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https://www.readbyqxmd.com/read/28713423/discovering-the-unexpected-with-the-utilization-of-ngs-in-diagnostics-of-non-syndromic-hearing-loss-disorders-the-family-case-of-ildr1-dependent-hearing-loss-disorder
#1
Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Saba Battelino
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifesting as heterogeneous pre-lingual profound to severe non-progressive clinical phenotype. ILDR1-dependent ARNSHL (DFNB42, OMIM: # 609646) is a very rare sub-type of hearing disability, with unknown prevalence, caused by function-damaging genetic variants in ILDR1 gene reported in families of Middle-Eastern origin...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28702978/the-evolution-of-artificial-hair-implantation
#2
M Agrawal, J Lotti, K França, M Fioranelli, M G Roccia, T Lotti
From the beginning, artificial hair implantation has aroused a lot of interest, sometimes controversial, in the field of hair restoration. The artificial fiber must be of high quality and biocompatible. Biofibre® is a very fine fiber having diameter of 80 m. The standard length of this fiber is 15 or 30 cm, to satisfy multiple patient requests. They are available in 13 colors and 3 different shapes (straight, wavy and curly). Artificial hair implant is indicated in all (male and female) cases of androgenetic alopecia, especially for those who show dismal response to medical therapies and have poor donor area supply for hair transplantation...
July 13, 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28689433/experimental-and-early-investigational-drugs-for-androgenetic-alopecia
#3
Hongwei Guo, Wendi Victor Gao, Hiromi Endo, Kevin John McElwee
Treatments for androgenetic alopecia constitute a multi-billion-dollar industry, however, currently available therapeutic options have variable efficacy. Consequently, in recent years small biotechnology companies and academic research laboratories have begun to investigate new or improved treatment methods. Research and development approaches include improved formulations and modes of application for current drugs, new drug development, development of cell-based treatments, and medical devices for modulation of hair growth...
July 12, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28688907/face-identity-recognition-in-simulated-prosthetic-vision-is-poorer-than-previously-reported-and-can-be-improved-by-caricaturing
#4
Jessica L Irons, Tamara Gradden, Angel Zhang, Xuming He, Nick Barnes, Adele F Scott, Elinor McKone
The visual prosthesis (or "bionic eye") has become a reality but provides a low resolution view of the world. Simulating prosthetic vision in normal-vision observers, previous studies report good face recognition ability using tasks that allow recognition to be achieved on the basis of information that survives low resolution well, including basic category (sex, age) and extra-face information (hairstyle, glasses). Here, we test within-category individuation for face-only information (e.g., distinguishing between multiple Caucasian young men with hair covered)...
July 14, 2017: Vision Research
https://www.readbyqxmd.com/read/28680501/methods-of-hearing-preservation-during-cochlear-implantation
#5
REVIEW
Ahmed Khater, Mohammad Waheed El-Anwar
Introduction  Recent advances in surgical techniques and electrode design have made residual hearing preservation during cochlear implantation (CI) possible, achievable, and desirable. Objectives  The objective of this study was to review the literature regarding methods used for hearing preservation during CI surgery. Data Synthesis  We performed a search in the LILACS, MEDLINE, SciELO, PubMed databases, and Cochrane Library, using the keywords CI, hearing preservation, CI electrode design, and CI soft surgery...
July 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28672008/nanofibrous-scaffolds-for-the-guidance-of-stem-cell-derived-neurons-for-auditory-nerve-regeneration
#6
Sandra Hackelberg, Samuel J Tuck, Long He, Arjun Rastogi, Christina White, Liqian Liu, Diane M Prieskorn, Ryan J Miller, Che Chan, Benjamin R Loomis, Joseph M Corey, Josef M Miller, R Keith Duncan
Impairment of spiral ganglion neurons (SGNs) of the auditory nerve is a major cause for hearing loss occurring independently or in addition to sensory hair cell damage. Unfortunately, mammalian SGNs lack the potential for autonomous regeneration. Stem cell based therapy is a promising approach for auditory nerve regeneration, but proper integration of exogenous cells into the auditory circuit remains a fundamental challenge. Here, we present novel nanofibrous scaffolds designed to guide the integration of human stem cell-derived neurons in the internal auditory meatus (IAM), the foramen allowing passage of the spiral ganglion to the auditory brainstem...
2017: PloS One
https://www.readbyqxmd.com/read/28649555/autosomal-dominant-carvajal-plus-syndrome-due-to-the-novel-desmoplakin-mutation-c-1678a%C3%A2-%C3%A2-t-p-ile560phe
#7
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone
BACKGROUND: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, or plakophilin-2 gene. METHODS AND RESULTS: We report a family with Carvajal syndrome which additionally presented with hypoacusis, noncompaction, recurrent pharyngeal infections, oligodontia, and recurrent diarrhoea...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28573831/auditory-and-otologic-profile-of-alstr%C3%A3-m-syndrome-comprehensive-single-center-data-on-38-patients
#8
Spencer Lindsey, Carmen Brewer, Olga Stakhovskaya, Hung Jeffrey Kim, Chris Zalewski, Joy Bryant, Kelly A King, Jürgen K Naggert, William A Gahl, Jan D Marshall, Meral Gunay-Aygun
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed AS. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7...
