keyword
MENU ▼
Read by QxMD icon Read
search

Amyloidosis AND (Hattr OR Hereditary OR Familial)

keyword
https://www.readbyqxmd.com/read/30314800/the-antimicrobial-protection-hypothesis-of-alzheimer-s-disease
#1
Robert D Moir, Richard Lathe, Rudolph E Tanzi
OBJECTIVE: We explore here a novel model for amyloidogenesis in Alzheimer's disease (AD). This new perspective on AD amyloidosis seeks to provide a rational framework for incorporating recent and seemingly independent findings on the antimicrobial role of β-amyloid and emerging experimental, genetic, and epidemiological data, suggesting innate immune-mediated inflammation propagates AD neurodegeneration. BACKGROUND: AD pathology is characterized by cerebral deposition of amyloid-β protein (Aβ) as β-amyloid...
October 9, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/30308545/primary-localized-cutaneous-amyloidosis-affecting-female-individuals-of-a-pakistani-pedigree
#2
Bevin Bhoyrul, Alicia Ng, Philip M Laws, Bipin Mathew, Sangeetha Shanmugam
Primary localized cutaneous amyloidosis is a group of rare conditions where amyloid deposition is limited to the skin without systemic manifestations. Most cases are sporadic; however, mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes can cause a familial form of the condition in up to 10% of cases. Here, we describe a family in which 8 female individuals are affected by either macular amyloidosis or amyloidosis cutis dyschromica. To the best of our knowledge, a sex-specific expression or the coexistence of 2 different phenotypes of primary localized cutaneous amyloidosis in 1 pedigree has not yet been reported...
October 9, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/30300539/the-ret-c611y-mutation-causes-men-2a-and-associated-cutaneous
#3
Xiao-Ping Qi, Jian-Zhong Peng, Xiao-Wei Yang, Zhi-Li Zao, Xiu-Hua Yu, Xu-Dong Fang, Da-Hong Zhang, Jian-Qiang Zhao
Background: Cutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back. Patient Findings: This study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harboring germline C611Y (c...
September 1, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/30295933/hereditary-transthyretin-related-amyloidosis
#4
REVIEW
Josef Finsterer, Stephan Iglseder, Julia Wanschitz, Raffi Topakian, Wolfgang N Löscher, Wolfgang Grisold
Hereditary transthyretin(TTR)-related amyloidosis (ATTRm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early- and late-onset, rare, progressive disorder, predominantly manifesting as length-dependent, small-fiber dominant, axonal polyneuropathy and frequently associated with cardiac disorders and other multisystem diseases. ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation. TTR mutations lead to destabilisation and dissociation of TTR tetramers into variant TTR monomers, and formation of amyloid fibrils, which are consecutively deposited extra-cellularly in various tissues, such as nerves, heart, brain, eyes, intestines, kidneys...
October 8, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/30252892/non-parametric-estimation-of-survival-in-age-dependent-genetic-disease-and-application-to-the-transthyretin-related-hereditary-amyloidosis
#5
Flora Alarcon, Violaine Planté-Bordeneuve, Malin Olsson, Grégory Nuel
In genetic diseases with variable age of onset, survival function estimation for the mutation carriers as well as estimation of the modifying factors effects are essential to provide individual risk assessment, both for mutation carriers management and prevention strategies. In practice, this survival function is classically estimated from pedigrees data where most genotypes are unobserved. In this article, we present a unifying Expectation-Maximization (EM) framework combining probabilistic computations in Bayesian networks with standard statistical survival procedures in order to provide mutation carrier survival estimates...
