Results 71 to 80 of about 55,611 (300)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Functional Consequences of Poor Binaural Hearing in Development: Evidence From Children With Unilateral Hearing Loss and Children Receiving Bilateral Cochlear Implants

Trends in Hearing, 2021
Poor binaural hearing in children was hypothesized to contribute to related cognitive and academic deficits. Children with unilateral hearing have normal hearing in one ear but no access to binaural cues.
Claire McSweeny, Sharon L. Cushing, Jennifer L. Campos, Blake C. Papsin, Karen A. Gordon   +4 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Demographic Profile of Hearing Deficiency in a peripheral referral hospital- A Five Year Study

Bengal Journal of Otolaryngology and Head Neck Surgery, 2019
Introduction: This present study is an attempt to study the demographic characteristics of individuals presenting with hearing loss in a peripheral tertiary care hospital using the available database of pure tone audiometry results.
Amit Chakrabarti, Indranil Sen, Rupam Sinha, Manish Kumar, Rabi Hembrom, Satadal Mandal, Amit Bikram Maiti   +6 more
doaj   +3 more sources

IDIOPATHIC BILATERAL SENSORINEURAL HEARING LOSS

Nippon Jibiinkoka Gakkai Kaiho, 1993
In a series of 127 patients with idiopathic bilateral sensorineural hearing loss (IBSH) at the Hearing Clinic in the Department of Otolaryngology, Kitasato University Hospital, 20 cases showed rapid progression of hearing impairment. These patients had been treated with the same therapeutic regimen used in sudden deafness (S.D.). Improvement of hearing
MASATOSHI HIRAYAMA, TETSUYA SHITARA, MAKITO OKAMOTO, HAJIME SANO, SHINITI FURUSAWA   +4 more
openaire   +2 more sources

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

Acute reversible bilateral hearing loss after retrobulbar anesthesia

, 2023
This is the first reported case who had bilateral reversible hearing loss after regional anesthesia (RA) without a procedural sedoanalgesia. Furthermore, 20% lipid emulsion infusion (LEI) was first used in the treatment of a patient with hearing loss as ...
Gündüz, Gamze Ucan, Doğanay, Selim, Kibriştioğlu, Mehmet Ömer   +2 more
core   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Temporary bilateral sensorineural hearing loss following cardiopulmonary bypass -A case report- [PDF]

Korean Journal of Anesthesiology, 2011
Sudden sensorineural hearing loss has been reported to occur following anesthesia and various non-otologic surgeries, mostly after procedures involving cardiopulmonary bypass.
Hyo Jung Son, Jung Hwa Joh, Wook Jong Kim, Ji Hyun Chin, Dae Kee Choi, Eun Ho Lee, Ji Yeon Sim, In-Cheol Choi   +7 more
doaj   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source