Results 111 to 120 of about 11,881 (273)

Deciphering cell signaling rewiring in human disorders [PDF]

arXiv, 2015
The knowledge of cell molecular mechanisms implicated in human diseases is expanding and should be converted into guidelines for deciphering pathological cell signaling and suggesting appropriate treatment. The basic assumption is that during a pathological transformation, the cell does not create new signaling mechanisms, but rather it hijacks the ...
arxiv  

Alexander's Law in Patients with Acute Vestibular Tone Asymmetry—Evidence for Multiple Horizontal Neural Integrators [PDF]

, 2018
Alexander's law (AL) states that the slow-phase velocity of spontaneous nystagmus of peripheral vestibular origin is dependent on horizontal gaze position, with greater velocity when gaze is directed in the fast-phase direction.
Bockisch, C., Hegemann, S., Straumann, D.   +2 more
core  

Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva [PDF]

, 2009
In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS) we could demonstrate by diffusion tensor imaging: (1) An anterior displacement of the transverse pontine fibers; (2) Posterior clumping of the ...
BUENO, Clarissa, KOK, Fernando, LEITE, Claudia da Costa, NAGAE, Lídia Mayumi, OTADUY, Maria Conceptión García, PINHO, Marco da Cunha, REED, Umbertina Conti   +6 more
core   +2 more sources

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug‐responsive epilepsy with favorable cognitive outcome

Epilepsia, EarlyView.
Abstract The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage‐gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with developmental and epileptic encephalopathy‐47 (DEE47; Mendelian Inheritance in Man #617166) with poor outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Sébastien Boulogne, Maryline Carneiro, Nicolas Chatron, Bertrand Isidor, Laure Lacan, Gaëtan Lesca, Sylvie Nguyen, Diana Rodriguez, Sabrine Souci, Stéphanie Valence, Laurent Villard, Mathieu Milh, Béatrice Desnous   +17 more
wiley   +1 more source

Incapacitating hypersensitivity to one's own body sounds due to a dehiscence of bone overlying the superior semicircular canal. A case report [PDF]

, 2018
We present a case study of a 49-year-old patient with an 8-year history of hypersensitivity to sound produced by intrinsic but not extrinsic sources. Findings that indicated an organic problem were: a supranormal bone conduction threshold of −25 to −15dB
Allum, John, Buitrago-Téllez, Carlos, Probst, Rudolf, Schmuziger, Nicolas   +3 more
core  

PathoSCOPE: Few-Shot Pathology Detection via Self-Supervised Contrastive Learning and Pathology-Informed Synthetic Embeddings [PDF]

arXiv
Unsupervised pathology detection trains models on non-pathological data to flag deviations as pathologies, offering strong generalizability for identifying novel diseases and avoiding costly annotations. However, building reliable normality models requires vast healthy datasets, as hospitals' data is inherently biased toward symptomatic populations ...
arxiv  

Peri‐anaesthetic complications in 1798 equids undergoing high‐field elective orthopaedic MRI at a tertiary referral hospital

Equine Veterinary Journal, Volume 57, Issue 3, Page 666-673, May 2025.
Abstract Background Antimicrobial prophylaxis for elective orthopaedic magnetic resonance imaging (MRI) in equids is a topic of debate among practitioners and can have negative detrimental effects on patients if used unnecessarily. Objectives To describe the complications with elective orthopaedic MRI of horses, mules, and donkeys under general ...
Heath Manning, Sarah Sampson
wiley   +1 more source

Evaluating the outcomes of pluripotent stem‐cell‐derived photoreceptor transplantation in retinal repair

The FEBS Journal, EarlyView.
Transplantation of stem cell‐derived photoreceptors in retinal repair. We summarize methods for differentiating stem cells and describe surgical techniques for transplanting photoreceptor precursors to restore visual function (A). The effectiveness of these techniques is assessed with behavioral (B) and in vitro assays (C) using mouse models that mimic
Darin Zerti, Birthe Dorgau, Evelyne Sernagor, Lyle Armstrong, Majlinda Lako, Gerrit Hilgen   +5 more
wiley   +1 more source

The prevalence of strabismus types in strabismic Iranian patients

Clinical Optometry, 2018
Masoud Khorrami-Nejad,1 Mohamad Reza Akbari,2 Bahram Khosravi1 1Department of Optometry, Faculty of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Eye Research Center, Farabi Eye Hospital, Tehran University of Medical ...
Khorrami-Nejad M, Akbari MR, Khosravi B
doaj  

Anatomy-guided Pathology Segmentation [PDF]

arXiv
Pathological structures in medical images are typically deviations from the expected anatomy of a patient. While clinicians consider this interplay between anatomy and pathology, recent deep learning algorithms specialize in recognizing either one of the two, rarely considering the patient's body from such a joint perspective. In this paper, we develop
arxiv