Results 101 to 110 of about 187,613 (226)

Applications of Machine Learning in Noninvasive Anemia Diagnosis: A Systematic Review Based on Cross‐Industry Standard Process for Data Mining

Health Science Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background and Aims Anemia is a disorder caused by insufficient red blood cell count or hemoglobin concentration, affecting nearly a quarter of the global population each year. An undiagnosed condition can escalate into life‐threatening complications, particularly among pregnant women and children. Although anemia causes identifiable symptoms,
Mohammad Hadi Ghahroudi, Niloofar Mohammadzadeh, Hadiseh Ghadiri Bidhendi   +2 more
wiley   +1 more source

Clinico-Pathological Correlation of the Optic Neuropathy in Familial Dysautonomia

, 2014
We have demonstrated that Familial Dysautonomia (FD) or Riley Day syndrome is associated with a specific optic neuropathy that resembles other mitochondrial optic neuropathies.
Carlos E. Mendoza-Santiesteban; Thomas R. Hedges III; Nora Laver; Lucy Norcliffe-Kaufmann; Felicia Axelrod; Horacio Kaufmann
core  

Pathologic Abnormalities in the Optic Nerves from Familial Dysautonomia

, 2011
Riley Day syndrome, or familial dysautonomia, has rarely been shown to be associated with optic atrophy. Recently we have evaluated a group of patients with this condition and have found evidence of maculopapillary optic nerve damage in all of them.
Carlos Mendoza; Thomas Hedges; Felicia Axelrod; Horacio Kaufman; Nora Laver; Nada Farhat
core  

Exocrine Gland Dysfunction in Parkinson's Disease: Pathophysiology, Clinical Manifestations, and Therapeutic Perspectives—A Narrative Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2081-2092, September 2026.
Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz, Marina Farah, Laura Silveira‐Moriyama   +2 more
wiley   +1 more source

Greater Motor and Nonmotor Burden at Diagnosis Is Associated With Amyloid Copathology in Parkinson's Disease

Movement Disorders, Volume 41, Issue 9, Page 2299-2309, September 2026.
Abstract Background Concurrent Alzheimer's disease pathology is increasingly recognized as a poor prognostic factor in Parkinson's disease (PD), yet reliable clinical indicators for early identification of AD copathology remain poorly established.
Han Kyu Na, Yeeun Sun, Chan Wook Park, Jung Hyun Lee, Yun Young Choi, Quynh Phuong Vo, Seok Jong Chung, Han Soo Yoo, Chul Hyoung Lyoo, Young H. Sohn, Jin Yong Hong, Phil Hyu Lee   +11 more
wiley   +1 more source

Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia

Neurobiology of Disease
Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons.
Frederik Arnskötter, Patricia Benites Goncalves da Silva, Mackenna E. Schouw, Chiara Lukasch, Luca Bianchini, Laura Sieber, Jesus Garcia-Lopez, Shiekh Tanveer Ahmad, Yiran Li, Hong Lin, Piyush Joshi, Lisa Spänig, Magdalena Radoš, Mykola Roiuk, Mari Sepp, Marc Zuckermann, Paul A. Northcott, Annarita Patrizi, Lena M. Kutscher   +18 more
doaj   +1 more source

Urinary Dysfunction in Myasthenic Syndromes: A Scoping Review of Clinical Features and Treatment‐Related Associations

Muscle &Nerve, Volume 74, Issue S1, Page S97-S107, September 2026.
ABSTRACT Urinary dysfunction has been reported in association with myasthenic syndromes, including myasthenia gravis (MG), Lambert–Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS), but evidence regarding its prevalence, clinical impact, pathophysiology, and management remains limited.
Julia M. Augustin, Lillith Horstkorte, Hellen Schmidt, Blanca G. Sánchez Navarro, Avan Kader, Inga Koneczny, Holly M. Nelson, Pratishtha P. Wadnerkar, Rafael Meleka Hanna, Ayşe N. Özdağ Acarlı, Piraye Oflazer, Atay Vural, Franz Blaes, Miriam L. Fichtner   +13 more
wiley   +1 more source

Neuronal and glial cell alterations involved in the retinal degeneration of the familial dysautonomia optic neuropathy [PDF]

Familial dysautonomia (FD) is a rare genetic neurodevelopmental and neurodegenerative disorder. In addition to the autonomic and peripheral sensory neuropathies that challenge patient survival, one of the most debilitating symptoms affecting patients ...
Albertos Arranz, Henar, Darland, Diane C., Sánchez Sáez, Xavier, Kaufmann, Horacio, Mendoza-Santiesteban, Carlos E., Morgan, Jamie, Mendoza-Santiesteban, Carlos E, Darland, Diane, Cuenca, Nicolás, Albertos-Arranz, Henar, Lefcort, Frances, Sánchez-Sáez, Xavier, Gonzalez-Duarte, Alejandra, Schultz, Anastasia   +13 more
core   +1 more source

Meta‐Analysis: Chronic Gastrointestinal Symptoms and Comorbidities in Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders

Alimentary Pharmacology &Therapeutics, Volume 64, Issue 5, Page 574-589, September 2026.
This meta‐analysis reveals that a significant proportion of patients with hEDS/HSD experience gastrointestinal symptoms. The most prevalent symptoms include heartburn, abdominal pain, constipation, and nausea. There is a notable overlap of hEDS/HSD with chronic fatigue, DGBI, GERD, migraine, and orthostatic intolerance.
Dmitrii Kulin, Gerald Holtmann, Thomas Fairlie, Kyle Staller, Samuel Nurko, Laurie Keefer, Douglas A. Drossman, Michael P. Jones, Qasim Aziz, Ayesha Shah   +9 more
wiley   +1 more source

Supplemental_Material_for_Devel_Screen_Platf_to_ident_small_molecules_modyf_splicing_in_FD_by_Salani_et_al – Supplemental material for Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia

, 2018
Supplemental material, Supplemental_Material_for_Devel_Screen_Platf_to_ident_small_molecules_modyf_splicing_in_FD_by_Salani_et_al for Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial ...
Ranjit Shetty (5613053), Fabio Urbina (5613044), Susan A. Slaugenhaupt (5613071), Emily A. Law (5613059), Graham Johnson (1336800), Lisa Minor (5613068), Monica Salani (5613041), C. Scott Gallagher (5613056), Dylan J. Finneran (5613065), Anthony Brenner (5613047), Elisabetta Morini (5613050), Sara Sunshine (5613062)   +11 more
core   +1 more source