1/27. Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease.We report a pair of monozygotic Huntington's disease (HD) twins who, although sharing identical CAG repeat lengths, not only present with marked differences in clinical symptoms but also behavioral abilities as measured by our experimental procedures. Both HD twins and two healthy control subjects were tested twice over 2 years. Patient A was generally more impaired at a motor level, whereas Patient B showed greater attentional impairment; Patient B, however, showed more progressive deterioration. The control subjects' performance remained consistent over the 2-year interval. Patient A clinically had the more hyperkinetic hypotonic variant of the disease, whereas Patient B, who was the more impaired, presented with a more hypokinetic hypertonic (rigid) variant. The influences of epigenetic pre- and postnatal environmental factors should not be ignored.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
2/27. Discordant evolution of asymptomatic proteinuria in identical twins.We describe a pair of 17-year-old identical twin brothers with asymptomatic proteinuria, one of whom showed focal segmental glomerulosclerosis (FSGS) while the other showed immunoglobulin m (IgM) nephropathy. For each twin, audiological examination was normal. There was no family history of renal failure, deafness, or hematuria. HLA typing revealed an identical phenotype consisting of A25, A33, B44, B54, Cw1, Cw7, DR7 and DRB1. There is still controversy about whether minimal change disease, IgM nephropathy, and FSGS are discrete entities or different aspects of the same disease. The coexistence of IgM nephropathy and FSGS in identical twins suggests that the same genetic factors may be involved in the development of both diseases. However, although the brothers are identical twins, they had different eating habits and body weight. The twin who preferred to eat a protein-rich diet and who was heavier developed early proteinuria and manifested FSGS on renal biopsy. The discordant evolution of asymptomatic proteinuria in identical twins may provide a clue for the existence of environmental factors on the progression from IgM nephropathy to FSGS. Therefore, this report provides indirect support for the hypothesis that IgM nephropathy and FSGS represent different aspects in the spectrum of a single disease.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
3/27. Familial occurrence of systemic vasculitis and rapidly progressive glomerulonephritis.Two familial clusters of systemic vasculitis are described. In one family, microscopic polyangiitis and rapidly progressive glomerulonephritis occurred in HLA-identical siblings; in the second family, 3 second- and fourth-degree related members were affected by Wegener's granulomatosis. Published clusters of systemic vasculitides and Goodpasture's syndrome are reviewed, and, together with the observed families, the evidence for genetic susceptibility and a causative role of environmental factors for these diseases with special emphasis on the HLA system is discussed.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
4/27. Cardiac allograft valvulopathy: a case of donor-anorexigen-induced valvular disease.We report on the transplantation of a cardiac allograft from a donor with prolonged exposure to anorexigens. This event allowed us to not only examine the early pathological alterations that characterize anorexigen-induced valvular damage, but to also study the posttransplantation outcome after the donor heart had been removed from the offending milieu. A donor history of anorexigen use should be sought, and if detected, careful evaluation for underlying valvular disease should be entertained. Early valvulopathy may appear clinically mild yet pathologically significant. Our single-case experience also suggests that anorexigen-induced valvulopathy may be a progressive disorder despite removal of the heart from the causative environment.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
5/27. Very late-onset friedreich ataxia despite large GAA triplet repeat expansions.BACKGROUND: Most patients with friedreich ataxia (FRDA) have abnormal GAA triplet repeat expansions in both X25 genes. The size of the GAA expansion in the shorter of the 2 expanded alleles correlates significantly with parameters of clinical severity and is inversely related to the age at onset. OBJECTIVES: To describe the clinical and molecular genetic findings in a patient with very late-onset FRDA and to review the literature. PATIENT AND methods: A 58-year-old white woman with mild progressive gait disturbance of 15 years' duration whose examination revealed mild incoordination was analyzed for mutations in the X25 gene. A combination of long-range polymerase chain reaction and genomic Southern blot analyses were used to identify GAA expansions in intron 1 of the X25 gene. To uncover evidence of somatic variability in triplet repeat length, dna isolated from several tissue samples was similarly analyzed. Single-strand conformational polymorphism analysis was used to screen for mutations spanning the entire coding sequence of frataxin and all intron-exon junctions of the X25 gene. RESULTS: dna isolated from blood leukocytes revealed GAA triplet repeat expansions in both X25 genes, which were estimated to contain 835 and 1200 repeats. Similar expansions were detected in dna isolated from lymphoblasts, fibroblasts, buccal cells, and sural nerve, with estimated mean ( /- SD) lengths of the shorter and longer expansions being 854 ( /-69) and 1283 ( /-72) triplets, respectively. A review of reported cases of late-onset friedreich ataxia (25-39 years) and very late-onset friedreich ataxia (> or =40 years) demonstrated that this is the first instance of a patient presenting with very late-onset FRDA despite carrying more than 800 GAA repeats in both expanded X25 alleles. CONCLUSIONS: This unique case of very late-onset FRDA highlights a limitation in our ability to accurately predict the phenotype in FRDA based solely on the size of the GAA expansion. Other genetic or environmental factors may significantly modify disease severity in FRDA.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
