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<p><b>BACKGROUND</b>Bilateral sudden sensorineural hearing loss (BSSHL) is rare and assumed to be a different clinical entity compared to unilateral SSHL (USSHL). This study examined the differences between the idiopathic BSSHL and USSHL.</p><p><b>METHODS</b>Forty-six sequential BSSHL patients (Se-BSSHL) and 68 simultaneous BSSHL (Si-BSSHL) were consecutively admitted between June 2008 and December 2015. Two sets of patients served as control groups: (1) USSHL patients with healthy contralateral ear and (2) USSHL patients with contralateral preexisting hearing loss (USSHLwCHL). We retrospectively analyzed differences among four cohorts using analysis of variance, Kruskal-Wallis test, Welch's t-test, and Chi-square test as appropriate before and after propensity score matching (PSM) based on age, gender, and body mass index (BMI).</p><p><b>RESULTS</b>The prevalence of idiopathic BSSHL was 8.6% (114/1329) among the total SSHL patients. In the total cohort, USSHL patients tended to be younger, female, and tended to have lower BMI, renal parameters, and total cholesterol in addition to higher high-density lipoprotein compared to the other three groups. Most routine blood indicators, some coagulation markers, and immunoglobulin M (H = 13.4, P = 0.004) were significantly different among the study groups. After PSM, the major significant differences were found in audiometric characteristics. Si-BSSHL and Se-BSSHL patients demonstrated similar hearing thresholds as USSHL but were significantly better than the USSHLwCHL patients across most frequencies before and after treatment (H = 30.0, P < 0.001 for initial hearing and H = 12.0, P = 0.007 for final hearing). Moreover, the BSSHL patients showed different hearing loss distribution patterns (more descending type, χ2 = 33.8, P = 0.001) with less hearing gain (H = 17.5, P < 0.001) compared to the USSHL patients.</p><p><b>CONCLUSIONS</b>Idiopathic BSSHL is a relatively rare subtype of SSHL with a higher rate of descending audiogram type and inferior hearing outcome rather than being classified as a completely different disease entity compared to USSHL.</p>
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<p><b>BACKGROUND</b>Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases.</p><p><b>METHODS</b>Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided.</p><p><b>RESULTS</b>In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations.</p><p><b>CONCLUSIONS</b>This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.</p>
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Enfant , Femelle , Humains , Mâle , Facteur de transcription GATA-3 , Génétique , Génotype , Perte d'audition , Génétique , Surdité neurosensorielle , Génétique , Séquençage nucléotidique à haut débit , Hypoparathyroïdie , Génétique , Mutation , Génétique , Néphrose , Génétique , PedigreeRésumé
<p><b>BACKGROUND</b>The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family.</p><p><b>METHODS</b>A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomography scan were performed for each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products of the samples. Moreover, 834 controls with normal hearing were also tested.</p><p><b>RESULTS</b>The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation (c.499C>T) was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with hearing loss in this family. No mutation of POU3F4 gene was found in 834 controls.</p><p><b>CONCLUSIONS</b>A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.</p>
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Enfant , Femelle , Humains , Mâle , Asiatiques , Surdité , Génétique , Prédisposition génétique à une maladie , Perte d'audition , Génétique , Mutation , Génétique , Facteurs de transcription à domaine POU , Génétique , PedigreeRésumé
Objective To analyze the quality of life status and its influencing factors of drug addicts with methadone maintenance treatment (MMT) in Wenzhou, in order to provide a basis for developing health service measures to improve their quality of life. Methods A total of 199 drug addicts with MMT in Wenzhou were investigated by the Quality of Life for Drug Addicts (QOL-DA) and Self-made questionnaire, influencing factors on quality of life were analyzed by multiple linear regression analysis. Results Most of 199 drug addicts with MMT were male, middle aged, local residents, lower educational level, and unemployed. Most of them used traditional drugs such as heroin by intravenous injection, and the proportion of who continually used drugs more than 10 years was 78.39%. The majority of them had abandoned drug habits many times. The proportions of abandoning drug habits more than 12 months this time and self-reported involving drug abuse related diseases were 77.39%, 61.81%, respectively. Scores of physical function and hunger sensory (PH), psychological spirit and self-esteem (PS), withdrawal syndrome and toxic effects (ST), social support and operational capability (SO) were 32.96±6.75, 33.03±5.96, 47.61±8.51 and 38.42±6.86, respectively. The total score of QOL-DA was 152.01±23.55. Marital status, occupation, age of first using drug, time of drug use and drug abuse related diseases were its influencing factors. Conclusion The quality of life of drug addicts with MMT is lower. Comprehensive health service measures for influencing factors should be taken to improve their quality of life.
