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MedWorm: Amyloidosis



MedWorm.com provides a medical RSS filtering service. Over 7000 RSS medical sources are combined and output via different filters. This feed contains the latest news and research in the Amyloidosis category.



Last Build Date: Tue, 22 Mar 2016 08:29:27 +0100

 



Gene-targeting pharmaceuticals for single-gene disorders

Mon, 21 Mar 2016 00:00:00 +0100

The concept of orphan drugs for treatment of orphan genetic diseases is perceived enthusiastically at present, and this is leading to research investment on the part of governments, disease-specific foundations and industry. This review attempts to survey the potential to use traditional pharmaceuticals as opposed to biopharmaceuticals to treat single-gene disorders. The available strategies include the use of antisense oligonucleotides (ASOs) to alter splicing or knock-down expression of a transcript, siRNAs to knock-down gene expression and drugs for nonsense mutation read-through. There is an approved drug for biallelic knock-down of the APOB gene as treatment for familial hypercholesterolemia. Both ASOs and siRNAs are being explored to knock-down the transthyretin gene to prevent the r...

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Poikiloderma-like cutaneous amyloidosis - a rare presentation of primary localized cutaneous amyloidosis.

Sun, 20 Mar 2016 01:46:01 +0100

We present a case of a 62-year-old man who presented with the features of poikiloderma-like cutaneous amyloidosis. Diagnosis of this unique condition is a challenge and a skin biopsy is necessary in such instances. A discussion of the differential diagnosis of this condition is also included. PMID: 26990468 [PubMed - in process] (Source: Dermatol Online J)



Molecular insights into cell toxicity of a novel familial amyloidogenic variant of β2‐microglobulin

Sat, 19 Mar 2016 13:34:39 +0100

In this study, we characterized the D76N b2M aggregation path and performed an unprecedented analysis of the biochemical mechanisms underlying aggregate cytotoxicity. We showed that, contrarily to what expected from other amyloid studies, early aggregates of the mutant are not the most toxic species, despite their higher surface hydrophobicity. By modulating ganglioside GM1 content in cell membrane or synthetic lipid bilayers, we confirmed the pivotal role of this lipid as aggregate recruiter favouring their cytotoxicity. We finally observed that the aggregates bind to the cell membrane inducing an alteration of its elasticity (with possible functional unbalance and cytotoxicity) in GM1‐enriched domains only, thus establishing a link between aggregate‐membrane contact and cell damage. ...



Macular Amyloidosis and Epstein-Barr Virus.

Fri, 18 Mar 2016 23:06:01 +0100

Conclusion. The findings of this study showed that EBV is not involved in pathogenesis of macular amyloidosis. PMID: 26981113 [PubMed] (Source: Dermatology Research and Practice)



Molecular insights into cell toxicity of a novel familial amyloidogenic variant of β2-microglobulin.

Fri, 18 Mar 2016 00:00:00 +0100

In this study, we characterized the D76N b2M aggregation path and performed an unprecedented analysis of the biochemical mechanisms underlying aggregate cytotoxicity. We showed that, contrarily to what expected from other amyloid studies, early aggregates of the mutant are not the most toxic species, despite their higher surface hydrophobicity. By modulating ganglioside GM1 content in cell membrane or synthetic lipid bilayers, we confirmed the pivotal role of this lipid as aggregate recruiter favouring their cytotoxicity. We finally observed that the aggregates bind to the cell membrane inducing an alteration of its elasticity (with possible functional unbalance and cytotoxicity) in GM1-enriched domains only, thus establishing a link between aggregate-membrane contact and cell damage. ...



Single molecule study of initial structural features on the amyloidosis process

Thu, 17 Mar 2016 22:07:18 +0100

Chem. Commun., 2016, Accepted ManuscriptDOI: 10.1039/C6CC01292B, CommunicationYong-Xu Hu, Yi-Lun Ying, Zhen Gu, Chan Cao, Bingyong Yan, Hui-Feng Wang, Yi-Tao LongWe employed [small alpha]-hemolysin ([small alpha]-HL) nanopore as single-molecule tool to investigate the effects of initial structure on the amyloidosis process. The initial structure difference of two [small beta]-amyloid (A[small beta]) peptides (A[small beta]25-35 and...The content of this RSS Feed (c) The Royal Society of Chemistry (Source: RSC - Chem. Commun. latest articles)

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An Analysis of Diagnostic and Therapeutic Strategies in Advanced Cardiac al Amyloidosis

Thu, 17 Mar 2016 00:00:00 +0100

Prognosis of advanced cardiac light-chain amyloidosis (ACAL) is ominous. Diagnosis of ACAL is frequently preceded by several biopsies of non-clinically affected tissues, which can result in dangerous treatment delay. Combinations of alkylators and steroids have a limited role in therapy. Definite efficacy of bortezomib in ACAL is not well known.We analyze the diagnostic yield of biopsies and compare the effect of bortezomib with other therapeutic strategies in ACAL patients. (Source: The Journal of Heart and Lung Transplantation)



Nodular pulmonary amyloidosis with spontaneous fatal blood aspiration

Thu, 17 Mar 2016 00:00:00 +0100

Amyloidosis is a generic term for a heterogeneous group of protein folding disorders caused by extracellular deposition of insoluble abnormal fibrils, derived from aggregation of misfolded, normally soluble, proteins [1]. These accumulated amyloid fibrils progressively disrupt the structure and function of tissue and organs [2]. Amyloidosis can be hereditary or acquired, localized or systemic and is potentially lethal [3]. The rareness of this disease and the variable involvement of different organs and tissues are often responsible for missed or delayed diagnosis [1]. (Source: Forensic Science International)



Concomitant use of congo red staining and confocal laser scanning microscopy to detect amyloidosis in oral biopsy: A clinicopathological study of 16 patients.

Thu, 17 Mar 2016 00:00:00 +0100

Authors: Scivetti M, Favia G, Fatone L, Maiorano E, Crincoli V Abstract Twenty oral biopsies from 16 patients were analyzed both by traditional microscopy and by confocal laser scanning microscopy. Using conventional histopathological techniques, the diagnosis of amyloidosis was confirmed only in 15 biopsies. Using confocal laser scanning microscopy, amyloid deposits were detected in all of the samples. The current study shows that confocal laser scanning analysis helps to identify minimal amyloid deposits that could be overlooked using traditional microscopy, thus raising the sensitivity of oral biopsy up to 100%. PMID: 26986678 [PubMed - as supplied by publisher] (Source: Ultrastructural Pathology)



Cardiac amyloidosis: an unusual cause of low flow-low gradient aortic stenosis with preserved ejection fraction

Wed, 16 Mar 2016 00:00:00 +0100

(Source: European Journal of Echocardiography)



Speckle tracking echo to assess transthyretin amyloidosis type: is it useful (or necessary)?

Wed, 16 Mar 2016 00:00:00 +0100

(Source: European Journal of Echocardiography)

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Effective treatment with azathioprine for renal amyloidosis secondary to familial Mediterranean fever.

