Results 161 to 170 of about 54,480 (306)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Vestibular aqueduct in sudden sensorineural hearing loss

Objective: To evaluate the vestibular aqueduct in patients with sudden sensorineural hearing loss. Methods: We evaluated 19 patients (12 men and seven women; age range, 22279 years) with unilateral sudden sensorineural hearing loss, using computed ...
Sugiura, M., Ishida, I M., Nakata, S., Naganawa, S., Nakashima, T., Yoshida, T., Teranishi, M.   +6 more
core  

Is There a Difference in Occurrence of Complications Between Adults With Hemoglobin SS and Hemoglobin SC Disease: An Extended Systematic Review

European Journal of Haematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is characterized by both acute and chronic complications. The clinical manifestation of these complications differs between genotypes. Given the large amount of research already published, this systematic review aims to offer a complete overview of types of sickle cell complications between adults in the most common ...
Martijn van der Meer, Kim Velsink, Wing H. Tong, Jan W. Schoones   +3 more
wiley   +1 more source

Migraine Features in Patients With Sudden Sensorineural Hearing Loss. [PDF]

Otolaryngol Head Neck Surg
Yazdani Y, Lee EJ, Francis A, Nedjat S, Abouzari M, Djalilian HR.   +5 more
europepmc   +1 more source

Perioperative Transfusion Trigger Score Versus Restrictive Transfusion in Older Non‐Cardiac Surgery Patients: A Multicenter Randomized Controlled Trial

Journal of the American Geriatrics Society, EarlyView.
ABSTRACT Background Restrictive transfusion (Hb < 7 g/dL) is recommended for most perioperative patients, but the optimal threshold for those with cardiovascular disease or Hb 7–10 g/dL remains uncertain. The Perioperative Transfusion Trigger Score (POTTS), which integrates adrenaline requirement, FiO2, temperature, and angina history, may standardize ...
Shucong Liang, Lijuan Bai, Guizhen Yang, Zhuo Chen, Yujia Wei, Yanxia Wei, Yuting Lv, Zehan Huang, Yanjuan Huang, Kejian Lu   +9 more
wiley   +1 more source

Sensorineural Hearing Loss. [PDF]

Annals of Internal Medicine, 1971
G E W Wolstenholme, J Knight
openaire   +2 more sources

Targeting ferroptosis in sensorineural hearing loss: mechanisms, therapeutics, and translational prospects. [PDF]

Front Neurol
Zhang L, Luo P, Liu X, Guo T, Xie H.
europepmc   +1 more source

Is pseudoexfoliation associated with sensorineural hearing loss?

, 2008
Objective: To determine the possible relation between pseudoexfoliation (PSX) and sensorineural hearing loss. Methods: This study was carried out in Afyon Kocatepe University, Afyon, Turkey between July 2002 and June 2005.
Ermis, Sitki S., Kurt, Emin, Derekoy, Sefa, Ozturk, Faruk, Asagidag, Ali, Inan, Umit U.   +5 more
core  

The tympanic covering layer contributes to basilar membrane elasticity potentially influencing human frequency resolution and speech perception

Journal of Anatomy, EarlyView.
In this study we show for the first time that the human basilar membrane contains elastin produced by the so‐called tympanic covering layer. It is believed to play an important functional role in human cochlear tuning, particularly low frequencies linked to our remarkable speech and music perception.
Wei Liu, Claudia Steinacher, Alexander Glueckert, Rudolf Glueckert, Hao Li, Karin Staxäng, Anneliese Schrott‐Fischer, Hanif M. Ladak, Sumit Agrawal, Helge Rask‐Andersen   +9 more
wiley   +1 more source