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Blood 2019 Apr 9. Epub 2019 Apr 9.

pathology, Institut Universitaire du Cancer (IUCT), France

We previously reported a new form of LCDD presenting as diffuse cystic lung disorder that differs from the usual systemic form, with respect to the age, the male/female ratio, the involved organs, and the hematologic characteristics. We also demonstrated that the light chains were produced by an intrapulmonary B-cell clone and, that this clone shared a stereotyped antigen receptor IGHV4-34/IGKV1. However, we analyzed only 3 patients. Read More

Clin Nephrol 2019 Apr 9. Epub 2019 Apr 9.

The kidney is among the various anatomical sites involved in mucosa-associated lymphoid tissue (MALT) lymphoma. A variety of renal pathological types, including membranous glomerulopathy, membranoproliferative glomerulonephritis, crescentic IgA nephropathy, minimal change disease, and cryoglobulinemic glomerulopathy, have been reported in MALT lymphoma patients. However, cast nephropathy is extremely rare in MALT lymphoma. Read More

Am J Kidney Dis 2019 Apr 4. Epub 2019 Apr 4.

Division of Hematology, Mayo Clinic, Rochester, MN.

Heavy chain amyloidosis and heavy chain deposition disease are the only known kidney diseases caused by the deposition of truncated immunoglobulin heavy chains. Fibrillary glomerulonephritis typically results from deposition of DNAJB9 (DnaJ heat shock protein family [Hsp40] member B9) and polytypic immunoglobulin G (IgG). We describe a patient with monoclonal gammopathy (IgG with λ light chain) who developed DNAJB9-negative fibrillary glomerulonephritis leading to end-stage kidney disease, with recurrence in 2 kidney allografts. Read More

J Nucl Med 2019 Apr 6. Epub 2019 Apr 6.

Brigham and Women's Hospital, United States.

Immunoglobulin light chain amyloidosis (AL) affects multiple systemic organs. However, determination of the precise extent of organ involvement remains challenging. Targeted amyloid imaging with F-florbetapir PET/CT offers the potential to detect AL amyloid deposits in multiple organs. Read More

J Surg Case Rep 2019 Mar 29;2019(3):rjz021. Epub 2019 Mar 29.

Trauma Surgery and Surgical Critical Care, Geisinger Wyoming Valley Hospital, Wilkes-Barre, PA 18711, USA.

Splenic rupture in the absence of major trauma is a rare occurrence, which may occur by idiopathic means or a specific pathologic process. One such condition, amyloidosis, involves the extracellular deposition of abnormally folded 'amyloid' protein, which can affect the spleen. Protein infiltration in the organ may cause splenomegaly and potentially capsular rupture in advanced cases. Read More

J Nippon Med Sch 2019 ;86(1):2-9

Department of Analytic Human Pathology, Nippon Medical School.

Abnormal proliferation of plasma cells and some monoclonal B cells frequently cause the secretion of monoclonal immunoglobulins or immunoglobulin fragments into the serum, causing monoclonal gammopathy, which leads to various diseases including renal diseases. Therefore, monoclonal gammopathy is frequently associated with kidney diseases, including glomerular and tubulointerstitial diseases. Glomerular disease, with the deposition of monoclonal immunoglobulins or their components, includes monoclonal immunoglobulin deposition disease (MIDD), AL or AH amyloidosis, type I cryoglobulinemia, proliferative glomerulonephritis with monoclonal IgG deposits (PGNMID), immunotactoid glomerulopathy, and fibrillary glomerulonephritis. Read More

Nat Commun 2019 03 20;10(1):1269. Epub 2019 Mar 20.

Dipartimento di Bioscienze, Università degli Studi di Milano, Via Celoria 26, 20133, Milano, Italy.

Systemic light chain amyloidosis (AL)  is a life-threatening disease caused by aggregation and deposition of monoclonal immunoglobulin light chains (LC) in target organs. Severity of heart involvement is the most important factor determining prognosis. Here, we report the 4. Read More

Autophagy 2019 Mar 20:1-19. Epub 2019 Mar 20.

a Division of PK-PD-Toxicology and Formulation , CSIR-Indian Institute of Integrative Medicine , Jammu , India.

