Results 61 to 70 of about 31,387 (151)
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source
Narcolepsy and rapid eye movement sleep
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini +4 more
wiley +1 more source
Facial skin follllicular hyperkeratosis of patients with basal cell carcinoma
Vestnik Dermatologii i Venerologii, 2017 This article provides a clinical observation of paraneoplastic syndrome of a patient with basal cell carcinoma of skin. Authors present clinical features of the described for the first time, paraneoplastic retentional follicular hyperkeratosis of facial ...
M. V. Zhuchkov +2 more
doaj +1 more source
Histiocytosis development and clinical variation through the lens of genomics
The Journal of Pathology, Volume 270, Issue 1, Page 23-39, September 2026.Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps +3 more
wiley +1 more source
Primary Peritoneal Perivesical Hemangiosarcoma in 16 Dogs (2020–2024)
Veterinary Medicine and Science, Volume 12, Issue 5, September 2026.Primary peritoneal perivesical hemangiosarcoma in dogs may represent a distinct anatomical presentation of visceral hemangiosarcoma. Despite a high metastatic rate and guarded prognosis, multimodal treatment combining surgery and chemotherapy significantly improved progression‐free and disease‐specific survival compared with chemotherapy alone ...
Jose Roca +3 more
wiley +1 more source
Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 9, Page 1823-1832, September 2026.Acute hypothalamic–pituitary–ovarian axis suppression is common in anti‐NMDAR encephalitis, yet ovarian function and fertility recover favorably even in teratoma‐associated cases, supporting reassuring long‐term reproductive prognoses. Abstract Introduction Anti‐N‐methyl‐D‐aspartate receptor (anti‐NMDAR) encephalitis predominantly affects women of ...
Jia Wang +4 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1719-1725, August 2026.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT Guillain‐Barré syndrome with pandysautonomia can mimic neurodegenerative and cardiogenic conditions, particularly in elderly patients presenting with autonomic symptoms and parkinsonian features. Timely neurologic evaluation and ganglioside antibody testing—especially anti‐GM2—are essential for accurate diagnosis and the initiation of ...
Rua Alsaeed +3 more
wiley +1 more source
Repercussions of Diagnostic Delay in Rare Diseases
Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista +5 more
wiley +1 more source
Ocular facial myositis and sialadenitis presenting with new onset ulcerative colitis
JPGN Reports, Volume 7, Issue 3, Page 436-438, August 2026.Abstract Extra‐intestinal manifestations of inflammatory bowel disease (IBD) can involve most organ systems, although the immunologic underpinnings are not well understood. Most patients who present with an extra‐intestinal manifestation have a single site of extra‐intestinal involvement; however, a small cohort presents with multiple different sites ...
Nicole Du, Nicole Mendez, Anil Darbari
wiley +1 more source