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1.
Mar Pollut Bull ; 100(1): 327-333, 2015 Nov 15.
Article in English | MEDLINE | ID: mdl-26323859

ABSTRACT

Fungi of the Ascomycota phylum were isolated from oil-soaked sand patties collected from beaches following the Deepwater Horizon oil spill. To examine their ability to degrade oil, fungal isolates were grown on oiled quartz at 20°C, 30°C and 40°C. Consistent trends in oil degradation were not related to fungal species or temperature and all isolates degraded variable quantities of oil (32-65%). Fungal isolates preferentially degraded short (

Subject(s)
Ascomycota/isolation & purification , Ascomycota/metabolism , Petroleum Pollution , Petroleum/metabolism , Alkanes/chemistry , Alkanes/metabolism , Biodegradation, Environmental , Environmental Pollutants/chemistry , Environmental Pollutants/metabolism , Gulf of Mexico , Molecular Weight , Polycyclic Aromatic Hydrocarbons/chemistry , Polycyclic Aromatic Hydrocarbons/metabolism , Quartz , Silicon Dioxide
2.
Eur J Neurol ; 22(5): 745-52, 2015 May.
Article in English | MEDLINE | ID: mdl-25683866

ABSTRACT

BACKGROUND AND PURPOSE: The aim of our study was to determine the utility of longitudinal magnetic resonance imaging (MRI) measurements as potential biomarkers in the main genetic variants of frontotemporal dementia (FTD), including microtubule-associated protein tau (MAPT) and progranulin (GRN) mutations and C9ORF72 repeat expansions, as well as sporadic FTD. METHODS: In this longitudinal study, 58 subjects were identified who had at least two MRI and MAPT mutations (n = 21), GRN mutations (n = 11), C9ORF72 repeat expansions (n = 11) or sporadic FTD (n = 15). A total of 198 serial MRI measurements were analyzed. Rates of whole brain atrophy were calculated using the boundary shift integral. Regional rates of atrophy were calculated using tensor-based morphometry. Sample size estimates were calculated. RESULTS: Progressive brain atrophy was observed in all groups, with fastest rates of whole brain atrophy in GRN, followed by sporadic FTD, C9ORF72 and MAPT. All variants showed greatest rates in the frontal and temporal lobes, with parietal lobes also strikingly affected in GRN. Regional rates of atrophy across all lobes were greater in GRN compared to the other groups. C9ORF72 showed greater rates of atrophy in the left cerebellum and right occipital lobe than MAPT, and sporadic FTD showed greater rates in the anterior cingulate than C9ORF72 and MAPT. Sample size estimates were lowest using temporal lobe rates in GRN, ventricular rates in MAPT and C9ORF72, and whole brain rates in sporadic FTD. CONCLUSION: These data support the utility of using rates of atrophy as outcome measures in future drug trials in FTD and show that different imaging biomarkers may offer advantages in the different variants of FTD.


Subject(s)
Brain/pathology , Frontotemporal Dementia/pathology , Intercellular Signaling Peptides and Proteins/genetics , Magnetic Resonance Imaging/methods , Proteins/genetics , tau Proteins/genetics , Aged , Atrophy/pathology , Biomarkers , C9orf72 Protein , Female , Frontotemporal Dementia/diagnosis , Frontotemporal Dementia/genetics , Humans , Longitudinal Studies , Male , Middle Aged , Mutation , Progranulins
3.
Neurology ; 75(9): 771-8, 2010 Aug 31.
Article in English | MEDLINE | ID: mdl-20805522

ABSTRACT

OBJECTIVE: To determine the proton magnetic resonance spectroscopy ((1)H MRS) changes in carriers of microtubule-associated protein (MAPT) mutations in a case-control study. METHODS: Patients with MAPT mutations (N279K, V337M, R406W, IVS9-10G>T, P301L) from 5 different families (n = 24) underwent MRI and single voxel (1)H MRS from the posterior cingulate gyrus inferior precuneus at 3 T. Ten of the patients were symptomatic with median Clinical Dementia Rating sum of boxes score (CDR-SOB) of 6.5 and 14 patients were presymptomatic with CDR-SOB of 0. Age- and sex-matched controls (n = 24) were recruited. RESULTS: Symptomatic MAPT mutation carriers were characterized by decreased N-acetylaspartate/creatine (NAA/Cr) ratio, an index of neuronal integrity, increased myoinositol (mI)/Cr ratio, a possible marker for glial activity, decreased NAA/mI, and hippocampal atrophy (p < 0.001). Whereas presymptomatic MAPT mutation carriers had elevated mI/Cr and decreased NAA/mI (p < 0.001), NAA/Cr levels and hippocampal volumes were not different from controls. Decrease in NAA/Cr (R(2) = 0. 22; p = 0.021) and hippocampal volumes (R(2) = 0.46; p < 0.001) were associated with proximity to the expected or actual age at symptom onset in MAPT mutation carriers. CONCLUSION: (1)H MRS metabolite abnormalities characterized by an elevated mI/Cr and decreased NAA/mI are present several years before the onset of symptoms in MAPT mutation carriers. The data suggest an ordered sequencing of the (1)H MRS and MRI biomarkers. MI/Cr, a possible index of glial proliferation, precedes the decrease in neuronal integrity marker NAA/Cr and hippocampal atrophy. (1)H MRS may be a useful inclusion biomarker for preventive trials in presymptomatic carriers of MAPT mutations and possibly other proteinopathies.


