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1.
Drug Evaluation Research ; (6): 1235-1240, 2017.
Artigo em Chinês | WPRIM | ID: wpr-664696

RESUMO

Examination and assessment of target organ toxicity in toxicologic pathology of preclinical safety evaluation of drugs should combine the results of the gross pathology,histopathology and clinical pathology examination data in a well-considered,stepwise approach.In addition,the nomenclature and diagnostic criteria recommended by INHAND should be used to avoid subjective and inappropriate diagnosis.In this paper,we briefly introduced the basic principles for the examination of organ toxicity in toxicology studies,gross pathology,histopathology,diagnostic approach,procedures,and considerations,international harmonization of diagnostic term and criteria,clinical pathology parameters analysis,results of a well-concerted combination of anatomical and clinical pathology data so as to provide some reference for the examination and assessment of target organ toxicity in toxicologic pathology in the field ofpreclinical safety evaluation of drugs in China.

2.
Drug Evaluation Research ; (6): 1348-1354, 2017.
Artigo em Chinês | WPRIM | ID: wpr-664663

RESUMO

Neurotoxicity is one common adverse effect caused by many drugs or compounds.In the early phase of new drug development,it is necessary to screen for neurotoxicants.Neurotoxicity studies in nonhuman primates (NHP) are used to evaluate the neurotoxicity of small-molecule drugs or vaccines that may affect the nervous system across the blood-brain barrier during preclinical safety assessment.Toxicologic pathological evaluation or neuropathological examination is the "gold standard" for the evaluation of drug neurotoxicity in preclinical drug safety studies.In this paper,the majory factors influencing the quality of neuropathology evaluation in toxicology,including the general strategy of neuropathology evaluation,the optimal timing of evaluation,the specific blood-brain barrier in the nervous system,the method of sampling in the histopathology of nerve tissue,and the interference of artificial artifacts in diagnosis of neuropathology,were detailly analyzed in order to provide a reference for setting guidelines of neurotoxicity risk assessment in China and pathologists and toxicologists engaged in nonclinical neurotoxicity studies.

3.
Drug Evaluation Research ; (6): 1365-1371, 2017.
Artigo em Chinês | WPRIM | ID: wpr-663964

RESUMO

Toxicologic pathology plays an important role in the safety evaluation of drugs.The results of toxicologic pathology can answer the basic problems of pathological lesions such as location,severity grading,nature and prognosis,etc.Necropsy and gross pathology examination are important aspects of toxicologic pathology assessment.Procedures typically include preparation for the necropsy,euthanasia procedures,identification and recording all gross lesions,collection of tissues listed in the study protocol,determination of organ weight,as well as tissue fixation so as to be ready for the subsequent tissue processing and histopathology examination.All the procedures must be done in a consistent manner and in accordance with standard operating procedures (SOPs).The present paper briefly introduced the principles of necropsy and gross pathology examination for toxicologic pathology in order to standardize the procedures and to lay foundation for the improvement of the histopathology examination in the field of preclinical safety evaluation of drugs of China.

4.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 916-918, 2010.
Artigo em Chinês | WPRIM | ID: wpr-277562

RESUMO

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of concomitant vertigo in patients with sudden deafness (SD).</p><p><b>METHODS</b>Ninety-six cases of SD were reviewed retrospectively from January 2005 to July 2009. SD and benign paroxysmal positional vertigo (BPPV) were diagnosed according to the guides of China Medical Association. The characteristics of vestibular function and the order of the onset of cochlear and vestibular symptoms were analyzed.</p><p><b>RESULTS</b>Of all 96 cases, 23 (24.0%) cases presented with BPPV; 58 (60.4%) cases took the form of unilateral vestibular hypofunction and 15 (15.6%) cases had normal vestibular function. Time interval between cochlear and vestibular symptoms was as follows: 46 patients could tell the exact time of onset of cochlear and vestibular symptoms, of which 6 (13.0%) cases occurred simultaneously; 4 (8.7%) cases presented vertigo within 1 hour after onset of cochlear symptom hypofunction; 21 (45.7%) cases showed time interval between 1 hour and 24 hours; and 13 (28.3%) cases presented vertigo at several days (less than 10 days) after cochlear symptoms. And only in 2 (4.3%) cases did vertigo occur before cochlear symptoms.</p><p><b>CONCLUSIONS</b>Concomitant vertigo in idiopathic SD took the forms of normal or abnormal vestibular function, some of which were BPPV. Occurrence of vertigo was after cochlear symptoms.</p>


Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Perda Auditiva Súbita , Diagnóstico , Prognóstico , Estudos Retrospectivos , Vertigem , Diagnóstico
5.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 565-569, 2010.
Artigo em Chinês | WPRIM | ID: wpr-276434

RESUMO

<p><b>OBJECTIVE</b>To establish the criteria of the disproportionate loss of Mandarin monosyllable discriminative abilities to pure tone hearing thresholds.</p><p><b>METHODS</b>Total of 165 patients with varying degrees of sensorineural hearing loss were recruited for routine audiological evaluations. The speech discrimination scores were obtained by Mandarin phonemic-balanced monosyllable lists via self-made speech audiometric software. The Performance-Intensity (P-I) function for individual ear was obtained by the same list which was administrated in ascending intensities, with 25 monosyllables presenting randomly. The lowest intensity was determined by the lowest pure tone threshold among all audiometric frequencies minus 5 dB. The intensities were increased in 5 dB step until the score was 100% or the intensity was reached to the patient's uncomfortable level. The PB(max) was obtained from the P-I plot. Three parameters about pure tone average hearing thresholds, including PTA(1) (average of 0.5, 1 and 2 kHz), PTA(2) (average of 1, 2 and 4 kHz) and PTA(3) (average of 0.5, 1, 2 and 4 kHz), as well as three parameters about audiogram slope, including Slope(0.5) (4 kHz minus 0.5 kHz), Slope(1) (4 kHz minus 1 kHz) and Slope(2) (4 kHz minus 2 kHz), were calculated respectively. The correlations between PB(max) and above parameters were analyzed by SPSS10.0 statistical software.</p><p><b>RESULTS</b>The audiogram slopes were not shown any correlation with PB(max), while the pure tone average thresholds, especially PTA(3) (r = -0.595, P = 0.000) were confirmed to correlate with PB(max). In the scatter plot based on PB(max) and PTA(3), a linear boundary was constructed encompassing approximately 99% of observed data collected from the sensorineural hearing-impaired.</p><p><b>CONCLUSION</b>Any PB(max) score falling below the boundary should be considered with high possibility and disproportionately poor comparison with pure tone hearing thresholds.</p>


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Audiometria de Tons Puros , Audiometria da Fala , Limiar Auditivo , Perda Auditiva Neurossensorial
6.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 623-626, 2009.
Artigo em Chinês | WPRIM | ID: wpr-317309

RESUMO

<p><b>OBJECTIVE</b>To investigate the incidence of complications of canalith repositioning procedure (CRP) for benign paroxysmal positional vertigo (BPPV) in order to recognize and intervene the complication.</p><p><b>METHODS</b>Totally 430 cases of BPPV were treated by CRP between Jan., 2005 and Nov., 2007. The patients with complication were retreated with CRP according to the new canals otolith falling into.</p><p><b>RESULTS</b>There were 313 patients with posterior canal BPPV, among which 5 had complications during CRP for posterior canal BPPV and 3 for horizontal canal BPPV. And 1 patient transformed from cupulolithiasis to canalithiasis during Semont CRP, which made CRP possible. Three patients had horizontal BPPV during CRP for posterior canal BPPV. Horizontal BPPV emerged during CRP for anterior canal BPPV in 1 patient. CRP for the posterior BPPV had more patients with complication than that of CRP for the anterior BPPV, but the percentage was on the contrary, and they were 1.9% (8/313) and 28.6% (2/7) respectively. The rate of complication during CRP was 3.3% (14/430) and all of them recovered well with CRP.</p><p><b>CONCLUSIONS</b>There are possibility for canal otolith transferred from one canal to another. Careful observation of nystagmus and reevaluation of the patients with BPPV in case of unsuccessful treatments are crucial to determine the complications.</p>


