Results 111 to 120 of about 24,774 (202)

Cardiovascular Health in Women—Across the Lifespan

Clinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar, Jessica Yao, Simone Gong, Madhuka Wijayarathne, Monique Watts, Swati Mukherjee   +5 more
wiley   +1 more source

A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Johanna Strobl, Peter Maximilian Heil
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Reversible cerebral vasoconstriction syndrome: A narrative review

Headache: The Journal of Head and Face Pain, Volume 66, Issue 5, Page 1162-1180, May 2026.
Abstract Objectives/Background This review summarizes current insights into Reversible cerebral vasoconstriction syndrome (RCVS) diagnosis, management, and outcomes. RCVS is a cerebrovascular disorder characterized by recurrent thunderclap headaches and transient segmental vasoconstriction of cerebral arteries, typically resolving within 3 months ...
Ícaro Araújo de Sousa, Abner da Silva Machado, Arthur de Oliveira Veras, Thiago Oscar Goulart, Sarah Galassi Tatsuta, Trajano Aguiar Pires Gonçalves, Eva Rocha, Octávio Marques Pontes‐Neto   +7 more
wiley   +1 more source

Fatal Aortic Rupture at Term Pregnancy Caused by Vascular Ehlers–Danlos Syndrome Diagnosed by Postmortem Genetic Testing Using Formalin‐Fixed, Paraffin‐Embedded Tissue

Journal of Obstetrics and Gynaecology Research, Volume 52, Issue 5, May 2026.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a life‐threatening connective tissue disorder that often remains undiagnosed before pregnancy and carries a markedly high risk of maternal mortality. We report the case of a 34‐year‐old pregnant woman who experienced sudden abdominal pain at 39 weeks of gestation and died shortly after delivery ...
Mari Tadakawa, Tomomi Yamaguchi, Hasumi Tomita, Noriyoshi Mochii, Hirotaka Hamada, Mari Tsubata, Tomoki Kosho, Yoko Aoki, Masatoshi Saito   +8 more
wiley   +1 more source

Interdisciplinary pain rehabilitation for patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders

Journal of Rehabilitation Medicine
Objective: Chronic pain is a common manifestation of Ehlers-Danlos syndrome and hypermobility spectrum disorders; thus it is often suggested that patients undergo generic interdisciplinary pain rehabilitation, despite there being little evidence to ...
Peter Molander, Mehmed Novo, Åsa Ringqvist, Andrea Hållstam, Hugo Hesser, Monika Löfgren, Britt-Marie Stålnacke, Björn Gerdle   +7 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant

Journal of Vascular Surgery Cases and Innovative Techniques
This is a case of a 46-year-old woman who presented with right common iliac artery dissection preceded by a left common iliac artery dissection and rupture 6 years earlier. Both iliac arteries required repair.
Amit Pujari, MD, Sherene Shalhub, MD, MPH, FACS, DFSVS   +1 more
doaj   +1 more source

Iliac artery aneurysm endoleak management in a patient with vascular Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques
Endovascular repair has traditionally been avoided in patients with connective tissue disorders. We describe successful treatment of multiple endoleaks of an expanding common iliac artery aneurysm previously treated with an endograft in a patient with ...
Mitri K. Khoury, MD, Matthew J. Eagleton, MD   +1 more
doaj   +1 more source