2018: PloS One
https://www.readbyqxmd.com/read/30251172/patisiran-first-global-approval
#6
Sheridan M Hoy
Patisiran (ONPATTRO™) is a double-stranded small interfering RNA encapsulated in a lipid nanoparticle for delivery to hepatocytes. By specifically binding to a genetically conserved sequence in the 3' untranslated region of mutant and wild-type transthyretin (TTR) messenger RNA, patisiran causes its degradation (via RNA interference) and subsequently a reduction in serum TTR protein levels and tissue TTR protein deposits. Patisiran has been developed by Alnylam Pharmaceuticals; it was recently approved in the USA for the treatment of the polyneuropathy of hereditary TTR-mediated amyloidosis (hATTR) in adults and subsequently approved in the EU for the treatment of hATTR in adults with stage 1 or 2 polyneuropathy...
September 24, 2018: Drugs
https://www.readbyqxmd.com/read/30246259/screening-for-fabry-disease-and-hereditary-attr-amyloidosis-in-idiopathic-small-fiber-and-mixed-neuropathy
#7
Kristin Samuelsson, Ana Radovic, Rayomand Press, Mari Auranen, Emil Ylikallio, Henna Tyynismaa, Mikko Kärppä, Matilda Veteläinen, Niina Peltola, Svein Ivar Mellgren, Åse Mygland, Chantal Tallaksen, Henning Andersen, Astrid Juhl Terkelsen, Freja Fontain, Aki Hietaharju
INTRODUCTION: We aimed to explore the value of genetic screening for Fabry disease (FD) and hereditary ATTR amyloidosis in patients with idiopathic small fiber neuropathy (SFN) or mixed neuropathy in a clinical setting. METHODS: This was a Nordic multicenter study with 9 participating centers. Patients with idiopathic SFN or mixed neuropathy were included. Genetic sequencing of the TTR and GLA genes was performed. RESULTS: 172 patients were enrolled...
September 24, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/30244842/-lysozyme-amyloidosis
#8
M Scafi, S Valleix, A Benyamine, E Jean, J-R Harlé, P Rossi, L Daniel, N Schleinitz, B Granel
Lysozyme amyloidosis is a non-neuropathic hereditary amyloidosis identified in 1993. About fifty cases of this rare, probably under-diagnosed disease are reported. Lysozyme amyloidosis has a very broad spectrum of clinical manifestations. Sicca syndrome is often the first symptom, preceding the diagnosis by several years. Every part of the digestive tract can be involved with different grades of severity. The hallmark of this amyloidosis is the usually life-threatening spontaneous hepatic rupture. Renal involvement is frequent and progresses towards end-stage renal failure and dialysis...
September 20, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/30243104/the-morphology-of-amyloid-fibrils-and-their-impact-on-tissue-damage-in-hereditary-transthyretin-amyloidosis-an-ultrastructural-study
#9
Haruki Koike, Ryoji Nishi, Shohei Ikeda, Yuichi Kawagashira, Masahiro Iijima, Takeo Sakurai, Takayoshi Shimohata, Masahisa Katsuno, Gen Sobue
INTRODUCTION: We evaluated the morphology of amyloid fibrils in the peripheral nervous system using biopsy or autopsy specimens from hereditary transthyretin amyloidosis patients. The impact of amyloid fibril formation on neighboring tissues was also investigated. METHODS: Sural nerve biopsy specimens from 34 patients were examined using electron microscopy. Twenty-eight patients had Val30Met mutations, and the remaining 6 patients had non-Val30Met mutations (i...
November 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30233755/intracranial-and-systemic-manifestations-of-familial-leptomeningeal-amyloidosis-as-seen-on-ct-and-mri
#10
Saralyn Beckius, Kamran Shah
Leptomeningeal amyloidosis is a subset of familial transthyretin amyloidosis, a family of diseases occurring in conjunction with multiple known mutations of the transthyretin gene. Though this is primarily a disease of the central nervous system, amyloid deposition is multisystemic. We describe a case of a 61-year-old man with known central nervous system amyloidosis presenting to the emergency room with stroke-like symptoms, including left hemineglect, right gaze paresis, and left hemiplegia, atop baseline dementia...