Imbalance in production and clearance of amyloid beta (Aβ) is the primary reason for its deposition in Alzheimer disease. Macroautophagy/autophagy is one of the important mechanisms for clearance of both intracellular and extracellular Aβ. Here, through screening, we identified alborixin, an ionophore, as a potent inducer of autophagy. Read More

Cureus 2018 Dec 18;10(12):e3749. Epub 2018 Dec 18.

Internal Medicine, American University of Integrative Sciences, Tucker, BRB.

Cardiac amyloidosis is an acquired heart disease secondary to the deposition of β-pleated amyloid proteins in heart tissue. Amyloid light chain (AL) amyloidosis is usually secondary to multiple myeloma and can rapidly deteriorate cardiac function, with high mortality. Up to 50% of AL patients have cardiac involvement presenting as heart failure, conduction abnormalities, and cardiomyopathies. Read More

CEN Case Rep 2019 Feb 25. Epub 2019 Feb 25.

Department of Nephrology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Proliferative glomerulonephritis with monoclonal immunoglobulin G (IgG) deposits (PGNMID) is a rare disease that recently became recognized. Its pathological findings are characterized by the deposition of a single heavy chain subclass and a single light chain isotype. PGNMID has been proven to recur in renal allografts. Read More

J Int Med Res 2019 Apr 25;47(4):1778-1786. Epub 2019 Feb 25.

*These authors contributed equally to this work.

Amyloid light chain (AL) amyloidosis is a protein conformational disease. AL amyloidosis results from aggregation of misfolded proteins that are deposited in tissues as amyloid fibrils. Diagnosis of AL amyloidosis can be challenging due to its low incidence and clinical complexity. Read More

Heart Fail Rev 2019 Feb 21. Epub 2019 Feb 21.

Mid-German Heart Center, Department of Internal Medicine III (KIM-III), Division of Cardiology, Angiology and Intensive Medical Care, University Hospital Halle, Martin-Luther-University Halle, Ernst-Grube-Strasse 40, D-06120, Halle (Saale), Germany.

Amyloidosis is caused by extracellular deposition of insoluble abnormal fibrils constituted by misfolded proteins, which can modify tissue anatomy and hinder the function of multiple organs including the heart. Amyloidosis that can affect the heart includes mostly systemic amyloidosis (amyloid light chain, AL) and transthyretin amyloidosis (ATTR). The latter can be acquired in elderly patients (ATTRwt), or be inherited in younger individuals (ATTRm). Read More

Eur J Case Rep Intern Med 2018 27;5(12):0001010. Epub 2018 Dec 27.

Serviço de Medicina 1, ULSAM, Viana do Castelo, Portugal.

Light-chain deposition disease is a rare paraproteinaemia characterized by deposition of monoclonal light-chain immunoglobulins with a non-amyloid structure, most frequently affecting the kidney. The authors present the case of a 58-year-old man admitted due to haemorrhagic shock caused by spontaneous splenic rupture. Investigation showed coagulopathy, homogeneous hepatomegaly with elevated cholestasis enzymes but normal bilirubinaemia, and a nephrotic syndrome with monoclonal kappa light chains. Read More

Dermatol Online J 2019 Jan 15;25(1). Epub 2019 Jan 15.

Department of Dermatology and Venereology, Centro Hospitalar São João, Porto.

Systemic immunoglobulin light chain amyloidosis is the most common and severe type of amyloidosis. There is an abnormal fibrillary protein deposition in tissues that leads to progressive and irreversible organ dysfunction. The most commonly affected organs are kidney and heart. Read More

Rev Mal Respir 2019 Jan 24. Epub 2019 Jan 24.

Département de pneumologie, hôpitaux de Brabois, CHU de Nancy, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.

Introduction: The natural history of orphan lung diseases is often unclear. We report the long-term follow-up of a case of bronchiectasis due to pulmonary non amyloid light chain deposition disease (LCDD).

