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Amyloidosis AND (Hattr OR Hereditary OR Familial)

Haruki Koike, Masahisa Katsuno
Transthyretin (TTR) amyloidosis is caused by systemic deposition of wild-type or variant amyloidogenic TTR (ATTRwt and ATTRv, respectively). ATTRwt amyloidosis has traditionally been termed senile systemic amyloidosis, while ATTRv amyloidosis has been called familial amyloid polyneuropathy. Although ATTRwt amyloidosis has classically been regarded as one of the causes of cardiomyopathy occurring in the elderly population, recent developments in diagnostic techniques have significantly expanded the concept of this disease...
February 5, 2019: Biomedicines
Projna Biswas, Dayamay Pal, Abhishek De, Gobinda Chatterjee, Arghyaprasun Ghosh, Sudip Das, Pijush Kanti Das, Aarti Sarda, Sumit Sen
Introduction: Primary cutaneous amyloidosis (PCA) can be classified into four principal categories: macular amyloidosis, lichen amyloidosis, biphasic, and nodular amyloidosis. Some unusual variants such as widespread diffuse hyperpigmentation without papules, poikiloderma like involvement, lesions following Blaschko's line, etc., have also been reported. However, not much data are available regarding the demography, epidemiology, clinical patterns, and distribution and histopathological findings, especially from the eastern part of India...
January 2019: Indian Journal of Dermatology
P Lu, F-F Wu, Z-L Rong, C Fang, C-C Deng, L-H Bin, B Yang
BACKGROUND: Primary localized cutaneous amyloidosis (PLCA) is a chronic pruritic skin disorder. The genetic basis of familial (f)PLCA involves mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes, but the disease pathophysiology is not fully understood. AIM: To investigate the OSMR mutation spectrum in patients with sporadic (s)PLCA/fPLCA, lichen/macular PLCA in mainland China. METHODS: This study was carried out on 64 patients with sPLCA, along with 36 with fPLCA and 10 unaffected individuals collected from 23 unrelated Chinese families...
February 7, 2019: Clinical and Experimental Dermatology
Lorena Saelices, Binh A Nguyen, Kevin Chung, Yifei Wang, Alfredo Ortega, Ji H Lee, Teresa Coelho, Johan Bijzet, Merrill D Benson, David S Eisenberg
The tetrameric protein transthyretin is a transporter of retinol and thyroxine in blood, cerebrospinal fluid, and the eye, and is secreted by the liver, choroid plexus, and retinal epithelium, respectively. Systemic amyloid deposition of aggregated transthyretin causes hereditary and sporadic amyloidoses. A common treatment of patients with hereditary transthyretin amyloidosis is liver transplantation. However, this procedure, which replaces the patient's variant transthyretin with the wild-type protein, can fail to stop subsequent cardiac deposition, ultimately requiring heart transplantation...
February 7, 2019: Journal of Biological Chemistry
Gian Luca Vita, Claudia Stancanelli, Luca Gentile, Costanza Barcellona, Massimo Russo, Gianluca Di Bella, Giuseppe Vita, Anna Mazzeo
Hereditary transthyretin amyloidosis (hATTR) is a life-threatening multisystemic disease with sensory-motor peripheral neuropathy, cardiomyopathy and dysautonomia. Although the six-minute walk test (6MWT) is one of the most popular clinical tests to assess functional exercise capacity in cardiopulmonary and neuromuscular diseases, little is known about 6MWT in evaluating hATTR patients. A prospective single-center pilot study was performed in twenty hATTR patients, comparing 6MWT with widely used outcome measures...
November 14, 2018: Neuromuscular Disorders: NMD
Tijn M Schouten, Frank de Vos, Sanneke van Rooden, Mark J R J Bouts, Anna M van Opstal, Rogier A Feis, Gisela M Terwindt, Marieke J H Wermer, Mark A van Buchem, Steven M Greenberg, Mark de Rooij, Serge A R B Rombouts, Jeroen van der Grond
Background Cerebral amyloid angiopathy ( CAA ) is a major cause of lobar intracerebral hemorrhage in elderly adults; however, presymptomatic diagnosis of CAA is difficult. Hereditary cerebral hemorrhage with amyloidosis-Dutch type ( HCHWA -D) is a rare autosomal-dominant disease that leads to pathology similar to sporadic CAA . Presymptomatic HCHWA -D mutation carriers provide a unique opportunity to study CAA -related changes before any symptoms have occurred. In this study we investigated early CAA -related alterations in the white matter...
