Results 81 to 90 of about 3,939 (213)
Optimal Single-Shot Decoding of Quantum Codes [PDF]
arXiv, 2023 We discuss single-shot decoding of quantum Calderbank-Shor-Steane codes with faulty syndrome measurements. We state the problem as a joint source-channel coding problem. By adding redundant rows to the code's parity-check matrix we obtain an additional syndrome error correcting code which addresses faulty syndrome measurements.
arxiv
Hypertension Precedes Metabolic Syndrome in the ALMS1 (Alstrom Syndrome 1) Knockout Rat
The FASEB Journal, 2018 We previously found that Alstrom syndrome 1 protein (ALMS1) is expressed in the kidney where it regulates thick ascending limb (TAL) NaCl reabsorption by controlling NKCC2 endocytosis. In humans, inactivating mutations in the ALMS1 gene causes obesity, insulin resistance and hypertension (metabolic syndrome).
Keyona N. King‐Medina, Pablo A. Ortiz
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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria [PDF]
European Journal of Medical Genetics, 2014 We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative ...
Emma Curtis +8 more
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Methods to Assess Neuronal Primary Cilia Electrochemical Signaling
Journal of Cellular Physiology, Volume 240, Issue 4, April 2025.Hippocampal neuron primary cilia are illuminated with a fluorescent biosensor. ABSTRACT Primary cilia are polymodal sensory organelles which project from the apical side of polarized cells. They are found in all brain hemispheres but are most pronounced in neurons, which comprise the granular layers of the hippocampus and cerebellum.
Paul G. DeCaen, Louise F. Kimura
wiley +1 more source
Tracheostomy as a Management Option After Listing for Pediatric Cardiac Transplantation
Pediatric Transplantation, Volume 29, Issue 1, February 2025.Tracheostomy after listing for pediatric cardiac transplantation is a safe adjunct to assist progress. We show minimal side effects and no difference in survival between those with tracheostomy and those without over the full follow‐up period. ABSTRACT Background Children with end‐stage heart failure listed for cardiac transplantation may require ...
Elisabeth Day +4 more
wiley +1 more source
A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report
Clinical Case Reports, Volume 13, Issue 1, January 2025.ABSTRACT Wolfram syndrome is an extremely rare condition composed of a tetrad of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. When concurrently presenting with another condition, such as tuberculous meningitis, the widespread range of resulting symptoms delays the establishment of diagnosis and treatment, which results in ...
Nabiha Khan +6 more
wiley +1 more source
Derivation of cochlear cells from pathological or isogenic human iPSCs for modeling hereditary hearing loss [PDF]
, 2016 Alström Syndrome (AS) is a human autosomal recessive genetic disorder characterized by numerous clinical symptoms including deafness. AS is caused by mutations in the ALMS1 gene encoding for ALMS1 protein expressed at the basal body and implicated in ...
Czajkowski, Amandine +5 more
core
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
Clinical Endocrinology, Volume 102, Issue 1, Page 51-61, January 2025.ABSTRACT Background Paediatric obesity is a global public health concern. While in most countries the incidence keeps rising, the need for effective and long‐term management for children and adolescents living with this chronic, relapsing disease is pressing.
Gabriel Torbahn +6 more
wiley +1 more source
Expression Quantitative Trait Loci for ALMS1 and Their Influence on the Symptoms of Alstrom Syndrome [PDF]
INTERNATIONAL JOURNAL OF HUMAN GENETICS, 2019 Chaeyoung Lee
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