Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “complex diseases”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 577 records · Page 32Linked to original sources

Sporadic case resembling autosomal-dominant motor system degeneration (Azorean disease complex).

We describe a case of an adult-onset progressive dystonia with external ophthalmoplegia, occurring in a black man without a family history of neurologic disorders. Neuropathologic examination demonstrated neuronal loss and gliosis in the anterior horn and Clarke's column in the spinal cord, nuclei of cranial nerves III, VI, X, and XII, vestibular complex, lateral cuneate nucleus, lower pontine tegmentum, red nucleus, substantia nigra, and dentate nucleus. The cerebral cortex, corpus striatum, basis pontis, inferior olives, and cerebellum were spared. The clinical and pathologic findings closely resemble autosomal-dominant motor system degeneration or "Azorean disease," without, however, demonstrable familial transmission. In addition to the absence of a family history, unique features of the case include the presence of Alzheimer type II glial cells in the red nucleus and an unexplained persistent elevated concentration of serum amylase.

Adult↗

Immunology of the porcine respiratory disease complex.

PRDC is a multifactorial respiratory syndrome that includes several respiratory pathogens. As can be observed in this article, although the pathogenesis of some of the respiratory pathogens of pigs is fairly well defined, the host response and the immune response necessary to control the pathogen often remain unclear. As our ability to evaluate the porcine immune system and its ability to respond to disease improves, the knowledge of how each of these respiratory pathogens alter and evade the immune system will increase. The pathogens most commonly isolated from pigs with clinical signs of PRDC either infect the cells of the immune system or induce significant immunopathology. Thus, PRRSV and M. hyopneumoniae, the two most common pathogens associated with PRDC, alter the ability of the respiratory immune system to respond to their presence and the presence of other pathogens. By changing the respiratory immune system, these two common pathogens increase the susceptibility to the many other pathogens associated with PRDC. As we learn more about the pathogens of the respiratory system, their interactions with each other, and the mechanisms by which they modulate the immune system, our ability to develop effective control measures will improve.

Animals↗

[A case of pulmonary Mycobacterium avium complex disease, mimicking hot tub lung].

A 56-year-old man in whom reticulonodular shadows had been noted on a previous chest radiography study was admitted to our hospital with complaint of exertional dyspnea in March 2004. His thoracic computed tomography (CT) showed diffuse ground-glass opacities and multiple centrilobular small nodules in both lung fields. Lymphocytes occupied a high proportion in the cells recovered from the bronchoalveolar lavage fluid. These findings were compatible with those for hypersensitivity pneumonitis. Histopathological findings observed in the video-assisted thoracoscopic surgical biopsy specimens included necrotizing granulomas, organizing pneumonia associated with collective epithelioid cell granulomas without necrosis, and alveolar septal thickening with lymphocyte infiltration that showed a centrilobular distribution. These findings were also compatible with those for hot tub lung. Further information that supported the diagnosis were the identifications of Mycobacterium avium complex in his sputum by acid-fast bacteriological culture as well as positive for Mycobacterium avium polymerase chain reaction in lung specimen. He responded well to corticosteroid therapy, resulting in improvement in his clinical condition as well as in his chest radiographs. He was later put on an antituberculosis therapy, and the corticosteroid therapy was discontinued. This led to an exacerbation of his disease and corticosteroid therapy was restarted. It is not long time since the disease was first recognized, and thus few cases have been reported in Japan. Our report may provide valuable information on the disease in this country.

Alveolitis, Extrinsic Allergic↗

Improvement of the power to detect complex disease genes by regional inference procedures.