Subject(s)
Heterozygote , Magnetic Resonance Spectroscopy , Mutation , Tauopathies/metabolism , tau Proteins/physiology , Adult , Aged , Biomarkers/metabolism , Case-Control Studies , Dementia/diagnosis , Dementia/genetics , Dementia/metabolism , Female , Hippocampus/metabolism , Hippocampus/pathology , Humans , Magnetic Resonance Spectroscopy/methods , Male , Middle Aged , Tauopathies/diagnosis , Tauopathies/genetics , tau Proteins/genetics , tau Proteins/metabolism
4.
Lancet ; 375(9710): 231-8, 2010 Jan 16.
Article in English | MEDLINE | ID: mdl-20109924

ABSTRACT

As national programmes respond to the new opportunities presented for scaling up preventive chemotherapy programmes for the coadministration of drugs to target lymphatic filariasis, onchocerciasis, schistosomiasis, soil-transmitted helminthiasis, and trachoma, possible synergies between existing disease-specific policies and protocols need to be examined. In this report we compare present policies for mapping, monitoring, and surveillance for these diseases, drawing attention to both the challenges and opportunities for integration. Although full integration of all elements of mapping, monitoring, and surveillance strategies might not be feasible for the diseases targeted through the preventive chemotherapy approach, there are opportunities for integration, and we present examples of integrated strategies. Finally, if advantage is to be taken of scaled up interventions to address neglected tropical diseases, efforts to develop rapid, inexpensive, and easy-to-use methods, whether disease-specific or integrated, should be increased. We present a framework for development of an integrated monitoring and evaluation system that combines both integrated and disease-specific strategies.


Subject(s)
Developing Countries , Health Policy , Parasitic Diseases/epidemiology , Population Surveillance , Tropical Climate , Elephantiasis, Filarial/diagnosis , Elephantiasis, Filarial/epidemiology , Helminthiasis/diagnosis , Helminthiasis/epidemiology , Helminthiasis/transmission , Humans , Onchocerciasis/diagnosis , Onchocerciasis/epidemiology , Parasitic Diseases/diagnosis , Parasitic Diseases/prevention & control , Schistosomiasis/diagnosis , Schistosomiasis/epidemiology , Trachoma/diagnosis , Trachoma/epidemiology
5.
Neurology ; 70(8): 596-606, 2008 Feb 19.
Article in English | MEDLINE | ID: mdl-17914065

ABSTRACT

OBJECTIVE: Plasma A beta levels are elevated in early-onset Alzheimer disease (AD) caused by autosomal dominant mutations. Our objective was to determine whether similar genetic elevations exist in late-onset AD (LOAD). METHODS: We measured plasma A beta in first-degree relatives of patients with LOAD in a cross-sectional series and in extended LOAD families. We screened these subjects for pathogenic mutations in early-onset AD genes and determined their ApoE genotypes. RESULTS: Plasma A beta is significantly elevated in the LOAD first-degree relatives in comparison to unrelated controls and married-in spouses. These elevations are not due to ApoE epsilon 4 or pathogenic coding mutations in the known early-onset AD genes. CONCLUSIONS: The findings provide strong evidence for the existence of novel, as yet unknown genetic factors that affect late-onset Alzheimer disease by increasing A beta.


Subject(s)
Alzheimer Disease/blood , Amyloid beta-Peptides/blood , Family Health , Adult , Age Factors , Aged , Aged, 80 and over , Alzheimer Disease/genetics , Apolipoprotein E4/genetics , Enzyme-Linked Immunosorbent Assay/methods , Female , Humans , Male , Middle Aged , Peptide Fragments/blood , Polymorphism, Genetic , Presenilins/genetics , Psychiatric Status Rating Scales , Sex Factors , Time Factors
6.
J Neural Transm (Vienna) ; 114(7): 947-50, 2007 Jul.
Article in English | MEDLINE | ID: mdl-17318302

ABSTRACT

In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.