Case Report: A 50-year-old woman who was a smoker, was diagnosed with diffuse thin walled bronchiectasis of uncertain origin after presenting with a respiratory tract infection. Read More

Nat Med 2019 Feb 21;25(2):277-283. Epub 2019 Jan 21.

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Neurofilament light chain (NfL) is a promising fluid biomarker of disease progression for various cerebral proteopathies. Here we leverage the unique characteristics of the Dominantly Inherited Alzheimer Network and ultrasensitive immunoassay technology to demonstrate that NfL levels in the cerebrospinal fluid (n = 187) and serum (n = 405) are correlated with one another and are elevated at the presymptomatic stages of familial Alzheimer's disease. Longitudinal, within-person analysis of serum NfL dynamics (n = 196) confirmed this elevation and further revealed that the rate of change of serum NfL could discriminate mutation carriers from non-mutation carriers almost a decade earlier than cross-sectional absolute NfL levels (that is, 16. Read More

BMJ Case Rep 2019 Jan 17;12(1). Epub 2019 Jan 17.

Cleveland Clinic Florida, Weston, Florida, USA.

Primary systemic or amyloid light chain (AL) amyloidosis is a multisystem disorder with myriad presentations. Although it can involve the upper gastrointestinal tract in 8% of cases, symptomatic involvement is exceedingly rare. We chronicle here a case of postprandial epigastric pain associated with AL amyloidosis involving the stomach and duodenum. Read More

Acta Haematol 2019 16;141(2):93-106. Epub 2019 Jan 16.

Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA,

The term amyloidosis refers to a group of disorders in which protein fibrils accumulate in certain organs, disrupt their tissue architecture, and impair the function of the effected organ. The clinical manifestations and prognosis vary widely depending on the specific type of the affected protein. Immunoglobulin light-chain (AL) amyloidosis is the most common form of systemic amyloidosis, characterized by deposition of a misfolded monoclonal light-chain that is secreted from a plasma cell clone. Read More

Internist (Berl) 2019 Jan;60(1):10-22

Klinik für Nieren- und Hochdruckerkrankungen, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland.

Background: Kidney involvement is a common complication in patients with plasma cell diseases.

Objective: This article outlines the spectrum of renal involvement in plasma cell dyscrasia and describes diagnostic and therapeutic measures to guide clinical management.

Material And Methods: Evaluation and discussion of the current literature as well as existing guidelines and recommendations of professional societies. Read More

Am J Dermatopathol 2018 Dec 20. Epub 2018 Dec 20.

Global Pathology Laboratory, Aurora Diagnostics, Miami Lakes, FL.

Lichen myxedematosus is a chronic cutaneous mucinosis that can present on a spectrum from localized cutaneous lesions to systemic disease of scleromyxedema. The clinical presentation of localized cutaneous lichen myxedematosus is waxy lichenoid papules, nodules, and/or plaques that have histopathologic findings of mucin deposition and a variable degree of fibroblast proliferation. There is an absence of serum paraproteins, and there are no other systemic causes of cutaneous mucinosis such as thyroid disease. Read More

BMJ Case Rep 2018 Dec 22;11(1). Epub 2018 Dec 22.

Division of Cardiology, Tripler Army Medical Center, Tripler, Hawaii, USA.

A 58-year-old man presented with a chief complaint of tongue indentations and discomfort. Otolaryngology treated him for oral thrush with counselling to avoid tongue biting. In addition, the patient reported dyspnoea described as a decrease in tolerance of his physical activities. Read More

Blood 2019 Feb 21;133(6):576-587. Epub 2018 Dec 21.

Department of Nephrology, CHU Poitiers, Poitiers, France.

Monoclonal immunoglobulin deposition disease (MIDD) is a rare complication of B-cell clonal disorders, defined by Congo red negative-deposits of monoclonal light chain (LCDD), heavy chain (HCDD), or both (LHCDD). MIDD is a systemic disorder with prominent renal involvement, but little attention has been paid to the description of extrarenal manifestations. Moreover, mechanisms of pathogenic immunoglobulin deposition and factors associated with renal and patient survival are ill defined. Read More

Clujul Med 2018 Oct 30;91(4):469-473. Epub 2018 Oct 30.

