Search results for "AMYLOIDOSIS"
showing 10 items of 79 documents
Sonographic signs of amyloidosis.
2009
INTRODUCTION: Amyloidosis is a rare group of diseases with a variety of symptoms that occurs not only in multimorbid elderly but also in young patients. However, sonographic signs of amyloidosis have not been described so far. PATIENTS AND METHODS: 30 patients with different forms of amyloidosis (19 patients with TTR-amyloidosis (familial amyloid Polyneuropathy [FAP]), 11 patients with other forms of systemic amyloidosis) were sonographically evaluated in a standardised fashion. In all patients amyloidosis was histologically verified. RESULTS: Typical signs of cardiac amyloidosis were myocardial thickness, pericardial effusion, pleural effusion and typical echorich subendocardial deposition…
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP
2010
Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. Design Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic examination was performed in 2 subjects. Setting Southern Lombardy, Italy. Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37). Main Outcome Measure Genotype-phenotype relationship. Results The affected individuals presented with recurrent headach…
Amyloidosis and Ocular Involvement: an Overview.
2019
Purpose: To describe the ophthalmic manifestations of amyloidosis and the corresponding therapeutic measures.Methods: The 178 patients included in the study had different types of amyloidosis, diagnosed at a single internal medicine institution (Bari, Italy). To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland).Results: Overall, ocular morbidity was detected in 41 of the 178 patients w…
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area
2016
Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. However, less is known about its efficacy in later disease stages and in non-Val30Met mutations. We performed a multi-center observational study on symptomatic ATTR patients prescribed to receive Tafamidis. We followed up patients according to a standardized protocol including general medical, cardiological and neurological assessments at baseline and every 6 months up to 3 years. Sixty-one (42 males) patients were recruited. Only 28 % of enrolled subjects h…
Evidence of impaired left ventricular systolic function by Doppler myocardial imaging in patients with systemic amyloidosis and no evidence of cardia…
2007
We examined the potential role of Doppler myocardial imaging for early detection of systolic dysfunction in patients with systemic amyloidosis (AL) but without evidence of cardiac involvement by standard echocardiography. We identified 42 patients without 2-dimensional echocardiographic or Doppler evidence of cardiac involvement. These patients had normal ventricular wall thickness and normal velocity of the medial mitral annulus. Myocardial images were obtained in these patients and in 32 age- and gender-matched healthy controls. Peak longitudinal systolic tissue velocity (sTVI), systolic strain rate (sSR), and systolic strain (sS) were determined for 16 left ventricular segments. Radial a…
Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy
2016
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to cardiac failure or wasting syndrome. Previous studies showed that modified body mass index was related to time before death, duration of gastrointestinal disturbances, malabsorption and functional capacity. We report two patients in whom nutritional status worsened despite diet modification, hypercaloric supplement and two relevant therapeutic approaches such as liver transplant and tafamidis meglumine, respectively. The first patient, a 52-year-old lady carrying Thr49Ala mutation, had a disease duration of twelve years and had lost weight up to 35 kg…
Detection of Left Ventricular Systolic Dysfunction in Cardiac Amyloidosis with Strain Rate Echocardiography .
2006
Background We examined the potential role of Doppler myocardial imaging including tissue velocity imaging, strain imaging, and strain rate imaging for detection of left ventricular systolic dysfunction in cardiac amyloidosis (CA) and determined the minimum dataset required to make the diagnosis. Methods and Results Doppler myocardial imaging was performed in 103 patients with amyloidosis (AL). Peak longitudinal systolic tissue velocity, systolic strain rate (sSR), and systolic strain (sS) were determined for 16 left ventricular segments. Radial and circumferential sSR and sS were also measured. Patients with increased left ventricular wall thickness were classified with advanced-CA, and the…
Comparison of right ventricular longitudinal strain imaging, tricuspid annular plane systolic excursion, and cardiac biomarkers for early diagnosis o…
2012
Aims To determine the role of assessing right ventricular (RV) function, using standard echocardiography and Doppler myocardial imaging (DMI), in the early diagnosis of cardiac amyloidosis and in the prediction of mortality. Methods and results Patients with primary systemic (AL) amyloidosis seen at our institution from 1 February 2004 through 31 October 2005 (N = 249) were categorized by left ventricular thickness and E′ velocity and compared with 38 age- and sex-matched controls. Standard echocardiographic and DMI examination were used to measure echocardiographic parameters of RV function: systolic tissue velocity, strain rate, and strain were determined for basal and middle RV free wall…
DesMol2, an Effective Tool for the Construction of Molecular Libraries and Its Application to QSAR Using Molecular Topology
2019
A web application, DesMol2, which offers two main functionalities, is presented: the construction of molecular libraries and the calculation of topological indices. These functionalities are explained through a practical example of research of active molecules to the formylpeptide receptor (FPR), a receptor associated with chronic inflammation in systemic amyloidosis and Alzheimer&rsquo