Results 41 to 50 of about 75,481 (297)

Audio-vestibular symptoms in systemic autoimmune diseases [PDF]

, 2018
Immune-mediated inner ear disease can be primary, when the autoimmune response is against the inner ear, or secondary. The latter is characterized by the involvement of the ear in the presence of systemic autoimmune conditions. Sensorineural hearing loss
Adelchi, Croce, D'AGUANNO, VITTORIO, DE VINCENTIIS, Marco, DE VIRGILIO, ARMANDO, DI STADIO, Arianna, GRECO, Antonio, LONGO, Lucia, RALLI, MASSIMO   +7 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

Systemic lupus erythematosus and hearing disorders: literature review and meta-analysis of clinical and temporal bone findings [PDF]

, 2017
Objective: This literature review and meta-analysis was performed to evaluate the correlations among hearing and vestibular clinical symptoms, temporal bone findings, and pathological mechanisms in patients with systemic lupus erythematosus (SLE).
DI STADIO, Arianna, Ralli, Massimo
core   +1 more source

Engineered Heparinized GQDS/HPEI–Polyamide Membrane for Bilirubin Removal via One Step Anti Coagulation

Advanced Materials Interfaces, EarlyView.
A multifunctional heparinized polyamide membrane embedded with graphene quantum dots (GQDs) and hyperbranched polyethyleneimine (HPEI) is engineered for efficient bilirubin removal via a one‐step anticoagulation–adsorption process. The membrane demonstrates enhanced hemocompatibility, prolonged clotting times, and high bilirubin adsorption capacity ...
Abdur Rehman Mushtaq Ahmad, Maria Wasim, Aneela Sabir, Muhammad Shafiq, Syed Abdul Basit Shah, Maoz Maoz, Vanni Lughi   +6 more
wiley   +1 more source

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

SAGE Open Medical Case Reports, 2017
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families.
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien   +8 more
doaj   +1 more source

A Rare Case of Vertebrobasilar Dolichoectasia Presenting with Ipsilateral Facial Paresis and Concomitant Severe Sensorineural Hearing Loss

Philippine Journal of Otolaryngology Head and Neck Surgery, 2014
Objective: To report a case of vertebrobasilar dolichoectasia presenting with ipsilateral facial nerve paresis and concomitant severe sensorineural hearing loss.
Mee Ling Tang, Govindaraju Revadi, Raman Rajagopalan, Sushil Brito-Mutunayagam   +3 more
doaj   +1 more source

GATA4‐Driven Transcription of HtrA1 Promotes Cellular Senescence in Ménière's Disease and Age‐Related Audio‐Vestibular Dysfunction

Advanced Science, EarlyView.
This study identifies the HDAC6/GATA4/HtrA1 axis as a critical driver of cellular senescence in the inner ear. GATA4 nuclear translocation, facilitated by HDAC6 downregulation, transcriptionally activates HtrA1, promoting hair cell senescence, SASP, and audio‐vestibular dysfunction in models of Ménière's disease and age‐related audio‐vestibular ...
Na Zhang, Na Li, Yan Wang, Jing Zhang, Jiahui Liu, Lei Chen, Yongdong Song, Yurong Mu, Yuechen Han, Yafeng Lyu, Xiaofei Li, Hanyue Wang, Jing Wang, Yao Lu, Zhaomin Fan, Daogong Zhang, Haibo Wang   +16 more
wiley   +1 more source

Optimal management of Cogan’s syndrome: a multidisciplinary approach [PDF]

, 2017
Cogan's syndrome (CS) is a rare disorder characterized by nonsyphilitic interstitial keratitis (IK) and audio-vestibular symptoms. CS affects mainly young Caucasian adults, mostly during their first three decades of age, and may develop into typical and ...
D'Aguanno, Vittorio, de Vincentiis, Marco, Greco, Antonio, Ralli, Massimo   +3 more
core   +1 more source