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Membrana dos Otólitos , Canais Semicirculares , Vertigem , Diagnóstico , Terapêutica
7.
Acta Academiae Medicinae Sinicae ; (6): 643-646, 2008.
Artigo em Chinês | WPRIM | ID: wpr-270632

RESUMO

<p><b>OBJECTIVE</b>To investigate the visual evoked potentials in adults with migrainous vertigo (MV).</p><p><b>METHODS</b>Totally 113 patients with MV were enrolled from vertigo clinic. Patients received necessary laboratory examinations as well as pattern visual evoked potential (PVEP) testing.</p><p><b>RESULTS</b>Definite MV accounted for 46.9% (53/113) and probable MV accounted for 53.1% (60/113). Among 74 patients who received PVEP, the results were normal in 35 patients (47.3%) and abnormal in 39 patients (52.7%). The abnormal manifestations included lowered N75-P100 amplitude, elongated latency of P100, and lowered N75-P100 amplitude combined with delayed latency of P100. Seven patients with MV had unilateral lowered N75-P100 amplitude and 4 had bilateral abnormal amplitude. Nine patients had unilateral delayed latency of P100 and 11 had bilateral abnormal latency. Four patients had unilateral and 4 had bilateral abnormal N75-P100 amplitude and latency of P100.</p><p><b>CONCLUSIONS</b>MV patients usually have abnormal PVEP. PVEP may become a useful electrophysiological test in the diagnosis of MV.</p>


Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Potenciais Evocados Visuais , Vertigem , Diagnóstico
8.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 643-646, 2008.
Artigo em Chinês | WPRIM | ID: wpr-317851

RESUMO

<p><b>OBJECTIVE</b>To investigate and analyze the wounded's state of ear, nose, throat, neck and head injury in Wenchuan earthquake.</p><p><b>METHODS</b>The 206 wounded cases, who was treated in No. 452 Hospital of People's Liberation Army, were investigated specially with emphasis on injury cause, severity and treatment.</p><p><b>RESULTS</b>The injured 165 cases among the 206 were in hospital, while the cases who related to the injury of ear, nose and throat were 37 cases (22.4%). Among the inpatients, the trauma of otorhinolaryngology and head and neck included: ear injuries totally 13 cases (including hemotympanum 2 cases), extraneous matter 4 cases, haemorrhagic 4 cases, nasalis and the fracture of nasal bone and nasal sinuses 7 cases (including cerebrospinal rhinorrhea 1 case), zygomatic abscess 1 case, fracture of mandible 4 cases, lip injuries 2 cases and hoarse 2 cases. The inpatients were wounded mostly because of falling and stepping. All the inpatients recovered well after properly management by ENT doctors.</p><p><b>CONCLUSIONS</b>Maxillofacial injury of the wounded those were medical evacuation in the earthquake area, was ignored more readily comparing to the injury of other spots, so specialist should examine early and treat properly the people as soon as possible.</p>


Assuntos
Adolescente , Feminino , Humanos , Masculino , Adulto Jovem , China , Traumatismos Craniocerebrais , Terapêutica , Desastres , Orelha Externa , Ferimentos e Lesões , Orelha Média , Ferimentos e Lesões , Terremotos , Fraturas Ósseas , Terapêutica , Traumatismos Maxilofaciais , Terapêutica , Lesões do Pescoço , Terapêutica
9.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 89-91, 2008.
Artigo em Chinês | WPRIM | ID: wpr-248234

RESUMO

<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>


Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Endoscopia , Estesioneuroblastoma Olfatório , Cirurgia Geral , Cavidade Nasal , Neoplasias Nasais , Cirurgia Geral , Procedimentos Cirúrgicos Otorrinolaringológicos , Métodos , Estudos Retrospectivos
10.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 120-124, 2008.
Artigo em Chinês | WPRIM | ID: wpr-248228

