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1.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 232-237, 2018.
Article in Chinese | WPRIM | ID: wpr-809866

ABSTRACT

The auditory nervous system has a rapid development period after birth, if there lack enough sensory(auditory) stimulation during this period, there should be a serious and negative impact on the growth and development of auditory center. In the auditory deprivation persist in the critical period, the auditory and visual cortex should be in cross-model reorganization and reorientation of cortical function. Cochlear implantation, especially intervention in the younger age, could excite the auditory cortex, and continuous stimulation to the cerebral cortex can promote the adaptation and reconstruction of auditory function. Speech and language skills can be developed by the synergistic effect of multiple sensory modalities.

2.
Journal of Audiology and Speech Pathology ; (6): 468-471, 2017.
Article in Chinese | WPRIM | ID: wpr-607356

ABSTRACT

Objective To explore optimal initial the best screening time for newborns with different delivery methods using AABR.Methods A total of 550 newborns who were born from August 1, 2016 to October 31, 2016 at our hospital participated in the study.AABR was used to accomplish the initial hearing screening.The newborns were divided into 2 groups according to the delivery methods.There were each 100 neonates born in vaginal during 0.05).There were 250 newborns in cesarean section, the pass rate of 24~48 h after birth group was significantly higher than that in 24 h group (83.00% vs 68.00%,x2=4.437, P=0.04<0.05), and significantly lower than that of 48~72 h group (94.00% vs 83.00%,x2=5.944, P=0.02<0.05).Conclusion Taking into account of hospitalization time, the screening time for the vaginal delivery newborn hearing screening can be advanced to 24~48 h after birth with the application of AABR, but not for the cesarean section group.

3.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1871-1874, 2016.
Article in Chinese | WPRIM | ID: wpr-508929

ABSTRACT

Objective To analyze the clinical and imaging characteristics of congenital sensorineural hearing loss (CSNHL)children combined with white matter (WM)lesions in order to provide evidence for clinical practice. Methods With referral to the Department of Pediatrics,Peking University First Hospital from November 201 1 to De-cember 201 5,documents of 78 patients of CSNHL combined with WMlesions were collected and analyzed for the clini-cal and imaging characteristics.Results Bilateral severe -profound hearing loss existed in all 78 cases,48.1 %(25 /52 cases)of the patients exhibited gross motor development delay,98.1 %(51 /52 cases)of them had normal cognition development.One hundred percent (61 /61 cases)of patients had abnormal language development.Infection occurring during pregnancy existed in 21 .2%(1 1 /52 cases)of the patients,the premature and smaller for the gestational age in-fants accounted for 28.9% (1 5 /52 cases).The bilateral multiple WMlesions from the brain MRI were in dot to flake sizes with sharp boundary,the intensity of T1 -weighted imaging decreased,T2 -weighted imaging and fluid attenuated inversion recovery increased.Eighty -two point one percent (64 /78 cases)of the patients were found to have the periventricular and subcortical WM involvement.The most frequently affected periventricular region was the posterior horn (91 .9%,68 /74 cases),followed by the anterior horn and temporal horn,and the least with the body involvement. The former three had a combined lesion tendency (55.4% -68.9%).There was an extensive involvement in the sub-cortical WMof parietal,frontal,temporal and occipital lobes respectively(73.5% -88.2%).Subcortical WM involve-ment of multiple lobes was common (accounted for 67.6% -77.9%).The enlargement of bilateral ventricles existed in 37.2%(29 /78 cases)of the patients and cystic changes in the subcortical WM of anterior temporal lobe could be found in 9.0% (7 /78 cases)patients.Calcification in 2 CT cases was reported.Corpus callosum and basal ganglia of all cases were normal.For cases with MRI scans more than once,WMlesions of 96.0%(24 /25 cases)patients became silent or self -restored.Conclusions The clinical presentations of CSNHL combined with WM lesions are mild,not paralleled with their multiple foci.It is considered as demyelination or a delay of myelination.Due to its benign course, it is probably not the contraindication for the cochlear implantation.

