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Loeys-Dietz Syndrome Presenting with an Abdominal Aortic Aneurysm: A Case Report.
Ann Vasc Dis
December 2024
Division of Vascular Surgery, Department of Cardiovascular Surgery, Tokyo Medical and Dental University, Tokyo, Japan.
Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder associated with vascular involvement and craniofacial, skeletal, and cutaneous abnormalities. Herein, we describe the case of a 28-year-old female who presented with a pulsatile mass in her abdomen. Imaging studies revealed multiple aneurysms, including a 53-mm abdominal aortic aneurysm (AAA) and tortuosity of the intracranial arterial vasculature.
View Article and Find Full Text PDFPractical recommendations for therapy and monitoring of mogamulizumab patients in Germany.
J Dtsch Dermatol Ges
December 2024
Department of Dermatology, Venereology, Allergology and Phlebology, Johannes Wesling Clinic, University Hospital of the Ruhr University Bochum, Bochum, Germany.
Mycosis fungoides (MF) and Sézary syndrome (SS) are the most common subtypes of the heterogeneous group of cutaneous T-cell lymphomas (CTCL). With the expansion of the biologic treatment landscape, new treatment options have become available in recent years, most notably the C-C chemokine receptor 4 (CCR4)-directed monoclonal antibody mogamulizumab. Based on the phase III pivotal trial, mogamulizumab is recommended by the German S2k guidelines for the second-line treatment of stage IB and above SS and MF, after at least one prior systemic therapy.
View Article and Find Full Text PDFReduced ATR Signaling Contributes to Endothelial Dysfunction After Preeclampsia.
Hypertension
December 2024
Department of Health and Human Physiology, The University of Iowa, Carver College of Medicine, Iowa City, IA. (K.S.S., A.E.S.).
Background: Women who had preeclampsia (a history of preeclampsia) have a >4-fold risk of developing cardiovascular disease compared with women who had an uncomplicated pregnancy (history of healthy pregnancy). Despite the remission of clinical symptoms after pregnancy, vascular endothelial dysfunction persists postpartum, mediated in part by exaggerated Ang II (angiotensin II)-mediated constriction. However, the role of vasodilatory ATRs (Ang II type 2 receptors) in this dysfunction is unknown.
View Article and Find Full Text PDFVitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.
Pediatr Dermatol
December 2024
Paediatric Endocrinology Division, Department of Paediatrics, Christian Medical College Vellore, Vellore, Tamil Nadu, India.
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.
View Article and Find Full Text PDFTumour necrosis factor-like weak inducer of apoptosis participates in the development of cutaneous fibrosis in an experimental systemic sclerosis model.
Clin Exp Rheumatol
December 2024
Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Objectives: Systemic sclerosis (SSc), a chronic autoimmune disorder, characterised by local inflammation and progressive fibrosis. Tumour necrosis factor-like weak inducer of apoptosis (TWEAK) has been established as a key mediator in fibrotic processes across multiple organs, primarily through binding to its receptor, fibroblast growth factor-inducible 14 (Fn14). However, the precise role of the TWEAK/Fn14 signalling in SSc pathogenesis remains unclear.
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