Results 51 to 60 of about 20,352 (198)

Strabismic syndromes and syndromic strabismus - a brief review [PDF]

arXiv, 2015
Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g.
arxiv  

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

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta‐analysis

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis, E. Demertzidou, A. Ververi, E. Tsakmaki, C. Chatzakis, F. Mone   +5 more
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

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

Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia

Asian Journal of Surgery, 2017
Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature ...
Shruti Thakur, Anupam Jhobta, Brij Sharma, Arun Chauhan, Charu S. Thakur   +4 more
doaj   +1 more source

Syndrome Measurement Strategies for the [[7,1,3]] Code [PDF]

arXiv, 2015
Quantum error correction (QEC) entails the encoding of quantum information into a QEC code space, measuring error syndromes to properly locate and identify errors, and, if necessary, applying a proper recovery operation. Here we compare three syndrome measurement protocols for the [[7,1,3]] QEC code: Shor states, Steane states, and one ancilla qubit by
arxiv  

The Marfan syndrome genetics

Zdravniški Vestnik, 2005
Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
doaj  

Is A Quantum Stabilizer Code Degenerate or Nondegenerate for Pauli Channel? [PDF]

arXiv, 2010
Mapping an error syndrome to the error operator is the core of quantum decoding network and is also the key step of recovery. The definitions of the bit-flip error syndrome matrix and the phase-flip error syndrome matrix were presented, and then the error syndromes of quantum errors were expressed in terms of the columns of the bit-flip error syndrome ...
arxiv  

Syndrome-aware Herb Recommendation with Multi-Graph Convolution Network [PDF]

arXiv, 2020
Herb recommendation plays a crucial role in the therapeutic process of Traditional Chinese Medicine(TCM), which aims to recommend a set of herbs to treat the symptoms of a patient. While several machine learning methods have been developed for herb recommendation, they are limited in modeling only the interactions between herbs and symptoms, and ...
arxiv