Results 131 to 140 of about 24,909 (251)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
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

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

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  

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

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

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

Vascular type Ehlers‐Danlos syndrome with intra‐abdominal hemorrhage due to ruptured hepatic aneurysm: A case report

Acute Medicine & Surgery
Background Vascular Ehlers‐Danlos syndrome has a high mortality rate due to hemorrhagic complications. Case Presentation We report a case of vascular‐type Ehlers‐Danlos syndrome diagnosed due to rupture of multiple celiac aneurysms.
Masaou Tanaka, Kentaro Ueda, Takafumi Yonemitsu, Shinobu Tamura, Akira Ikoma, Tetsuo Sonomura, Shigeaki Inoue   +6 more
doaj   +1 more source

Head and Neck Clinical Signs Associated With Diseases: A Scoping Review

Special Care in Dentistry, Volume 46, Issue 3, May/June 2026.
ABSTRACT Objective Clinical signs observed during head and neck examination offer important diagnostic clues. This scoping review aimed to identify key clinical signs in this region associated with diseases and syndromes and to map them according to their location. Methods An electronic literature search was performed in five databases (Embase, LILACS,
Helena Miguel Cotter, Mateus José Dutra, Gustavo Davi Rabelo, Ana Carolina Prado Ribeiro, Marcio Ajudarte Lopes, Márcio Diniz‐Freitas, Luiz Paulo Kowalski, Alan Roger Santos‐Silva, Caique Mariano Pedroso   +8 more
wiley   +1 more source