Bibliografías temáticas / Usher syndrome type 3

Literatura académica sobre el tema "Usher syndrome type 3"

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Publicado: 25 de mayo de 2024

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Artículos de revistas sobre el tema "Usher syndrome type 3"

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Castiglione, Alessandro y Claes Möller. "Usher Syndrome". Audiology Research 12, n.º 1 (11 de enero de 2022): 42–65. http://dx.doi.org/10.3390/audiolres12010005.

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Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH.
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2

Sahu, Sabin y Sanjay Kumar Singh. "Usher syndrome Type I in an adult Nepalese male: a rare case report". Nepalese Journal of Ophthalmology 9, n.º 2 (21 de febrero de 2018): 203–5. http://dx.doi.org/10.3126/nepjoph.v9i2.19271.

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Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital sensorineural hearing loss. It has been estimated to account for 3-6% of the congenitally deaf population, upto 8-33% of individuals with RP and half of all cases with combined deafness and blindness (Vernon M,1969; Boughman JA et al,1983). The prevalence of Usher syndrome have been reported to range from 3.5 to 6.2 per 100,000 in different populations (Vernon M,1969; Boughman JA et al,1983; Yan D et al, 2010).We report a case of Usher syndrome type I in an adult Nepalese male with typical congenital profound hearing loss, and night blindness secondary to retinitis pigmentosa.
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3

Yoshimura, Hidekane, Chie Oshikawa, Jun Nakayama, Hideaki Moteki y Shin-ichi Usami. "Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3". Annals of Otology, Rhinology & Laryngology 124, n.º 1_suppl (5 de marzo de 2015): 94S—99S. http://dx.doi.org/10.1177/0003489415574069.

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Objective: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. Methods: Genetic analysis using massively parallel DNA sequencing (MPS) was conducted to search for 9 causative USH genes in 2 USH3 patients. Results: We identified the novel pathogenic mutation in the CLRN1 gene in 2 patients. The missense mutation was confirmed by functional prediction software and segregation analysis. Both patients were diagnosed as having USH3 caused by the CLRN1 gene mutation. Conclusion: This is the first report of USH3 with a CLRN1 gene mutation in Asian populations. Validating the presence of clinical findings is imperative for properly differentiating among USH subtypes. In addition, mutation screening using MPS enables the identification of causative mutations in USH. The clinical diagnosis of this phenotypically variable disease can then be confirmed.
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4

Wagenaar, Mariette, Paul Draaijer, Hans Meek, H. J. ten Donkelaar, Pieter Wesseling, William Kimberling y Cor Cremers. "The cochlear nuclei in two patients with Usher syndrome type I". International Journal of Pediatric Otorhinolaryngology 50, n.º 3 (noviembre de 1999): 185–95. http://dx.doi.org/10.1016/s0165-5876(99)00246-3.

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Pietola, Laura, Antti A. Aarnisalo, Akram Abdel-Rahman, Hanna Västinsalo, Juha Isosomppi, Heikki Löppönen, Erna Kentala et al. "Speech Recognition and Communication Outcomes With Cochlear Implantation in Usher Syndrome Type 3". Otology & Neurotology 33, n.º 1 (enero de 2012): 38–41. http://dx.doi.org/10.1097/mao.0b013e31823dbc56.

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Joensuu, Tarja, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante et al. "Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3". American Journal of Human Genetics 69, n.º 4 (octubre de 2001): 673–84. http://dx.doi.org/10.1086/323610.

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Smith, Richard J. H., Elizabeth C. Lee, William J. Kimberling, Stephen P. Daiger, Mary Z. Pelias, Bronya J. B. Keats, Marcelle Jay et al. "Localization of two genes for usher syndrome type I to chromosome 11". Genomics 14, n.º 4 (diciembre de 1992): 995–1002. http://dx.doi.org/10.1016/s0888-7543(05)80122-3.

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Cuzzuol, Beatriz Rocha, Jonathan Santos Apolonio, Ronaldo Teixeira da Silva Júnior, Lorena Sousa de Carvalho, Luana Kauany de Sá Santos, Luciano Hasimoto Malheiro, Marcel Silva Luz et al. "Usher syndrome: Genetic diagnosis and current therapeutic approaches". World Journal of Otorhinolaryngology 11, n.º 1 (19 de enero de 2024): 1–17. http://dx.doi.org/10.5319/wjo.v11.i1.1.

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Usher Syndrome (USH) is the most common deaf-blind syndrome, affecting approximately 1 in 6000 people in the deaf population. This genetic condition is characterized by a combination of hearing loss (HL), retinitis pigmentosa, and, in some cases, vestibular areflexia. Among the subtypes of USH, USH type 1 is considered the most severe form, presenting profound bilateral congenital deafness, vestibular areflexia, and early onset RP. USH type 2 is the most common form, exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high frequencies. Conversely, type 3 is the rarest, initially manifesting mild symptoms during childhood that become more prominent in the first decades of life. The dual impact of USH on both visual and auditory senses significantly impairs patients’ quality of life, restricting their daily activities and interactions with society. To date, 9 genes have been confirmed so far for USH: MYO7A , USH1C , CDH23 , PCDH15 , USH1G , USH2A , ADGRV1 , WHRN and CLRN1 . These genes are inherited in an autosomal recessive manner and encode proteins expressed in the inner ear and retina, leading to functional loss. Although non-genetic methods can assist in patient triage and disease extension evaluation, genetic and molecular tests play a pivotal role in providing genetic counseling, enabling appropriate gene therapy, and facilitating timely cochlear implantation (CI). The CRISPR/Cas9 system and viral-based gene replacement therapy have recently emerged as highly promising techniques for treating USH. Regarding drug therapy, PTC-124 and Nb54 have been identified as promising drug interventions for genetic HL in USH. Simultaneously, CI has proven to be critical in the restoration of hearing. This review aims to summarize the genetic and molecular diagnosis of USH and highlight the importance of early diagnosis in guiding appropriate treatment strategies and improving patient prognosis.
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9

Ahmed, Zubair M., Saima Riazuddin, Sandar Aye, Rana A. Ali, Hanka Venselaar, Saima Anwar, Polina P. Belyantseva, Muhammad Qasim, Sheikh Riazuddin y Thomas B. Friedman. "Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome". Human Genetics 124, n.º 3 (22 de agosto de 2008): 215–23. http://dx.doi.org/10.1007/s00439-008-0543-3.

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Li, Taoxi, Yong Feng, Yalan Liu, Chufeng He, Jing Liu, Hongsheng Chen, Yuyuan Deng et al. "A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review". Gene 704 (julio de 2019): 113–20. http://dx.doi.org/10.1016/j.gene.2019.04.008.