Wed, 16 Mar 2016 00:00:00 +0100

Authors: Sargin G, Senturk T, Cildag S PMID: 26982335 [PubMed - as supplied by publisher] (Source: Scandinavian Journal of Rheumatology)



Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

Wed, 16 Mar 2016 00:00:00 +0100

In conclusion, neuropathy and cardiomyopathy progressed in a significant proportion of patients despite treatment. However, worsening of neurological function slowed after the first 6 months and also subjects with more advanced neuropathy, as well as patients with non-Val30Met mutation, benefited from treatment. Body weight preservation is an important favorable prognostic factor. (Source: Journal of Neurology)



β-amyloid, hippocampal atrophy and their relation to longitudinal brain change in cognitively normal individuals.

Tue, 15 Mar 2016 14:38:02 +0100

Authors: Fletcher E, Villeneuve S, Maillard P, Harvey D, Reed B, Jagust W, DeCarli C Abstract Recent literature has examined baseline hippocampal volume and extent of brain amyloidosis to test potential synergistic effects on worsening cognition and extent of brain atrophy. Use of hippocampal volume in prior studies was based on the notion that limbic circuit degeneration is an early manifestation of the Alzheimer's Disease (AD) pathophysiology. To clarify these interactions early in the AD process, we tested the effects of amyloid and baseline normalized hippocampal volume on longitudinal brain atrophy rates in a group of cognitively normal individuals. Results showed that the combination of elevated β-amyloid and baseline hippocampal atrophy is associated with increased rates sp...



Pathophysiology of pruritus in primary localized cutaneous amyloidosis

Tue, 15 Mar 2016 00:00:00 +0100

ConclusionsSFN is present in PLCA. Pruritus in PLCA is likely associated with hypersensitivity of cutaneous nerve fibres, which may be related to an increased expression of epidermal IL‐31 receptors. Targeting IL‐31 receptors is therefore a potential therapeutic approach. (Source: British Journal of Dermatology)



Taxonomy and Imaging Manifestations of Systemic Amyloidosis

Sat, 12 Mar 2016 00:00:00 +0100

Amyloidosis is a heterogeneous group of disorders that are characterized by extracellular deposition of misfolded and aggregated autologous proteins leading to organ dysfunction. Amyloid deposits produce diverse clinical syndromes depending on their type, location, and the amount of deposition. Clinical and imaging features of amyloidosis in various organ systems are described. (Source: Radiologic Clinics of North America)

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Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever

Sat, 12 Mar 2016 00:00:00 +0100

Conclusions To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed. (Source: Revista Brasileira de Reumatologia)



Primary hepatic amyloidosis: A case report and review of literature.

Fri, 11 Mar 2016 13:09:02 +0100

We describe a case of 42-year-old female presenting with abdominal pain associated with loss of weight and fever for 8 mo. On evaluation she had gross hepatomegaly with raised alkaline phosphatase and raised GGT levels with normal transaminases and bilirubin. On imaging she had diffuse enlargement of liver with heterogeneous contrast uptake in liver. Her viral marker and autoimmune markers were negative. Liver biopsy depicted massive deposition of amyloid in peri-sinusoidal spaces which revealed apple green birefringence on polarizing microscopy after Congo red staining. Cardiac and renal evaluation was unremarkable. Abdominal fat pad and rectum biopsy was negative for amyloid deposit. There was no evidence of primary amyloidosis as bone marrow examination was normal. Serum and urine immun...



Association between Serum Triglycerides and Cerebral Amyloidosis in Cognitively Normal Elderly

Fri, 11 Mar 2016 00:00:00 +0100

Although many preclinical studies have suggested the possible linkage between dyslipidemia and cerebral amyloid deposition, the association between serum lipid measures and cerebral Aβ deposition in human brain is still poorly known. We aimed to investigate the association in cognitively normal (CN) elderly individuals. (Source: The American Journal of Geriatric Psychiatry)



Stimulation of brain glucose uptake by cannabinoid CB2 receptors and its therapeutic potential in Alzheimer's disease.

Fri, 11 Mar 2016 00:00:00 +0100

Authors: Köfalvi A, Lemos C, Martín-Moreno AM, Pinheiro BS, García-García L, Pozo MA, Valério-Fernandes Â, Beleza RO, Agostinho P, Rodrigues RJ, Pasquaré SJ, Cunha RA, de Ceballos ML Abstract Cannabinoid CB2 receptors (CB2Rs) are emerging as important therapeutic targets in brain disorders that typically involve neurometabolic alterations. We here addressed the possible role of CB2Rs in the regulation of glucose uptake in the mouse brain. To that aim, we have undertaken 1) measurement of (3)H-deoxyglucose uptake in cultured cortical astrocytes and neurons and in acute hippocampal slices; 2) real-time visualization of fluorescently labeled deoxyglucose uptake in superfused hippocampal slices; and 3) in vivo PET imaging of cerebral (18)F-fluorodeoxyglucose uptake. We now show ...



Do Not Harm Older Persons in Primary Care by Case Finding of Cognitive Decline, Instead Assess Cognition Only Following Loss of Well-being

Thu, 10 Mar 2016 00:00:00 +0100

The technical possibilities of mass online cognitive testing1 and identification of brain amyloidosis by positron emission tomography (PET) scanning and cerebrospinal fluid analysis,2 which allow early detection of cognitive decline and preclinical Alzheimer disease, urge for a clear guideline on screening and case finding in the elderly at risk population. Therefore, the pro and con series in this journal is greatly welcomed. However, we strongly disagree with the International Association on Gerontology and Geriatrics (IAGG) consensus statement, which proposed routine investigation of cognitive function in all persons aged 70 who visit their primary care physician. (Source: Journal of the American Medical Directors Association)

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Tough to Swallow: Esophageal Food Impaction from Esophageal Amyloidosis

Wed, 09 Mar 2016 00:00:00 +0100

(Source: Digestive Diseases and Sciences)






Common mechanisms involved in Alzheimer's disease and type 2 diabetes: a key role of chronic bacterial infection and inflammation.

Wed, 09 Mar 2016 00:00:00 +0100

This article reviews the evidence for the presence of local inflammation and bacteria in type 2 diabetes and discusses host pathogen interactions in chronic inflammatory disorders. Chlamydophyla pneumoniae, Helicobacter pylori and spirochetes are demonstrated in association with dementia and brain lesions in AD and islet lesions in type 2 diabetes. The presence of pathogens in host tissues activates immune responses through Toll-like receptor signaling pathways. Evasion of pathogens from complement-mediated attack results in persistent infection, inflammation and amyloidosis. Amyloid beta and the pancreatic amyloid called amylin bind to lipid bilayers and produce Ca(2+) influx and bacteriolysis. Similarly to AD, accumulation of amylin deposits in type 2 diabetes may result from an innate i...



Nail dystrophy as the initial sign of multiple myeloma‐associated systemic amyloidosis

Tue, 08 Mar 2016 00:00:00 +0100

(Source: Journal of Cutaneous Pathology)



Primary Amyloidosis Discovered During Pregnancy

Mon, 07 Mar 2016 00:00:00 +0100

(Source: Therapeutic Apheresis and Dialysis)

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Cyclophosphamide therapy for secondary amyloidosis in a patient with juvenile idiopathic arthritis unresponsive to tumor necrosis factor α inhibitor therapy.