June 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28532627/regenerative-medicine-in-hearing-recovery
#9
REVIEW
Edi Simoni, Giulia Orsini, Milvia Chicca, Simone Bettini, Valeria Franceschini, Alessandro Martini, Laura Astolfi
Hearing loss, or deafness, affects 360 million people worldwide of which about 32 million are children. Deafness is irreversible when it involves sensory hair cell death because the regenerative ability of these cells is lost in mammals after embryo development. The therapeutic strategies for deafness include hearing aids and/or implantable devices. However, not all patients are eligible or truly benefit from these medical devices. Regenerative medicine based on stem cell application could play a role in both improvement of extant medical devices and in vivo recovery of auditory function by regeneration of inner ear cells and neurons...
May 19, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28502649/post-implantation-development-of-red-rumped-agouti-dasyprocta-leporina-linnaeus-1758
#10
Gleidson Benevides de Oliveira, Hélio Noberto de Araújo Júnior, Herson da Silva Costa, Alexandre Rodrigues Silva, Carlos Eduardo Bezerra de Moura, Hugo Alexandre de Oliveira Rocha, Maria Angélica Miglino, Moacir Franco de Oliveira
Fourteen pregnant agouti (Dasyprocta leporina Linnaeus, 1758) females at gestational ages of 30-100days and two at gestational ages of 55-100days, were studied, including 24 embryos/fetuses and two neonates (single offspring from two females). Females were euthanized and embryos/fetuses were examined, measured, and photographed. Embryos at 30days post-copulation were "C-shaped," with paddle-shaped limb buds and 10.75±0.11mm crown-rump length (CRL). In embryos at 35days post-copulation, paddle-shaped forelimbs, fin-shaped pelvic limbs, and a liver bud were evident, with 15...
May 2, 2017: Animal Reproduction Science
https://www.readbyqxmd.com/read/28499298/-cochlear-implant-state-of-the-art
#11
Thomas Lenarz
Cochlear implants are the treatment of choice for the auditory rehabilitation of patients with sensory deafness. They restore the missing function of inner hair cells by transforming the acoustic signal into electrical stimuli for activation of auditory nerve fibers. Due to the very fast technology development cochlear implants provide open-set speech understanding in the majority of patients including the use of the telephone. Children can achieve a near to normal speech and language development provided their deafness is detected early after onset and implantation is performed quickly thereafter...
April 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28498269/real-time-intracochlear-electrocochleography-obtained-directly-through-a-cochlear-implant
#12
Michael S Harris, William Jason Riggs, Kanthaiah Koka, Leonid M Litvak, Prashant Malhotra, Aaron C Moberly, Brendan P O'Connell, Jourdan Holder, Federico Alberto Di Lella, Carlos Mario Boccio, George B Wanna, Robert F Labadie, Oliver F Adunka
HYPOTHESIS: Utilizing the cochlear implant to record electrophysiologic responses during device placement is a feasible and efficacious technique for monitoring near real-time cochlear physiology during and following electrode insertion. BACKGROUND: Minimizing intracochlear trauma during cochlear implantation has emerged as a highly researched area to help improve patient performance. Currently, conventional cochlear implant technology allows for the recording of electrically evoked compound action potentials (eCAPs)...
July 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28498265/the-effect-of-systemic-steroid-on-hearing-preservation-after-cochlear-implantation-via-round-window-approach-a-guinea-pig-model
#13
Mun Young Chang, Yoon Chan Rah, Jun Jae Choi, Shin Wook Woo, Yu-Jung Hwang, Hayden Eastwood, Stephen J O'Leary, Jun Ho Lee
HYPOTHESIS: When administered perioperatively, systemic dexamethasone will reduce the hearing loss associated with cochlear implantation (CI) performed via the round window approach. BACKGROUND: The benefits of electroacoustic stimulation have led to interest in pharmacological interventions to preserve hearing after CI. METHODS: Thirty guinea pigs were randomly divided into three experimental groups: a control group; a 3-day infusion group; and a 7-day infusion group...