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Tesis sobre el tema "Usher syndrome type 3"

1

Joensuu, Tarja. "Positional cloning of the usher syndrome type 3 gene (USH3)". Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/joensuu/.

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Wentling, Maureen. "Characterization of the disease mechanisms underlying clarin-mediated progressive hearing loss". Electronic Thesis or Diss., Sorbonne université, 2023. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2023SORUS386.pdf.

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Malgré la forte prévalence de la déficience auditive, les mécanismes sous-jacents de la perte auditive progressive restent inconnus. Notre laboratoire a étudié le(s) rôle(s) de la clarine-1, responsable du syndrome d'Usher de type III, qui entraîne une perte auditive progressive, et de la clarine-2, responsable de la surdité non syndromique, dans le système auditif. En raison de la variabilité phénotypique chez les patients atteints du syndrome d'Usher de type III, même parmi les patients présentant les mêmes mutations génétiques, nous avons émis l'hypothèse qu'il pourrait y avoir une redondance fonctionnelle entre les deux clarines. Nous avons donc généré des souris knock-out totales et conditionnelles (Bhlhb5-cre et Myo15-cre) pour la clarine-1/clarine-2. En utilisant une approche multidisciplinaire, intégrant des études omiques et électrophysiologiques avec une imagerie à haute résolution dans le temps, j'ai identifié les voies moléculaires clés dérégulées en l'absence de clarine-1 et clarine-2 dans les cellules ciliées auditives et les neurones auditifs primaires. L'analyse phénotypique des souris Clrn1-/-Clrn2-/- a révélé une surdité profonde dès l'apparition de l'audition. Les enregistrements de courant de transduction mécano-électrique (MET) étaient absents chez les souris Clrn1-/-Clrn2-/-, mais seulement réduits chez les souris Clrn1-/- et Clrn2-/-. Ces résultats démontrent un rôle fonctionnel compensatoire de la clarine-1 et de la clarine-2 au niveau de la touffe ciliaire. J'ai également observé des anomalies de l'homéostasie ionique, nécessaires au fonctionnement normal de la MET et à la transmission synaptique, qui étaient plus graves chez les souris Clrn1-/-Clrn2-/- que chez les souris Clrn1-/- et Clrn2-/-. Ces changements ioniques s'accompagnent de troubles pré- et postérieurs à l'apparition de la maladie. Pour valider l'hypothèse selon laquelle le(s) rôle(s) principal(aux) de la clarine-1 et de la clarine-2 se situe(nt) dans les cellules ciliées, j'ai étudié des souris chez lesquelles la clarine-1 et la clarine-2 ont été inactivées de manière spécifique dans les cellules ciliées (Myo15-cre). Ces souris knock-out conditionnelles reproduisaient les changements ioniques et synaptiques observés chez les souris knock-out totales pour les clarines, entraînant une dégénérescence des neurones auditifs primaires. Pour renforcer cette hypothèse, j'ai étudié le phénotype auditif chez des souris ayant subi une délétion spécifique des neurones auditifs primaires (Bhlhb5-cre) de la clarine-1 et de la clarine-2. Ces souris avaient une audition normale jusqu'à l'âge de 6 mois, sans modification de l'épithélium sensoriel cochléaire ni de la dégénérescence des neurones auditifs primaires. Afin d'approfondir les fonctions moléculaires communes et uniques de clarine-1 et clarine-2, j'ai effectué une analyse séquentielle de l'ARN sur l'organe de Corti entier de souris Clrn1-/-, Clrn2-/- et Clrn1-/-Clrn2-/-. Conformément aux observations physiologiques, j'ai constaté une dysrégulation dans 8 catégories distinctes et physiologiquement pertinentes : le flux cationique, l’organisation et la fonction synaptique, l’endocytose et l’exocytose, la fonction neuronale et différenciation, la fonction métabolique, l’organisation de l'actine et du cytosquelette, l’homéostasie lipidique et l’inflammation. Nous concluons que la clarine-1 et la clarine-2 jouent des rôles communs et compensatoires dans l'activité de transduction mécano-électrique et dans l'intégrité pré- et post-synaptique. Les clarines sont également nécessaires à l'intégrité de la touffe ciliaire auditive, à l'homéostasie ionique dans les cellules ciliées auditives et à la survie des neurones auditifs primaires. Ces résultats permettront d'élucider de nouveaux mécanismes impliqués dans la perte progressive de l'audition
Despite high prevalence of debilitating hearing loss, underlying mechanisms of progressive hearing loss remain elusive. Our lab has been investigating the role(s) of clarin-1, responsible for Usher syndrome type III, causing progressive hearing loss, and clarin-2, responsible for non-syndromic hearing impairment, in the auditory system. Due to phenotypic variability in Usher Syndrome type III patients, even among patients with the same genetic mutations, we hypothesized that there may be a functional redundancy between the two clarins. Therefore, we generated clarin-1/clarin-2 total and conditional (Bhlhb5-cre and Myo15-cre) knockout mice. Using a multidisciplinary approach, integrating omics and electrophysiological studies with high resolution imaging over time, I pinpointed key molecular pathways dysregulated in the absence of clarin-1 and clarin-2 in auditory hair cells and primary auditory neurons. Phenotypic analysis of Clrn1-/-Clrn2-/- mice revealed profound deafness from hearing onset. Mechanoelectrical transduction (MET) current recordings were absent in Clrn1-/-Clrn2-/- mice, but only reduced in Clrn1-/- and Clrn2-/- mice. These results demonstrate a compensatory functional role of clarin-1 and clarin-2 at the hair bundle. I also observed abnormalities in ionic homeostasis, required for normal MET function and synaptic transmission, that were more severe in Clrn1-/-Clrn2-/- mice, relative to Clrn1-/- and Clrn2-/- mice. These ionic changes were accompanied by pre- and post-synaptic abnormalities, resulting in abnormal cytoplasmic vesicle accumulation and synaptic function in hair cells. Furthermore, I observed a progressive degeneration of the cochlear sensory epithelium and primary auditory neurons over time. To validate the hypothesis that the primary role(s) of clarin-1 and clarin-2 are in hair cells, I studied mice with hair cell-specific (Myo15-cre) deletion of clarin-1 and clarin-2. These conditional clarin knockout mice mimicked the ionic and synaptic changes found in total clarin knockout mice, resulting in primary auditory neuron degeneration. To reinforce this hypothesis, I studied the auditory phenotype in mice with primary auditory neuron-specific (Bhlhb5-cre) deletion of clarin-1 and clarin-2. These mice had normal audition up to 6 months of age, with no cochlear sensory epithelial changes or primary auditory neuron degeneration. To dig deeper into the common and unique molecular functions of clarin-1 and clarin-2, I performed RNA-seq on whole organ of Corti from Clrn1-/-, Clrn2-/-, and Clrn1-/-Clrn2-/- mice. In accordance with physiological observations, I found dysregulation in 8 distinct and physiologically relevant categories: cationic flux, synaptic organization and function, endocytosis and exocytosis, neuronal function and differentiation, metabolic function, actin and cytoskeletal organization, lipid homeostasis, and inflammation. We conclude that clarin-1 and clarin-2 play common and compensatory roles in mechanoelectrical transduction activity and pre- and post-synaptic integrity. The clarins are also required for auditory hair bundle integrity, ion homeostasis in auditory hair cells, and primary auditory neuronal survival. These findings will help elucidate novel mechanisms implicated in progressive hearing loss
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3