Mon, 07 Mar 2016 00:00:00 +0100

Authors: Han SA, Yoon YM, Lee WS, Kim YS, Shin BC, Chung JH, Kim HL PMID: 26947026 [PubMed - as supplied by publisher] (Source: The Korean Journal of Internal Medicine)



The impact of renal function on the clinical performance of FLC measurement in AL amyloidosis

Sun, 06 Mar 2016 04:19:08 +0100

Journal Name: Clinical Chemistry and Laboratory Medicine (CCLM)Issue: Ahead of print (Source: Clinical Chemistry and Laboratory Medicine)



Guidelines for the management and treatment of periodic fever syndromes familial Mediterranean fever

Sat, 05 Mar 2016 09:07:21 +0100

Resumo Objetivo: Estabelecer diretrizes baseadas em evidências científicas para manejo da febre familiar do Mediterrâneo (FFM). Descrição do método de coleta de evidência: A diretriz foi elaborada a partir de 5 questões clínicas que foram estruturadas por meio do PICO (Paciente, Intervenção ou Indicador, Comparação e Outcome), com busca nas principais bases primárias de informação científica. Após definir os estudos potenciais para sustento das recomendações, esses foram graduados pela força da evidência e pelo grau de recomendação. Resultados: Foram recuperados, e avaliados pelo título e resumo, 10.341 trabalhos e selecionados 46 artigos para sustentar as recomendações. Recomendações: 1. O diagnóstico da FFM é baseado nas manifestações clínicas, caracteri...



Interleukin-31 Receptor and Pruritus Associated with Primary Localized Cutaneous Amyloidosis.

Fri, 04 Mar 2016 00:00:00 +0100

This article is protected by copyright. All rights reserved. PMID: 26941119 [PubMed - as supplied by publisher] (Source: The British Journal of Dermatology)



Increased susceptibility to metabolic dysregulation in a mouse model of Alzheimer's disease is associated with impaired hypothalamic insulin signaling and elevated BCAA levels.

Thu, 03 Mar 2016 03:04:02 +0100

We examined whether APP/PS1 mice exhibit increased susceptibility to aging or high-fat diet (HFD)-induced metabolic impairment using metabolic phenotyping and insulin-signaling studies. RESULTS: APP/PS1 mice were more susceptible to high-fat feeding and aging-induced metabolic dysregulation including disrupted BCAA homeostasis and exhibited impaired hypothalamic insulin signaling. DISCUSSION: Our data suggest that AD pathology increases susceptibility to diabetes due to impaired hypothalamic insulin signaling, and that plasma BCAA levels could serve as a biomarker of hypothalamic insulin action in patients with AD. PMID: 26928090 [PubMed - as supplied by publisher] (Source: The Journal of Alzheimers Association)

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Endoscopic Findings of Small-Bowel Lesions in Familial Amyloid Polyneuropathy: A Case Report

Tue, 01 Mar 2016 06:00:00 +0100

We report a rare case of FAP with gastrointestinal involvement. A 71-year-old woman complaining of refractory diarrhea for 1 year was referred to our institution. She had sensory disturbance, movement disorder due to muscle weakness, and autonomic nervous system disorders including orthostatic hypotension and dysuria. Her eldest sister had cardiac amyloidosis. Small-bowel radiography and retrograde double-balloon endoscopy (DBE) revealed that fine granular protrusions were diffusely observed both in the jejunum and ileum. Histologic examination of the biopsy specimens obtained from the small bowel revealed perivascular amyloid deposits mainly in the muscularis mucosae and submucosa, which were immunoreactive with transthyretin antibodies. Analysis of the genomic DNA showed a heterozygous ...



Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency

Tue, 01 Mar 2016 06:00:00 +0100

Abstract: The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood. This is a French and Belgian observational retrospective study from 2000 to 2014. To constitute the cohort, we cross-check the genetic and biochemical databases. The clinical, enzymatic, and genetic data were gathered from medical records. Twenty-three patients were analyzed. The mean age at diagnosis was 40 years, with a mean age at onset of symptoms of 3 years. All symptomatic patients had fever. Febrile attacks were mostly associated with arthralgia (90.9%); lymphadenopathy, abdominal pain, and skin lesions (86.4%); pharyngitis (63.6%); cough (59.1%); diarrhea, and hepatosplenomegaly (50.0%). Seven patients had psychiatric sympt...



Primary systemic amyloidosis with unusual dermatological manifestations: A rare case report

Tue, 01 Mar 2016 00:00:00 +0100

We present a case of idiopathic primary systemic amyloidosis presenting with an unusual finding of nodulo-ulcerative lesion over tongue along with multiple skin-colored nodules, mimicking squamous cell carcinoma of tongue with secondary cutaneous metastasis, as well as lacking the classical presentation of purpura, macroglossia, waxy papules, and plaques. (Source: Indian Journal of Dermatology)



Acceleration of hippocampal atrophy rates in asymptomatic amyloidosis.

Tue, 01 Mar 2016 00:00:00 +0100

Authors: Andrews KA, Frost C, Modat M, Cardoso MJ, AIBL, Rowe CC, Villemagne V, Fox NC, Ourselin S, Schott JM Abstract Increased rates of brain atrophy measured from serial magnetic resonance imaging precede symptom onset in Alzheimer's disease and may be useful outcome measures for prodromal clinical trials. Appropriate trial design requires a detailed understanding of the relationships between β-amyloid load and accumulation, and rate of brain change at this stage of the disease. Fifty-two healthy individuals (72.3 ± 6.9 years) from Australian Imaging, Biomarkers and Lifestyle Study of Aging had serial (0, 18 m, 36 m) magnetic resonance imaging, (0, 18 m) Pittsburgh compound B positron emission tomography, and clinical assessments. We calculated rates of whole brain and hippoc...



Partial BACE1 reduction in a Down syndrome mouse model blocks Alzheimer-related endosomal anomalies and cholinergic neurodegeneration: role of APP-CTF.

Tue, 01 Mar 2016 00:00:00 +0100

Authors: Jiang Y, Rigoglioso A, Peterhoff CM, Pawlik M, Sato Y, Bleiwas C, Stavrides P, Smiley JF, Ginsberg SD, Mathews PM, Levy E, Nixon RA Abstract β-amyloid precursor protein (APP) and amyloid beta peptide (Aβ) are strongly implicated in Alzheimer's disease (AD) pathogenesis, although recent evidence has linked APP-βCTF generated by BACE1 (β-APP cleaving enzyme 1) to the development of endocytic abnormalities and cholinergic neurodegeneration in early AD. We show that partial BACE1 genetic reduction prevents these AD-related pathological features in the Ts2 mouse model of Down syndrome. Partially reducing BACE1 by deleting one BACE1 allele blocked development of age-related endosome enlargement in the medial septal nucleus, cerebral cortex, and hippocampus and loss of cholin...

