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1.
Ter Arkh ; 92(7): 85-89, 2020 Sep 01.
Artículo en Ruso | MEDLINE | ID: mdl-33346449

RESUMEN

Our case demonstrates severe bone disease in primary AL-amyloidosis without concomitant multiple myeloma. A 30-year-old man had spontaneous vertebral fracture Th8. A computed tomography scan suggested multiple foci of lesions in all the bones. In bone marrow and resected rib werent detected any tumor cells. After 15 years from the beginning of the disease, nephrotic syndrome developed. Based on the kidney biopsy, AL-amyloidosis was confirmed. Amyloid was also detected in the bowel and bone marrow. On the indirect signs (thickening of the interventricular septum 16 mm and increased NT-proBNP 2200 pg/ml), a cardial involvement was confirmed. In the bone marrow (from three sites) was found 2.85% clonal plasma cells with immunophenotype СD138+, СD38dim, СD19-, СD117+, СD81-, СD27-, СD56-. FISH method revealed polysomy 5,9,15 in 3% of the nuclei. Serum free light chain Kappa 575 mg/l (/44.9) was detected. Multiple foci of destruction with increased metabolic activity (SUVmax 3.6) were visualized on PET-CT, and an surgical intervention biopsy was performed from two foci. The number of plasma cells from the destruction foci was 2.5%, and massive amyloid deposition was detected. On CT scan foci of lesions differed from bone lesions at multiple myeloma. Bone fragments of point and linear type (button sequestration) were visualized in most of the destruction foci. The content of the lesion was low density. There was no extraossal spread from large zones of destruction. There was also spontaneous scarring of the some lesions (without therapy). Thus, the diagnosis of multiple myeloma was excluded on the basis based on x-ray signs, of the duration of osteodestructive syndrome (15 years), the absence of plasma infiltration in the bone marrow, including from foci of bone destruction by open biopsy. This observation proves the possibility of damage to the skeleton due to amyloid deposition and justifies the need to include AL-amyloidosis in the spectrum of differential diagnosis of diseases that occur with osteodestructive syndrome.


Asunto(s)
Amiloidosis , Enfermedades Óseas , Mieloma Múltiple , Adulto , Amiloidosis/diagnóstico , Enfermedades Óseas/diagnóstico , Enfermedades Óseas/etiología , Humanos , Cadenas Ligeras de Inmunoglobulina , Masculino , Mieloma Múltiple/complicaciones , Mieloma Múltiple/diagnóstico , Tomografía Computarizada por Tomografía de Emisión de Positrones
2.
Zhonghua Yi Xue Za Zhi ; 100(43): 3431-3436, 2020 Nov 24.
Artículo en Chino | MEDLINE | ID: mdl-33238674

RESUMEN

Objective: To investigate the characteristics of left ventricular longitudinal strain (LS) in myocardial amyloidosis (CA), hypertrophic cardiomyopathy (HCM) and Fabry disease (FD), as well as the correlation between left ventricular LS and these diseases. Methods: A total of 14 CA patients, 28 HCM patients and 5 FD patients who visited the Department of Cardiology of the First Affiliated Hospital of Suzhou University from June 2017 to November 2019 were retrospectively included. EchoPAC software was used to analyze left ventricular LS, and univariate logistic regression analysis was used to analyze the correlation between echocardiographic LS indexes and various myocardial hypertrophy diseases. The receiver operating characteristic (ROC) curve was used to assess the sensitivity and specificity of echocardiograph LS indexes in the diagnosis of various myocardial hypertrophy diseases. Results: There were significant differences in LS of left ventricular basal segment, inferior wall, posterior wall, lateral wall and posterior septum among the three groups (P<0.05). The absolute value of LS in the left ventricular basal segment decreased in the CA group; the absolute value of LS in left ventricular posterior wall and lateral wall decreased significantly in the FD group (P<0.05); the absolute values of LS in left ventricular basal segment, inferior wall, posterior septum, lateral wall and posterior wall increased significantly in the HCM group (P<0.05). The absolute value of LS < 7.9% in the left ventricular basal segment, or > 13.2% in the inferior wall and > 9.2% in the basal segment, or < 8.3% in the lateral wall and < 7.9% in the posterior wall were the indicators of high sensitivity and specificity in the diagnosis of CA, HCM and FD, respectively. Conclusions: Left ventricular LS was an important index to differentiate myocardial hypertrophy. Combined with their respective clinical characteristics, it could provide certain reference value for clinical practice.