Gastroenterology and Hepatology Department, Mayo Clinic Florida, United States.

Gastrointestinal (GI) amyloidosis is rare and has varying clinical and endoscopic presentations. In this case series, we present three patients with primary systemic amyloid-light chain (AL) amyloidosis with GI involvement and complications of GI bleeding. We also provide a brief review of the literature, including clinical presentation, endoscopic findings, pathology, and management of GI amyloidosis. Read More

Medicine (Baltimore) 2018 Dec;97(50):e13589

National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China.

Rationale: Immunoglobulin light chain amyloidosis (AL amyloidosis) is characterized by the deposition of abnormal amyloid protein produced by a pathological plasma cell clone in various organs and soft tissues. Hematopoietic stem cell transplantation (HSCT) is an effective way to treat AL amyloidosis. Psoriasis is a common autoimmune disease (AID) and HSCT is a potential treatment for severe AIDs. Read More

Orv Hetil 2018 Sep;159(39):1575-1583

Szemészeti Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.

To summarize ophthalmological signs of monoclonal gammopathy of undetermined significance (MGUS) and to present a case report. Summary of the literature data and presentation of the history of a 46-year-old female patient. In MGUS, pathological, but non-malignant plasma cells produce abnormal monoclonal immunoglobulin. Read More

Clin Kidney J 2018 Dec 1;11(6):777-785. Epub 2018 Aug 1.

Nephrology Department, Hospital Universitari de Bellvitge, Idibell, Barcelona, Spain.

Renal injury is a common complication in multiple myeloma (MM). In fact, as many as 10% of patients with MM develop dialysis-dependent acute kidney injury related to increased free light chain (FLC) production by a plasma cell clone. Myeloma cast nephropathy (MCN) is the most prevalent pathologic diagnosis associated with renal injury, followed by light chain deposition disease and light chain amyloidosis. Read More

BMC Nephrol 2018 Nov 22;19(1):337. Epub 2018 Nov 22.

Kidney and Vascular Pathology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, 305-8575, Japan.

Background: Immunoglobulin heavy-and-light-chain amyloidosis (AHL amyloidosis) is a newly established disease entity where both the immunoglobulin heavy-chain and light-chain compose amyloid fibrils. The immunoglobulins responsible for the amyloid fibrils are generally identified by immunostaining and/or laser microdissection-liquid chromatography-tandem mass spectrometry (LMD-LC-MS/MS). However, both techniques do not biochemically differentiate immunoglobulins that formed amyloid fibrils from non-responsible immunoglobulins. Read More

J Clin Neurosci 2019 Jan 10;59:313-315. Epub 2018 Nov 10.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

Light chain deposition disease (LCDD) is a systemic disorder characterised by the pathologic deposition of immunoglobulin light chains, which is histologically distinguished from amyloidosis by failure to stain with Congo red. Central nervous system (CNS)-restricted LCDD is among the rarest manifestations. We describe a unique case complicated by focal onset epilepsy with impaired awareness for which control with anticonvulsant therapy proved difficult. Read More

BMC Nephrol 2018 Nov 12;19(1):322. Epub 2018 Nov 12.

Renal Division, Department of Medicine, Peking University First Hospital, Beijing, 100034, People's Republic of China.

Background: Monoclonal gammopathy of renal significance (MGRS) is a recently defined group of renal diseases caused by monoclonal immunoglobulin secreted by nonmalignant proliferative B cell or plasma cell. Monoclonal immunoglobulin can form different types of structures deposited in renal tissue, including fibrils, granules, microtubules, crystals and casts, and has mostly been reported in multiple myeloma patients. Here we report a rare case with κ light chain crystals in both podocytes and tubular epithelial cells associated with MGRS, which adds more information to the spectrum of MGRS-related renal diseases. Read More

PLoS One 2018 22;13(10):e0206167. Epub 2018 Oct 22.

Institute of Integrative Biology, University of Liverpool, Liverpool, United Kingdom.