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Idiopathic nodular glomerulosclerosis: Report of two cases and review of literature

Tue, 01 Mar 2016 00:00:00 +0100

We report two cases of idiopathic nodular glomerulosclerosis, one in obese hypertensive male and the other in nonhypertensive, nonobese female patient. (Source: Indian Journal of Nephrology)



Molecular pathogenesis of human amyloidosis: Lessons from β2‐microglobulin‐related amyloidosis

Tue, 01 Mar 2016 00:00:00 +0100

Amyloidosis refers to a group of diseases with amyloid fibrils deposited in various organs and is classified into more than 30 diseases in humans based on the kind of amyloid protein. In order to elucidate the molecular pathogenesis of human amyloidosis, we studied the molecular mechanism of amyloid fibril formation in vitro. We first developed a novel fluorometric method to determine amyloid fibrils in vitro based on the unique characteristics of thioflavin T. We next proposed a nucleation‐dependent polymerization model to explain the general mechanism of amyloid fibril formation in vitro. Based on this model, we characterized the biological molecular interactions that promote or inhibit amyloid fibril formation in vitro and developed models of pathological molecular environment for ind...



Non-Hodgkin's lymphoma causing light-chain (AL) amyloidosis.

Tue, 01 Mar 2016 00:00:00 +0100

Authors: Dubrey SW, Patel K, Lachmann H, Sugai T, Cook T, Hill P PMID: 26961452 [PubMed - in process] (Source: British Journal of Hospital Medicine)



Risk Factors and Prognostic Role of Left Atrial Enlargement in Patients with Cardiac Light-Chain Amyloidosis.

Tue, 01 Mar 2016 00:00:00 +0100

CONCLUSIONS: In cardiac AL amyloidosis, age and early-to-atrial transmitral flow velocity ratio were main independent risk factors with regard to LA enlargement. LA enlargement was strongly associated with incidence of severe HF and was also a significant predictor of all-cause mortality. PMID: 26992256 [PubMed - in process] (Source: The American Journal of the Medical Sciences)



The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.

Mon, 29 Feb 2016 06:24:02 +0100

We present the first report of a Korean family with HGA diagnosed by WES. WES facilitated a clinical diagnosis of HGA in patients with undiagnosed neuropathies. PMID: 26915616 [PubMed - as supplied by publisher] (Source: Annals of Laboratory Medicine)

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Intraoral Ultrasonography to Tongue Mass Lesions.

Mon, 29 Feb 2016 06:05:02 +0100

CONCLUSION: Intraoral ultrasonography of the tongue revealed the nature of the lesions including the border, size, location, depth, presence or absence of a capsule, and the internal structure including vascularity of the mass. The ultrasonographic findings well reflected the histological findings. IOUS is a simple and useful technique that provides additional information beyond inspection, clarifying the internal structure, blood flow, and relationships to the adjacent tissues. In this report, we indicated eleven representative cases compared to pathological findings (fibrous polyp, hemangioma, pyogenic granuloma, lipoma, liposarcoma, chondroma, lymphangioma, shwannoma, neurofibroma, pleomorphic adenoma, and amyloidosis) to indicate the usefulness of IOUS. PMID: 26915405 [PubMed - as ...



Immunoglobulin light-chain amyloidosis – Diagnosed through electrocardiographic and echocardiographic features

Mon, 29 Feb 2016 00:00:00 +0100

Conclusions The coexistence of multiorgan dysfunction and the thickening of ventricular walls as shown by echocardiography combined with the lack of hypertrophy electrocardiographical features enables us to diagnose amyloidosis intravitally. (Source: Polish Annals of Medicine)



Protein trigger for juvenile idiopathic arthritis identified

Mon, 29 Feb 2016 00:00:00 +0100

US scientists have successfully identified a protein that plays a potentially key role in triggering juvenile idiopathic arthritis.Scientists at the Albert Einstein College of Medicine in New York have identified a human protein called transthyretin (TTR) that causes an autoimmune reaction in the joints of youngsters with this form of the disease - a discovery that could pave the way for new treatment options.The role of the TTR protein Juvenile idiopathic arthritis is the most common form of childhood arthritis and is understood to be an autoimmune disease, caused by antibodies attacking certain proteins in a person's own tissue.Prior to this study - published in the journal JCI Insight - no proteins triggering an immune attack had been associated with this particular disease. However...



Renal Artery Microaneurysm in a Woman With Amyloidosis.

Sun, 28 Feb 2016 23:24:02 +0100

We report a 44-year-old woman who was referred to our general hospital for evaluation of rising serum creatinine level, anemia, and pathological fracture. Two hours following renal biopsy, she developed severe pain in the left flank during voiding and ultrasonography revealed a large perinephric hematoma. She underwent angiography that incidentally showed pseudoaneurysm with diffused renal artery microaneurysm. The feeding artery to the pseudoaneurysm was completely ligated by an interventional radiologist. The subsequent histopathological report of the kidney revealed amyloidosis. PMID: 26921752 [PubMed - as supplied by publisher] (Source: Iranian Journal of Kidney Diseases)



Increased susceptibility to metabolic dysregulation in a mouse model of Alzheimer's disease is associated with impaired hypothalamic insulin signaling and elevated BCAA levels

Sun, 28 Feb 2016 00:00:00 +0100

We examined whether APP/PS1 mice exhibit increased susceptibility to aging or high-fat diet (HFD)-induced metabolic impairment using metabolic phenotyping and insulin-signaling studies. Results APP/PS1 mice were more susceptible to high-fat feeding and aging-induced metabolic dysregulation including disrupted BCAA homeostasis and exhibited impaired hypothalamic insulin signaling. Discussion Our data suggest that AD pathology increases susceptibility to diabetes due to impaired hypothalamic insulin signaling, and that plasma BCAA levels could serve as a biomarker of hypothalamic insulin action in patients with AD. (Source: Alzheimer's and Dementia: The Journal of the Alzheimer's Association)

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Complete Remission of Nephrotic Syndrome Without Resolution of Amyloid Deposit After Anti–Tumor Necrosis Factor α Therapy in a Patient With Ankylosing Spondylitis

Sat, 27 Feb 2016 11:19:58 +0100

We report the histological change after tumor necrosis factor α blocker therapy in patient with amyloid A amyloidosis and nephrotic syndrome secondary to underlying ankylosing spondylitis. The patient achieved complete remission of nephrotic syndrome after 17 months of etanercept treatment. We performed the second kidney biopsy after 40 months, and there was little change in the degree of amyloid deposition in the mesangial area and capillary loops compared with the first biopsy. The interstitial inflammation and foot process effacement, however, were fully recovered. (Source: JCR: Journal of Clinical Rheumatology)



Leading efforts to better understand amyloidosis diseases

Fri, 26 Feb 2016 14:00:00 +0100

Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today. We’re pleased to host a guest blog from Isabelle Lousada, president and CEO of the Amyloidosis Research Consortium. (Source: The Catalyst)



Structure of Serum Amyloid A Suggests a Mechanism for Selective Lipoprotein Binding and Functions: SAA as a Hub in Macromolecular Interaction Networks

Fri, 26 Feb 2016 00:00:00 +0100

This article is protected by copyright. All rights reserved. (Source: FEBS Letters)



MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics

Fri, 26 Feb 2016 00:00:00 +0100

Abstract Multiple endocrine neoplasia type 2A (MEN2A) may be rarely associated with cutaneous lichen amyloidosis (CLA), a skin lesion located in the interescapular region. Here, we describe 3 MEN2A-related CLA kindred and perform a systematic review (SR) of the literature on clinical, biochemical and molecular characteristics of MEN2A-related CLA patients. Thirty-eight patients with MEN2A-related CLA followed at our institution were evaluated. The median age at MEN2A diagnosis in our cohort was 25 (13–41) years, 68 % were women and all harbored codon 634 RET mutations. The literature search resulted in 20 publications that contributed with 25 MEN2A families and 214 individuals. The mean age of MEN2A diagnosis was 31 ± 17 years, with 77 % women. The mean age reported by pa...



