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1/26. Polymorphic light eruption occurring in common variable hypogammaglobulinaemia, and resolving with intravenous immunoglobulin therapy.

    A 55-year-old woman with a past history of lower respiratory tract infections presented with a photosensitive eruption. Polymorphic light eruption (PLE) was diagnosed on the basis of the temporal relationship to sun exposure and the diagnosis was supported by positive monochromator irradiation tests in the ultraviolet A wavelength spectrum. Investigation of the patient's immune status identified low levels of all immunoglobulin (Ig) subtypes consistent with common variable hypogammaglobulinaemia. Intravenous Ig replacement therapy, instituted to minimize risks from bacterial infections, was commenced and over the ensuing months resulted in a complete resolution of the PLE. PLE is considered to represent a type IV hypersensitivity reaction directed against a cutaneous autoantigen induced by exposure to ultraviolet light. In PLE, nonspecific immunomodulatory mechanisms of intravenous Ig may be active, such as a reduction in the synthesis of cytokines and a blockage of the IgG Fc receptors on macrophages.
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2/26. Aspergillus laryngotracheobronchial infection in a 6-year-old girl following bone marrow transplantation.

    Localised fungal infection of the larynx and tracheobronchial tree is extremely uncommon. We report the case of a 6-year-old girl with acute lymphocytic leukaemia, who developed symptoms of upper airways obstruction 6 months after a cord blood transplant. bronchoscopy showed a pale plaque lesion in the larynx and tracheobronchial tree. aspergillus fumigatus was cultured from a biopsy of the lesion. The patient was treated successfully with a prolonged course of amphotericin b and assessed with multiple surveillance bronchoscopies.
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ranking = 0.028436067028037
keywords = bone
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3/26. Idiopathic severe pulmonary hypertension in an infant with pulmonary infection.

    We report a 5-month-old infant who showed typical echocardiographic findings of primary pulmonary hypertension without the typical histopathological findings and who recovered from severe pulmonary hypertension. Histopathological findings revealed mild thickening of small pulmonary arteries and activated macrophages in the lung. Some cases with idiopathic severe pulmonary hypertension in infants are associated with pulmonary infection.
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4/26. Speechless after bone marrow transplantation: a rare complication of parainfluenza virus related group in an adult.

    Upper respiratory tract (URT) viral infections may cause severe consequences during myeloablative bone marrow transplantation (BMT). We present a patient with parainfluenza virus (PIV) infection during the course of BMT. He remained relatively asymptomatic during the course of cytopenia, but presented with complete loss of voice and severe laryngitis a few days after engraftment, which is not usual for adult PIV infections. Seroconversion to PIV and marked increase in antibody titres was demonstrated, with complete lymphoid engraftment. Our case illustrated that the virulence of some URT viral infections depend on host immune factors, and may remain latent until graft versus host responses can be mounted.
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ranking = 0.035545083785046
keywords = bone
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5/26. osteomyelitis at the injection site of adrenalin through an intraosseous needle in a 3-month-old infant.

    Intraosseous (IO) puncture is considered for the administration of drugs and fluids when vascular access cannot be achieved rapidly. Adrenaline/epinephrine, adenosine, crystalloids, colloids and blood products can be applied and administered effectively using this route during resuscitation of children. This technique is relatively simple with complications of <1%. These may include tibial fracture, lower extremity compartment syndrome and osteomyelitis. A case is described in which a 3-month-old male infant presented for emergency resuscitation requiring IO infusion utilising both tibial bones. High doses of adrenaline (1:1000; 0.1 mg/kg) were administered in the right tibial epiphysis only after the standard initial concentration (1:10000; 0.01 mg/kg) had minimal effect. A local inflammatory reaction was noted 24 h later in the right tibial region, which developed into cutaneous necrosis, and was eventually resected. Radiologically, no osseous lesion could be demonstrated, however, a bone scintigram revealed osteomyelitis. Upon surgical revision, purulent destruction was evident requiring removal of the epiphysis and part of the metaphysis. Although osteomyelitis is a rare complication which may be caused by sepsis, or contamination during insertion, we speculate that adrenaline in high concentrations may promote the development of osteomyelitis and the drug should be applied cautiously in more diluted concentrations.
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ranking = 0.014218033514018
keywords = bone
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6/26. Extramedullary hematopoiesis in hereditary spherocytosis deficient in ankyrin: a case report.

