Further Contributions to the Genetic Aspect of Congenital Sensorineural Deafness in Dalmatians

2002 ◽  
Vol 163 (3) ◽  
pp. 311-318 ◽  
Author(s):  
A.C. Muhle ◽  
A. Jaggy ◽  
C. Stricker ◽  
F. Steffen ◽  
G. Dolf ◽  
...  
2014 ◽  
Vol 4 (1) ◽  
Author(s):  
Mary Morgan ◽  
Philip Stokoe

James Fisher's work on curiosity and the authors' own thinking in this area are described. Fisher's view of curiosity, as a genetic aspect of human nature, and as the essential driver causing the development of the mind and of consciousness, is restated. The focus of curiosity is emotion, and emotion is meaningful. Thus curiosity serves to represent symbolically the meaning of our experience. The authors agree with Fisher, Bion, and Britton that the impulse to curiosity stands alongside the impulse to pleasure, and that the tension between these two impulses affects and guides our psychological and emotional development. The fields of couple psychoanalytic psychotherapy and organisational consultancy are drawn on to demonstrate the centrality of curiosity and to indicate its essential role in the development of a creative couple stage of identity. The importance of anxiety in either stimulating or de-activating curiosity is described. The authors emphasise the balance between the pleasure impulse and the impulse to curiosity by showing that L and H can be seen as the former, while K pertains to the latter. Where anxiety closes down curiosity, it is argued that this is an example of L and H dominating K, and is another way to describe the paranoid-schizoid position.


2020 ◽  
Author(s):  
Laura Mazoni ◽  
Matteo Apicella ◽  
Simona Borsari ◽  
Chiara Banti ◽  
Angela Michelucci ◽  
...  

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1686
Author(s):  
Adelaida M. Celaya ◽  
Lourdes Rodríguez-de la Rosa ◽  
Jose M. Bermúdez-Muñoz ◽  
José M. Zubeldia ◽  
Carlos Romá-Mateo ◽  
...  

Insulin-like growth factor 1 (IGF-1) deficiency is an ultrarare syndromic human sensorineural deafness. Accordingly, IGF-1 is essential for the postnatal maturation of the cochlea and the correct wiring of hearing in mice. Less severe decreases in human IGF-1 levels have been associated with other hearing loss rare genetic syndromes, as well as with age-related hearing loss (ARHL). However, the underlying mechanisms linking IGF-1 haploinsufficiency with auditory pathology and ARHL have not been studied. Igf1-heterozygous mice express less Igf1 transcription and have 40% lower IGF-1 serum levels than wild-type mice. Along with ageing, IGF-1 levels decreased concomitantly with the increased expression of inflammatory cytokines, Tgfb1 and Il1b, but there was no associated hearing loss. However, noise exposure of these mice caused increased injury to sensory hair cells and irreversible hearing loss. Concomitantly, there was a significant alteration in the expression ratio of pro- and anti-inflammatory cytokines in Igf1+/− mice. Unbalanced inflammation led to the activation of the stress kinase JNK and the failure to activate AKT. Our data show that IGF-1 haploinsufficiency causes a chronic subclinical proinflammatory age-associated state and, consequently, greater susceptibility to stressors. This work provides the molecular bases to further understand hearing disorders linked to IGF-1 deficiency.


Genetics ◽  
1997 ◽  
Vol 145 (3) ◽  
pp. 771-776 ◽  
Author(s):  
Timothy P Hutchin ◽  
Gino A Cortopassi

A point mutation (1555G) in the smaller ribosomal subunit of the mitochondrial DNA (mtDNA) has been associated with maternally inherited traits of hypersensitivity to streptomycin and sensorineural deafness in a number of families from China, Japan, Israel, and Africa. To determine whether this distribution was the result of a single or multiple mutational events, we carried out genetic distance analysis and phylogenetic analysis of 10 independent mtDNA D-loop sequences from Africa and Asia. The mtDNA sequence diversity was high (2.21%). Phylogenetic analysis assigned 1555G-bearing haplotypes at very divergent points in the human mtDNA evolutionary tree, and the 1555G mutations occur in many cases on race-specific mtDNA haplotypes, both facts are inconsistent with a recent introgression of the mutation into these races. The simplest interpretation of the available data is that there have been multiple origins of the 1555G mutation. The genetic distance among mtDNAs bearing the pathogenic 1555G mutation is much larger than among mtDNAs bearing either evolutionarily neutral or weakly deleterious nucleotide substitutions (such as the 4336G mutation). These results are consistent with the view that pathogenic mtDNA haplotypes such as 1555G arise on disparate mtDNA lineages which because of negative natural selection leave relatively few related descendants. The co-existence of the same mutation with deafness in individuals with very different nuclear and mitochondrial genetic backgrounds confirms the pathogenicity of the 1555G mutation.


2013 ◽  
Vol 2013 ◽  
pp. 1-6
Author(s):  
Sera Sımsek Derelioglu ◽  
Yücel Yılmaz ◽  
Sultan Keles

KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC) and dental treatments done under General Anesthesia (GA) were reported.


1993 ◽  
Vol 107 (3) ◽  
pp. 179-182 ◽  
Author(s):  
J. R. Cullen ◽  
M. J. Cinnamond

The relationship between diabetes and senbsorineural hearing loss has been disputed. This study compares 44 insulin-dependent diabetics with 38 age and sex matched controls. All had pure tone and speech audiometry performed, with any diabetics showing sensorineural deafness undergoing stapedial reflecx decat tests. In 14 diabetics stapedial reflex tests showed no tone decay in any patient, but seven showed evidence of recruitment. Analysis of vaiance showed the diabetics to be significantly deafer than the control population.The hearing loss affected high frequencies in both sexes, but also low frequencies in the male. Speech discrimination scores showed no differences. Further analysis by sex showed the males to account for most of the differences. Analysys of the audiograms showered mostly a high tone loss. Finally duration of disbetes, insulin dosage and family history of diabtes were not found to have a significant effect on threshold.


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