Rapidly Progressive Transthyretin-Mediated Amyloidosis in a Domino Liver Transplant Recipient of a Ser23Asn Donor

Thu, 25 Feb 2016 17:09:09 +0100

We report a case of rapidly progressive transthyretin amyloidosis in a patient who received a liver from a donor with a rare Ser23Asn mutation. We advise exercising caution when considering domino liver transplantation in patients with this particular mutation. (Source: Journal of Clinical Neuromuscular Disease)

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Asymptomatic localized pleural amyloidosis mimicking malignant pleural mesothelioma: report of a case.

Thu, 25 Feb 2016 05:57:02 +0100

Authors: Nakano T, Endo S, Tetsuka K, Fukushima N Abstract We herein report an asymptomatic 65-year-old male with localized pleural amyloidosis mimicking malignant pleural mesothelioma. He had a history of exposure to asbestos and was admitted for investigation of an abnormal pleural thickness detected by chest radiography. Positron emission tomography showed elevation of standardized uptake value corresponding to the pleural thickness. Partial pleurectomy including the tumor was performed for the purpose of diagnosis and local disease control. The pathological examination showed that the tumor was pleural amyloidosis. The tumor was diagnosed as localized primary amyloidosis, because serum monoclonal protein concentration did not increase. Pleural amyloidosis should be considered a...



Primary amyloidosis

Thu, 25 Feb 2016 00:00:00 +0100

Indukooru Subrayalu Reddy, Gowrishankar SwarnalataIndian Journal of Dermatology, Venereology, and Leprology 2016 82(2):178-179 (Source: Indian Journal of Dermatology, Venereology and Leprology)



Amyloid in biopsies of the gastrointestinal tract—a retrospective observational study on 542 patients

Thu, 25 Feb 2016 00:00:00 +0100

Abstract In this retrospective observational study, we investigated the histopathological and demographic characteristics of amyloid in gastrointestinal biopsies. From the Amyloid Registry Kiel, we retrieved all cases with amyloid in biopsies of the stomach, duodenum, small intestine, large intestine, and rectum submitted for tertiary referral between January 2003 and April 2013. Amyloid was identified by Congo red staining in combination with polarization microscopy and classified by immunohistochemistry. The TTR-genotype was assessed in 56 patients. Amyloid type was correlated with demographic patient characteristics. Six hundred sixty-three biopsies from 542 patients were retrieved. Amyloid was found in each biopsy as vascular and/or interstitial amyloid deposits. Biopsies were...



Mp8: monoclonal gammopathy characterization using serum protein electrophoresis in a major urban population

Thu, 25 Feb 2016 00:00:00 +0100

Conclusions SPEP/IF analyses were used to characterize 50 patients. A wide-range of disorders were observed. MG patients were 11 years older than non-MG patients. IgG kappa was most common MG. Our study showed female-predominance. This study shows SPEP utility to discern various disorders observed at our institution. Abstract MP8 Figure 1 (Source: Journal of Investigative Medicine)



Anti-interleukin 1 treatment in secondary amyloidosis associated with autoinflammatory diseases

Wed, 24 Feb 2016 11:19:38 +0100

Conclusions This is the first series demonstrating progression of renal tissue damage after the improvement of proteinuria with anti-IL 1 in AID-associated amyloidosis. Anti-IL1 drugs are important to prevent further amyloid accumulation; however, new treatment strategies are needed to target the amyloid deposits. (Source: Pediatric Nephrology)

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An unusual case of amyloidosis leading to death

Mon, 22 Feb 2016 00:00:00 +0100

(Source: Internal Medicine Journal)



Cutaneous Manifestations of Multiple Myeloma and Other Plasma Cell Proliferative Disorders

Mon, 22 Feb 2016 00:00:00 +0100

Plasma cell proliferative disorders cause rare but extremely varied dermatologic manifestations that may occur as an accompaniment to established diagnoses, or may be a first clue of an underlying neoplasm in the setting of clinical suspicion. In some instances skin lesions result from aggregation of misfolded monoclonal immunoglobulins or their fragments, as in light-chain related systemic amyloidosis. In other occasions the cutaneous lesions result from deposits of malignant plasma cells or monoclonal proteins. (Source: Seminars in Oncology)






Ocular Myasthenia Gravis Associated With Thymic Amyloidosis

Fri, 19 Feb 2016 14:19:40 +0100

Abstract: A 45-year-old woman with ptosis and diplopia was found to have myasthenia gravis (MG) associated with amyloidosis of the thymus gland. Systemic MG is frequently associated with thymomas or thymic hyperplasia but has only once previously been reported in association with amyloidosis of the thymus. This case demonstrates that isolated ocular MG rarely may also be associated with amyloidosis of the thymus. (Source: Journal of Neuro-Ophthalmology)



Cardiac Assessment of Global Longitudinal Strain May Predict Early Mortality in Myeloma Patients Undergoing Melphalan ASCT

Fri, 19 Feb 2016 10:35:25 +0100

Patients undergoing high-dose melphalan followed by autologous stem cell transplant (Mel + ASCT) for multiple myeloma (MM) are subject to significant risk including fluid and electrolyte shifts and organ toxicity, particularly when there is pre-existing cardiovascular disease. Moreover, patients with MM have a 12-15% risk of developing clinical cardiac amyloidosis (CAL). It is not known whether subclinical CAL will affect outcomes in these patients. Echocardiography is the gold standard for the diagnosis of CAL with global longitudinal strain (GLS) and segmental longitudinal strain (SLS) as biomarkers for infiltrative cardiomyopathy. (Source: Biology of Blood and Marrow Transplantation)

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Autologous Hematopoietic Cell Transplant (AHCT) Offers Prolonged Progression Free and Overall Survival in Patients with Light Chain Amyloidosis (AL) Compared with Chemotherapy Alone

Fri, 19 Feb 2016 10:35:19 +0100

This study describes the HR and organ responses and compares the difference in outcomes between patients receiving chemotherapy alone (CT) vs. AHCT. (Source: Biology of Blood and Marrow Transplantation)



Retrospective Analysis of Nursing Interventions and Supportive Care for the Patients with AL Amyloidosis Receiving High-Dose Melphalan and Autologous Stem-Cell Transplantation