4.
China Oncology ; (12): 128-133, 2016.
Article in Chinese | WPRIM | ID: wpr-490086

ABSTRACT

Background and purpose:EPHA2 has been reported to enhance the proliferation of gastric cancer cells through promoting CyclinD1 expression and cell cycle progression. However, the underlying mechanism that EPHA2 promotes CyclinD1 expression and cell cycle progression is still poorly understood. Akt/mTOR signaling pathway has been reported to enhance the proliferation of gastric cancer cells by promoting CyclinD1 expression and cell cycle progression, and some studies have shown that EPHA2 can activate Akt/mTOR signaling pathway. Based on this, this study investigated whether EPHA2 promoted gastric cancer SGC-7901 cell proliferation through enhancing Akt/mTOR signaling pathway.Methods:Western blot was used to determine the effect of EPHA2 overexpression or knockdown on the phosphorylation of Akt and mTOR in SGC-7901 cells. SGC-7901-NC infected with control lentivi-rus and SGC-7901-EPHA2 cells with EPHA2 overexpression were treated with DMSO, MK2206 (an Akt inhibitor) and RAD001 (a mTOR inhibitor) for different time periods, respectively. Cell proliferation was detected using the CCK8 assay. Cell cycle was detected using lfow cytometry, and the expression of CyclinD1 was determined by Western blot. Results:Overexpression of EPHA2 enhanced Akt/mTOR signaling pathway in SGC-7901 cells, and silencing EPHA2 in SGC-7901 cells inhibited Akt/mTOR signaling pathway. MK2206 and RAD001 antagonized the promoting effect of EPHA2 on the proliferation, S-phase and CyclinD1 expression of SGC-7901 cells, respectively.Conclusion:EPHA2 promotes SGC-7901 cell proliferation through enhancing Akt/mTOR signaling pathway. Akt inhibitor or mTOR inhibi-tor could be an effective treatment strategy for gastric cancer patients overexpressing EPHA2.

5.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 1053-1058, 2015.
Article in Chinese | WPRIM | ID: wpr-747274

ABSTRACT

OBJECTIVE@#To investigate clinical application of head impulse test with video recording eye movements in the diagnosis of vertigo.@*METHOD@#The video head impulse test(vHIT) was used to measure the eye saccades and velocity gain in 95 patients with vertigo which were divided into two groups, peripheral vertigo (47 cases) and central vertigo(48 cases); the characteristics of eye saccades and velocity gain of six semicircular canals in different patients with vertigo were analyzed, and were compared between the two groups.@*RESULT@#The vHIT result in patients with peripheral vertigo: in 22 patients (23 affected ears) with Meniere's disease, 21 ears were abnormal (91. 3%); the vHIT results in 4 patients with vestibular schwannoma, 2 patients with vestibular neuritis, 5 patients with delayed endolymphatic hydrops, 6 patients with sudden hearing loss accompanied vertigo, and 8 patients with vestibular dysfunction, were abnormal with correct saccades and/or lower velocity gain of vHIT. The abnormal vHIT results were also found in 35 of 48 patients (72. 9%) with central vertigo, which including posterior cerebral circulation ischemia(7 patients), cerebral infarction/stroke(6 patients), and dizziness with vertigo(17 patients) and others(18 patients). Abnormal rate of vHIT in patients with peripheral vertigo was 95. 7% (45/47), which was significantly higher than that (72. 9%) in patients with central vertigo.@*CONCLUSION@#It is easy to perform the vHIT which without adverse reactions. We can record high-frequency characteristics of vestibular-ocular reflex among six semicircular canals through vHIT. The vHIT results which show the function of vestibular ocular reflex in different diseases with vertigo, can help discriminate peripheral vertigo from central vertigo, and it is a practical assessment method for vertigo.


Subject(s)
Humans , Dizziness , Endolymphatic Hydrops , Diagnosis , Head Impulse Test , Meniere Disease , Diagnosis , Neuroma, Acoustic , Diagnosis , Reflex, Vestibulo-Ocular , Saccades , Semicircular Canals , Vertigo , Diagnosis , Vestibular Neuronitis , Diagnosis , Video Recording
6.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 1020-1025, 2015.
Article in Chinese | WPRIM | ID: wpr-265554