6/27. Two cases showing clonal progression with full evolution from aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome to myelodysplastic syndromes and leukemia.We report 2 paroxysmal nocturnal hemoglobinuria (PNH) patients who were initially diagnosed with aplastic anemia and sequentially developed PNH, myelodysplastic syndromes (MDS), and leukemia. flow cytometry and cytogenetic analysis showed the initial appearance and expansion of PNH clones, gradual replacement of PNH clones by MDS clones with monosomy 7, and then expansion of MDS clones or their subclones with additional chromosomal abnormalities. In relation to these developments, expression increased of the Wilms' tumor gene WT1, a marker for leukemic progression. These patients not only shared bone marrow failure but also might have harbored a hematopoietic environment favorable for the emergence of abnormal clones leading to leukemogenesis.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
7/27. role of increased environmental aspergillus exposure for patients with chronic obstructive pulmonary disease (COPD) treated with corticosteroids in an intensive care unit.We report about a 75-year-old woman and a 62-year-old man hospitalised for infection-related exacerbation of chronic obstructive pulmonary disease (COPD). In both patients, respiratory function worsened after initial stabilisation and the disease took a fatal course. A careful inspection of the intensive care unit (ICU) revealed several circumstances known to be risk factors for invasive aspergillosis (reconstruction activities near to the ICU, contamination of the window sills with pigeon droppings, moist building materials due to water leakage). The case reports suggest that both critically ill patients receiving high dose corticosteroid medication possibly have acquired aspergillosis on account of increased environmental exposure to aspergillus conidia (> 10(2) CFU/m3 air). However, due to the severity of the disease confirmation by invasive diagnostic procedures was not possible. The role of high dose corticosteroid treatment as a risk factor for invasive aspergillosis should be taken into consideration, and increased exposure to fungi consequently be reduced in health care environments, especially for patients at risk.- - - - - - - - - - ranking = 6keywords = environment (Clic here for more details about this article) |
8/27. Childhood discoid lupus erythematosus: report of five new cases and review of the literature.Discoid lupus erythematosus (DLE) is an uncommon disease in childhood. In this paper we present five new cases of childhood DLE. Two of them are identical twin brothers, who developed similar lesions during an interval of 5 years. This is in favour of the hypothesis that both genetic factors and somatic mutations, due to environmental factors, are implicated in the pathogenesis. A review of the English language literature is also presented. In order to have better epidemiological data on this disease, all cases of childhood DLE, including those published in non-English literature and those not yet published, should be placed together and analysed.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
9/27. Is the rupture of cerebral berry aneurysms influenced by the perianeurysmal environment?PURPOSE: To evaluate contact between cerebral berry aneurysms and the perianeurysmal environment and to study the influence this contact has on aneurysm rupture. MATERIALS AND methods: In a series of 76 consecutive patients, pre- and post-contrast CT images of 87 aneurysms were evaluated. aneurysm locations were identified and aneurysms were divided into two different groups depending on whether they had ruptured or not. Contact between aneurysms and the perianeurysmal environment was studied when present, and considered to be balanced or unbalanced according to symmetry of contact and type of contact interface, i.e. with bone, dura, etc. RESULTS: rupture occurred in 47 aneurysms at an average maximum dome size of 7.4 mm. There was contact with elements of the perianeurysmal environment in 38 (81%) of ruptured cases and no evidence of contact in 7 (15%). The nature of contact was unclear in 2 (4%) ruptured aneurysms. In the aneurysms with contact, the nature of contact was unbalanced in 34 (72%) and balanced in 4 (9%). Unbalanced aneurysms ruptured at significantly smaller sizes (average: 7.7 mm) than balanced aneurysms (average: 11.4 mm). Seven aneurysms of small size (3.3-6.9 mm, average: 4.8 mm) were found to have ruptured, despite the fact that they were too small to exhibit contact with the perianeurysmal environment. In 40 unruptured aneurysms (average size: 6.3 mm), contact with the perianeurysmal environment was found in 15 aneurysms, for which balanced contact was found in 11 (27.5%) and unbalanced contact in 4 (10%), and no contact in 25 (62.5%). The average size of the aneurysms without contact (3.7 mm) was significantly smaller than that with balanced contact (10.3 mm) or with unbalanced contact (11.3 mm). CONCLUSION: Aneurysms exhibit contact with their perianeurysmal environment as soon as they reach a size that exceeds their allowance given by the local subarachnoid space. The contact with the environment was found to be an additional determinant parameter in the evolution of cerebral berry aneurysms and their risk to rupture.- - - - - - - - - - ranking = 11keywords = environment (Clic here for more details about this article) |
10/27. Progressive parkinsonism in a young experimental physicist following long-term exposure to methanol.A case is described of an experimental physicist who developed parkinsonism, apparently as delayed toxic effect of long exposure to vapors of methanol in the laboratory. Clinical and magnetic resonance imaging (MRI) supported the diagnosis, after exclusion of hereditary diseases and primary degenerative diseases. Screening for heavy metals in urine and plasma ceruloplasmin was negative. This case illustrates the neurotoxic delayed effect of long-term exposure to methanol with no episodes of acute intoxication. The setting of a research laboratory with prolonged exposure to mixed single crystals and inhalation of methanol vapors may exist in other academic and hi-tech environments, and pose the risk of similar delayed toxic influences.- - - - - - - - - - ranking = 1keywords = environment (Clic here for more details about this article) |
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