Prion codon 129 homozygosity and sporadic inclusion body myositis.
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Genotype↗
Biomedical subjects
J Lampe
Publications and source records attributed to J Lampe.
The leisure satisfaction of people with psychiatric disabilities.
Leisure is considered to be an important part of life for every individual. This is even more so for people who have limited employment prospects and life options. The primary handicaps associated with mental illness create problems with social relationships and can hinder individuals from participating in or enjoying leisure pursuits. The aim of this exploratory study was to examine leisure satisfaction in a sample of one hundred adults with a mental illness who were clients of an Australian community mental health rehabilitation service. The Leisure Satisfaction Survey and the Life Skills Profile were administered to these clients to determine their leisure satisfaction and general functioning. Contrary to expectations, results indicated that the clients of mental health rehabilitation services believe that their leisure pursuits provide them with intellectual stimulation, enjoyable relationships with others and relaxation, suggesting that they are very satisfied with the activities they engage in during their leisure time. In general, these clients were more satisfied with their leisure than the normative population. Consistent with expectations, clients with lower disability and in particular with high capacity for social contact were most satisfied with their leisure pursuits. The significance of these results and the utility of the Leisure Satisfaction Survey with this population are discussed.
Adult↗
Methionine homozygosity at prion gene codon 129 may predispose to sporadic inclusion-body myositis.
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Codon↗
Development of a soy food frequency questionnaire to estimate isoflavone consumption in US adults.
OBJECTIVE: To develop a dietary assessment instrument to measure soy food consumption and isoflavone intake and test it for reliability. DESIGN: A soy food frequency questionnaire, designed for use in this study, was administered twice to participants, separated by a 2-week interval. The questionnaire was tested for reproducibility of estimates of soy food consumption and isoflavone (genistein and daidzein) intake. SUBJECTS/SETTING: A convenience sample of 51 faculty, staff, and students was recruited from a naturopathic university. STATISTICAL ANALYSES PERFORMED: Intraclass correlation coefficients were used to assess reproducibility of estimates of soy food intake and genistein and daidzein intake. RESULTS: Correlation coefficients comparing mean soy food servings per month between the 2 administrations of the questionnaire ranged from 0.50 for soy yogurt to 0.89 for tempeh. Correlation coefficients for genistein and daidzein intake estimated by the 2 administrations of the questionnaire were the same: 0.89. Mean intake (+/- standard deviation) of genistein and daidzein was 7 +/- 10 and 4 +/- 6 mg/day, respectively. Fifteen soy foods contributed 95% of the total genistein and daidzein intake: tofu, soy yogurt, tempeh, soy milk, low-fat tofu, soy flour, miso, soy protein isolate, low-fat soy milk, veggie soy burger, textured vegetable protein, miso soup, cooked soybeans, soy hot dogs, and natto (fermented soy beans). APPLICATIONS: The soy food frequency questionnaire developed in this study provided highly reproducible estimates of soy food consumption and isoflavone intake. This instrument may be a useful tool in studies of the associations between isoflavone exposure and risk for chronic disease.
Adult↗
A 35-year-old bricklayer with hemimyoclonic jerks.
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Adult↗
Are phytoestrogens nature's cure for what ails us? A look at the research. Interview by Nancy I. Hahn.
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Animals↗
Degeneration of the cerebellar granule cell layer in transgenic mice expressing genes of human foamy virus.
Transgenic mice expressing various combinations of structural and regulatory genes of human foamy virus (HFV) develop a neurodegenerative syndrome. delta gpe transgenic mice (which express the auxiliary bel-1 and bet genes along with truncated forms of gag, pol, and env) develop a severe neurological syndrome consisting mainly of spastic tetraparesis and blindness, and show neuronal loss in the hippocampus and cerebral cortex. In addition, mice in two of eight delta gpe lines developed an ataxic gait. Here we studied the phenotype of these two lines, and show that these mice exhibit progressive degeneration of their cerebellar granule cells beginning at 4-8 weeks of age. Transgenic mRNA and HFV proteins accumulate in cerebellar granule cells immediately before the onset of degeneration. The Purkinje cell layer is largely unaffected by this pathological process. Probably due to the loss of granule cell processes, the cerebellar molecular layer is narrowed in the late stages of the disease. These findings indicate that HFV gene products can be neurotoxic for cerebellar granule cells.
Animals↗
CD44 expression is aberrant in benign Schwann cell tumors possessing mutations in the neurofibromatosis type 2, but not type 1, gene.
