Results 131 to 140 of about 102,616 (265)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

The impact of misdiagnosed heart failure and cardiac or extra-cardiac disease burden on the prognosis in patients with type 2 diabetes. [PDF]

BMC Cardiovasc Disord
Yeshniyazov NB, Posokhov IN, Medovchshikov VV, Kurmanalina GL, Kushimova DE, Talipova IZ, Tokbayeva KK, Akhmetova AS, Zholdin B.   +8 more
europepmc   +1 more source

Misdiagnosis of Testicular Tumours [PDF]

Journal of the Royal Society of Medicine, 1978
openaire   +2 more sources

A Teenage Guitarist's Swollen Fingers

JEADV Clinical Practice, EarlyView.
Maho Matsuo, Hiroaki Iwata
wiley   +1 more source

A Brainstem Radiomics Framework to Distinguish Progressive Supranuclear Palsy from Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Differentiating progressive supranuclear palsy (PSP) from Parkinson's disease (PD) can be clinically challenging. In the neuroimaging field, radiomics has emerged as a promising approach to capture subtle microstructural and textural image alterations, improving differential diagnoses.
Chiara Camastra, Jolanda Buonocore, Antonio Augimeri, Camilla Calomino, Maria Giovanna Bianco, Alessia Sarica, Pier Paolo Arcuri, Aldo Quattrone, Andrea Quattrone   +8 more
wiley   +1 more source

Unveiling the overlooked burden of malaria misdiagnosis using lamp-based re-evaluation of routine malaria diagnosis in health centers: implications for public health and clinical practice in Northwest Ethiopia. [PDF]

BMC Infect Dis
Alula MT, Tegegne B, Setegn A, Yimer M, Tefera MW, Gedfie S, Ashagre A, Abere A, Tamir M, Mezgebu B, Abebe AD, Almaw A, Pillai DR, Lemma W, Eshetu T.   +14 more
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Pathological Vertebral Fractures Misdiagnosed as Osteoporotic Vertebral Fractures: A Case Series of Four Patients and Diagnostic Strategies. [PDF]

Case Rep Orthop
Lin JM, Yuan XJ, Li G, Gan XR, Xu WH.
europepmc   +1 more source

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

Familial Trichostrongylus Infection Misdiagnosed as Acute Fascioliasis

Emerging Infectious Diseases, 2015
Keyhan Ashrafi, Ali Tahbaz, Meysam Sharifdini, Santiago Mas-Coma   +3 more
doaj   +1 more source