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<p><b>BACKGROUND</b>The prevalence of sudden sensorineural hearing loss in children (CSSNHL) is consistently increasing. However, the pathology and prognosis of CSSNHL are still poorly understood. This retrospective study evaluated clinical characteristics and possible associated factors of CSSNHL.</p><p><b>METHODS</b>One hundred and thirty-six CSSNHL patients treated in Department of Otolaryngology-Head and Neck Surgery and Institute of Otolaryngology at Chinese PLA General Hospital between July 2008 and August 2015 were included in this study. These patients were analyzed for clinical characteristics, audiological characteristics, laboratory examinations, and prognostic factors.</p><p><b>RESULTS</b>Among the 136 patients (151 ears), 121 patients (121 ears, 80.1%) were diagnosed with unilaterally CSSNHL, and 15 patients (30 ears, 19.9%) with bilateral CSSNHL. The complete recovery rate of CSSNHL was 9.3%, and the overall recovery rate was 37.7%. We found that initial degree of hearing loss, onset of treatment, tinnitus, the ascending type audiogram, gender, side of hearing loss, the recorded auditory brainstem response (ABR), and distortion product otoacoustic emissions (DPOAEs) had prognostic significance. Age, ear fullness, and vertigo had no significant correlation with recovery. Furthermore, the relevant blood tests showed 30.8% of the children had abnormal white blood cell (WBC) counts, 22.1% had elevated homocysteine levels, 65.8% had high alkaline phosphatase (ALP), 33.8% had high IgE antibody levels, and 86.1% had positive cytomegalovirus (CMV) IgG antibodies.</p><p><b>CONCLUSIONS</b>CSSNHL commonly occurs unilaterally and results in severe hearing loss. Initial severe hearing loss and bilateral hearing loss are negative prognostic factors for hearing recovery, while positive prognostic factors include tinnitus, gender, the ascending type audiogram, early treatment, identifiable ABR waves, and DPOAEs. Age, vertigo, and ear fullness are not correlated with the recovery. Some serologic indicators, including the level of WBC, platelet, homocysteine, ALP, positive CMV IgG antibody, fibrinogen, and some immunologic indicators, are closely related to CSSNHL.</p>
Sujets)
Adolescent , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Potentiels évoqués auditifs du tronc cérébral , Surdité neurosensorielle , Sang , Émissions otoacoustiques spontanées , Études rétrospectivesRésumé
<p><b>BACKGROUND</b>There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI). Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.</p><p><b>METHODS</b>To decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years.</p><p><b>RESULTS</b>We identified a pathogenic missense mutation, c. 2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL). The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.</p><p><b>CONCLUSIONS</b>We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.</p>
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Adulte , Sujet âgé , Femelle , Humains , Mâle , Adulte d'âge moyen , Jeune adulte , Asiatiques , Connexines , Génétique , Exome , Génétique , Liaison génétique , Génétique , Haplotypes , Génétique , Surdité neurosensorielle , Génétique , Mutation , Génétique , Pedigree , Protéine-2 de la zonula occludens , GénétiqueRésumé
Objective To study the risk factors of hematoma enlargement in acute hypertensive cerebral hemorrhage (AHCH) patients within 24 hours after onset. Methods A retrospective review of clinical data of consecutive patients with AHCH who met the inclusion and exclusion criteria and admitted from Mar. 2008 to Mar. 2013 was performed. The patients' data included patients' demography, previous medical history, clinical features, findings of CT, results of laboratory examinations, and the use of traditional medicines for promoting blood circulation. Patients were divided into hematoma enlargement group and non-hematoma-enlargement group. Univariate analysis was performed on the above factors first, and then with the statistically significant factors used as independent variables, hematoma growth as dependent variables, logistic