Results 51 to 60 of about 481,258 (255)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Recovery of threatened plant species and their habitats in the biodiversity hotspot of the Southwest Australian Floristic Region

Plant Diversity, 2019
The Southwest Australian Floristic Region (SWAFR) is a global biodiversity hotspot with high plant diversity and endemism and a broad range of threatening processes. An outcome of this is a high proportion of rare and threatened plant species.
Leonie Monks, Sarah Barrett, Brett Beecham, Margaret Byrne, Alanna Chant, David Coates, J. Anne Cochrane, Andrew Crawford, Rebecca Dillon, Colin Yates   +9 more
doaj   +1 more source

Effect of Implementing a Dashboard With or Without a Best Practice Alert on HLA‐B*58:01 Testing Rates Among Allopurinol Users at VA Medical Centers

Arthritis Care &Research, EarlyView.
Objective The American College of Rheumatology recommends HLA‐B*58:01 allele testing before the initiation of allopurinol, specifically among Asian and African American/Black patients, due to their increased risk for severe hypersensitivity reactions. However, testing rates remain low at many health care facilities.
Abimbola Fadairo‐Azinge, Gabriela Schmajuk, Sristi Sharma, Colleen P. Flanagan, Sara Faghihi‐Kashani, Ning Zhang, Mary A. Whooley   +6 more
wiley   +1 more source

Proceedings of essential health care package development, in Botswana and Sierra Leone, November 2022

BMC Proceedings
The development of essential health care package (EHCP) has been recognized as a critical tool for guiding country level actions towards Universal Health Coverage (UHC).
Humphrey Cyprian Karamagi, Solyana Ngusbrhan Kidane, Pierre Claver Kariyo, Araia Berhane Mesfin, Isabella Maina, Gertrude Avortri, Hyppolite Kalambay Ntembwa   +6 more
doaj   +1 more source

Databases in the Management of Epidemiological Outbreaks Part of the National Critical Infrastructure: The Evolution during the Pandemic

Applied Medical Informatics, 2021
The evolution of the pandemic has led to a change in public health and data management in the infectious disease surveillance network monitored by the county public health directorates.
Călin MUNTEAN, Călin CHEŢE, Alexandru BULLA, Alexandru POPA   +3 more
doaj  

Prevalence of Systemic Lupus Erythematosus in Australia, 2010–2022: A Population‐Based Study Using Linked National Administrative Health Data

Arthritis Care &Research, EarlyView.
Objective Systemic lupus erythematosus (SLE) is a heterogenous inflammatory condition with widely varying global prevalence estimates. The frequency of SLE in the general population of Australia has been reported to be notably lower than contemporary estimates in countries such as the United States or United Kingdom, at 19 to 39 per 100,000 as opposed ...
Lucinda Roper, Rachel Black, Joanna Tieu, Winnie Chen, Matthew Parker, Catherine Hill, Natasha Nassar, Mandana Nikpour   +7 more
wiley   +1 more source

Formal and Informal Social Care in People With Rheumatic and Musculoskeletal Diseases: A Cross‐Sectional Multicenter Survey

Arthritis Care &Research, EarlyView.
Objective Rheumatic and musculoskeletal diseases (RMDs) are leading causes of physical disability, necessitating support with activities of daily living. This study describes social care received by patients with RMDs in two disparate regions of England: Salford (urban) and Norfolk (rural).
Mehreen Somro, Karen Durrant, William G. Dixon, John McBeth, Alex MacGregor, Max Yates, Jenny H. Humphreys   +6 more
wiley   +1 more source

Comparison of two plates and screw osteosynthesis configurations in a rat model of critical sized femoral defects to reduce implant related failures

Scientific Reports
This study aimed to compare the failure rates of two different sizes of plates and screws to stabilize critical-sized (7 mm) femoral defects in male Sprague‒Dawley rats (aged 10 weeks).
Marc Saab, Anne-Sophie Drucbert, Nicolas Blanchemain, Feng Chai   +3 more
doaj   +1 more source

High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello, Rui Xiao, Xuemei Zhang, Jahan Jazayeri, Irit R. Rasooly, Pamela F. Weiss   +5 more
wiley   +1 more source