Blaydon, Diana Claire. "Molecular genetics of Usher syndrome type 1C". Thesis, University College London (University of London), 2004. http://discovery.ucl.ac.uk/1446499/.

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Usher syndrome type 1C is an autosomal recessive condition in which profound, congenital sensorineural deafness is found in association with vestibular hypofunction and childhood onset retinitis pigmentosa. The gene responsible for Usher type 1C, USH1C, codes for a PDZ domain-containing protein, harmonin, of unknown function. In addition, the locus for a form of non- syndromic autosomal recessive deafness, DFNB18, overlaps with the USH1C gene. In this thesis the USH1C gene is studied in more detail, both at the molecular level and at the protein level. Two cohorts of patients, individuals diagnosed with Usher type 1, and a group of sibs with recessive non-syndromic deafness concordant for markers flanking the DFNB18 locus, were screened for mutations in USH1C. One Usher type 1 patient was homozygous for a recurrent mutation, and the possibility of a founder effect was investigated by analysing intragenic SNPs. Another Usher type 1 patient had two novel coding mutations that were studied in more detail to establish whether they were likely to be disease-causing or represent rare polymorphisms. USH1C is an alternatively spliced gene with evidence for tissue-specific isoforms of the protein. The repertoire of alternative isoforms and their tissue distributions were studied in human foetal tissues using non-quantitative RT- PCR. Particular attention was paid to a putative isoform thought to utilize an alternative start site in the centre of the gene. This isoform may have importance in other tissues when a mutation at the 5' end of USH1C results in a non-functional protein from the usual start site. The sub-cellular localization of harmonin was investigated in individual human epithelial cells using fluorescent immunocytochemistry, and fluorescent immunohistochemistry was used to study the localization in mouse inner ear sections. Finally, to understand more about the possible role of harmonin in the ear and the eye, an in vitro GST pull-down assay was set up to investigate the interaction of harmonin with another Usher type 1 protein, protocadherin 15.
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4

Henricson, Cecilia. "Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2". Doctoral thesis, Linköpings universitet, Institutionen för beteendevetenskap och lärande, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-120114.

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The present thesis belongs to the research area disability research and deal with specific aspects of cognition in individuals with Usher syndrome type 1 and 2. The subject has been investigated and is discussed within an interdisciplinary framework, though the theories applied and described are derived from the area of cognitive psychology. Usher syndrome is a rare genetic condition causing a combination of visual and hearing impairment: deafblindness. There is a congenital hearing loss that is profound in type 1 and moderate to severe in type 2. During mid-childhood symptoms of visual impairment, e.g. light sensitivity, emerge and a progressive loss of visual field follows as a result of the genetically caused eye disease Retinitis Pigmentosa. The syndrome has previously been well described with respect to the genetical and medical aspects, but there has been very little research with a cognitive perspective on the population. Studies 1 and 2 in the present thesis focused on children with Usher syndrome type 1 with cochlear implants and investigated phonological skills, lexical access, working memory and reading skill in the group. Studies 3 & 4 investigated the same cognitive abilities and theory of mind in adults with Usher syndrome type 2. In study 4 the performance on theory of mind in the adults with Usher syndrome type 2 was also compared to that of another group with genetically caused deafblindness: individuals with Alström syndrome. The results were that both the children and adults with Usher syndrome had significantly poorer phonological processing than the control groups with normal hearing. There was a large variation on performance on lexical access, especially in the group of children, however several individuals performed at the same level as the control group. Reading skill was found to be at level with the control groups’. There was also great variation in performance on ToM, however the majority of individuals performed similar to the control group with normal hearing and vision. The present project has resulted in some new knowledge on cognitive performance in  individuals with Usher syndrome type 1 and type 2. Performance in the participants with Usher syndrome can to a large extent can be understood by application of the models developed in previous research on populations with hearing impairment or deafness for understanding the impact of hearing with a hearing aid or cochlear implant. However, individuals with Usher syndrome experience additional difficulties in accessing information due to the progressive visual loss and the impact this has on performance is still largely unknown. Hence, the present project would recommend that interventions and support would be designed specifically to each individuals’ needs, with consideration of both the visual impairment and the hearing impairment.
Föreliggande avhandling tillhör ämnet handikappvetenskap och beskriver specifika kognitiva förmågor hos personer med Ushers syndrom typ 1 och 2. Avhandlingens ämne har undersökts utifrån ett tvärvetenskapligt perspektiv, även om de teorier som tillämpas och beskrivs huvudsakligen härrör inom området kognitiv psykologi. Ushers syndrom är en ovanlig genetisk åkomma som leder till kombinationen av syn- och hörselnedsättning: dövblindhet. Individer med typ 1 av syndromet har medfödd dövhet medan individer med typ 2 har en medfödd måttlig till grav hörselnedsättning. Någon gång i åldrarna 6-10 år börjar de första symptomen, till exempel nedsatt mörkerseende, på den genetiskt betingade progressiva synnedsättningen Retinitis Pigmentosa att framträda. Syndromet är väl beskrivet i forskningen med avseende på genetiska och medicinska aspekter, men det finns extremt lite tidigare forskning med kognitivt perspektiv om populationen. Studierna 1 och 2 i föreliggande avhandling fokuserade på barn med Ushers syndrom typ 1 och cochleaimplantat. Dessa studier undersökte fonologisk förmåga, lexikal access, arbetsminne och läsning i gruppen. Studie 3 undersökte samma kognitiva förmågor hos vuxna med typ 2 av syndromet. I studie 4 undersöktes även den sammansatta förmågan Theory of Mind hos de vuxna med typ 2 och deras prestation jämfördes både mot en kontroll grupp med normal hörsel och syn och en kontrollgrupp med annan typ av dövblindhet; Alström syndrom. Resultaten visade att både barnen och de vuxna med Ushers syndrom hade signifikant sämre fonologisk förmåga än kontrollgruppen med normal hörsel. Nivån på prestation varierade stort inom grupperna, särskilt mellan barnen med typ 1, och flera av individerna (barn och vuxna) presterade trots hörselnedsättningen på samma nivå som de normalhörande. Läsfärdigheten befanns vara i nivå med kontrollgrupperna. I den vuxna gruppen var det stor variation i prestation även på Theory of Mind, men de flesta av individerna presterade liknande som kontrollgruppen med normal hörsel och syn. Föreliggande projekt har resulterat i lite mer kunskap om kognitiva färdigheter hos individer med Ushers syndrom typ 1 och 2. De resultat som individerna med Ushers syndrome presterade kan till stor del förstås och tolkas genom tillämpning av teorier och modeller utvecklade för att den inverkan på kognitiva förmågor det har att ha nedsatt hörsel och höra med hjälp av hörselapparat eller cochleaimplantat. Dock tyder fynden i detta projekt även på att individer med Ushers syndrom på grund av den allvarliga synnedsättningen har ytterligare svårigheter att få tillgodogöra sig information, men i vilken utsträckning och på vilket sätt är ännu inte beskrivet. Utifrån fynden i föreliggande studie blev rekommendation att interventioner och stöd till personer med Ushers syndrom utformas specifikt till varje individ, med hänsyn taget både till hens grad av synnedsättning och hörselnedsättning.
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Labbe, Ménélik. "Caractérisation fonctionnelle du complexe de transduction mécano-électrique des cellules ciliées du système auditif". Electronic Thesis or Diss., Paris 6, 2016. http://www.theses.fr/2016PA066543.