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the replacement therapy of rPTH(1-84) (recombinant human parathyroid hormone (1-84)) to hypothyroidism in established rat model.</p><p><b>METHOD</b>Rat model of hypothyroidism was established by resecting parathyroids. A total of 30 rats with removal of parathyroids were divided into 6 groups randomly, 5 in each group, and applied respectively with saline injection (negative control group), calcitriol treatment (positive control group) and quadripartite PTH administration with dose of 20, 40, 80 and 160 µg/kg (experimental groups). Saline and rPTH(1-84) were injected subcutaneously daily. Calcitriol was gavaged once a day. Sham-operation was conducted in 5 rats of negative control group. To verify the authenticity of the rat model with hypothyroidism, the serum was insolated centrifugally from rat blood that was obtained from angular vein at specific time to measure calcium and phosphorus concentration. Urine in 12 hours was collected by metabolic cages and the calcium concentration was measured. After 10-week drug treatment, the experiment was terminated and bilateral femoral bone and L2-5 lumbar vertebra were removed from rats. Bone mineral density (BMD)of bilateral femoral bone and lumbar vertebra was analyzed by dual X-ray absorptiometry (DXA). The concentration of bone alkaline phosphatase (BALP) in serum was determined by radioimmunoassay.</p><p><b>RESULT</b>The rat model with hypothyroidism was obtained by excising parathyroid gland and was verified by monitoring calcium and phosphorus concentration subsequently. Administration of rPTH(1-84) in the dose of 80 or 160 µg/kg made serum calcium and phosphorus back to normal levels, with no significant difference between the doses (P>0.05). The BMD in each group of rats with rPTH(1-84) administration was increased significantly (P<0.05). The levels of urinary calcium and serum BALP in rats of maximum rPTH(1-84) injection group (160 µg/kg) were higher than those of normal control group (P<0.05). The rats treated with calcitriol had normal calcium levels and showed the increase of BMD and phosphorus concentration compared with normal control group (P<0.05). The amount of urinary calcium also exceeded the other groups (P<0.05), but no with significant difference in BMD of bilateral femoral bone and lumbar vertebra between negative control group and normal control group (P>0.05).</p><p><b>CONCLUSION</b>Calcium and phosphorus return to normal level by administration of rPTH(1-84) in the dose of 80 µg/kg or 160 µg/kg, with increase in BMD. Calcitriol can return the level of calcium to normal and increase BMD, but can not correspondingly decrease the phosphorus concentration and increase the excretion of calcium in urine.</p>


Subject(s)
Animals , Humans , Rats , Absorptiometry, Photon , Alkaline Phosphatase , Blood , Bone Density , Calcitriol , Calcium , Blood , Urine , Disease Models, Animal , Femur , Hormone Replacement Therapy , Hypothyroidism , Drug Therapy , Lumbar Vertebrae , Parathyroid Glands , General Surgery , Parathyroid Hormone , Therapeutic Uses , Phosphorus , Blood , Recombinant Proteins , Therapeutic Uses
7.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 429-432, 2015.
Article in Chinese | WPRIM | ID: wpr-747803

ABSTRACT

OBJECTIVE@#To evaluate the function of tubomanometry (TMM) in forcasting the progonosis of acute otitis media with effusion (OME).@*METHOD@#We used the technique of TMM to quantify the degree of eustachian tube (ET) dysfunction in 65 patients with OME. The opening of the ET and the transportation of gas into the middle ear were registered by a pressure sensor in the occluded outer ear after applying the stimulus of a controlled gas bolus into the nasopharynx during swallowing. Three excess pressure values were tested subsequently (30, 40, and 50 mbar). If tube opening was registered, the time of opening in relation to pressure applied was measured. The TMM calculated the opening latency index or index R. An R value of 1 indicated late opening of the tube occurring after the initial stimulus and was interpreted as suboptimal. Inability to calculate the index R value indicated that the tube was unable to actively open at all. The TMM results, were weighted as follows: no R with 0 points, R > 1 with 1 point and R < 1 with 2 points for the measurements at 30, 40, and 50 mbar, respectively. The points of these three tests were added so the ET score (ETS) ranges from 0 (worst value) to 6 (best value). According to the medical history, the patients were divided into two groups, chronic OME group (defined as positive control group), 30 cases with 38 ears; and acute OME group, 35 cases with 46 ears. The healthy ears of all patients were defined as normal control group, 46 cases with 46 ears. The same regular treatments, including classic medical treatments and intratympanic dexamethasone injections, were used to acute OME group in the following 1-2 months. On the basis of therapeutic effect, acute OME group was subdivided into valid group (26 cases with 33 ears) and invalid group (9 cases with 13 ears).@*RESULT@#The ETS of normal control group was 5.11 ± 1.32 while it was 1.08 ± 1.32 in positive control group. It was found marked differences between the two groups (P < 0.01). The ETS of both valid and invalid subgroup of actue OME group were significantly lower than normal control group (P < 0.01), but in valid subgroup it was significantly higher than positive control group (P < 0.01), and no marked difference was found between the invalid subgroup and positive control group. After treatments, a significant improvement of the ETS was found in both valid and invalid subgroup (P < 0.05) there was no marked difference between valid subgroup and normal control group. But in invalid subgroup it was still significantly lower than normal cohtrol group (P < 0. 01).@*CONCLUSION@#TMM could forecast the prognosis of acute OME. Patients with acute OME suffered from ET dysfunction of varied degrees. Those with high ETS could be cured by classic medical treatments and intratympanic dexamethasone injections. But those with poor ETS could not be cured in short period, tube insertion should be considered. If ETS could not be improved by ventilation tube placement, more active treatment, for example, balloon Eustachian tuboplasty (BET), should be used to prevent transforming into chronic OME.