Atypical expression of CD44 splice variants has been implicated in the progression of numerous tumors. This abnormal CD44 expression is presumed to result from gene alterations that cause tumorigenic transformation. Two tumor types that have been linked to specific gene alterations are schwannomas, which have mutations in the neurofibromatosis (NF) type 2 (NF2) gene, and neurofibromas, which characteristically possess NF type 1 (NF1) gene mutations. We examined CD44 expression in normal sciatic nerves, in schwannomas with confirmed NF2 mutations, and in neurofibromas and malignant peripheral nerve sheath tumor tissue and cell lines from NF1 patients. Compared to normal nerves, schwannomas express higher total levels of CD44 and additional splice variants, whereas CD44 expression in neurofibromas is unaltered. Malignant peripheral nerve sheath tumor tissue and cell lines express the CD44v6 epitope, which is not expressed by normal Schwann cells or by other Schwann cell tumors. These data indicate that altered CD44 expression correlates strictly with mutations in the NF2 but not NF1 gene and suggest that CD44v6 might be a marker for the malignant transformation of Schwann cells.
Alternative Splicing↗
Reduced expression of the P2 form of the gap junction protein connexin43 in malignant meningiomas.
Neoplastic transformation is often associated with aberrant gap junctional intercellular communication. We assessed mutations and expression of the connexin43 (Cx43) gene in 49 intracranial meningiomas. SSCP analyses followed by direct DNA sequencing showed GCG-->GTG (Ala-->Val) transition mutation in codon 253 of the cytoplasmic carboxyl terminal of the Cx43 gene in 1 of 31 (3%) benign meningiomas and 1 of 14 (7%) anaplastic meningiomas. The same base change was present in normal tissue from these patients and also in 4 of 80 (5%) DNA samples extracted from lymphocytes of healthy Europeans, suggesting that this constitutes a newly identified Cx43 polymorphism. Western blot analyses showed expression of phosphorylated P1 (45 kD) and P2 (47 kD) Cx43 as well as the unphosphorylated form (42 kD) in 11 of 14 (79%) benign meningiomas. In contrast, the P2 form was not detectable in the majority (7 of 9; 78%) of atypical and anaplastic meningiomas. Since the presence of the P2 form is often associated with optimal function of the Cx43, these results suggest that loss or impaired gap junctional cell to cell communication may be associated with meningiomas displaying more rapid growth and a less favorable prognosis.
Adult↗
Preferential expression of Fas/APO1 (CD95) and apoptotic cell death in perinecrotic cells of glioblastoma multiforme.
Fas/APO-1 (CD95)-mediated apoptosis is one of the major mechanisms of programmed cell death. We have previously shown by reverse transcriptase-polymerase chain reaction that Fas is frequently expressed in malignant gliomas [Tachibana et al. (1995) Cancer Res 55: 5528-5530]. In this study, we assessed Fas expression in astrocytomas using a polyclonal anti-Fas antibody. Immunoreactivity to Fas was detected in 1 out of 9 (11%) low-grade astrocytomas (WHO grade II), 2 of 11 (18%) anaplastic astrocytomas (WHO grade III) and in 13 of 15 (87%) glioblastomas (WHO grade IV). In glioblastomas, Fas expression was almost exclusively observed in glioma cells surrounding foci of necrosis. In these perinecrotic areas, there was also an accumulation of glioma cells undergoing apoptosis, as detected by in situ nick-end labeling. This suggests that Fas-mediated apoptosis may play a role in the pathogenesis of necrosis which constitutes a histological hallmark of glioblastoma multiforme.
Adolescent↗
Expression of Fas/APO-1 during the progression of astrocytomas.
Fas/APO-1 (CD95) is an apoptosis-signaling receptor molecule on the surface of cells. To investigate the possible role of Fas during malignant transformation of glial cells, we analyzed the expression of Fas mRNA by reverse transcription-PCR in human astrocytic brain tumors. Expression was found in 1 of 4 (25%) juvenile pilocytic astrocytomas (WHO grade I), 1 of 9 (11%) low-grade astrocytomas (WHO grade II), 6 of 12 (50%) anaplastic astrocytomas (WHO grade III), and all of 9 glioblastomas (WHO grade IV). Thus, the frequency of Fas expression appears to correlate with the malignancy grade of astrocytomas. The soluble form of the Fas mRNA lacking the transmembrane domain was detected in one anaplastic astrocytoma and in two glioblastomas.
Adolescent↗
Determination of lignans and isoflavonoids in plasma by isotope dilution gas chromatography-mass spectrometry.
