Search results for "AMYLOIDOSIS"

Indication of a common origin of German and American Families with Familial Amyloidneuropathy Typ II

1999

Abstract The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 mutations of the transthyretin gene have been found to be responsible for different clinical forms of amyloidosis including familial FAP.FAP II is caused by a mutation on the codon 58 of the transthyretin gene. Only two american kindreds (the Maryland/German and the Ohio family) have previously been reported with FAP II starting in the 3rd or 4th decade by sensory disturbances of the hands typically as a carpal tunnel syndrome. We report on a german family with FAP II from the rhine river area south of Mainz. Four members with typical …

Multisystem Amyloidosis in a Coal Miner with Silicosis: Is Exposure to Silica Dust a Cause of Amyloid Deposition?

2022

The over-secretion of monoclonal immunoglobulin light chains by clonal B cells followed by the aggregation and extracellular deposition of fibrillar deposits are responsible forthe clinical course AL amyloidosis. It is well documented that silica significantly increases the number of immunoglobulin-secreting cells. In the present paper, we report on a coal miner with silicosis and fast progressing primary amyloidosis with predominantly heart, kidney, and lung manifestations. Severeheart failure due to myocardial hypertrophy resulted in the patient’s death. We conclude that long-term environmental silica exposure and silica deposition may contribute to the development of monoclonal gammopath…

Oxidative Stress, Chronic Inflammation, and Amyloidoses

2019

Amyloid P component--a special type of collagen?

1978

The localization of amyloid P-components is demonstrated by immunofluorescence microscopy in normal human tissue (kidney, spleen, liver). The relation to collagen and to amyloidosis is discussed.

CO(2)-laser treatment of laryngeal amyloidosis.

2003

Four consecutive female patients (age: 14–47 years) with laryngeal amyloidosis, treated with endoscopic CO2-laser surgery, entered the study. All patients underwent periodic microlaryngoscopies following surgery to confirm the adequacy of the surgical resection. Recurrences or suspected lesions were resected and fibrin deposits were removed to prevent the formation of synechiae or healing adhesions. After two negative microlaryngoscopies, performed two months apart, the patients were followed-up approximately every six months over a period from six months to 18 years, with no evidence of recurrences. The endoscopic CO2-laser technique is highly effective in the treatment of localized laryng…

Reduced firing rates of pyramidal cells in the frontal cortex of APP/PS1 can be restored by acute treatment with levetiracetam

2020

Contains fulltext : 229488.pdf (Publisher’s version ) (Open Access) Contains fulltext : 229488pre.pdf (Author’s version preprint ) (Open Access) In recent years, aberrant neural oscillations in various cortical areas have emerged as a common physiological hallmark across mouse models of amyloid pathology and patients with Alzheimer's disease. However, much less is known about the underlying effect of amyloid pathology on single cell activity. Here, we used high-density silicon probe recordings from frontal cortex area of 9-month-old APP/PS1 mice to show that local field potential power in the theta and beta band is increased in transgenic animals, whereas single-cell firing rates, specifica…

Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

2020

Objective. To analyze the potential role of colchicine monotherapy in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) in terms of control of clinical and laboratory manifestations. Methods. Patients with TRAPS treated with colchicine monotherapy were retrospectively enrolled; demographic, clinical and therapeutic data were collected and statistically analysed after having clustered patients according to different times at disease onset, penetrance of mutations, dosage of colchicine, and different disease manifestations. Results. 24 patients (14 males; 15 with pediatric disease onset) treated with colchicine monotherapy were enrolled. Colchicine resulted in …

Senile amyloidosis: Principles of localization in a heterogeneous form of amyloidosis

1983

In order to identify amyloid deposits in patients over 60 years of age (so-called senile amyloid), the following five tissues were investigated under the light and electron microscope : 1. pituitary gland, 2. pancreatic islets of Langerhans, 3. heart, 4. aorta, and 5. brain. In all an increasing incidence of amyloid deposits was found with increasing age, and in the brain a significant quantitative increase in amyloid deposits with increasing age was observed. Despite the biochemical heterogeneity of amyloid found in old age, all the deposits seen in tissues examined were morphologically similar. Typical amyloid fibrils were always found (diameter 60–100 A), and these were invariably deposi…

Detection of AA-type amyloid protein in labial salivary glands

2010

Objectives: Among the diverse forms of amyloidosis, secondary type is the most frequent one. Diagnosis of amyloid deposition is based on the identification of the fibrillary protein amyloid by means of Congo Red (CR) or crystal violet (CV) stains, but these techniques do not differentiate between the different types of amyloid fibrils. The aim of this study was to identify by immunofluorescence (IF) AA amyloid a pathological fibrillar low-molecularweight protein formed by cleavage of serum amyloid A (SAA) protein in labial salivary gland (LSG) biopsies from patients with secondary amyloidosis. Study design: 98 LSG were studied, 65 were from patients with secondary amyloidosis and 33 from su…

A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy

1997

1. IntroductionMore than 50 mutations of the transthyretin (TTR) [1]molecule resulting in different clinical forms of amyloidosisincluding familial amyloid polyneuropathy (FAP) havebeen reported to date. Within this FAP spectrum severaltransthyretin mutations are more frequent, others are rare.One mutation, the codon 58 histidine for leucine has pre-viously been recorded only in American subjects (Mary-land/German type), originally reported in a large kinship[2,3] and in another family from Ohio [4]. In the originaldescription of the Maryland/German type of amyloidosis[2], it was stated that the early immigrants in this pedigreewere from the Rhine river area, "nearly all of them from thelef…