February 5, 2019: Journal of the American Heart Association
Erika Aikawa, Toshimasa Shimizu, Tomohiro Koga, Yushiro Endo, Masataka Umeda, Tomoko Hori, Junji Irie, Kishio Kuroda, Mizuna Eguchi, Momoko Okamoto, Sosuke Tsuji, Ayuko Takatani, Takashi Igawa, Remi Sumiyoshi, Shin-Ya Kawashiri, Naoki Iwamoto, Kunihiro Ichinose, Mami Tamai, Hideki Nakamura, Tomoki Origuchi, Atsushi Kawakami
A 53-year-old man with recurrent episodes of large joint pain and a low-grade fever at irregular intervals for 16 years developed right knee and ankle arthralgia, watery diarrhea, and abdominal pain. Following an ileum and colon biopsy, he was diagnosed with gastrointestinal amyloidosis. We suspected familial Mediterranean fever (FMF) based on his history and administered colchicine; his symptoms subsequently improved. Thus, he was diagnosed with atypical FMF. After tocilizumab administration, the amyloid deposits disappeared...
February 1, 2019: Internal Medicine
Robert J Andrew, Pierre De Rossi, Phuong Nguyen, Haley R Kowalski, Aleksandra J Recupero, Thomas Guerbette, Sofia V Krause, Richard C Rice, Lisa Laury-Kleintop, Steven L Wagner, Gopal Thinakaran
Alzheimer's disease (AD) is pathologically characterized by the deposition of the amyloid-β (Aβ) peptide in senile plaques in the brain, leading to neuronal dysfunction and eventual decline in cognitive function. Genome-wide association studies have identified the bridging integrator 1 ( BIN1 ) gene within the second most significant susceptibility locus for late onset AD. BIN1 is a member of the amphiphysin family of proteins and has reported roles in the generation of membrane curvature and endocytosis...
January 28, 2019: Journal of Biological Chemistry
Nobuhiko Ohashi, Minori Kodaira, Hiroshi Morita, Yoshiki Sekijima
OBJECTIVE: To elucidate the electrophysiological demyelinating features in patients with hereditary ATTR amyloidosis that may lead to a misdiagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: In 102 patients with hereditary ATTR amyloidosis (85 Val30Met and 17 non-Val30Met; 37 and 65 from endemic and non-endemic areas, respectively), results of motor nerve conduction studies (MNCSs) with a 2-Hz low-cut filter in the unilateral ulnar and tibial nerves were retrospectively investigated to assess whether each MNCS parameter demonstrated demyelinating features that fulfil the European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic (EFNS/PNS EDX) criteria for CIDP...
January 26, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
Huri Ozdogan, Serdal Ugurlu
Familial Mediterranean Fever (FMF) is the oldest and the most frequent of all described hereditary periodic fever syndromes. The populations originating from Mediterranean basin carry the highest risk for FMF however it is being increasingly recognized in many parts of the world. It is an autoinflammatory disease with an autosomal recessive transmission. In the majority of the patients it is related with mutations in the MEFV gene that encodes a protein named pyrin. This protein has been shown to act as a regulator of inflammation mediated by IL-1β, which plays a major role in the pathogenesis of FMF...
January 24, 2019: La Presse Médicale
Konstantinos Liapis, Panagiota Panagopoulou, Evangelia Charitaki, Dorota Rowczenio, Janet Gilbertson, Alexandra Papathoma, Myrto Kostopoulou, Meletios A Dimopoulos, Julian D Gillmore, Efstathios Kastritis
No abstract text is available yet for this article.
January 26, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
Carmen Lahuerta Pueyo, Miguel Ángel Aibar Arregui, Anyuli Gracia Gutierrez, Esperanza Bueno Juana, Sebastián Menao Guillén
Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely underestimated. There are tools that can help us to study ATTR-m, as gnomAD database. Our primary aim was to estimate prevalence of variants, especially amyloidogenic variants, in the TTR gene using gnomAD database...
January 25, 2019: European Journal of Human Genetics: EJHG
Joel N Buxbaum, Thomas Brannagan, Juan Buades-Reinés, Eugenia Cisneros, Isabel Conceicao, Theodoros Kyriakides, Giampaolo Merlini, Laura Obici, Violaine Plante-Bordeneuve, Antoine Rousseau, Yoshiki Sekijima, Akira Imai, Márcia Waddington Cruz, Masahito Yamada
BACKGROUND: Ocular abnormalities have been known to occur in hereditary amyloidotic polyneuropathy since the 1950s. While vitreous opacities and scalloped pupils were described early it has become evident that every component of the eye from the conjunctiva to the retinal vasculature can be involved. Reports from the major centres in Japan, Portugal and Sweden, which primarily treat patients with ATTRV30M, have indicated that with the increased longevity seen in patients treated with liver transplantation the frequency of the more severe eye findings, notably vitreous opacities and subsequent glaucoma, are being detected more frequently...
January 24, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
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...
