Results 61 to 70 of about 99,917 (354)

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

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

A case of multiple Vertebrobasilar artery fenestration misdiagnosed as vertebral artery dissection

BMC Neurology, 2020
Background Fenestration of vertebra-basilar artery is an uncommon congenital vascular anomaly, which is identified by incidental findings on imaging in patients presented without related symptoms or in patients with intracerebral hemorrhage secondary to ...
Feng Wang, Xiaokai Wang, Xiaohua Li, Huifeng Zheng, Zhiyong Zhang   +4 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Vertebral Artery Loop Formation Depicted on Oblique Sagittal MR Imaging: A Case Report

대한영상의학회지, 2015
Vertebral artery loop formation is an anatomic variation that possibly causes cervical nerve root compression, leading to cervical radiculopathy. A few cases of vertebral artery loop formation depicted with conventional sagittal magnetic resonance ...
Sun Woo Bang, Kyung Ream Han, Mi Kyung Lee, Hyung Nam Kim, Jae Il Han, Mi Na Park, Chan Kim   +6 more
doaj   +1 more source

Recovery from repeated sudden hearing loss in a patient with Takayasu’s arteritis treated with hyperbaric oxygen therapy: the first report in the literature [PDF]

, 2017
Hearing loss has been rarely reported in Takayasu's arteritis, presents as sudden sensorineural hearing loss and usually responds well to corticosteroid therapy.
ALTISSIMI, Giancarlo, CIANFRONE, Giancarlo, De Fazio, Sara, DE VINCENTIIS, Marco, FALASCA, VINCENZO, GRECO, Antonio, RALLI, MASSIMO, TOMBOLINI, MARIO, TURCHETTA, Rosaria   +8 more
core   +3 more sources

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

The Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc, Tommaso Gerussi, Bruno Cozzi, Rebecca M. Boys, Brian Chin Wing Kot, Matthew R. Perrott, Kane Fleury, Tabris Yik To Chung, Henry Chun Lok Tsui, Emma Burns, Trudi Webster, Stuart Hunter, Emma L. Betty, Odette Howarth, Carolina Loch, Sophie White, Steve Dawson, William Rayment, Ros Cole, Derek Cox, Tom Waterhouse, Hannah Hendriks, Anton van Helden, Muriel Johnstone, Ramari Oliphant Stewart, R. Ewan Fordyce, Karen A. Stockin   +26 more
wiley   +1 more source

HISTOMORPHOMETRIC COMPARISON OF DIAMETER OF RIGHT AND LEFT VERTEBRAL

National Journal of Medical Research, 2022
 Introduction: It is evident that slight changes in the diameter of a vessel cause tremendous changes in its ability to conduct blood when the blood flow is streamline. The conduction of vessel increases in proportion to the diameter.
Jitendra D Rawal , Hrishikesh R Jadav
doaj