regression analysis was performed to investigate the possible independent relevant factors for the early enlargement of hematoma in AHCH patients. The risk factors and enlargement of hematoma served as independent variables, the data of mRS scale obtained from 3-month follow up as dependent variables, logistic regression was then performed to investigate the influence of acute hematoma enlargement during 3-month follow up in AHCH patients. mRS 0-2 was assigned as good recovery, and mRS 3-6 as serious disability or death. The inspection level was ct=0.05. Results Among 256 patients, 43 (16.8%) were found to have hematoma enlargement. Univariate analysis showed the risk factors led to hematoma enlargement in AHCH patients were gender (male), Glasgow coma scale at admission, NIHSS (National Institute of Health Stroke Scale) at admission, course of disease, and liver function (AST). However, only two factors, namely gender (male) and course of disease, were the independent risk factors of the hematoma enlargement in AHCH patients according to the multivariate regression analysis. In addition, logistic regression revealed that the hematoma enlargement was the independent risk factor influencing the final outcome of AHCH patients, and the hematoma volume, NIHSS, and course of disease were the independent risk factors influencing the outcome of 3 month follow up. ConclusionsA male AHCH patient with shorter duration from onset to admission (within 2 hours) should alert attending physician there would be a risk of hematoma expansion. Larger amount of bleeding, enlarged hematoma, higher NIHSS and shorter duration from onset to admission herald a poor prognosis.
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<p><b>OBJECTIVE</b>To investigate the clinical materials of sudden sensorineural hearing loss (SSNHL) in different ages of patients, and explore their clinical characteristics and prognosis.</p><p><b>METHODS</b>A retrospective review was conducted by the clinical symptoms, predisposing factors and prognosis in SSNHL patients with different ages in the past two years (from 2008 to 2010). All patients were divided into three groups according to age, including Group 1 (0-18 years old), Group 2 (19-59 years old), and Group 3 (over 60 years old).</p><p><b>RESULTS</b>Part of patients (28.1%) had a clear history of virus infection in Group 1. Some patients (18.7%) had obvious history of emotional fluctuations or fatigue before the onset of SSNHL. Three groups of patients with "aural fullness" symptom accounted for 3.1%, 41.3% and 29.4% respectively. The proportions of patients with profound hearing loss in three groups were 62.5%, 40.0% and 33.3% respectively. Most patients improved hearing level during systemic internal medicine treatment. However, many patients (68.8%) in Group 1 showed poor therapeutic effect.</p><p><b>CONCLUSIONS</b>SSNHL in different age stages has different clinical features. We can improve the personalized treatment program to this disease through the classification and grading treatment.</p>
Sujets)
Adolescent , Adulte , Enfant , Enfant d'âge préscolaire , Humains , Nourrisson , Nouveau-né , Adulte d'âge moyen , Jeune adulte , Surdité neurosensorielle , Perte auditive soudaine , Diagnostic , Épidémiologie , Pronostic , Études rétrospectivesRésumé
<p><b>BACKGROUND</b>Several difficulties can arise from wide-neck cerebral aneurysms when treated with endovascular embolization. We aimed to investigate the effect of endovascular treatment of intracranial aneurysms using coil embolization plus an Enterprise stent.</p><p><b>METHODS</b>Forty patients were treated with coil embolization plus an Enterprise stent between December 2008 and June 2010.</p><p><b>RESULTS</b>The mortality of patients was 0. All stents were successfully implanted without any surgery-related complication.</p><p><b>CONCLUSION</b>The Enterprise stent has some advantages to be selected.</p>
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Adulte , Humains , Mâle , Prothèse vasculaire , Embolisation thérapeutique , Méthodes , Anévrysme intracrânien , Chirurgie générale , Thérapeutique , EndoprothèsesRésumé
