Results 51 to 60 of about 47,085 (218)

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Multimodal imaging of type 1 aneurysmal telangiectasia in a Turkish female with giant arteriovenous aneurysmal malformation

Therapeutic Advances in Ophthalmology, 2019
We present a case with giant arteriovenous aneurysmal malformation with different imaging modalities, including fundus photography, fundus fluorescein angiography, spectral domain optical coherence tomography, and optical coherence tomography angiography.
Yasin Sakir Goker, Mehmet Yasin Teke, Pinar Cakar Ozdal, Abdulvahit Demir   +3 more
doaj   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Aneurysmal bone cyst of the rib: a case report

Journal of Medical Case Reports, 2009
Introduction An aneurysmal bone cyst is a benign, but expansile tumor like lesion that generally occurs in the long bones including the vertebral column. An aneurysmal bone cyst arising from the rib, especially in the elderly, is extremely rare.
Yasaroglu Murat, Ketenci Bulend, Demirbag Hatice, Yildirim Mehmet, Dogusoy Ilgaz   +4 more
doaj   +1 more source

Infectious complications of aneurysmal subarachnoid hemorrhage

Ендоваскулярна нейрорентгенохірургія, 2020
Objective ‒ to assess the incidence of infectious complications in patients with aneurysmal subarachnoid hemorrhage (SAH); to determine the effect of the complicated course of aneurysmal SAH on the incidence of nosocomial infection. Materials and methods.
О.Yu. Polkovnikov, A.М. Materukhin, V.S. Kosyanchuk, N.О. Polkovnikova   +3 more
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Cerebrospinal Fluid Amyloid‐β Biomarkers Predict Future Hemorrhage in Patients with Cerebral Amyloid Angiopathy

Annals of Neurology, EarlyView.
Objective Accurately predicting future hemorrhagic events in patients with cerebral amyloid angiopathy (CAA) remains a major clinical challenge. It is unknown whether cerebrospinal fluid (CSF) biomarkers of amyloid‐beta (Aβ) pathology are associated with increased hemorrhage risk in this population.
Philipp Arndt, Malte Pfister, Valentina Perosa, Hendrik Mattern, Melis Tas, Lara Holzheimer, Johanna Engel, Marc Dörner, Marwa Al‐Dubai, Cornelia Garz, Eya Khadhraoui, Sebastian J. Müller, Patrick Müller, Sven G. Meuth, Katja Neumann, Stefanie Schreiber   +15 more
wiley   +1 more source

Aneurysmal Bone Cyst In Metacarpal of a Child

Journal of Orthopaedic Case Reports, 2013
Introduction: Aneurysmal bone cyst is a rare, rapidly growing, and destructive benign bone tumor that rarely involves the bones of the hand. Various treatment options for aneurysmal bone cyst have been reported in the literature, but controversy exists ...
Pankaj Singh, Rupesh Kumar
doaj   +1 more source