Argon gas knife combined with cryotherapy for amyloidosis leading to severe airway stenosis
Publication date: Available online 14 October 2019Source: Respiratory Medicine Case ReportsAuthor(s): Chunli Che, Fushi Dong, Xue Wu, Wei Wang, Lixue JiangAbstractObjectiveThis case report shows that bronchoscopy is an important method to treat severe airway stenosis caused by bronchial amyloidosis. Bronchoscopic forceps were used to incise the intra-tracheal lump repeatedly. The incision was frozen with a cryosurgery probe, argon knife was used to stop the bleeding until the airway lumen stenosis was reduced to approximately 40%, after which, it continued to enter the lumen. We used bronchoscopic biopsy forceps to repeate...
Source: Respiratory Medicine Case Reports - October 15, 2019 Category: Respiratory Medicine Source Type: research

An Unusual Cause of CPAP Intolerance
Continuous positive airway pressure (CPAP) is a first-line treatment for obstructive sleep apnea (OSA). However, the adherence to CPAP can be difficult for patients due to several reasons. In this case report we describe a patient with severe OSA who initially was treated successfully with CPAP, but after a few months adherence problems developed because of macroglossia. This was caused by amyloidosis due to multiple myeloma. During treatment with chemotherapy and stem cell transplantation, the size of the patient’s tongue decreased and he could successfully use his CPAP device again.Citation:van Loenhout L, van der ...
Source: Journal of Clinical Sleep Medicine : JCSM - October 15, 2019 Category: Sleep Medicine Source Type: research

The influence of genotype on disease severity and concomitant diseases in familial Mediterranean fever patients.
Authors: Aktaş A, Karadavut M, Cansu DÜ, Korkmaz C Abstract OBJECTIVES: To evaluate differences between the patients with familial Mediterranean fever (FMF) with homozygous (Hom), heterozygous (Het) and compound heterozygous (cHet) MEFV mutations in terms of clinical features and severity of the disease, as well as frequency of concomitant disorders, without focusing on Exon 10 mutations. METHODS: The patients with FMF were diagnosed using the Tel-Hashomer diagnostic criteria. The presence of MEFV mutations was investigated in exons 2,3,5 and 10 by multiplex-PCR reverse hybridisation method. All the patie...
Source: Clinical and Experimental Rheumatology - October 13, 2019 Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research

Listeria Monocytogenes Pericarditis in the Immune Compromised: A Case Report in a Newly Diagnosed Alpha Light Chain Cardiac Amyloidosis Patient.
Authors: Ghersin I, Abu Alheija O, Azzam ZS, Nasser R PMID: 31599514 [PubMed - in process] (Source: The Israel Medical Association Journal)
Source: The Israel Medical Association Journal - October 12, 2019 Category: General Medicine Tags: Isr Med Assoc J Source Type: research

Cardiac amyloidosis—an underdiagnosed cause of heart failure in the elderly
We present the case of an 84-year-old man with chest tightness, dyspnoea, and ascites. He had a history of dyslipidaemia and ischaemic heart disease. Initial investigations showed severe diastolic dysfunction and elevated pulmonary artery systolic pressure on echocardiogram along with elevated serum natriuretic peptides. Further evaluation by a magnetic resonance imaging scan of the heart and endomyocardial biopsy confirmed the diagnosis of senile systemic amyloidosis. He made good progress after treatment with conventional heart failure drugs and is currently under consideration to start on specific medications to slow do...
Source: Journal of the Saudi Heart Association - October 12, 2019 Category: Cardiology Source Type: research

A Changing Landscape of Mortality for Systemic Light Chain Amyloidosis
ConclusionsSurvival for patients with systemic AL amyloidosis has improved for patients at all stages of disease in the present era of rapid advancements in light chain-reducing therapies. Cardiac biomarkers at diagnosis, but not baseline dFLC ≥18 mg/dl, continue to provide important prognostic information.Central Illustration (Source: JACC: Heart Failure)
Source: JACC: Heart Failure - October 11, 2019 Category: Cardiology Source Type: research

