Differential diagnosis and surgical management in chondrosarcoma of the jugular foramen / 中华耳鼻咽喉头颈外科杂志

Objective: To explore the diagnosis, surgical management and outcome of jugular foramen chondrosarcoma (CSA). Methods: Fifteen patients with jugular foramen CSA hospitalized in the Department of Otorhinolaryngology Head and Neck Surgery of Chinese PLA General Hospital from December 2002 to February 2020 were retrospectively collected,of whom 2 were male and 13 were female, aging from 22 to 61 years old. The clinical symptoms and signs, imaging features, differential diagnosis, surgical approaches, function of facial nerve and cranial nerves IX to XII, and surgical outcomes were analyzed. Results: Patients with jugular foramen CSA mainly presented with facial paralysis, hearing loss, hoarseness, cough, tinnitus and local mass. Computed tomography (CT) and magnetic resonance (MR) could provide important information for diagnosis. CT showed irregular destruction on bone margin of the jugular foramen. MR demonstrated iso or hypointense on T1WI, hyperintense on T2WI and heterogeneous contrast-enhancement. Surgical approaches were chosen upon the sizes and scopes of the tumors. Inferior temporal fossa A approach was adopted in 12 cases, inferior temporal fossa B approach in 2 cases and mastoid combined parotid approach in 1 case. Five patients with facial nerve involved received great auricular nerve graft. The House Brackmann (H-B) grading scale was used to evaluate the facial nerve function. Preoperative facial nerve function ranked grade Ⅴ in 4 cases and grade Ⅵ in 1 case. Postoperative facial nerve function improved to grade Ⅲ in 2 cases and grade Ⅵ in 3 cases. Five patients presented with cranial nerves Ⅸ and Ⅹ palsies. Hoarseness and cough of 2 cases improved after operation, while the other 3 cases did not. All the patients were diagnosed CSA by histopathology and immunohistochemistry, with immunohistochemical staining showing vimentin and S-100 positive, but cytokeratin negative in tumor cells. All patients survived during 28 to 234 months' follow-up. Two patients suffered from tumor recurrence 7 years after surgery and received revision surgery. No complications such as cerebrospinal fluid leakage and intracranial infection occurred after operation. Conclusions: Jugular foramen CSA lacks characteristic symptoms or signs. Imaging is helpful to differential diagnosis. Surgery is the primary treatment of jugular foramen CSA. Patients with facial paralysis should receive surgery in time as to restore the facial nerve. Long-term follow-up is necessary after surgery in case of recurrence.

Effect of infralimbic area H2S system on fear extinction of rats and its mechanism / 中国药理学通报

Dept of Physiology, School of Basic Medical Sciences, Bitehou Medical University, Yantai Shandong 264003, China Aim To explore the behavior and CBS/H2S levels in infralimbic (IL) medial prefrontal cortex (mPFC) in conditioned fear rats and study the effect of exogenous H2S on conditioned fear extinction of rats and the related mechanism. Methods The rat conditioned fear model was established with sound pairing with an aversive foot shock. Later the repeated single sound was used for extinction training. CBS/H2S con-tent in IL tissues was measured using Western blot and methylene blue method. In vivo extracellular single u-nit recordings were used to examine the frequency of spontaneous discharges of IL neurons. Results 1. CBS/H2S level in IL tissues of conditioned fear model (control group) decreased (P <0. 01) and the freezing level was aggravated (P < 0. 01) , while after extinction training CBS/H2 S level increased (P < 0.01, P < 0. 05) and the freezing level was alleviated (P < 0.01). 2. Freezing level decreased in NaHS group compared with extinction group (P <0. 01) . 3. L-cys-teine increased the frequency of spontaneous discharges of IL neurons (P < 0. 01). Conclusions Learning and memory ability decreases in PTSD model rats owing to the inhibition of CBS/H2S content in IL tissues. The mechanism of behavior improvement of H2S on PTSD model rats may be related to the excitation of H2S on frequency of spontaneous discharges of IL neurons.

Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>Endolymphatic sac tumors (ELSTs) are rare in the general population with much higher prevalence in von Hippel-Lindau(VHL) disease. The purpose of this study is to present two cases of endolymphatic sac tumor with VHL disease with analysis of VHL gene and to explore their association with VHL disease using molecular analysis.</p><p><b>METHODS</b>Clinical data of these two patients from different VHL families were studied. DNAs extracted from peripheral bloods were amplified by the polymerase chain reaction using oligonucleotide primers corresponding to the VHL gene, then compared the mutations with the Human Gene Mutation Database.</p><p><b>RESULTS</b>In case 1, 6 family members were enrolled in the study. Among them, three had been identified to have a germline missense point mutation at codon 194 of the VHL gene exon 1 (p.S65W). The little sister of the patient (case 1) underwent vitrectomy for retinal hemangioblastoma 5 years ago in another hospital. The mother of the patient (case 1) was further diagnosed to have a cerebellar hemangioblastoma and renal carcinoma in the following physical examination. Case 2 with her parents were also tested. Codon 499 of the VHL gene exon 3 (p.R167W) were detected in case 2 and her mother, but the mother refused further examination.</p><p><b>CONCLUSIONS</b>The genetic diagnosis plays an important role in early detection of symptomatic patients and suspected patients. Clinical screening for members of the VHL families, and close follow-up of carriers allow an early detection of tumors and the metastasis, which is the most common cause of death of these patients.</p>

Surgical treatment of carotid body tumor: a report of 36 cases / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To study surgical methods and techniques to reduce complications in carotid body tumors (CBT).</p><p><b>METHODS</b>A total of 36 patients with CBT treated by the same surgeon between 2004 and 2012 was reviewed. Clinical presentation, imaging, surgery techniques, postoperative complications and outcomes as well as follow-up evaluations were analyzed.</p><p><b>RESULTS</b>Of 36 patients, 13 males and 23 females, with a median age of 42 years (range 9-61 years). Nineteen patients had a CBT on the left side, 14 on the right side and 3 on both sides. All patients (36 patients with 38 tumors) received surgical treatment. Twenty nine tumors were excised completely. Kudo clamp was used in 6 cases with solid firm tumors and potentially high risks of intracranial complications, with common carotid artery compression exercise before tumor excision. Blood loss in operation were less than 80 ml(n = 17), 100-550 ml(n = 18), 800 ml (n = 1), 1000 ml(n = 1) and 1500 ml(n = 1) respectively. There were more blood loss in cases used embolization (median of 200 ml) than in those without embolization (median of 60 ml) . Post-operative local nerve impairment occurred in 10 patients (26.3%) including persistence of preexisting deficits (n = 8) and newly developed deficits (n = 2). Twenty-seven patients were followed up for 10 month to 6 years with a mean period of 24 months and 9 patients lost of follow-up. One patient with malignant CBT survived with tumor and other 26 patients were alive with no recurrence.</p><p><b>CONCLUSIONS</b>Surgery is the first choice of treatment for CBT. Soft CBT often can be excised completely with preservation of the internal carotid artery (ICA), whereas solid firm CBT encasing the ICA should be evaluated with DSA preoperatively to determine the presence of communicating branches of cerebral vessels, due to the high risk of major vessel compromise. Two-stage operation is often required, in which the ICA is gradually closed following ligation of the external carotid to establish collateral circulation, followed by excision of the tumor and IAC, so that serious intracranial complications can be avoided.</p>

