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Case report: Successful treatment with spesolimab of acrodermatitis continua of Hallopeau in an older patient without mutations.
Front Immunol
January 2025
Department of Dermatology, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Institue of Psoriasis, Tongji University School of Medicine, Shanghai, China.
Background: Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular psoriasis variant refractory to many conventional treatments. The eruption typically occurs after local trauma or infection; other etiologies include neural, inflammatory, and genetic causes. Herein we reported a single case of a 64-year-old patient with ACH that was successfully treated with spesolimab for 19 weeks.
View Article and Find Full Text PDFIncreased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).
Pediatr Rheumatol Online J
January 2025
Laboratory of Autoimmunity and Inflammation, Center for Clinical, Biomedical Research Foundation, Experimental Surgery and Translational Research, Academy of Athens, Athens, Greece.
Background: Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.
Case And Methods: A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS.
Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.
View Article and Find Full Text PDFTrends in Rheumatoid Hand Surgery: Indications, Techniques, and Outcomes.
J Clin Med
January 2025
Department of Orthopaedic Surgery, School of Medicine, International University of Health and Welfare (IUHW), Narita Hospital, 852 Hatakeda, Narita 286-8520, Japan.
Rheumatoid arthritis (RA) causes persistent synovitis and arthritis, resulting in joint deformity and destruction throughout the body. As RA medications have evolved over the past 30 years, the surgical indications and techniques for RA joint deformities have changed. The aim of this review article is to summarize the recent trend of surgery for rheumatoid hand/finger deformities in previous reports and to present our recent surgical methods and outcomes for these deformities.
View Article and Find Full Text PDFDesign of Dielectric Elastomer Actuator and Its Application in Flexible Gripper.
Micromachines (Basel)
January 2025
Zhejiang Sunny Optical Company, Yuyao 315400, China.
Dielectric elastomer actuators (DEAs) are difficult to apply to flexible grippers due to their small deformation range and low output force. Hence, a DEA with a large bending deformation range and output force was designed, and a corresponding flexible gripper was developed to realize the function of grasping objects of different shapes. The relationship between the pre-stretch ratio and DEA deformation degree was tested by experiments.
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