Kooperativer Bibliotheksverbund

Berlin Brandenburg

and
and

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Male
Type of Medium
Language
Year
  • 1
    Language: English
    In: Oncology (Williston Park, N.Y.), February 2012, Vol.26(2), pp.161-2, 164
    Keywords: Amyloidosis -- Drug Therapy ; Immunoglobulin Light Chains -- Metabolism
    ISSN: 0890-9091
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Language: English
    In: Journal of zoo and wildlife medicine : official publication of the American Association of Zoo Veterinarians, March 2011, Vol.42(1), pp.149-52
    Description: Amyloidosis has been described in a wide range of domestic and wild species and man. A 10-yr-old male Eastern (Mountain) Bongo (Tragelaphus eurycerus isaaci) was submitted for postmortem examination after a period of 24-hr malaise. Gross examination found evidence of biventricular cardiac hypertrophy, congestive heart failure, and focal pulmonary abscessation. Histologic changes in the heart were consistent with hypertrophic change. Amyloid deposits were found within the liver, kidney medulla, heart, adrenal cortex, and pituitary gland and were confirmed as reactive systemic amyloid (AA) by immunohistochemistry. The pulmonary abscessation was thought to be the stimulus for excessive serum amyloid associated protein production leading to the reactive systemic amyloidosis. Colloidal goiter was also identified as an incidental finding.
    Keywords: Amyloidosis -- Veterinary
    ISSN: 1042-7260
    E-ISSN: 19372825
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    In: The New England Journal of Medicine, 2012, Vol.366(24), pp.2276-2283
    Description: We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β 2 -microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type β 2 -microglobulin, the affected members of this kindred had normal renal function and normal circulating β 2 -microglobulin values. The Asp76Asn β 2 -microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. Previous studies of β 2 -microglobulin aggregation have not shown such amyloidogenicity for single-residue substitutions. Comprehensive biophysical characterization of the β 2 -microglobulin variant, including its 1.40-Å, three-dimensional structure, should allow further elucidation of fibrillogenesis and protein misfolding. A kindred with familial amyloidosis was found to have bowel and autonomic dysfunction and the sicca syndrome from an aspartate-to-asparagine alteration at amino acid 76 of β2-microglobulin. Unexpectedly, this alteration promoted fibrillogenesis and tissue deposition. Summary We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β2-microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type β2-microglobulin, the affected members of this kindred had normal renal function and normal circulating β2-microglobulin values. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. Previous studies of β2-microglobulin aggregation have not shown such amyloidogenicity for single-residue substitutions. Comprehensive biophysical characterization of the β . . .
    Keywords: Amyloidosis, Familial -- Genetics ; Beta 2-Microglobulin -- Genetics;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    In: Circulation, 2015, Vol.132(16), pp.1570-1579
    Description: BACKGROUND—: The prognosis and treatment of the 2 main types of cardiac amyloidosis, immunoglobulin light chain (AL) and transthyretin (ATTR) amyloidosis, are substantially influenced by cardiac involvement. Cardiovascular magnetic resonance with late gadolinium enhancement (LGE) is a reference standard for the diagnosis of cardiac amyloidosis, but its potential for stratifying risk is unknown. METHODS AND RESULTS—: Two hundred fifty prospectively recruited subjects, 122 patients with ATTR amyloid, 9 asymptomatic mutation carriers, and 119 patients with AL amyloidosis, underwent LGE cardiovascular magnetic resonance. Subjects were followed up for a mean of 24±13 months. LGE was performed with phase-sensitive inversion recovery (PSIR) and without (magnitude only). These were compared with extracellular volume measured with T1 mapping. PSIR was superior to magnitude-only inversion recovery LGE because PSIR always nulled the tissue (blood or myocardium) with the longest T1 (least gadolinium). LGE was classified into 3 patterns: none, subendocardial, and transmural, which were associated with increasing amyloid burden as defined by extracellular volume (P〈0.0001), with transitions from none to subendocardial LGE at an extracellular volume of 0.40 to 0.43 (AL) and 0.39 to 0.40 (ATTR) and to transmural at 0.48 to 0.55 (AL) and 0.47 to 0.59 (ATTR). Sixty-seven patients (27%) died. Transmural LGE predicted death (hazard ratio, 5.4; 95% confidence interval, 2.1–13.7; P〈0.0001) and remained independent after adjustment for N-terminal pro-brain natriuretic peptide, ejection fraction, stroke volume index, E/E′, and left ventricular mass index (hazard ratio, 4.1; 95% confidence interval, 1.3–13.1; P〈0.05). CONCLUSIONS—: There is a continuum of cardiac involvement in systemic AL and ATTR amyloidosis. Transmural LGE is determined reliably by PSIR and represents advanced cardiac amyloidosis. The PSIR technique provides incremental information on outcome even after adjustment for known prognostic factors.
