Surgical treatment of a rare case of bilateral ptosis due to localized ocular amyloidosis [PDF]
, 2016 We describe a rare case of a 31-year old woman with bilateral ptosis due to localized amyloidosis. She referred a nine-year history of ptosis and surgical treatment with frontalis suspension three years previously.
ABDOLRAHIMZADEH, SOLMAZ +4 more
core +1 more source
The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa [PDF]
, 2016 Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I ...
Alexander, Alice A +10 more
core +1 more source
Light chain systemic amyloidosis manifested as liver failure complicated with fatal spontaneous splenic rupture: A case report [PDF]
arXiv, 2021 For a patient with manifestations of nausea, abdominal distension, spontaneous splenic rupture, obvious liver enlargement, low red blood cells and platelets, yellow sclera, and spider angioma, Congo red staining of liver and spleen tissues indicated amyloidosis.
arxiv
Nanobody interaction unveils structure, dynamics and proteotoxicity of the Finnish-type amyloidogenic gelsolin variant [PDF]
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.
Volume 1865, Issue 3, 1 March 2019, Pages 648-660, 2019 AGel amyloidosis, formerly known as familial amyloidosis of the Finnish-type, is caused by pathological aggregation of proteolytic fragments of plasma gelsolin. So far, four mutations in the gelsolin gene have been reported as responsible for the disease.
arxiv +1 more source
Abnormal Myocardial Blood Flow Reserve Observed in Cardiac Amyloidosis [PDF]
, 2016 We performed real-time myocardial contrast echocardiography on a patient with cardiac amyloidosis and previous normal coronary angiography presenting with atypical chest pain to assess myocardial blood flow reserve (MBFR).
Greaves, K, Nam, MC, Nel, K, Senior, R
core +1 more source
Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein
Kidney International Reports, 2017 Fibrinogen A alpha chain amyloidosis is an autosomal dominant disease associated with mutations in the fibrinogen A alpha chain (FGA) gene, and it is the most common cause of hereditary renal amyloidosis in the UK.
Dorota Rowczenio +18 more
doaj +1 more source
Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome [PDF]
, 2013 Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types.
Banypersad, SM +15 more
core +1 more source
Human central nervous system (CNS) ApoE isoforms are increased by age, differentially altered by amyloidosis, and relative amounts reversed in the CNS compared with plasma [PDF]
, 2016 The risk of Alzheimer's disease (AD) is highly dependent on apolipoprotein-E (apoE) genotype. The reasons for apoE isoform-selective risk are uncertain; however, both the amounts and structure of human apoE isoforms have been hypothesized to lead to ...
Baker-Nigh, Alaina T +11 more
core +3 more sources
Uncovering the Mechanism of Aggregation of Human Transthyretin. [PDF]
, 2015 The tetrameric thyroxine transport protein transthyretin (TTR) forms amyloid fibrils upon dissociation and monomer unfolding. The aggregation of transthyretin has been reported as the cause of the life-threatening transthyretin amyloidosis.
Cascio, Duilio +9 more
core +2 more sources
Hepatology Communications, EarlyView., 2022 Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring +70 more
wiley +1 more source