Subject(s)
Chromosomes, Human, Pair 17/genetics , Frontotemporal Lobar Degeneration/genetics , Genetic Linkage , Mutation/genetics , Parkinsonian Disorders/genetics , tau Proteins/genetics , Adult , Female , Frontotemporal Lobar Degeneration/pathology , Genotype , Haplotypes/genetics , Humans , Male , Parkinsonian Disorders/pathology , Young Adult
7.
Neurology ; 67(4): 620-5, 2006 Aug 22.
Article in English | MEDLINE | ID: mdl-16924015

ABSTRACT

OBJECTIVE: To report genealogic, clinical, imaging, neuropathologic, and genetic data from a Canadian kindred with dystonia and brain calcinosis originally described in 1985. METHODS: The authors performed clinical examinations and CT and PET studies of the head and analyzed blood samples. One autopsy was performed. RESULTS: The family tree was expanded to 166 individuals. No individuals were newly affected with dystonia, but postural tremor developed in two. The mean age at symptom onset was 19 years. Eight individuals had dystonia: three focal, one segmental, one multifocal, and three generalized. Seven displayed additional signs: chorea, intellectual decline, postural tremor, and dysarthria. CT studies were performed on five affected and 10 at-risk family members. All affected individuals and eight at-risk individuals had brain calcinosis. PET scans in two individuals showed reduced D(1)- and D(2)-receptor binding and reduced uptake of 6-[(18)F]fluoro-l-dopa. Autopsy of one affected individual showed extensive depositions of calcium in the basal ganglia, thalamus, cerebral white matter, and cerebellum. No specific immunohistochemistry abnormalities were seen. Genome search data showed no evidence of linkage to the previously described loci IBGC1, DYT1, and DYT12. CONCLUSIONS: The phenotype of this family consists of dystonia-plus syndrome. Brain calcium deposits vary in severity and distribution, suggesting that calcifications alone are not entirely responsible for the observed clinical signs. Further studies are needed to elucidate the etiology of this heterogeneous group of disorders.


Subject(s)
Brain Diseases/epidemiology , Brain Diseases/genetics , Calcinosis/epidemiology , Calcinosis/genetics , Chromosomes, Human, Pair 14/genetics , Dystonic Disorders/epidemiology , Dystonic Disorders/genetics , Adolescent , Adult , Aged , Canada/epidemiology , Child , Chromosome Disorders/epidemiology , Chromosome Disorders/genetics , Comorbidity , Female , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Heterozygote , Humans , Male , Middle Aged , Pedigree , Prevalence , Risk Assessment/methods , Risk Factors
8.
Oncol Nurs Forum ; 27(8): 1279-86, 2000 Sep.
Article in English | MEDLINE | ID: mdl-11013908

ABSTRACT

PURPOSE/OBJECTIVES: To describe patient outcomes (e.g., pain intensity and relief, satisfaction, expectations) and analgesic practices of healthcare providers for inpatients and outpatients in community hospital settings. DESIGN: Descriptive, correlational, and random sampling. SETTING: Three community-based institutions in southeast Louisiana. SAMPLE: 114 inpatients and outpatients with cancer-related or acute postoperative pain. Inpatients (n = 68) mostly were women and younger than 60 years of age. Outpatients (n = 46) mostly were men and older than 60 years of age. Both groups were predominantly well-educated and Caucasian. METHODS: Subjects completed a modified version of the American Pain Society's Patient Satisfaction Survey. Researchers completed a chart audit tool reviewing analgesic prescriptive and administrative practices. FINDINGS: Weak to moderately strong correlations existed for the relationships between the satisfaction variables and the pain intensity, pain relief, and expectation variables for all subjects. Satisfaction with current pain intensity was correlated most strongly with pain intensity and relief scores. Higher pain intensity and relief were related to lower satisfaction with current pain intensity. CONCLUSIONS: Regardless of setting or pain type, subjects experienced significant amounts of pain during a 24-hour period. Patient expectations for experiencing high levels of pain were realized, but expectations for significant pain relief were not. IMPLICATIONS FOR NURSING PRACTICE: Institutional pain management programs that approach pain from a multidimensional perspective need to be developed. Continued education for healthcare professionals and patients is a vital part of this process.