RESUMO

<p><b>OBJECTIVE</b>To investigate the risk factors that may relate with benign vocal fold lesions including vocal fold nodule, vocal fold polyp, chronic laryngitis and Reinke's edema</p><p><b>METHODS</b>In present series, 321 cases who were performed laryngoscope were invited to participate the survey. Among them 168 cases with benign vocal fold lesions composed the case group. Another 153 cases with normal larynx composed the control group. Each case were undertook the same questionnaire. Logistic regression analysis was preformed to investigate the possible risk factors.</p><p><b>RESULTS</b>The result demonstrated the occurring of benign vocal fold lesions positively correlated to five factors, including occupation, work or residence environment noise, alcohol-consuming, voice-using hours per day and abuse of voice. Occupations with intensive voice-use were more vulnerable to developing these disorders. Occurring risk of occupations type II with moderate voice-use was 1.934 times than that of occupations type I with lesser voice-use (OR = 1.934). And risk of occupations type III with upper voice-use was 2.633 times than that of type I. Risk raised 1.302 times with each more hour of voice use per day. OR of the following factors of voice abuse, environment noise, alcohol-consuming was 4.744, 2.115 and 2.177, respectively.</p><p><b>CONCLUSIONS</b>The result suggested that people should abstain from alcohol, lowering the environment noise, prevent overuse and abuse of voice in order to decrease the prevalence of these disorders, which is especially important for the professional voice users, e. g. teachers or managers. The essential therapy for these disorders is to correct bad phonation habits.</p>


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos de Casos e Controles , Doenças da Laringe , Edema Laríngeo , Fatores de Risco , Prega Vocal , Patologia , Distúrbios da Voz
11.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 125-129, 2008.
Artigo em Chinês | WPRIM | ID: wpr-248227

RESUMO

<p><b>OBJECTIVE</b>To evaluate the relationship between labeling index (LI) Ki-67, proliferating cell nuclear antigen (PCNA) and transforming growth factor-beta1 (TGF-beta1) with the clinical behavior of acoustic neuroma.</p><p><b>METHODS</b>Expression of Ki-67, PCNA and TGF-beta1 was detected by immunohistochemistry in 53 specimens of acoustic neuromas. The relationship among tumor proliferation, histological representation, size of tumor, clinical proliferation index of tumor and tumor proliferation activity were analyzed.</p><p><b>RESULTS</b>In all 53 cases, the positive rate of Ki-67 was 77.4% (41/53) but the positive rate of PCNA was 84.9% (45/53). There was significant difference between the proliferate index, clinic growth rate and course of disease (t = 2.14, t = 2.70; P < 0.05). The positive rate of TGF-beta1 was 83.0% (44/53). The correlation of TGF-beta1 with LI (Ki-67) was significant difference (r = 0.36, P < 0.05). Cystic degeneration often occurred in large-size tumor (Z = 4.44, P < 0.05). There was no significant relationship between the expression of LI (Ki-67), LI (PCNA) and TGF-beta1 and the course of disease as well as between the cystic degeneration and the non-cystic degeneration. Although clinic growth rate of cystic degeneration was bigger than that of non-cystic degeneration, there was not statistically significant.</p><p><b>CONCLUSIONS</b>Ki-67 and PCNA are reflected proliferation activities of tumor cells in acoustic neuromas. Cell proliferation-labeling index LI (PCNA) was related with clinical growth rates. TGF-beta1 might participate in the biological behavior of acoustic neuroma. Cystic degeneration was one of special pattern of acoustic neuroma, however, tumor enlargement might due to the volume of the cystic but unrelated to fast proliferation of parenchyma cell.</p>


Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Proliferação de Células , Antígeno Ki-67 , Metabolismo , Neuroma Acústico , Diagnóstico , Metabolismo , Patologia , Antígeno Nuclear de Célula em Proliferação , Metabolismo , Estudos Retrospectivos , Fator de Crescimento Transformador beta1 , Metabolismo , Nervo Vestibulococlear
12.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 287-290, 2008.
Artigo em Chinês | WPRIM | ID: wpr-248183

