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Abstract Nuclear pore complexes serve as essential gatekeepers of the nuclear envelope, playing crucial roles in regulating transport across the nuclear envelope and maintaining compartmentalization between the nucleus a...

Abstract Background Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been...

Abstract Background Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder that is caused by C1-inhibitor (C1INH) deficiency or dysfunction. This scoping review sought to map recent advances...

Emily Kutrieb,1 Derek Weycker,1 Montserrat Vera-Llonch,2 Arthur Zbrozek,3 Kevin Ottino,1 William R Lumry4 1Avalere Health, Washington, DC, USA; 2Ionis Pharmaceuticals, Boston, MA, USA; 3Ionis Pharmaceuticals, Carlsbad, C...

Abstract Purpose Hereditary Angioedema (HAE) is a rare genetic condition characterised by unpredictable swelling episodes that can affect almost any part of the body, with throat swellings posing a potentially life-threa...

Abstract This update to the 2019 Canadian Hereditary Angioedema (HAE) Guideline broadens its focus to include the management of patients with HAE worldwide, building on its established international framework. It has bee...

Esraa Basalem,1 Nooran Badeeb1,2 1Department of Ophthalmology, King Fahad Armed Forces Hospital, Ministry of Defense Health Services, Jeddah, Saudi Arabia; 2Department of Surgery, Ophthalmology Division, College of Medic...

Introduction: Adrenal hemangiomas are rare benign vascular tumors of the adrenal gland and are most often discovered incidentally during imaging studies performed for unrelated conditions. Case presentation: We report th...

BackgroundAlthough drug rash with eosinophilia and systemic symptoms (DRESS) and anticonvulsant hypersensitivity syndrome are well-known complications of anti-seizure medications (ASMs), lesser-known immunologic complica...

Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also...

Abstract Introduction Thalassemia, a hereditary blood disorder characterized by abnormal hemoglobin production, is prevalent in malaria-endemic regions, particularly among individuals of African descent. This hemoglobino...

Background and AimsCHARGE syndrome (OMIM#214800) is a rare hereditary monogenic disease with an autosomal-dominant pattern of inheritance. It is characterized by multiple congenital malformations and is caused by pathoge...

Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiovascular disease, but the genetic etiology of nearly 50% of cases remains unclear. This case report describes two siblings in a non-consanguineous family who...

This report describes a rare case of a vascular-origin malignant tumor (intimal sarcoma or carcinosarcoma) extending from the right pulmonary hilum along the pulmonary artery in a 44-year-old man. The patient underwent r...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...

BackgroundCommon variable immunodeficiency (CVID) is diagnosed at ages ≥4 years with hypogammaglobulinemia across more than two immunoglobulin classes, leading to impaired vaccine responses, frequent infectious, autoim...