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Primary amyloidosis

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https://www.readbyqxmd.com/read/29336782/loss-of-gpnmb-causes-autosomal-recessive-amyloidosis-cutis-dyschromica-in-humans
#1
Chi-Fan Yang, Shuan-Pei Lin, Chien-Ping Chiang, Yu-Hung Wu, Weng Siong H'ng, Chun-Ping Chang, Yuan-Tsong Chen, Jer-Yuarn Wu
Amyloidosis cutis dyschromica (ACD) is a distinct form of primary cutaneous amyloidosis characterized by generalized hyperpigmentation mottled with small hypopigmented macules on the trunks and limbs. Affected families and sporadic case subjects have been reported predominantly in East and Southeast Asian ethnicities; however, the genetic cause has not been elucidated. We report here that the compound heterozygosity or homozygosity of GPNMB truncating alleles is the cause of autosomal-recessive ACD. Six nonsense or frameshift mutations were identified in nine individuals diagnosed with ACD...
January 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29327051/primary-orbital-amyloidosis
#2
Manpreet Singh, Kolavali Raghavendra Rao, Ashim Das
No abstract text is available yet for this article.
January 11, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29319281/yellow-teardrop-like-structures-in-primary-nodular-skin-amyloidosis
#3
Nicola DI Meo, Cecilia Noal, Mattia Fadel, Giusto Trevisan
No abstract text is available yet for this article.
February 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29314707/comparison-of-early-versus-late-onset-familial-mediterranean-fever
#4
Nazife Sule Yasar Bilge, Ismail Sari, Dilek Solmaz, Soner Senel, Hakan Emmungil, Levent Kilic, Sibel Yilmaz Oner, Fatih Yildiz, Sedat Yilmaz, Duygu Ersozlu Bozkirli, Muge Aydin Tufan, Sema Yilmaz, Veli Yazisiz, Yavuz Pehlivan, Cemal Bes, Gozde Yildirim Cetin, Sukran Erten, Emel Gonullu, Fezan Sahin, Servet Akar, Kenan Aksu, Umut Kalyoncu, Haner Direskeneli, Eren Erken, Mehmet Sayarlioglu, Muhammed Cınar, Timucin Kasifoglu
AIM: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Currently there are limited data for the comparison of early versus late onset FMF and therefore the primary aim of this study was to investigate these two subsets with regard to their certain demographic, clinical and genetic differences. METHODS: Early (≤ 20 years, Group 1) and late (> 20 years, Group 2) onset FMF patients were identified from the national FMF registry that involves 2246 patients from 15 adult rheumatology clinics located in different geographical areas of Turkey...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29311044/multiple-myeloma-presenting-with-acquired-cutis-laxa-and-primary-systemic-amyloidosis
#5
Min Young Lee, Ji Yeon Byun, You Won Choi, Hae Young Choi
No abstract text is available yet for this article.
December 1, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29282382/massive-upper-and-lower-gi-bleed-from-simultaneous-primary-al-amyloidosis-of-the-stomach-and-transverse-colon-in-a-patient-with-multiple-myeloma
#6
Zubair Khan, Umar Darr, Anas Renno, Abhinav Tiwari, Aijaz Sofi, Ali Nawras
Symptomatic primary (amyloid light-chain or AL) amyloidosis of the gastrointestinal (GI) tract is very rare. Most of the patients with symptomatic involvement of the GI tract present with altered motility, malabsorption, or bleeding. We report a case of gastric and colonic amyloidosis on anticoagulation presenting with massive upper and lower GI bleeding. A 67-year-old lady known to have multiple myeloma and AL amyloidosis on rivaroxaban presented with massive upper GI bleeding. Esophagogastroduodenoscopy showed a mass lesion (3 × 7 cm) located along the greater curvature in the body/antrum with active bleeding...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29260587/right-ventricular-longitudinal-strain-a-tool-for-diagnosis-and-prognosis-in-light-chain-amyloidosis
#7
Charles Uzan, Olivier Lairez, Pascale Raud-Raynier, Rodrigue Garcia, Bruno Degand, Luc P Christiaens, Michaela B Rehman
OBJECTIVES: Light-chain (AL) amyloidosis can lead to an infiltrative cardiomyopathy with increased wall thickness (IWT) of very poor prognosis. Our primary aim was to analyse the right ventricle (RV) in patients with IWT to discriminate AL amyloidosis from IWT due to hypertrophic cardiomyopathy (HCM) or to arterial hypertension (HTN). Our secondary aim was to assess if RV dysfunction predicts overall mortality in cardiac AL amyloidosis. METHODS: We retrospectively and consecutively compared clinical, biological and echocardiographic data of 315 patients with IWT: 105 biopsy-proven AL amyloidosis patients, 105 patients with HCM and 105 patients with HTN...