Immunoglobulin light chain amyloidosis is the most common form of systemic amyloidosis. However, very little is known about the underlying mechanisms that initiate and modulate the associated protein aggregation and deposition. Model systems have been established to investigate these disease-associated processes. Read More

Ocul Oncol Pathol 2018 Sep 13;4(5):313-317. Epub 2018 Feb 13.

Department of Ophthalmology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Conjunctival amyloidosis is a rare cause of ocular inflammation, mass, and hemorrhage that can be difficult to diagnose and treat. In this case series, we describe 4 patients with a histopathological diagnosis of conjunctival amyloidosis treated at a single institution. All patients underwent surgical excision and biopsy. Read More

Pathologe 2018 Dec;39(Suppl 2):301-305

Institut für Pathologie, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Christian-Albrechts-Universität Kiel, Arnold-Heller-Straße 3/14, 24105, Kiel, Deutschland.

Amyloid is a pathologic fibrillar aggregation of polypeptides in a cross-β-sheet conformation. Amyloidoses are caused by the deposition of amyloid and may occur as cerebal and extracerebral diseases. A total of 35 different amyloid proteins have been identified. Read More

Nephrol Dial Transplant 2018 Oct 8. Epub 2018 Oct 8.

Department of Nephrology, First Faculty of Medicine, Charles University, Prague, Czech Republic.

AL amyloidosis (light chain; previously also called primary amyloidosis) is a systemic disease characterized by an amyloid deposition process affecting many organs, and which still has unsatisfactory survival of patients. The monoclonal light chains kappa (κ) or lambda (λ) or their fragments form the fibrils that deposit and accumulate in different tissues. Renal involvement is very frequent in AL amyloidosis and can lead to the development of nephrotic syndrome followed by renal failure in some cases. Read More

Clin J Gastroenterol 2019 Apr 19;12(2):176-181. Epub 2018 Sep 19.

Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Minami 1-Jo Nishi 16-Chome, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.

A 59-year-old woman presented to our hospital with a 6-month history of nausea, weight loss, and abdominal distension. Physical examination revealed abdominal distension without tenderness, and edema, numbness, and multiple peripheral neuropathy in the limbs. Blood test results showed anemia, hypoproteinemia, and hypoalbuminemia. Read More

Medicine (Baltimore) 2018 Sep;97(36):e12027

Department of Nephrology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang.

Rationale: Renal Fanconi syndrome (FS) is a rare complication of monoclonal gammopathy. It is characterized by the impairment of renal proximal tubular function leading to normoglycemic glycosuria, aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. Renal impairment in monoclonal gammopathy, without fulfilling the criteria of multiple myeloma, is categorized as monoclonal gammopathy of renal significance (MGRS). Read More

J Med Case Rep 2018 Sep 7;12(1):255. Epub 2018 Sep 7.

Department of Dermatology, University Hospital Joseph Raseta Befelatanana, Antananarivo, Madagascar.

Background: The association between pemphigus and malignancy has been well documented for decades but an association between pemphigus vulgaris and multiple myeloma is unusual. We report a case of pemphigus vulgaris revealing multiple myeloma.

Case Presentation: A 55-year-old Malagasy man, with no significant past medical history, presented with bullous and erosive skin lesions involving his trunk and scalp for the last 2 months. Read More

J Nephrol 2018 Oct 5;31(5):785-791. Epub 2018 Sep 5.

Department of Nephrology, Christian Medical College and Hospital, Vellore, Tamil Nadu, 632004, India.