Diagnosis and treatment of the primary parapharyngeal space tumors / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To study the clinical characteristics, diagnosis and surgical managements of the parapharyngeal space tumors.</p><p><b>METHODS</b>A retrospective study of 40 patients with primary parapharyngeal space tumors treated from January 2006 to December 2008 in Chinese PLA General Hospital was performed. Among the 40 patients, there were male 22 patients, female 18 (45%), age ranged from 1 - 77, median 42 years old. CT scan combined with MRI was helpful to diagnose the parapharyngeal space tumor and make surgical plan. The surgical approaches include: trans-oral in 1 patient, trans-cervical approach in 22, transcervical-parotid approach in 8, vertical ramus osteotomy approach in 1, transcervical-partial bone resection in the angle of mandible in 4, transparotid approach in 2, and transcervical in combination with post auricle craniotomy approach in 2.</p><p><b>RESULTS</b>All 40 patients had undergone surgical treatment. Postoperative histopathology showed benign in 28 patients and malignant in 12 patients. The tumors originating from salivary glands were in 15 patients, neurogenic tumors in 12 patients and tumors originating from other tissues were in 13 patients.Among 28 patients with benign tumors, 23 had been cured with one operation, without recurrence during following-up of 13 - 47 months, with a median of 39 months. Among 12 patients with malignant tumors, 6 patients alive (with following-up of 24 - 50 months and a median of 36 months), 3 patients died in half year after operation and 3 patients lost. The post-operative complication included Cerebrospinal fluid leak in one patient, operative field infection in 2 patients, and vagus nerve injury in 3 patients.</p><p><b>CONCLUSIONS</b>Surgery is the first choice for parapharyngeal space tumors. Transcervical approach alone can apply to most tumors and a broader approach is indicated for malignant or large benign tumors. The prognosis is good for the benign lesions, but poor for the malignant tumors.</p>

Histological changes of peripheral vestibular organs in the inner ears of Smad4 conditional knockout mice / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the histological changes in the vestibular endorgans of Smad4 gene conditional knockout mice and to explore the influence of the Smad4 gene on vestibular development.</p><p><b>METHODS</b>Histological changes of periphery vestibular organs in inner ear of Smad4 conditional knockout mice were investigated by frozen sections, immunofluorescence, confocal microscopy, scanning electron microscopy and transmission electron microscopy.</p><p><b>RESULTS</b>There was no Smad4 expression in the inner ear cartilage capsule of Smad4-/- mice. In Smad4+/- mice, Smad4 expression in the same cartilage capsule was positive, and it was strong positive in Smad4+/+ mice. Smad4 expression in vestibular sense epithelium, crista ampullaris and macula, was positive. And no difference was found among these three genotypes. Studying at scanning electron microscopy and transmission electron microscopy levels and anti-filament immunofluorescence showed that no pathological changes were observed in all the three genotype mice.</p><p><b>CONCLUSION</b>Although the Smad4 gene was knockout effectively in the auricular cartilage capsule of Smad4 conditional knockout mice,the histological changes of Smad4 conditional knockout mice in vestibulum auris internal were slightly.</p>

Primary tumors at the cervicothoracic junction / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the diagnosis and treatment of the primary tumors at the cervicothoracic junction.</p><p><b>METHODS</b>We analyzed 17 cases of the tumors diagnosed by surgery and histopathology in Chinese PLA General Hospital from Mar. 2005 to Dec.2009. The clinical manifestations, the surgical approaches and surgical complications were analyzed retrospectively.</p><p><b>RESULTS</b>The main partial of the tumors located in left side in 9 patients and in right side in 8 patients. The operation approaches included the lateral cervical incision (1 patient), the combined cervical and thorax incision (3 patients), the supraclavicular cervical incision (6 patients), the combined cervical incision and superior mediastinotomy (7 patients). Except 3 cases in whom the tumors surrounded or sticked to vital blood vessels or nerves had experienced subtotal resection, the remained 14 cases had total ablation. The morbidity occurred in 5 patients, including subclavian artery, vertebral artery and common carotid artery rupture, recurrent laryngeal nerve trauma, brachial plexus trauma and Horner' syndrome. The histopathology included the cyst, the venous haemangioma, the nodes cell neuroma, the fibroma, the fibrosarcoma, the liposarcoma, the myofibroblastic tumor, the ectopic hamartomas thymoma, the neurofibroma, and neurinoma. All the patients were followed up from 1 to 4.5 years post-operatively, with the mean follow-up of 25.3 months. The two malignant patients were alive being free of tumor with follow-up of 3 year and 8 months, and 2 year respectively. The three cases with tumor partial resection were all alive with tumour. The remained 12 benign cases with total tumor total ablation were all alive free of tumour.</p><p><b>CONCLUSIONS</b>The histopathology of the cervicothoracic junction is diversity. But the commonest pathology is neurinoma. When the tumor is extensive, enveloping or involving the vital blood vessel and nerve, it is difficult to get total ablation, and the morbidity is very high.</p>