August 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28469553/intracochlear-recordings-of-acoustically-and-electrically-evoked-potentials-in-nucleus-hybrid-l24-cochlear-implant-users-and-their-relationship-to-speech-perception
#14
Jae-Ryong Kim, Viral D Tejani, Paul J Abbas, Carolyn J Brown
The Hybrid cochlear implant (CI) has been developed for individuals with high frequency hearing loss who retain good low frequency hearing. Outcomes have been encouraging but individual variability is high; the health of the cochlea and the auditory nerve may be important factors driving outcomes. Electrically evoked compound action potentials (ECAPs) reflect the response of the auditory nerve to electrical stimulation while electrocochleography (ECochG) reflects the response of the cochlear hair cells and auditory nerve to acoustic stimulation...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28388970/contemporary-imaging-of-auditory-implants
#15
REVIEW
S E J Connor
There have been significant advances in the diversity and effectiveness of hearing technologies in recent years. Implanted auditory devices may be divided into those that stimulate the cochlear hair cells (bone conduction devices and middle ear implants), and those that stimulate the neural structures (cochlear implants and central auditory implants). Contemporary preoperative and postoperative imaging may be used to help individualise implant selection, optimise surgical technique and predict auditory outcome...
April 4, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28388662/scanning-laser-optical-tomography-for-in-toto-imaging-of-the-murine-cochlea
#16
Lena Nolte, Nadine Tinne, Jennifer Schulze, Dag Heinemann, Georgios C Antonopoulos, Heiko Meyer, Hans Gerd Nothwang, Thomas Lenarz, Alexander Heisterkamp, Athanasia Warnecke, Tammo Ripken
The mammalian cochlea is a complex macroscopic structure due to its helical shape and the microscopic arrangements of the individual layers of cells. To improve the outcomes of hearing restoration in deaf patients, it is important to understand the anatomic structure and composition of the cochlea ex vivo. Hitherto, only one histological technique based on confocal laser scanning microscopy and optical clearing has been developed for in toto optical imaging of the murine cochlea. However, with a growing size of the specimen, e...
2017: PloS One
https://www.readbyqxmd.com/read/28387239/survival-of-human-embryonic-stem-cells-implanted-in-the-guinea-pig-auditory-epithelium
#17
Min Young Lee, Sandra Hackelberg, Kari L Green, Kelly G Lunghamer, Takaomi Kurioka, Benjamin R Loomis, Donald L Swiderski, R Keith Duncan, Yehoash Raphael
Hair cells in the mature cochlea cannot spontaneously regenerate. One potential approach for restoring hair cells is stem cell therapy. However, when cells are transplanted into scala media (SM) of the cochlea, they promptly die due to the high potassium concentration. We previously described a method for conditioning the SM to make it more hospitable to implanted cells and showed that HeLa cells could survive for up to a week using this method. Here, we evaluated the survival of human embryonic stem cells (hESC) constitutively expressing GFP (H9 Cre-LoxP) in deaf guinea pig cochleae that were pre-conditioned to reduce potassium levels...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28386212/characterizing-electrocochleography-in-cochlear-implant-recipients-with-residual-low-frequency-hearing
#18
Christofer W Bester, Luke Campbell, Adrian Dragovic, Aaron Collins, Stephen J O'Leary
Objective: Lay the groundwork for using electrocochleography (ECochG) as a measure of cochlear health, by characterizing typical patterns of the ECochG response observed across the electrode array in cochlear implant recipients with residual hearing. Methods: ECochG was measured immediately after electrode insertion in 45 cochlear implant recipients with residual hearing. The Cochlear Response Telemetry system was used to record ECochG across the electrode array, in response to 100- or 110-dB SPL pure tones at 0...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28381734/implant-supported-oral-rehabilitation-in-child-with-ectodermal-dysplasia-4-year-follow-up
#19
Thaisa Cezária Triches, Marcos Ximenes, João Gustavo Oliveira de Souza, Armando Rodrigues Lopes Pereira Neto, Antônio Carlos Cardoso, Michele Bolan
Ectodermal dysplasia (ED) is an anomaly determined by genetic factors that alter ectodermal structures such as skin, hair, nails, glands, and teeth. Children affected by this condition require extensive, comprehensive, and multidisciplinary treatment. An 8-year-old female patient visited the Dentistry Clinic of the Federal University of Santa Catarina with the chief complaint of multiple missing teeth. The mother reported that the patient had ED. Clinical and radiographic examination revealed the congenital absence of several primary and permanent teeth and tooth germs...
2017: Bulletin of Tokyo Dental College
https://www.readbyqxmd.com/read/28352608/an-innovative-scalp-dyeing-technique-with-gentian-violet-solution-during-follicular-unit-extraction-for-white-haired-follicular-units
#20
Min Seon Moon, Jong Pil Choi
There exist some restrictions and difficulties in performing follicular unit extraction (FUE) in white-haired patients, for several reasons. In this paper, we introduce a novel technique for visualizing white hair during the punching procedure and graft preparation in FUE for white-haired patients. In white-haired older male patients, we dyed the surrounding scalp skin purple with a gentian violet solution-stained toothpick. Our method has several advantages: surgeons can easily focus on the center of the follicular unit and rapidly perform punching, they can recognize the condition of the harvested follicular units during FUE, and the hair transplant team can secure a clear view for trimming and loading into the implanter...
March 2017: Archives of Plastic Surgery
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