Sensory System Changes

Cech, Donna J.

doi:10.1016/b978-1-4160-4978-4.00010-7

Cited by 3 publications

(2 citation statements)

References 137 publications

(106 reference statements)

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“…Considering the mild condition that only comprises the high-frequencies, it could be a case of presbycusis, which can begin as early as the third decade of life and for which a great number of risk factors, not only genetic, are at stake. 35 Indeed, the subject suffered from loud occupational noise exposure; therefore, the deafness in this case also could be noise-induced.…”

Section: Discussion Ush Phenocopiesmentioning

confidence: 93%

Expanding the Genetic Landscape of Usher-Like Phenotypes

Fuster-García

García‐García

Jaijo

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Usher syndrome (USH) is a rare disorder characterized by retinitis pigmentosa (RP) and sensorineural hearing loss. Several genes are responsible for the disease, but not all cases are explained by mutations in any of these, supporting the fact that there remain other unknown genes that have a role in the syndrome. We aimed to find the genetic cause of presumed USH patients lacking pathogenic mutations in the known USH genes. METHODS. Whole exome sequencing was performed on a priori USH-diagnosed subjects from nine unrelated families, which had shown negative results for an USH-targeted panel in a previous study. RESULTS. We identified possible pathogenic variants in six of the studied families. One patient harbored mutations in REEP6 and TECTA, each gene tentatively causative of one of the two main symptoms of the disease, mimicking the syndrome. In three patients, only the retinal degeneration causative mutations were detected (involving EYS, WDR19, and CNGB1 genes). Another family manifested a dementia-linked retinal dystrophy dependent on an allele dosage in the GRN gene. Last, another case presented a homozygous mutation in ASIC5, a gene not yet associated with USH. CONCLUSIONS. Our findings demonstrate that pending cases should be clinically and genetically carefully assessed, since more patients than expected may be either related phenocopies or affected by a more complex disease encompassing additional symptoms rather than classical USH.

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Section: Discussion Ush Phenocopiesmentioning

confidence: 93%

Expanding the Genetic Landscape of Usher-Like Phenotypes

Fuster-García

García‐García

Jaijo

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…Considering the mild condition that only comprises the high-frequencies, it could be a case of presbycusis, which can begin as early as the third decade of life and for which a great number of risk factors, not only genetic, are at stake (Cech and Martin 2012). Indeed, the subject suffered from loud occupational noise exposure; therefore, the deafness in this case also could be noise-induced.…”

Section: Referencesmentioning

confidence: 99%

Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome

García¹

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Gracias también a todo mi grupillo de Philly que tan rápida y cálidamente me recibieron en su cuadrilla. En especial a Berta y Álvaro, por allanarme tanto el camino; y a Alba y Vicky, que desde el primer minuto os desvivisteis por que aprovechara al máximo mi estancia. Many thanks to Dr. Hakonarson and all the CAG members for allowing me the opportunity to learn from such a proficient and nice team during those six months. No me olvido tampoco del resto de amigos que, sólo con interesarse por mi trabajo o darme apoyo moral, también me ayudado durante estos años. Y, por supuesto, gracias a mi familia. A mis abuelos, porque sé que muchas de mis capacidades las he heredado de ellos, y porque sé la enorme ilusión que les habría hecho ser partícipes de este momento. En especial, a mi abuelo Jesús, quien sembró mi interés por la investigación y a quien le hubiese entusiasmado saber que finalmente desarrollé su profesión platónica. A Adrián, mil gracias (y me quedo corta). Es una gran suerte poder compartir las ilusiones e inquietudes del gremio con mi compañero de vida y de vocación. Gracias por sacarme de tantos apuros, porque literalmente sin ti me habría estancado. Gracias por escucharme cuando he necesitado desahogarme, por animarme y aconsejarme, y por disfrutar con mis éxitos. Gracias, en suma, por ser mi cómplice en todo. Gracias, de manera muy profunda, a mis padres, a quienes dedico esta tesis. Por innumerables motivos que, a fin de cuentas y de forma desvirtuada, se reducen a una esencia: por apoyarme siempre en todo, por las oportunidades que me habéis dado, por educarme como lo habéis hecho, y por vuestro desmedido cariño. Porque si he llegado hasta aquí, ha sido por vosotros, y porque si soy quien soy, es por vosotros. Gracias papá, gracias mamá, por ser como sois. Finalmente, mi más sincera gratitud a todos los pacientes y sus familiares que han participado en los estudios. Al fin y al cabo, todo esto es por vosotros. Gracias por vuestra confianza. Quiero creer que nuestro empeño, si no el de otros, acabará traduciéndose en una solución.

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Hysteresis-Free Temperature Sensing with Printable Electronic Skins Made of Liquid Polyisoprene/CNTs

Selvan T,

Haridas C P,

Karmakar

et al. 2024

ACS Appl. Mater. Interfaces

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Developing an electronic skin (e-skin) is becoming popular due to its capability to mimic human skin’s ability to detect various stimuli. Mostly, such skins are tactile-based sensors. However, the exploration of nontactile-based sensing capability in the e-skin is still in a nascent stage. Herein, we report an approach toward developing electrical hysteresis- and cross-interference-free nontactile e-skin using liquid polyisoprene with an ultralow concentration of multiwalled carbon nanotubes (ϕ = 0.006 volume fraction) by leveraging the stencil printing technique. The impact of cross-linking the samples was studied. Uncross-linked samples demonstrated higher electrical conductivity than the cross-linked samples. A coarse-grained phenomenological model with molecular dynamics simulation was utilized to investigate filler network formation and percolation that dictate the conductivity of uncross-linked and cross-linked samples. Simulation studies supported the fidelity of the experimental findings. The uncross-linked e-skin demonstrated a higher temperature sensitivity (−1.103%/°C) than the cross-linked e-skin (−0.320%/°C) in the thermal conduction mode. Despite the superior sensitivity of the uncross-linked e-skin, the cross-linked systems demonstrated superior cyclic stability (35 thermal cycles), ensuring reliable sensor readings over extended usage. Judicious choice of encapsulant warranted the cross-linked e-skin sensor to nullify the impact of moisture on signal output, thereby providing cross-interference-free results. The optimized e-skin sample retained a similar thermal sensitivity even when used in the nontactile mode. From the application purview, the utility of the developed sensor was tested successfully for nontactile sensing of human body temperature. Additionally, the sensor was utilized to determine the respiratory profile by integrating the developed sensor into a wearable mask. This study advances nontactile e-skin-based sensing technology and opens new avenues for creating wearable and IoT devices for healthcare and human–machine interactions.

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Sensory System Changes

Cited by 3 publications

References 137 publications

Expanding the Genetic Landscape of Usher-Like Phenotypes

Expanding the Genetic Landscape of Usher-Like Phenotypes

Therapeutic approaches and development of genomic diagnostic tools for Usher syndrome

Hysteresis-Free Temperature Sensing with Printable Electronic Skins Made of Liquid Polyisoprene/CNTs

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