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Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Eur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
View Article and Find Full Text PDFChanges in CD4+CD25HIGH T cells and TGFβ1 levels in different stages of adult-onset type 1 diabetes.
J Med Biochem
November 2024
University of Belgrade, Faculty of Medicine, University Clinical Centre of Serbia, Clinic for Endocrinology, Diabetes and Metabolic Diseases, Belgrade.
Background: Previous studies suggested an important role of impairments in T cell subsets in different stages during type 1 diabetes (T1D) development, while data regarding CD25high T cells and transforming growth factor b1 (TGFβ1), both T regulatory associated, remains controversial. We analyzed the level of (a) CD25high T cells (b) TGFβ1 in 17 first-degree relatives of patients with T1D in stage 1 (FDRs1) (GADA+, IA-2+); 34 FDRs in stage 0 (FDRs0) (GADA, IA-2); 24 recent-onset T1D in insulin-requiring state (IRS); 10 patients in clinical remission (CR); 18 healthy, unrelated controls (CTR).
Methods: T cell subsets were characterized by two-color immunofluorescence staining and flow cytometry; TGFβ1 was determined by ELISA, GADA, and IA-2 by RIA.
Lateral rectus superior plication using non-absorbable sutures for adult onset esotropia.
Strabismus
January 2025
Department of Ophthalmology, Shamir Medical Center, Zerifin, Israel.
: divergence insufficiency esotropia is a common cause for acquired esotropia and diplopia in adults. We present a novel procedure, superior plication of the lateral rectus using non-absorbable sutures, to address this condition and analyze the surgical outcomes. : This is a retrospective cohort analysis.
View Article and Find Full Text PDFImproving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease: Considering Nonmotor Presentations.
Neurol Clin Pract
April 2025
Neurology, Vanderbilt University Medical Center, Nashville, TN.
Background: Huntington disease (HD) is a genetic neurodegenerative disorder. Given the focus on motor manifestations, nonmotor symptoms are frequently underappreciated in clinical evaluations, despite frequently contributing to primary functional impairment.
Recent Findings: A diagnosis of motor-onset as the definition of manifest symptoms misrepresents the complex nature of HD presentation.
Perifoveal vascular anomalous complex and telangiectatic capillaries: An overview of two entities potentially sharing a common pathophysiology.
Surv Ophthalmol
January 2025
School of Medicine, Vita-Salute San Raffaele University, Milan, Italy; Division of head and neck, Ophthalmology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. Electronic address:
Focal capillary ectasia in the macular region can manifest in distinct clinical scenarios, which can be categorized into 2 main entities: perifoveal vascular anomalous complex (PVAC) and telangiectatic capillaries (TelCaps). PVAC represents a primary, idiopathic condition, whereas TelCaps occur secondary to underlying vascular disorders, including diabetic macular edema and retinal vein occlusion. We provide a comprehensive analysis of these 2 entities, encompassing their clinical presentations, multimodal imaging findings, histological evidence, and differential diagnosis from other retinal microvascular abnormalities, such as Type 1 macular telangiectasia, adult-onset Coats disease, Type 3 macular neovascularization in age-related macular degeneration, and retinal arterial macroaneurysms.
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