Search results for "connective tissue disease"
showing 10 items of 874 documents
Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany.
2003
This study was undertaken to investigate the prevalence of BRCA1 and BRCA2 germline mutations in 91 German patients unselected for family history, who were diagnosed with breast cancer before the age of 41 years. Clinical information and blood samples were obtained from all patients. A comprehensive BRCA1 and BRCA2 mutational analysis was performed using the protein truncation assay and single-strand conformational polymorphism analysis followed by DNA sequencing of variant signals detected by these assays. Five different deleterious germline mutations including four frameshift mutations and one missense mutation were identified, three in BRCA1 (3.3%) and two mutations (2.2%) in BRCA2. Both…
Increased DHEAs levels in PCO syndrome: evidence for the existence of two subgroups of patients
1986
In 49 patients affected by PCO syndrome the serum levels of dehydroepiandroster-one-sulphate (DHEAs) were determined and correlated with the cfinical presentation and the endocrine pattern. Twenty-three patients (47%) had high DHEAs levels (h-DHEAs patients). They presented a milder clinical presentation (low incidence of amenorrhea) than PCO patients with normal DHEAs levels (n-DHEAs patients). In h-DHEAs patients the finding of a normal DHEAs. response to ACTH and of slightly increased 17OHP serum levels suggested that the elevation of serum DHEAs was not due to an adrenal enzymatic deficiency but to a tonic hyperstimulation of the adrenals. Two subgroups of h-DHEAs patients were identifi…
Impairments, activity limitations and participation restrictions 6 and 12 months after breast cancer operation.
2005
OBJECTIVE: To describe the impairments of upper body and limbs, activity limitations and participation restrictions 6 and 12 months after operation for breast cancer and to examine the impact of impairments on activity limitations.\ud \ud DESIGN: A prospective survey 6 and 12 months after operation.\ud \ud PATIENTS: Ninety-six breast cancer patients.\ud \ud METHODS: A questionnaire for assessing the impairments, activity limitations and participation restrictions was developed.\ud \ud RESULTS: The most common impairments 6 months after operation were breast and axilla scar tightness, axilla oedema and neck-shoulder pain. At 12-month follow-up the breast scar tightness (p=0.008) and axilla o…
Prevalence and pattern of cognitive impairment in systemic lupus erythematosus patients with and without overt neuropsychiatric manifestations
2001
The prevalence and pattern of cognitive impairment in systemic lupus erythematosus (SLE) patients with (NPSLE) and without (nSLE) overt neuropsychiatric manifestations were investigated. Fifty-two nSLE patients, 23 NPSLE patients and 27 healthy controls were evaluated with a battery of standardized neuropsychological and psychological tests. Disease duration, disease activity index, and current corticosteroid therapy were collected. Cognitive impairment was identified in 14 (26.9%) and in 12 (52.2%) of subjects with nSLE and NPSLE, respectively. Both SLE groups showed a significant impairment compared with controls on tasks assessing verbal and non-verbal long-term memory, and visuoconstruc…
Acute Respiratory Distress Syndrome Caused by Pulmonary Nocardiosis in a Patient With Systemic Lupus Erythematosus
2005
Nocardia is a gram-positive bacillus that infects mainly immunodepressed patients. Its association with lupus erythematosus has been described only occasionally and we have found no reports in the literature of an association between lupus and acute respiratory distress syndrome due to pulmonary nocardiosis. We present such a case and discuss the mechanisms that make this lung infection so virulent as well as its epidemiological and microbiological characteristics, clinical presentation, diagnosis, and treatment.
Thymoma and pure red cell aplasia in a patient with systemic lupus erythematosus.
1995
We present the case of a female patient with a diagnosis of systemic lupus erythematosus (SLE) at the age of 54 years. At the age of 63 years, she suffered from malignant thymoma and 3 years after removal of the thymoma a diagnosis of pure red cell aplasia (PRCA) was established. This is, to our knowledge, the first report of the occurrence of SLE, thymoma and PRCA in the same patient. The case is discussed with regard to the already known associations between these diseases.
Coincidence of nonpuerperal mastitis and noninflammatory breast cancer.
2002
Abstract Background : Nonpuerperal mastitis may mimic breast cancer but the incidence of noninflammatory cancer among such patients is unknown. Aim : To estimate the risk of breast cancer in patients with nonpuerperal mastitis within 12 months of treatment. Study design : Two hundred seventy-seven patients with nonpuerperal breast inflammation were prospectively screened for breast cancer within 1 year after mastitis was diagnosed. The age-related standardized breast cancer incidence ratio of the female population was calculated. Results : Five women (35, 43, 47, 61, and 72 years, respectively) were identified as having noninflammatory breast cancer independently, and at a location distant …
Bilateral vertebral artery dissection, agenesis of both ICAs, and connective tissue aberrations
2013
A 35-year-old woman presented with acute signs of stroke (appendix e-1 on the Neurology® Web site at [www.neurology.org][1]). After initial CT with angiography, MRI with time-of-flight angiography confirmed agenesis of both internal carotid arteries (ICAs; figure 1A). It revealed bilateral vertebral artery (VA) dissections and ischemias in both middle artery territories (figure 1, A–E). Skin biopsy microscopy (figure 2) was consistent with ultrastructural connective tissue disease (uCTD), for which no further evidence was found apart from mild hypermobility of the finger joints. The underlying uCTD with structural instability of the arterial walls and the increased blood flow in the vertebr…
Hyaluronic acid and platelet-rich plasma, a new therapeutic alternative for scleroderma patients: a prospective open-label study
2019
Abstract Background Systemic sclerosis is a systemic connective tissue disease characterized by endothelium damage, fibrosis, and subsequent atrophy of the skin. Perioral fibrosis produces a characteristic microstomia together with microcheilia, both of which cause severe difficulties and affects patients’ daily life, such as eating and oral hygiene. Since there are no effective and specific therapies, we have aimed at evaluating the response to filler injections of hyaluronic acid together with platelet-rich plasma. Methods Ten female patients aged between 18 and 70 were included in this study. Each patient was treated with three filler injections of hyaluronic acid and platelet-rich plasm…
Editorial: Clinical Trials in Raynaud's Phenomenon: A Spoonful of Sugar (Pill) Makes the Medicine Go Down (in Flames)
2017
Objective To determine the effect of selexipag, an oral, selective IP prostacyclin receptor agonist, on the frequency of attacks of Raynaud's phenomenon (RP) in patients with systemic sclerosis (SSc). Methods Patients with SSc‐related RP were randomized 1:1 to placebo (n = 38) or selexipag (n = 36) in individualized doses (maximum of 1,600 μg twice daily) during a 3‐week titration period. The primary end point was the weekly average number of RP attacks during the study maintenance period, analyzed using a Bayesian approach with a negative binomial model adjusted for baseline number of RP attacks. Other outcome measures included Raynaud's Condition Score (RCS), RP attack duration, and treat…