January 21, 2019: Zeitschrift Für Rheumatologie
Myrto Moutafi, Dimitrios C Ziogas, Spyros Michopoulos, Tina Bagratuni, Vassiliki Vasileiou, Laura Verga, Giampaolo Merlini, Giovanni Palladini, Charis Matsouka, Meletios A Dimopoulos, Efstathios Kastritis
BACKGROUND: Hereditary amyloidosis refers to a wide spectrum of rare diseases with different causative mutations in the genes of various proteins including transthyretin, apolipoprotein AI and AII, gelsolin, lysozyme, cystatin C, fibrinogen Aα-chain, β2-microglobulin, apolipoprotein CII and CIII. CASE PRESENTATION: Among hereditary amyloidosis subtypes, we describe here a specific case of Apolipoprotein AI amyloidosis (AApoAI), where the diagnosis began from an almost asymptomatic hepatomegaly followed by the development of primary hypogonadism...
January 21, 2019: BMC Medical Genetics
Junyi Yang
Hereditary transthyretin-mediated amyloidosis is caused by a mutation in transthyretin (TTR) gene resulting in misfolded TTR protein accumulating as amyloid fibrils. Patisiran is a lipid nanoparticle formulation of ribonucleic acid interference (RNAi), which can reduce the production of TTR. Areas covered: In this review, the chemical property, mechanism of action, pharmacokinetics, clinical efficacy, safety of patisiran were introduced. Expert Commentary: Patisiran offers a new treatment option for patients with hereditary transthyretin-mediated amyloidosis...
January 15, 2019: Expert Review of Clinical Pharmacology
Marco Luigetti, Giulia Bisogni, Angela Romano, Andrea Di Paolantonio, Francesco Barbato, Giulia Primicerio, Paolo Maria Rossini, Serenella Servidei, Mario Sabatelli
OBJECTIVE: To evaluate the utility of Sudoscan as possible marker of disease progression and disease onset in a cohort of hereditary ATTR amyloidosis (hATTR amyloidosis) polyneuropathy patients and carriers. PATIENTS AND METHODS: We regularly performed different clinical scales, nerve conductions studies (NCS), and Sudoscan on a cohort of hATTR amyloidosis patients and carriers from a single centre of central Italy, a non-endemic area, in the last 2 years. RESULTS: About 18 hATTR amyloidosis patients and 8 asymptomatic carriers were enrolled...
January 14, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
Vincent Algalarrondo, Teresa Antonini, Marie Théaudin, Denis Chemla, Anouar Benmalek, Denis Castaing, Cécile Cauquil, François Rouzet, Delphine Mika, Eric Duong, Sylvie Dinanian, Ludivine Eliahou, Dominique Le Guludec, Didier Samuel, David Adams, Michel S Slama
BACKGROUND: Hereditary transthyretin amyloidosis (ATTR) is a multisystemic disease involving mainly the peripheral nervous system and the heart. Liver transplantation (LT) is the reference treatment for ATTR neuropathy and preoperative detection of high risk patients is crucial. We aimed to document the causes of death of ATTR patients after LT, their temporal trends, and to evaluate whether the available preoperative tools that predict the risk of death after LT for hereditary ATTR amyloidosis matched with these trends...
January 11, 2019: Amyloid: the International Journal of Experimental and Clinical Investigation
Toni Giorgino, Davide Mattioni, Amal Hassan, Mario Milani, Eloise Mastrangelo, Alberto Barbiroli, Adriaan Verhelle, Jan Gettemans, Maria Monica Barzago, Luisa Diomede, Matteo de Rosa
AGel amyloidosis, formerly known as familial amyloidosis of the Finnish-type, is caused by pathological aggregation of proteolytic fragments of plasma gelsolin. So far, four mutations in the gelsolin gene have been reported as responsible for the disease. Although D187N is the first identified variant and the best characterized, its structure has been hitherto elusive. Exploiting a recently-developed nanobody targeting gelsolin, we were able to stabilize the G2 domain of the D187N protein and obtained, for the first time, its high-resolution crystal structure...
January 6, 2019: Biochimica et biophysica acta. Molecular basis of disease
Yinan Zhao, Yanguo Xin, Zhuyin Song, Zhiyi He, Wenyu Hu
BACKGROUND AND PURPOSE: Tafamidis functions to delay the loss of function in transthyretin familial amyloid polyneuropathy (TTR-FAP), which is a rare inherited amyloidosis with progressive sensorimotor and autonomic polyneuropathy. This systematic literature review and meta-analysis evaluated the efficacy and safety of tafamidis in TTR-FAP patients, with the aim of improving the evidence-based medical evidence of this treatment option for TTP-FAP. METHODS: A systematic search of the English-language literature in five databases was performed through to May 31, 2018 by two reviewers who independently extracted data and assessed the risk of bias...
January 2019: Journal of Clinical Neurology
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