Subject(s)
Humans , Acute Disease , Ear, Middle , Eustachian Tube , Injection, Intratympanic , Manometry , Middle Ear Ventilation , Otitis Media with Effusion , Diagnosis , Pressure , Prognosis
8.
Chinese Medical Journal ; (24): 2304-2309, 2014.
Article in English | WPRIM | ID: wpr-241677

ABSTRACT

<p><b>BACKGROUND</b>Hearing impairment has been reported to be common in patients with mitochondrial disorders, a group of diseases characterized by pleiomorphic clinical manifestations due to defects in oxidative phosphorylation of mitochondria. This study aimed to investigate the audiological characteristics in a large cohort of patients with mitochondrial disease.</p><p><b>METHODS</b>Comprehensive audiological evaluations, including pure tone audiometry, tympanometry, speech audiometry, otoacoustic emissions, electrocochleography and auditory brainstem evoked potentials, were performed in 73 Chinese patients with mitochondrial encephalomyopathy and with confirmed mitochondrial DNA (mtDNA) defects.</p><p><b>RESULTS</b>Among the patients, 71% had hearing impairment. However, the incidence rate and severity of hearing impairment were much less in the chronic progressive external ophthalmoplegia (CPEO) subtype than in the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged red fibers (MERRF) and Kearns-Sayre syndrome (KSS) subtypes. While most of our patients had a predominantly cochlea origin for the hearing deficit, five patients had an auditory neuropathy spectrum disorder and three patients had impairment of both cochlea and auditory cortex.</p><p><b>CONCLUSIONS</b>Various portions of the auditory system could be involved in patients with mitochondrial diseases, including cochlea, auditory nerve, auditory pathway and cortex. Hearing loss was more associated with multisystem involvement. Genotype, mutant load of mtDNA and other unknown factors could contribute to heterogeneity of hearing impairment in mitochondrial disease.</p>


Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Young Adult , Hearing Loss , Hearing Loss, Central , Mitochondrial Encephalomyopathies
9.
Chinese Journal of Otorhinolaryngology Head and Neck Surgery ; (12): 902-907, 2014.
Article in Chinese | WPRIM | ID: wpr-248030

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical audiological characteristics in Chinese Alport syndrome, and investigate the relationship between the genotypes of Alport syndrome and hearing phenotype.</p><p><b>METHODS</b>The clinical hearing data of 92 cases diagnosed as Alport syndrome from 2008 August to 2013 August were reviewed and analyzed. All coding exons of COL4A3 and COL4A5 genes were PCR-amplified and sequenced from genomic DNA, or mRNA of COL4A5 gene was RT-PCR-amplified and sequenced from skin fibroblast in 17 cases.</p><p><b>RESULTS</b>Eighty-seven out of 92 cases were found with X-linked dominant inheritance (XLAS); 5 cases with autosomal recessive (ARAS); 44 cases had normal hearing, but 14 young cases had abnormal OAE; 48 cases (52.2%, 35 male, 13 female) had sensorineural hearing loss. A total of 44 cases with XLAS had hearing loss (49.4%), wherein the incidence of hearing impairment was 55.0% in male XLAS, and 37.0% in female XLAS. Mild and moderate hearing loss were found in XLAS. Audiometric curves including groove type (21 cases), descending type (13 cases), flat type (10 cases), high frequency drop type (3 cases) and ascending type (1 case) were found in AS. Sixteen mutations of COL4A3, COL4A5 gene were found in 17 cases with Alport syndrome, including severe mutation in 8 cases with moderate hearing impairment.</p><p><b>CONCLUSIONS</b>Mild and moderate hearing impairment, and groove type of audiometric curve are mainly found in Chinese Alport syndrome, which is different from Alport syndrome in western countries. OAE in the early diagnosis of hearing loss is important. Hearing phenotype is related certainly with genotype.</p>


