Results 51 to 60 of about 7,212 (260)

Ataxia telangiectasia

Seminars in Pediatric Neurology
Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable oculocutaneous telangiectasias in the school age years. While its name only hints at neurologic and cutaneous
John Collyer, Deepa S Rajan
openaire   +2 more sources

Association of Elevated Platelets and C‐Reactive Protein With Severe Disease and Poor Survival in Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective Elevated C‐reactive protein (CRP) levels in systemic sclerosis (SSc) have been linked with severe disease and worse survival, but the role of platelet levels remains unclear. This study examined whether elevated platelet levels, CRP levels, or both are associated with disease severity, progression, and survival in SSc.
Brian S. Lee, Shufeng Li, Srijana Davuluri, Jennifer Lee, Lorinda Chung   +4 more
wiley   +1 more source

Facial Cosmetic Therapy Use Among Patients With Systemic Sclerosis: An Australian Cohort Study

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is associated with numerous facial manifestations for which patients may engage in cosmetic therapies. It is unclear how patients with SSc use these therapies. This study sought to characterize patient engagement and experiences with cosmetic therapies for SSc‐related and non‐SSc–related facial changes.
Zachary Warren, Diane Apostolopoulos, Gene‐Siew Ngian, Amanda M. Saracino, Laura Ross, Nava Ferdowsi, Jennifer Walker, Cindy Hall, Kim Griggs, Susanna Proudman, Wendy Stevens, Joanne Sahhar   +11 more
wiley   +1 more source

Microvascular damage is associated with carotid wall structural changes in Systemic Sclerosis: a capillaroscopy and ultrasound‐based observational study

Arthritis Care &Research, Accepted Article.
Introduction Systemic sclerosis (SSc) is characterized by cardiovascular risk excess not fully explained by traditional factors. Whether the severity of microvascular damage correlates with structural subclinical atherosclerosis remains unclear. We investigated the relationship between nailfold videocapillaroscopy (NVC) abnormalities and carotid ...
Eugenio Capparelli, Luca Clerici, Francesco Lapia, Giusy C. Moltisanti, Eleonora Zaccara, Greta Pellegrino, Daniela Bompane, Francesca Capelli, Letizia Ferrami, Laura Castelnovo, Antonio Tamburello, Maria Sole Chimenti, Paola Faggioli, Antonino Mazzone   +13 more
wiley   +1 more source

Advancing Human Skin Equivalents: The Crucial Role of Neurovascular Integration

Advanced Healthcare Materials, EarlyView.
This review discusses the importance of integrating vascular and peripheral nerve systems into human skin equivalents (HSEs) to better recapitulate native skin physiology. Recent advances in vascularized, innervated, and neurovascularized HSEs are highlighted, together with emerging bioengineering strategies, current challenges, and future ...
Hao Wu, Lorenzo Moroni, Nicolas Lebonvallet, Vincent Flacher, Paul Wieringa   +4 more
wiley   +1 more source

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

Advanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin, Yangchang Zhang, Yang Pu, Duanke Liu, Tao Lei, Kai Ma, Qiyu He, Zheng Dou, Yuze Liu, Dengyuan Liu, Yinge He, Yanshang Wang, Xiaojiao Zheng, Yanbing Ma, Jianrong Zhou, Weiding Zhai, Binbin Su, Li Chen, Shoujun Li   +18 more
wiley   +1 more source

Insights Into the Mechanisms of Biological Aging That Guide Translational and Clinical Research

AGING MEDICINE, EarlyView.
Cellular NAD+ levels can be augmented through supplementation with precursors such as nicotinamide (NAM), nicotinamide riboside (NR), and nicotinamide mononucleotide (NMN). Accumulating preclinical and clinical evidence suggests that NAD+ repletion attenuates both pathological (premature or accelerated) and chronological aging, thereby extending ...
Evandro Fei Fang, Hilde Nilsen, Morten Scheibye‐Knudsen, Vilhelm A. Bohr, Lin Kang   +4 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Telangiectatic Mastocytosis: If It Is Not Mastocytosis, What Is It? Comment on Brockow et al. Challenges in the Diagnosis of Cutaneous Mastocytosis. Diagnostics 2024, 14, 161

Diagnostics
We read with great interest the recent review of Brockow et al [...]
Francisco Urbina, Alicia Benavides
doaj   +1 more source

Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

Case Reports in Pediatrics, 2015
Ataxia-telangiectasia (A-T) is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for ...
Fatma Deniz Aygün, Serdar Nepesov, Haluk Çokuğraş, Yıldız Camcıoğlu   +3 more
doaj   +1 more source