Fri, 19 Feb 2016 10:35:12 +0100

High-dose melphalan and autologous stem cell transplantation (HDM/ASCT) is an effective therapeutic option for the patients who suffer from systemic AL amyloidosis. Because of the nature of the disease, the recipients of HDM/ASCT are at high risk of various adverse events. The purpose of this study was to analyze the importance of nursing interventions and supportive care especially for patients with AL amyloidosis receiving HDM/ASCT. (Source: Biology of Blood and Marrow Transplantation)



Timing of Stem Cell Transplantation and Outcomes in Light Chain Amyloidosis

Fri, 19 Feb 2016 10:35:11 +0100

High dose chemotherapy and autologous stem cell transplantation (SCT) is an effective treatment for patients with systemic light chain amyloidosis (AL) who are able to undergo the procedure. Unfortunately, the majority of patients are SCT ineligible due to advanced disease or age. The treatment options have increased for patients with AL during the past decade, reflected in the improving survival in this patient group. Given the current treatment landscape, many patients undergo stem cell collection and then opt to continue with the initial therapy with the intent of utilizing the stem cells at a later time. (Source: Biology of Blood and Marrow Transplantation)



Smoldering Multiple Myeloma: Emerging Concepts and Therapeutics

Fri, 19 Feb 2016 00:00:00 +0100

Abstract Smoldering multiple myeloma (SMM) is a pre-malignant condition with an inherent risk for progression to multiple myeloma (MM). The 2014 IMWG guidelines define smoldering multiple myeloma as a monoclonal gammopathy disorder with serum monoclonal protein (IgG or IgA) ≥30 g/L or urinary monoclonal protein ≥500 mg per 24 h and/or clonal bone marrow plasma cells 10–60 % without any myeloma-defining events or amyloidosis. The risk for progression of SMM to MM vary based on clinical, laboratory, imaging, and molecular characteristics. Observation, with periodic monitoring is the current standard of care for SMM. Over last few years, research advances in SMM have led to the delineation of newer risk factors for progression and identification of a “high-risk” group t...



Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis

Fri, 19 Feb 2016 00:00:00 +0100

Abstract Transthyretin (TTR) transports the retinol-binding protein–vitamin A complex and is a minor transporter of thyroxine in blood. Its tetrameric structure undergoes rate-limiting dissociation and monomer misfolding, enabling TTR to aggregate or to become amyloidogenic. Mutations in the TTR gene generally destabilize the tetramer and/or accelerate tetramer dissociation, promoting amyloidogenesis. TTR-related amyloidoses are rare, fatal, protein-misfolding disorders, characterized by formation of soluble aggregates of variable structure and tissue deposition of amyloid. The TTR amyloidoses present with a spectrum of manifestations, encompassing progressive neuropathy and/or cardiomyopathy. Until recently, the only accepted treatment to halt progression of hereditary TTR amyl...

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Dementia-linked amyloidosis is associated with brain protein deamidation as revealed by proteomic profiling of human brain tissues

Fri, 19 Feb 2016 00:00:00 +0100

Aggregation of malformed proteins is a key feature of many neurodegenerative diseases, but the mechanisms that drive proteinopathy in the brain are poorly understood. We aimed to characterize aggregated protei... (Source: Molecular Brain)



Evolving landscape in the management of transthyretin amyloidosis.

Thu, 18 Feb 2016 06:09:02 +0100

Authors: Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB Abstract Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is a multisystemic, multigenotypic disease resulting from deposition of insoluble ATTR amyloid fibrils in various organs and tissues. Although considered rare, the prevalence of this serious disease is likely underestimated because symptoms can be non-specific and diagnosis largely relies on amyloid detection in tissue biopsies. Treatment is guided by which tissues/organs are involved, although therapeutic options are limited for patients with late-stage disease. Indeed, enthusiasm for liver transplantation for familial ATTR amyloidosis with polyneuropathy was dampened by poor outcomes among patients with significant neurological deficits or car...



Natural course of Finnish gelsolin amyloidosis.

Thu, 18 Feb 2016 06:09:02 +0100

CONCLUSIONS: The first symptom was ophthalmological in most cases. Except for CLD no prominent difference in the age of appearance was found between the major symptoms. CTS, cardiac pacemakers, and cardiomyopathy were remarkably more common compared to the general population. PMID: 26339870 [PubMed - in process] (Source: Annals of Medicine)



Adult-onset Still's disease-pathogenesis, clinical manifestations, and new treatment options.

Thu, 18 Feb 2016 06:09:02 +0100

Authors: Kadavath S, Efthimiou P Abstract Adult-onset Still's disease (AOSD), a systemic inflammatory disorder, is often considered a part of the spectrum of the better-known systemic-onset juvenile idiopathic arthritis, with later age onset. The diagnosis is primarily clinical and necessitates the exclusion of a wide range of mimicking disorders. AOSD is a heterogeneous entity, usually presenting with high fever, arthralgia, skin rash, lymphadenopathy, and hepatosplenomegaly accompanied by systemic manifestations. The diagnosis is clinical and empirical, where patients are required to meet inclusion and exclusion criteria with negative immunoserological results. There are no clear-cut diagnostic radiological or laboratory signs. Complications of AOSD include transient pulmonary hy...



Functional evaluation of secondary renal amyloidosis with diffusion-weighted MR imaging.

Thu, 18 Feb 2016 05:21:03 +0100

Conclusion DW-MRI is a useful and non-invasive diagnostic tool in diagnosing secondary renal amyloidosis and differentiating renal amyloidosis from other CKDs. ROIs had the highest sensitivity and specificity for assessing the involvement of renal amyloidosis. MRI diagnosis of AN may obviate a renal biopsy for diagnosis. PMID: 26727603 [PubMed - in process] (Source: Renal Failure)

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Novel strategies for the diagnosis and treatment of cardiac amyloidosis.

Wed, 17 Feb 2016 15:49:03 +0100

Authors: Palladini G, Milani P, Merlini G Abstract Systemic amyloidoses are rare, complex diseases caused by misfolding of autologous protein. The presence of heart involvement is the most important prognostic determinant. The diagnosis of amyloid cardiac involvement relies on echocardiography and magnetic resonance imaging, while scintigraphy with bone tracers is helpful in differentiating light chain amyloidosis from other types of amyloidosis involving the heart. Although these diseases are fatal, effective treatments exist that can alter their natural history, provided that they are started before irreversible cardiac damage has occurred. Refined diagnostic techniques, accurate patients' stratification based on biomarkers of cardiac dysfunction, the availability of novel, more ...



Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage

Wed, 17 Feb 2016 00:00:00 +0100

We present a report of a 47-year-old woman with developmental delay who presented with subarachnoid hemorrhage and acute hydrocephalus. She did not have an aneurysm, but there was symmetric calcification and gadolinium-enhancement of the meninges within the Sylvian fissure. Biopsy and genetic testing confirmed transthyretin-type amyloidosis. It is important to consider such rare causes in atypical presentations of non-aneurysmal subarachnoid hemorrhage. (Source: Journal of Clinical Neuroscience)



Hepatic Reactive Amyloidosis Secondary to Chronic Osteomyelitis

Wed, 17 Feb 2016 00:00:00 +0100

Authors: Rotimi Ayoola & Sumanth Daram (Source: The American Journal of Gastroenterology)



[Amyloidosis: Up-to-date].