<p><b>OBJECTIVE</b>To investigate the effects of GnRH analogues GnRHa and GnRHant on the MAPK pathway in rat Leydig cells.</p><p><b>METHODS</b>Rat Leydig cells were primarily cultured for 24 hours in vitro and serum-starved for 2 hours, followed by treatment with GnRHa (10(-7) mol/L) or GnRHant (10(-6) mol/L) for 0, 5, 15, 30, 60 and 90 minutes, with the 0 min group as the control. Then the protein levels of phosphorylated ERK (p-ERK) and phosphorylated p38 (p-p38) were detected by Western blot, and that of p-ERK determined by the same means after co-incubation of GnRHa or GnRHant with the PKC inhibitor GF109203X at 1, 5, 10 and 20 micromol/L.</p><p><b>RESULTS</b>After stimulation of the Leydig cells with GnRHa or GnRHant for different times, the protein level of p-p38 showed no significant difference from that of the control group (P > 0.05). Then the Leydig cells were treated with GF109203X at different concentrations for 20 minutes and with addition of GnRHa for another 10 minutes. The level of p-ERK was significantly decreased (P < 0.05) by GF109203X at 10 and 20 micromol/L. Compared with the control, the p-ERK expression was increased by 65% at 15 minutes (P < 0.05) in the GnRHant stimulation group, by 81% (to the peak) at 30 minutes (P < 0.05), began to fall at 60 minutes, and returned to the base level at 90 minutes. The p-ERK level exhibited no significant difference from that of the control (P > 0.05) after treatment of the Leydig cells with different concentrations of GF109203X for 20 minutes and then with GnRHant for 30 minutes.</p><p><b>CONCLUSION</b>The ERK MAPK activation induced by GnRHa depends on the PKC pathway, but not that induced by GnRHant. The p-38 MAPK pathway may not be involved in the effect of GnRH analogues on rat Leydig cells.</p>
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Animaux , Mâle , Rats , Cellules cultivées , Hormone de libération des gonadotrophines , Pharmacologie , Cellules de Leydig , Métabolisme , Système de signalisation des MAP kinases , Rat Sprague-DawleyRésumé
<p><b>OBJECTIVE</b>To study the role of HLB-1 in regulating the organization and function of neuromuscular junctions in nematode Caenorhabditis elegans.</p><p><b>METHODS</b>To evaluate the functions of HLB-1 in regulating the organization and function of neuromuscular junctions, effects of hlb-1 mutation on the synaptic structures were revealed by uncovering the expression patterns of SNB-1::GFP and UNC-49::GFP, and pharmacologic assays with aldicarb and levamisole were also used to test the synaptic functions. Further rescue and mosaic analysis confirmed HLB-1's role in regulating the organization and function of neuromuscular junctions.</p><p><b>RESULTS</b>Loss of HLB-1 function did not result in defects in neuronal outgrowth or neuronal loss, but caused obvious defects of SNB-1::GFP and UNC-49::GFP puncta localization, suggesting the altered presynaptic and postsynaptic structures. The mutant animals exhibited severe defects in locomotion behaviors and altered responses to an inhibitor of acetylcholinesterase and a cholinergic agonist, indicating the altered presynaptic and postsynaptic functions. Rescue and mosaic analysis experiments suggested that HLB-1 regulated synaptic functions in a cell nonautonomously way. Moreover, HLB-1 expression was not required for the presynaptic active zone morphology. Genetic evidence further demonstrated that hlb-1 acted in a parallel pathway with syd-2 to regulate the synaptic functions.</p><p><b>CONCLUSION</b>HLB-1 appeared as a new regulator for the organization and function of neuromuscular junctions in C. elegans.</p>
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Animaux , Facteurs âges , Motifs d'acides aminés , Physiologie , Analyse de variance , Animal génétiquement modifié , Animaux nouveau-nés , Comportement animal , Physiologie , Caenorhabditis elegans , Protéines de Caenorhabditis elegans , Génétique , Métabolisme , Physiologie , Protéines de transport , Métabolisme , Molécules d'adhérence cellulaire , Génétique , Physiologie , Protéines à fluorescence verte , Génétique , Locomotion , Génétique , Mutation , Physiologie , Jonction neuromusculaire , Génétique , Physiologie , Phosphoprotéines , Génétique , PhysiologieRésumé
