Results 131 to 140 of about 4,122,808 (304)

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Abstract 51: Tolerance Induction Protocol For VCA Across Full Mismatch Barriers In MHC-Defined Miniature Swine

Plastic and Reconstructive Surgery, Global Open, 2020
Alec R. Andrews, BS, Philipp Tratnig-Frankl, MD, Corentin B. Taveau, MD, Michael M. Jonczyk, MD, Laurent A. Lantieri, MD, Mark A. Randolph, MAS, Alexandre G. Lellouch, MD, Gilles Benichou, PhD, Curtis L. Cetrulo, Jr., MD, FACS   +8 more
doaj   +1 more source

How Should Bacteriological Sampling Be Stratified in Paediatric Septic Arthritis? A Narrative Review with a Proposed Risk-Stratified Framework

Antibiotics
Joint aspiration remains the gold standard and an urgent step in the diagnosis of paediatric septic arthritis (SA). Unlike in acute haematogenous osteomyelitis, it has both diagnostic and therapeutic value.
Pablo Rodriguez, Maxime Schilliger, Ahmer Khan, Giacomo De Marco, Oscar Vazquez, Andreas Tsoupras, Ardian Ramadani, Christina Steiger, Romain Dayer, Dimitri Ceroni   +9 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Renal tubular dysfunction in children with sickle cell disease

Mediterranean Journal of Hematology and Infectious Diseases, 2014
Background: Children with sickle cell disease (SCD) are remarkably more prone than others to renal dysfunction. The kidneys, as a part of the systemic long term hazards in SCD, may be affected by both the hemodynamic changes of chronic anemia as well as
Mohamed El Koumi, Yasser Fathy Ali, Salah El Morshedy, Asmaa Samir   +3 more
doaj  

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

CSF1R antagonism results in increased supraspinal infiltration in EAE

Journal of Neuroinflammation
Background Colony stimulating factor 1 receptor (CSF1R) signaling is crucial for the maintenance and function of various myeloid subsets. CSF1R antagonism was previously shown to mitigate clinical severity in experimental autoimmune encephalomyelitis ...
Marilyn Wang, Sofia E. Caryotakis, Glendalyn G. Smith, Alan V. Nguyen, David E. Pleasure, Athena M. Soulika   +5 more
doaj   +1 more source

American Women's Hospitals Report, 1923

, 1923
Dr. Mabel Elliott, a physician with the American Women’s Hospitals reports from Athens, Greece on the services provided to Turkish refugees from the city of Smyrna, following the burning of Smyrna in September ...
Elliott, Mabel Evelyn, b. 1881
core