Four versions of the novel Moletest on-device signal-processing analysis software, delivered on a single-application iPadPro11, were evaluated in pigmented skin lesions of patients sent for biopsy comparing its results with the lesion histology. The primary objective was to demonstrate that the nomela test provided at least 95 ± 2% sensitivity for not-melanoma. Proprietary software recognised the lesion perimeter, rejecting images with uncertain border, and performed analysis using non-scalar metrics of the image within the perimeter.
View Article and Find Full Text PDFThe Ehlers-Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility and generalized tissue fragility. In all types of EDS, skin wound healing is impaired to a variable degree. Additional support through wound management plans may help to improve these outcomes; however, there is a paucity of evidence regarding clinical management of skin fragility and wounds in EDS.
View Article and Find Full Text PDFWhile many 3D structures of cation-coupled transporters have been determined, the mechanistic details governing the obligatory coupling and functional regulations still remain elusive. The bacterial melibiose transporter (MelB) is a prototype of major facilitator superfamily transporters. With a conformation-selective nanobody, we determined a low-sugar affinity inward-facing Na-bound cryoEM structure.
View Article and Find Full Text PDFBackground: Simultaneous urine testing for albumin (UAlb) and serum creatinine (SCr), that is, 'dual testing,' is an accepted quality measure in the management of diabetes. As chronic kidney disease (CKD) is defined by both UAlb and SCr testing, this approach could be more widely adopted in kidney care.
Objective: We assessed time trends and facility-level variation in the performance of outpatient dual testing in the integrated Veterans Health Administration (VHA) system.
While many 3D structures of cation-coupled transporters have been determined, the mechanistic details governing the obligatory coupling and functional regulations still remain elusive. The bacterial melibiose transporter (MelB) is a prototype of the Na-coupled major facilitator superfamily transporters. With a conformational nanobody (Nb), we determined a low-sugar affinity inward-facing Na-bound cryoEM structure.
View Article and Find Full Text PDFWe report an atypical granular cell tumour (GCT) presenting in a 6-year-old boy. GCTs are of neural origin and most cases arise in patients between the ages of 40 and 60. There are few reported cases in children, in whom malignant presentations are exceptionally rare.
View Article and Find Full Text PDFvariants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood.
View Article and Find Full Text PDFBackground: The Ehlers-Danlos syndromes (EDSs) comprise a group of connective tissue disorders that manifest with skin hyperextensibility, easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs. A correct assessment of cutaneous features along with the use of adjunct technologies can improve diagnostic accuracy.
Objectives: To systematically review the cutaneous features and adjunct investigations of EDS.
Introduction: The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with variable fragility to skin, soft tissue, and certain internal organs, which can cause significant complications, particularly arterial rupture, bowel perforation and joint difficulties. Currently, there are 14 proposed subtypes of EDS, with all except one subtype (hypermobile EDS) having an identified genetic etiology. An understanding of the extracutaneous features and complications within each subtype is key to maximizing clinical care and reducing the risk of further complications.
View Article and Find Full Text PDFThe Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is generally diagnosed through the cluster of clinical features, though the addition of genetic analysis is the gold standard for diagnosis of most subtypes. All subtypes display skin manifestations, which are essential to the accurate clinical diagnosis of the condition.
View Article and Find Full Text PDFIndigenous Australians used fire in spinifex deserts for millennia. These practices mostly ceased following European colonisation, but many contemporary Indigenous groups seek to restore 'right-way fire' practices, to meet inter-related social, economic, cultural and biodiversity objectives. However, measuring and reporting on the fire pattern outcomes of management is challenging, because the spatio-temporal patterns of right-way fire are not clearly defined, and because spatio-temporal variability in rainfall makes fire occurrence highly variable in these desert environments.
View Article and Find Full Text PDFPhakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood.
View Article and Find Full Text PDFIntroduction: Mortality is an important long-term indicator of the public health impact of chronic kidney disease (CKD). We investigated the role of individual comorbidities and multimorbidity on age-specific mortality risk among US veterans with new-onset CKD.
Methods: The cohort included 892,005 veterans aged ≥18 years with incident CKD stage 3 between January 2004 and April 2018 in the US Veterans Health Administration (VHA) system and followed until death, December 2018, or up to 10 years.
Background: Melanoma is common with increasing incidence. Guidelines recommend monthly total skin self-examinations (TSSEs) by survivors to detect recurrent and new primary melanomas. TSSE is underperformed despite evidence of benefit.
View Article and Find Full Text PDFMMWR Morb Mortal Wkly Rep
March 2022
End-stage kidney disease (ESKD) (kidney failure requiring dialysis or transplantation) is a costly and disabling condition that often results in premature death (1). During 2019, Medicare fee-for-service expenditures for ESKD were $37.3 billion, accounting for approximately 7% of Medicare paid claims costs (1).
View Article and Find Full Text PDFBackground: Melanoma incidence has quadrupled since 1970 and melanoma is now the second most common cancer in individuals under 50. Targeted immunotherapies for melanoma now potentially enable long-term remission even in advanced melanoma, but these melanoma survivors require ongoing surveillance, with implications for NHS resources and significant social and psychological consequences for patients. Total skin self-examination (TSSE) can detect recurrence earlier and improve clinical outcomes but is underperformed in the UK.
View Article and Find Full Text PDFN Engl J Med
November 2021
Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.
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