Results 91 to 100 of about 384,301 (315)

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

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Homelessness Service Usage Patterns of 30,000 Homeless and At‐Risk Households: The Melbourne Access Point Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Over the last three decades, overseas researchers have utilised administrative data to identify distinct patterns in shelter use. In Australia, the use of administrative data to understand service utilisation patterns among people ‘at risk’ of homelessness and experiencing homelessness is limited.
Godwin Kavaarpuo, Kathryn Daley, Guy Johnson   +2 more
wiley   +1 more source

Chest pain [PDF]

Postgraduate Medical Journal, 1996
openaire   +2 more sources

Biocompatibility and healing patterns in experimentally induced canine tibial fractures using Pedicle screw‐Rod external fixation

Animal Models and Experimental Medicine, EarlyView.
This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran, Ramin Mazaheri‐Khameneh, Seyed Mohammad Hashemi‐Asl, Rahim Hobbenaghi   +3 more
wiley   +1 more source

Renal vessel–assisted anastomosis improves the abdominal heart transplant model in rats without bilateral lower limb ischemia

Animal Models and Experimental Medicine, EarlyView.
A modified heterotopic heart transplantation (HTx) in rats was reported to improve the surgical success rate, in which the donor's vessels, the brachiocephalic trunk (BT) and the pulmonary artery (PA), were sutured to the recipient's left renal artery (RA) and left renal vein (RV).
Meng Wang, Wuxia Wang, Xunfeng Zou
wiley   +1 more source

Ultrasound-guided interventions for controlling the thoracic spine and chest wall pain: a narrative review [PDF]

, 2022
Donghwi Park, Min Cheol Chang
openalex   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Rationale and design of a cohort study evaluating triage of acute chest pain in out-of-hours primary care in the Netherlands (TRACE) [PDF]

, 2020
Amy Manten, Cuny Cuijpers, Remco P Rietveld, E. H. Groot, Freek van de Graaf, Sandra Voerman, Jelle C L Himmelreich, Wim A M Lucassen, Henk van Weert, Ralf E. Harskamp   +9 more
openalex   +1 more source

Meningococcal Chest Pain [PDF]

Journal of the Royal Society of Medicine, 2004
Kenneth, Hodson, Umakant, Dave, Ann, Lewis   +2 more
openaire   +2 more sources