    Keywords: Medicine ; Anatomy & Physiology;
    ISSN: 0009-7322
    E-ISSN: 15244539
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    Language: English
    In: Journal of the American College of Cardiology, 30 January 2018, Vol.71(4), pp.463-464
    Description: Wild-type transthyretin amyloid (wtATTR) affects the heart, causing a restrictive cardiomyopathy-deposits can be found in up to 25% of individuals 〉85 years of age at autopsy (1,2). [...]recently, diagnosis required endomyocardial biopsy. [...]the amyloid burden was skewed: rather than a pyramidal distribution...
    Keywords: Medicine
    ISSN: 0735-1097
    E-ISSN: 1558-3597
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    Language: English
    In: Heart, 1 October 2012, Vol.98(19), p.1436
    Description: To measure and assess the significance of myocardial extracellular volume (ECV), determined non-invasively by equilibrium contrast cardiovascular magnetic resonance, as a clinical biomarker in health and a number of cardiac diseases of varying pathophysiology.
    Keywords: Cmr ; Gadolinium ; Extracellular Volume ; Arrhythmias ; Defibrillation ; Cardiac Function ; Imaging and Diagnostics ; Mri ; Myocardial Disease ; Myocardial Fibrosis ; Myocardial Ischaemia and Infarction (Ihd) ; Sudden Adult Death Syndrome ; Cardiomyopathy Hypertrophic ; Arrhythmic Right Ventricular Dysplasia ; Congenital Heart Disease ; Thoracic Imaging ; Cardiac Anatomy ; Paediatric Cardiac Function ; Myocardial Infarction ; Myocytes ; Apoptosis ; Ischaemia Reperfusion ; Myocardial Protection ; Metabolic Medicine ; Diabetic Heart Disease ; Cardiomyopathy ; Cardiomyopathy Apical ; Cardiomyopathy Restrictive ; Hypertrophic Cardiomyopathy ; Cardiac Imaging ; Mri ; Editor'S Choice
    ISSN: 1355-6037
    ISSN: 13556037
    E-ISSN: 1468-201X
    E-ISSN: 1468201X
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    Language: English
    In: Radiology, September 2013, Vol.268(3), pp.858-64
    Description: To investigate equilibrium contrast material-enhanced magnetic resonance (MR) imaging measurement of extracellular volume (ECV) fraction within healthy abdominal tissues and to test the hypotheses that tissue ECV in systemic amyloid light-chain (AL) amyloidosis is greater than in healthy patients and show that this increase correlates with organ amyloid burden. A local ethics committee approved the study and all patients gave written informed consent. Forty healthy volunteers (18 men, 22 women; median age, 43 years; age range, 24-88 years) and 67 patients with AL amyloidosis (43 men, 24 women; median age, 65 years; age range, 38-81 years) underwent equilibrium MR imaging of the upper abdomen. ECV was measured in the liver, spleen, and paravertebral muscle. Patients with amyloidosis also underwent serum amyloid P (SAP) component scintigraphy so that specific organ involvement by amyloid could be scored. Variation in ECV between tissues was assessed by using a Friedman Test. Tissue ECV in healthy and amyloidosis groups were compared by using a Mann-Whitney U test. Spearman correlation was used to test for an association between the organ SAP score and ECV. ECV measured at equilibrium MR imaging varied significantly between organs in healthy volunteers (χ(2) = 31.0; P 〈 .001). ECV was highest in the spleen (0.34), followed by liver (0.29) and muscle (0.09). ECVs measured within the spleen (0.39; P〈 .001), liver (0.31; P = .005), and muscle (0.16; P〈 .001) were significantly higher in patients with amyloidosis than in healthy control subjects. ECV measured in the liver and spleen showed increasing organ amyloid burden assessed at SAP scintigraphy (liver, rs = 0.54; spleen, rs = 0.57). Equilibrium MR imaging can be used to define ECV within healthy tissues. ECV is increased in amyloidosis compared with healthy tissues, and this increase correlates with rising tissue amyloid burden.
