Results 211 to 220 of about 218,532 (303)

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher, John Hicks, Krupa R. Mysore   +2 more
wiley   +1 more source

Hodgkin lymphoma of the ampulla of Vater: A rare cause of obstructive jaundice in children

JPGN Reports, EarlyView.
Abstract Hodgkin lymphoma (HL) has a wide spectrum of presentation. Most cases affect lymph nodes (nodal), while extranodal involvement is rare. Whereas the gastrointestinal tract is enriched with lymphoid tissues, the ampulla of Vater is not rich in lymphoid tissue. Involvement of the ampulla of Vater with HL has rarely been reported in adults and has
Sultana Alshammari, Homoud Alhebbi, Awad Al Qahtani, Sarah Algubaisi, Faisal Alhaffaf, Abdulrahman Al Robayan, Mohammed Almutairi, Saeed Alshieban, Mohammad Alshahrani, Tarek Khaled Alfawzan, Khalid Alkhamis, Ibrahim Al Hasan, Sami Wali   +12 more
wiley   +1 more source

Associations between frailty, biomarkers of cerebral pathology, cognitive and neuropsychiatric symptoms: a memory clinic study. [PDF]

J Frailty Aging
Gilles V, Flaus A, Teillac A, Verny M, Blanc F, Paccalin M, Desmidt T, Louchart de la Chapelle S, Dumay C, Sauvée M, Lehmann S, Hirtz C, Cotton F, Bathsavanis A, Gervais F, Novais T, Desestret V, Boublay N, Krolak-Salmon P, Dautricourt S, Garnier-Crussard A.   +20 more
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Uncovering the Role of Neuropsychiatric Symptoms in Cognitive Impairment Progression. [PDF]

Proceedings (IEEE Int Conf Bioinformatics Biomed)
Jeon E, Garg M, Liu X, Vassilaki M, St Sauver J, Petersen RC, Sohn S.   +6 more
europepmc   +1 more source

Comparing treatment outcomes of prolonged exposure therapy across trauma type and veteran status

Journal of Traumatic Stress, EarlyView.
Abstract This retrospective cohort study evaluated the effectiveness of prolonged exposure therapy (PE) across trauma types (combat, terror, civilian) and veteran status (military veterans vs. civilians) in a real‐world clinical setting. We hypothesized that individuals who experienced combat‐ and terror‐related trauma would have higher baseline ...
Nitsa Nacasch, Roy Aloni, Chen Avni, Lilach Rachamim, Edna Foa, Paz Toren   +5 more
wiley   +1 more source

Clinical Outcome Assessments in Parkinson's Disease: A Scoping Review of Current Rating Scales and Future Needs

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Clinical outcome assessments (COAs) are essential for evaluating symptom severity, treatment response, and disease progression in Parkinson's disease (PD). As clinical knowledge evolves, it is necessary to revisit the recommendation status on the COAs to ensure their continued relevance and validity. Objectives To provide an updated
Evita Papathoma, Panagiota Tsitsi, Nirosen Vijiaratnam, Camila Aquino, Stephen R. Duma, Norbert Kovacs, Kigocha Lameck Okeng'o, Aparna Wagle Shukla, Roongroj Bhidayasiri, Tiago A. Mestre, Alvaro Sanchez Ferro, Alberto J. Espay, Michelle H.S. Tosin, Matej Skorvanek, Ioanna Markaki   +14 more
wiley   +1 more source

Neuropsychiatric symptoms in Alzheimer's disease: Bridging mechanisms, management, and emerging innovations. [PDF]

Neurotherapeutics
Rose DK, Lyketsos CG, Rosenberg PB, Nowrangi MA.   +3 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source