RESUMO

<p><b>OBJECTIVE</b>The purpose of this study was to observe the ultrastructure of the fibroblasts, collagen and elastic fibers in vocal fold polyps.</p><p><b>METHODS</b>Ten vocal fold polyps and 3 normal vocal fold specimens obtained from total laryngectomy were studied by means of transmission electron microscope and scanning electron microscope.</p><p><b>RESULTS</b>The result showed that in vocal fold polyps, the quantity of fibroblasts increased and there were abundant organelles, suggesting that the fibroblast were in the status of activation. As the main cell to produce lamina propria extracellular matrix, the representation suggested that the extracellular matrix metabolism was active. Leucocytes soakage was observed, suggesting that the inflammation may play a role in the lesion. It was found by scanning electron microscopy that in case of lesions, collagen fibers and elastic fibers arrayed irregularly.</p><p><b>CONCLUSIONS</b>Under pathologic circumstance, fibroblasts, collagen and elastic fibers altered in morphology, which possibly induced the functional alteration.</p>


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos de Casos e Controles , Colágeno , Tecido Elástico , Fibroblastos , Doenças da Laringe , Patologia , Pólipos , Patologia , Prega Vocal , Patologia
13.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 821-825, 2007.
Artigo em Chinês | WPRIM | ID: wpr-309419

RESUMO

<p><b>OBJECTIVE</b>To investigate the incidence of benign paroxysmal positional vertigo(BPPV) and to further understand the possible mechanism of BPPV.</p><p><b>METHODS</b>To observe the incidence of BPPV among vestibular neuritis, sudden deafness, Meniere's disease and Bell's palsy at vertigo clinic from January at 2004 to November at 2006 and to compare the therapeutic results with that of the primary BPPV.</p><p><b>RESULTS</b>There are 4 types of inner ear disorders involved in the concomitant BPPV, ie, vestibular neuritis, sudden deafness, Meniere's disease and Bell's palsy and the incidence are 9.5% (5/53), 38.9% (35/90) and 0.3% (1/381) respectively; and there was 1 case of BPPV concomitant to Bell's palsy. Among the 42 concomitant BPPV, 5 cases were horizontal canal BPPV, 37 cases were posterior canal BPPV, and 1 cases had complicated anterior BPPV during repositioning maneuver. 39 cases of concomitant BPPV were canalithiasis and 3 cases were cupuliothiathitis, of which 75% (27/36) of concomitant BPPV emerged within 1/2 years after the onset of primary inner ear disorders. The therapeutic efficacy of the concomitant BPPV with canalith repositioning was similar to that of the primary type of BPPV.</p><p><b>CONCLUSIONS</b>Following some inner ear disorder, BPPV could emerge, such as sudden deafness, vestibular neuritis and Meniere's disease. The most common type of BPPV was canalithiasis of posterior canal, and the cupulolithiasis of horizontal canal was uncommon. The anterior canal therapeutic efficacy of the concomitant BPPV with canalith repositioning was similar to that of the primary type of BPPV. The therapeutic efficacy of the concomitant BPPV with canalith repositioning was similar to that of the primary type of BPPV.</p>


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Vertigem Posicional Paroxística Benigna , Otopatias , Terapêutica , Orelha Interna , Vertigem , Terapêutica
14.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 843-848, 2007.
Artigo em Chinês | WPRIM | ID: wpr-309414

RESUMO

<p><b>OBJECTIVE</b>To investigate the pathogenic mechanism of vocal fold polyps and Reinke's edema.</p><p><b>METHODS</b>A reverse-transcriptase polymerase chain reaction (RT-PCR) technique was adopted, mRNA levels of 9 proteins were measured in 12 vocal fold polyps, 2 Reinke's edema and 5 normal vocal folds (from total laryngectomy).</p><p><b>RESULTS</b>The results showed that in the vocal fold polyps, mRNA levels of collagenase and fibromodulin descended and levels of fibronectin increased (P < 0.05). mRNA levels of lysyl oxidase and hyaluronic acid synthase 2 had no statistic difference between lesions and normal vocal folds (P > 0.05). mRNA express of tropoelastin exon, elastase and hyaluronidase was positive in part of lesion tissue and positive in all normal vocal folds. mRNA of procollagen I was negative in both groups. In the Reinke's edema, mRNA express of fibronectin was close to vocal fold polyps and mRNA express of fibromodulin was close to normal vocal folds.</p><p><b>CONCLUSIONS</b>It was speculated phonation trauma and vocal fold restoring to trauma played an important role in pathogenic mechanism. Fibromodulin and fibronectin were two components involved in the disorders.</p>


