 were enrolled and divided into abnormal liver function group with 51 patients (39.53%) and drug-induced liver injury (DILI) group with 78 patients (60.47%), and among these 129 patients, 13 (10.08%) had liver failure. A retrospective analysis was performed for their laboratory markers as well as treatment and prognosis data. The chi-square test was used for comparison of categorical data between two groups; the independent samples t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups. The multivariable logistic regression model was used to investigate the risk factors for DILI and liver failure. Results There were significant differences between the DILI group and the abnormal liver function group in chronic HBV co-infection ( χ 2 =5.616, P =0.018), asymptomatic liver injury ( χ 2 =9.451, P =0.002), liver failure ( χ 2 =9.453, P =0.002), need to adjust anti-tuberculosis regimen ( χ 2 =16.787, P 8 weeks (odds ratio [ OR ]=3.94, 95% confidence interval [ CI ]: 1.02-15.25, P =0.047) and asymptomatic liver injury ( OR =7.64, 95% CI : 1.63-35.86, P =0.010) were independent risk factors for DILI; chronic HBV co-infection ( OR =14.42, 95% CI : 2.66-78.09, P =0.002) and time to identification of liver injury > 8 weeks ( OR =11.97, 95% CI : 2.03-70.50, P =0.006) were independent risk factors for liver failure, while albumin ≥35 g/L ( OR =0.07, 95% CI : 0.01-0.51, P =0.010) was a protective factor. Conclusion Anti-tuberculosis drugs may induce severe liver injury, and HBV co-infection, asymptomatic liver injury, long time to identification of liver injury, and low albumin level may increase the risk of severe liver injury. Regular follow-up, liver function monitoring, appropriate nutritional support, and HBV screening are important for reducing the risk of liver injury during anti-tuberculosis therapy.

2.
Journal of Clinical Hepatology ; (12): 2369-2375, 2021.
Article in Chinese | WPRIM | ID: wpr-904900

ABSTRACT

Objective To investigate the clinical features of liver injury induced by anti-tuberculosis drugs and related risk factors. Methods A total of 129 patients who were diagnosed with liver injury induced by anti-tuberculosis drugs in Shenzhen Third People's Hospital from January 2017 to December 2018 were enrolled and divided into abnormal liver function group with 51 patients (39.53%) and drug-induced liver injury (DILI) group with 78 patients (60.47%), and among these 129 patients, 13 (10.08%) had liver failure. A retrospective analysis was performed for their laboratory markers as well as treatment and prognosis data. The chi-square test was used for comparison of categorical data between two groups; the independent samples t -test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups. The multivariable logistic regression model was used to investigate the risk factors for DILI and liver failure. Results There were significant differences between the DILI group and the abnormal liver function group in chronic HBV co-infection ( χ 2 =5.616, P =0.018), asymptomatic liver injury ( χ 2 =9.451, P =0.002), liver failure ( χ 2 =9.453, P =0.002), need to adjust anti-tuberculosis regimen ( χ 2 =16.787, P 8 weeks (odds ratio [ OR ]=3.94, 95% confidence interval [ CI ]: 1.02-15.25, P =0.047) and asymptomatic liver injury ( OR =7.64, 95% CI : 1.63-35.86, P =0.010) were independent risk factors for DILI; chronic HBV co-infection ( OR =14.42, 95% CI : 2.66-78.09, P =0.002) and time to identification of liver injury > 8 weeks ( OR =11.97, 95% CI : 2.03-70.50, P =0.006) were independent risk factors for liver failure, while albumin ≥35 g/L ( OR =0.07, 95% CI : 0.01-0.51, P =0.010) was a protective factor. Conclusion Anti-tuberculosis drugs may induce severe liver injury, and HBV co-infection, asymptomatic liver injury, long time to identification of liver injury, and low albumin level may increase the risk of severe liver injury. Regular follow-up, liver function monitoring, appropriate nutritional support, and HBV screening are important for reducing the risk of liver injury during anti-tuberculosis therapy.

