Results 81 to 90 of about 80,554 (310)

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, EarlyView.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

Comparing isoflurane and desflurane: A prospective randomised blinded clinical trial in horses undergoing elective surgery

Veterinary Record, EarlyView.
Abstract Background The recovery period is associated with the greatest risk of injury for horses undergoing anaesthesia. Recovery quality and duration can be influenced by the volatile agent. Methods This prospective, randomised blinded clinical investigation recruited 101 healthy client‐owned horses undergoing elective surgery at one UK equine ...
Kate White, John Hird, Polly Taylor
wiley   +1 more source

Subjective Visual Vertical Can be an Effective Tool to Evaluate Vestibular Function of Stapedotomy

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective To investigate if the subjective visual vertical/horizontal (SVV/SVH) can be used to evaluate the otolith organ of otosclerosis and stapedotomy. Design A total of 19 patients who were diagnosed with otosclerosis and underwent surgical treatment in our hospital were collected.
Tao Jiang, Juan Zheng, Wen‐Yan Li
wiley   +1 more source

Intractable Persistent Direction-Changing Geotropic Nystagmus Improved by Lateral Semicircular Canal Plugging

Case Reports in Otolaryngology, 2015
Antigravitational deviation of the cupula of the lateral semicircular canal, which is also called light cupula, evokes persistent direction-changing geotropic nystagmus with a neutral point. No intractable cases of this condition have been reported.
Toru Seo, Kazuya Saito, Katsumi Doi
doaj   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Infantile nystagmus: an optometrist’s perspective

Clinical Optometry, 2017
Asma AA Zahidi, J Margaret Woodhouse, Jonathan T Erichsen, Matt J Dunn Research Unit for Nystagmus, School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK Abstract: Infantile nystagmus (IN), previously known as congenital
Zahidi AA, Woodhouse JM, Erichsen JT, Dunn MJ   +3 more
doaj  

Main principles and technique of electronystagmography (a brief survey of the literature) [PDF]

Electronystagmography (ENG) is one of the modern methods for objective recording of nystagmus, its quantitative and qualitative assessment. It is used more and more often in clinical practice. A brief review of the history of recording of nystagmus and a
Tanchev, K. S.
core   +1 more source

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290 [PDF]

, 2018
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients.
Bertelsen, Mette, Collin, Rob W. J., Coppieters, Frauke, De Zaeytijd, Julie, Hoyng, Carel B, Klaver, Caroline CW, Kroes, Hester Y, Leroy, Bart, Lorenz, Birgit, Pott, Jan-Willem R, Preising, Markus, Thiadens, Alberta AHJ, Valkenburg, Dyon, Van Cauwenbergh, Caroline, van den Born, L. Ingeborgh, van Genderen, Mies M, van Schooneveld, Mary J   +16 more
core   +3 more sources

A Prospective Multi‐Center Implementation Study to Improve the Diagnosis and Treatment of Benign Paroxysmal Positional Vertigo

Academic Emergency Medicine, EarlyView.
ABSTRACT Background Benign paroxysmal positional vertigo (BPPV) is the most common cause of vertigo, yet it remains underdiagnosed and undertreated in emergency departments (EDs). Despite evidence‐based guidelines recommending bedside diagnostic maneuvers (Dix‐Hallpike and supine roll test) and canalith repositioning maneuvers (CRMs), these are ...
Robert Ohle, Danielle Roy, Elger Baraku, Kashyap Patel, David W. Savage, Sarah McIsaac, Ravinder Singh, Daniel Lelli, Darren Tse, Peter Johns, Krishan Yadav, Jeffrey J. Perry   +11 more
wiley   +1 more source

A Developmental Model of Congenital Nystagmus [PDF]

, 2005
Purpose: Congenital nystagmus (CN) is a spontaneous oscillation of the eyes with an onset in the first few months of life. In 90% of affected children there is an associated underlying sensory defect (foveal hypoplasia, cone dysfunction, cataracts, etc.).
Berry, David L., Harris, Christopher M.
core