Results 221 to 230 of about 382,242 (307)

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, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Co-Delivery of Sustained Release Chondroitinase ABC-37 With Human iPSC-Derived Neural Progenitors Promotes Transplant Survival and Functional Recovery in a Rodent Model of Stroke. [PDF]

Adv Sci (Weinh)
Letko Khait N, Li DX, Guo K, Cui H, Sirianni Q, Abdo D, Morshead CM, Shoichet MS.   +7 more
europepmc   +1 more source

A Two‐Stage Plasma Biomarker Algorithm Reduces Amyloid PET Use and the p‐Tau217 Gray Zone

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐Tau217 leaves 30%–50% of patients in an indeterminate “gray zone” often requiring Aβ‐PET. We developed GRAD (Gatekeeper‐Reflex for Alzheimer's Disease), a two‐stage Aβ‐positivity prediction model to improve classification while reserving Aβ‐PET for residual uncertainty.
Harthik Parankusham, Casey Vanderlip, Colin Birkenbihl, Eashwar Krishna, Chizobam Ugboaja, Andrew E. Budson, Brandon Frank, for the Alzheimer's Disease Neuroimaging Initiative   +7 more
wiley   +1 more source

Sporadic lymphangioleiomyomatosis with lymphocyte-predominant pleural effusion misdiagnosed as tuberculosis: a case report. [PDF]

Respir Med Case Rep
Lamboro BT, Belachew Dejene M, Belisa TK, Gashaw Dessie M.   +3 more
europepmc   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Hypokalemia and New-Onset Diabetes in Heart Failure With Mildly Reduced or Preserved Ejection Fraction. [PDF]

Diabetes Care
Ostrominski JW, Lu H, Claggett BL, Desai AS, Jhund PS, Henderson AD, Lam CSP, Senni M, Shah SJ, Voors AA, Zannad F, Pitt B, Brinker M, Scalise A, De Sanctis Y, Hofmeister L, McMurray JJV, Solomon SD, Vaduganathan M.   +18 more
europepmc   +1 more source

Automatic Lesion Morphometrics Reliably Predict Sensorimotor Recovery After Spinal Cord Injury: A Longitudinal, Multicenter Neuroimaging Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate automatic magnetic resonance imaging (MRI)‐derived lesion morphometrics against manual measurements and their prognostic value for characterizing distinct acute to chronic neurological recovery trajectories after spinal cord injury (SCI). Methods We studied a retrospective, multicenter cohort of cervical and thoracolumbar
Dario Pfyffer, Jan Valošek, Lynn Farner, Enamundram Naga Karthik, Gergely David, Norbert Weidner, Rainer Abel, Doris Maier, Armin Curt, Margret Hund‐Georgiadis, Mirko Aach, Michael Baumberger, Julien Cohen‐Adad, Patrick Freund, the Nogo Inhibition in Spinal Cord Injury Study Group, Rainer Abel, Kerstin Rehahn, Mirko Aach, Klaus Röhl, Norbert Weidner, Marion Saur, Nikolaus Weiskopf, Doris Maier, Andreas Badke, Margret Hund‐Georgiadis, Michael Baumberger, Armin Curt, Jesus Benito‐Penalva, Jiri Kriz   +28 more
wiley   +1 more source

Measuring performance in cancer services during COVID-19 and beyond: a novel case throughput metric using NHS Cancer Waiting Times data. [PDF]

J Public Health (Oxf)
Lam CHM, Mason T, Hollingsworth B.
europepmc   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

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, Anne Horne, Angelo Gaffo, Lisa K. Stamp, N. Lawrence Edwards, Nicola Dalbeth   +5 more
wiley   +1 more source