December 20, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/29233480/forecasting-the-prevalence-of-preclinical-and-clinical-alzheimer-s-disease-in-the-united-states
#8
Ron Brookmeyer, Nada Abdalla, Claudia H Kawas, María M Corrada
INTRODUCTION: We forecast the prevalence of preclinical and clinical Alzheimer's disease (AD) and evaluated potential impacts of primary and secondary preventions in the United States. METHODS: We used a multistate model incorporating biomarkers for preclinical AD with US population projections. RESULTS: Approximately 6.08 million Americans had either clinical AD or mild cognitive impairment due to AD in 2017 and that will grow to 15.0 million by 2060...
November 29, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29223373/adverse-prognostic-factors-for-morbidity-and-mortality-during-peripheral-blood-stem-cell-mobilization-in-patients-with-light-chain-amyloidosis
#9
Jason C Yeh, Brandon R Shank, Denái R Milton, Muzaffar H Qazilbash
Patients with immunoglobulin light chain (AL) amyloidosis undergoing peripheral blood hematopoietic stem cell (PBSC) mobilization for autologous hematopoietic stem cell transplantation (auto-HCT) can experience significant morbidity and mortality. The purpose of this study was to describe the adverse events and identify prognostic factors associated with the development of morbidity and mortality in patients with AL amyloidosis who had begun PBSC mobilization for auto-HCT. A retrospective study was performed in 101 consecutive patients with AL amyloidosis who underwent PBSC mobilization for auto-HCT between January 2006 and December 2013...
December 6, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29222812/spheroid-type-of-al-amyloid-deposition-associated-with-colonic-adenocarcinoma-a-case-report-with-literature-review
#10
Moon Joo Kim, Zulfia McCroskey, Yingchao Piao, Anna Belcheva, Luan Truong, Paul J Kurtin, Jae Y Ro
We report a colonic adenocarcinoma associated with diffuse submucosal deposition of a peculiar spheroid-type amyloid identified in the colon, terminal ileum, and appendix. A 65-year-old woman with past medical histories of hypertension, and chronic obstructive pulmonary disease, presented to the emergency room with cramping abdominal pain and nausea. A computed tomography (CT) scan of abdomen showed right colonic volvulus. Emergency right hemicolectomy was performed. The specimen showed colonic adenocarcinoma with focal submucosal invasion (pT1) arising from a villotubular adenoma...
December 8, 2017: Pathology International
https://www.readbyqxmd.com/read/29201830/lymphedema-associated-with-primary-amyloidosis-a-case-study
#11
Gahee Park, Hye Won Jeong, Junhee Lee, Yeung-Chul Mun, Sun Hee Sung, Soo Jeong Han
We reported on a 60-year-old man presenting lymphedema of both lower extremities and scrotum for 3 years with unknown cause. We took a computed tomography scan of the lower extremities as a follow-up. There were diffuse subcutaneous edema in both lower extremities and multiple enlarged lymph nodes along the para-aortic and bilateral inguinal areas. For further evaluation, biopsy of an enlarged inguinal lymph node was taken, yielding a diagnosis of primary amyloidosis. A treatment of chemotherapy for amyloidosis was recommended for him...
October 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29196420/fibrillary-glomerulonephritis-in-primary-sjogren-s-syndrome-a-rare-cause-of-renal-failure
#12
Rahul Sehgal, Syed M Sajjad, Jiwan K Thapa
Renal involvement in primary Sjogren's syndrome (pSS) varies in severity and prevalence. Although previously felt to be uncommon, kidneys can be involved in up to 25%-30% of pSS patients. Fibrillary glomerulonephritis (FGN) is a rare primary glomerular disease that can occur in association with another autoimmune condition or malignancy. The diagnosis relies on renal biopsy findings of haphazardly arranged fibrils in all glomerular compartments and distinction from other forms of fibrillary glomerulopathies such as renal amyloidosis and immunotactoid glomerulopathy...
December 1, 2017: Clinical Medicine & Research
https://www.readbyqxmd.com/read/29173275/images-in-urology-localized-primary-amyloidosis-of-the-urinary-bladder
#13
Shawn Varghese, Nathan Colin Wong, Bobby Shayegan
No abstract text is available yet for this article.
December 1, 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/29146130/corrigendum-to-familial-primary-localized-cutaneous-amyloidosis-in-a-japanese-family-j-dermatol-sci-83-2016-162-164
#14
D Ueo, A Utani, Y Okubo, M Yozaki, Y Mine, T Anan, H Nishida, D Takahashi, T Sakai, Y Hatano, S Fujiwara
No abstract text is available yet for this article.
