Results 101 to 110 of about 16,704,778 (257)
A Bootstrap Machine Learning Approach to Identify Rare Disease Patients from Electronic Health Records [PDF]
arXiv, 2016 Rare diseases are very difficult to identify among large number of other possible diagnoses. Better availability of patient data and improvement in machine learning algorithms empower us to tackle this problem computationally. In this paper, we target one such rare disease - cardiac amyloidosis.
arxiv
International Journal of Clinical & Medical Imaging, 2015 Case: 45 year old lady presented with anorexia, weakness for last one year and development of deformity in her spine for last one and half years following fracture. On clinical examination she had mild bilateral pedal edema, kyphoscoliosis, tenderness over rib cage on left side.
Vijayan Ganesan +3 more
openaire +2 more sources
Blood, 2017 In light of major advances in immunoglobulin light chain (AL) amyloidosis, we evaluated the trends in presentation, management, and outcome among 1551 newly diagnosed AL amyloidosis patients seen in our institution from 2000 to 2014. As compared with the
Eli Muchtar +23 more
semanticscholar +1 more source
Amyloid: Journal of Protein Folding Disorders, 2020 Pomalidomide demonstrated activity in the treatment of AL amyloidosis in three phase II clinical trials. We evaluated the safety and efficacy of 28-day cycles of pomalidomide and dexamethasone in 153 previously treated patients with systemic AL ...
P. Milani +12 more
semanticscholar +1 more source
The transition from amorphous to crystalline in Al/Zr multilayers [PDF]
, 2012 The amorphous-to-crystalline transition in Al(1.0%wtSi)/Zr and Al(Pure)/Zr multilayers grown by direct-current magnetron sputtering system has been characterized over a range of Al layer thicknesses (1.0-5.0 nm) by using a series of complementary measurements including grazing incidence X-ray reflectometry, atomic force microscopy, X-ray diffraction ...
arxiv +1 more source
British Journal of Haematology, 2020 Immunoglobulin light‐chain amyloidosis (AL amyloidosis) is a rare disease in which a small plasma cell clone produces toxic misfolded proteins that deposit in organs and impair their function.
T. Popková, R. Hájek, T. Jelínek
semanticscholar +1 more source
Systemic AL Amyloidosis: Current Approaches to Diagnosis and Management
HemaSphere, 2020 AL amyloidosis is characterized by a low-level expansion of an indolent, small plasma cell clone that produces amyloidogenic light chains. Amyloid aggregates or preceding intermediaries cause direct cell damage through their proteotoxicity, and amyloid ...
D. Fotiou, M. Dimopoulos, E. Kastritis
semanticscholar +1 more source
Clinical and laboratory profile of renal amyloidosis: A single-center experience
Saudi Journal of Kidney Diseases and Transplantation, 2018 The kidney is the most common organ involved in systemic amyloidosis. We aimed to study etiology and clinicopathological profile of renal amyloidosis. This was a retrospective study of 40 consecutive adult patients with biopsy-proven renal amyloidosis ...
Divyesh P Engineer +3 more
doaj +1 more source
Journal of Comparative Effectiveness Research, 2022 Aim: Describe the clinical and economic burden of hospitalizations for amyloid light chain (AL) amyloidosis. Materials & methods: This retrospective analysis used nationally representative hospital discharge data (2017–2020) to report discharge status,
Tiffany P Quock +5 more
doaj +1 more source
Semi-Parametric Survival Estimation for pedigrees [PDF]
arXiv, 2016 Mendelian diseases are determined by a single mutation in a given gene. However, in the case of diseases with late onset, the age at onset is variable; it can even be the case that the onset is not observed in a lifetime. Estimating the survival function of the mutation carriers and the effect of modifying factors such as the sex, mutation, origin, etc,
arxiv