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Le syndrome d’Usher (USH) associe une surdité neurosensorielle congénitale et une perte progressive de la vision par rétinite pigmentaire. Pendant ma thèse, l’essentiel de mon travail a porté sur un gène responsable du syndrome d’Usher de type 2, USH2A. Ce gène code pour l’usherine, une protéine associée aux liens fibreux interstéréociliaires situés à la base de la touffe ciliaire des cellules ciliées de la cochlée. Ces liens transitoires disparaissent autour du 9e jour post-natal (P9), chez la souris et le complexe moléculaire associé à ces liens inclut l’usherine, adgrv1 (un récepteur membranaire couplé aux protéines G), la whirline, et pdzd7 (deux protéines sous-membranaires d’échafaudage contenant des domaines PDZ). Des travaux précédents ont montré que l’interaction de ces quatre protéines était nécessaire à un développement correct de la touffe ciliaire, qui lui-même conditionne la transduction mécano-électrique opérée par les cellules ciliées. Pendant ma thèse, j’ai étudié les effets, à court terme et à long terme, de l’absence de la plus longue des 2 isoformes connues de l’usherine, l’isoforme-b transmembranaire, sur des souris mutantes pour le gène Ush2a (Ush2aΔTM/ΔTM). Chez ces souris, j’ai effectué des mesures de courants de transduction mécano-électrique, des enregistrements des potentiels évoqués auditifs (PEA), des tests de masquage auditif, et une analyse morphologique des cellules ciliées par imagerie au microscope électronique à balayage. Ainsi, j’ai pu montrer que les liens interstéréociliaires basaux étaient présents à P4 et que les courants de transduction mécano-électrique étaient normaux à P7. L’absence de l’isoforme-b de l’usherine n’a, en fait, que très peu de conséquences morphologiques et fonctionnelles sur la touffe ciliaire des cellules ciliées de la cochlée durant les 3 ou 4 premiers mois de vie chez la souris. A partir de l’âge de 4 mois cependant, les souris Ush2aΔTM/ΔTM souffrent d’une perte progressive de l’audition et d’anomalies de la sélectivité dans l’analyse des fréquences du son, dues surtout à un dysfonctionnement des cellules ciliées externes. Ces résultats viennent alimenter le débat sur le caractère progressif de la surdité du syndrome d’Usher de type 2A. La surdité des patients USH2A est considérée comme étant le plus souvent non progressive, mais plusieurs études ont révélé que certains patients souffrent en fait d’une surdité progressive. Mon travail a permis de montrer que chez la souris, la surdité en rapport avec des mutations d’Ush2a peut également être progressive. L’existence potentielle d’une fenêtre temporelle chez les patients USH2A dont la surdité moins sévère à la naissance, va ensuite s’aggraver, pourrait permettre d’envisager dans le futur un traitement curatif précoce du déficit auditif de ces patients, par thérapie génique
Usher syndrome (USH) is characterised by a sensorineural congenital deafness and a progressive loss of vision by retinitis pigmentosa. During my PhD, my main focus of study was a gene responsible for Usher syndrome type 2, USH2A. This gene codes for usherin, a protein associated with the fibrous links located at the base of the hair bundle of cochlear, and vestibular hair cells. In mice, these transitory links start to disappear as of postnatal day 9 (P9), and the molecular complex with which they are associated is composed of usherin, adgrv1 (an adhesion G protein coupled receptor), whirlin, and pdzd7 (two submembranous PDZ domain-containing scaffold proteins). Previous work has shown that the interaction in between these 4 proteins is essential for the development of the hair bundle, the structure responsible for the initiation of the mechano-electrical transduction (MET) process in the hair cells. During my thesis, I studied the short term and long term effects of the absence of the longest of the 2 usherin isoforms, the transmembrane b-isoform, in mice carrying a mutation in the Ush2a gene (Ush2aΔTM/ΔTM). In these mice, I measured mechano-electrical currents, auditory brainstem responses, undertook auditory masking tests, and analysed scanning electron micrographs of cochlear hair bundles. Through this work, I showed that basal lateral links similar to ankle links could be observed on P4, and that MET currents were normal on P7. The absence of the long b-isoform of usherin actually has very little effect on the morphology or the function of the cochlear hair bundle in mice, until 3 or 4 months of age. As of 4 months old however, Ush2aΔTM/ΔTM mice suffer from a progressive hearing loss, and frequency selectivity defects, mainly cause by a dysfunction of outer hair cells. These results will further add to the debate on whether the hearing loss in Usher syndrome type 2A is progressive or not. Hearing loss in USH2A patients is generally considered non progressive, but several studies have given indication to the contrary. My work has shown that in mice, deafness caused by mutations to the Ush2a gene can also follow a progressive pattern. The potential existence of this temporal window in USH2A patients whose hearing impairment is less severe at birth, but gets worse over time, could allow clinicians to use gene therapy as curative treatment for patients who fall into this category
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Labbe, Ménélik. "Caractérisation fonctionnelle du complexe de transduction mécano-électrique des cellules ciliées du système auditif". Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066543/document.

