Search results for "HM"
showing 10 items of 10594 documents
Self-reported health and cortisol awakening response in parents of people with asperger syndrome: the role of trait anger and anxiety, coping and bur…
2013
Caring for offspring with autism spectrum disorders entails high levels of stress for a long period of time and is associated with several types of health complaints. Few studies have focused on specific effects of particular disorders in the spectrum. This study was carried out with the aim of evaluating the global health of parents of people with Asperger syndrome (N = 53) compared to those of typically developing children (N = 54) through self-reported measures (medication consumption and somatic symptoms) and biological markers (cortisol awakening response [CAR]). Additionally, we analysed various psychological variables as potential predictors of caregiver health. We found that caregiv…
High-b-Value Diffusion-weighted MR Imaging of Benign Hepatocellular Lesions: Quantitative and Qualitative Analysis
2012
PURPOSE:To analyze the signal intensity (SI) of benign hepatocellular lesions in high-b-value diffusion-weighted (DW) magnetic resonance (MR) images and to compare the apparent diffusion coefficient (ADC) values of focal nodular hyperplasias (FNHs) with those of hepatocellular adenomas (HCAs). MATERIALS AND METHODS: This retrospective study was approved by institutional review board, with waiver of informed consent. Inclusion criteria were consecutive patients with diagnosed FNH or HCA who underwent MR imaging with a DW sequence of the liver at three b values, 0, 150, and 600 sec/mm2. The final study population included 67 patients (seven men, 60 women) with 90 hepatocellular lesions (54 FN…
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
2003
Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. In the past, the disorder was subdivided into the milder Ribbing type, usually with flattened epiphyses,1 and the more severe Fairbank type with round epiphyses,2 but many cases were not classifiable as clearly either type.3 MED can be caused by mutations in at least six separate genes: COMP ,4–7 collagen IX ( COL9A1 , COL9A2 , and COL9A3 ),8–13 matrilin 3 ( MATN3 ),15 and the sulphate transporter, DTDST ( DTDST/SLC26A2 ). We have previously repor…
Increased expression of IL-19 in the epithelium of patients with chronic rhinosinusitis and nasal polyps.
2012
Background : Chronic rhinosinusitis (CRS) is an inflammation of the nose and of the paranasal sinuses. The involvement of the respiratory epithelium in the mechanisms of CRS is poorly understood. Aims : Among proteins expressed by nasal epithelial cells in CRS, IL-19 may have key functions. We here aimed to determine the expression and regulation of IL-19. Methods : Nasal biopsies from normal subjects (n = 12), subjects with CRS but without nasal polyps (NP) (CRSsNP, n = 12) and with CRS with NP (CRSwNP, n = 15) were collected. Human Asthma Gene Array and real-time PCR were used to evaluate gene expression, western blot analysis and immunohistochemistry for protein expression. Results for I…
Low SPINK5 expression in chronic rhinosinusitis
2012
Objectives/Hypothesis: Chronic rhinosinusitis (CRS) is a multifactorial disease that probably arises as a result of genetic diversity and environmental factors. SPINK5 is a serine protease inhibitor, which is supposed to be an important regulator of epithelial barrier maintenance. The role of SPINK5 polymorphisms and expression in CRS, especially in individuals with aspirin intolerance, is unclear. Study Design: SPINK5 single-nucleotide polymorphisms (SNPs) and SPINK5 expression levels were correlated with CRS without (CRSsNP) and with nasal polyps (CRSwNP), aspirin intolerance, asthma, and allergies. Methods: One hundred four nasal tissue samples, 15 from patients with CRSsNP, 59 from pati…
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
2013
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All thr…
Evaluation of labial microvessels in Sjogren syndrome: A videocapillaroscopic study
2008
Summary Sjogren's syndrome (SS) is a chronic autoimmune rheumatic disease characterized by a progressive lymphocytic infiltration of exocrine glands, especially salivary and lachrymal ones, leading to xerostomia, parotid gland enlargement, and xerophtalmia. SS may occur alone (primary) or in association with almost any of the autoimmune rheumatic diseases (secondary), the most frequent being rheumatoid arthritis. The aim of this study is to describe the capillaroscopic pattern of the labial mucosa in patients with SS. Methods A total of 20 patients affected by SS and 20 healthy controls were examined. The patients with conditions that compromise microcirculation, such as diabetes, hypertens…
Improvement in quality of life with omalizumab in patients with severe allergic asthma.
2006
Patients with severe persistent asthma experience daily symptoms and frequent serious exacerbations that contribute to a significant impairment of health-related quality of life (QoL).A pooled analysis was completed of six controlled clinical trials that evaluated the effect of add-on omalizumab on asthma-related QoL in patients with severe persistent allergic (IgE-mediated) asthma. Asthma-related QoL was assessed at baseline and treatment endpoint using the well-validated Juniper Asthma Quality of Life Questionnaire (AQLQ). Change from baseline in AQLQ total score was compared between treatments using analysis of covariance methods. The percentage of patients who achieved a clinically mean…
Migraine history and migraine-induced stroke in the Dijon stroke registry.
1999
Two thousand three hundred and eighty-nine patients with first-ever stroke were registered in the population-based Dijon Stroke Registry over an 11-year period. There was a history of migraine in 49 cases (2%), with a majority of women (2.8% versus 1.1% men) with the following distribution: 27 cases among 1,380 large-artery cerebral infarctions (1.9%), 6 cases among 358 small-artery cerebral infarctions (1.6%), 6 cases among 412 cerebral infarctions due to cardiac embolism (1.4%), 7 cases among 191 cerebral hemorrhages (3.6%) and 3 cases among 47 subarachnoid hemorrhages (6.3%). The male/female ratio was 0.58 for the 49 strokes with a history of migraine versus 1.27 for the 2,340 strokes wi…
Agreement in Asthmatics' Perception of Dyspnea During Acute and Chronic Obstruction
2005
Objective Three types of asthmatic patients can be identified during periods of clinical stability: “poor perceivers,” “normal perceivers,” and “over perceivers.” When asthmatics undergo bronchial challenge in the laboratory, the same distinctions in type of perception can be observed. The aim of the present study was to determine the level of agreement between the 2 situations. Patients and methods A total of 93 patients with persistent moderate asthma (36 men and 57 women; mean age 40 years) were studied. We asked them to assess their dyspnea on a modified Borg scale when stable and after each histamine dose in a bronchial provocation test. When a patient's Borg scale assessment in stable…