Surgical management and prognosis of iatrogenic peripheral facial nerve injury following middle ear surgery / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To discuss the causes, sites, management strategies and curative effects of accidental facial nerve paralysis in the middle ear surgery.</p><p><b>METHODS</b>Forty two cases with peripheral facial nerve paralysis following middle ear surgery who underwent surgical exploration and reanimation were analyzed. Facial nerve decompression, primary end-to-end anastomosis, interpositional nerve grafts with the great auricular nerve and nerve substitution of facial-hypoglossal anastomosis were applied to restoration of the facial nerve function. The facial nerve function was graded according to House-Brackmann (HB) Grade.</p><p><b>RESULTS</b>The most common operation complicating iatrogenic facial nerve injury was mastoidectomy, and the common sites of the injured facial nerve were the tympanic segment and pyramid segment. The facial nerve exploration showed facial nerve edema in nine cases (21.4%), injury of the facial nerve sheath was observed in 10 cases (23.8%), partial nerve fibers transection was found in four cases (9.5%), total nerve fibers transection was detected in 17 cases (40.5%) and two cases (4.8%) with facial nerve anatomical integrity. Facial nerve re-animation methods include facial nerve decompression in 24 cases (57.1%), end-to-end anastomosis in two cases (4.8%), end-to-end anastomosis after nerve transfer in two cases (4.8%), interpositional nerve grafts with the great auricular nerve in 10 cases (23.8%) and facial-hypoglossal nerve anastomosis in four cases (9.5%). The facial nerve function was graded according to House-Brackmann Grade before and after surgery. Twenty eight patients were followed up more than one year. For the 17 cases who received facial nerve decompression, four cases recovered to House-Brackmann Grade I, 11 cases recovered to House-Brackmann Grade II, two cases recovered to House-Brackmann Grade III. For the five cases who underwent the great auricular nerve grafting, three cases recovered to House-Brackmann Grade II, two cases recovered to House-Brackmann Grade III. For the four cases who received facial-hypoglossal nerve anastomosis recovered to House-Brackmann Grade III. For the two cases who underwent the end-to-end anastomosis recovered to House-Brackmann Grade II.</p><p><b>CONCLUSIONS</b>The tympanic segment and pyramid segment are more vulnerable to be injured during mastoid surgery. The injured facial nerve should be explored and repaired. The methods include facial nerve decompression, end-to-end anastomosis, end-to-end anastomosis after nerve transfer, interpositional nerve grafts with the great auricular nerve and facial-hypoglossal nerve anastomosis.</p>

Management of oral mucositis in patients with head and neck cancer receiving chemoradiotherapy and/or molecular targeted therapy / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the prevalence and treatment of oral mucositis caused by concurrent chemoradiotherapy and/or molecular targeted therapy in the patients with advanced squamous cell carcinoma of the head and neck.</p><p><b>METHODS</b>A retrospective study of the incidence and treatment of oral mucositis was performed in 179 patients (155 male and 24 female;124 patients at stage III and 55 patients at stage IV) receiving concurrent chemotherapy and (or) molecular targeted therapy between November 2007 and November 2010. Grade I, II, III and IV oral mucositis occurred respectively in 49, 50, 67 and 13 patients. All the patients received oral mucositis prophylaxis. After the occurrence of oral mucositis, conventional treatment of mucositis combined with quinolone antibiotics were applied.</p><p><b>RESULTS</b>Of the patients, 99 patients with grade I or II and 4 patients with grade III oral mucositis were effectively managed by conventional treatment; 76 patients with grade III or IV oral mucositis were also significantly controled by conventional treatment plus antibiotics. After the treatments, all patients with oral mucositis were under control, with the decrease in the grade of oral mucositis, the reduction of oral pain and the improvement in ability to eat. None of them had radiation treatment breaks.</p><p><b>CONCLUSIONS</b>Combined modality therapy can effectively control chemoradiation-induced oral mucositis in patients with head and neck squamous cell carcinoma, grade I and II oral mucositis were cured by conventional treatment and quinolone antibiotics play a key role in the treatments for grade III and IV oral mucositis.</p>

Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate whether GJB3 and GJB2 interaction to produce a deafness phenotype in a digenic mode of inheritance in Chinese deafness population.</p><p><b>METHODS</b>A series of 108 patients with severe or profound hearing loss carrying one heterozygous GJB2 pathogenic mutation were sequenced for GJB3 coding region, which compared with the data of control group.</p><p><b>RESULTS</b>Three GJB3 missense variants including V84I, A194T and N166S, and four GJB3 nonsense mutation were detected. N166S and A194T were considered as pathogenic which cause nonsyndromic autosomal recessive hearing loss and V84I was considered as polymorphisms in Chinese population. The two patients who carried N166S and A194T respectively in one allele also carried GJB2 235delC mutation in other allele, while the other patient who carried A194T in one allele also carried GJB2 299_300delAT mutation in other allele.</p><p><b>CONCLUSIONS</b>GJB3 and GJB2 might interact to produce deafness in a digenic mode of inheritance, but the point need to be proved in further study.</p>

Rescue of postoperative carotid blowout in head and neck neoplasms / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the prevention and rescuing measures of postoperative fatal bleeding induced by carotid blowout in head and neck tumors.</p><p><b>METHODS</b>Seven cases with postoperative carotid bleeding treated from October 2003 to August 2009 were reviewed retrospectively. Of the patients, 6 were with common carotid blowout and one with internal carotid artery blowout. All patients underwent pre- or post-operative radiotherapy for primary head and neck tumours and 3 patients had neck defect repair with deltopectoral skin flap, frontal flap or free radial arm flap respectively. After carotid blowout bleeding, the patients were treated in time with X ray transcatheter intervention including transcatheter arterial embolization (TAE) and self-expanding covered stent implantation, followed by repairing the carotid region with appropriate myocutaneous flaps.</p><p><b>RESULTS</b>Of 7 patients with carotid blowout, 5 patients were successfully rescued with X ray transcatheter intervention, of them 2 with self-expanding covered stent implantation and 2 with TAE respectively, and other 2 patients died due to rapid bleeding. Of the successfully rescued patients, 2 patients were with the repair of carotid area by pectoralis major myocutaneous flap, one by submental flap and one by local flap, but another one not with flap repair. Follow-up showed the 3 patients rescued with self-expanding covered stent implantation were survival for 6, 12, and 20 months, respectively, and the 2 patients rescued with TAE died of repeated carotid blowout in 2 and 13 months later, respectively.</p><p><b>CONCLUSIONS</b>The planned and timely X ray transcatheter intervention is an effective method to treat carotid blowout bleeding in the patients underwent head and neck tumour surgeries. Compared with TAE, self-expanding covered stent implantation may be more reliable for restoring the blood supply of head and neck region, with less complications. One-stage repair of carotid region with myocutaneous flap is of great importance to protect the carotid and to promote the wound healing.</p>

Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the whole sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation of the gene in China.</p><p><b>METHODS</b>Whole SLC26A4 gene sequence was analyzed by direct sequencing in 80 SLC26A4 gene IVS7-2A to G mutation carriers for the occurrence of a second mutation in the gene.</p><p><b>RESULTS</b>Forty-seven out of the 80 patients were found to have a second heterozygous mutation, whereas a single IVS7-2A to G mutation could be responsible for SNHL in the remaining 33 patients. Three novel mutations, 5+ 2T to A, 14-2A to G and 1825del G, were identified. The five most common mutations include H723R (20%), T410M(5%), C.1705+ 5G to A (15+ 5G to A)(5%), L676Q(5%), and N392Y (3.75%). Exon 17 harbored the most types of compound heterozygosity with the IVS7-2A to G mutation.</p><p><b>CONCLUSION</b>A Chinese specific SLC26A4 diversity was found, and comparable SLC26A4 contributing to deafness. This study suggested that if a heterozygous SLC26A4 mutation is found in a patient with deafness, other exons of the SLC26A4 gene should be analyzed. Furthermore, double heterozygosity of the SLC26A4 gene may also account for some of the disease phenotype.</p>

Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the etiology of patients with severe to profound hearing loss and to identify the ratio of hereditary hearing loss in Chifeng area in Northern China.</p><p><b>METHODS</b>DNA were extracted from peripheral blood of 134 deaf patients from Chifeng special educational school and 100 normal hearing controls in Northern China. Audiology examinations showed that all patients had severe to profound bilateral sensorineural hearing impairment. Sequence analysis of the whole coding areas of GJB2, GJB3, GJB6, SLC26A4, mtDNA12SrRNA and mtDNAtRNASer(UCN) were performed. Individuals carrying SLC26A4 mutation were given further temporal bone CT scan.</p><p><b>RESULTS</b>The ratio of hearing loss related to genetic factors in this population was 60.45% (81/134). About 33.58% (45/134) of the patients were given accurate genetic diagnosis. GJB2 mutations were responsible for approximately 17.16% of the cases in ChiFeng area. By screening SLC26A4 followed by temporal bone CT scan, we diagnosed 20 cases of enlarged vestibular aqueduct (EVA) and/or other inner ear malformation. SLC26A4 mutations account for about 14.93% of the cases. The aminoglycoside-related mtDNA 1555A>G mutation accounted for 0.76% of the cases in Chifeng area. In addition, another 13.43% (18/134) of the cases carried heterozygous GJB2 mutation and their hearing loss may be related to GJB2. 6.72% (9/134) of the cases carried heterozygous SLC26A4 mutation who were not found EVA by temporal bone CT or not took CT examination for some reasons. However, their hearing loss may also be SLC26A4-related. About 2.24% (3/134) of the cases carried mtDNA 12SrRNA 1095 T>C which may also be an aminoglycoside-related mutation and very likely be the cause of hearing loss. GJB3 might participate in the pathomechanism of hearing loss in 1.49% (2/134) of the patients. GJB6 mutation was not detected in this population.</p><p><b>CONCLUSIONS</b>The ratio of hearing loss related to genetic factors in the sample drawing population from Chifeng was 60.45% (81 cases). GJB2 is the most common gene and SLC26A4 is the second common gene next to GJB2 that cause deafness in this area.</p>

New surgical method for contact granuloma of larynx / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>For the purpose of improving the surgical effect of contact granuloma of larynx, a new surgical method was used and its effect observed.</p><p><b>METHODS</b>Under suspension laryngoscope, a part of cartilage of vocal process of arytenoid cartilage was removed until the cartilage was covered by local soft tissue after the granuloma was excised. Among 8 patients in this group, 7 were male, 1 female. Their ages ranged from 29 to 51(median 45 years old). The courses were 1 to 9 months (median 7 months). All patients experienced 1 to 5 times operations (median 2 times).</p><p><b>RESULTS</b>Using the new operative method, all 8 patients were cured for only 1 time, without recurrence followed- up for 1.5 years.</p><p><b>CONCLUSIONS</b>The granuloma were very easily recurred after the operation. The reason might be related to the exposure and inflammation of the local vocal process cartilage. The difficult key of the operation is exposure of granuloma and cartilage of vocal process because of intratracheal anesthetic tube.</p>

Real-time Taqman probe technique system for detecting the MtDNA 1555 A > G mutation / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To establish a Real-time Taqman probe technique system to detect the mtDNA 1555A > G mutation in deaf population.</p><p><b>METHODS</b>Primers and Taqman probes for mtDNA 1555A > G mutation were designed and synthesized. The technique system for detecting mtDNA 1555A > G mutation using Real-time Taqman probes was established. Then the reliability of the technique was tested in 132 patients with severe to profound hearing loss who were detected for the mtDNA 1555A > G mutation by sequencing, Kit method and Real-time Taqman probe technique at the same time. Finally, the results by the above three ways were compared.</p><p><b>RESULTS</b>Thirty-two cases with mtDNA 1555A > G mutation were found by the technique of Real-time Taqman probe. These findings coincided with the results from sequencing and Kit method completely. Both the false positive rate and the false negative rate were zero.</p><p><b>CONCLUSIONS</b>The technique possesses the merits of accuracy, convenience, high sensitivity, high specificity and intuitionistic results, etc. Importantly, the Real-time Taqman probe technique only needs 1.5 hours to detect the 1555A > G mutation and it saves 4.5 hours for one reaction compared with the Kit method popularly used nowadays. The technique system of detecting mtDNA 1555A > G mutation is reliable. It's suitable for large-scale detecting and preventive diagnosis of mtDNA 1555A > G mutation.</p>

