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familial amyloid polyneuropathy

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https://www.readbyqxmd.com/read/29115008/tafamidis-delays-neurologic-progression-comparably-across-val30met-and-non-val30met-genotypes-in-transthyretin-familial-amyloid-polyneuropathy
#1
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
#2
REVIEW
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28983659/cardiac-and-peripheral-vasomotor-autonomic-functions-in-late-onset-transthyretin-val30met-familial-amyloid-polyneuropathy
#11
Haruki Koike, Tomohiko Nakamura, Atsushi Hashizume, Ryoji Nishi, Shohei Ikeda, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Gen Sobue
The objective of this study was to systematically investigate cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy (FAP ATTR Val30Met) patients from non-endemic areas. The coefficient of variation of R-R intervals (CVR-R), responses to the Valsalva manoeuvre, head-up tilt test with impedance cardiography, noradrenaline infusion test, and (123)I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy were assessed in eight patients. Although only four patients manifested orthostatic hypotension during the head-up tilt test, CVR-R, responses to the Valsalva manoeuvre, and myocardial MIBG uptake indicated a higher prevalence of cardiac sympathetic and parasympathetic dysfunction...
November 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28957343/a-prospective-observational-study-of-patients-with-uncommon-distal-symmetric-painful-small-fiber-neuropathy
#12
Jung-Lung Hsu, Ming-Feng Liao, Hui-Ching Hsu, Yi-Ching Weng, Ai-Lun Lo, Kuo-Hsuan Chang, Hong-Shiu Chang, Hung-Chou Kuo, Chin-Chang Huang, Long-Sun Ro
OBJECTIVE: To investigate the clinical characteristics of patients with uncommon distal symmetric painful small-fiber neuropathy (DSPSFN). METHODS: From September 2012 to September 2014, participants between 18-70 years of age that had DSPSFN defined by clinical signs/symptoms and ID pain > 2 or DN4 > 4 on questionnaires for more than 1 month were included. Participants who had previous historical or laboratory evidence of common etiologies of DSPSFN were excluded...
2017: PloS One
https://www.readbyqxmd.com/read/28922609/serum-proteomic-variability-associated-with-clinical-phenotype-in-familial-transthyretin-amyloidosis-attrm
#13
Gloria G Chan, Clarissa M Koch, Lawreen H Connors
Transthyretin (TTR), normally a plasma circulating protein, can become misfolded and aggregated, ultimately leading to extracellular deposition of amyloid fibrils usually targeted to heart or nerve tissues. Referred to as TTR-associated amyloidoses (ATTR), this group of diseases is frequently life threatening and fatal if untreated. ATTR, caused by amyloid-forming variant TTR proteins (ATTRm) that arise from point mutations in the TTR gene, were classically referred to as familial amyloid cardiomyopathy (FAC) or familial amyloid polyneuropathy (FAP), reflecting the clinical phenotype...
November 3, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28900607/de-novo-intraocular-amyloid-deposition-after-hepatic-transplantation-in-familial-amyloidotic-polyneuropathy
#14
Ivo Filipe Gama, Leonor Duarte Almeida
The familiar amyloid polyneuropathy (FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs more frequently and extensively in the vitq. The increase in intraocular pressure (IOP) is a result of deposition of transthyretin (TTR) in trabecular meshwork. Rarely, the amyloid deposition in anterior segment can be more exuberant than in posterior segment. A 42 years old man, with FAP (Val30Met mutation), liver transplantation in 1997. He was asymptomatic, without any significant ocular abnormality until 2011...
August 24, 2017: World Journal of Transplantation
https://www.readbyqxmd.com/read/28888072/characterization-of-isolated-amyloid-myopathy
#15
T Liewluck, M Milone
BACKGROUND AND PURPOSE: Amyloid myopathy frequently occurs in the setting of systemic amyloidosis and less commonly in isolation (isolated amyloid myopathy). Anoctaminopathy-5 and dysferlinopathy were recently recognized as causes of isolated amyloid myopathy. The present study aimed to characterize the isolated amyloid myopathy and to compare it with amyloid myopathy associated with systemic amyloidosis. METHODS: We searched the Muscle Laboratory database to identify patients with pathologically confirmed amyloid myopathy seen in neurology clinics between January 1998 and September 2016...
