First RNAi Therapy Approved by FDA

Alnylam's patisiran interferes with the production of a mutated protein present in people with hereditary transthyretin amyloidosis.
Source: The Scientist - Category: Science Tags: News & Opinion Source Type: news

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Abstract: AL-amyloidoma is considered to be a variant of primary cutaneous marginal zone lymphoma (pcMZL). A 51-year-old white man presented a 2 × 2-cm erythematous to brownish waxy plaque on the back of the scalp. The plaque was first noticed 16 years ago. It was asymptomatic, and the patient was otherwise healthy. The lesion was excised. Histological examination revealed dermal deposits of amyloid and a subtle perivascular infiltrate, predominately consisting of plasma cells. Infiltrating cells expressed CD79a, bcl2, and IgG and were negative for bcl6, CD56, and IgM. A monoclonal light-chain expression of lambda ...
Source: The American Journal of Dermatopathology - Category: Pathology Tags: Extraordinary Case Report Source Type: research
Source: Amyloid: The Journal of Protein Folding Disorders - Category: Biochemistry Authors: Source Type: research
Source: Cardiology - Category: Cardiology Source Type: research
Publication date: Available online 20 June 2019Source: American Heart JournalAuthor(s): Peter Czobor, Yun-Yi Hung, David Baer, Dana McGlothlin, Dana Weisshaar, Jonathan ZaroffAbstractBackgroundLight Chain (AL) and transthyretin (ATTR) amyloidosis are the most common forms of amyloid cardiomyopathy. Population based studies describing the epidemiology and clinical features of amyloid cardiomyopathy are often based in tertiary medical centers and thus may be limited by referral bias.Methods and Results.We performed a cohort study of 198 patients diagnosed and treated in the Kaiser Permanente Northern California health care s...
Source: American Heart Journal - Category: Cardiology Source Type: research
In this study, we evaluated the effect of chronic oral quercetin administration (100 mg/kg) on neurodegeneration markers and cognitive and emotional deficits in a triple transgenic Alzheimer’s disease (3xTg-AD) mouse model using histological and behavioral analyses. Our results suggest that long-term (12 months) oral preventive treatment with quercetin has significant effects on β-amyloidosis reduction and tends to decrease tauopathy in the hippocampus and amygdala. These decreases positively affected the cognitive functional recovery (without modifying the emotional skills) of 3xTg-AD mice. These findin...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
The aim of this study was to test the hypothesis that intrinsic cardiac elastography can detect diastolic tissue abnormalities produced by cardiac amyloid infiltration and that measurements may have incremental value beyond traditional echocardiographic measures. The specific aims were (1) to evaluate the relationship between left ventricular myocardial stiffness (by elastography) and measures of diastolic chamber stiffness and systolic strain in patients with amyloidosis and (2) to compare their prognostic potential.
Source: Journal of the American Society of Echocardiography - Category: Cardiology Authors: Source Type: research
The FDA recentlyapproved 2 drugs for adults with cardiomyopathy caused by transthyretin-mediated amyloidosis (ATTR), a rare and life-threatening disease. The oral medications, tafamidis meglumine and tafamidis, are the first to receive agency approval for this indication.
Source: JAMA - Category: General Medicine Source Type: research
Amyloidosis cutis dyschromica (ACD) is a clinicopathologic form of primary localized cutaneous amyloidosis (PLCA) which is considered to be autosomal recessive and characterized by prepubertal onset of reticular hyperpigmentation with hypopigmented spots, along with amyloid deposition in the papillary dermis. Recently, bi-allelic mutations in GPNMB, encoding glycoprotein (transmembrane) non-metastatic melanoma protein b have been described in ACD (Yang et al., 2018). In contrast, we describe three pedigrees with ACD in whom we identified semi-dominant GPNMB mutations thereby expanding the inheritance pattern of this disorder.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Letters to the Editor Source Type: research
Source: Journal of Nuclear Cardiology - Category: Nuclear Medicine Source Type: research
AbstractCarpal tunnel syndrome (CTS) is a common finding among patients with cardiac amyloidosis. We sought to determine the prevalence of cardiac amyloidosis in patients who had undergone CTS surgery. From 2005 to 2014, 308 patients ≥ 60 years underwent CTS surgery. Of these, 233 (76%) agreed to participate in the study and 101 (73 ± 8 years; 68% females) showed left ventricular hypertrophy (LVH) ≥ 12 mm and underwent additional studies to diagnose AL and ATTR amyloidosis. Based on complementary studies, three p atients were diagnosed with cardiac amyloidosis (two wi...
Source: Journal of Cardiovascular Translational Research - Category: Cardiology Source Type: research
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