Theoretical studies and simulations suggest that "true" linkage peaks are longer than "false" peaks of the same significance level. Our goal for this study was to improve the power of linkage detection by using a regional criterion for linkage; that is, requiring more than one p-value in a given region to pass a threshold. We tested this method by determining the power and type I error for finding the underlying loci on chromosomes 5 and 8 that contribute to the variability of Q1 (after adjusting Q1 for covariates). We used the Haseman-Elston sib-pair statistic to test for linkage of all 367 markers to the adjusted Q1 trait in 100 replicates. We compared the regional inference procedure to that of the Lander and Kruglyak (LK) criteria for significant and suggestive linkage. For example, the power to detect the chromosome 5 locus was 48% for the LK criterion for significant linkage (p < or = 0.0001) and 63% when we required two p-values out of five consecutive ones to be < or = 0.001. The type I error was not more than 5% for either method (2% for the LK and 5% for our criterion). This suggests that using a criterion based on length may improve the power of linkage detection for complex traits.

Chromosome Mapping↗

Concurrent infection of the central nervous system by Borrelia burgdorferi and Bartonella henselae: evidence for a novel tick-borne disease complex.

OBJECTIVES: To investigate Bartonella henselae as a potential human tick-borne pathogen and to evaluate its role as a coinfecting agent of the central nervous system in the presence of neuroborreliosis. DESIGN: Case report study. SETTING: A primary health care center in Flemington, NJ, and the Department of Research and Development at Medical Diagnostic Laboratories LLC in Mt Laurel, NJ. SUBJECTS: Two male patients (aged 14 and 36 years) and 2 female patients (aged 15 and 30 years, respectively) with a history of tick bites and Lyme disease. MAIN OUTCOME MEASURES: Laboratory and diagnostic findings before and after antimicrobial therapy. RESULTS: Patients residing in a Lyme-endemic area of New Jersey with ongoing symptoms attributed to chronic Lyme disease were evaluated for possible coinfection with Bartonella species. Elevated levels of B henselae-specific antibodies were found in these patients using the immunofluorescent assay. Bartonella henselae-specific DNA was detected in their blood. None of these patients exhibited the clinical characteristics of cat-scratch disease. Findings of cerebrospinal fluid analysis revealed the presence of both B henselae- and Borrelia burgdorferi-specific DNA. Bartonella henselae-specific DNA was also detected in live deer ticks obtained from the households of 2 of these patients. CONCLUSIONS: Our data implicate B henselae as a potential human tick-borne pathogen. Patients with a history of neuroborreliosis who have incomplete resolution of symptoms should be evaluated for B henselae infection.

Adult↗

Genetic and cytogenetic analyses of breast cancer yield different perspectives of a complex disease.

Genomic instability in breast cancer results in low-level changes in DNA copy number, a significant but poorly understood mechanism underlying the genetic heterogeneity of this disorder. Two different approaches, loss of heterozygosity (LOH) and comparative genomic hybridization (CGH), have been used to probe the genetics of breast cancer evolution. LOH is a locus specific method that detects the variation in the parental origin of DNA, but is not quantitative. CGH provides a genome-wide accounting of the magnitude of DNA copy number changes, but not parental origin. Both methods have identified complex and heterogeneous patterns of DNA losses, duplications, and amplifications during breast cancer evolution. LOH and CGH technologies interrogate very distinct mechanisms driving breast tumor evolution, yet are seldom used in parallel to profile specimens. Thus, the relative significance of genetic versus numerical variations of DNA in breast cancer evolution remains undefined. This review will attempt to summarize some of the successes of these investigations, highlight some complex and confounding observations emerging from these studies, and discuss the potential of these studies to improve our understanding of breast cancer biology and treatment.

Breast Neoplasms↗

Antibodies to Pasteurella haemolytica somatic antigens in two models of the bovine respiratory disease complex.