Subject(s)
Female , Humans , Male , Asian People , Base Sequence , Collagen Type IV , DNA , Deafness , Exons , Fibroblasts , Genotype , Mutation , Nephritis, Hereditary , Diagnosis , Phenotype , Polymerase Chain Reaction , RNA, Messenger
10.
Journal of Audiology and Speech Pathology ; (6): 475-477, 2014.
Article in Chinese | WPRIM | ID: wpr-456819

ABSTRACT

Objective To study the characteristics of auditory brainstem responses with different forward - masking intervals in newborns with normal hearing ,and to find out the most efficient interval .Methods Auditory evoked brainstem responses were recorded from 30 newborns(60 ears) ,with forward - masking intervals of 4 ms ,8 ms ,16 ms ,32 ms ,and unmasked as control .The ABR data were statistically analyzed with SPSS 13 .0 .Results With forward - masking intervals ,all waves Ⅰ ,Ⅲ ,Ⅴ latencies and Ⅰ - Ⅴ ,Ⅰ - Ⅲ ,Ⅲ - Ⅴ interpeak latencies were significantly (P< 0 .01) prolonged compared with those of in the unmasked ,except wave Ⅲ and Ⅰ - Ⅲ interpeak latencies with 4 ms forward - masking intervals .The waves from 8 ms interval were the most prolonged .Conclusion Forward masking increases human newborn ABR latencies and interpeak latencies .The interval time influenced the effect ,and 8 ms interval is the most efficient .

11.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 1139-1142, 2013.
Article in Chinese | WPRIM | ID: wpr-747189

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics, imaging features, pathological findings, treatment and prognosis of the extrapleural solitary fibrous tumor (EPSFT) in nose, and then to improve the quality of diagnosis and treatment of EPSFT.@*METHOD@#Clinical data of two patients with EPSFT were collected in recent 2 years. All the information, including clinical symptoms, imaging characteristics, blood routine, serum biochemical, treatment options, pathological immunohistochemical findings, and following-up results were reported and analyzed, and the clinical features of EPSFT in the nose were summarized with review of the literature.@*RESULT@#(1) The main clinical characteristics were nasal obstructive and epistaxis. (2)There were no imaging differences essentially between EPSFT and other tumors in nasal cavity. In terms of enhancement CT scanning, the image manifestations of EPSET were similar to that of hemangioma to a certain degree in nasal cavity. (3) Routine blood and serum biochemical test were normal in the patients with EPSFT in the nose. (4)Confirmed diagnosis mainly depended on pathological and immunohistochemical findings. (5) These two patients underwent surgical treatment, and the tumors were en bloc resected, and were in full recovery. Follow-up time is 2 years in one case and the other one is 1 year. No recurrence or metastasis were found in these two patients.@*CONCLUSION@#DSA and vascular embolism is recommended before surgical treatment in some patients. En bloc resection is the preferred treatment option with definite curative effect for the patients with EPSFT in nose, and the prognosis is favorable.


Subject(s)
Adult , Female , Humans , Middle Aged , Nose Neoplasms , Solitary Fibrous Tumors
12.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 691-694, 2013.
Article in Chinese | WPRIM | ID: wpr-747031