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas da Matriz Extracelular , Genética , Fibronectinas , Genética , Edema Laríngeo , Genética , Patologia , Pólipos , Genética , Patologia , RNA Mensageiro , Genética , Prega Vocal
15.
Chinese Medical Journal ; (24): 46-49, 2007.
Artigo em Inglês | WPRIM | ID: wpr-273340

RESUMO

<p><b>BACKGROUND</b>Waardenburg syndrome type I (WS1) is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese. In order to explore the genetic background of Chinese WS1 patients, a mutation screening of PAX3 gene was carried out in four WS1 pedigrees.</p><p><b>METHODS</b>A questionnaire survey and comprehensive clinical examination were conducted in four Chinese pedigrees of WS1. Genomic DNA from each patient and their family members was extracted and exons of PAX3 were amplified by PCR. PCR fragments were ethanol-purified and sequenced in both directions on an ABI_Prism 3100 DNA sequencer with the BigDye Terminator Cycle Sequencing Ready Reaction Kit. The sequences were obtained and aligned to the wild type sequence of PAX3 with the GeneTool program.</p><p><b>RESULTS</b>Two nonsense PAX3 mutations have been found in the study population. One is heterozygous for a novel nonsense mutation S209X. The other is heterozygous for a previously reported mutation in European population R223X. Both mutations create stop codons leading to truncation of the PAX3 protein.</p><p><b>CONCLUSIONS</b>This is the first demonstration of PAX3 mutations in Chinese WS1 patients and one of the few examples of an identical mutation of PAX3 occurred in different populations.</p>


Assuntos
Feminino , Humanos , Masculino , Códon sem Sentido , Fator de Transcrição PAX3 , Fatores de Transcrição Box Pareados , Genética , Síndrome de Waardenburg , Genética
16.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 335-340, 2006.
Artigo em Chinês | WPRIM | ID: wpr-308903

RESUMO

<p><b>OBJECTIVE</b>To investigate the value of intraoperative auditory monitoring techniques in acoustic neuroma surgery.</p><p><b>METHODS</b>Ten cases with acoustic neuroma were resected with retrosigmoid approach. Continuous hearing monitoring of auditory brainstem responses (ABR) and transtympanic electrocochleography (ECochG) was performed during operation.</p><p><b>RESULTS</b>Before surgery, 3 patients had class A hearing, 4 had class B hearing, and 3 had class C hearing. With ABR monitoring, 5 patients had waves I , III and V, 5 had only waves I preoperation. After anesthesia,only 2 cases had waves I, III and V, 6 had wave I (Compound action potential, CAP N1 is equivalent to wave I of ABR) and 2 had no waves. The hearing was preserved in 2 cases, which had class A hearing post operation with tumor size <2 cm. With continuous hearing monitoring, the waves of I , III and V could be evoked in one case. In another case, the waves of I, III could be evoked after the tumor resection with the disappearance of wave V. The hearing was not preserved in 8 cases. The 6 out of 8 cases showed up CAP (waves I ) waveform. The CAP amplitudes decreased significantly in 4 cases and even dropped to zero while dissecting the tumor at the lateral end of the internal auditory canal (IAC) or clamping the internal auditory artery (IAA) during operation. After surgery, the CAP amplitudes were recovered to 50%-60% of normal level or normal. In one case, although the cochlear nerve was cut down, the CAP could still be recorded after the tumor resection. However, the CAP amplitudes was dropped to zero while pressurized and pulled cochlea nerve of brainstem lateral and the wave disappeared post-operation in another cases. The waves had not been recorded in two cases after anesthesia. One of them showed low amplitude of CAP wave when the tumor partially removed. The others had no wave all the time.</p><p><b>CONCLUSIONS</b>In combination with ABR monitoring, ECochG proved to be a useful supplementary tool for hearing preservation in acoustic neurinoma surgery. Drilling of the IAC and tumor removal at the lateral end of the IAC were the most critical steps for achieving hearing preservation. The surgeon's experience are the most significant factors influencing the hearing outcome after removal of acoustic neuroma.</p>


Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Audiometria de Resposta Evocada , Nervo Coclear , Potenciais Evocados Auditivos do Tronco Encefálico , Monitorização Intraoperatória , Métodos , Neuroma Acústico , Cirurgia Geral
17.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 669-672, 2006.
Artigo em Chinês | WPRIM | ID: wpr-315634

RESUMO

<p><b>OBJECTIVE</b>To investigate the audio-vestibular function and the possible mechanism of benign paroxysmal positional vertigo (BPPV) and to raise the therapeutic strategy.</p><p><b>METHODS</b>Patients with BPPV were tested with pure tone audiometry, high frequency ABR audiometry, bithermal caloric test and vestibular evoked myogenic potential test (VEMP). The positive rate of these otologic function test were analyzed.</p><p><b>RESULTS</b>Primary BPPV comprised 82 percent (70/86) of patients with BPPV. Among all of the patients, the results of pure tone audiometry were abnormal in 52 percent (45/86) of the cases. High frequency auditory brainstem response (ABR) was abnormal in 60 percent (30/50) of cases. Vestibular evoked myogenic potential (VEMP) was abnormal in 34 percent (11/32) of cases who had this examination. And bithermal caloric test were abnormal in 28 percent (20/72) of cases. In the abnormal cases, 67 percent (12/18) of cases were ipsilateral with BPPV. The majority of the BPPV with abnormal results of bithermal caloric test (89%, 16/18) belong to posterior semicircular canal BPPV.</p><p><b>CONCLUSIONS</b>The incidence of primary BPPV was higher than that of secondary BPPV. The abnormality in superior labyrinth was much more correlated with the occurrence of BPPV. The inner ear ischemia might be a factor in the morbidity of BPPV, especially for the primary BPPV.</p>


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Testes Calóricos , Vertigem , Diagnóstico , Potenciais Evocados Miogênicos Vestibulares , Testes de Função Vestibular , Vestíbulo do Labirinto
18.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 726-730, 2006.
Artigo em Chinês | WPRIM | ID: wpr-315617

RESUMO

<p><b>OBJECTIVE</b>To analyzed the characteristics of migrainous vertigo (MV), a kind of paroxysmal vertigo, in order to demonstrate the extent of damage and dysfunction in MV and to judge whether MV is peripheral or central vertigo.</p><p><b>METHODS</b>Twenty-two cases of acute (5 cases) or subacute (17 cases) MV were examined with oto-neurological tests, spontaneous nystagmus, positional nystagmus and auditory tests.</p><p><b>RESULTS</b>There were 6 males and 16 females. Among those patients, 15 had migraine, 17 motion sickness, 15 family history of migraine or motion sickness, 1 visual aura, 7 motion intolerance (vertigo from head movement and body movement), 4 photophobia, 6 phonophobia and 5 vertigo from insomnia and emotion. There were likely to have vertigo in menstrual period in 2 cases. The duration of vertigo lasted from minutes to days. For pure-tone audiometric, 9 were normal which from mild to moderate hearing loss. Three cases had abnormal high frequency ABR bilaterally and 10 abnormal unilaterally. Subjective visual vertical were normal in all of the cases. Vestibular evoked myogenic potentials were abnormal in 14 cases (13 had low amplitude and 1 had longer latency of P13 wave). Bithermal caloric test was abnormal in 3 cases and 11 had abnormal ocular movement (9 with low gain of optokinetic nystagmus, 1 with overshoot in saccade and 1 with vertical nystagmus after head shaking), in which 10 had abnormal high frequency ABR and 1 was normal.</p><p><b>CONCLUSIONS</b>MV could be peripheral or central vertigo and MV should be included in the differentiation of peripheral and central vertigo.</p>


