Results 101 to 110 of about 2,725,444 (278)

Imaging of Abdominal Complications in Children With Acute Lymphoblastic Leukaemia

Journal of Medical Imaging and Radiation Oncology, EarlyView.
ABSTRACT Acute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer‐related death in children and adolescents. Five‐year overall survival rates now exceed 90% with current multidrug chemotherapeutic regimens. This improvement, coupled with the toxicity of chemotherapy, has led to the
Luke R. Holmes, Rishi S. Kotecha, Derek J. Roebuck   +2 more
wiley   +1 more source

Designing Upper-Body Gesture Interaction with and for People with Spinal Muscular Atrophy in VR [PDF]

arXiv
Recent research proposed gaze-assisted gestures to enhance interaction within virtual reality (VR), providing opportunities for people with motor impairments to experience VR. Compared to people with other motor impairments, those with Spinal Muscular Atrophy (SMA) exhibit enhanced distal limb mobility, providing them with more design space.
arxiv  

Mapping VEXAS‐associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

British Journal of Haematology, EarlyView.
VEXAS syndrome is a late‐onset inflammatory disorder with rheumatological and haematological features. Epidemiological studies of VEXAS syndrome so far have been limited. Analysis of various UK cohorts estimates the incidence of VEXAS to be 1.51/100 000, or 171 new cases in the population of men over the age of 50 who are being investigated for myeloid
Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A. Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al‐Hakim, Kar Lok Kong, David G. Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic   +15 more
wiley   +1 more source

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid [PDF]

, 2011
Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior horn, resulting in hypotonia and muscle weakness.
Darbar, Illora A, Plaggert, Paulo G, Reed, Umbertina C, Resende, Maria Bernadete D, Zanoteli, Edmar   +4 more
core   +3 more sources

Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations

Cancer Science, EarlyView.
Complex interindividual U1 snRNA diversity was unveiled. Mutations in such complex loci were precisely detected with a pangenome graph reference, which enhances the possibility of the human pangenome reference in cancer genomics. ABSTRACT U1 small nuclear RNA (snRNA) mutations are recurrent non‐coding alterations found in various malignancies, yet ...
Takuma Nakashima, Tsubasa Miyauchi, Ryota Takeuchi, Yuriko Sugihara, Yusuke Funakoshi, Fumiharu Ohka, Sachi Maeda, Junko Hirato, Takako Yoshioka, Hajime Okita, Yoshitaka Narita, Yonehiro Kanemura, Yasuhiro Kojima, Yuko Watanabe, Ryuta Saito, Hiromichi Suzuki   +15 more
wiley   +1 more source

Development of a Robotic System for Automatic Wheel Removal and Fitting [PDF]

arXiv, 2019
This paper discusses the image processing and computer vision algorithms for real time detection and tracking of a sample wheel of a vehicle. During the manual tyre changing process, spinal and other muscular injuries are common and even more serious injuries have been recorded when occasionally, tyres fail (burst) during this process.
arxiv  

Chronic generalized spinal muscular atrophy of infancy and childhood: Arrested Werdnig-Hoffmann disease [PDF]

, 1973
John Pearn, John Wilson
openalex   +1 more source

Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases

Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc‐Millar, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

Clinical Genetics, EarlyView.
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Randa Sultan, Marta Villa‐Lopez, Clara Hung, Morganne McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews   +6 more
wiley   +1 more source

A Shape-Based Functional Index for Objective Assessment of Pediatric Motor Function [PDF]

arXiv
Clinical assessments for neuromuscular disorders, such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), continue to rely on subjective measures to monitor treatment response and disease progression. We introduce a novel method using wearable sensors to objectively assess motor function during daily activities in 19 patients with ...
arxiv