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familial amyloid polyneuropathy

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https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#1
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29330472/amyloid-deposition-in-a-mouse-model-humanized-at-the-transthyretin-and-retinol-binding-protein-4-loci
#2
Xiangshun Li, Yanyi Lyu, Jingling Shen, Yanshuang Mu, Lixia Qiang, Li Liu, Kimi Araki, Bruno P Imbimbo, Ken-Ichi Yamamura, Shoude Jin, Zhenghua Li
Familial amyloidotic polyneuropathy is an autosomal dominant disorder caused by a point mutation in the transthyretin (TTR) gene. The process of TTR amyloidogenesis begins with rate-limiting dissociation of the TTR tetramer. Thus, the TTR stabilizers, such as Tafamidis and Diflunisal, are now in clinical trials. Mouse models will be useful to testing the efficacy of these drugs. Although several mouse models have been generated, they all express mouse Rbp4. Thus, human TTR associates with mouse RBP4, resulting in different kinetic and thermodynamic stability profiles of TTR tetramers...
January 12, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29310464/annals-express-unwanted-road-to-anemia-in-transthyretin-familial-amyloid-polyneuropathy-may-continue-irrespective-of-tafamidis-treatment
#3
Tokunori Ikeda, Teruaki Masuda, Mitsuharu Ueda, Taro Yamashita, Yohei Misumi, Satoru Shinriki, Yukio Ando
BACKGROUND: This retrospective longitudinal study was performed to determine whether tafamidis treatment leads to improvements in commonly used blood data for transthyretin familial amyloid polyneuropathy (TTR-FAP). METHODS: Commonly used blood data (complete blood count [including a hemogram], total protein, albumin, blood urea nitrogen, creatinine, aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, lactate dehydrogenase, γ-glutamyl transpeptidase, total bilirubin [T-Bil], creatine kinase, choline esterase, high density lipoprotein cholesterol, low density lipoprotein cholesterol, estimated glomerular filtration rate [eGFR], serum amyloid A protein, TTR, hemoglobin A1c, free triiodothyronine [FT3], and free thyroxine [FT4]) were investigated in 33 TTR-FAP patients...
January 1, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/29288430/co-precipitation-molecules-hemopexin-and-transferrin-may-be-key-molecules-for-fibrillogenesis-in-ttr-v30m-amyloidogenesis
#4
Mika Ohta, Aki Sugano, Naoya Hatano, Hirotaka Sato, Hirofumi Shimada, Hitoshi Niwa, Toshiyuki Sakaeda, Hajime Tei, Yoshiyuki Sakaki, Ken-Ichi Yamamura, Yutaka Takaoka
The disease model of familial amyloidotic polyneuropathy-7.2-hMet30 mice-manifests amyloid deposition that consists of a human amyloidogenic mutant transthyretin (TTR) (TTR V30M). Our previous study found amyloid deposits in 14 of 27 7.2-hMet30 mice at 21-24 months of age. In addition, non-fibrillar TTR deposits were found in amyloid-negative 7.2hMet30 mice. These results suggested that TTR amyloidogenesis required not only mutant TTR but also an additional factor (or factors) as an etiologic molecule. To determine the differences in serum proteome in amyloid-positive and amyloid-negative mice in the 7...
December 29, 2017: Transgenic Research
https://www.readbyqxmd.com/read/29283951/knee-arthrodesis-in-a-patient-with-charcot-neuroarthropathy-secondary-to-familial-amyloid-polyneuropathy-a-case-report
#5
Tiago Rebelo, João Morais, Francisco Agostinho, Ana Abrantes, Nuno Simões, Inês Simões
CASE: We report a rare case of severe Charcot neuroarthropathy of the knee secondary to familial amyloid polyneuropathy, which was treated surgically with a knee arthrodesis. This treatment allowed an early symptomatic and functional improvement and a short consolidation time without any major complications. CONCLUSION: Neuropathy is the earliest and most major burden in patients with familial amyloid polyneuropathy; it requires careful evaluation and adequate treatment aimed at preventing or slowing the progression of secondary damage, involving Charcot neuroarthropathy, that may occur...
October 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29280898/knee-arthrodesis-in-a-patient-with-charcot-neuroarthropathy-secondary-to-familial-amyloid-polyneuropathy-a-case-report
#6
Tiago Rebelo, João Morais, Francisco Agostinho, Ana Abrantes, Nuno Simões, Inês Simões
CASE: We report a rare case of severe Charcot neuroarthropathy of the knee secondary to familial amyloid polyneuropathy, which was treated surgically with a knee arthrodesis. This treatment allowed an early symptomatic and functional improvement and a short consolidation time without any major complications. CONCLUSION: Neuropathy is the earliest and most major burden in patients with familial amyloid polyneuropathy; it requires careful evaluation and adequate treatment aimed at preventing or slowing the progression of secondary damage, involving Charcot neuroarthropathy, that may occur...
