Results 41 to 50 of about 19,355 (211)

Embedding Pharmacogenetics Into Clinical Practice to Improve Patient Outcomes

Annals of Human Genetics, EarlyView.
ABSTRACT Pharmacogenomics, the use of germline genomic data to guide prescription to improve effective and safer medication, holds promise as a clinical intervention. To date in most health systems, there has been limited uptake of pharmacogenomic testing confined to a few single drug–gene associations.
John Henry McDermott, Videha Sharma, Jessica Keen, William Gerard Newman   +3 more
wiley   +1 more source

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

Clinical Genetics, EarlyView.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest, Annelies E. van der Hulst, Gerard Pals, Lidiia Zhytnik, Lillian Lai, Caroline Jacquemart, Lindsay Mills, Michiel Houben, Petr Jira, Bert L. Lunshof, Jessica Warnink‐Kavelaars, Vivian de Waard, Leonie A. Menke   +12 more
wiley   +1 more source

Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1

Stem Cell Research, 2021
Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome
Suihan Wu, Zhendong Zhang, Lei Wang, Jin Yu   +3 more
doaj  

THE CONDITION OF DISTAL AORTA AFTER PROXIMAL RECONSTRUCTION FOR DISSECTION IN MARFAN SYNDROME

Российский кардиологический журнал, 2016
Marfan syndrome is a disease associated with high prevalence of aorta-related morbidity and mortality. Dissections and ruptures of thoracal aorta (ThAo) lead to decreased life duration in persons with Marfan syndrome with mediana at 30 year-old.Aim.
A. M. Chernyavskiy, M. M. Lyashenko, D. A. Sirota, S. A. Alsov, D. S. Khvan   +4 more
doaj   +1 more source

Characterisation of spinal ligaments in the embryonic chick

Journal of Anatomy, EarlyView.
Use of the embryonic chick provides an opportunity to examine the maturation of spinal ligaments during development, to inform anatomical defects in the spine. Abstract Ligaments are important connective tissues within the musculoskeletal system that connect bone to bone and provide support and stability.
Sarah Hennigan, Ebru Talak Basturkmen, Rebecca A. Rolfe   +2 more
wiley   +1 more source

Treatment of L5–S1 Spondyloptosis via Posterior‐Only L5 Partial Spondylectomy and Reduction of L4 Onto S1: Surgical Technique and Case Series

Orthopaedic Surgery, EarlyView.
Spondyloptosis (Grade‐V spondylolisthesis) is the most severe form of spondylolisthesis and presents significant surgical challenges due to its rarity and complexity. A modified posterior‐only approach technique is reported. Posterior‐only L5 partial spondylectomy with L4–S1 reduction is a feasible and effective treatment for lumbar spondyloptosis ...
Xinhu Guo, Weishi Li
wiley   +1 more source

Management of Marfan Syndrome, with a Specific Focus on the Significance of Physical Activity in this Patient Population

Quality in Sport
Introduction: Marfan syndrome is an autosomal dominant disorder of connective tissue. Timely diagnosis and effective therapy are essential for individuals with Marfan syndrome, as they are susceptible to severe cardiovascular consequences, including ...
Patrycja Jędrzejewska-Rzezak
doaj   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Anesthetic management of a patient with Marfan syndrome and severe aortic root dilatation undergoing cholecystectomy and partial hepatic resection

Saudi Journal of Anaesthesia, 2013
Due to high mortality associated with aortic dissection, anesthetic management of patients with Marfan syndrome with severe aortic root dilation is a challenging situation.
Tanmoy Ghatak, Sukhen Samanta, Sujoy Samanta   +2 more
doaj   +1 more source

Refractory heart failure due to acquired aortic coarctation after total arch replacement: find the right antidote!

ESC Heart Failure, Volume 12, Issue 3, Page 2391-2395, June 2025.
Abstract A 31‐year‐old male presented with unexplainable symptoms of heart failure including recurrent fatigue and orthopnoea after total arch replacement for type A aortic dissection 2 months ago. Computed tomography angiography detected a severe intra‐luminal stenosis, and we successfully implanted a balloon‐expandable stent to dilate the stenosis ...
Yi Xie, Chen Lu, Jia Hu
wiley   +1 more source