Results 151 to 160 of about 1,474,438 (314)
A rare presentation of a rare disease
Egyptian Journal of Bronchology, 2014 Castleman's disease, a rare condition of uncertain etiology, is associated with lymphoproliferation. It is histologically and prognostically distinct from malignant lymph node hyperplasia. We report a case of a female patient who presented with interstitial lung disease and mediastinal lymphadenopathy, not responding to usual treatment.
openaire +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
A Rare Case Of Pigmented Mammary Paget Disease
En Hyung Kim,1,2,* Wonnam Kim,3,* Ji Yeoun Lee1,2 1Department of Dermatology, College of Medicine, Chungbuk National University, Cheongju, Chungbuk, South Korea; 2Department of Dermatology, Chungbuk National University Hospital, Cheongju,
Kim EH, Kim W, Lee JY
core
Rosai-Dorfman disease (RDD), or sinus histiocytosis with massive lymphadenopathy, is a rare histiocytic disorder that often mimics malignancies and immune-mediated conditions such as IgG4-related disease (IgG4-RD).
Julia Maria Sołek +6 more
core +1 more source
Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock +4 more
wiley +1 more source
Care for Rare: Spotlight on Rare Diseases [PDF]
Trends in Pharmacological Sciences, 2019 openaire +2 more sources
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Neurology and TherapyIntroduction Anti-aquaporin-4 antibody-positive (AQP4-Ab+) neuromyelitis optica spectrum disorder (NMOSD) is a complement-mediated autoimmune disease in which unpredictable and relapsing attacks on the central nervous system cause irreversible and ...
Stacey L. Clardy +10 more
doaj +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source