Diabetes, Obesity and Metabolism, Volume 28, Issue 2, Page 1201-1212, February 2026.Abstract Aims Health‐related quality of life (HRQoL) assessment is increasingly integrated into type 1 diabetes (T1D) monitoring to promote a holistic approach. To investigate HRQoL in adults with T1D and to assess the impact of the severity of complications on HRQoL.
Sara Barraud +20 more
wiley +1 more source
Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort
European Journal of Neurology, Volume 33, Issue 2, February 2026.In this study, we clinically characterized a Swedish cohort with biallelic RFC1 expansions by retrospectively enrolling 30 patients from a tertiary center and analyzing their clinical, genetic, and detailed phenotypic features. Our results suggest a Swedish founder effect in the Norrbotten region and indicate that RFC1‐spectrum disorder should be ...
Victor Alm +12 more
wiley +1 more source
Validation of a Trained AI Imaging Model for Detecting Diabetic Foot Deformities
International Wound Journal, Volume 23, Issue 2, February 2026.ABSTRACT Diabetes is a leading cause of morbidity and mortality, contributing to complications such as cardiovascular disease, kidney failure and lower‐limb amputations. Diabetic foot complications, such as structural deformities, ulceration and infection, present significant risks, necessitating early detection and intervention.
Kher Li Teoh +3 more
wiley +1 more source
Hereditary Sensory and Autonomic Neuropathy Type V: A Rare Case Report [PDF]
, 2020 Shilpa S Sasalawad
openalex +1 more source
Acute and chronic neuropathies [PDF]
, 2020 Peripheral nerve disorders are common and often treatable. The ‘default’ presentation of a polyneuropathy is a chronic, length-dependent, sensorimotor axonopathy.
Ginsberg, L
core
How Often Are Hospitalised Children Physically Restrained During Painful and Stressful Procedures?
Journal of Clinical Nursing, Volume 35, Issue 2, Page 822-838, February 2026.ABSTRACT Aim To analyse the incidence of physical restraint use during painful and stressful procedures in hospitalised children, as well as the factors associated with its use. Design Observational, longitudinal and prospective study. Methods Children aged between 28 days and 10 years in a public hospital in Brazil were each observed undergoing ...
Danton Matheus de Souza +5 more
wiley +1 more source
Identification of dietary alanine toxicity and trafficking dysfunction in aDrosophilamodel of hereditary sensory and autonomic neuropathy type 1 [PDF]
, 2015 Matthew C. W. Oswald +3 more
openalex +1 more source
Plasma deoxysphingolipids: a novel class of biomarkers for the metabolic syndrome? [PDF]
, 2018 Aims/hypothesis: Sphingolipid synthesis is typically initiated by the conjugation of l-serine and palmitoyl-CoA, a reaction catalysed by serine palmitoyltransferase (SPT). SPT can also metabolise other acyl-CoAs (C12 to C18) and other amino acids such as
Bianchi, R. +10 more
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Case report: Hereditary sensory autonomic neuropathy presenting as bifid deformity to the tongue [PDF]
, 2023 Kelsey O’Hagan-Wong +3 more
openalex +1 more source
Novel mutation in the methyltransferase domain of
, 2014 Hideaki Nishihara +9 more
openalex +1 more source