Abstract The island syndrome is a widespread biological phenomenon that describes a suite of morphological, behavioural, demographic and life‐history changes associated with island dwelling. These similar evolutionary responses among disparate groups of animals and plants represent a remarkable case of convergent evolution.
Michał T. Jezierski+2 more
wiley +1 more source
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-centre, single-arm, open-label trial [PDF]
Background Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by a mutation in the ALMS1 gene and characterised by childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabetes and extreme ...
Baig, S+8 more
core +2 more sources
Is A Quantum Stabilizer Code Degenerate or Nondegenerate for Pauli Channel? [PDF]
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
Clinical phenotypes of adults with monogenic and syndromic genetic obesity
Abstract Objective Considering limited evidence on diagnostics of genetic obesity in adults, we evaluated phenotypes of adults with genetic obesity. Additionally, we assessed the applicability of Endocrine Society (ES) recommendations for genetic testing in pediatric obesity.
Mila S. Welling+9 more
wiley +1 more source
Characterisation of infantile cardiomyopathy in Alström Syndrome using ALMS1 Knockout induced pluripotent stem cell derived cardiomyocyte model [PDF]
Alström syndrome (AS) is an inherited rare ciliopathy characterised by multi -organ dysfunction and premature cardiovascular disease. This may manifest as an infantile -onset dilated cardiomyopathy with significant associated mortality.
Azad, Amar+13 more
core +1 more source
Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management? [PDF]
A goal of personalized medicine is to provide increasingly sophisticated, individualized approaches to management and therapy for disease. Genetics is the engine that drives personalized medicine, holding the promise of therapeutics directed toward the ...
Lee, Teresa M., Ware, Stephanie M.
core +1 more source
IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence
Summary Nearly 90 clinicians and researchers from around the world attended the first IMPROVE 2022 International Meeting on Pathway‐Related Obesity. Delegates attended in person or online from across Europe, Argentina and Israel to hear the latest scientific and clinical developments in hyperphagia and severe, early‐onset obesity, and set out a vision ...
Peter Kühnen+18 more
wiley +1 more source
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]
Background: Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
Aymé, Ségolène+13 more
core +1 more source
CircALMS1 Alleviates Pulmonary Microvascular Endothelial Cell Dysfunction in Pulmonary Hypertension
Background Circular RNAs can serve as regulators influencing the development of pulmonary hypertension (PH). However, their function in pulmonary vascular intimal injury remains undefined.
Xiaoyi Hu+15 more
doaj +1 more source
Syndrome Measurement Order for the [[7,1,3]] Quantum Error Correction Code [PDF]
In this work we explore the accuracy of quantum error correction depending of the order of the implemented syndrome measurements. CSS codes require bit-flip and phase flip-syndromes be measured separately. To comply with fault tolerant demands and to maximize accuracy this set of syndrome measurements should be repeated allowing for flexibility in the ...
arxiv