3.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 662-669, 2019.
Article in Chinese | WPRIM | ID: wpr-797897

ABSTRACT

Objective@#Using propensity score matching method (PSM) to investigate the clinical effect of postoperative adjuvant radiotherapy and postoperative concurrent chemoradiotherapy for locally advanced hypopharyngeal squamous cell carcinoma.@*Methods@#From July 2007 to July 2018,174 postoperative patients with locally advanced hypopharyngeal squamous cell carcinoma were enrolled in pre-PSM cohort, including 168 males and 6 females, the median age was 60 years old (ranged from 37 to 79 years old).Loco-regional control (LRC),progression-free survival (PFS) and overall survival (OS) were compared and analyzed between the patients treated with postoperative adjuvant radiotherapy and postoperative concurrent chemoradiotherapy (cisplatin was given in a dose of 80 mg/m2 on days 1, 22, and 43). After the propensity score matching (PSM), 61 sub-pairs of 122 patients were generated in post-PSM cohort. Survival rate were assessed with Kaplan-Meier method and Log-rank test.@*Results@#After the propensity score matching(PSM), 61 sub-pairs of 122 patients were generated in post-PSM cohort.The patients were followed up for 3-135 months, the median follow-up was 42 months. No significant differences in 3-year and 5-year LRC, PFS, OS were observed between the two groups (P>0.05) . For postoperative patients who had high-risk factors (extracapsular extension of nodal disease, and/or vascular embolism, and/or lymph node metastasis≥2, and/or positive surgical margin, and/or perineural infiltration),there were significant differences between the two groups in 3-year PFS (60.99% vs 84.49%,P<0.05), 5-year PFS (35.47% vs 56.97%,P<0.05) and 5-year LRC (41.02% vs 68.50%, P<0.05), but no significant difference was found in OS between the two groups (P>0.05).@*Conclusion@#Postoperative concurrent chemoradiotherapy was more efficacious than postoperative radiotherapy alone in terms of loco-regional control and PFS for high-risk postoperative patients with locally advanced hypopharyngeal squamous cell carcinoma.

4.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 352-358, 2018.
Article in Chinese | WPRIM | ID: wpr-809963

ABSTRACT

Objective@#To compare the treatment outcomes for locally advanced hypopharyngeal carcinoma between surgery plus radio(chemo) therapy(SRT) and non-surgery chemoradiotherapy(CRT).@*Methods@#A total of 119 patients diagnosed with advanced hypopharyngeal carcinoma without distant metastases between 2010 and 2014 were identified in the Chinese People′s Liberation Army General Hospital, and they were divided into 2 groups: 42 cases in SRT group and 77 cases in CRT group. Patients′ clinical information was collected. Survival rates and prognostic factors were analyzed by the Kaplan-Meier method with SPSS 23.0 software. The survival rates, laryngeal preservation rates and complication rates were compared between the two groups using the chi-square test.Among the 119 patients, 112 were males and 7 were females. Age ranged from 27 to 78 years, with an average age of 57 years.@*Results@#There were no significant difference between the SRT and CRT group for five-year disease-free survival (DFS, 53.9% vs. 45.1%, χ2=1.251, P=0.263) and overall survival (OS, 54.9% vs. 45.6%, χ2=1.749, P=0.186). Compared to SRT group, CRT group did not showed the significant increase of treatment complications (χ2=0.858, P=0.354), with a higher laryngeal preservation rate (50.0% vs. 71.4%, χ2=6.493, P=0.011).@*Conclusions@#Advanced hypopharyngeal carcinoma is of high malignancy and poor prognosis. Combined modality treatment is a main approach for advanced hypopharyngeal cancer. SRT offers disease-free survival and overall survival rates equivalent to CRT, but with a higher laryngeal preservation rate.

5.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 103-105, 2017.
Article in Chinese | WPRIM | ID: wpr-808202

ABSTRACT

Objective@#To explore the clinical characteristics of case of thyroid adenoma in the piriform fossa, and review the literatures of the congentital thyroid gland abnormality.@*Methods@#A 44-year-old male had foreign body feeling in his pharynx for 3 years. A mass in his left piriform fossa was detected by the clinical and imaging examination. Biopsy report that the mass was thyroid papillary carcinoma. The resection of tumor with partial back thyroid cartilage through lateral neck and pharyngeal approach was performed.@*Results@#The surgical wound healed in first-stage and no any surgical complication occurred. With postoperative pathological and immunohistochemical examination, the mass was finally diagnosed as thyroid gland adenoma. Staining for cytokerantin19 was negative.@*Conclusion@#The symptomatic and neoplastic abnormal thyroid gland should be excised, but asymptomtic, non-neoplastic and functional abnormal thyroid gland should be retained with regular follow up.