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Le syndrome d’Usher (USH) associe une surdité neurosensorielle congénitale et une perte progressive de la vision par rétinite pigmentaire. Pendant ma thèse, l’essentiel de mon travail a porté sur un gène responsable du syndrome d’Usher de type 2, USH2A. Ce gène code pour l’usherine, une protéine associée aux liens fibreux interstéréociliaires situés à la base de la touffe ciliaire des cellules ciliées de la cochlée. Ces liens transitoires disparaissent autour du 9e jour post-natal (P9), chez la souris et le complexe moléculaire associé à ces liens inclut l’usherine, adgrv1 (un récepteur membranaire couplé aux protéines G), la whirline, et pdzd7 (deux protéines sous-membranaires d’échafaudage contenant des domaines PDZ). Des travaux précédents ont montré que l’interaction de ces quatre protéines était nécessaire à un développement correct de la touffe ciliaire, qui lui-même conditionne la transduction mécano-électrique opérée par les cellules ciliées. Pendant ma thèse, j’ai étudié les effets, à court terme et à long terme, de l’absence de la plus longue des 2 isoformes connues de l’usherine, l’isoforme-b transmembranaire, sur des souris mutantes pour le gène Ush2a (Ush2aΔTM/ΔTM). Chez ces souris, j’ai effectué des mesures de courants de transduction mécano-électrique, des enregistrements des potentiels évoqués auditifs (PEA), des tests de masquage auditif, et une analyse morphologique des cellules ciliées par imagerie au microscope électronique à balayage. Ainsi, j’ai pu montrer que les liens interstéréociliaires basaux étaient présents à P4 et que les courants de transduction mécano-électrique étaient normaux à P7. L’absence de l’isoforme-b de l’usherine n’a, en fait, que très peu de conséquences morphologiques et fonctionnelles sur la touffe ciliaire des cellules ciliées de la cochlée durant les 3 ou 4 premiers mois de vie chez la souris. A partir de l’âge de 4 mois cependant, les souris Ush2aΔTM/ΔTM souffrent d’une perte progressive de l’audition et d’anomalies de la sélectivité dans l’analyse des fréquences du son, dues surtout à un dysfonctionnement des cellules ciliées externes. Ces résultats viennent alimenter le débat sur le caractère progressif de la surdité du syndrome d’Usher de type 2A. La surdité des patients USH2A est considérée comme étant le plus souvent non progressive, mais plusieurs études ont révélé que certains patients souffrent en fait d’une surdité progressive. Mon travail a permis de montrer que chez la souris, la surdité en rapport avec des mutations d’Ush2a peut également être progressive. L’existence potentielle d’une fenêtre temporelle chez les patients USH2A dont la surdité moins sévère à la naissance, va ensuite s’aggraver, pourrait permettre d’envisager dans le futur un traitement curatif précoce du déficit auditif de ces patients, par thérapie génique
Usher syndrome (USH) is characterised by a sensorineural congenital deafness and a progressive loss of vision by retinitis pigmentosa. During my PhD, my main focus of study was a gene responsible for Usher syndrome type 2, USH2A. This gene codes for usherin, a protein associated with the fibrous links located at the base of the hair bundle of cochlear, and vestibular hair cells. In mice, these transitory links start to disappear as of postnatal day 9 (P9), and the molecular complex with which they are associated is composed of usherin, adgrv1 (an adhesion G protein coupled receptor), whirlin, and pdzd7 (two submembranous PDZ domain-containing scaffold proteins). Previous work has shown that the interaction in between these 4 proteins is essential for the development of the hair bundle, the structure responsible for the initiation of the mechano-electrical transduction (MET) process in the hair cells. During my thesis, I studied the short term and long term effects of the absence of the longest of the 2 usherin isoforms, the transmembrane b-isoform, in mice carrying a mutation in the Ush2a gene (Ush2aΔTM/ΔTM). In these mice, I measured mechano-electrical currents, auditory brainstem responses, undertook auditory masking tests, and analysed scanning electron micrographs of cochlear hair bundles. Through this work, I showed that basal lateral links similar to ankle links could be observed on P4, and that MET currents were normal on P7. The absence of the long b-isoform of usherin actually has very little effect on the morphology or the function of the cochlear hair bundle in mice, until 3 or 4 months of age. As of 4 months old however, Ush2aΔTM/ΔTM mice suffer from a progressive hearing loss, and frequency selectivity defects, mainly cause by a dysfunction of outer hair cells. These results will further add to the debate on whether the hearing loss in Usher syndrome type 2A is progressive or not. Hearing loss in USH2A patients is generally considered non progressive, but several studies have given indication to the contrary. My work has shown that in mice, deafness caused by mutations to the Ush2a gene can also follow a progressive pattern. The potential existence of this temporal window in USH2A patients whose hearing impairment is less severe at birth, but gets worse over time, could allow clinicians to use gene therapy as curative treatment for patients who fall into this category
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Fang, Fang. "Gain-of-function mutations in SCN5A gene lead to type-3 long QT syndrome". Cleveland State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=csu1354056382.

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Huang, Hai. "Biophysical Characterization of Three SCN5A Mutations Linked to Long QT Syndrome Type 3, Sudden Infant Death Syndrome, and Atrial Fibrillation". Thesis, Université Laval, 2010. http://www.theses.ulaval.ca/2010/27250/27250.pdf.

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Hirose, Sayako. "Propranolol Attenuates Late Sodium Current in a Long QT Syndrome Type 3-Human Induced Pluripotent Stem Cell Model". Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/265195.

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DELL'AQUILA, FABIO. "GENE THERAPY FOR GYRATE ATROPHY OF CHOROID AND RETINA AND FOR USH1B RETINITIS PIGMENTOSA". Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/884458.