Serum samples obtained from feeder calves before and after entry into the market system (days 0 to 7) were assayed for antibodies to Pasteurella hamolytica biotype A, serotype 1 capsular polysaccharide (CPS) and lipopolysaccharide/outer membrane protein (LPSp) by isotype in a kinetic-augmented, antigen-capture ELISA. These test results, plus indirect hemagglutination (IHA) antibody titers, and hemolysin-in-gel test (HIGT) findings were compared with clinical performance data during the initial 4 weeks in the feedlot (receiving period). High concentrations of HIGT antibody, at the point of initial assembly of feeder calves at weaning and during the subsequent 7-day marketing period, were associated with freedom from bovine respiratory disease (BRD) during the receiving period. High or rapidly increasing concentrations of anti-CPS IgG1 during the marketing period were also associated with less BRD. However, high concentrations of anti-LPSp IgG1 during the marketing period were associated with increased BRD during the receiving period. There was no correlation between the concentrations of antibody determined by IHA tests early in the marketing period and freedom from BRD during the receiving period. High concentrations of antibody determined by this test at entry into the feedlot (day 7) were associated with a high incidence of BRD. Calves vaccinated with a P haemolytica bacterin had significantly (P less than 0.05) higher HIGT values and concentrations of anti-LPSp IgG1 and IHA antibody than did nonvaccinated calves on entry into the feedlot (day 7). Vaccination appeared to have little effect on the amount of anti-CPS IgG1. Of all the tests used to quantitate antibody, the HIGT correlated best with clinical performance.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

Pronounced intraspecific haplotype divergence at the RPP5 complex disease resistance locus of Arabidopsis.

In Arabidopsis ecotype Landsberg erecta (Ler), RPP5 confers resistance to the pathogen Peronospora parasitica. RPP5 is part of a clustered multigene family encoding nucleotide binding-leucine-rich repeat (LRR) proteins. We compared 95 kb of DNA sequence carrying the Ler RPP5 haplotype with the corresponding 90 kb of Arabidopsis ecotype Columbia (Col-0). Relative to the remainder of the genome, the Ler and Col-0 RPP5 haplotypes exhibit remarkable intraspecific polymorphism. The RPP5 gene family probably evolved by extensive recombination between LRRs from an RPP5-like progenitor that carried only eight LRRs. Most members have variable LRR configurations and encode different numbers of LRRs. Although many members carry retroelement insertions or frameshift mutations, codon usage analysis suggests that regions of the genes have been subject to purifying or diversifying selection, indicating that these genes were, or are, functional. The RPP5 haplotypes thus carry dynamic gene clusters with the potential to adapt rapidly to novel pathogen variants by gene duplication and modification of recognition capacity. We propose that the extremely high level of polymorphism at this complex resistance locus is maintained by frequency-dependent selection.

Amino Acid Sequence↗

Haemorrhagic bowel syndrome in dairy cattle: possible role of Clostridium perfringens type A in the disease complex.

A survey based on clinical, pathological and microbiological investigations was performed on 11 Brown Swiss cattle affected with depression, anorexia, agalaxia, ruminal hypomotility, abdominal pain and melaena. In eight animals, macroscopical lesions consisted in haemorrhagic enteritis in the small intestine. Seven of eight isolates from tissue samples were identified as Clostridum perfringens type A, and four were identified as C. perfringens type A with the beta2 toxin gene. Based on these observations, animals were considered affected with haemorrhagic bowel syndrome.

Animals↗

Dynamics of virus infections involved in the bovine respiratory disease complex in Swedish dairy herds.