Outpatient Autologous Stem Cell Transplants for Multiple Myeloma- Analysis of Safety and Outcomes in a Tertiary Care Center
ConclusionOutpatient ASCT is a safe and feasible treatment strategy with low TRM. Overall resource utilization are significantly lower than inpatient auto-transplantation: however, this requires a multidisciplinary approach with close follow up (Source: Clinical Lymphoma Myeloma and Leukemia)
Source: Clinical Lymphoma Myeloma and Leukemia - October 10, 2019 Category: Cancer & Oncology Source Type: research

Recognising and understanding cryopyrin-associated periodic syndrome in adults.
Abstract Cryopyrin-associated periodic syndrome (CAPS) is a group of rare hereditary autoinflammatory diseases characterised by recurrent flares of mild to severe systemic inflammation and fever. CAPS is the umbrella term for a spectrum of individual conditions, namely familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous and articular (CINCA) syndrome. The flare symptoms include fever, fatigue, rashes, headaches, arthralgia and myalgia that can last for a few hours or for severa...
Source: British Journal of Nursing - October 10, 2019 Category: Nursing Authors: Williams R, Hawkins P, Lane T Tags: Br J Nurs Source Type: research

99m Tc-aprotinin imaging in cardiac amyloidosis. Make an old tool new again?
(Source: Journal of Nuclear Cardiology)
Source: Journal of Nuclear Cardiology - October 10, 2019 Category: Nuclear Medicine Source Type: research

Differential roles of plasma protein corona on immune cell association and cytokine secretion of oligomeric and fibrillar beta-amyloid.
In this study, the effects of the plasma protein corona have been investigated with regard to the blood cell association and cytokine secretion of oligomeric (Aβo) and fibrillar Aβ1-42 (Aβf), two major forms of the peptide aggregates. Aβo displayed little change in membrane association in whole blood or washed blood (i.e., cells in the absence of plasma proteins) at 37 ºC, while Aβf showed a clear preference for binding with all cell types sans plasma proteins. Immune cells exposed to Aβo, but not to Aβf, resulted in significant expression of cytokines IL-6 and TNF measured in real-t...
Source: Biomacromolecules - October 10, 2019 Category: Biochemistry Authors: Faridi A, Yang W, Kelly HG, Wang C, Faridi P, Purcell AW, Davis TP, Chen P, Kent SJ, Ke PC Tags: Biomacromolecules Source Type: research

Beneficial Effect of Pimobendan for Severe Heart Failure Due to Transthyretin Cardiac Amyloidosis.
Conclusions In clinical practice, pimobendan seems to have beneficial effects in heart failure management for improving physical activities and the quality of life in patients with transthyretin cardiac amyloidosis. PMID: 31588087 [PubMed - as supplied by publisher] (Source: Internal Medicine)
Source: Internal Medicine - October 9, 2019 Category: Internal Medicine Tags: Intern Med Source Type: research

Cardiac Amyloidosis- an under-diagnosed cause of heart failure in the elderly
We present the case of an 84-years old man with chest tightness, dyspnoea and ascites. He had a history of dyslipidaemia and ischaemic heart disease. Initial investigations showed severe diastolic dysfunction and elevated PASP on echocardiogram along with elevated serum natriuretic peptides. Further evaluation by MRI scan of heart and endomyocardial biopsy confirmed the diagnosis of senile systemic amyloidosis. He made good progress after treatment with conventional heart failure drugs and is currently under consideration to start on specific medications to slow down the progression of amyloidosis. This case aims to increa...
Source: Journal of the Saudi Heart Association - October 9, 2019 Category: Cardiology Source Type: research

A case report of an uncommon presentation of 99mtechnetium pyrophosphate scintigraphy in transthyretin cardiac amyloidosis: A potential diagnostic pitfall, pseudo-positive or pseudo-negative?
In this report, we focus on an inconclusive study case as a potential pitfall of 99mTc-PYP scintigraphy and discuss the interpretation of 99mTc-PYP scintigraphy findings with using both planar and SPECT/CT imaging for improvement of diagnostic accuracy for ATTR cardiac amyloidosis. (Source: Journal of Cardiology Cases)
Source: Journal of Cardiology Cases - October 9, 2019 Category: Cardiology Source Type: research