6.
Journal of International Oncology ; (12): 169-172, 2017.
Article in Chinese | WPRIM | ID: wpr-505918

ABSTRACT

Objective To observe the changes of T lymphocyte subsets and natural killer (NK) cells in patients with late stage non-small cell lung cancer (NSCLC) before and after treatment with PD-1 inhibitor and its clinical effect.Methods Totally 23 patients with NSCLC in Guangzhou Modern Hospital from January 2015 to January 2016 were collected.All patients were given 6 cycles of PD-1 inhibitor treatment after chemotherapy or targeted drug treatment failure.Peripheral venous blood was collected before and after treatment to detect the percentage of CD3 +,CD4 +,CD8 + and NK cells in peripheral blood lymphocytes.The curative effects were evaluated by chest CT after treatment of 2,4,6 cycles.Results Compared with before treatment,the proportions of CD3+ (69.56% ±7.81% vs.63.91% ±6.43%,t =2.679,P =0.005),CD4+ (39.01% ±4.98% vs.36.09% ±4.77%,t =2.031,P =0.024) and CD4+/CD8+ (1.82 ±0.48 vs.1.49 ± 0.32,t =2.743,P =0.004) were increased after treatment,with significant differences.While compared with before treatment,the proportions of CD8 + (24.08% ± 5.13% vs.26.04% ± 6.44%,t =1.142,P =0.130) and NK cells (22.68 % ± 9.56% vs.21.45 % ± 10.01%,t =0.426,P =0.337) had little changes,with no significant differences.There were 3 patients with complete remission,10 patients with partial remission,8 patients with stable disease and 2 patients with progressive disease when completing 6 cycles of PD-1 inhibitor treatment.Ten patients showed untoward effects such as mild sleepiness,thirst,tussis,pruritus and rash,and they were well tolerable.Conclusion PD-1 inhibitor can improve the patient's cellular immune function,and can achieve a more satisfactory short-term efficacy and acceptable adverse reactions,which maybe bring new hopes for patients with NSCLC.

7.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 372-377, 2016.
Article in Chinese | WPRIM | ID: wpr-265515

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the therapeutic effects, larynx preservation and adverse events of non-surgical combined treatments for laryngeal organ preservation in locally advanced laryngeal squamous cell carcinomas(SCCs).</p><p><b>METHODS</b>Forty-six patients with locally advanced laryngeal carcinoma (T2-4, N0-N3) were treated individually with non-surgical combined treatments for larynx preservation (LP). These treatments included concurrent chemoradiotherapy (CCRT)(±epidermal growth factor receptor (EGFR) inhibitor), induction chemotherapy (ICT) followed by CCRT(± EGFR inhibitor), or concurrent radiotherapy and EGFR inhibitor. Radiation therapy was given to a total dose of 60-70 Gy. The Kaplan-Meier method was used to determine the overall survival. Side-effects were evaluated with the established Common Terminology Criteria for Adverse Events (CTCAE) version 3.0 criteria.</p><p><b>RESULTS</b>The average follow-up time was 31.8 months (range 6-95 months). All patients completed the planned radiotherapy without treatment breaks, and 45(97.8%) of 46 patients completed the planned chemotherapy.The 3-year and 5-year overall survival rates were 87.3%and 67.2%, respectively.The 5-year larynx preservation rate was 100.0%. The 3-year and 5-year progression free survival rates were 95.1% and 87.7%, respectively. The most common acute side effect in grade 3 was oropharyngeal mucositis. After treatment, tracheotomy was still required in 2 patients with glottis cancer for laryngeal edema or stenosis. No patient depended on a percutaneous gastrostomy and experienced speech impairment.</p><p><b>CONCLUSION</b>Patients with locally advanced laryngeal cancer can be offered non-surgical combined treatments for laryngeal preservation and the high quality of life, showing a higher laryngeal preservation survival rate with minimal toxicities.</p>