The dynamics of bovine respiratory syncytial virus (BRSV), bovine parainfluenza virus 3 (PIV-3), bovine corona virus (BCoV) and bovine viral diarrhoea virus (BVDV) infections were studied in 118 dairy herds in south western Sweden. By using serology on paired samples from three approximately 7 vs. approximately 15-month-old calves per herd, the propagation of infections was investigated over about a 1-year period. The results implied that at least 74% of calves had experienced one or more of the monitored infections at the age of approximately 7 months (Sample 1, Spring); 30%, 48%, 34% and 8% were seropositive to BRSV, PIV-3, BCoV and BVDV, respectively. Seroconversions to BRSV, PIV-3, BCoV and BVDV occurred in 26%, 38%, 50% and 3% of seronegative animals and 63% had antibodies against two or more infections at approximately 15 months (Sample 2). In total, 90-97% of animals that were seropositive in Sample 1 remained positive in Sample 2. A significant association was found between BVDV and BCoV (P = 0.01). Moreover, a significantly higher proportion of herds in which no calves had a recorded history of respiratory disease (n = 15) were classified as negative to all four infections monitored when compared to herds in which disease was observed (P = 0.0002). This study showed a high infection burden in young animals and effective spread of BRSV, PIV-3 and BCoV in one area of Sweden. BVDV infections were restricted to a few herds, reflecting the effect of a voluntary control program against BVDV in Sweden.

Animal Husbandry↗

Epidemiological study of swine influenza virus as a component of the respiratory disease complex of feeder calves.

A survey of 177 paired calf sera collected during the years 1978-1981 showed that 3.4% of the calves had prior experience with swine influenza virus. Six calves positive by the single radial hemolysis test (SRH) were also positive by the virus neutralization test (VN) in chicken embryos, and one calf reacted with all three tests (hemagglutination-inhibition (HI), SRH, and VN). The SRH and HI tests available cannot adequately provide the information necessary in a survey of this sort. The HI test is subject to too many variations to enable the data to be used with any degree of confidence. The SRH test lacks accepted standarization for performing the test with cattle sera. Therefore, the VN test is necessary for confirmatory results.

Animals↗

Fourier transform-infrared spectroscopy as a new method for evaluating host resistance in the Dutch elm disease complex.

Resistance of elms (Ulmus spp.) to the pathogenic fungus Ophiostoma novo-ulmi Brasier depends on chemical and anatomical factors that confine the spread of the pathogen in the vascular system of the host. This study focused on detecting chemical differences in 4-year-old Ulmus minor Mill. seedlings before and after inoculation with a virulent O. novo-ulmi isolate. According to symptom development over 60 days, the trees were divided into resistant (0-33% wilting) and susceptible (67-100% wilting) groups. Histochemical tests and Fourier transform-infrared (FT-IR) spectroscopy analysis were performed on transverse sections of 2-year-old twigs, 2 days before and 40 days after inoculation. Although histochemical tests did not clearly discriminate susceptible from resistant elms, chemical differences between resistant, susceptible and control trees were detected by FT-IR. The average spectrum for resistant tree samples had higher absorbance peaks than the spectra from the susceptible and control samples, indicating increased formation of lignin and suberin. The roles of lignin and suberin in the resistance of the elms against O. novo-ulmi and the usefulness and sensitivity of the FT-IR technique for analyzing metabolic changes caused by pathogens in plants are discussed.

Ascomycota↗

[Case of pulmonary mycobacterium avium complex disease, showing hypersensitivity pneumonitis-like diffuse shadow].

A 59-year-old man who had just completed therapy for tuberculosis, fell down in sauna and was admitted to a hospital. As acid-fast bacilli were positive (Gaffky 2) in sputum and residual cavity was shown in the right upper lobe on chest X-ray, he was transferred to our hospital. In spite of starting antituberculous chemotherapy, small nodular shadows appeared diffusely and were changed into ground-glass appearance on chest X-ray. The trans-bronchial-lung-biopsy revealed alveolitis mainly composed of lymphocyte infiltration with non-caseous epithelioid cell granulomas and organization which are likely to appear in hypersensitivity pneumonitis. As the acid-fast bacilli were identified as Mycobacterium avium, clarithromycin and kanamycin were added to the chemotherapy, but no improvement was observed in clinical feature. Corticosteroid therapy was further added and clinical feature improved immediately. Although we did not examine the presence of Mycobacterium avium in the water of sauna bath, we suspected this case as Hot Tub Lung based on clinical features and the response to treatment.

Alveolitis, Extrinsic Allergic↗