Approach to the Diagnosis of Amyloidosis
AbstractAmyloidosis is heterogeneous group of disorder characterized by extracellular deposition of misfolded insoluble proteinaceous material with cross beta pleated sheet structure leading to organ dysfunction. This disease is rare and indeed heterogeneous, as it may be hereditary (familial amyloidosis), secondary to spectrum of inflammatory conditions (AA amyloidosis) or member of plasma cell neoplasm family (AL amyloidosis). AL amyloidosis is the most common type of amyloid, however, is rarely accompanied by multiple myeloma or other lymphoproliferative disorder. This disparity in its origin and presentation needs to b...
Source: Indian Journal of Hematology and Blood Transfusion - October 9, 2019 Category: Hematology Source Type: research

The utility of repeat kidney biopsy in systemic immunoglobulin light chain amyloidosis
. (Source: Amyloid: The Journal of Protein Folding Disorders)
Source: Amyloid: The Journal of Protein Folding Disorders - October 9, 2019 Category: Biochemistry Authors: Avital Angel-Korman Aala Jaberi Vaishali Sanchorawala Andrea Havasi Source Type: research

Cardiac amyloidosis. Two main subtypes and diagnosis by Nuclear Medicine: SPET tracer revival.
Authors: Valsamaki PN, Zissimopoulos A Abstract PMID: 31587024 [PubMed - as supplied by publisher] (Source: Hellenic Journal of Nuclear Medicine)
Source: Hellenic Journal of Nuclear Medicine - October 7, 2019 Category: Nuclear Medicine Tags: Hell J Nucl Med Source Type: research

Performance of 99m Tc-aprotinin scintigraphy for diagnosing light chain (AL) cardiac amyloidosis confirmed by endomyocardial biopsy
Conclusions99mTc-aprotinin scintigraphy is valuable for the non-invasive diagnosis of AL cardiac amyloidosis. (Source: Journal of Nuclear Cardiology)
Source: Journal of Nuclear Cardiology - October 7, 2019 Category: Nuclear Medicine Source Type: research

Hepatocyte-Targeted Delivery of siRNA Polyplex with PEG-Modified Lactosylated Dendrimer/Cyclodextrin Conjugates for Transthyretin-Related Amyloidosis Therapy.
Abstract Targeted drug delivery system (DDS) is required for RNA interference (RNAi) therapy to increase the therapeutic effect and to reduce the adverse effect. Especially in transthyretin (TTR)-related amyloidosis, hepatocyte specific delivery is desired because TTR mainly expresses in hepatocyte. Herein, we report on a hepatocyte-specific small interfering RNA (siRNA) delivery system using polyethylene glycol (PEG)-modified lactosylated dendrimer (generation 3; G3) conjugates with α-cyclodextrin (PEG-LαCs (G3)) for TTR-related amyloidosis therapy, and investigated the in vitro and in vivo gene silen...
Source: Biological and Pharmaceutical Bulletin - October 6, 2019 Category: Drugs & Pharmacology Authors: Hayashi Y, Higashi T, Motoyama K, Jono H, Ando Y, Onodera R, Arima H Tags: Biol Pharm Bull Source Type: research

Developing Trojan horses to Induce, Diagnose and Suppress Alzheimer’s Pathology
Publication date: Available online 4 October 2019Source: Pharmacological ResearchAuthor(s): Amal A. Aziz, Zareen AmtulAbstractThere are many obstacles impeding the Alzheimer’s disease (AD) research. For instance, its early diagnosis to identify individuals at risk has not been successful so far. AD animal models cannot be created without genetic pre-disposition or surgical manipulation. Single gene/protein delivery has so far failed to achieve significant clinical improvements in multifactorial AD. We hypothesize that the blood-brain barrier (BBB) penetration issues are the major obstacle in the development of curren...
Source: Pharmacological Research - October 5, 2019 Category: Drugs & Pharmacology Source Type: research

