Results 71 to 80 of about 5,698 (205)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

[Adiés tonic pupil and other associated signs]. [PDF]

Aten Primaria, 2021
Rendón Fernández H, Arias Del Peso B.
europepmc   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 more
wiley   +1 more source

Neurosyphilis Masquerading as an Acute Adie’s Tonic Pupil: Report of a Case

Case Reports in Ophthalmology, 2011
We describe the case of a male patient who presented with anisocoria, and was initially diagnosed with an acute Adie’s tonic pupil. On subsequent laboratory testing, he was found to have neurosyphilis.
Gerardo D. Camoriano, Jacinthe Kassab, Amar Suchak, Howard V. Gimbel   +3 more
doaj   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Facial Cosmetic Therapy Use Among Patients With Systemic Sclerosis: An Australian Cohort Study

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is associated with numerous facial manifestations for which patients may engage in cosmetic therapies. It is unclear how patients with SSc use these therapies. This study sought to characterize patient engagement and experiences with cosmetic therapies for SSc‐related and non‐SSc–related facial changes.
Zachary Warren, Diane Apostolopoulos, Gene‐Siew Ngian, Amanda M. Saracino, Laura Ross, Nava Ferdowsi, Jennifer Walker, Cindy Hall, Kim Griggs, Susanna Proudman, Wendy Stevens, Joanne Sahhar   +11 more
wiley   +1 more source

Role of autoimmunity in the etiopathogenesis of Ross syndrome

The Pan-American Journal of Ophthalmology
Ross syndrome is a rare clinical entity that manifests classically with a triad of segmental anhidrosis, tonic pupil, and hyporeflexia. Here, we present a case of Ross syndrome in a university-going female in her early twenties with a history of ...
Ashutosh Kumar Mishra, Ruchi Shukla, Saubhagya Kumar Rout, Harshit Bajpai   +3 more
doaj   +1 more source

Field Report from Collaborative Research Center 1625: Heterogeneous Research Data Management Using Ontology Representations

Advanced Engineering Materials, EarlyView.
A unified research data management framework for heterogeneous materials data is presented. The system integrates multimodal datasets using ontologies and knowledge graphs, enabling interoperability and FAIR (findable, accessible, interoperable, reusable) data principles. By linking data across scales and workflows, it supports reproducible, Artifitial
Doaa Mohamed, Samuel García Vázquez, Behnam Mardani, Victor Dudarev, Alfred Ludwig, Maribel Acosta, Markus Stricker   +6 more
wiley   +1 more source