ABSTRACT

OBJECTIVE@#We aimed to identify the different courses of first branchial cleft anomalies and to discuss the management and classification of these anomalies.@*METHOD@#Twenty-four patients with first branchial cleft anomalies were reviewed. The courses of first branchial cleft anomalies and their corresponding managements were analyzed. Each case was classified according to Olsen's criteria and Works criteria.@*RESULT@#According to Olsen's criteria, 3 types of first branchial cleft anomalies are identified: cysts (n = 4), sinuses (n = 13), and fistulas (n = 7). The internal opening was in the external auditory meatus in 16 cases. Two fistulas were parallel to the external auditory canal and the Eustachian tube, with the internal openings on the Eustachian tube. Fourteen cases had close relations to the parotid gland and dissection of the facial nerve had to be done in the operation. Temporary weakness of the mandibular branch of facial nerve occurred in 2 cases. Salivary fistula of the parotid gland occurred in one patient, which was managed by pressure dressing for two weeks. Canal stenosis occurred in one patient, who underwent canalplasty after three months. The presence of squamous epithelium was reported in all cases, adnexal skin structures in 6 cases, and cartilage in 14 cases. The specimens of the fistula which extended to the nasopharynx were reported as tracts lined with squamous epithelium (the external part) and ciliated columnar epithelium (the internal part). According to Work's criteria, 9 cases were classified as Type I lesions, 13 cases were classified as Type II lesions, and two special cases could not be classified. The average follow-up was 83 months (ranging from 12 to 152 months). No recurrence was found.@*CONCLUSION@#First branchial cleft anomalies have high variability in the courses. If a patient is suspected to have first branchial anomalies, the external auditory canal must be examined for the internal opening. CT should be done to understand the extension of the lesion. For cases without internal openings in the external auditory canal, CT fistulography should be done to demonstrate the courses, followed by corresponding treatment. Two special cases might be classified as a new type of lesions.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young Adult , Branchial Region , Congenital Abnormalities , Craniofacial Abnormalities , Classification , Diagnosis , Therapeutics , Head and Neck Neoplasms , Classification , Diagnosis , Therapeutics , Pharyngeal Diseases , Classification , Diagnosis , Therapeutics , Retrospective Studies
13.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 1080-1083, 2013.
Article in Chinese | WPRIM | ID: wpr-749215

ABSTRACT

OBJECTIVE@#To analyze the clinical manifestations of three cases of cervical necrotizing fasciitis caused by klebsiella pneumoniae and to analyze the published articles concerning the relationship between invasive klebsiella syndrome and necrotizing fasciitis in Chinese Mainland.@*METHOD@#We have retrospectively analyzed three cases of cervical necrotizing fasciitis caused by klebsiella pneumoniae treated in our department between 2003 and 2012. We also reviewed the Chinese-language scientific literature included in the WanFang data by searching with the following key words: necrotizing fasciitis, klebsiella pneumoniae and liver abscess.@*RESULT@#These patients recovered uneventfully without obvious complications or disseminated infection foci. Sporadic cases of invasive klebsiella syndrome were reported without necrotizing fasciitis involvement in Chinese Mainland.@*CONCLUSION@#Cervical necrotizing fasciitis caused by klebsiella pneumoniae may give rise to disseminated infection but there has been no such case report in Chinese Mainland.


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Fasciitis, Necrotizing , Klebsiella Infections , Klebsiella pneumoniae , Neck , Retrospective Studies
14.
Chinese Journal of Neurology ; (12): 243-246, 2013.
Article in Chinese | WPRIM | ID: wpr-431273

ABSTRACT

Objective To report the clinical and genetic features in a family with Mohr-Tranebjaerg syndrome (MTS).Methods After collecting clinical data of the family,visual and auditory evoked potentials,pure tone audiometry,transient evoked otoacoustic emissions and distortion product otoacoustic emissions were carried out in proband (Ⅲ5).The translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) gene was sequenced in proband,Ⅰ2,Ⅱ 4 and Ⅱ 6.Results Ⅲ5,a 15-year-old boy presented with deafness,slurred speech,difficulty in finger extension and dystonia gradually since 2 years old.Ⅲ1,Ⅲ 2 and Ⅲ 3 presented with deafness at the age of 2.Ⅰ 2,Ⅱ 2,Ⅱ 4 and Ⅱ 6 showed mild decreased visual acuity at the age of 12.Visual evoked potentials revealed prolonged P100 latency in both eyes.Pure tone audiometry revealed severe sensorineural hearing loss.The auditory evoked potentials showed no wave in the bilateral ears.Otoacoustic emissions were not elicited bilaterally.A novel c.133-2delA mutation in TIMM8A gene was identified in Ⅲ 5,Ⅰ2,Ⅱ 4 and Ⅱ 6.Conclusions We confirm the MTS caused by a novel c.133-2delA mutation in TIMM8A gene.Except for the deafness,the development of other symptoms of the disease vary obviously from case to case in the same family.The female carriers with mild lesion of optic nerves.