A case of amyloid light-chain amyloidosis presenting with submucosal hematoma and bleeding in the upper gastrointestinal tract
(Source: Clinical Gastroenterology and Hepatology)
Source: Clinical Gastroenterology and Hepatology - October 5, 2019 Category: Gastroenterology Authors: Yukari Tanaka, Kazuya Hosotani, Masashi Fukushima Tags: Image of the Month Source Type: research

Multimodal retinal imaging of familial amyloid polyneuropathy.
Conclusions: Different modalities of currently available non-invasive retinal imaging techniques, including OCT-A scans described for the first time in FAP, are safe and useful in detecting and analyzing retinal amyloidosis. Retinopathy in FAP in the studied group was more frequent than previously reported. PMID: 31576772 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

Diagnosis and Treatment of Cardiac Amyloidosis Related to Plasma Cell Dyscrasias
Light chain amyloidosis is a deadly disease in which a monoclonal plasma cell dyscrasia produces misfolded immunoglobulin light chains (AL) that aggregate and form rigid amyloid fibrils. The amyloid deposits infiltrate one or more organs, leading to injury and severe dysfunction. The degree of cardiac involvement is a major driver of morbidity and mortality. Early diagnosis and treatment are crucial to prevent irreversible end-organ damage and improve overall survival. Treatment of AL cardiac amyloidosis involves eliminating the underlying plasma cell dyscrasia with chemotherapy and pursuing supportive heart failure manage...
Source: Cardiology Clinics - October 4, 2019 Category: Cardiology Authors: Kevin M. Alexander, Alessandro Evangelisti, Ronald M. Witteles Source Type: research

Misdiagnosis of hATTR amyloidosis: a single US site experience
. (Source: Amyloid: The Journal of Protein Folding Disorders)
Source: Amyloid: The Journal of Protein Folding Disorders - October 4, 2019 Category: Biochemistry Authors: Chafic Karam Diana Dimitrova Stephen B. Heitner Source Type: research

Nodular localized primary cutaneous amyloidosis and primary Sj ögren's syndrome.
Nodular localized primary cutaneous amyloidosis and primary Sjögren's syndrome. Scand J Rheumatol. 2019 Oct 03;:1-2 Authors: Davies K, Collins A, Charlton FG, Ng WF PMID: 31578131 [PubMed - as supplied by publisher] (Source: Scandinavian Journal of Rheumatology)
Source: Scandinavian Journal of Rheumatology - October 3, 2019 Category: Rheumatology Authors: Davies K, Collins A, Charlton FG, Ng WF Tags: Scand J Rheumatol Source Type: research

Ocular amyloid: adnexal and systemic involvement.
Conclusions: The varied presentations of ocular adnexal and orbital amyloidosis and the need for confirmatory biopsy often leads to a significant delay between first symptoms and diagnosis. While rarely sight-threatening, ocular adnexal and orbital amyloidosis carries significant morbidities and has a systemic association in a quarter of patients. PMID: 31577164 [PubMed - as supplied by publisher] (Source: Orbit)
Source: Orbit - October 2, 2019 Category: Opthalmology Authors: Kang S, Dehabadi MH, Rose GE, Verity DH, Amin S, Das-Bhaumik R Tags: Orbit Source Type: research

An evaluation of patisiran: a viable treatment option for transthyretin-related hereditary amyloidosis.
Authors: Milani P, Mussinelli R, Perlini S, Palladini G, Obici L Abstract Introduction: Hereditary transthyretin-mediated amyloidosis (ATTRv; v for variant) is a rare, progressive, fatal multi-systemic disease, autosomal dominantly inherited with heterogeneous clinical phenotype caused by mutations in the TTR gene. Mutations promoting proteolytic remodeling and tetramer dissociation result in fragmented and full-length TTR monomers that misfold, aggregate and deposit at multiple sites (mainly nerves and heart) causing peripheral neuropathy and/or cardiomyopathy. Areas covered: The authors discuss patisiran, the fir...
Source: Expert Opinion on Pharmacotherapy - October 1, 2019 Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research

