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71.
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects 总被引:14,自引:0,他引:14
de Kok YJ; Bom SJ; Brunt TM; Kemperman MH; van Beusekom E; van der Velde- Visser SD; Robertson NG; Morton CC; Huygen PL; Verhagen WI; Brunner HG; Cremers CW; Cremers FP 《Human molecular genetics》1999,8(2):361-366
We analysed a Dutch family with autosomal dominant non-syndromic
progressive sensorineural hearing loss and mapped the underlying gene
defect by genetic linkage analysis to a 11.0 cM region overlapping the
DFNA9 interval on chromosome 14q12-q13. Clinically, the Dutch family
differs from the original DFNA9 family by a later age at onset and a more
clearly established vestibular impairment. A gene that is highly and
specifically expressed in the human fetal cochlea and vestibule, COCH
(previously described as Coch5B2 ), was mapped to the DFNA9 critical
region. Sequence analysis revealed a 208C-->T mutation in the COCH gene,
resulting in a Pro51Ser substitution in the predicted protein in all
affected individuals of the family but not in unaffected family members and
200 control individuals. The same mutation was also identified in three
apparently unrelated families with a similar phenotype, suggesting the
presence of a Dutch founder mutation. The function of COCH is unknown but
several characteristics of the protein point to a structural role in the
extracellular matrix. The mutant serine at position 51 is situated between
cysteines and possibly interferes with proper COCH protein folding or its
interaction with extracellular matrix proteins.
相似文献
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Testicular descent is a complex mechanism influenced by hormonal and anatomical factors. Whatever the age of the patient or the descent technique used for either one or both testes, there is a risk of degeneration and sterility counts. Anatomical studies and the results of sperm are important, hence the importance of establishing a precise anatomical and therapeutic classification. 相似文献
74.
The function of a new experimental microsurgical model of tubulovasostomy is evaluated. The model is represented by an end-to-end tubulodeferential anastomosis after removal of the proximal (juxtaepididymal) half of the vas deferens and segmental unfolding of the distal part of the epididymal tubule. Both anastomosed segments are evaluated for responsiveness to norepinephrine and field stimulation. The results are discussed in terms of accurate selection of segments to be anastomosed on the basis of their morphofunctional correlates; in fact, it seems worth replacing the segments removed only with others endowed with equivalent properties. 相似文献
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Tomasi C De Ponti R Tritto M Barilli AL Bottoni N Zardini M Menozzi C Spadacini G Salerno-Uriarte JA 《Journal of cardiovascular electrophysiology》2005,16(6):594-600
INTRODUCTION: Simultaneous dual atrioventricular nodal conduction (SDNC) through slow (SP) and fast pathway (FP) is a rare phenomenon observed upon the induction of atrioventricular nodal reciprocating tachycardia (AVNRT). The aim of this study is to report the electrophysiological features of patients showing typical AVNRT induced through SDNC. METHODS AND RESULTS: Among 461 consecutive patients with typical AVNRT submitted to radiofrequency catheter ablation (RFCA), seven patients (1.5%) with SDNC at tachycardia onset (group I: 6 female; age 60-72 years, mean 65.2 +/- 3.8 years) and 118 age-matched controls (group II: 60 female; age 60-88 years, mean 68.4 +/- 6.8 years) were considered. Controls were further subdivided into two subgroups according to age: subgroup A (94 patients, age 60-75 years) and subgroup B (24 patients, age >75 years). The value of the following parameters was significantly higher in group I than in group II and in subgroup A: A-H interval [113 +/- 26 vs. 89 +/- 27 (P < 0.01) vs. 84 +/- 19 (P < 0.001)], ventriculoatrial conduction effective refractory period [355 +/- 85 vs. 293 +/- 87 (P < 0.05) vs. 281 +/- 82 (P < 0.05)], SP conduction time upon AVNRT induction [444 +/- 104 vs. 350 +/- 72 (P < 0.01); vs. 345 +/- 67 (P < 0.001)], AVNRT cycle length [484 +/- 103 vs. 396 +/- 71 ms (P < 0.05); vs. 384 +/- 69 (P < 0.05)], and rate of AVNRT induction from ventricle [71% vs. 10% (P = 0.001); vs. 6% (P = 0.001)]. Differences were mostly not significant between group I and subgroup B. SP location and RFCA success rate were similar in all groups. CONCLUSION: In a population of AVNRT patients, SDNC at AVNRT induction is infrequent and it prevails beyond the fifth decade of life and in females. SDNC is associated with peculiar AVN conduction features, which resemble the age-related modifications of AVN conduction. 相似文献
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Lisa FP Ng Martin L Hibberd Eng-Eong Ooi Kin-Fai Tang Soek-Ying Neo Jenny Tan Karuturi R Krishna Murthy Vinsensius B Vega Jer-Ming Chia Edison T Liu Ee-Chee Ren 《BMC infectious diseases》2004,4(1):1-11
Background
Schistosoma mansoni and Plasmodium falciparum are common infections of school aged children in Kenya. They both cause enlargement of the spleen, but their relative contribution to the condition of splenomegaly remains unknown in areas where both infections are endemic. Here, we have investigated whether relatively high exposure to both infections has a clinically measurable effect on this condition.Methods
96 children aged 6–16 years living along a ten kilometre stretch and within 4 km south of a river that is a source of both S. mansoni and malaria infections were examined clinically for splenomegaly along the mid clavicular line (MCL) and mid axillary line (MAL). The survey was conducted outside the malaria transmission season. The consistency of the organ was recorded as soft, firm or hard. Mapping of the locations of houses and the course of the river was undertaken. Egg counts were mapped at the household level, as were IgG3 responses to Plasmodium falciparum schizont antigen (anti-Pfs IgG3), in order to identify areas with relatively high exposure to both infections, either infection or neither infection. ANOVA was used to test for differences in egg counts, IgG3 levels and the magnitude of spleen enlargement between these areas.Results
4 contiguous sectors were identified, one where anti-Pfs IgG3 responses and S. mansoni egg counts were both high, one where only anti-Pfs IgG3 responses were high, one where only egg counts were high, and one where both anti-Pfs IgG3 responses and egg counts were low. Spleen MAL and MCL values were significantly higher amongst children from the sector with highest IgG3 levels and highest egg counts but similar amongst children from elsewhere. Both egg counts and anti-Pfs IgG3 responses were significantly higher in children with MAL values >=4 cm. Hardening of spleens was associated with proximity of domicile to the river.Conclusions
Micro-geographical variation in exposure to S. mansoni and malaria infections can be exploited to investigate the chronic impact of these two infections. These results provide firm evidence that relatively high exposure to both infections exacerbates splenomegaly even outside the malaria transmission season. Major implications include assessing the burden of infection in school age-children. 相似文献79.
De Ponti R Tritto M Lanzotti ME Spadacini G Marazzi R Caravati F Salerno-Uriarte JA 《Pacing and clinical electrophysiology : PACE》2004,27(8):1170-1171
This paper reports the experience of successful cryoablation of fast atrioventricular nodal pathway in a patient with recurrent atrioventricular nodal reentrant tachycardia after previous unsuccessful attempts of slow pathway ablation. Slow formation of a permanent lesion by cryothermal energy application allowed precise modulation of atrioventricular nodal conduction until the endpoints of complete fast pathway ablation were met with long-term cure of the arrhythmia. 相似文献
80.