<p><b>OBJECTIVE</b>To investigate the genetic etiologies in the 0- 3-years-old infants with hearing loss and to analyze the interaction between genetics and environmental factors.</p><p><b>METHODS</b>Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations.</p><p><b>RESULTS</b>Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory neuropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth (65.4%, 85/130), while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two cases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene (32.3%), but 14 infants found the mutations in GJB2 gene (4.6%), and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies.</p><p><b>CONCLUSIONS</b>In our studies, about 36.9% infants hearing loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of hearing loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.</p>
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Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Mâle , Connexine-26 , Connexines , Génétique , ADN mitochondrial , Génétique , Dépistage génétique , Perte d'audition , Diagnostic , Génétique , Tests auditifs , Protéines de transport membranaire , Génétique , ARN ribosomique , GénétiqueRésumé
<p><b>OBJECTIVE</b>To study the possibly transferable properties of multi-biological toxicities caused by aluminium exposure from exposed animals to their progeny.</p><p><b>METHODS</b>Multi-biological toxicities in aluminium (2.5 micromol/L, 75 micromol/L, and 200 micromol/L) exposed animals and their progeny were analyzed by using model organism Caenorhabditis elegans. Endpoints of lifespan, development, reproduction, locomotion behavior and behavioral plasticity were selected for the assay of multiple toxicities and their transfer properties. Four groups of experiments were performed for each endpoint assay. Twenty animals were used for assay of lifespan, development, reproduction and locomotion behaviors, and 100 animals were used for assay of behavioral plasticity in each group experiment. The data were performed for statistical analysis using SPSS 13.0 software.</p><p><b>RESULTS</b>Our data suggest that the aluminium exposure could result in multi-biological defects of phenotypes and behaviors. As compared to those average survival days, 24 d, body size, (1.30 +/- 0.05) mm; brood size, (278 +/- 20); generation time (64.0 +/- 1.2) h; body bend, (45.8 +/- 3.0) times, head thrash, (109.33 +/- 7.30) times, behavioral plasticity (3 +/- 4)% in 0 micromol/L aluminum exposed animals, the low-concentration (2.5 micromol/L) aluminium exposure caused severe defects of average survival days (20 d), body size [(1.12 +/- 0.02 ) mm, t = 14.55, P<0.01], brood size [(145 +/- 23), t = 30.62, P< 0.01], body bend [(29.8 +/- 3.0), t = 20.31, P<0.01], and head thrash, (95.8 +/- 6.2), t = 16.43, P < 0.01]. High-concentration aluminium exposure could further result in severe defects of generation time [75 micromol/L, (67.0 +/- 1.7 ) h, t = 8.92, P<0.01; 200 micromol/L, (70.7 +/- 1.5) h, t =15.13, P<0.01] and behavioral plasticity [75 micromol/L, (16.5 +/- 3.0)%, t = 27.11, P<0.05; 200 micromol/L, (23.5 +/- 4.0)%, t = 16.43, P<0.01]. Moreover, most of these toxicities caused by high-concentration aluminium exposure could be transferred from exposed animals to their progeny. In progeny animals, the phenotypic and behavioral defects might be only partially (such as body size, brood size, and locomotion behaviors) or very slightly (such as the lifespan defects induced by high concentrations of aluminium exposure) rescued. Especially, the generation time defects induced by aluminium exposure would become more severe in progeny animals than in their parents.</p><p><b>CONCLUSION</b>The multi-biological defects caused by aluminium exposure might be largely transferred from exposed animals to their progeny in Caenorhabditis elegans.</p>
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Animaux , Aluminium , Toxicité , Caenorhabditis elegans , Génétique , Effets secondaires indésirables des médicaments , Génétique , Exposition environnementale , Polluants environnementaux , Toxicité , Gènes d'helmintheRésumé