1086PN-terminal B-type natriuretic peptide (NT-proBNP) as an independed prognostic marker for patients with newly diagnosed multiple myeloma complicated by dialysis-dependent renal failure
ConclusionsAccording to our data, NT-proBNP> 7400  pg/ml are associated with the severity of kidney damage and the risk of non-cardiac mortality in ND MM patients.Legal entity responsible for the studyThe authors.FundingHas not received any funding.DisclosureAll authors have declared no conflicts of interest. (Source: Annals of Oncology)
Source: Annals of Oncology - October 1, 2019 Category: Cancer & Oncology Source Type: research

In the Editorial titled, “DSMA Renal Scan in Cardiac Amyloidosis: Are We Missing Something?” published in the June 2019 issue of Mayo Clinic Proceedings (Mayo Clin Proc 2019;94(6):936-938), the term DSMA should be replaced with DMSA in all instances, including the title. (Source: Mayo Clinic Proceedings)
Source: Mayo Clinic Proceedings - October 1, 2019 Category: Internal Medicine Tags: Correction Source Type: research

EP.107Transthyretin amyloidosis with variant Ile93Val mutation
Familial amyloid polyneuropathy (FAP) is a life-threatening disease transmitted as an autosomal dominant trait. FAP represents sensory-motor and autonomic neuropathy, carpal tunnel syndrome and cardiac phenotype. Transthyretin amyloidosis is the commonest form of FAP and has endemic distribution in Sweden, Portugal, Brazil, and Japan. A patient with features raising the possibility of familial amyloid polyneuropathy were referred to our clinic for clinical, imaging and laboratory evaluation. A 60-year-old woman was referred to neurology clinic for the evaluation of length-dependent tingling sensation and neuropathic pain i...
Source: Neuromuscular Disorders - October 1, 2019 Category: Neurology Authors: W. Kim, Y. La, Y. Choi Source Type: research

Extensive gastrointestinal amyloidosis due to multiple myeloma mimicking inflammatory bowel disease in a young male.
PMID: 31611464 [PubMed - in process] (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - October 1, 2019 Category: Pathology Authors: Ahuja A, Sharma V, Bhardwaj M, Marwah S, Lamoria S Tags: Indian J Pathol Microbiol Source Type: research

Challenges and Strategies in the Diagnosis of Cardiac Amyloidosis
Publication date: Available online 30 September 2019Source: Canadian Journal of CardiologyAuthor(s): Nowell M. FineAbstractThe diagnosis of cardiac amyloidosis can be challenging because it is regarded as a rare disease, frequently presents with nonspecific signs and symptoms, and there are a variety of diagnostic tests available. Approaches for the evaluation of patients with suspected cardiac amyloidosis have improved dramatically in recent years. The initial work-up is similar to all patients with heart failure, and certain findings on routine investigations may heighten the index of suspicion. Laboratory testing to scr...
Source: Canadian Journal of Cardiology - September 30, 2019 Category: Cardiology Source Type: research

Cardiac Amyloidosis: A Case Series from India.
Conclusion: Echocardiography and CMR imaging enable the diagnosis of CA in background of strong clinical suspicion. Abdominal fat pad biopsy is a simple and reliable method for confirming the diagnosis. Implications and Practice: The awareness of this entity can enable an early diagnosis and improve the survival with timely novel chemotherapy. PMID: 31562714 [PubMed - in process] (Source: Journal of the Association of Physicians of India)
Source: Journal of the Association of Physicians of India - September 30, 2019 Category: General Medicine Tags: J Assoc Physicians India Source Type: research

Amyloidosis Presenting as a Mass Abutting the Tympanic Membrane.
PMID: 31569979 [PubMed - as supplied by publisher] (Source: Ear, Nose and Throat Journal)
Source: Ear, Nose and Throat Journal - September 30, 2019 Category: ENT & OMF Authors: Chow K, Kaul VF, Iacob CE, Cosetti MK Tags: Ear Nose Throat J Source Type: research

