Cases reported "Chronic Disease"

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1/128. Stable engraftment after megadose blood stem cell transplantation across the HLA barrier: the case for natural killer cells as graft-facilitating cells.

    BACKGROUND: The case of a patient with chronic myelogenous leukemia who underwent transplantation with highly purified CD34 peripheral blood stem cells from his two-antigen-mismatched mother is reported. No graft-versus-host disease has been observed so far and stable engraftment has been documented until day 100. methods: Weekly analysis of chimerism in different cellular subsets was performed using a quantitative polymerase chain reaction assay for nine short tandem repeat markers in leukocytes sorted by fluorescence-activated cell sorting. RESULTS: No donor CD4 or CD8 T cells have been detected up to 3 months after transplantation, whereas a rapid increase of donor CD56 natural killer (NK) cells was observed in parallel with circulating donor CD34 progenitors and myeloid cells. CONCLUSIONS: Because the graft contained virtually no T and NK cells, we believe the rapid in vivo generation of NK cells supported stable engraftment across the HLA barrier. The differentiation of CD34 progenitors into NK cells might be a distinct feature of megadose stem cell transplants.
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keywords = lyme
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2/128. Chronic sternal wound infection and endocarditis with coxiella burnetii.

    Chronic q fever is most commonly associated with culture-negative endocarditis and less frequently with infection of vascular grafts, infection of aneurysms, hepatitis, pulmonary disease, osteomyelitis, and neurological abnormalities. We report a case of chronic sternal wound infection, polyclonal gammopathy, and mixed cryoglobulinemia in which q fever endocarditis was subsequently diagnosed. polymerase chain reaction analysis of the wound tissue was positive for Coxiella burnetii dna, and treatment of the endocarditis resulted in prompt healing of the wound. Chronic q fever can occur without epidemiological risk factors for C. burnetii exposure and can produce multisystem inflammatory dysfunction, aberrations of the immune system, and persistent wound infections.
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keywords = lyme
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3/128. Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.

    We have investigated the blood cells from a woman with a low degree of chronic nonspherocytic hemolytic anemia and frequent bacterial infections accompanied by icterus and anemia. The activity of glucose 6-phosphate dehydrogenase (G6PD) in her red blood cells (RBCs) was below detection level, and in her leukocytes less than 3% of normal. In cultured skin fibroblasts, G6PD activity was approximately 15% of normal, with 4- to 5-fold increased Michaelis constant (Km) for nadp and for glucose 6-phosphate. Activated neutrophils showed a decreased respiratory burst. family studies showed normal G6PD activity in the RBCs from all family members, including both parents and the 2 daughters of the patient. Sequencing of polymerase chain reaction (PCR)-amplified genomic dna showed a novel, heterozygous 514C-->T mutation, predicting a Pro172-->Ser replacement. Analysis of G6PD rna from the patient's leukocytes and fibroblasts showed only transcripts with the 514C-->T mutation. This was explained by the pattern of X-chromosome inactivation, studied by means of the human androgen receptor (HUMARA) assay, which proved to be skewed in the patient, her mother, and one of the patient's daughters. Thus, the patient has inherited a de novo mutation in G6PD from her father and an X-chromosome inactivation determinant from her mother, causing exclusive expression of the mutated G6PD allele. Purified mutant protein from an escherichia coli expression system showed strongly decreased specific activity, increased Km for nadp and for glucose 6-phosphate, and increased heat lability, which indicates that the defective phenotype is due to 2 synergistic molecular dysfunctions: decreased catalytic efficiency and protein instability.
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4/128. ceroid enteropathy and vitamin e deficiency.

    ceroid (polymerised peroxidised polyunsaturated fatty acids) deposition in the intestine is a result of chronic malabsorption and vitamin e deficiency. This gives the bowel a striking brown colour. Three patients are described with this condition. The macroscopic and microscopic appearances were similar, but the cause of the malabsorption differed. In one patient with polyarteritis there was regression of the pigments with improvement of the malabsorption after treatment with prednisone.
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keywords = lyme
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5/128. Chronic interstitial lung disease due to Epstein-Barr virus infection in two infants.

    This case study reports on two infants, 5 and 6 months of age, respectively, with chronic interstitial lung disease who presented with failure to thrive, tachypnoea, rales and mild hypoxaemia. Epstein-Barr virus (EBV) was detected by in situ hybridization in lung biopsy specimens and by EBV-deoxyribonucleic acid-polymerase chain reaction (PCR) in bronchoalveolar lavage (BAL) fluid in one patient and by in situ hybridization and PCR analysis in BAL fluid in the second patient. There was serological evidence of immunoglobulin g antibodies to EBV capsid antigen by indirect immunofluorescence in both patients. After 7 months of respiratory symptoms one patient was successfully treated with a 10 day course of intravenous ganciclovir followed by oral acyclovir for 20 days. The other patient became symptom free after 3.5 months of respiratory symptoms, without any specific antiviral medication. During a follow-up of 2 and 1.5 yrs, respectively, both infants remained symptom free and showed normal physical development.
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keywords = lyme
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6/128. Chronic neuroborreliosis in infancy.

