Results 61 to 70 of about 16,340 (184)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Pupil Unleashed: Unraveling the Enigma of an Unusual Traumatic Head Injury: A Case Report

Clinical Practice and Cases in Emergency Medicine
Introduction: Isolated oculomotor nerve palsy after mild traumatic brain injury is unusual and prognostically significant due to unclear mechanisms and recovery challenges. We present a case of isolated oculomotor nerve palsy following minor head trauma,
Akash Daswaney, Shuchi Abhishek, Sanjan Asanaru Kunju, Priya Pattath Sankaran, Ahlam Abdul Rahman   +4 more
doaj   +1 more source

Early identification of vascular cognitive impairment from a multimodal perspective: a combined diagnosis from targeted cognitive assessments, imaging biomarkers, and molecular fluid biomarkers to ecological behavioral characteristics

Alzheimer's &Dementia, Volume 22, Issue 8, August 2026.
Abstract Vascular cognitive impairment (VCI), the second leading cause of dementia, is characterized by heterogeneous pathophysiology and a potentially reversible early phase, underscoring the need for timely identification. This review synthesizes advances across four complementary domains – targeted cognitive assessments, imaging biomarkers ...
Wenqi Song, Xiaoqun Liu, Tianrui Yu, Yuanyuan Xiang, Peijie Fu, Moxin Wu, Xiaoping Yin, Xiaorong Zhang, Zhiying Chen   +8 more
wiley   +1 more source

Imaging Findings in Neurogenic Ptosis

Journal of the Korean Society of Radiology
Neurogenic ptosis refers to upper eyelid drooping resulting from disrupted innervation of the eyelid retractor muscles. The differential diagnoses of neurogenic ptosis include oculomotor nerve palsy, Horner’s syndrome, and neuromuscular junction ...
Yiseul Son, Eun Ja Lee, Nam-Hee Kim, So Jeong Lee   +3 more
doaj   +1 more source

The Connections of the Telencephalic Pallium in the White Sturgeon, Acipenser transmontanus: An Experimental Study

Journal of Comparative Neurology, Volume 534, Issue 8, August 2026.
Sturgeons are an ancient and basal group of ray‐finned fishes whose pallium consists of lateral, medial, and posterior divisions. The connections of these divisions were determined by injections of biotinylated dextran amine and DiI. Although there is considerable overlap in the connections of these pallial divisions, their heaviest connections are ...
R. Glenn Northcutt
wiley   +1 more source

Audiovestibular Outcomes After Parathyroidectomy in Primary Hyperparathyroidism

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 4, August 2026.
ABSTRACT Objective To prospectively evaluate audiovestibular outcomes following parathyroidectomy in patients with primary hyperparathyroidism (pHPT) using a comprehensive battery of audiological, vestibular, and patient‐reported outcome measures. Methods This prospective observational study included 31 adult patients undergoing parathyroidectomy for ...
Erdem Köroğlu, Halil Erdem Özel, Seda Erem Basmaz, Melikşah Çakır   +3 more
wiley   +1 more source

Pituitary abscess syndrome in a greater kudu (Tragelaphus strepsiceros)

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract An adult male greater kudu (Tragelaphus strepsiceros) presented for a fractured distal left horn. Twelve weeks later, lethargy, pruritus and left periocular swelling were noted. Avulsion of the left horn occurred 1 month later, revealing a necrotic horn base.
Michelle R. Greenfield‐Feig, Melissa A. Fayette, Marina Ivančić, Marley Iredale, Lauren von Stade   +4 more
wiley   +1 more source

Concurrent Hashimoto's Encephalopathy and Papillary Thyroid Carcinoma: A Case Report

Clinical and Experimental Neuroimmunology, Volume 17, Issue 3, August 2026.
ABSTRACT Background Hashimoto's encephalopathy (HE) is a rare steroid‐responsive autoimmune syndrome. Although HE is associated with anti‐thyroid antibodies, its concurrence with malignant thyroid tumors has rarely been described and its clinical implications remain poorly understood.
Ryo Hara, Toshiyuki Kakumoto, Anna Suzuki, Satoshi Yamashita, Takayoshi Niwa, Kanako Hayashi, Arisa Morizono, Ayaka Sato, Masahiko Tanabe, Noritaka Kudo, Masashi Hamada, Wataru Satake, Tatsushi Toda   +12 more
wiley   +1 more source

Oculomotor nerve palsy associated with bortezomib in a patient with multiple myeloma: a case report

Journal of Medical Case Reports, 2010
Introduction Bortezomib is a proteasome inhibitor used in the treatment of multiple myeloma. A newly recognized oculomotor nerve palsy related to bortezomib is described.
Helmy Tarek, El-Sweilmeen Hamdan, Toema Bassem   +2 more
doaj   +1 more source

Unravelling the Significance of Cystatin C and Bunina Bodies in Amyotrophic Lateral Sclerosis Pathogenesis

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
ABSTRACT Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a fatal neurodegenerative disease primarily affecting motor neurons. Two key protein inclusions found in lower motor neurons serve as neuropathological hallmarks of the disease in human tissue: the TDP43‐positive inclusion and the cystatin C‐positive Bunina body.
Sarah M. Granger, Rosemary A. Staniforth, Asbjorg Osk Snorradottir, Johnathan Cooper‐Knock, Kurt J. De Vos, J. Robin Highley   +5 more
wiley   +1 more source