Subject(s)
Humans , Antineoplastic Agents , Therapeutic Uses , Carcinoma, Squamous Cell , Drug Therapy , Radiotherapy , Chemoradiotherapy , Combined Modality Therapy , Disease-Free Survival , Head and Neck Neoplasms , Drug Therapy , Radiotherapy , Laryngeal Neoplasms , Drug Therapy , Radiotherapy , Larynx , Organ Sparing Treatments , Quality of Life , Survival Rate
8.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 558-563, 2014.
Article in Chinese | WPRIM | ID: wpr-233849

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the treatment outcome, laryngeal preservation and side-effect in locally advanced hypopharyngeal carcinoma treated with combined Hilical tomotherapy (HT) or intensity-modulated radiotherapy (IMRT) and chemotherapy and/or EGFR inhibitor (Cetuximab or Nimotuzumab).</p><p><b>METHODS</b>A total of 68 patients (20 cases with T1-2N1-3M0 and 48 cases with T3-4N1-3M0) with locally advanced hypopharyngeal cancer were treated individualy with non-surgical combined modality treatments including induction chemotherapy followed by concurrent chemoradiotherapy, induction chemotherapy followed by concurrent radiotherapy and EGFR inhibitor, concurrent chemoradiotherapy and EGFR inhibitor, and concurrent radiotherapy and EGFR inhibitor. HT was used in 40 patients and IMRT in 28 patients. Side-effects were evaluated with the established Common Terminology Criteria for Adverse Events (CTCAE) version 3.0 criteria.</p><p><b>RESULTS</b>The average follow-up time was 25.7 months (range 3-69 months). All patients completed the planned radiotherapy without treatment breaks, and 66 (97.0%) of 68 patients completed the planned chemotherapy. The 2-year and 3-year overall survival rates were 78.8% and 64.7% respectively, with an organ preservation rate of 84.2%. The most common side-effect greater than or equal to grade 3 was oropharyngeal mucositis. No patient dependent on a percutaneous gastrostomy and tracheostomy tube.</p><p><b>CONCLUSION</b>Hypopharyngeal carcinoma can be treated with non-surgical combined modality treatment including HT or IMRT, with a high laryngeal organ preservation rate and minimal toxicities.</p>


Subject(s)
Humans , Antibodies, Monoclonal, Humanized , Antineoplastic Agents , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Carcinoma, Squamous Cell , Therapeutics , Cetuximab , Chemoradiotherapy , Cisplatin , Combined Modality Therapy , Methods , Fluorouracil , Head and Neck Neoplasms , Therapeutics , Hypopharyngeal Neoplasms , Therapeutics , Larynx , Larynx, Artificial , Organ Preservation , Radiotherapy, Intensity-Modulated , Survival Rate , Treatment Outcome
9.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 35-38, 2014.
Article in Chinese | WPRIM | ID: wpr-271604

ABSTRACT

<p><b>OBJECTIVE</b>To summarize the clinical characteristics of inflammatory myofibroblastic tumor (IMT) in head and neck and to discuss its treatment.</p><p><b>METHODS</b>Twenty-seven cases of IMT in head and neck diagnosed at the Chinese PLA General Hospital from 2004 to 2012 were analyzed retrospectively. Among the 27 patients, 12 males and 15 females, age ranged from 8 to 77 years, with a median 43 years old. Treatment included: 1 with radiotherapy, 22 with surgery, 3 with surgery and postoperative radiotherapy, one with concurrent chemoradiotherapy followed by surgery. Of the 27 cases, 5 located in the neck, 6 in the nasal and paranasal sinus, 4 in the temporal bone, 3 in the throat, 2 in the parotid gland, 2 in the lower pharynx, 1 in the mandible, 1 in the maxilla, 1 in the masseter muscle, 1 in the amygdala and 1 in the pharynx nasalis.</p><p><b>RESULTS</b>Following-up time was 4-85 months, with a median of 26 months. Six cases lost follow-up, 1 case with malignant transformation and died, 16 cases survived with no recurrence, 4 cases relapsed, of whom 2 were alive with tumors and 2 died.</p><p><b>CONCLUSIONS</b>IMT in the head and neck has a tendency to be malignancy, with certain recurrence rate and mortality. Radical excision is still the first choice of treatment for IMT in head and neck.</p>


Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Granuloma, Plasma Cell , Pathology , Therapeutics , Head and Neck Neoplasms , Pathology , Therapeutics , Retrospective Studies
10.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 169-174, 2013.
Article in Chinese | WPRIM | ID: wpr-746947

ABSTRACT

OBJECTIVE@#To explore and compare the effect of clinical characters on quality of life (QOL) of laryngeal carcinoma postoperative patients.@*METHOD@#We performed a retrospective cohort follow up study of 303 patients who underwent operation for laryngeal carcinoma. The Chinese version of the general and the head and neck specific quality of life questionnaires of the European Organization for the Research and Treatment of Cancer (EORTC QLQ-C30 and EORTC QLQ-H&H35) were used to measure the quality of life of those patients in the cohort, to study the relationship between QOL and clinical factors.@*RESULT@#In the 303 cases, there were 78 cases retaining the permanent tracheostomies (59 total laryngectomy and 19 partial laryngectomy); 4 patient retain the nasal feed pipe. Female patients were worse than male patients in the domain of physical function and global QOL (P<0.05). Older patients were worse than younger patients in the domain of physical function and speech (P<0.05). Patients with glottic tumors experience better global QOL than their peers with under glottic or supraglottic tumors. The patients with supraglottic tumor have more problem with swallowings (P<0.05). Earlier stage patients have better suitation in many domains than later stage patients, but III stage have more difficulty with swallowing than IV stage. Patients who accepted minimally invasive operation and laryngofissure have better QOL than those accepted partial laryngectomy or total laryngectomy; total laryngectomee have more problems with physical, emotion function, global QOL, sense, speech, cough and morbid feeling than patients with partial laryngectomy, but less problem with fatigue, pain, dyspnea, swollowing and dry mouth; Patients with partial horizontal laryngectomy have more difficulty with swallowing. In the multivariable analysis, the operation mode was an independent factor to speech problem. Patients who accepted neck dissction have more negative outcomes than patients without neck dissection. In the univariable analysis, the permanent tracheostomy was a notable factor which affected many domains in the quality of life; multivariable analysis showed that permanent tracheostomy was an important factor which worked on global quality of life.@*CONCLUSION@#The quality of life was affected by many clinical factors. The operation mode was an independent factor which affect speech problem. Decannulation after partial laryngectomy was very important to keep the quality of life.


Subject(s)
Female , Humans , Male , Laryngeal Neoplasms , Psychology , General Surgery , Laryngectomy , Psychology , Postoperative Period , Quality of Life , Retrospective Studies , Surveys and Questionnaires
11.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 844-846, 2013.
Article in Chinese | WPRIM | ID: wpr-749233

ABSTRACT

OBJECTIVE@#To compare the postoperative survival rate of laryngeal carcinoma patient at stage III or IV whom accepted partial laryngectomy and total laryngectomy.@*METHOD@#We performed a retrospective cohort follow-up study of 126 patients of stage III or IV who underwent operation for laryngeal carcinoma in Chinese PLA General Hospital between January, 2005 and December, 2009. Survival rates were calculated by product-limit method.@*RESULT@#There were 80 patients at stage III and 46 patient at stage IV. Sixty five patients underwent partial laryngectomy and 61 patients underwent total laryngectomy. There were 24 patients in whole group died in the 5 years, 15 of them underwent partial and 9 accepted total laryngectomy. The 5-years survival rate of partial and total group were 62.58% and 68.74% respectively. The survival curve of both groups had no significant difference (P < 0.05).@*CONCLUSION@#For laryngeal carcinoma patients at later stage, with suitable operative indication, the partial laryngectomy could achieve an acceptable effect as well as total laryngectomy.