15.
Chinese Journal of Anesthesiology ; (12): 257-261, 2010.
Article in Chinese | WPRIM | ID: wpr-390044

ABSTRACT

Objective To evaluate and compare the histamine-releasing,potencies of cis-atracurium and atracurium during induction of general anesthesia.Methods Forty-five ASA Ⅰ or Ⅱ patients aged 16-71 yr undergoing elective surgery under general anesthesia were randomly divided into 3 groups (n=15 each):group Ⅰcis-atracurium (stored at 4-8℃)(group CIS1);groupⅡcis-atracurium (stored at room temperature)(group CIS2) and group Ⅲ atracurium (stored at 4-8℃)(group ATR).Anesthesia Was induced with TCI of propofol (Cp 3 μg/ml) and remifentanil (Ce 3-5 ng/ml).A bolus of cis-atracurium 0.15 mg/kg or atracurium 0.75 mg/kg Was given iv over 5-10 s as soon as the patients lost consciousness.Neuro-muscular block was monitored with TOF-Watch(R) SX(Organon,the Netherlands).Single stimulation (0.1 Hz) was apphed to the ulna nerve at wrist.The maximal degree of N-M block,onset time,duration of action and recovery index were recorded.The patients were intubated and mechanically ventilated when N-M block reached the maximal degree.The intubation condition Was evaluated.MAP and HR were continuously monitored.Changes in skin were scored (0=no change,Ⅰ=flushed>120 s,Ⅱ=erytbema,Ⅲ=urticaria).Blood samples were obtained before (T0,baseline),at 2 min after induction of anesthesia with TCI of propofol and remifentanil (T1) and 2 and 5 min after CIS/ATR administration (T2,T3) for determination of plasma histamine concentration using enzymatically amplified immunoassay.Results The onset time was significantly longer and the duration of action was significantly shorter in group CIS1 than in group ATR.The maximal degree of N-M block was 100%and the intubation condition was excellent in group CIS1 and ATR.There wag no significant difference in the recovery index between group CIS1 and ATR.The onset time was significantly longer and duration of action shorter in group CIS2 than in group CIS1.There was no significant difference in recovery index between group CIS1 and CIS2.There was no significant change in plasma histamine concentration at T1-3 as compared with the baseline at T0 in group CIS1 but plasma histamine concentration was significantly increased at T2,3 in group ATR.MAP was significantly decreased after induction of anesthesia with propofol and remifentanil,but CIS and ATR did not significantly change MAP.Conclusion The onset time is longer and duration of action is shorter after cis-atracurium than afar atracurium.The N-M block induced by cis-atracurium is significantly attenuated if stored at the room temperature.Cis-atracurium does not cause histamine release.

16.
Chinese Journal of Anesthesiology ; (12): 233-235, 2009.
Article in Chinese | WPRIM | ID: wpr-395265

ABSTRACT

Objective To investigate the effects of repeated inhalation of sevoflurane on cognitive function in aged rats. Methods Twenty-four Wistar rats of beth sexes aged 18 months weighing 270-450 g were randomly divided into 3 groups(n=8 each):control group(C),2%aevoflurane group(S1)and 3% sevoflurane group (S2).Group C inhaled oxygen(2.5 L/min)and nitrogen(6L/min)only, while group S1 and S2 inhaled 2%and 3%sevonurane in oxygen(2.5 L/min)and nitrogen(6 L/min)100 min/d for 5 d respecfivelv. The Morris watemaze test was performed once a day for 6 consecutive clays after the last inhalation(T1-6).The swimming time and distance at T1-5 and probe time and swimming distance in the fourth quadrant at T6 were recorded. The aninlala were killed within 60 min after the last test and the hippecampus were immediately removed for determination ofthe expression of NMDAR, NRI and NR2B mRNA using RT-PCR.Results The swimming time and disl .ance were significantly longer at T1,and the probe time in the fourth quadrant shorter and expression of NMDAR mRNA hisher at T6 in group s2 than in group C(P<0.05).Conclusion Repeated inhalation of 2% sevoflurane can not induce cognitive disordel-,while 3%sevoflurane Call induce transient cognitive decline in aged rats.