<p><b>OBJECTIVE</b>Previous work has showed that excess iron accumulation is harmful to reproduction and even promotes death; however, whether the multiple biological toxicity of iron (Fe) exposure could be transferred to progeny remains unknown. The present study used Caenorhabditis elegans to analyze the multiple toxicities of iron exposure and their possible transferable properties.</p><p><b>METHODS</b>Three concentrations of iron sulfate solution (2.5 micromol/L, 75 micromol/L, and 200 micromol/L) were used. The endpoints of lifespan, body size, generation time, brood size, head thrash and body bend frequencies, and chemotaxis plasticity were selected to investigate Fe toxicity and its effect on progeny in Caenorhabditis elegans.</p><p><b>RESULTS</b>The Fe toxicity could cause multiple biological defects in a dose-dependent manner by affecting different endpoints in nematodes. Most of the multiple biological defects and behavior toxicities could be transferred from Fe-exposed Caenorhabditis elegans to their progeny. Compared to the parents, no recovery phenotypes were observed for some of the defects in the progeny, such as body bend frequency and life span. We further summarized the defects caused by Fe exposure into 2 groups according to their transferable properties.</p><p><b>CONCLUSION</b>Our results suggest that Fe exposure could cause multiple biological defects, and most of these severe defects could be transferred from Fe exposed nematodes to their progeny.</p>
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Animaux , Comportement animal , Physiologie , Mensurations corporelles , Caenorhabditis elegans , Génétique , Physiologie , Relation dose-effet des médicaments , Fer , Toxicité , Composés du fer , Toxicité , Espérance de vie , Phénotype , Reproduction , Polluants du sol , Toxicité , Sulfates , ToxicitéRésumé
<p><b>OBJECTIVE</b>To characterize the audiological features in the infants with otitis media with effusion (OME) and to investigate the utility of variety of objective audiometry methods in diagnosis and intervention on OME.</p><p><b>METHODS</b>Fifty six infants (40 males and 16 females) were investigated, who were referred to our clinic at the General Hospital of Chinese People's Liberation Army by the other hospitals from December 2004 to June 2007 when the infants were diagnosed or highly suspected of OME. The ages at the initial diagnosis ranged from 42 days to three years, with an average of five months. The infants, after receiving the conventional otolaryngological exams, were subjected to the tests of auditory brainstem response (ABR), otoacoustic emission (OAE), tympanometry (226 Hz and 1000 Hz) and behaviors audiometry.</p><p><b>RESULTS</b>Among 56 affected infants, 87 ears were diagnosed with OME, of which 31 infants were affected bilateral and 25 with monaural. For the 49 infants who received hearing screening at birth, 36 infants were referred at the initial screening. For the 52 infants who received repeated screening, all subjects were referred. Six infants without receiving hearing screening came to clinic when their parents observed their kids' hearing impairment. Among the 52 cases (104 ears) who received tympanometry test, 20 subjects (28 ears) showed B or C type tympanometry curve. Thirty-nine cases (78 ears) were given tympanometry test at 1000 Hz, of which 38 cases (55 ears) showed abnormal hearing. Among 56 infants (112 ears) with ABR test, 49 subjects (74 ears) exhibited prolonged ABR type I curve. All 56 infants (112 ears) received OAE test, of which 55 subjects (81 ears) were referred. Four infants (8 ears) accepted the behavior test and all of them showed A-B Gap.</p><p><b>CONCLUSIONS</b>The combined tympanometry test at both 226 Hz and 1000 Hz, ABR latency or threshold test, infant's behavior test and OAE, used jointly, enable characterizing better OME in infants, thus helping early diagnosis of this hearing disorder.</p>
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Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Mâle , Tests d'impédance acoustique , Potentiels évoqués auditifs du tronc cérébral , Otite moyenne sécrétoireRésumé