December 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/30219500/kind-and-distribution-of-cutaneous-sensation-loss-in-hereditary-transthyretin-amyloidosis-with-polyneuropathy
#11
Marcus V Pinto, P James B Dyck, Linde E Gove, Bryan M McCauley, Elizabeth J Ackermann, Steven G Hughes, Marcia Waddington-Cruz, Peter J Dyck
OBJECTIVE: Report on the kind and distribution of somatotopic sensation loss and its utility in assessing severity of sensation loss in study of a large international cohort of patients with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN). METHODS: Smart Somatotopic Quantitative Sensation Testing (S ST QSTing) using Computer Assisted Sensation Evaluator IVc (CASE IVc) was used to assess the somatotopic distribution of touch pressure (TP) and heat pain (HP) sensation loss twice of untreated hATTR-PN patients in the Ionis NEURO-TTR trial (www...
November 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30215006/evidence-of-neurophysiological-improvement-of-early-manifestations-of-small-fiber-dysfunction-after-liver-transplantation-in-a-patient-with-familial-amyloid-neuropathy
#12
Mar Guasp, Alejandro A Köhler, Michela Campolo, Jordi Casanova-Molla, Josep Valls-Sole
Introduction: Small fiber polyneuropathy (SFP) is a common heralding clinical manifestation of damage to the nervous system in patients with familial amyloidosis. The diagnosis of SFP is a significant factor in the decision to treat a previously asymptomatic gene carrier, as treatment would prevent irreversible nerve damage. This requires detection of the earliest but unequivocal signs of peripheral nerve involvement. Case report: We present the case of a young female who was diagnosed of SFP, supported by data from quantitative sensory testing...
2018: Clinical Neurophysiology Practice
https://www.readbyqxmd.com/read/30198232/characteristics-of-south-korean-patients-with-hereditary-transthyretin-amyloidosis
#13
Kyomin Choi, Jin Myoung Seok, Byoung Joon Kim, Young Cheol Choi, Ha Young Shin, Il Nam Sunwoo, Dae Seong Kim, Jung Joon Sung, Ga Yeon Lee, Eun Seok Jeon, Nam Hee Kim, Ju Hong Min, Jeeyoung Oh
BACKGROUND AND PURPOSE: This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene ( TTR ), and analyzed their characteristics and geographical distribution in South Korea. METHODS: The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014...
October 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/30184436/molecular-insights-into-human-hereditary-apolipoprotein-a-i-amyloidosis-caused-by-the-glu34lys-mutation
#14
Isabel Morgado, Afra Panahi, Andrew G Burwash, Madhurima Das, John E Straub, Olga Gursky
Hereditary apolipoprotein A-I (apoA-I) amyloidosis is a life-threatening incurable genetic disorder whose molecular underpinnings are unclear. In this disease, variant apoA-I, the major structural and functional protein of high-density lipoprotein, is released in a free form, undergoes an α-helix to intermolecular cross-β-sheet conversion along with a proteolytic cleavage, and is deposited as amyloid fibrils in various organs, which can cause organ damage and death. Glu34Lys is the only known charge inversion mutation in apoA-I that causes human amyloidosis...
October 2, 2018: Biochemistry
https://www.readbyqxmd.com/read/30169969/hereditary-transthyretin-amyloidosis-baseline-characteristics-of-patients-in-the-neuro-ttr-trial
#15
Marcia Waddington-Cruz, Elizabeth J Ackermann, Michael Polydefkis, Stephen B Heitner, Peter J Dyck, Fabio A Barroso, Annabel K Wang, John L Berk, P James B Dyck, Brett P Monia, Steven G Hughes, Li Tai, T Jesse Kwoh, Shiangtung W Jung, Teresa Coelho, Merrill D Benson, Morie A Gertz
BACKGROUND: Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive and fatal disease with a range of clinical manifestations. OBJECTIVE: This study comprehensively evaluates disease characteristics in a large, diverse cohort of patients with ATTRm amyloidosis. METHODS: Adult patients (N = 172) with Stage 1 or Stage 2 ATTRm amyloidosis who had polyneuropathy were screened and enrolled across 24 investigative sites and 10 countries in the NEURO-TTR trial ( www...