A quantitative method based on ion-exchange chromatography and isotope dilution gas chromatography-mass spectrometry using deuterated internal standards for the determination of plasma lignans and isoflavonoid phytoestrogens has been developed. These compounds are potential anticancer compounds originating from the diet. The method allows the assay of seven different compounds, while unconjugated (free) and sulfated compounds are determined separately from glucuronides and sulfoglucuronides. Results of plasma analyses in Finnish women and in Japanese men are presented. Total concentrations of individual compounds vary greatly between the subjects (from pmol/l to mumol/l), with the Finnish vegetarians and Japanese subjects having higher values. The Finns have relatively high lignan and the Japanese very high isoflavonoid values. It is concluded that the new method allows the determination of the whole plasma lignan and isoflavonoid phytoestrogen profile.
Female↗
Clonal expansion of hypermutated measles virus in a SSPE brain.
Nucleotide sequence analysis was carried out to study genes encoding the matrix (M) protein of measles virus (MV) from several regions of the brain of a case of subacute sclerosing panencephalitis. This analysis revealed the presence of MV with "wild-type" sequences as well as variants which had undergone at least five biased hypermutation events (U to C and A to G in the positive strand sequences). Despite the presence of MV variants with genes encoding the intact matrix protein open reading frame, M protein could not be detected in any of the brain regions. The distribution of virus variants was studied by cDNA cloning and sequence analysis and by in situ hybridization. The hypermutated viruses appeared to expand clonally throughout the brain of patient B.
Adult↗
Quantitative determination of lignans and isoflavonoids in plasma of omnivorous and vegetarian women by isotope dilution gas chromatography-mass spectrometry.
The first quantitative method for the determination of both lignans and isoflavonoid phytoestrogens in plasma is presented. Using ion-exchange chromatography the diphenols are separated into two fractions 1) the biologically "active" fraction containing the free compounds + mono- and disulfates and 2) the biologically "inactive" fraction containing the mono- and diglucuronides and the sulfoglucuronides. After hydrolysis the fractions are further purified by solid phase extraction and ion exchange chromatography. Losses during the complete procedure are corrected for using radioactive estrogen conjugates during the first steps and later by adding deuterated internal standards of all compounds measured (matairesinol, enterodiol, enterolactone, daidzein, O-desmethylangolensin, equol, and genistein). The final determination is carried out by isotope dilution gas chromatography-mass spectrometry in the selected ion monitoring mode (GC/MS/SIM). The diphenols may be measured at concentrations as low as 0.2 to 1.0 nmol/l. Results of plasma analyses of all compounds in 27 pre- and postmenopausal omnivorous and vegetarian women are presented for the first time. The most important findings are that the free+sulfate fraction is low for genistein (3.8% of total), but as much as 21-25% of enterolactone and enterodiol occurs in this fraction. A good correlation between plasma and urine values was found. Total concentrations of individual compounds vary greatly between the subjects (from pmol/l to mumol/l), the vegetarians having higher values, particularly one vegan subject. The highest total enterolactone concentration value exceeded 1 mumol/l. It is concluded that a highly specific method for the assay of 3 lignans and 4 isoflavonoids in plasma has been developed. This method will be useful in future studies of lignan and isoflavonoid metabolism.
Diet, Vegetarian↗
[Primary melanoblastoma as a cause of occlusive hydrocephalus].
Primary melanoblastomas of the Central Nervous System are comparatively rare tumors. Lumpy or diffuse forms may occur either alone or in combination. On the basis of actual case histories, diffuse cerebral and medullary melanoblastoma is presented as a rare cause of occlusive hydrocephalus.
Brain↗
[Injuries of the basilar artery].
In 2 to 3 per cent of the severe craniocerebral occlusions of the cerebral basic arteries are observed. Traumatic vertebralis and basilaris thromboses are very rare. In view of the modern procedure in diagnostics and therapy the prognosis of these life-threatening traumatic consequences are not infaust. According to a casuistic information pathophysiology, diagnostic procedure and therapeutical possibilities, microsurgical or by local fibrinolysis, are discussed.
Adult↗
[Late results following treatment of peripheral nerve injuries of the upper extremity].
The authors re-examine cases of complete peripheral nerve injury of the upper extremity. Motor activity and sensibility assessment make use of Highet's scale. Some general principles of surgical treatment of peripheral nerve injuries are presented and individual factors which influence its results are worked out, e.g. moment of diagnosis, kind of nerve suture, moment of operation, age of patient, grade of injury, concomitant injuries, and length of graft. Conclusions are drawn for the concept of treatment.
Adolescent↗