17.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (24): 694-696, 2007.
Article in Chinese | WPRIM | ID: wpr-748361

ABSTRACT

OBJECTIVE@#To explore the causes, clinical features, diagnosis and treatment of cervical extensive necrotizing fasciitis, a rare clinical occurrence, and to improve the clinical recognition and appreciation of it.@*METHOD@#Two cases of cervical extensive necrotizing fasciitis were studied and relevant literatures were reviewed. The causes, clinical manifestation, experience of diagnosis and treatment were summarized.@*RESULT@#One of two cases was secondary to foreign body of hypopharynx, and the other with unknown cause. Apathy, crepitation and diffuse swelling and rubor following with abscess formation on the neck are main characteristics. Mixed synergistic infection was confirmed by drainage culturing. All two cases were treated actively by large dosage and effective broad spectrum antibiotics, and sustaining therapy and surgical treatment, including local incision and drainage, aggressive surgical debridement and tracheotomy.@*CONCLUSION@#Cervical extensive necrotizing fasciitis is a potentially life-threatening soft tissue infection. The keys of successful treatment were early diagnosis and surgical intervention. Rational antibiotics application and systemic supporting therapeutics were also recommended.


Subject(s)
Adult , Aged , Female , Humans , Male , Fasciitis, Necrotizing , Diagnosis , Therapeutics , Neck , Pathology
18.
Experimental & Molecular Medicine ; : 170-175, 2007.
Article in English | WPRIM | ID: wpr-90616

ABSTRACT

The aims of this study were to evaluate the expression of enhanced green fluorescent protein (EGFP) driven by 6 different promoters, including cytomegalovirus IE enhancer and chicken beta-actin promoter (CAG), cytomegalovirus promoter (CMV), neuron-specific enolase promoter (NSE), myosin 7A promoter (Myo), elongation factor 1alpha promoter (EF-1alpha), and Rous sarcoma virus promoter (RSV), and assess the dose response of CAG promoter to transgene expression in the cochlea. Serotype 1 adeno-associated virus (AAV1) vectors with various constructs were transduced into the cochleae, and the level of EGFP expression was examined. We found the highest EGFP expression in the inner hair cells and other cochlear cells when CAG promoter was used. The CMV and NSE promoter drove the higher EGFP expression, but only a marginal activity was observed in EF-1alpha promoter driven constructs. RSV promoter failed to driven the EGFP expression. Myo promoter driven EGFP was exclusively expressed in the inner hair cells of the cochlea. When driven by CAG promoter, reporter gene expression was detected in inner hair cells at a dose as low as 3 x 10(7) genome copies, and continued to increase in a dose- dependent manner. Our data showed that individual promoter has different ability to drive reporter gene expression in the cochlear cells. Our results might provide important information with regard to the role of promoters in regulating transgene expression and for the proper design of vectors for gene expression and gene therapy.


Subject(s)
Animals , Female , Humans , Mice , Cochlea/cytology , Dependovirus/genetics , Dose-Response Relationship, Drug , Genetic Vectors/genetics , Green Fluorescent Proteins/metabolism , Mice, Inbred C57BL , Promoter Regions, Genetic/genetics , Transgenes
19.
Chinese Archives of Otolaryngology-Head and Neck Surgery ; (12)2006.
Article in Chinese | WPRIM | ID: wpr-534412

ABSTRACT

OBJECTIVE To investigate the expression and significance of Fas, FasL and FADD in laryngeal carcinoma. METHODS Immunohistochemical method was used to examine the expression of Fas, FasL and FADD in laryngeal carcinoma specimen and adjacent normal tissues. RESULTS The positive rates of Fas and FADD in laryngeal carcinoma tissue were significantly lower than that in adjacent normal tissue, while FasL in laryngeal carcinoma tissue was higher than that in adjacent normal tissue(P

20.
Chinese Journal of Orthopaedics ; (12)2001.
Article in Chinese | WPRIM | ID: wpr-536681

ABSTRACT

Objective To investigate the effects of medullary reaming on respiratory and circulatory system in dog model during total hip replacement. Methods Twelve mongrels were randomly divided into two groups. In control group, femoral necks were cut while femoral canals were not disturbed. In experimental group, femoral canals were reamed with femoral rasps as done in total hip replacement. The changes of hemodynamics and pulmonary function were monitored during perioperative period. The postmortem pulmonary tissues were studied by pathological examination. Results No fat embolus was found in any lung sections of control group. Meanwhile, pulmonary fat emboli were found in all of experimental group. After fat embolism happened, cardiopulmonary effects included increased pulmonary artery pressure, pulmonary shunt and pulmonary vascular resistance accompanying a decrease in partial pressure of oxygen and cardiac output. There is statistically significant difference in response between the two groups. Conclusion The present study showed that embolic events and intraoperative pulmonary impairment are common during reaming of femoral medullary canal in total hip replacements. Further research can be made with this model in order to reduce the risk of fat embolism syndrome.

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