Tue, 16 Feb 2016 23:15:02 +0100

Authors: Magy-Bertrand N Abstract Amyloidosis is mainly a systemic disease belonging to protein-folding diseases. The past 10 years have shown significant progress in typing and the clinical management of amyloidosis, in the identification of novel prognostic markers for risk-stratification, and also in the development of new therapeutic agents. Biological molecular techniques are now able to type amyloidosis which were unidentified. Cardiac MRI and biomarkers allow a precise risk-stratification, especially in AL amyloidosis. If necessary, this prognostic evaluation may lead to rapid changes in the chemotherapy treatment. Emerging treatments rely on biotherapies, gene therapy, immunotherapy and blocking analogous agents. They give hope about an increase of survival of patients wit...



Multimodality Imaging of Cardiac Transthyretin Amyloidosis 16 years after a Domino Liver Transplantation

Tue, 16 Feb 2016 00:00:00 +0100

This article is protected by copyright. All rights reserved. (Source: American Journal of Transplantation)

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Outcome of patients with systemic light chain amyloidosis with concurrent renal and cardiac involvement

Mon, 15 Feb 2016 00:00:00 +0100

In conclusion, median PFS and OS in patients with concurrent cardiac and renal AL were comparable to patients with cardiac AL only, but worse than patients with renal AL. (Source: European Journal of Haematology)



Astrocytes implicated in preclinical AD

Sat, 13 Feb 2016 07:36:28 +0100

Astrocytes are activated in the brains of people with autosomal dominant Alzheimer’s disease long before symptoms appear and even before amyloidosis begins, a study shows. (Source: MedWire News)



Trachyonychia as the presenting sign of myeloma‐associated amyloidosis

Fri, 12 Feb 2016 00:00:00 +0100

(Source: International Journal of Dermatology)



Bone marrow amyloid spherulites in a case of AL amyloidosis

Thu, 11 Feb 2016 00:00:00 +0100

Publication date: Available online 11 February 2016 Source:Blood Cells, Molecules, and Diseases Author(s): Karthik Bommannan B.K, MukinKumar Sonai, Man Updesh Singh Sachdeva (Source: Blood Cells, Molecules, and Diseases)



T-cell brain infiltration and immature antigen-presenting cells in transgenic models of Alzheimer’s disease-like cerebral amyloidosis

Thu, 11 Feb 2016 00:00:00 +0100

Publication date: Available online 9 February 2016 Source:Brain, Behavior, and Immunity Author(s): M.T. Ferretti, M. Merlini, C. Späni, C. Gericke, N. Schweizer, G. Enzmann, B. Engelhardt, L. Kulic, T. Suter, R.M. Nitsch Cerebral beta-amyloidosis, one of the pathological hallmarks of Alzheimer’s disease (AD), elicits a well-characterized, microglia-mediated local innate immune response. In contrast, it is not clear whether cells of the adaptive immune system, in particular T-cells, react to cerebral amyloidosis in AD. Even though parenchymal T-cells have been described in post-mortem brains of AD patients, it is not known whether infiltrating T-cells are specifically recruited to the extracellular deposits of beta-amyloid, and whether they are locally activated into prolifer...

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Nodular Cutaneous Amyloidosis Resembling a Giant Tumor

Wed, 10 Feb 2016 01:09:13 +0100

A 79-year-old man presented with a large tumor on the left side of his head, which had grown over 5 years. Regional lymph nodes were impalpable and computed tomography revealed no signs of bone infiltration. Histology showed that the entire dermis was filled with amorphous eosinophilic material. Immunohistochemistry was negative for cytokeratin, but showed that the dermis and parts of the subcutis were filled with amyloid consisting of immunoglobulin light chains. There were no signs of paraproteinemia or underlying plasmocytoma. In electron microscopy, the typical amyloid fibrils were found. The tumor was completely removed via curettage. At 1-year follow-up, the patient was doing fine with no signs of relapse or systemic disease.Case Rep Dermatol 2016;8:22-25 (Source: Case Reports in Der...



Magnetic resonance imaging classification of haemodialysis-related amyloidosis of the shoulder: risk factors and arthroscopic treatment

Tue, 09 Feb 2016 00:00:00 +0100

Conclusion A new MRI classification of HDS which may be helpful when considering arthroscopic surgeries has been proposed. Positive HCV infection was strongly associated with the progression of HDS on MRI. Conditions of the rotator interval and the rotator cuff based on the MRI classification should be examined when treating HDS patients. Level of evidence III. (Source: Knee Surgery, Sports Traumatology, Arthroscopy)



T-cell brain infiltration and immature antigen-presenting cells in transgenic models of Alzheimer's disease-like cerebral amyloidosis.

Tue, 09 Feb 2016 00:00:00 +0100

Authors: Ferretti MT, Merlini M, Späni C, Gericke C, Schweizer N, Enzmann G, Engelhardt B, Kulic L, Suter T, Nitsch RM Abstract Cerebral beta-amyloidosis, one of the pathological hallmarks of Alzheimer's disease (AD), elicits a well-characterized, microglia-mediated local innate immune response. In contrast, it is not clear whether cells of the adaptive immune system, in particular T-cells, react to cerebral amyloidosis in AD. Even though parenchymal T-cells have been described in post-mortem brains of AD patients, it is not known whether infiltrating T-cells are specifically recruited to the extracellular deposits of beta-amyloid, and whether they are locally activated into proliferating, effector cells upon interaction with antigen-presenting cells (APCs). To address these issue...



Colchicine Treatment for Tracheobronchial Amyloidosis

Mon, 08 Feb 2016 21:19:20 +0100

We report a case of a 63-year-old woman who presented with a diffuse tracheobronchial amyloidosis associated with laryngeal involvement, which required a percutaneous tracheostomy due to high-grade subglottic stenosis, with no evidence of systemic amyloidosis. After treatment exclusively with colchicine, she had a complete resolution of the stenotic area, with a very good response from the tracheobronchial amyloidosis disease, with only minor yellow plaques persisting. The patient has remained asymptomatic in the next 4 years of follow-up, with no evidence of endoscopic progression. This is the first documented case of this kind of response of tracheobronchial amyloidosis to colchicine treatment alone. A review of the available literature is presented.Respiration (Source: Respiration)



Spectrum of manifestations of monoclonal gammopathy-associated renal lesions

Fri, 05 Feb 2016 21:34:55 +0100

Purpose of review: Monoclonal gammopathies result from an overt malignant process, such as multiple myeloma, or a premalignant process, such as monoclonal gammopathy of undetermined significance. The kidney is often affected in the setting of a monoclonal gammopathy. The term ‘monoclonal gammopathy of renal significance (MGRS)’ was recently introduced to draw attention to renal diseases related to the monoclonal gammopathy. In this review, we define the pathology of these monoclonal gammopathy-associated kidney diseases. Recent findings: Renal disease can be caused by deposition of the monoclonal immunoglobulin (direct mechanism) or by activation of the alternative pathway of complement by the monoclonal immunoglobulin (indirect mechanism). The deposition of monoclonal immunoglobulin ...