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Inherited Retinal Diseases (IRDs) represent a major cause of blindness worldwide. Adeno-associated viral (AAV) vector-based gene therapies represent the most promising treatments. We aimed to develop gene therapies for gyrate atrophy of the choroid and retina (GA) and Usher syndrome type 1B (USH1B) retinitis pigmentosa. GA is characterized by ornithine aminotransferase [OAT, coding sequence (CDS) ∽1.3 Kb] deficiency. We demonstrated in vitro expression and activity of 3XFlag-tagged human OAT (hOAT-3XFlag). AAV vector carrying the hOAT-3XFlag expression cassette improved the structural retinal defects in the Oat-/- mouse model of GA. Bi-allelic mutations in the Myosin7A gene (MYO7A) (CDS ∽6.7 Kb) cause USH1B, the most common combination of inherited congenital deafness and blindness. We demonstrated effective delivery and expression of MYO7A in mice and pigs using dual AAV vectors. During AAV manufacturing, we found a contaminant vector resulting from recombination between two homologous sequences in the AAV vector containing the 5’ half of hMYO7A. This was removed by changing one of the two sequences while maintaining the same MYO7A expression levels in vivo. We selected three therapeutic doses of dual AAV-hMYO7A that rescue retinal defects in shaker-1 mice, a mouse model of USH1B. These doses will be translated in patients with USH1B. In the same mouse model, we confirmed biological potency of dual AAV-hMYO7A that will be used in the clinical trial. Overall, these studies offer promising results, paving the way for a gene therapy of GA and for the clinical translation of dual AAV vectors in USH1B subjects.
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Libros sobre el tema "Usher syndrome type 3"

1

The madness of Usher's: Coping with vision and hearing loss (Usher syndrome type II). Corpus Christi, Tex: Business of Living Publications, 1991.

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Robey, Seth Hamilton. Mechanisms of Mutation-Specific Inhibition of Late Na+ Current in Long QT Syndrome Type 3. [New York, N.Y.?]: [publisher not identified], 2017.

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J, Carlson-Newberry Sydne, Southern California Evidence-Based Practice Center/RAND. y United States. Agency for Healthcare Research and Quality., eds. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. Rockville, MD: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services, 2004.

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United States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.

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United States. Agency for Healthcare Research and Quality, ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.

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United States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.

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United States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.

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Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.

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US GOVERNMENT. Effects of Omega-3 Fatty Acids on Lipids and Glycemic Control in Type II Diabetes and the Metabolic Syndrome and on Inflammatory Bowel Disease, Rheuma (Ahrq Publication). Agency for Healthcare Research and Quality, 2004.

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Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.

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Capítulos de libros sobre el tema "Usher syndrome type 3"

1

Ayyagari, Radha, Anren Li, Ann Nestorowicz, Yan Li, Richard J. H. Smith, M. Alan Permutt y J. Fielding Hejtmancik. "Usher Syndrome Type 1C". En Degenerative Retinal Diseases, 303–12. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-5933-7_33.

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Schell, Jonathan. "Usher Syndrome". En Encyclopedia of Ophthalmology, 1–3. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-35951-4_135-3.

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Schell, Jonathan. "Usher Syndrome". En Encyclopedia of Ophthalmology, 1870–72. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_135.

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Rappold, Gudrun, John-John B. Schnog, Victor E. A. Gerdes, Yvonne G. Weber, Jose M. Serratosa, Anna-Elina Lehesjoki, Alessandra Baumer et al. "Usher Syndrome". En Encyclopedia of Molecular Mechanisms of Disease, 2154–55. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1811.

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Ayyagari, Radha, Richard J. H. Smith, Elizabeth C. Lee, William J. Kimberling, Marcelle Jay, Alan Bird y J. Fielding Hejtmancik. "Heterogeneity of Usher Syndrome Type I". En Retinal Degeneration, 127–33. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-2974-3_12.

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Tsang, Stephen H., Alicia R. P. Aycinena y Tarun Sharma. "Ciliopathy: Usher Syndrome". En Advances in Experimental Medicine and Biology, 167–70. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95046-4_32.

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Williams, David S. y Vanda S. Lopes. "Gene Therapy Strategies for Usher Syndrome Type 1B". En Retinal Degenerative Diseases, 235–42. Boston, MA: Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_31.

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Bork, J. M., R. J. Morell, S. Khan, S. Riazuddin, E. R. Wilcox, T. B. Friedman y A. J. Griffith. "Clinical Presentation of DFNB12 and Usher Syndrome Type 1D". En Advances in Oto-Rhino-Laryngology, 145–52. Basel: KARGER, 2002. http://dx.doi.org/10.1159/000066829.

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Nagel-Wolfrum, Kerstin, Timor Baasov y Uwe Wolfrum. "Therapy Strategies for Usher Syndrome Type 1C in the Retina". En Retinal Degenerative Diseases, 741–47. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-3209-8_93.

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Grant, Struan F. A. "Genetics of Type 2 Diabetes". En Metabolic Syndrome, 141–57. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-11251-0_11.

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Actas de conferencias sobre el tema "Usher syndrome type 3"

1

Subasri, Vallijah, Nicholas Light, Benjamin Brew, Nathaniel Anderson, Adam Shlien, Anna Goldenberg y David Malkin. "Abstract 1639: Predictive modeling of cancer-type in Li-Fraumeni syndrome". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1639.

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Subasri, Vallijah, Nicholas Light, Benjamin Brew, Nathaniel Anderson, Adam Shlien, Anna Goldenberg y David Malkin. "Abstract 1639: Predictive modeling of cancer-type in Li-Fraumeni syndrome". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1639.

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Ahmed, MI, P. Jordan, M. Arora, M. Iqbal, S. Bandi y M. Prasad. "G399(P) Sturge weber syndrome type 3 masquerading as ‘migraine status’ at presentation". En Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 24–26 May 2017, ICC, Birmingham. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313087.392.

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Gochuico, Bernadette R., Heidi Dorward, Caroline Yeager, Blanca J. Gomez y William A. Gahl. "Galectin-3 Co-Localizes With EEA-1 In Type II Cells In Hermansky-Pudlak Syndrome Pulmonary Fibrosis". En American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a3498.

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Sahu, Satya Narayan, Biswajit Mishra, Rojalin Sahu y Chandana Mohanty. "Binding performance of Boerhavia Diffusa plant extracts targeting mutant PLCE1 gene in type 3 nephrotic syndrome: A molecular docking approach". En 2ND INTERNATIONAL CONFERENCE ON EMERGING SMART MATERIALS IN APPLIED CHEMISTRY (ESMAC-2021): ESMAC-2021. AIP Publishing, 2023. http://dx.doi.org/10.1063/5.0127424.

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Silva, Bruno Custódio, Gisele Delazeri, Ana Luíza Kolling Konopka, Giulia Righetti Tuppini Vargas, Paulo Ricardo Gazzola Zen y Rafael Fabiano Machado Rosa. "Report of a family affected by fragile X syndrome and type 1 diabetes mellitus". En XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.076.