Pregnancy offers a precious window of opportunity to diagnose previously undetected or new onset kidney diseases in emerging countries like India, where access to medical, educational and health care facilities are not equitably distributed across varied sections of society. We report a case of a 33 year-old primi gravida who had a successful pregnancy following what was initially considered to represent preeclampsia at 38 weeks of gestation, in whom a subsequent kidney biopsy for persistence of pregnancy-related acute kidney injury (Pr-AKI) revealed light chain deposition disease (LCDD). The etiological evaluation of LCDD led to the detection of an underlying plasma cell dyscrasia which was treated effectively with chemotherapy and autologous stem cell transplant. Read More

Ann Clin Lab Sci 2018 Jul;48(4):528-533

National Clinical Research Center of Kidney Disease, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China

Monoclonal immunoglobulins have been implicated in the development of C3 glomerulonephritis (C3GN) and Proliferative glomerulonephritis with monoclonal IgG deposits (PGNMID). We report a 58-year-old female who showed a switch from C3GN to PGNMID. She presented with mild proteinuria and normal renal function for the first time. Read More

Intern Med 2018 Dec 10;57(24):3651-3657. Epub 2018 Aug 10.

Department of Hematology, Fukushima Medical University, Japan.

Light chain deposition disease (LCDD) is a rare systemic disorder caused by the deposition of light chain immunoglobulins, which often results in renal impairment associated with either nephrotic syndrome or asymptomatic proteinuria. B-cell neoplasms, such as multiple myeloma and lymphoproliferative disorders, are well-known underlying diseases in LCDD. Some chemotherapy regimens have been reported, but both evidence-based treatment and management for LCDD have yet to be established. Read More

Toxicol Lett 2018 Oct 3;296:48-62. Epub 2018 Aug 3.

Advanced Environmental Research Institute, Department of Biological Sciences, University of North Texas, Denton, TX, 76201, USA. Electronic address:

Exposure to multi-walled carbon nanotubes (MWCNTs) has been associated with detrimental cardiovascular outcomes; however, underlying mechanisms have not yet been fully elucidated. Thus, we investigated alterations in proatherogenic and proinflammatory signaling pathways in C57Bl6/ mice exposed to MWCNTs (1 mg/m) or filtered air (FA-Controls), via inhalation, for 6 h/day, 14d. Expression of mediators of cholesterol transport, namely the lectin-like oxidized low-density lipoprotein receptor (LOX)-1 and ATP-binding cassette transporter (ABCA)-1, inflammatory markers tumor necrosis factor (TNF)-α and interleukin (IL)-1β/IL-6, nuclear-factor kappa-light-chain-enhancer of activated B cells (NF-κB), intracellular/vascular adhesion molecule(s) (VCAM-1, ICAM-1), and miRNAs (miR-221/-21/-1), associated with cardiovascular disease (CVD), were analyzed in cardiac tissue and coronary vasculature. Read More

Hum Pathol 2018 Dec 29;82:177-186. Epub 2018 Jul 29.

Division of Anatomic Pathology, Mayo Clinic, Rochester, 55905 MN. Electronic address:

Primary biliary cholangitis (PBC) is a progressive autoimmune disease of the liver causing destruction of intrahepatic bile ducts, associated with lymphocytic and granulomatous inflammation. PBC has been associated with many extrahepatic manifestations including interstitial lung disease. However, comprehensive pulmonary histopathology in PBC has not been well documented. Read More

Hepatology 2019 Feb 17;69(2):785-802. Epub 2018 Dec 17.

Cellular and Molecular Biomechanics Laboratory, Department of Bioengineering, Imperial College London, London, United Kingdom.

Hepatic stellate cells (HSCs) are essential perisinusoidal cells in both healthy and diseased liver. HSCs modulate extracellular matrix (ECM) homeostasis when quiescent, but in liver fibrosis, HSCs become activated and promote excess deposition of ECM molecules and tissue stiffening via force generation and mechanosensing. In hepatocellular carcinoma (HCC), activated HSCs infiltrate the stroma and migrate to the tumor core to facilitate paracrine signaling with cancer cells. Read More

Int J Cardiol 2018 Nov 23;271:371-377. Epub 2018 Jul 23.

Department of Cardiology, Sapienza University, Rome, Italy; Department of Hematology, Sapienza University, Rome, Italy; Department of Medicine, Sapienza University, Rome, Italy.