Asunto(s)
Amiloidosis , Cardiomiopatía Hipertrófica , Amiloidosis/diagnóstico , Cardiomiopatía Hipertrófica/diagnóstico por imagen , Diagnóstico Diferencial , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Reproducibilidad de los Resultados , Estudios Retrospectivos
4.
Amyloid ; 27(4): 217-222, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33100054

RESUMEN

The ISA Nomenclature Committee met electronically before and directly after the XVII ISA International Symposium on Amyloidosis, which, unfortunately, had to be virtual in September 2020 due to the ongoing COVID-19 pandemic instead of a planned meeting in Tarragona in March. In addition to confirmation of basic nomenclature, several additional concepts were discussed, which are used in scientific amyloid literature. Among such concepts are cytotoxic oligomers, protofibrils, primary and secondary nucleation, seeding and cross-seeding, amyloid signature proteins, and amyloid plaques. Recommendations for their use are given. Definitions of amyloid and amyloidosis are confirmed. Possible novel human amyloid fibril proteins, appearing as 'classical' in vivo amyloid, were discussed. It was decided to include fibulin-like extracellular matrix protein 1 (amyloid protein: AEFEMP1), which appears as localised amyloid in portal veins. There are several possible amyloid proteins under investigation, and these are included in a new Table.


Asunto(s)
Amiloide/clasificación , Proteínas Amiloidogénicas/clasificación , Amiloidosis/clasificación , Terminología como Asunto , Amiloide/genética , Amiloide/metabolismo , Proteínas Amiloidogénicas/genética , Proteínas Amiloidogénicas/metabolismo , Amiloidosis/diagnóstico , Amiloidosis/genética , Amiloidosis/patología , Congresos como Asunto , Infecciones por Coronavirus , Educación a Distancia/organización & administración , Expresión Génica , Humanos , Pandemias , Neumonía Viral
6.
Medicine (Baltimore) ; 99(43): e22942, 2020 Oct 23.
Artículo en Inglés | MEDLINE | ID: mdl-33120855

RESUMEN

RATIONALE: Tracheobronchial amyloidosis (TBA) associated with Sjögren syndrome is very rare. Here, we describe a case with this phenomenon, in order to better understand the condition. PATIENT CONCERNS: A 52-year-old woman presented after 6 months of coughing, sputum, and dyspnea. Chest computed tomography revealed thickened bronchial walls, which were irregular on the left side the trachea. She had a history of dry eye and dry mouth of at least 3 years' duration. DIAGNOSES: Sjögren syndrome was diagnosed based on her symptoms, ophthalmological and parotid examination, and immunological and autoantibody tests. The diagnosis of TBA was confirmed by Congo red staining of a tracheal biopsy. INTERVENTIONS: The patient was given glucocorticoids without any other immunosuppressants. OUTCOMES: The symptoms improved after 6 months. LESSONS: TBA associated with Sjögren syndrome is a rare condition. TBA is characterized by amyloid deposition to the trachea in the absence of systemic amyloidosis. Diagnosis requires tissue biopsy with demonstration of amyloid deposition.


Asunto(s)
Amiloidosis/etiología , Enfermedades Bronquiales/patología , Síndrome de Sjögren/complicaciones , Enfermedades de la Tráquea/patología , Amiloidosis/diagnóstico , Biopsia , Broncoscopía/métodos , Tos/diagnóstico , Tos/etiología , Disnea/diagnóstico , Disnea/etiología , Femenino , Glucocorticoides/uso terapéutico , Humanos , Persona de Mediana Edad , Síndrome de Sjögren/diagnóstico , Síndrome de Sjögren/tratamiento farmacológico , Esputo , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento
7.
Arch Pathol Lab Med ; 144(10): 1162-1163, 2020 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-33002155
9.
Radiol Med ; 125(11): 1072-1086, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32970272

RESUMEN

The restrictive cardiomyopathies constitute a heterogeneous group of myocardial diseases with a different pathogenesis and overlapping clinical presentations. Diagnosing them frequently poses a challenge. Echocardiography, electrocardiograms and laboratory tests may show non-specific changes. In this context, cardiac magnetic resonance (CMR) may play a crucial role in defining the diagnosis and guiding treatments, by offering a robust myocardial characterization based on the inherent magnetic properties of abnormal tissues, thus limiting the use of endomyocardial biopsy. In this review article, we explore the role of CMR in the assessment of a wide range of myocardial diseases causing restrictive patterns, from iron overload to cardiac amyloidosis, endomyocardial fibrosis or radiation-induced heart disease. Here, we emphasize the incremental value of novel relaxometric techniques such as T1 and T2 mapping, which may recognize different storage diseases based on the intrinsic magnetic properties of the accumulating metabolites, with or without the use of gadolinium-based contrast agents. We illustrate the importance of these CMR techniques and their great support when contrast media administration is contraindicated. Finally, we describe the useful role of cardiac computed tomography for diagnosis and management of restrictive cardiomyopathies when CMR is contraindicated.