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Context: The fragile X syndrome is characterized by intellectual deficit and some physical characteristics, which become more evident during growth, especially craniofacial and macroorchidism. Case report: A 22 year-old male patient with diabetes mellitus type 1 (DM1) diagnosed at 7 years of age is following-up with ophthalmology due to low visual acuity. On physical exam, he did not maintain eye contact and performed repetitive movements. In addition, he had an elongated face and upward slanting eyelid clefts, a high palate and prognathism, large and prominent ears. In the family history, 3 of his siblings, one male and two female, also had intellectual deficit, and two of them had concomitant DM1. One brother had only DM1 and the other none of the diseases. The parents had consanguinity (they were cousins in the 3rd degree). The patient’s karyotype, using the chromosomal breaks technique after cultivation in medium-low folic acid, showed the presence of fragility on the X chromosome in the region q27.3 [46, XY, fra (x) (q27.3)], compatible with the diagnosis of fragile X syndrome. This result was confirmed using the PCR-multiplex technique. Conclusions: In this family, the concomitant presence in several individuals of the fragile X syndrome and DM1 stands out. However, although both conditions are not related, they are frequent, which could justify their simultaneous occurrence.
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Pinto, Icaro França Navarro, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina Souza Jorge et al. "Oculogyric Crisis in a patient with PURA Syndrome". En XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.121.

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Context: PURA syndrome is a neurodevelopmental disorder characterized by neonatal hypotonia, delayed psychomotor development, early-onset feeding difficulties and an epileptic encephalopathy. Case Report: A 3-month-old Brazilian boy presented with severe neonatal hypotonia associated with feeding difficulties due to serious dysphagia requiring nasoenteral tube feeding. Excessive drowsiness, poor social interaction and repetitive episodes of involuntary abnormal upward eye movements and ocular version with short duration were also reported by parents. Neurological examination revealed severe axial and upper limb hypotonia, orofacial dyskinetic movements and episodes of abnormal eye movements with upward ocular deviation with less than 30 seconds in duration compatible with oculogyric crisis. It was performed Whole-Exome sequencing and it was identified a new pathogenic variant in PURA gene that establisehd the final diagnosis of PURA Syndrome or Autosomal Dominant Mental Retardation type 31, MDR 31 (OMIM #616158). Conclusions: PURA Syndrome emerges as one of the major differential diagnoses of neonatal hypotonia and in addition, we can consider the early manifestation of oculogyric crisis as a phenotypic expansion of the syndrome, making its diagnosis even more challenging, since epileptic encephalopathies and neurotransmitter deficiency-related diseases present with a similar clinical course.
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Rosborough, B. R., Y. Jiang, J. Chen, G. Kitsios, B. J. McVerry, A. Ray, W. Chen y P. Ray. "Single Cell RNA Sequencing Identifies Type I Interferon Signaling and Reduced Suppressor of Cytokine Signaling 3 Expression in Monocytes of Acute Respiratory Distress Syndrome Patients". En American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a6541.

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Nobrega, Gabriela Bezerra, Marina Bellatti Küller, Gabriela Marçal Rios, Jonathan Yugo Maesaka y José Roberto Filassi. "Follow-up of a Li-Fraumeni syndrome case". En Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1062.

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Introduction: Li-Fraumeni syndrome (LFS) is responsible for about 1% of hereditary breast cancers (BC). We present a case report of a young woman with synchronous osteosarcoma and BC. Case Report: NOB, 23 years old. Mother died with BC at 36 years old and sister died due to neuroblastoma at 2 years old. She was referred in 2021 for a nodule in her left breast and the ultrasound results showed an irregular nodule of 1.5×1.2×1.3 cm BI-RADS®5 and anatomopathological invasive carcinoma of non-special histological type (NST), estrogen receptor 80%, progesterone receptor 100%, Her2 negative, and Ki67 60% cT1N0. It was associated with a lesion in the alveolar mucosa with bleeding and deformity of the oral cavity with anatomopathological high histological osteosarcoma-T1N0. Surgical treatment was performed: maxillectomy of meso and bilateral infrastructure+tracheostomy+reconstruction with microsurgical flap of the fibula and, then, left adenomastectomy+sentinel lymph node biopsy+prosthesis reconstruction. Surgical anatomopathological results in central/medullary high-grade conventional osteosarcoma chondroblasts 7.3×6.1×3.9 cm, free surgical margins and four cervical lymph nodes free of neoplastic involvement, and invasive breast carcinoma NST with medullary characteristics 1.8×1.3 cm, free margins, and absence of metastasis in two sentinel lymph nodes –pT1pN0. Genetic test resulted in pathogenic mutation TP53 gene, position chr17:7.674.257, consequence p.Tyr236HisENST00000269305. Adjuvant chemotherapy was docetaxel+cyclophosphamide. Two years after treatment, she is taking tamoxifen, scheduled for contralateral adenomastectomy, and maintains high-risk follow-up. There is no signal of any cancer disease. Discussion: LFS is an autosomal dominant inheritance of high penetrance. The diagnosis is based on the identification of a pathogenic variant in the TP53 gene. It is related to several tumors diagnosed at an early age. BC is the most common cancer and affects 27–31% of patients. Osteosarcoma corresponds to 3%–16% of cases, usually occurring before the age of 30 years. The prognosis of patients does not differ from those with sporadic cancer. They must be monitored by a multidisciplinary team, screening with annual whole body/breast MRI and mammography, and colonoscopy every 5 years. Genetic counseling is essential.
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Gyoneva, Lazarina, Mohammad F. Hadi, Yoav Segal, Kevin D. Dorfman y Victor H. Barocas. "Role of Lateral Interactions in Type IV Collagen Network Mechanics". En ASME 2013 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/sbc2013-14625.