Subject(s)
Analgesics/therapeutic use , Hospitals, Community/standards , Medical Audit , Pain Measurement/classification , Pain/drug therapy , Patient Satisfaction/statistics & numerical data , Adult , Aged , Female , Humans , Inpatients/psychology , Louisiana , Male , Middle Aged , Neoplasms/complications , Oncology Nursing , Outcome and Process Assessment, Health Care , Outpatients/psychology , Pain/etiology , Pain/physiopathology
9.
Br J Med Psychol ; 73 ( Pt 3): 289-301, 2000 Sep.
Article in English | MEDLINE | ID: mdl-11003370

ABSTRACT

Religious commitment as an influence upon seeking help for psychological problems has not received the same level of research attention as variables such as sex, ethnicity and cultural background. The construing of members of a group of committed UK Christians was investigated, regarding their receiving such help from a variety of different helpers, professional and non-professional, secular and spiritual. Each participant was asked to interpret the factors statistically identified from construct and element relationships in a repertory grid that they had completed. Their commentaries formed the data for a qualitative thematic analysis, which gave rise to four main themes. From these, a tentative model is discussed. Possible implications for the acceptance of service provision by the substantial minority groups of religiously committed people in the UK are considered in the light of this model--and in the light of the further research that would be needed to establish it.


Subject(s)
Attitude , Mood Disorders/therapy , Patient Acceptance of Health Care/psychology , Religion and Psychology , Adult , Christianity , Female , Humans , Male , Mental Health Services
10.
Med Device Technol ; 11(10): 39, 42, 2000 Dec.
Article in English | MEDLINE | ID: mdl-11200155
11.
Cancer Genet Cytogenet ; 101(1): 72-4, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9460505

ABSTRACT

We describe a diffuse large cell (Kiel-1) lymphoma in a 76-year-old man that is noteworthy because, apart from a missing Y, the only chromosome change was a hitherto undescribed reciprocal translocation, t(9;11)(p21-22;q13). It is interesting that the breakpoints lay in the vicinity of genes that encode proteins engaged in cell cycle control: CCND1 situated at 11q13 and p15 and p16 at 9p21.


Subject(s)
Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 9 , Lymphoma, Large B-Cell, Diffuse/genetics , Y Chromosome , Cell Cycle , Chromosome Banding , Chromosome Deletion , Humans , Male
13.
Cancer Genet Cytogenet ; 85(2): 129-32, 1995 Dec.
Article in English | MEDLINE | ID: mdl-8548736

ABSTRACT

In view of the sparsity of reports on nucleolar organizer regions (NORs) in human tumor metaphase chromosomes, we have applied the silver (Ag-NOR) technique to a previously studied testicular germ-cell tumor that had an abnormal translocation, which involved a 13p, and to nine new sequentially studied tumors. Six of the new tumors, and the germ cell tumor, showed ectopic NORs (e.g., at the end of the long arm of acrocentrics or metacentrics, or interstitially in metacentrics): five carcinomas and a leiomyosarcoma, all of which also revealed numerous structural chromosome changes after G-banding. The three tumors that did not show ectopic NORs were lymphomas with relatively simple karyotypic changes. It seems that the presence of ectopic NORs in the majority of the tumors is a reflection of the multiplicity of structural changes in these tumors and does not signify that there is any particular propensity for acrocentrics to take part in these changes. It was interesting that several of the chromosomes showed large notably a metacentric in a squamous cell carcinoma of the skin in which the Ag-NOR-positive region was seen as an unstained gap in unbanded and G-banded chromosomes.


Subject(s)
Metaphase , Neoplasms/genetics , Nucleolus Organizer Region , Adult , Aged , Aged, 80 and over , Female , Humans , Karyotyping , Male , Middle Aged , Silver Staining
15.
Med Device Technol ; 6(4): 31-3, 1995 May.
Article in English | MEDLINE | ID: mdl-10155385

ABSTRACT

Europe has taken legislative measures to improve the management of packaging and packaging waste. This article outlines the arguments for excluding medical device packaging from the provisions of the recently published European Directive on packaging and packaging waste. Developments in a new barrier test method and further increases in the price of raw materials are also discussed.


Subject(s)
Equipment and Supplies , Product Packaging/standards , Equipment Reuse , Europe , Evaluation Studies as Topic , Guidelines as Topic , Humans , Product Packaging/economics , Product Packaging/legislation & jurisprudence
16.
Cancer Genet Cytogenet ; 79(2): 111-4, 1995 Feb.
Article in English | MEDLINE | ID: mdl-7889499

ABSTRACT

Chromosome studies on a highly malignant tumor, a small cell carcinoma of the bladder (the first to be studied cytogenetically), showed a hypertriploid mainline and a hypertetraploid minor line. Extensive chromosomal rearrangements were present in both lines, some rearranged chromosomes being seen in only one of the lines, while others, derived from chromosomes 6, 9, 11, 13, and 18, were seen in both. Although different giant chromosomes were present in the two lines, they shared a possibly significant common feature: multiple copies of 2q. DNA flow cytometry confirmed that the tumor had a hypertriploid main mode and showed that dysplastic surface epithelium present in the histologic material also had a hypertriploid DNA index. p53 expression in the tumor was demonstrated by flow cytometry.