Assuntos
Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Eletronistagmografia , Potenciais Evocados Auditivos do Tronco Encefálico , Transtornos de Enxaqueca , Vertigem
19.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 736-739, 2006.
Artigo em Chinês | WPRIM | ID: wpr-315614

RESUMO

<p><b>OBJECTIVE</b>To clarify the clinical significance of vibration-induced nystagmus (VIN) and to calculate the sensitivity and the specificity of the vibration test.</p><p><b>METHODS</b>One hundred and twelve patients with unilateral peripheral vestibular disorders and 30 normal subjects were enrolled into this study. However, patients with spontaneous nystagmus were excluded. Vibratory stimuli (approximately 92Hz) were presented to the mastoids and the forehead. Patients and normal subjects also underwent head shaking testing and caloric testing.</p><p><b>RESULTS</b>Of the 112 patients, 91 (81%) showed VIN which were mainly horizontal. VIN was more frequently evoked on the mastoids than on the forehead. In the majority of patients (76 cases), the direction of VIN was toward the healthy side, whereas patients with Meniere's disease (15 cases), showed nystagmus toward the affected side. None of 30 normal subjects showed VIN. Whereas, HSN was found in 70 (63%) patients and 9 (30%) in normal subjects. Of 112 patients, 10 showed a canal paresis (CP) value of caloric test less than 25% ,while 32 with a CP value between 25% and 40%, 48 with a CP value between 40% and 70%, and 22 with a CP value more than 70%. It is notable that with increasing canal paresis value on caloric testing, VIN was more likely to be evoked.</p><p><b>CONCLUSIONS</b>VIN testing is a simple, non-invasive and well-tolerated clinical test that indicates unilateral peripheral vestibular dysfunction. VIN testing had greater sensitivity and the specificity than HSN testing in the diagnosis of unilateral peripheral vestibular disorders.</p>


Assuntos
Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Testes Calóricos , Estudos de Casos e Controles , Nistagmo Patológico , Diagnóstico , Sensibilidade e Especificidade , Doenças Vestibulares , Diagnóstico
20.
Chinese Medical Journal ; (24): 211-216, 2006.
Artigo em Inglês | WPRIM | ID: wpr-282779

RESUMO

<p><b>BACKGROUND</b>Large vestibular aqueduct syndrome (LVAS) is a major cause of hearing loss in childhood. This study aimed at measuring external aperture of enlargement of the vestibular aqueduct (EVA) and analyzing relationship between the size of external aperture and hearing loss.</p><p><b>METHODS</b>Diagnostic criteria of LVAS were based on hearing loss and CT images. CT images of temporal bone of 100 LVAS patients were collected and 60 control subjects were reviewed retrospectively in the past 10 years. A battery of audiometric and vestibular function tests were performed. The width of the vestibular aqueduct (VA) was measured on axial CT images of the temporal bone.</p><p><b>RESULTS</b>One hundred patients (65 men, 35 women) were diagnosed as having the isolated EVA. Hearing loss mostly occurred in early childhood. The diagnosis age of LVAS was 7.7 years on average. The causes of hearing loss could not be confirmed by initial consult. Typically, audiometric curve is the high-frequency down-sloping configuration. 92% of the cases had severe or profound sonsorineural hearing loss (SNHL). The mean size of the external aperture was (7.5 +/- 1.2) mm in present LVAS. Statistical analysis showed that the degree of hearing loss is unrelated to the width of VA.</p><p><b>CONCLUSIONS</b>LVAS is a distinct clinical entity characterized by fluctuating, progressive SNHL. The degree of hearing loss is unrelated to the size of external aperture of VA. The protective management and hearing aid have become the main therapies. The cochlear implantation might be performed if the hearing loss affected learning at school.</p>


Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Erros de Diagnóstico , Perda Auditiva Neurossensorial , Estudos Retrospectivos , Síndrome , Tomografia Computadorizada por Raios X , Aqueduto Vestibular , Anormalidades Congênitas , Patologia
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