Transthyretin cardiac amyloidosis due to homozygous Val122Ile mutation in a Caucasian man
Publication date: Available online 24 September 2019Source: Revista Española de Cardiología (English Edition)Author(s): Natalia Marrero Negrín, José María Medina Gil, María Loida García Cruz, Francisco Jiménez Cabrera (Source: Revista Espanola de Cardiologia)
Source: Revista Espanola de Cardiologia - September 25, 2019 Category: Cardiology Source Type: research

Transthyretin Cardiac Amyloidosis and Aortic Stenosis: Connection and Therapeutic Implications.
CONCLUSION: The relationship between aortic stenosis and transthyretin cardiac amyloidosis is not well understood. A few studies have proven successful surgical management when both conditions coexist. This systematic review suggests that transthyretin cardiac amyloidosis is common in elderly patients with aortic stenosis and tend to have high mortality rates after AVR. The significant incidence of the two diseases occurring simultaneously warrants further investigation to improve management strategies in the future. PMID: 31544701 [PubMed - as supplied by publisher] (Source: Current Cardiology Reviews)
Source: Current Cardiology Reviews - September 25, 2019 Category: Cardiology Tags: Curr Cardiol Rev Source Type: research

Structural mapping of oligomeric intermediates in an amyloid assembly pathway
Transient oligomers are commonly formed in the early stages of amyloid assembly. Determining the structure(s) of these species and defining their role(s) in assembly is key to devising new routes to control disease. Here, using a combination of chemical kinetics, NMR spectroscopy and other biophysical methods, we identify and structurally characterize the oligomers required for amyloid assembly of the protein DN6, a truncation variant of human β2-microglobulin (b2m) found in amyloid deposits in the joints of patients with dialysis-related amyloidosis. The results reveal an assembly pathway which is initiated by the fo...
Source: eLife - September 25, 2019 Category: Biomedical Science Tags: Structural Biology and Molecular Biophysics Source Type: research

Transthyretin cardiac amyloidosis: an update on diagnosis and treatment
AbstractTransthyretin cardiac amyloidosis (ATTR ‐CA) demonstrates progressive, potentially fatal, and infiltrative cardiomyopathy caused by extracellular deposition of transthyretin‐derived insoluble amyloid fibrils in the myocardium. Two distinct types of transthyretin (wild type or variant) become unstable, and misfolding forms aggregate, r esulting in amyloid fibrils. ATTR‐CA, which has previously been underrecognized and considered to be rare, has been increasingly recognized as a cause of heart failure with preserved ejection fraction among elderly persons. With the advanced technology, the diagnostic tools have...
Source: ESC Heart Failure - September 25, 2019 Category: Cardiology Authors: Hiroyuki Yamamoto, Tomoki Yokochi Tags: Review Source Type: research

Survival impact of achieving minimal residual negativity by multi-parametric flow cytometry in AL amyloidosis
. (Source: Amyloid: The Journal of Protein Folding Disorders)
Source: Amyloid: The Journal of Protein Folding Disorders - September 23, 2019 Category: Biochemistry Authors: Eli Muchtar Angela Dispenzieri Dragan Jevremovic David Dingli Francis K. Buadi Martha Q. Lacy Wilson Gonsalves Rahma Warsame Taxiarchis V. Kourelis Suzanne R. Hayman Prashant Kapoor Nelson Leung Stephen Russell John A. Lust Yi Lin Ronald S. Go Steven Zeld Source Type: research