December 27, 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29249054/transthyretin-familial-amyloid-polyneuropathy-an-update
#7
Violaine Plante-Bordeneuve
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited disorder first identified in Portugal and now recognized in all continents. Over the past decade, thanks to the availability of the genetic test, our knowledge on the range of clinical expressions of this disorder has expanded, including different patterns and progression rates of the neuropathy, as well as aspects of the cardiomyopathy, which can be prominent. In the mean time, new tools are being developed to detect earlier TTR amyloid deposition such as cardiac scintigraphy with technetium-labelled pyrophosphate tracers or small nerve fiber alterations from skin biopsies, or using neurophysiological approaches as well as magnetic resonance neurography (MRN)...
December 16, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29246775/coronary-ectasia-in-amyloid-cardiomyopathy-and-neuropathy-due-to-the-transthyretin-mutation-c-323a-g
#8
Josef Finsterer, Claudia Stöllberger, Helmut Rauschka, Edmund Gatterer
BACKGROUND: atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA). However, ectasia of coronary arteries and ablation for AF have not been reported in TTR-FA. METHODS AND RESULTS: A 65yo male developed progressive sensori-motor polyneuropathy since age 59y. At age 60y bifascicular block and myocardial thickening were recognised. At age 62y heart failure developed and work-up with cardiac MRI suggested amyloidosis but biopsy was non-informative...
December 12, 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/29211930/estimating-the-global-prevalence-of-transthyretin-familial-amyloid-polyneuropathy
#9
Hartmut H Schmidt, Márcia Waddington-Cruz, Marc F Botteman, John A Carter, Avijeet S Chopra, Markay Hopps, Michelle Stewart, Shari Fallet, Leslie Amass
Objective To estimate the global prevalence of transthyretin familial amyloid polyneuropathy (ATTR-FAP). METHODS: Prevalence estimates and information supporting prevalence calculations was extracted from records yielded by reference-databases searches (2005-2016), conference proceedings, and non-peer reviewed sources. Prevalence was calculated as prevalence rate multiplied by general-population size, then extrapolated to countries without prevalence estimates but with reported cases...
December 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29209135/first-case-of-cross-auxiliary-double-domino-donor-liver-transplantation
#10
Zhi-Jun Zhu, Lin Wei, Wei Qu, Li-Ying Sun, Ying Liu, Zhi-Gui Zeng, Liang Zhang, En-Hui He, Hai-Ming Zhang, Ji-Dong Jia, Zhong-Tao Zhang
We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy (FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino graft was implanted during each stage. During the first stage, an auxiliary domino liver transplantation was conducted using a domino graft from a 4-year-old female child with Wilson's disease. After removing the right lobe of the FAP patient's liver, the graft was rotated 90 degrees counterclockwise and placed along the right side of the inferior vena cava (IVC)...
November 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29115008/tafamidis-delays-neurologic-progression-comparably-across-val30met-and-non-val30met-genotypes-in-transthyretin-familial-amyloid-polyneuropathy
#11
Balarama K Gundapaneni, Marla B Sultan, Denis J Keohane, Jeffrey H Schwartz
BACKGROUND: To better characterize the effects of tafamidis in non-Val30Met patients with transthyretin familial amyloid polyneuropathy, this post-hoc analysis compared the neurologic results from a 12-month, open-label study of non-Val30Met vs. Val30Met patients at Month 12 from the 18-month, double-blind, placebo-controlled registration study. A baseline covariate adjusted analysis was used to control for differences in baseline neurologic severity. METHODS: Neurologic function was assessed using the Neuropathy Impairment Score-Lower Limbs (NIS-LL) in three cohorts: Val30Met tafamidis (n = 64), Val30Met placebo (n = 61) and non-Val30Met tafamidis (n = 21)...
November 8, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29105153/making-sense-of-antisense-oligonucleotides-a-narrative-review
#12
Neelam Goyal, Pushpa Narayanaswami
Synthetic nucleic acid sequences that bind to ribonucleic acid (RNA) through Watson-Crick base pairing are known as antisense oligonucleotides (ASOs) because they are complementary to "sense strand" nucleic acids. ASOs bind to selected sequences of RNA and regulate the expression of genes by several mechanisms depending on their chemical properties and targets. They can be used to restore deficient protein expression, reduce the expression of a toxic protein, modify functional effects of proteins, or reduce toxicity of mutant proteins...
November 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29079197/clinical-outcomes-after-preimplantation-genetic-diagnosis-of-patients-with-corino-de-andrade-disease-familial-amyloid-polyneuropathy
#13
Rita Lopes, Mário Sousa, Joaquina Silva, Mariana Cunha, Cristiano Oliveira, José Teixeira da Silva, Luís Ferraz, Teresa Coelho, Filipa Carvalho, Alberto Barros
The aim of this study was to determine whether patients with transthyretin-related hereditary amyloidosis (V30M), after transplantation or under tafamidis treatment, have normal gamete reproductive capacity. A retrospective analysis was carried out of all preimplantation genetic diagnosis (PGD) cycles performed in patients with the V30M mutation. The groups analysed were: total cases with V30M, female cases with V30M and male cases with V30M. Detailed demographic, stimulation, embryological, clinical and newborn outcomes were evaluated...