Asunto(s)
Técnicas de Imagen Cardíaca/métodos , Cardiomiopatía Restrictiva/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Adulto , Anciano de 80 o más Años , Amiloidosis/diagnóstico por imagen , Cardiomiopatías/diagnóstico por imagen , Cardiomiopatía Restrictiva/clasificación , Fibrosis Endomiocárdica/diagnóstico por imagen , Femenino , Humanos , Sobrecarga de Hierro/diagnóstico por imagen , Enfermedades por Almacenamiento Lisosomal/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Traumatismos por Radiación/complicaciones , Traumatismos por Radiación/diagnóstico por imagen , Sarcoidosis/diagnóstico por imagen
10.
11.
Rev Prat ; 70(2): 152-155, 2020 Feb.
Artículo en Francés | MEDLINE | ID: mdl-32877125

RESUMEN

Alzheimer's disease: a biological disorder? Alzheimer's disease often begins clinically with memory problems progressively followed by aphasia, apraxia, agnosia and behavioral disturbances. Recent studies of biological markers of cerebrospinal fluid or amyloid and tau PET imaging have shown that abnormalities can begin one to two decades before the onset of symptoms. This clinically silent phase is a biological phase where neurons fight the toxic effects of amyloid and tau accumulations as well as neuroinflammation. An ATN biological classification has been proposed (A: amyloid, T tau, N: neurodegeneration). The discovery of blood or other biomarkers should allow detection of this silent phase leading to the setup of therapeutic trials when brain lesions are minimal and neurons less affected, to be able to prevent the late cognitive decline of this disease.


Asunto(s)
Enfermedad de Alzheimer , Amiloidosis , Disfunción Cognitiva , Péptidos beta-Amiloides , Biomarcadores , Humanos , Tomografía de Emisión de Positrones , Proteínas tau
14.
Transplantation ; 104(8): 1703-1711, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32732850

RESUMEN

BACKGROUND: There are limited data on the outcome of transplant recipients with familial Mediterranean fever (FMF)-associated AA amyloidosis. The aim of the present study is to evaluate demographic, clinical, laboratory, and prognostic characteristics and outcome measures of these patients. METHODS: Eighty-one renal transplant recipients with FMF-associated AA amyloidosis (group 1) and propensity score-matched transplant recipients (group 2, n = 81) with nonamyloidosis etiologies were evaluated in this retrospective, multicenter study. Recurrence of AA amyloidosis was diagnosed in 21 patients (group 1a), and their features were compared with 21 propensity score-matched recipients with FMF amyloidosis with no laboratory signs of recurrence (group 1b). RESULTS: The risk of overall allograft loss was higher in group 1 compared with group 2 (25 [30.9%] versus 12 [14.8%]; P = 0.015 [hazard ratio, 2.083; 95% confidence interval, 1.126-3.856]). Patients in group 1 were characterized by an increased risk of mortality compared with group 2 (11 [13.6%] versus 0%; P = 0.001 [hazard ratio, 1.136; 95% confidence interval, 1.058-1.207]). Kaplan-Meier analysis revealed that 5- and 10-year patient survival rates in group 1 (92.5% and 70.4%) were significantly lower than in group 2 (100% and 100%; P = 0.026 and P = 0.023, respectively). Although not reaching significance, overall, 5- and 10-year graft survival rates (57.1%, 94.7%, and 53.8%, respectively) in group 1a were worse than in group 1b (76.2%, 95%, and 77.8%, respectively; P = 0.19, P = 0.95, and P = 0.27, respectively). CONCLUSIONS: AA amyloidosis is associated with higher risk of mortality after kidney transplantation. Inflammatory indicators should be monitored closely, and persistent high levels of acute-phase reactants should raise concerns about amyloid recurrence in allograft.