Background: Given that in patients with cardiac amyloidosis (CA), deposition of amyloid protein is not restricted to the left ventricular (LV) myocardium, it can be hypothesized that the diagnostic value of deformation mechanics would be enhanced by considering right ventricular (RV) strain measures. The aim of the present study was to examine the potential utility of left ventricular (LV) and right ventricular (RV) deformation and rotational parameters derived from three-dimensional speckle-tracking echocardiograph (3DSTE) to diagnose cardiac amyloidosis and differentiate this disease from other forms of myocardial hypertrophy.

Methods: Twenty-three patients with biopsy-proven light-chain (AL) amyloidosis, 23 patients with systemic arterial hypertension (HTN), 23 patients with hypertrophic cardiomyopathy (HCM), 23 athletes and 23 normal controls were prospectively studied by conventional echocardiography and 3DSTE. Read More

Front Physiol 2018 10;9:863. Epub 2018 Jul 10.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

Striated preferentially expressed gene (Speg) is a member of the myosin light chain kinase family of proteins. Constitutive Speg deficient (Speg) mice develop a dilated cardiomyopathy, and the majority of these mice die or shortly after birth. In the present study we assessed the importance of Speg in adult mice. Read More

Am J Hematol 2018 Sep;93(9):1169-1180

Division of Hematology, Mayo Clinic, Rochester, Minnesota.

Disease Overview: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and "atypical multiple myeloma."

Diagnosis: Tissue biopsy stained with Congo red demonstrating amyloid deposits with apple-green birefringence is required for diagnosis. Read More

Leukemia 2018 Sep 23;32(9):1883-1898. Epub 2018 Jul 23.

Department of Clinical Therapeutics, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.

The introduction of novel agents in the management of multiple myeloma and related plasma cell dyscrasias has changed our treatment approaches and subsequently the outcome of patients. Due to current advances, the European Myeloma Network updated the diagnostic and therapeutic recommendations for patients with Waldenström's macroglobulinemia (WM), AL-amyloidosis, monoclonal immunoglobulin deposition disease (MIDD), POEMS syndrome, and primary plasma cell leukemia. For patients with WM, the combination of rituximab with chemotherapy remains the treatment cornerstone, while the Bruton-tyrosine kinase inhibitor ibrutinib has been introduced and approved for relapsed/refractory disease. Read More

Case Rep Gastroenterol 2018 May-Aug;12(2):317-321. Epub 2018 Jun 22.

Department of Gastroenterology, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Systemic amyloidosis is a group of complex disorders characterized by the extracellular deposition of nonbranching fibrils in various tissues, ultimately leading to a variety of clinical presentations including isolated or multiorgan dysfunction. Amyloid involvement of the gastrointestinal tract is common depending on the subtype of this disease; light chain primary amyloidosis (AL) and secondary amyloidosis (AA) affect the gastrointestinal tract in unique ways due to differing pathophysiology. A case is reported of gastroparesis associated with AL amyloidosis diagnosed by esophagogastroduodenoscopy and study of gastric emptying, then subsequently confirmed by Congo red staining performed on endoscopic biopsies. Read More

BMJ Case Rep 2018 Jul 10;2018. Epub 2018 Jul 10.

Gastroenterology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.

Amyloidosis a rare disorder characterised by the deposition of amyloid protein aggregates in different organ systems throughout the body with resulting functional impairment of affected organs. It can present with localised or multisystemic deposits. Diagnosis is often delayed due to the non-specific nature of the symptoms. Read More

Medicine (Baltimore) 2018 Jun;97(26):e11153

Department of Rheumatology.

Rationale: Behçet disease (BD) is an inflammatory disorder characterized by recurrent oral aphthous ulcers, genital ulcers, ocular lesions, and skin lesions. Complication of amyloidosis in patients with BD is rare. Here, we report a case of BD with immunoglobulin light chain (AL)-amyloidosis manifested as hematochezia. Read More

Lab Invest 2019 Mar 26;99(3):319-330. Epub 2018 Jun 26.

Neurovascular Surgery Program, Section of Neurosurgery, The University of Chicago Medicine and Biological Sciences, Chicago, IL, USA.

Cerebral cavernous malformations (CCMs) are clusters of dilated capillaries that affect around 0.5% of the population. CCMs exist in two forms, sporadic and familial. Read More