<p><b>OBJECTIVE</b>To estimate correlation between phonetically balanced maximum (PB max) and pure tone auditory threshold in auditory neuropathy (AN) patients.</p><p><b>METHODS</b>One hundred and six AN patients were identified using multiple criteria including PB max, a metric for speech recognition, pure tone auditory threshold, acoustic emission test, distortion products otoacoustic emission (DPOAE) and auditory brainstem response (ABR). SPSS statistical software was used to estimate the Pearson's correlation between PB max and pure tone auditory threshold and to test whether pure tone auditory threshold, or auditory configuration had a significant impact on PB max.</p><p><b>RESULTS</b>Even the patients had the same or similar values for pure tone auditory threshold or auditory configuration, varied values of PB max were found in two hundreds and twelve ears for 106 patients. Analysis of the data for 106 patients revealed a negative correlation (r = -0. 602, P <0. 01) between PB max and pure tone auditory threshold, i. e. hearing loss at a mild relates to a lower PB max. By using analysis of variance (ANOVA) method, it was found that both pure tone auditory threshold and auditory configuration had a significant (P <0.01) impact on the patients' PB max.</p><p><b>CONCLUSIONS</b>This analysis implicated the promise and potential of pure tone auditory threshold and auditory configuration for predicting PB max of the AN patients, and improving the diagnosis of AN.</p>
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Adolescent , Adulte , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Mâle , Jeune adulte , Audiométrie tonale , Seuil auditif , Perception de la parole , Atteintes du nerf vestibulocochléaireRésumé
Planarian is among the simplest animals that possess a centralized nervous system (CNS), and its neural regeneration involves the replacement of cells lost to normal 'wear and tear' (cell turnover), and/or injury. In this review, we state and discuss the recent studies on molecular control of neural regeneration in planarians. The spatial and temporal expression patterns of genes in intact and regenerating planarian CNS have already been described relatively clearly. The bone morphogenetic protein (BMP) and Wnt signaling pathways are identified to regulate neural regeneration. During neural regeneration, conserved axon guidance mechanisms are necessary for proper wiring of the nervous system. In addition, apoptosis may play an important role in controlling cell numbers, eliminating unnecessary tissues or cells and remodeling the old tissues for regenerating CNS. The bilateral symmetry is established by determination of anterior-posterior (A-P) and dorsal-ventral (D-V) patterns. Moreover, neurons positive to dopamine, serotonin (5-HT), and gamma-aminobutyric acid (GABA) have been detected in planarians. Therefore, planarians present us with new, experimentally accessible contexts to study the molecular actions guiding neural regeneration.
Sujets)
Animaux , Apoptose , Protéines morphogénétiques osseuses , Métabolisme , Système nerveux central , Biologie cellulaire , Facteurs de croissance fibroblastique , Expression des gènes , Physiologie , Régénération nerveuse , Génétique , Agents neuromédiateurs , Métabolisme , Planaires , Génétique , Physiologie , Transduction du signal , Physiologie , Protéines de type Wingless , PhysiologieRésumé
<p><b>OBJECTIVE</b>To identify new genes required for neurosecretory control of aging in C. elegans.</p><p><b>METHODS</b>In view of the importance of nervous system in aging regulation, we performed the screen for genes involved in the aging regulation from genetic loci encoding synaptic proteins by lifespan assay and accumulation of lipofuscin autofluorescence. We further investigated the dauer formation phenotypes of their corresponding mutants and whether they were possibly up-regulated by the insulin-like signaling pathway.