Subject(s)
Humans , Carcinoma, Squamous Cell , Mortality , Laryngeal Neoplasms , Mortality , Laryngectomy , Methods , Mortality , Neoplasm Staging , Postoperative Period , Retrospective Studies , Survival Rate , Treatment Outcome
12.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 1108-1114, 2011.
Article in Chinese | WPRIM | ID: wpr-749500

ABSTRACT

OBJECTIVE@#To analysis the therapeutic procedure on the recurrent congenital fistula or cyst in lateral cervical part.@*METHOD@#Thirty-nine cases with recurrent congenital fistula or cyst in lateral cervical part were enrolled in this study including 12 cases from the first branchial cleft, 6 from the second branchial cleft and 21 from the third branchial cleft.@*RESULT@#All the cases underwent fistula or cyst excision for 2 to 5 times in their whole therapeutic process, not counting the incision and drainage. During 9 months to 17 years follow-up, fistula or cyst in 6 cases relapsed,including 1 fistula from the first branchial cleft,3 fistulae from the second branchial cleft, 1 fistula and 1 cyst from the third branchial cleft, respectively. One case with recurrent fistula from the first branchial cleft was diagnosed temporal verrucous carcinoma six months after the third fistula excision operation and died one year after the forth operation probably due to the intracranial metastasis of temporal bone verrucous carcinoma. In two cases, the fistulae went through the thyroid gland to the piriform fossa and both the fistulae and part of the thyroid glands were resected. In the patients whose inner orificium fistulae were found and ligated effectively,no recurrence occurred during the followed-up period.@*CONCLUSION@#The key point to cure the recurrent congenital fistula or cyst in lateral cervical part lies in proper occasion of operation, stain tracing in operation and reasonable program of operation.


Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Branchioma , General Surgery , Fistula , General Surgery , Recurrence , Retrospective Studies
13.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 11-15, 2010.
Article in Chinese | WPRIM | ID: wpr-746709

ABSTRACT

OBJECTIVE@#To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations.@*METHOD@#DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang. Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis.@*RESULT@#Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4% and 10.1%, respectively, whereas not found in Uigur deaf groups. The difference was statistically significant. We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students.@*CONCLUSION@#Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.


Subject(s)
Adolescent , Child , Female , Humans , Male , Young Adult , Asian People , Genetics , China , Ethnology , Connexin 26 , Connexins , Genetics , DNA, Mitochondrial , Genetics , Deafness , Ethnology , Genetics , Ethnicity , Gene Frequency , Genotype , Membrane Transport Proteins , Genetics , Mutation , Persons With Hearing Impairments , Polymorphism, Genetic , Sulfate Transporters
14.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 11-15, 2010.
Article in Chinese | WPRIM | ID: wpr-433095

ABSTRACT

Objective:To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations.Method:DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang.Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR).Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis.Result:Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4%and 10.1%,respectively, whereas not found in Uigur deaf groups.The difference was statistically significant. We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students.Conclusion:Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.

15.
Journal of Audiology and Speech Pathology ; (6): 35-39, 2010.
Article in Chinese | WPRIM | ID: wpr-403767

ABSTRACT

Objective To evaluate the safety of Ad-Mathl administration to inner ear and provide the base data for vestibular dysfunction gene therapy.Methods Ten mature Wistar rats were divided into normal control group(srats) and adenovirus(E1,E3-Deleted and carried mathl and enhanced green fluorescent protein report gene,Ad-Mathl-EGFP)scala vestibuli transfer group(5 rats).Right ears of the Ad-Mathl-EGFP transfering group rats were deliveried 5ul Ad-Mathl-EGFP(physieal tite 2.1 10~(11)v.P./ml)into cochleas through the way of drilling scala vestibuli of cochlear basal turn.As a control,the normal group received nothing to inner ear.In order to estimate functional condition of vestibule and cochlea,the click-evoked potentials on the surface of the cervical dura mater(CDM-CEP),auditory brain stem response(ABR)and swimming time were recorded in all rats at 7 days after treatment,and then histologic and morphologic observation were carried out after animals were sacrificed.Results All animals' morphologic observation showed that inner ear hair cells were normal after transfer.Seven days after transfer,the swimming time was 4.0±0.71 s in normal control group and 5.0±0.71 s in scala vestibuli delivery group.The threshold of CDM-CEP and ABR were 85±3.54 dB SPL and 37±4.47 dB SPL in normal control group,and 89±6.52 dB SPL and 40±3.54 dB SPL in Ad-Mathl-EGFP scala vestibuli delivery group,respectively.There was no significant difference existed between control group and Ad-Mathl-EGFP scala vestibuli delivery group.Conclusion The Ad(E1,E3-Deleted)is safe for vestibular and cochlea hair cells and can be used as an ideal vector of gene transfer.