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Strain Imaging: From Physiology to Practical Applications in Daily Practice

Fri, 05 Feb 2016 08:20:03 +0100

Non-Doppler, 2-dimensional strain imaging is a new echocardiographic technique for obtaining strain and strain rate measurements, which serves as a major advancement in understanding myocardial deformation. It analyzes motion in ultrasound imaging by tracking speckles in 2 dimensions. There are a lot of data emerging with multiple applications of strain imaging in the clinical practice of echocardiography. As incorporation of strain imaging in daily practice has been challenging, we intend to systematically highlight the top 10 applications of speckle-tracking echocardiography, which every cardiologist should be aware of: chemotherapy cardiotoxicity, left ventricular assessment, cardiac amyloidosis, hypertrophic obstructive cardiomyopathy, right ventricular dysfunction, valvular heart dise...



Inhibition by small-molecule ligands of formation of amyloid fibrils of an immunoglobulin light chain variable domain

Fri, 05 Feb 2016 00:00:00 +0100

Overproduction of immunoglobulin light chains leads to systemic amyloidosis, a lethal disease characterized by the formation of amyloid fibrils in patients' tissues. Excess light chains are in equilibrium between dimers and less stable monomers which can undergo irreversible aggregation to the amyloid state. The dimers therefore must disassociate into monomers prior to forming amyloid fibrils. Here we identify ligands that inhibit amyloid formation by stabilizing the Mcg light chain variable domain dimer and shifting the equilibrium away from the amyloid-prone monomer. DOI: http://dx.doi.org/10.7554/eLife.10935.001 (Source: eLife)



β-amyloid, hippocampal atrophy and their relation to longitudinal brain change in cognitively normal individuals

Fri, 05 Feb 2016 00:00:00 +0100

Recent literature has examined baseline hippocampal volume and extent of brain amyloidosis to test potential synergistic effects on worsening cognition and extent of brain atrophy. Use of hippocampal volume in prior studies was based on the notion that limbic circuit degeneration is an early manifestation of the Alzheimer’s Disease (AD) pathophysiology. To clarify these interactions early in the AD process, we tested the effects of amyloid and baseline normalized hippocampal volume on longitudinal brain atrophy rates in a group of cognitively normal individuals. (Source: Neurobiology of Aging)



(99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis.

Fri, 05 Feb 2016 00:00:00 +0100

Conclusion In ATTR amyloidosis, the outcome of (99m)Tc-DPD scintigraphy is strongly related to the patients' transthyretin amyloid fibril composition. PMID: 26849806 [PubMed - as supplied by publisher] (Source: Upsala Journal of Medical Sciences)



Primary Mediastinal Amyloidosis Diagnosed by Transbronchial Needle Aspiration.

Thu, 04 Feb 2016 05:32:04 +0100

Authors: Endo S, Yamamoto Y, Ogasa T, Ohsaki Y PMID: 26831033 [PubMed - in process] (Source: Internal Medicine)

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Ixazomib: First Global Approval

Thu, 04 Feb 2016 00:00:00 +0100

This article summarizes the milestones in the development of ixazomib leading to this first approval for multiple myeloma. (Source: Drugs)



Serum Amyloid A Protein Concentration in Blood is Influenced by Genetic Differences in the Cheetah (Acinonyx jubatus)

Thu, 04 Feb 2016 00:00:00 +0100

In this study, a novel genotyping assay was developed to screen for the alleles. The results show that the SAA1A –97delG allele is associated with decreased SAA protein concentrations in the serum of captive cheetahs (n = 58), suggesting genetic differences at this locus may be affecting AA amyloidosis prevalence. However, there was no significant difference in the frequency of the SAA1A –97delG allele between individuals confirmed AA amyloidosis positive versus AA amyloidosis negative at the time of necropsy (n = 48). Thus, even though there is evidence that having more copies of the SAA1A –97delG allele results in a potentially protective decrease in serum concentrations of SAA protein in captive cheetahs, genotype is not associated with this disease within the No...



Analysis of serum transthyretin by on‐line immunoaffinity solid‐phase extraction capillary electrophoresis mass spectrometry using magnetic beads

Mon, 01 Feb 2016 00:00:00 +0100

This article is protected by copyright. All rights reserved (Source: Electrophoresis)



99mTc‐aprotinin – optimisation and validation of radiolabelling kits for routine preparation for diagnostic imaging of amyloidosis

Mon, 01 Feb 2016 00:00:00 +0100

Abstract Technetium‐99m aprotinin was prepared from an optimised radiolabelling kit formulation containing aprotinin, alkaline buffer and stannous chloride (reducing agent) and radiolabelled using 99mTc‐pertechnetate. The labelling was achieved within 25 min, with radiochemical purities of >98%. Technetium‐99m aprotinin was prepared from an optimised radiolabelling kit formulation containing aprotinin, alkaline buffer and stannous chloride (reducing agent) and radiolabelled using 99mTc‐pertechnetate. The labelling was achieved within 25 min, with radiochemical purities of >98%. (Source: Journal of Labelled Compounds and Radiopharmaceuticals)



Interleukin‐31 Receptor and Pruritus Associated with Primary Localized Cutaneous Amyloidosis

Mon, 01 Feb 2016 00:00:00 +0100

This article is protected by copyright. All rights reserved. (Source: British Journal of Dermatology)

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Specific non-native interactions

Sat, 30 Jan 2016 00:00:00 +0100

Publication date: Available online 29 January 2016 Source:Journal of Molecular Biology Author(s): Cardine N. Nokwe, Manuel Hora, Martin Zacharias, Hisashi Yagi, Jirka Peschek, Bernd Reif, Yuji Goto, Johannes Buchner The aggregation of mostly antibody light chain variable (VL) domains into amyloid fibrils in various tissues is the main cause of death in systemic amyloid light chain amyloidosis. Point mutations within the domain are important to shift the VL into the fibrillar pathway. But why and how only some site-specific mutations achieve this still remains elusive. We show here that both destabilizing and surprisingly stable mutants readily predispose an amyloid resistant VL domain to amyloid formation. The decreased thermodynamic stability of the destabilizing mutant results ...



Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry

Fri, 29 Jan 2016 13:05:27 +0100

Conclusions: Large differences in survival were observed relative to different mutations and between mutations with similar phenotypes. Excellent survival was noted for mutations, such as Leu111Met, Val71Ala, and Leu58His. Patients with mutations other than Val30Met are not a homogeneous group, and the term non-Val30Met should be used with caution or avoided. Moreover, for several mutations, data are too limited to allow evaluation of the efficacy of LTx, and continuous international collaboration is important for obtaining treatment guidance. (Source: Transplantation)



Cutaneous lichen amyloidosis in multiple endocrine neoplasia

Wed, 27 Jan 2016 00:00:00 +0100

(Source: Internal Medicine Journal)



Non-epithelial tumors of the larynx: a single institution review

Wed, 27 Jan 2016 00:00:00 +0100

Conclusion Treatment approach of non-epithelial tumors of the larynx depends on the site and extent of the tumor, histology, and sensitivity of adjuvant therapy. Benign tumors can be managed without need for aggressive resection thereby sparing laryngeal function. (Source: American Journal of Otolaryngology)