November 13, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29142197/proteotoxicity-in-cardiac-amyloidosis-amyloidogenic-light-chains-affect-the-levels-of-intracellular-proteins-in-human-heart-cells
#15
Esther Imperlini, Massimiliano Gnecchi, Paola Rognoni, Eduard Sabidò, Maria Chiara Ciuffreda, Giovanni Palladini, Guadalupe Espadas, Francesco Mattia Mancuso, Margherita Bozzola, Giuseppe Malpasso, Veronica Valentini, Giuseppina Palladini, Stefania Orrù, Giovanni Ferraro, Paolo Milani, Stefano Perlini, Francesco Salvatore, Giampaolo Merlini, Francesca Lavatelli
AL amyloidosis is characterized by widespread deposition of immunoglobulin light chains (LCs) as amyloid fibrils. Cardiac involvement is frequent and leads to life-threatening cardiomyopathy. Besides the tissue alteration caused by fibrils, clinical and experimental evidence indicates that cardiac damage is also caused by proteotoxicity of prefibrillar amyloidogenic species. As in other amyloidoses, the damage mechanisms at cellular level are complex and largely undefined. We have characterized the molecular changes in primary human cardiac fibroblasts (hCFs) exposed in vitro to soluble amyloidogenic cardiotoxic LCs from AL cardiomyopathy patients...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141071/usefulness-of-total-12-lead-qrs-voltage-as-a-clue-to-diagnosis-of-patients-with-cardiac-sarcoidosis-severe-enough-to-warrant-orthotopic-heart-transplant
#16
William C Roberts, Tiffany M Becker, Shelley A Hall
Importance: Severe heart failure caused by cardiac sarcoidosis is difficult to diagnosis without biopsy. Objective: To assess whether total electrocardiographic 12-lead QRS voltage may be a clue to diagnosis. Design, Setting, Participants: Case-series study with cases collected at Baylor University Medical Center at Dallas, Dallas, Texas, from January 13, 2005, to January 24, 2017. The clinical records of 16 patients with severe heart failure caused by cardiac sarcoidosis were studied...
November 15, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29121956/regional-differences-in-prognostic-value-of-cardiac-valve-plane-displacement-in-systemic-light-chain-amyloidosis
#17
Marco M Ochs, Thomas Fritz, Nisha Arenja, Johannes Riffel, Florian Andre, Derliz Mereles, Fabian Aus dem Siepen, Ute Hegenbart, Stefan Schönland, Hugo A Katus, Matthias G W Friedrich, Sebastian J Buss
BACKGROUND: To compare the prognostic value of cardiac valve plane displacement (CVPD) on various locations in cardiac light chain (AL) amyloidosis. METHODS: Consecutive patients with biopsy-proven cardiac involvement in AL amyloidosis who had undergone cardiovascular magnetic resonance (CMR) between 2005 and 2014 in our institution, were retrospectively identified and data analyzed. The primary combined endpoint was all-cause mortality or heart transplantation...
November 9, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/29097623/dnaj-heat-shock-protein-family-b-member-9-is-a-novel-biomarker-for-fibrillary-gn
#18
Surendra Dasari, Mariam P Alexander, Julie A Vrana, Jason D Theis, John R Mills, Vivian Negron, Sanjeev Sethi, Angela Dispenzieri, W Edward Highsmith, Samih H Nasr, Paul J Kurtin
Fibrillary GN (FGN) is a rare primary glomerular disease. Histologic and histochemical features of FGN overlap with those of other glomerular diseases, and no unique histologic biomarkers for diagnosing FGN have been identified. We analyzed the proteomic content of glomeruli in patient biopsy specimens and detected DnaJ heat shock protein family (Hsp40) member B9 (DNAJB9) as the fourth most abundant protein in FGN glomeruli. Compared with amyloidosis glomeruli, FGN glomeruli exhibited a >6-fold overexpression of DNAJB9 protein...
November 2, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29093408/the-long-term-outcomes-after-vad-plus-sct-therapy-in-a-patient-with-al-amyloidosis-and-severe-factor-x-deficiency
#19
Dosuke Iwadate, Eiko Hasegawa, Junichi Hoshino, Noriko Hayami, Keiichi Sumida, Masayuki Yamanouchi, Akinari Sekine, Masahiro Kawada, Rikako Hiramatsu, Tstsuya Suwabe, Naoki Sawa, Mitsuhiro Yuasa, Atsushi Waki, Takeshi Fujii, Kenichi Ohashi, Kenmei Takaichi, Yoshifumi Ubara
A 55-year-old man was admitted to our institute to undergo evaluation for proteinuria (5.4 g/day) with lambda-type Bence-Jones protein (BJP). Primary AL amyloidosis and acquired factor X deficiency were diagnosed. High-dose melphalan combined with autologous stem cell transplantation was performed. After three years, the patient's proteinuria normalized, he was negative for urinary BJP, and his factor X activity improved to 105%. Serial renal biopsy showed no progression of amyloid deposition at a biopsy after 5 years, but showed a slight increase in the amyloid deposition after 11 years...
November 1, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29077585/cardiovascular-complications-of-proteasome-inhibitors-used-in-multiple-myeloma
#20
Daniel C Cole, William H Frishman
The use of proteasome inhibitors (PI) as targeted chemotherapeutics have significantly improved survival in patients with multiple myeloma (MM). However, rare and serious cardiovascular complications have occurred as a result of their use, most commonly congestive heart failure, hypertension, and arrhythmias. MM occurs in an aged population with many concurrent cardiovascular risk factors. The primary disease process also contributes to cardiovascular complications. Furthermore, many MM patients have prior exposure to cardiotoxic chemotherapy such as anthracyclines...
October 25, 2017: Cardiology in Review
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