16.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 14-21, 2008.
Article in Chinese | WPRIM | ID: wpr-747554

ABSTRACT

OBJECTIVE@#To investigate the genetic causes of nonsyndromic deaf patients in special educational school of Chifeng city. Inner Mongolia by genetic screening testing method. This study focused on analyzing mutations of coding sequence of GJB2, GJB3 and GJB6 gene.@*METHOD@#DNA were extracted out from peripheral blood of 134 nonsyndromic deaf probands of Chifeng special educational school and 100 normal hearing controls in northern China. First, GJB2 gene mutation was analyzed by direct sequencing for its only exon in the open reading frame. Individuals found with heterozygous GJB2 mutation were given further testing for GJB6 del(GJB6-D13S1830) and direct sequencing for its exon. In 91 probands with unknown genetic cause (excluding probands who carried mtDNA A1555G mutation and GJB2 gene bi allele mutation and probands who were diagnosed as enlarged vestibular aqueduct by temporal CT), GJB3 gene mutation was analyzed by direct sequencing for its exon.@*RESULT@#The sequencing results revealed that forty-one cases carried GJB2 mutation. of which twenty-two were homozygous or compound heterozygous and nineteen were heterozygous. Further testing for GJB6 del(GJB6-D13S1830) and analysis of its coding sequence in GJB2 heterozygous cases showed no positive result. Four subjects in control group carried pathogenetic mutation of GJB2 gene. Six types of novel variants of GJB2 gene were detected. Of the 91 deaf probands with unknown etiology. two probands were found carrying heterozygous pathogenetic mutation of GJB3 gene. one of whom also carried GJB2 235delC heterozygous mutation. One subjects in the control group carried pathogenetic mutation of GJB3 gene. Three types of novel variants of GJB3 gene were found.@*CONCLUSION@#By screening GJB2.GJB3 and GJB6 gene, we found 32.1% probands carrying GJB2, GJB3, and GJB6 mutations and we are able to determine genetic cause related to these three genes from one family for 16.42 percent of nonsyndromic deaf probands in special educational school of Chifeng city. The discovery of novel variants of GJB2 and GJB3 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Young Adult , Asian People , Genetics , Case-Control Studies , China , Connexin 26 , Connexin 30 , Connexins , Genetics , DNA Mutational Analysis , Education, Special , Genetic Testing , Genotype , Hearing Loss , Genetics , Heterozygote , Mutation , Polymorphism, Genetic , Students
17.
Chinese Journal of Microsurgery ; (6): 122-124,illust 7, 2008.
Article in Chinese | WPRIM | ID: wpr-597152

ABSTRACT

@#Objective To study the surgical approach of the jugular foramen and the clinical anatomy of the transmastoid endoscoPy-assisted jugular foramen surgery.Method The transmastoid endoscopy-assisted jugular foramen surgery was simulated in 15 adult cadaveric specimens(3O side). The main anatomic mark in the surgical approach was studied,and the distance between the important stmcture to the glomus jugular has been measured. Results The distance between the glomus jugular and the Vertlcal segmental of the facial nerve,the anterior wall of the glomus jugular to the facial nerve,the glomus jugular to the posterior semicircular canal and tympanic cavity were(3.58±1.32)mm,(5.07±2.93)mm,(4.68±3.47)mm and(0.14±4.32)mm.In 30 cases,the top of the glomus jugular inferior the tympanic cavty in 5cases, 7 cases behind the facial nerve and the tympanic, 16 cases the facial Berve is m the middle of the glomus iugular. 2 cases is near the inferior wall of internal auditory meatus.the cranial nerve and blood vessel in the jugular foramen is clearly to be show. Conclusion It is a samPle and little damaged way to use the transmastoid endoscopy-assisted jugular foramen surgery and it is hopeful to Protect function of the facial Berve,acoustic nerve and the post-cranial nerve.