    lyme disease is a polymorphic and multisystemic disease caused by borrelia burgdorferi. Neurological manifestations are found in 10%-50% of cases. We present 2 cases followed for 5 and 6 years of chronic relapsing-remitting neuroborreliosis. diagnosis of neuroborreliosis in these cases was based on serum and cerebrospinal fluid findings. We discuss clinical, neurophysiological, laboratory and instrumental aspects regarding the difficulties of reaching a correct diagnosis. Further studies, especially in the field of immunology, should help identify the mechanisms responsible for the disease becoming chronic. With this knowledge, it may be possible to design immunological therapies for relapses, and to prevent the evolution of the disease.
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ranking = 73.316508623302
keywords = burgdorferi
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7/128. Chronic parvovirus B-19 meningoencephalitis with additional detection of Epstein-Barr virus dna in the cerebrospinal fluid of an immunocompetent patient.

    parvovirus B19 dna was detected by polymerase chain reaction in the brain biopsy specimen from a 67-year-old immunocompetent woman with severe chronic lymphocytic meningoencephalitis. In addition to parvovirus B19, Epstein-Barr virus dna was identified in the CSF. Genomic material from Epstein-Barr virus was absent in the brain tissue. Clinical symptoms and CSF pleocytosis improved under long-term corticosteroid-treatment. The aetio-pathogenetic role of parvovirus B19 and the possible meaning of the additionally detected Epstein-Barr virus dna are discussed.
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keywords = lyme
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8/128. Chronic autoimmune thrombopenia/neutropenia in a boy with persistent parvovirus B19 infection.

    OBJECTIVE: We report an 11-year-old boy presenting with splenomegaly, chronic thrombocytopenia and concordant neutropenia. RESULTS: In contrast to autoantibodies against platelets, there were no detectable neutrophil-specific autoantibodies present in this patient. Extensive serologic investigations revealed increased IgM- and IgG-antibody titers against parvovirus B19. A nested polymerase chain reaction (PCR) showed parvovirus B19-specific sequences in the patient's bone-marrow cells but not in the serum. Specific antibodies against the structural proteins VP1 and VP2 in addition to those against non-structural protein NS1 of parvovirus B19 were detected by Western blot analysis. thrombocytopenia and neutropenia responded to immunosuppressive therapy and subsequent splenectomy, the latter being necessary due to severe side-effects of steroid medication. CONCLUSION: Autoimmune thrombocytopenia/neutropenia may have been triggered and/or sustained by a chronic parvovirus B19 infection. patients with this very rare disorder should be screened for this virus.
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keywords = lyme
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9/128. Chronic cystitis caused by corynebacterium urealyticum detected by polymerase chain reaction.

    The case of a 73-year-old man with chronic cystitis due to corynebacterium urealyticum was complicated by hematuria and urinary stone formation. The diagnosis was based on an amplification product obtained using polymerase chain reaction for mycobacterial species on urine and a bladder biopsy specimen. A specific 212 bp amplification fragment that did not hybridize with a mycobacterium-specific probe was recognized. sequence analysis of the fragment revealed corynebacterium urealyticum. Routine urine cultures were negative, but prolonged culture on sheep blood agar led to the isolation and identification of corynebacterium urealyticum. Identification was confirmed by polymerase chain reaction on the colonies. The patient was treated successfully with vancomycin. Integration of molecular laboratory diagnostics with conventional microbiology and pathology was synergistic for the diagnosis.
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keywords = lyme
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10/128. Chronic diarrhea as a result of intestinal microsposidiosis in a liver transplant recipient.

    BACKGROUNDS: microsporidia are common pathogens among patients infected with human immunodeficiency virus. They account for a substantial proportion of chronic diarrhea and malabsorption in acquired immune deficiency syndrome, but their appearance after solid organ transplantation has only rarely been reported. methods. We report what we believe is the first case of documented enterocytozoon bieneusi infection in a liver transplant recipient. Results. Our patient presented with chronic diarrhea and colicky abdominal pain. Although symptoms were severe, only mild microscopical mucosal changes were found in the intestinal tract. A modified trichrome stain of stool specimens revealed microsporidial spores, and species differentiation by restriction fragment length polymorphism polymerase chain reaction identified enterocytozoon bieneusi. albendazole therapy brought symptomatic relief but no microbiological clearance. CONCLUSIONS: enterocytozoon bieneusi may cause chronic diarrhea not only in immunosuppression as a result of human immunodeficiency virus infection but also among patients with therapeutic immunosuppression after organ transplantation. Therefore, microsporidial infection should be considered in immunosuppressed patients with otherwise unexplained diarrhea.
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keywords = lyme
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