Results 61 to 70 of about 73,057 (270)

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 [PDF]

, 2015
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disease caused by mutation of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA).
Barozzi S, De Rocco D, Kunst H, Pecci A, Ryh\ue4nen S, Savoia A, Topsakal V, Verver E   +7 more
core   +1 more source

Sudden Sensorineural Hearing Loss Following Wasp Sting and Successful Treatment With Intratympanic Steroids

Clinical Medicine Insights: Case Reports, 2019
Objective: A sting by a Vespula vulgaris (wasp) should be considered as a cause of sudden sensorineural hearing loss. Although the mechanism of this cause is not well understood, management approach is similar to idiopathic sudden sensorineural hearing ...
Anwuli Anyah, Michael Visconti, James Spoto   +2 more
doaj   +1 more source

Postural control assessment in students with normal hearing and sensorineural hearing loss

Brazilian Journal of Otorhinolaryngology, 2015
INTRODUCTION: Children with sensorineural hearing loss can present with instabilities in postural control, possibly as a consequence of hypoactivity of their vestibular system due to internal ear injury.OBJECTIVE: To assess postural control stability in ...
Renato de Souza Melo, Andrea Lemos, Carla Fabiana da Silva Toscano Macky, Maria Cristina Falcão Raposo, Karla Mônica Ferraz   +4 more
doaj   +1 more source

Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss

Frontiers in Neurology, 2020
Hearing loss not only has a significant impact on the quality of life of patients and society, but its correlation with cognitive decline in an aging population will also increase the risk of incident dementia. While current management of hearing loss is
Vincent Van Rompaey, Vincent Van Rompaey
doaj   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

Behçet disease: do individual symptomatology or certain drug intake reflect the severity of sensory neural hearing loss?

Egyptian Rheumatology and Rehabilitation
Background Behçet disease is a relapsing, chronic, systemic inflammatory illness characterized by mucocutaneous, articular, neurological, urogenital, vascular, intestinal, and pulmonary symptoms in addition to recurrent aphthous stomatitis, genital ...
Dina Osman, Mervat Bahiri, Noha Hassan, Yumn Elsabbagh   +3 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Tuberculous Meningitis Presented with Bilateral Sensorineural Hearing Loss: Acute Deafness

Türk Nöroloji Dergisi, 2011
Tuberculous meningitis is the most severe manifestation of extrapulmonary tuberculosis with a high mortality and morbidity rates. It is usually presented with headache, fever, consciousness disturbances and convulsions. Eigth cranial nerve involvement is
Kürşad Çetin Akpınar, Hakan Doğru, Kemal Balcı   +2 more
doaj   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Management options in the sudden hearing loss of a diabetic patient [PDF]

, 2019
The aim of our paper is to highlight the main therapeutic principles and the management options in the case of a diabetic patient who has had a sudden hearing loss.
Badiu, Dumitru Cristinel, Burcea-Dragomiroiu, George Traian Alexandru, Gherghiceanu, Florentina, Hainarosie, Mura, Hainarosie, Razvan, Iana, Oana Ruxandra, Ioniță, Irina, Pietrosanu, Catalina, Pop, Corina Silvia, Rusescu, Andreea, Zainea, Viorel, Ștefănescu, Dragos Cristian   +11 more
core   +3 more sources