Results 191 to 200 of about 439,425 (337)

Variant m.1555A>G in MT-RNR1 causes hearing loss and multiorgan mitochondrial disorder

, 2020
Josef Finsterer
openalex   +1 more source

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Prevalence of Hearing Disorders among Type 2 Diabetes Mellitus Patients with and without Vitamin D Deficiency. [PDF]

Maedica (Bucur), 2020
Hosseini MS, Saeedi M, KHALKHALi SA.
europepmc   +1 more source

An Atypical Presentation of Obsessive Compulsive Disorder with Difficulty in Hearing [PDF]

, 2009
Indrapal N. Singh, Anshul K. Rana, Malay K. Singh, Rakesh Kumar Tripathi   +3 more
openalex   +1 more source

Semantic primitives and compositionality: An Annual Review of Information Science and Technology (ARIST) paper

Journal of the Association for Information Science and Technology, EarlyView.
Abstract The term semantic primitives refers to a set of basic, atomic concepts from which all other (compound) concepts are constructed. It presupposes the principle of compositionality—the idea that complex items or expressions can be formed by combining simpler constituents.
Birger Hjørland
wiley   +1 more source

Evaluation of Hearing Thresholds in Infants With Autism Spectrum Disorder Using Auditory Brainstem and Steady-State Responses [PDF]

Dimitra Chaldi, Konstantinos Mourtzouchos, Spyridon Lygeros, Gerasimos Danielides, Stefanos Naxakis   +4 more
openalex   +1 more source

Survey of hearing disorders in an urban population in Rondonia, Northern Brazil

, 2022
Maria Cecília Bevilácqua, Marcos Roberto Banhara, Ariádnes Nóbrega de Oliveira, Adriane Lima Mortari Moret, Kátia de Freitas Alvarenga, Magali de Lourdes Caldana, Luís Marcelo Aranha Camargo, Orozimbo Alves Costa Filho, José Roberto de Magalhães Bastos   +8 more
openalex   +1 more source

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility

Autism Research, EarlyView.
ABSTRACT Auditory hypersensitivity is a prominent symptom in Fragile X syndrome (FXS), the most prevalent monogenic cause of autism and intellectual disability. FXS arises through the loss of the protein encoded by the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene, FMRP, required for normal neural circuit excitability.
Dorit Möhrle, Demi Ma, Wenyue Xue, Jun Yan, Ning Cheng   +4 more
wiley   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Advances in Tinnitus and Hearing Disorders. [PDF]

Brain Sci
Fioretti A.
europepmc   +1 more source