August 31, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/30167710/-schnitzler-syndrome
#16
F F Gellrich, C Günther
Schnitzler syndrome is a very rare acquired systemic disease with many similarities to hereditary autoinflammatory syndromes. The main characteristics are generalized exanthema and a monoclonal gammopathy with IgM. Other clinical features include fever, muscle, bone and/or joint pain, and lymphadenopathy. About 15-20% of patients with Schnitzler syndrome develop lymphoproliferative diseases and, in rare cases, amyloid A (AA) amyloidosis can occur if the disease is not treated. Activation of the innate immune system, especially interleukin(IL)-1β, is central in the pathogenesis of the disease...
September 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/30160131/mitochondrial-dna-copy-number-alterations-in-familial-mediterranean-fever-patients
#17
H B Erdem, A C Ceylan, I Sahin, Z Sever-Erdem, S Citli, A Tatar
OBJECTIVES AND BACKGROUND: Familial Mediterranean Fever (FMF) is characterized by recurrent fever episodes as a result of inflammation of serous membranes. Changes in the number of different mtDNA copy number variations, detected in FMF patients, who developed amyloidosis, might be an important parameter in the understanding of the pathophysiology of the disease. METHODS: Changes in the mtDNA copy number between 50 patients with FMF, who had M694V homozygote mutation and amyloidosis, and 50 healthy controls, who had not any MEFV mutation or FMF clinical finding, were examined...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/30158559/fda-approves-patisiran-to-treat-hereditary-transthyretin-amyloidosis
#18
Heather Wood
No abstract text is available yet for this article.
August 29, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/30142390/development-and-validation-of-a-ttr-specific-copy-number-screening-tool-and-application-to-potentially-relevant-patient-cohorts
#19
Amir Jahic, Andrea Bock, Franz Duca, Diana Bonderman, Julia Mascherbauer, Reinhard Windhager, Michaela Auer-Grumbach, Christian Beetz
TTR amyloidosis (ATTR) is a fatal condition caused by extracellular deposits of misfolded transthyretin. Patients often present with cardiac disease, but manifestations may also involve other organs including the peripheral nervous system. ATTR is considered familial when heterozygous mutations in the TTR gene are present (ATTRmutant or ATTRm), or acquired when no TTR aberrations are detected (ATTRwildtype or ATTRwt). We hypothesized that TTR copy number variants (CNVs), which would escape the standard diagnostic approaches, contribute to ATTR-related phenotypes, and developed a multiplex ligation-dependent probe amplification-based (MLPA-based), TTR-specific copy number screening tool...
October 2018: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/30131519/a-ftir-microspectroscopy-study-of-the-structural-and-biochemical-perturbations-induced-by-natively-folded-and-aggregated-transthyretin-in-hl-1-cardiomyocytes
#20
Diletta Ami, Paolo Mereghetti, Manuela Leri, Sofia Giorgetti, Antonino Natalello, Silvia Maria Doglia, Massimo Stefani, Monica Bucciantini
Protein misfolding and aggregation are associated with a number of human degenerative diseases. In spite of the enormous research efforts to develop effective strategies aimed at interfering with the pathogenic cascades induced by misfolded/aggregated peptides/proteins, the necessary detailed understanding of the molecular bases of amyloid formation and toxicity is still lacking. To this aim, approaches able to provide a global insight in amyloid-mediated physiological alterations are of importance. In this study, we exploited Fourier transform infrared microspectroscopy, supported by multivariate analysis, to investigate in situ the spectral changes occurring in cultured intact HL-1 cardiomyocytes exposed to wild type (WT) or mutant (L55P) transthyretin (TTR) in native, or amyloid conformation...
August 21, 2018: Scientific Reports
keyword
keyword
169764
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"