ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons+8 more
wiley +1 more source
Virology, epidemiology, transmissions, diagnostic tests, prophylaxis and treatments of human Mpox: Saudi Arabia perspective. [PDF]
Hershan AA.
europepmc +1 more source
Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment
ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia+13 more
wiley +1 more source
Prevalence and diagnostic accuracy of different diagnostic tests for Chagas disease in an indigenous community of the Paraguayan Chaco. [PDF]
Ardiles-Ruesjas S+13 more
europepmc +1 more source
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont+4 more
wiley +1 more source
Comparison of diagnostic tests for chronic endometritis and endometrial dysbiosis in recurrent implantation failure: Impact on pregnancy outcomes. [PDF]
Hiratsuka D+12 more
europepmc +1 more source
Durable B‐Cell Impairment While Sparing IgA B Cells After Ocrelizumab Therapy in Multiple Sclerosis
ABSTRACT Objectives Ocrelizumab (OCR), a humanized anti‐CD20 monoclonal antibody, is highly efficient in relapsing–remitting multiple sclerosis (RR‐MS). We assessed early cellular B‐cell profiles in patients prior to OCR treatment, on OCR treatment, and after 15 months of therapy discontinuation.
Alexandra Garcia+20 more
wiley +1 more source
CRISPR-Cas-Based Pen-Side Diagnostic Tests for Anaplasma marginale and Babesia bigemina. [PDF]
Muriuki R+3 more
europepmc +1 more source