Search results for "progre"
showing 10 items of 1746 documents
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
2000
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A and C, to be implicated in the autosomal dominant form of EDMD. Here, we report on the variability of the phenotype and spectrum of LMNA mutations in 53 autosomal dominant EDMD patients (36 members of 6 families and 17 sporadic cases). Twelve of the 53 patients showed cardiac involvement exclusively, although the remaining 41 all showed muscle weakness and contractures. We were able to identify …
Profile of the Immune and Inflammatory Response in Individuals With Prediabetes and Type 2 Diabetes.
2015
OBJECTIVE The inflammatory and immune systems are altered in type 2 diabetes. Here, the aim was to profile the immune and inflammatory response in subjects with prediabetes and diabetes in a large population-representative sample. RESEARCH DESIGN AND METHODS In total, 15,010 individuals were analyzed from the population-based Gutenberg Health Study. Glucose status was classified according to HbA1c concentration and history of diagnosis. All samples were analyzed for white blood cells (WBCs), granulocytes, lymphocytes, monocytes, platelets, C-reactive protein (CRP), albumin, fibrinogen, and hematocrit. Interleukin-18 (IL-18), IL-1 receptor antagonist (IL-1RA), and neopterin concentrations w…
Spinal ependymoma in adults: a multicenter investigation of surgical outcome and progression-free survival
2018
OBJECTIVESpinal ependymomas are rare glial neoplasms. Because their incidence is low, only a few larger studies have investigated this condition. There are no clear data concerning prognosis and therapy. The aim of the study was to describe the natural history, perioperative clinical course, and local tumor control of adult patients with spinal ependymomas who were surgically treated under modern treatment standards.METHODSThe authors performed a multicenter retrospective study. They identified 158 adult patients with spinal ependymomas who had received surgical treatment between January 2006 and June 2013. The authors analyzed the clinical and histological aspects of these cases to identif…
Subjective neurocognition and quality of life in patients with bipolar disorder and siblings.
2018
Abstract Background Bipolar disorder (BD) is associated with significant neurocognitive and functional impairment, which may progress across stages. However, the potential progression of subjective cognitive complaints and quality of life (QoL) has not been addressed. Our main objective was to assess subjective cognitive complaints and QoL on euthymic patients with BD and their healthy siblings. Methods Four groups were compared: euthymic patients with type I BD in the early (n = 25) and late (n = 23) stages, their healthy siblings (latent stage; n = 23) and healthy controls (n = 21). Cognitive complaints and QoL were assessed using the COBRA and WHO-QoLBREF questionnaires, respectively. Re…
Further evidence of genetic heterogeneity in familial essential tremor.
2007
Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease. (C) 2007 Elsevier Ltd. All rights reserv…
Long-Term Determinants of Muscle Strength Decline: Prospective Evidence from the 22-Year Mini-Finland Follow-Up Survey
2012
Objectives: To examine long-term changes in handgrip strength and the factors predicting handgrip strength decline. Design: Longitudinal cohort study with 22 years of follow-up. Setting: Population-based Mini-Finland Health Examination Survey in Finland. Participants: Nine hundred sixty-three men and women aged 30 to 73 at baseline. Measurements: Handgrip strength was measured using a handheld dynamometer at baseline and follow-up. Information on potential risk factors, namely lifestyle and chronic conditions, and their changes throughout the follow-up were based on health interviews. Results: Based on linear mixed-effect models, midlife physically strenuous work, excess body weight, smokin…
Sequential transcriptome analysis of human liver cancer indicates late stage acquisition of malignant traits
2014
Background & Aims Human hepatocarcinogenesis is as a multi-step process starting from dysplastic lesions to early carcinomas (eHCC) that ultimately progress to HCC (pHCC). However, the sequential molecular alterations driving malignant transformation of the pre-neoplastic lesions are not clearly defined. This lack of information represents a major challenge in the clinical management of patients at risk. Methods We applied next-generation transcriptome sequencing to tumor-free surrounding liver (n=7), low- (n=4) and high-grade (n=9) dysplastic lesions, eHCC (n=5) and pHCC (n=3) from 8 HCC patients with hepatitis B infection. Integrative analyses of genetic and transcriptomic changes were pe…
Adrenal morphology and function in acromegalic patients in relation to disease activity.
2009
Visceromegaly is a common consequence of acromegaly. However, few studies investigated the chronic effects of growth hormone on adrenal glands. Our aim was to evaluate adrenal morphology and function in a cohort of acromegalic patients in relation to disease activity. Twenty-six acromegalics (10 males and 16 females) and 21 healthy subjects were investigated. Gland morphology was evaluated by computerized axial tomography, measuring central, lateral, and medial adrenal segments. Uncontrolled acromegalics showed increased volume of all adrenal segments, higher urinary free cortisol (UFC), and lower morning adrenocorticotropic hormone in comparison with healthy subjects. However, normal corti…
Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy
2007
Objective To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. Methods Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with α-L-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. Results Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratopl…
Glut-1 Expression and In Situ CD1a/CD57 Immunologic Deficit in Keratoacanthoma and Squamous Cell Carcinoma of Immunocompetent Patients
2011
It is not easy to reach a differential diagnosis between keratoacanthoma (KA) and squamous cell carcinoma (SCC) and furthermore there is still considerable discussion about the relationship of these 2 tumors with immunity. To facilitate such a diagnosis, we assessed the Glut-1 antibody, reported to be strongly and diffusely expressed in SCC but never assessed in KA. We studied 43 lesions of immunocompetent patients: 17 SCCs, 13 typical KAs (tKAs), and 13 atypical KAs (aKAs), with histologic features of SCC in less than 30% of the lesions. In tKA, Glut-1 stained only the basal layers of the squamous nests (basal pattern) whereas in SCC the squamous nests were randomly and diffusely stained (…