September 9, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28831719/petersen-s-hernia-after-living-donor-liver-transplantation
#16
Sodai Sakamoto, Ryoichi Goto, Norio Kawamura, Yasuyuki Koshizuka, Masaaki Watanabe, Minoru Ota, Tomomi Suzuki, Daisuke Abo, Kenichiro Yamashita, Toshiya Kamiyama, Akinobu Taketomi, Tsuyoshi Shimamura
BACKGROUND: Hepaticojejunostomy may be used for biliary reconstruction in certain cases of liver transplantation. In this occasion, Roux-en-Y biliary reconstruction is predominantly performed. Petersen's hernia is an internal hernia that can occur after Roux-en-Y reconstruction, and it may lead to extensive ischemic changes affecting incarcerated portions of the small bowel or Roux limb resulting in severe complications with a poor prognosis. CASE PRESENTATION: The present case was a 44-year-old male who underwent living donor liver transplantation (LDLT) for familial amyloid polyneuropathy and in whom biliary reconstruction was performed with Roux-en-Y hepaticojejunostomy...
August 23, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#17
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
2017: Public Health Genomics
https://www.readbyqxmd.com/read/28798722/autonomic-neuropathy-and-albuminocytologic-dissociation-in-cerebrospinal-fluid-as-the-presenting-features-of-primary-amyloidosis-a-case-report
#18
Jingjing Li, Yi Li, Hongbing Chen, Shihui Xing, Huiyu Feng, Dawei Liu, Dilong Wang, Jinsheng Zeng, Yuhua Fan
OBJECTIVE: Primary amyloidosis is a disease with a poor prognosis and multi-organ involvement. Here, we report the clinical and pathological features of a patient with primary amyloidosis featuring autonomic neuropathy as the initial symptom and albuminocytologic dissociation in the cerebrospinal fluid (CSF). METHODS: The patient was a 60-year-old Chinese male with numbness, orthostatic hypotension, and gastrointestinal symptoms. For diagnosis, we performed an electromyogram (EMG), lumbar puncture, Bence Jones protein urine test, serum electrophoresis blood test, sural nerve and rectal membrane biopsies, transthyretin (TTR) gene sequencing, and bone marrow puncture...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28762097/a-missense-variant-p-ala117ser-in-the-transthyretin-gene-of-a-han-chinese-family-with-familial-amyloid-polyneuropathy
#19
Qian Chen, Lamei Yuan, Xiong Deng, Zhijian Yang, Shengwang Zhang, Sheng Deng, Hongwei Lu, Hao Deng
Familial amyloid polyneuropathy (FAP) is a dominantly inherited disorder. This study aims to explore the genetic features of a Han Chinese family with FAP, characterized by bloating, alternating diarrhea and constipation, and weakness in his feet. Amyloid presented histologically in the vessel walls of hepatic portal area and nerves of the surgically excised liver specimens from the proband by hematoxylin and eosin staining. Amyloid deposition was further confirmed with Congo red treatment. A c.349G>T transversion (p...
July 31, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28719236/applying-an-artificial-neural-network-model-for-developing-a-severity-score-for-patients-with-hereditary-amyloid-polyneuropathy
#20
Shenia Novis, Felipe Machado, Victor B Costa, Debora Foguel, Marcia W Cruz, José Manoel de Seixas
Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validated. This work proposes the implementation of an artificial neural network (ANN) in order to develop a severity scale for monitoring the disease progression in FAP patients. In order to achieve this goal, relevant symptoms and laboratory findings were collected from 98 Brazilian patients included in THAOS - the Transthyretin Amyloidosis Outcomes Survey...
July 18, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
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