Search results for "Inclusion"

A mutation in myotilin causes spheroid body myopathy

2005

Background: Spheroid body myopathy (SBM) is a rare, autosomal dominant, neuromuscular disorder, which has only been previously reported in a single large kindred. Identification of the mutated gene in this disorder may provide insight regarding abnormal neuromuscular function. Methods: The authors completed a detailed clinical evaluation on an extensive kindred diagnosed with SBM. Genome-wide linkage analysis was performed to localize the disease gene to a specific chromosomal region. Further marker genotyping and screening of a positional, functional candidate gene were completed to detect the disease-causing mutation. Pathologic analysis of muscle biopsy was performed on three individuals…

Congenital cytoplasmic body myopathy: case report.

1997

Do affective episodes modulate moral judgment in individuals with bipolar disorder?

2018

Abstract Background Bipolar disorder (BD) patients experience altered emotional states and deficits in social adaptation that may also be involved in deontological moral judgments in which participants have to choose whether to sacrifice one person in order to save the lives of a greater number. Methods In the present study we compared the utilitarian responses of BD patients in their different states (euthymia, mania, depression) and healthy controls to moral dilemmas with low (impersonal dilemma) and high (personal dilemma) emotional saliency. Results Our findings revealed an increased tendency to utilitarian judgments in the three groups of BD patients in impersonal dilemmas relative to …

Alzheimer's disease: amyloid plaques in the cerebellum

1989

Two specific silver-staining methods demonstrating either extracellular amyloid and/or precursors of amyloid or intraneuronal neurofibrillary changes were used to examine cerebellar pathology in cases of presenile and senile dementia of the Alzheimer type, cases of Down's syndrome, and non-demented controls. The sensitivity of the techniques permitted visualization of large numbers of amyloid deposits in the cerebellar cortex of demented individuals. Similarly large numbers of amyloid deposits were not found in the cerebella of non-demented individuals. Neurofibrillary changes were absent. The majority of amyloid plaques occurred in the molecular layer. Quite a number of these displayed lar…

The cell-specific expression of metalloproteinase-disintegrins (ADAMs) in inflammatory myopathies

2007

Inflammatory cell invasion and cytokine activation are important steps in the pathogenesis of immune-mediated diseases of muscle. Metalloproteinase-disintegrins (ADAMs) are considered to play a critical role in leukocyte migration by promoting cellular adhesion, cleavage of molecules of the extracellular matrix and shedding of membrane bound cytokines. Here, we report the expression patterns of ADAM8, ADAM9, ADAM10, ADAM12, ADAM17 and ADAM19 in cultured human myoblasts and peripheral blood mononuclear cells (PBMCs) in vitro, as well as in biopsies from patients suffering from polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM) and non-inflammatory controls. We observed an…

Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Syndrome: A Mixed Congenital Myopathy

2001

At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had d…

The latent nature of prolonged grief - A taxometric analysis: Results from a representative population sample

2017

Individuals suffering from prolonged grief disorder (PGD) show severe grief reactions after the death of a significant other, even beyond a period of grieving that is within a person's cultural and religious context. In addition to this core element, PGD can manifest in various ways. Symptoms may include persistent preoccupation, intense emotional pain, or impairment in important life domains. The symptoms, furthermore, have to be of culturally or religiously inappropriate extent or severity, taking into account different norms of grieving. PGD is discussed as a distinct diagnostic category in the revision of the International Classification of Diseases (ICD-11). Nosology of PGD has been hi…

Immune-mediated necrotizing myopathy is characterized by a specific Th1-M1 polarized immune profile.

2012

Immune-mediated necrotizing myopathy (IMNM) is considered one of the idiopathic inflammatory myopathies, comprising dermatomyositis, polymyositis, and inclusion body myositis. The heterogeneous group of necrotizing myopathies shows a varying amount of necrotic muscle fibers, myophagocytosis, and a sparse inflammatory infiltrate. The underlying immune response in necrotizing myopathy has not yet been addressed in detail. Affected muscle tissue, obtained from 16 patients with IMNM, was analyzed compared with eight non-IMNM (nIMNM) tissues. Inflammatory cells were characterized by IHC, and immune mediators were assessed by quantitative real-time PCR. We demonstrate that immune- and non–immune-…

Impact of a primary-based telemonitoring programme in HRQOL, satisfaction and usefulness in a sample of older adults with chronic diseases in Valenci…

2015

Abstract Background Chronic patients are frequent users of healthcare services and are prone to hospital admissions. In Valencia (Spain) the Valcronic programme aims to manage chronic patients through different levels of telemonitoring and telecare. This paper examines the impact of the Valcronic programme on self-perceived HRQOL in a one-year period and on perceptions of satisfaction and usefulness in a sample of older adults with chronic diseases. Methods The sample ( n  = 74) was randomly selected from Valcronic users and was stratified considering different variables. HRQOL was assessed using the EQ-5D questionnaire at two points in time: before the beginning of the Valcronic programme …

Atraumatic maxillary sinus elevation using threaded bone dilators for immediate implants. A three-year clinical study.

2008

Objective: The aim of this study was to evaluate the efficacy of sinus floor elevation using sequential bone dilators. Materials and Methods: Thirty patients took part in the study (18 women and 12 men) with ages ranging between thirty-six and sixty-three years, selected according to inclusion and exclusion criteria, who showed a bone deficit in the upper posterior alveolar margin of 5-8 mm in height. Sixty expanded platform internal connection implants were placed with diameters of 4/5/4 mm and lengths varying between 10 (n=10) and 11.5 mm (n= 50). Results: Data obtained were analyzed using SPSS 15.0 software. The average intra-sinus bone gain with MP3 biomaterial of porcine origin was 4.1…