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The basement membrane is a specialized part of the extra-cellular matrix. It is usually characterized as a scaffold for epithelial cells but in some tissues it serves other, mechanical, roles [1]. The mechanical properties of the basement membrane are mainly determined by one of its main constituents — type IV collagen. Unlike the well-known fibrous type I collagen, collagen IV assembles into planar networks (Fig. 1) [2]. The α 1(IV) and α 2(IV) collagen IV chains assemble into the so-called major chain network, present in all basement membranes. The α 3(IV), α 4(IV), α 5(IV) collagen IV chains form the minor chain network which is found only in the adult basement membranes of the kidney glomerular capillaries (GBM), ocular lens (LBM), cochlea, and the testes [3]. The minor chains have a higher number of cysteine residues, allowing them to form a higher number of lateral interactions. In the minor chain network, the greater potential to interact laterally manifests in the formation of super-coils, which are rarely observed in the major chain network [4]. Increasing the number of cross-links in a polymeric material is known to increase material stiffness; therefore, it is believed that the minor chain network confers basement membranes with additional strength and stability [5]. In the hereditary disease Alport syndrome, a mutation causes the absence of the minor chain network. The GBM and LBM of Alport patients appear weakened and unable to meet their mechanical demands, further supporting this theory [6]. The objective of this study was to evaluate the importance of cross-linking in the minor chains for the mechanical properties of type IV collagen networks, specifically in the GBM and LBM where the absence of the minor chains has an observed mechanical effect.
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Informes sobre el tema "Usher syndrome type 3"

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YARIKOV, A. V. y I. I. SMIRNOV. EXPERIENCE OF DENERVATION OF INTERVERTEBRAL JOINTS OF THE LUMBAR SPINE. Science and Innovation Center Publishing House, abril de 2022. http://dx.doi.org/10.12731/978-0-615-67340-0-1.

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In this work, the immediate and long-term results of denervation of intervertebral joints in 30 patients with pain syndrome in the lumbar spine were studied. The catamnesis was collected from 18 patients in terms from 1.7 months to 18 months after surgery. Pain syndrome on a visually analog scale after surgery decreased by an average of 20-30 mm. Subclinically expressed anxiety/depression persists in all patients with a “good” result of treatment, the assessment was carried out using the hospital Anxiety and Depression Scale (HADS). According to the Nurick scale, treatment results were assessed at level 2 (improvement) in 93.3% of cases (n=28), level 3 (unchanged condition) - 6.7% of cases (n=2). According to the results of the study, denervation of the intervertebral joints is an effective minimally invasive method of treating facet syndrome. It allows in the early and long-term postoperative periods to significantly reduce the pain syndrome and improve the quality of life of patients. The authors also admit that the pain syndrome in the back is polyethological, which requires careful selection of patients for this type of procedure.
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Xin, Yuning, Hongyu Li, Gungyu Cheng, Junfeng Cui, Yinghui Liu, Aidong Liu, Xiaolin Xu, Pengfei Li y Huize Han. Evaluation of the Effectiveness and Safety of Acupuncture in the Treatment of Cervicogenic Hypertension A Protocol for Systematic Review and Meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, diciembre de 2022. http://dx.doi.org/10.37766/inplasy2022.12.0036.

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Review question / Objective: The purpose of this study is to explore the efficacy and safety of acupuncture in the treatment of patients with cervicogenic hypertension，Through scientific verification, it provides clinicians with application reference and provides more choices for patients to solve pain. Patients included should have a clear diagnosis of cervicogenic hypertension(In the absence of antihypertensive drugs, blood pressure was measured 3 times a day, systolic blood pressure ≥ 140 mmHg and/or diastolic blood pressure ≥ 90 mmHg; or a clear history of hypertension and Diagnosis of cervical spondylosis using computed tomography, magnetic resonance imaging, and other imaging methods)；The intervention group received acupuncture treatment alone or acupuncture combined with treatment by Chinese herbal medicine or conventional Western medicine; The control group was a blank control group, a placebo group, a fake acupuncture group or received treatment only through conventional Western medicine； The Inclusion criteria of study type was an RCT; The outcomes of the main analyses were efficacy of clinical symptoms，systolic blood pressure value，Diastolic blood pressure value；Secondary outcome indicators were Traditional Chinese Medicine syndrome curative effects, Traditional Chinese Medicine syndrome scores,and adverse reactions.
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Chou, Roger, Rongwei Fu, Tracy Dana, Miranda Pappas, Erica Hart y Kimberly M. Mauer. Interventional Treatments for Acute and Chronic Pain: Systematic Review. Agency for Healthcare Research and Quality (AHRQ), septiembre de 2021. http://dx.doi.org/10.23970/ahrqepccer247.

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Objective. To evaluate the benefits and harms of selected interventional procedures for acute and chronic pain that are not currently covered by the Centers for Medicare & Medicaid Services (CMS) but are relevant for and have potential utility for use in the Medicare population, or that are covered by CMS but for which there is important uncertainty or controversy regarding use. Data sources. Electronic databases (Ovid® MEDLINE®, PsycINFO®, the Cochrane Central Register of Controlled Trials, and the Cochrane Database of Systematic Reviews) to April 12, 2021, reference lists, and submissions in response to a Federal Register notice. Review methods. Using predefined criteria and dual review, we selected randomized controlled trials (RCTs) for 10 interventional procedures and conditions that evaluated pain, function, health status, quality of life, medication use, and harms. Random effects meta-analysis was conducted for vertebral compression fracture; otherwise, outcomes were synthesized qualitatively. Effects were classified as small, moderate, or large using previously defined criteria. Results. Thirty-seven randomized trials (in 48 publications) were included. Vertebroplasty (13 trials) is probably more effective at reducing pain and improving function in older (>65 years of age) patients, but benefits are small (less than 1 point on a 10-point pain scale). Benefits appear smaller (but still present) in sham-controlled (5 trials) compared with usual care controlled trials (8 trials) and larger in trials of patients with more acute symptoms; however, testing for subgroup effects was limited by imprecision. Vertebroplasty is probably not associated with increased risk of incident vertebral fracture (10 trials). Kyphoplasty (2 trials) is probably more effective than usual care for pain and function in older patients with vertebral compression fracture at up to 1 month (moderate to large benefits) and may be more effective at >1 month to ≥1 year (small to moderate benefits) but has not been compared against sham therapy. Evidence on kyphoplasty and risk of incident fracture was conflicting. In younger (below age for Medicare eligibility) populations, cooled radiofrequency denervation for sacroiliac pain (2 trials) is probably more effective for pain and function versus sham at 1 and 3 months (moderate to large benefits). Cooled radiofrequency for presumed facet joint pain may be similarly effective versus conventional radiofrequency, and piriformis injection with corticosteroid for piriformis syndrome may be more effective than sham injection for pain. For the other interventional procedures and conditions addressed, evidence was too limited to determine benefits and harms. Conclusions. Vertebroplasty is probably effective at reducing pain and improving function in older patients with vertebral compression fractures; benefits are small but similar to other therapies recommended for pain. Evidence was too limited to separate effects of control type and symptom acuity on effectiveness of vertebroplasty. Kyphoplasty has not been compared against sham but is probably more effective than usual care for vertebral compression fractures in older patients. In younger populations, cooled radiofrequency denervation is probably more effective than sham for sacroiliac pain. Research is needed to determine the benefits and harms of the other interventional procedures and conditions addressed in this review.
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