Asunto(s)
Amiloidosis/cirugía , Fiebre Mediterránea Familiar/complicaciones , Rechazo de Injerto/mortalidad , Fallo Renal Crónico/cirugía , Trasplante de Riñón/efectos adversos , Adulto , Aloinjertos/inmunología , Aloinjertos/patología , Amiloidosis/inmunología , Amiloidosis/mortalidad , Amiloidosis/patología , Biopsia , Fiebre Mediterránea Familiar/inmunología , Fiebre Mediterránea Familiar/mortalidad , Fiebre Mediterránea Familiar/cirugía , Femenino , Estudios de Seguimiento , Rechazo de Injerto/inmunología , Rechazo de Injerto/patología , Supervivencia de Injerto/inmunología , Humanos , Estimación de Kaplan-Meier , Riñón/inmunología , Riñón/patología , Fallo Renal Crónico/inmunología , Fallo Renal Crónico/mortalidad , Fallo Renal Crónico/patología , Masculino , Persona de Mediana Edad , Recurrencia , Estudios Retrospectivos , Proteína Amiloide A Sérica/inmunología , Proteína Amiloide A Sérica/metabolismo , Tasa de Supervivencia , Resultado del Tratamiento , Adulto Joven
16.
J Prosthodont ; 29(8): 725-729, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32794594

RESUMEN

Amyloidosis of the tongue can result in significant and irreversible alterations of tooth position and function due to prolonged application of imbalanced force on the teeth by the enlarged tongue. Due to the rarity of this oral form of systemic disease, little has been elucidated on management of the resulting impaired oral function. While surgery can address the size of the tongue, it carries significant morbidities, enlargement can recur, and does not address adverse tooth positioning. Prosthetic rehabilitation can more aptly restore oral function but it also needs to be tailored based on the patient's expectations and goals as well as biologic and mechanical parameters of treatment. This report discusses an effective and noninvasive application of a tooth-supported, removable prosthesis with an onlay occlusal design to restore occlusion, speech, and esthetics in a patient with tongue-based amyloidosis.


Asunto(s)
Amiloidosis , Estética Dental , Enfermedades de la Lengua , Amiloidosis/complicaciones , Oclusión Dental , Humanos , Lengua/cirugía
17.
Clin Nucl Med ; 45(10): 838-839, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32796236

RESUMEN

Amyloid deposition can lead to Alzheimer disease and cerebral amyloid angiopathy. Rarely, it presents as a solitary focal deposition, primary cerebral amyloidoma, which can be misinterpreted as a neoplasm because of the "tumor-like" appearances. We present the case of a 54-year-old woman where MRI revealed a T2-hyperintense mass periventricular in the white matter with moderate contrast enhancement. Pathological investigation revealed AL (lambda) amyloidoma. F-florbetapir PET/CT was used to support the diagnosis and in follow-up. This case highlights that F-florbetapir PET/CT might play a role in the diagnostic workup of patients suggestive of cerebral amyloidoma, especially in cases where biopsy is not feasible.


Asunto(s)
Amiloidosis/diagnóstico por imagen , Compuestos de Anilina , Glicoles de Etileno , Tomografía Computarizada por Tomografía de Emisión de Positrones , Anciano , Amiloidosis/patología , Biopsia , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología
19.
Z Rheumatol ; 79(7): 660-668, 2020 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-32767072

RESUMEN

BACKGROUND: In patients with chronic inflammatory rheumatic diseases various types of amyloidosis diseases can occur. If amyloidosis is suspected a differentiation between local and systemic amyloid deposits needs to be made as well as between AL, AA and other forms of amyloidosis. OBJECTIVE: The aim is the characterization of local and systemic AL amyloidosis in rheumatic diseases, demonstration of diagnostic algorithms and prognostic factors as well as a discussion of the treatment options. MATERIAL AND METHODS: The cohort of patients with amyloidosis at the amyloidosis center in Heidelberg is presented and compared to other amyloidosis cohorts as well as a discussion of the treatment options. RESULTS: A monoclonal gammopathy can be observed in many patients with various rheumatic diseases. In patients with Sjogren's syndrome nodular cutaneous deposits of local AL amyloid can be observed; however, the occurrence of systemic AL amyloidosis has so far been reported only in a few isolated cases of patients with rheumatic diseases. CONCLUSION: In patients with rheumatic diseases, the development of a mostly local AL amyloidosis must also be considered in addition to AA amyloidosis. An early diagnosis is crucial to prevent further deterioration of organ function in patients with clinical indications of a systemic amyloidosis. The differentiation between AA and AL amyloidosis is essential in order to initiate a targeted treatment.


Asunto(s)
Amiloidosis , Gammopatía Monoclonal de Relevancia Indeterminada , Paraproteinemias , Amiloide , Amiloidosis/diagnóstico , Amiloidosis/terapia , Humanos , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas
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