Results 61 to 70 of about 5,927 (293)

Comparative anatomy of the middle ear ossicles of extant hominids – Introducing a geometric morphometric protocol [PDF]

, 2016
The presence of three interconnected auditory ossicles in the middle ear is a defining characteristic of mammals, and aspects of ossicle morphology are related to hearing sensitivity.
Stoessel, A, Gunz, P, David, R., David, R, Stoessel, A. ; https://orcid.org/, Spoor, F, Spoor, F., Gunz, P. ; https://orcid.org/   +7 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Preoperative Predictors and Ossicular Involvement in Chronic Otitis Media [PDF]

International Journal of Scientific Research in Dental and Medical Sciences
Background and aim: Ossicular chain disease may occur in chronic otitis media (COM). Certain preoperative factors can predict this ossicular disruption, which can be confirmed intraoperatively and can prognosticate the surgical outcome in COM.
Mohan Ananthula, Soumya Singh
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

A Study of Ossiculoplasty in Chronic Otitis Media using different types of Prostheses

Bengal Journal of Otolaryngology and Head Neck Surgery, 2013
Introduction: A wide range of prostheses, autologus and synthetic are available for use these days. Ideally, the ossicular reconstruction prosthesis should be biocompatible, safe, easy to handle and capable of efficient sound transmission.
Parthapratim Laha, B. K. Prasad
doaj  

Effect of cochlear implant electrode insertion on middle-ear function as measured by intra-operative laser Doppler vibrometry

, 2009
Hypothesis: The aim of this study was to investigate the impact of cochlear implant electrode insertion on middle-ear low frequency function in humans.Background: Preservation of residual low frequency hearing with addition of electrical speech ...
Donnelly, N, O'Connor, AF, Bibas, A, Jeronimidis, G, Santulli, C, Bamiou, DE, Jiang, D   +6 more
core  

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Early hominin auditory ossicles from South Africa [PDF]

, 2013
The middle ear ossicles are only rarely preserved in fossil hominins. Here, we report the discovery of a complete ossicular chain (malleus, incus, and stapes) of Paranthropus robustus as well as additional ear ossicles from Australopithecus africanus ...
Quam, Rolf, Arsuaga, Juan-Luis, Masali, Melchiorre, Moggi-Cecchi, Jacopo, Quama, Rolf M., Ignacio Mart��nez, Moggi Cecchii, Jacopo, Ignacio Martínez, Martínez Mendizábal, Ignacio, Ruiterd,, Darryl J. de, Arsuaga Ferreras, Juan Luis, Darryl J. de Ruiter   +11 more
core   +1 more source