Analysis of traumatic laryngotracheal stenosis in 63 cases / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore the surgical treatment and the principle of selecting approaches in traumatic laryngotracheal stenosis.</p><p><b>METHODS</b>Sixty three cases of traumatic laryngotracheal stenosis treated in the Department of Otolaryngology, Head and Neck Surgery, Chinese People's Liberation Arauy General Hospital from 1993-2006 were reviewed. The surgical treatment and the effects were analyzed.</p><p><b>RESULTS</b>Among the 63 cases, 99 operations were accomplished in total, excluding tracheotomy and the closure operation for the fistula. Forty patients had experienced one operation (63.5%), 15 cases (23.8%) had 2 operations, 5 cases had 3 operations, 2 cases had 4 operations, and one case had 6 operations. Fifteen initially estimated as laryngotracheal stenosis with intact framework had supporting laryngoscopic surgery, 11 cases decannulated successfully after single operation. Primary laryngotracheal split and plasticity with T tube implantation were accomplished in 36 cases, with 20 cases decannulated. Among 10 cases experienced laryngotracheal split, skin graft in laryngotracheal cavity with T tube implantation, 7 decannulated. Among 6 cases of laryngotracheal split, pedicled hyoid flap transfer for reconstruction of the laryngotracheal framework defect, 4 cases decannulated. Tracheal and cricotracheal resection and end-end anastomosis were performed in 9 cases, 7 cases decannulated after single procedure. Two cases of subglottic stenosis with tracheoesophageal fistula were repaired with laryngotracheal plasticity in single procedure successfully. Fifty seven patients were decannulated after different procedures with variable hoarseness, within 6 months to 5 years follow-up. Six cases failed in decannulation. The decannulation rate was 90.5%.</p><p><b>CONCLUSIONS</b>Traumatic laryngotracheal stenosis is a complex problem that usually needs a longer time for reconstruction and a different ways of approaches. It is necessary to evaluate the laryngotracheal framework defect, the degree and extension of stenosis systematically before operation for surgical planning.</p>

Clinical analysis of adenoid cystic carcinoma of external auditory canal / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore methods of treatment for adenoid cystic carcinoma of external auditory canal, and discuss the correlating factors that effect prognosis.</p><p><b>METHODS</b>A retrospective analysis of 19 cases of adenoid cystic carcinoma of external auditory canal treated from 1988 to 2004 was carried out. Based on University of Pittsburgh TNM staging system of external auditory canal carcinoma, 19 cases were classified into groups as 5 cases in T1, 2 in T2, 6 in T3, and 6 in T4. Local resection was performed in cases in stage T1 and T2, while radical mastoidectomy or temporal bone resection was performed in stage T3 and T4. Radiotherapy was applied after operation. Relapsed cases with isolated metastasis were treated by surgery. Multiple metastasis were treated with radiotherapy.</p><p><b>RESULTS</b>The follow-up time is from 6 months to 19 years, and the median is 44 months. There're 8 cases with more than 5 years' follow-up. Twelve patients relapsed and 7 had metastasis but 4 died. The cases with positive incisal edge after first operation relapsed even treated with radiotherapy. In recurrent cases, 9 cases received more than 2 operations, 8 more than 3, and 4 received 4 operations.</p><p><b>CONCLUSIONS</b>The adenoid cystic carcinoma of external auditory canal grows insidiously, and relapses frequently. But the patients can live long with neoplasm implanted. A wide surgical excision combined with post operative radiotherapy was proposed, and negative incision edge should be confirmed. Recurrent cases can be treated with several operations to elongate survival. Multiple relapses will cause metastasis more frequently. Metastasis is the main reason to cause death.</p>

Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To investigate the whole sequence of SLC26A4 gene among 1552 deaf students from 21 regions of China with SLC26A4 hot spot mutation IVS7-2A > G and analyze the epidemiological state of enlarged-vestibular-aqueduct-syndrome (EVAS) related hearing loss in China.</p><p><b>METHODS</b>DNA was extracted from peripheral blood of 1552 students from deaf and dumb school of 21 regions in China. The nationality of the 1552 cases covers Han (1290 cases), Uigur (69 cases), Hui (37 cases), Mongolia (31 cases), Yi, Zhuang, Bai, Miao and other 13 nationalities (125 cases). Firstly, all subjects were analyzed for the hot spot mutation IVS7-2A > G by direct sequencing. Those carrying a single heterozygous IVS7-2A > G were given further analyzed for the probable second mutation in other exons except exon7 and exon8 of SLC26A4. One hundred and fifty cases with normal hearing were in the control group.</p><p><b>RESULTS</b>The sequencing results revealed 197 cases carrying IVS7-2A > G, of whom 83 carrying IVS7-2A > G homozygous mutation, 114 carrying IVS7-2A > G heterozygous mutation. Of the 114 cases with heterozygous IVS7-2A > G, 78 cases were found to have another mutation and 36 cases were found no other mutation in SLC26A4. Of the 1552 cases, the percentage of cases carrying homozygous IVS7-2A > G and compound heterozygous mutations was 10.37% (161/1552). Of the 78 cases with SLC26A4 compound heterozygous mutations, the mutations except IVS7-2A > G were found mainly in exon 19, 10, 17, 15, 11 + 12, 14 and 3. Twenty-one novel SLC26A4 mutations were found. In the control group, there were only 3 cases carrying heterozygous IVS7-2A > G, and no other mutation in SLC26A4 was found.</p><p><b>CONCLUSIONS</b>SLC26A4 mutations account for at least 10% of EVAS related hereditary hearing loss in China. It's of great importance to screen SLC26A4 gene for making aetiological diagnosis for deafness. The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population. We also provide preliminary evidence for the hot spot areas of SLC26A4.</p>

Investigation of surgical managements of olfactory neuroblastoma / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To evaluate the safety and efficacy of transnasal endoscopic resection and craniofacial resection through an external approach for olfactory neuroblastoma (ONB).</p><p><b>METHODS</b>Thirty two patients with ONB treated between 1987 and 2006 were retrospectively reviewed.</p><p><b>RESULTS</b>The patients were followed up for 8-135 months, the median follow-up time was 20 months. The longest follow-up time of patients treated by endoscope was 79 months, and patients treated by combined endoscope and transcranial surgery was 87 months. At Kadish stage B the 3-year survival rate of patients with transnasal endoscopic resection was 78.8% and at Kadish stage C it was 50.0%. At Kadish stage B the 3-year survival rate of patients with craniofacial resection through an external approach was 60.0% and at Kadish stage C it was 44.4%. The bleeding amounts in above two approaches were 140 ml and 450 ml. The average length of stay in hospital in transnasal endoscopic resection approach was markedly reduced (P < 0. 01).</p><p><b>CONCLUSIONS</b>Olfactory neuroblastoma can be safely and effectively excised and reconstructed endoscopically with comparable degrees of tissue removal as with external approaches. The time of stay in hospital can be reduced and the surgical trauma can be diminished.</p>

Effect of aldosterone on aquaporin and ionophorous protein expressions in guinea pig cochlea / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the effect of aldosterone on aquaporin and ionophorous protein expressions in the cochlea of guinea pigs.</p><p><b>METHODS</b>RT-PCR was used to detect the expression of Na-K ATPase and epithelial sodium channel (ENaC) mRNA in the cochlea of guinea pigs 6 h after intraperitoneal aldosterone injection. Immunohistochemistry was used to detect the expression of aquaporin 1(AQP1) in the cochlea 1 month after the injection.</p><p><b>RESULTS</b>Early after aldosterone injection, the expression level of Na-K ATPase beta(1) and beta(3) subunit mRNAs remained unchanged and level of ENaC alpha subunit mRNA was up-regulated in the cochlear lateral wall (P<0.05), and 1 month after the injection, the expression of AQP1 protein was down-regulated (P<0.05).</p><p><b>CONCLUSION</b>The effect of aldosterone on the cochlea is mediated possibly through its action on the genome, and aldosterone may cause ion concentration alterations to induce endolymphatic hydrops.</p>