    Keywords: Meglumine ; Organometallic Compounds ; Amyloidosis -- Pathology ; Extracellular Fluid -- Cytology ; Image Enhancement -- Methods ; Liver -- Pathology ; Magnetic Resonance Imaging -- Methods ; Spleen -- Pathology
    ISSN: 00338419
    E-ISSN: 1527-1315
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    In: The New England Journal of Medicine, 2005, Vol.352(22), pp.2356-2356
    Description: To the Editor: Familial amyloidotic polyneuropathy is a fatal autosomal dominant disease caused by amyloidogenic genetic variants of transthyretin. The liver is the predominant source of circulating transthyretin, and liver transplantation is the only treatment available for the disease. 1 Livers explanted from patients with familial amyloidotic polyneuropathy contain only microscopic amyloid deposits in hilar vessels and nerves and are otherwise uninvolved. Since 1995, more than 300 such livers removed at transplantation have been used sequentially as donor grafts for recipients with liver cancer or end-stage liver disease, in so-called domino liver transplantation. 2 We report here a case of systemic transthyretin . . .
    Keywords: Medicine;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    In: The New England Journal of Medicine, 2003, Vol.348(25), pp.2583-2584
    Description: To the Editor: Studies of hereditary inflammatory disorders have identified novel genes and pathways that may be involved in inflammation and apoptosis generally. Mutations in one such gene, variously named NALP3, CIAS1, and PYPAF1, were recently identified as the cause of the Muckle–Wells syndrome and the familial cold autoinflammatory syndrome 1 and have lately also been associated with neonatal-onset multisystem inflammatory disease. 2 Interleukin-1 is a key proinflammatory cytokine that contributes to increased synthesis of serum amyloid A protein by hepatocytes during the acute-phase response. The availability of a recombinant interleukin-1–receptor antagonist for clinical use enabled us to undertake a trial of . . .
    Keywords: Medicine;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 10
    In: The New England Journal of Medicine, 2013, Vol.369(9), pp.819-829
    Description: Background Transthyretin amyloidosis is caused by the deposition of hepatocyte-derived transthyretin amyloid in peripheral nerves and the heart. A therapeutic approach mediated by RNA interference (RNAi) could reduce the production of transthyretin. Methods We identified a potent antitransthyretin small interfering RNA, which was encapsulated in two distinct first- and second-generation formulations of lipid nanoparticles, generating ALN-TTR01 and ALN-TTR02, respectively. Each formulation was studied in a single-dose, placebo-controlled phase 1 trial to assess safety and effect on transthyretin levels. We first evaluated ALN-TTR01 (at doses of 0.01 to 1.0 mg per kilogram of body weight) in 32 patients with transthyretin amyloidosis and then evaluated ALN-TTR02 (at doses of 0.01 to 0.5 mg per kilogram) in 17 healthy volunteers. Results Rapid, dose-dependent, and durable lowering of transthyretin levels was observed in the two trials. At a dose of 1.0 mg per kilogram, ALN-TTR01 suppressed transthyretin, with a mean reduction at day 7 of 38%, as compared with placebo (P=0.01); levels of mutant and nonmutant forms of transthyretin were lowered to a similar extent. For ALN-TTR02, the mean reductions in transthyretin levels at doses of 0.15 to 0.3 mg per kilogram ranged from 82.3 to 86.8%, with reductions of 56.6 to 67.1% at 28 days (P〈0.001 for all comparisons). These reductions were shown to be RNAi-mediated. Mild-to-moderate infusion-related reactions occurred in 20.8% and 7.7% of participants receiving ALN-TTR01 and ALN-TTR02, respectively. Conclusions ALN-TTR01 and ALN-TTR02 suppressed the production of both mutant and nonmutant forms of transthyretin, establishing proof of concept for RNAi therapy targeting messenger RNA transcribed from a disease-causing gene. (Funded by Alnylam Pharmaceuticals; ClinicalTrials.gov numbers, NCT01148953 and NCT01559077 .) Transthyretin amyloidosis is largely caused by synthesis of mutant transthyretin in the liver and deposition of transthyretin in other organs. A therapeutic approach mediated by RNA interference resulted in reduced transthyretin levels in affected patients and in controls. Transthyretin amyloidosis is a life-threatening disorder caused by the deposition of hepatocyte-derived transthyretin amyloid in various tissues and organs.1,2 Circulating transthyretin is derived from the liver3 and can form amyloid deposits in peripheral nerves and in the gastrointestinal tract, heart, and kidneys. Transthyretin is also synthesized by the retina and choroid plexus,4,5 which can lead to vitreal and leptomeningeal deposits. More than 100 genetic variants of the gene encoding transthyretin (TTR) are associated with autosomal dominant forms of the disease, known as familial amyloidotic polyneuropathy6–8 and familial amyloidotic cardiomyopathy.9–11 The most common mutation associated . . .
    Keywords: Medicine;
    ISSN: 0028-4793
    E-ISSN: 1533-4406
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. Further information can be found on the KOBV privacy pages