A case of AL amyloidosis associated with follicular lymphoma with plasmacytic differentiation.
Abstract A 58-year-old woman underwent emergency surgical resection of the small intestine for intussusception as diagnosed at our hospital. Histopathological diagnosis of the resected specimen of the ileum was amyloid light chain (AL) amyloidosis. The colonoscopy after the surgical resection and following histopathological analysis of the biopsied specimens of the colon revealed follicular lymphoma (FL) grade 1 with plasmacytic differentiation. Histological findings of these ileal and colonic lesions were characteristic. In the ileum, CD10-positive lymphoid follicles and CD38-positive interfollicular plasma cell ...
Source: International Journal of Hematology - September 21, 2019 Category: Hematology Authors: Matsumoto Y, Masuda T, Nishimura A, Horie H, Harada K, Yoshida M, Shimura K, Kaneko H, Taniwaki M Tags: Int J Hematol Source Type: research

Quantitative 99m Tc-DPD SPECT/CT in patients with suspected ATTR cardiac amyloidosis: Feasibility and correlation with visual scores
ConclusionQuantitative99mTc-DPD SPECT/CT in suspected ATTR CA patients is feasible and allows for a more accurate assessment of myocardial uptake. (Source: Journal of Nuclear Cardiology)
Source: Journal of Nuclear Cardiology - September 19, 2019 Category: Nuclear Medicine Source Type: research

Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis
A wide range of rare diseases can have fiscal impacts on government finances that extend beyond expected healthcare costs. Conditions preventing people from achieving national lifetime work averages will influ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 18, 2019 Category: Internal Medicine Authors: Mark P. Connolly, Saswat Panda, Julien Patris and Bouke P. C. Hazenberg Tags: Research Source Type: research

Sj ögren syndrome-related plasma cell disorder and multifocal nodular AL amyloidosis: clinical picture and pathological findings
. (Source: Amyloid: The Journal of Protein Folding Disorders)
Source: Amyloid: The Journal of Protein Folding Disorders - September 18, 2019 Category: Biochemistry Authors: Shu-ichi Ikeda Akiyo Hineno Tsuneaki Yoshinaga Kiyoshi Matsuo Tomoaki Suga Takayuki Shiina Toshiaki Otsuki Yoshinobu Hoshii Source Type: research

Bortezomib-based treatment can improve factor X activity in immunoglobulin light-chain amyloidosis with factor X deficiency
. (Source: Amyloid: The Journal of Protein Folding Disorders)
Source: Amyloid: The Journal of Protein Folding Disorders - September 17, 2019 Category: Biochemistry Authors: Xia Wu Hui-Lei Miao Tie-Nan Zhu Jun Feng Lu Zhang Yue-Ying Mao Dao-Bin Zhou Xin-Xin Cao Jian Li Xia Wu Source Type: research

Regression of renal amyloid deposits by VAD therapy plus autologous stem cell transplantation in a patient with primary AL amyloidosis
We report a 58-year-old Japanese woman who presented with nephrotic syndrome. Steroid therapy and cyclosporine A administration were initiated, but hematological remission and renal response were not achieved. Renal biopsy revealed amyloid deposits in the mesangial region and the small arteries. Proteomic analysis based on laser microdissection and mass spectrometry showed that the amyloid deposits were composed of the constant region of the lambda light chain. She received vincristine, adriamycin, and dexamethasone therapy followed by high-dose melphalan and autologous stem cell transplantation, resulting in hematological...
Source: CEN Case Reports - September 14, 2019 Category: Urology & Nephrology Source Type: research

Amyloidosis secondary to chronic pulmonary aspergillosis: case report and a systematic review of literature
Publication date: Available online 12 September 2019Source: Journal de Mycologie MédicaleAuthor(s): Dharmesh Patel, Ritesh Agarwal, Sahajal Dhooria, Umapati Hedge, Hardik Patel, Inderpaul Singh SehgalAbstractSecondary amyloidosis results from the deposition of abnormally folded proteins in body organs due to chronic inflammatory disorders. Kidneys are the most commonly affected organ and manifest as nephrotic syndrome with or without renal failure. Chronic pulmonary aspergillosis (CPA) is a chronic infection of lung parenchyma affecting those with an underlying structural lung disease. Herein, we present a case of C...
Source: Journal of Medical Mycology - September 13, 2019 Category: Biology Source Type: research