18.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 3-6, 2007.
Article in Chinese | WPRIM | ID: wpr-748890

ABSTRACT

OBJECTIVE@#To investigate the contribution of GJB6 gene (encoding connexin 30) mutation in Chinese population with sporadic non-syndromic hearing impairment.@*METHOD@#Three hundred and seventy-two nonsyndromic hearing impairment patients and 182 normal controls were first tested for GJB6 del(GJB6 > D13S1830) using specific PCR primers. Then PCR was performed with a pair of primer flanking the whole coding sequence of GJB6 gene. Sequencing of GJB6 whole coding sequence PCR products was subsequently applied in all subjects with hearing loss and normal controls.@*RESULT@#None of the patients and normal controls carried GJB6 del (GJB6 > D13S1830). Two single base pair changes were detected , one in the patient group and the other in the control group. The mutation found in the patient group was not detected in the control subjects.@*CONCLUSION@#Mutation of GJB6 gene is not frequent in Chinese non-syndromic hearing-loss population. Screening for GJB6 gene can be ranked as unconventional deaf gene test in China temporarily.


Subject(s)
Adolescent , Child , Female , Humans , Male , Alleles , Asian People , Genetics , Case-Control Studies , Connexin 30 , Connexins , Genetics , DNA Mutational Analysis , Deafness , Genetics , Mutation
19.
Chinese Archives of Otolaryngology-Head and Neck Surgery ; (12)2006.
Article in Chinese | WPRIM | ID: wpr-529949

ABSTRACT

OBJECTIVE To study the anatomical dimension of the path to the petrous apex via the infralabyrinthine approach. METHODS Thirty dry temporal bones were dissected along the internal carotid canal. The distances from the vertical portion of the facial nerve to the genu of the internal carotid canal,the vertical portion of the facial nerve to the petrous apex,the genu of the internal carotid canal to the posterior surface of the petrous bone were measured. Ten heads of adult cadaver were dissected to gain access to the petrous apex via the infralabyrinthine approach. The horizontal and vertical dimensions of the approach window created were measured. RESULTS The vertical portion of the facial nerve to the lap of the internal carotid canal was (13.26?1.66)mm,portion of the facial nerve to the petrous apex was (34.48?1.07)mm,the lap of the internal carotid canal to the posterior surface of the petrous bone was (9.68?1.53)mm. The mean dimensions of the window in dissected bones were(5.76?3.38)mm vertically and (6.42?2.65)mm horizontally. Thirteen sides had been doing well with the infralabyrinthine approach. CONCLUSION The possibility of those anatomical variations should be considered when the infralabyrinthine approach is being planned to manage the petrous apex lesion. The infralabyrinthine approach is useful to the patients with good hearing.

20.
Chinese Archives of Otolaryngology-Head and Neck Surgery ; (12)2006.
Article in Chinese | WPRIM | ID: wpr-529542

ABSTRACT

OBJECTIVE To investigate the genetic abnormalities of FHIT gene in nasal and paranasal sinus carcinoma, and to explore its relationship between genetic abnormalities of FHIT gene and etiology of nasal and paranasal sinus carcinoma(NPSC). METHODS The clinical data of 48 patients with NPSC treated with radical operations from 1991 to 2000 were studied retrospectively. Patients included 23 female and 25 male ranging in age from 20 to 71 years. Immunohistochemistry with SP method was used to assess the expression of FHIT in the carcinoma specimens of the patients. Microdissection and denaturating high-performance liquid chromatography (DHPLC) were used to analyze the loss of hereteozygosity (LOH) of DS1234 in exon 8 of FHIT gene. RESULTS The loss of expression of FHIT was found in 5 patients(10.4 %, 5/48). Comparing with adjacent non-neoplastic tissue, reduced expression of HFIT was found in 16 (55.17 %, 16/29) patients. The adenoid cystic carcinoma showed stronger expression of FHIT than squamous cell carcinoma(P

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