</p><p><b>RESULTS</b>The genetic loci of unc-10, syd-2, hlb-1, dlk-1, mkk-4, scd-2, snb-1, ric-4, nrx-1, unc-13, sbt-1 and unc-64 might be involved in the aging control. In addition, functions of unc-10, syd-2, hlb-1, dlk-1, mkk-4, scd-2, snb-1, ric-4 and nrx-1 in regulating aging may be opposite to those of unc-13, sbt-1 and unc-64. The intestinal autofluorescence assay further indicated that the identified long-lived and short-lived mutants were actually due to the suppressed or accelerated aging. Among the identified genes, syd-2, hlb-1, mkk-4, scd-2, snb-1, ric-4 and unc-64 were also involved in the control of dauer formation. Moreover, daf-2 mutation positively regulated the expression of syd-2 and hlb-1, and negatively regulated the expression of mkk-4, nrx-1, ric-4, sbt-1, rpm-1, unc-10, dlk-1 and unc-13. The daf-16 mutation positively regulated the expression of syd-2 and hlb-1, and negatively regulated the expression of mkk-4, nrx-1, sbt-1, rpm-1, unc-10, dlk-1 and unc-13.</p><p><b>CONCLUSION</b>These data suggest the possibly important status of the synaptic transmission to the animal's life-span control machinery, as well as the dauer formation control.</p>
Sujets)
Animaux , Vieillissement , Génétique , Caenorhabditis elegans , Génétique , Métabolisme , Protéines de Caenorhabditis elegans , Génétique , Analyse de mutations d'ADN , Régulation de l'expression des gènes , Génétique , Insuline , Métabolisme , Lipofuscine , Métabolisme , Longévité , Génétique , Mutation , Génétique , Protéines de tissu nerveux , Génétique , Système nerveux , Métabolisme , Neurosécrétion , Génétique , Transduction du signal , Génétique , Synapses , Génétique , Métabolisme , Transmission synaptique , GénétiqueRésumé
<p><b>OBJECTIVE</b>To examine the important roles of microRNAs (miRNAs) in regulating amphid structure and function, we performed a computational analysis for the genetic loci required for the sensory perception and their possibly corresponding miRNAs in C. elegans.</p><p><b>METHODS</b>Total 55 genetic loci required for the amphid structure and function were selected. Sequence alignment was combined with E value evaluation to investigate and identify the possible corresponding miRNAs.</p><p><b>RESULTS</b>Total 30 genes among the 55 genetic loci selected have their possible corresponding regulatory miRNA (s), and identified genes participate in the regulation of almost all aspects of amphid structure and function. In addition, our data suggest that both the amphid structure and the amphid functions might be regulated by a series of network signaling pathways. Moreover, the distribution of miRNAs along the 3' untranslated region (UTR) of these 30 genes exhibits different patterns.</p><p><b>CONCLUSION</b>We present the possible miRNA-mediated signaling pathways involved in the regulation of chemosensation and thermosensation by controlling the corresponding sensory neuron and interneuron functions. Our work will be useful for better understanding of the miRNA-mediated control of the chemotaxis and thermotaxis in C. elegans.</p>
Sujets)
Animaux , Caenorhabditis elegans , Embryologie , Génétique , Protéines de Caenorhabditis elegans , Génétique , Cils vibratiles , Génétique , Biologie informatique , Méthodes , Régulation de l'expression des gènes au cours du développement , Génétique , Génome , Génétique , microARN , Génétique , Modèles génétiques , Système nerveux , Embryologie , Métabolisme , Neurones afférents , Métabolisme , Sensation , Génétique , Transduction du signal , GénétiqueRésumé
Objective To screen and identify genetic loci affecting the active zone formation in C. elegans. Methods A SYD-2::GFP reporter was constructed and used as an active zone marker for forward genetic screen to identify genetic loci affecting the active zone formation. Results Eight isolated mutant alleles were characterized from 15,000 haploid genomes. The SYD-2::GFP phenotypes of these mutants are mainly reflected as the changes of number, morphology, distribution of puncta and the gaps appearance. Some mutants also exhibit visible behavioral or physical phenotypes, and aldicarb resistant or sensitive phenotypes. Conclusion These mutants provide the opportunity for further systematic research on the active zone formation and the neurotransmission.