Subject(s)
Carcinoma, Small Cell/genetics , Chromosome Aberrations , Tumor Suppressor Protein p53/genetics , Urinary Bladder Neoplasms/genetics , DNA, Neoplasm/analysis , Humans , Karyotyping , Male , Middle Aged
17.
Cancer Genet Cytogenet ; 74(2): 153-5, 1994 Jun.
Article in English | MEDLINE | ID: mdl-8019962

ABSTRACT

In a previous study, we described 17p+ chromosomes in about 40% of carcinomas of the cervix, but it was usually not possible to identify the additional material on the short arm of the chromosome 17. Here we report an apparently identical rearranged chromosome in two squamous cell carcinomas of the cervix and one of the skin, in which the whole of 17p has been replaced by the long arm of a chromosome 22: der(17;22)(q10;q10), suggesting that this rearrangement may represent a significant step in the development of carcinomas of the cervix and other sites.


Subject(s)
Chromosome Aberrations , Skin Neoplasms/genetics , Uterine Cervical Neoplasms/genetics , Adult , Female , Humans , Karyotyping , Male , Middle Aged
18.
Comput Biol Med ; 23(5): 345-7, 1993 Sep.
Article in English | MEDLINE | ID: mdl-8222613

ABSTRACT

Conventional video-recordings of pediatric bronchoscopic procedures are routinely performed in many centers. The limitations of conventional video-recordings include an inability to concurrently compare serially recorded images, lack of color fidelity of the displayed image, difficulty in image retrieval of archived video, and the inability to subject the image to mathematical analysis. We describe a computer interface which addresses each of these limitations.


Subject(s)
Bronchoscopy/methods , Computer Systems , Videotape Recording , Bronchoscopes , Child , Data Display , Fiber Optic Technology/instrumentation , Humans , Pediatrics/instrumentation , Software , Videotape Recording/instrumentation , Videotape Recording/methods
19.
Cancer Genet Cytogenet ; 67(2): 123-5, 1993 Jun.
Article in English | MEDLINE | ID: mdl-8330268

ABSTRACT

Deletions of the long arm of chromosome 7, with breakpoints varying from q11 to q34, are described in 13 malignant tumors, including three carcinomas of the prostate, three colorectal carcinomas, and four testicular germ cell tumors. In two of the tumors, the chromosome also had a deletion of 7p. Review of the literature shows that 7q- chromosomes have been detected in various tumor types and are particularly common in benign and malignant mesothelial tumors, secondary leukemias, testicular cancers, and carcinomas of the ovary and prostate. Their significance may lie in loss of an unknown tumor-suppressor gene situated distally on 7q.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 7 , Neoplasms/genetics , Breast Neoplasms/genetics , Colorectal Neoplasms/genetics , Female , Humans , Male , Ovarian Neoplasms/genetics , Prostatic Neoplasms/genetics , Testicular Neoplasms/genetics , Urinary Bladder Neoplasms/genetics
20.
Genes Chromosomes Cancer ; 6(4): 218-21, 1993 Apr.
Article in English | MEDLINE | ID: mdl-7685624

ABSTRACT

A chromosome 12-derived marker was seen in each of 3 testicular germ cell tumors that lacked the i(12p). An interesting feature of 2 of the markers was that the major part, including the centromere, of an acrocentric (a #13 and #14, respectively) was translocated onto 12p, resulting in a dicentric. In the third tumor, 13q (translocated onto 12q) was again probably involved in the rearrangement. The findings support the view that the amplification of genes on 12p represents a significant step in the development of germ cell tumors.


Subject(s)
Chromosomes, Human, Pair 12 , Dysgerminoma/genetics , Neoplasms, Multiple Primary/genetics , Teratoma/genetics , Testicular Neoplasms/genetics , Translocation, Genetic , Adult , Chromosomes, Human, Pair 12/ultrastructure , Chromosomes, Human, Pair 13/ultrastructure , Chromosomes, Human, Pair 14/ultrastructure , Dysgerminoma/pathology , Gene Amplification , Genetic Markers , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male , Middle Aged , Neoplasms, Multiple Primary/pathology , Teratoma/pathology , Testicular Neoplasms/pathology
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