October 12, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29060131/the-first-transthyretin-familial-amyloid-polyneuropathy-gait-quantification-study-preliminary-results
#14
Maria Do Carmo Vilas-Boas, Ana Patricia Rocha, Hugo Miguel Pereira Choupina, Jose Maria Fernandes, Teresa Coelho, Joao Paulo Silva Cunha
Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a rare neurological disease caused by a genetic mutation with a variable presentation and consequent challenging diagnosis, complex follow-up and treatment. At this moment, this condition has no cure and treatment options are under development. One of the disease's implications is a definite and progressive motor impairment that from the early stages compromises walking ability and daily life activities. The detection of this impairment is key for the disease onset diagnosis...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29052096/life-paths-of-patients-with-transthyretin-related-familial-amyloid-polyneuropathy-val30met-a-descriptive-study
#15
Alice Lopes, Alexandra Sousa, Isabel Fonseca, Margarida Branco, Carla Rodrigues, Teresa Coelho, Jorge Sequeiros, Paula Freitas
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood and is a disabling disease, posing a great psychological burden to patients and their families. Our aim was to describe and characterize life events related to the disease and discuss its psychosocial implications. Social and demographic data and a questionnaire on history of family and personal disease, and biographic events, were applied to 209 subjects attending an outpatient specialized clinic...
October 19, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29050191/-the-ocular-involvement-in-the-transthyretin-related-familial-amyloid-polyneuropathy
#16
H Y Lin, R P Dai
Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP), which is caused by mutant TTR, is a rare but fatal autosomal dominant disease. TTR is synthesized by the liver (95%) , the choroid plexus of the brain and the retinal pigment epithelium. FAP leads to peripheral neuropathy, and the main ocular manifestations are vitreous opacity (yellowish cotton-like), secondary glaucoma and keratoconjunctivitis sicca. Liver transplantation has proven to be the most effective treatment for TTR-FAP. Nowadays, tafamidis is the only drug approved for TTR-FAP (early stage)...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29048302/pre-symptomatic-testing-for-neurodegenerative-disorders-middle-to-long-term-psychopathological-impact
#17
Susana Lêdo, Ângela Leite, Teresa Souto, Maria A Pimenta Dinis, Jorge Sequeiros
BACKGROUND: Over the past 20 years, studies have revealed that the communication of a pre-symptomatic test (PST) result for late-onset diseases, such as Huntington’s disease (HD), doesn’t cause psychological disturbance. This cross-sectional study investigated the middle- (4 years) to long-term (7 and 10 years) psychological impact of PST for 3 autosomal dominant late-onset diseases: HD, Machado-Joseph disease (DMJ) and familial amyloid polyneuropathy (FAP). METHOD: The study included 203 subjects: 170 (84%) agreed to make the PST for FAP, 29 (14%) for HD and 4 (2%) for MJD...
November 2017: Psicothema
https://www.readbyqxmd.com/read/29018163/mtdna-copy-number-associated-with-age-of-onset-in-familial-amyloid-polyneuropathy
#18
Diana Santos, Maria João Santos, Miguel Alves-Ferreira, Teresa Coelho, Jorge Sequeiros, Isabel Alonso, Pedro Oliveira, Alda Sousa, Carolina Lemos, Manuela Grazina
BACKGROUND: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders, as in Portuguese families, where women display a later onset and a larger anticipation (>10 years). Mitochondrial DNA (mtDNA) copy number was assessed to clarify whether it has a modifier effect on AO variability in Portuguese patients. METHODS: The mtDNA copy number of 262 samples (175 Val30Met TTR carriers and 87 controls (proven Val30Val)) was quantified by quantitative real-time PCR...
October 10, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28993312/mmp-14-overexpression-correlates-with-the-neurodegenerative-process-in-familial-amyloidotic-polyneuropathy
#19
Diana Martins, João Moreira, Nádia Pereira Gonçalves, Maria João Saraiva
Levels of matrix metalloproteases (MMPs) can be differentially regulated in response to injury or neurological diseases. For instance, it is known that selective and short-term inhibition of MMP-14, a membrane-type 1 MMP, accelerates axon regeneration. Because axon growth and regeneration is impaired in familial amyloidotic polyneuropathy (FAP), a neurodegenerative disorder characterized by misfolding and deposition of mutant transthyretin (TTR) in the peripheral nervous system (PNS), we presently investigated the expression levels and the potential role for MMP-14 in this condition...
October 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28991715/clinical-and-pathological-findings-in-familial-amyloid-polyneuropathy-caused-by-a-transthyretin-e61k-mutation
#20
Tatsufumi Murakami, Hirotake Nishimura, Taiji Nagai, Shoji Hemmi, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunada
Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. The pathogenesis of this neuropathy remains unknown, although several mechanisms, including mechanical compression, vessel occlusion, TTR toxicity and Schwann cell dysfunction have been proposed. We describe a patient with late-onset FAP caused by a TTR E61K mutation...
October 15, 2017: Journal of the Neurological Sciences
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