Results 41 to 50 of about 53,595 (261)

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

Origin of the right vertebral artery from the right common carotid artery in the setting of an aberrant right subclavian artery: Case and retrospective review to determine frequency

Radiology Case Reports
Anomalies of the vertebral arteries are rare. The second most common vertebral artery anomaly is the right vertebral artery arising from the right common carotid artery in the setting of an aberrant right subclavian artery (ARSA).
David Becker-Weidman, MD, Arthur Parsee, MD, Abraham Ahmed, MD   +2 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A novel rat model of pulmonary artery embolism and the application value of lung ultrasound B‐lines in early‐stage pulmonary embolism

Animal Models and Experimental Medicine, EarlyView.
We report a novel embolus‐induced PE rat model prepared via the inferior vena cava under ultrasound guidance. The embolus employed featured a tubular plastic casing filled with thrombus. By minimizing the contact surface between plasmin and thrombus, it effectively restrains the elevated plasmin activity in rats.
Huide Ma, Shuangrui Wang, Honghui Li, Yaxing Zhang, Yuman Gao, Jie Zhou, Xia Xu, Rong Wu   +7 more
wiley   +1 more source

Intraoperative color-coded duplex ultrasound for safe surgical reduction of displaced hangman fractures in patients with atypical course of the vertebral artery: A case report of two patients

Trauma Case Reports, 2022
An atypical course of the vertebral artery can be medically relevant in displaced Hangman fractures, especially if the artery course runs within the fracture gap of the C2 isthmus. During surgical reduction, the artery can be occluded inside the fracture,
Katharina A.C. Oswald, Moritz C. Deml, Mirjam R. Heldner, David Seiffge, Sebastian F. Bigdon, Christoph E. Albers   +5 more
doaj   +1 more source

Unfused transverse foramen of the atlas vertebra in the Neandertal lineage fossils

The Anatomical Record, EarlyView.
Abstract In anatomically modern humans, the atlas can display an unfused transverse foramen (UTF) but currently the presence of UTF in the Neandertal lineage is uncertain due to a scarcity of prevalence studies and no exhaustive record of its presence throughout the entire hominin fossil record.
Asier Gómez‐Olivencia, Mikel Arlegi, Juan José Valenzuela‐Fuenzalida, Mathias Orellana‐Donoso, Juan Luis Arsuaga, Juan A. Sanchis‐Gimeno   +5 more
wiley   +1 more source

Does salinity make a difference—Kidney anatomy of Saimaa (Pusa saimensis) and Baltic ringed seals (Pusa hispida botnica)

The Anatomical Record, EarlyView.
Abstract As habitat salinity markedly differs between the endangered, freshwater‐dwelling Saimaa ringed seal (Pusa saimensis Nordquist, 1899) and the brackish water‐inhabiting Baltic ringed seal (Pusa hispida botnica Gmelin, 1788), we investigated whether this difference has resulted in morphological changes to their kidneys.
Heini Nihtilä, Juha Laakkonen
wiley   +1 more source

The skeleton of the green Iguana iguana (Squamata: Iguanidae) and its intraspecific morphological variation

The Anatomical Record, EarlyView.
Abstract The green iguana (Iguana iguana) is an iguanine lizard with herbivorous and arboreal habits, whose distribution spans through South America, Central America to the south of North America. Although the genus Iguana is well‐known, the species still lacks a comprehensive and up‐to‐date anatomical study, particularly addressing the axial skeleton,
Vieno Rosa, Marcos Vinícius Coelho, Camila Cupello   +2 more
wiley   +1 more source