Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo +11 more
wiley +1 more source
Effects of Speaker Characteristics on Speaker Identification by European American Listeners
, 2011 This study examined perceptual identification of African American and Caucasian speakers by undergraduate Caucasian listeners (N=281; 124 male, 157 female).
Canonaco, Jacqueline +3 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective The objective of this article is to identify perceptions of patients with systemic lupus erythematosus (SLE) regarding artificial intelligence (AI)–based online symptom assessment tools, and the potential of these tools to address diagnostic barriers.
Olivia A. Stein +7 more
wiley +1 more source
Expression of Concern: Enhancing speaker identification through reverberation modeling and cancelable techniques using ANNs. [PDF]
PLoS OnePLOS One Editors.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart +5 more
wiley +1 more source
A hybrid CNN and reinforcement learning framework for speaker identification using Mel-Spectrogram and continuous wavelet transform features. [PDF]
Sci RepHeir FM, Najafzadeh H, Erfani S.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni +4 more
wiley +1 more source
Facial Cosmetic Therapy Use Among Patients With Systemic Sclerosis: An Australian Cohort Study
Arthritis Care &Research, EarlyView.Objective Systemic sclerosis (SSc) is associated with numerous facial manifestations for which patients may engage in cosmetic therapies. It is unclear how patients with SSc use these therapies. This study sought to characterize patient engagement and experiences with cosmetic therapies for SSc‐related and non‐SSc–related facial changes.
Zachary Warren +11 more
wiley +1 more source
Recurrence plot embeddings as short segment nonlinear features for multimodal speaker identification using air, bone and throat microphones. [PDF]
Sci RepNawas KK +6 more
europepmc +1 more source