    Hereditary spherocytosis (HS) is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production. The preferred sites of extramedullary hematopoietic involvement are the spleen, liver, and lymph nodes, but in HS the posterior paravertebral mediastinum is also commonly involved. A nonsplenectomized 74-year-old man with mild HS, with primary deficiency in ankyrin, was found by magnetic resonance imaging to have thoracic paravertebral hematopoietic masses. The patient showed high serum levels of erythropoietin, which may have played a role in the development of extramedullary hematopoietic masses through a continuous hematopoietic stimulus to erythroid cells in the propositus. The long-standing history of respiratory infections and of hypoxia in the propositus may have been an additional etiological factor.
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ranking = 0.0071090167570092
keywords = bone
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7/26. Clinico-pathologic conference: 18-month old boy with fever and severe respiratory infection.

    An 18-month-old boy with severe combined immunodeficiency (SCID) due to an IL2-y-receptor defect had a successful engraftment following a related mismatched allogenic bone transplant. He subsequently developed post-transplantation lymphoproliferative disorder, with severe respiratory infection which resulted in death. The case presentation is followed by a discussion with differential diagnosis of the clinical findings, and then by a discussion of the pathology found and the implications of this diagnosis.
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ranking = 0.0071090167570092
keywords = bone
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8/26. Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin.

    dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticulate skin pigmentation, nail dystrophy, mucosal leucoplakia, and bone marrow failure. pancytopenia is difficult to manage in patients with this disorder. We describe a 13-month-old-boy who presented with reticulate skin lesions, paleness, and hepatosplenomegaly. anemia and leukopenia developed by the age of 43 months. The patient was treated with granulocyte-macrophage colony-stimulating factor (GM-CSF) (5 microg/kg/d, subcutaneously) for 19 months and erythropoietin (150 U/kg 3 days in a week, subcutaneously) for 8 months, with excellent neutrophil and hemoglobin response. Recurrent infections were not developed after starting GM-CSF, and packed red blood cell transfusion was not given to the patient after starting erythropoietin. GM-CSF combined with erythropoietin may be used in the treatment of bone marrow failure in patients with DC without an HLA-identical donor.
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ranking = 5.014218033514
keywords = macrophage, bone
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9/26. Parainfluenza virus respiratory infection after bone marrow transplantation.

    BACKGROUND. pneumonia complicates about half of all bone marrow transplantations, and in about a third of the cases no specific cause is identified. Although parainfluenza virus is a common cause of respiratory infection in normal children, its role in transplant recipients is unknown. methods. We describe the incidence and clinical course of parainfluenza infection among the 1253 recipients of bone marrow transplants at our center from 1974 through 1990. We performed viral cultures on all such recipients who had manifestations of a viral infection or fever without apparent cause. RESULTS. Among the 1253 patients, we found 27 (2.2 percent) who had parainfluenza virus infection as demonstrated by culture (12 of 580 adults and 15 of 673 children). Eight of these patients had only upper respiratory tract involvement, all of whom had positive nasopharyngeal cultures. Of the remaining 19, 8 had symptoms of both upper and lower respiratory tract involvement, and 11 had only lower respiratory involvement, of whom only 6 had positive nasopharyngeal cultures. Four required bronchoalveolar lavage for diagnosis. A median of nine days elapsed from the onset of symptoms until the culture became positive, and overall only 33 of 118 cultures obtained were positive. Respiratory failure developed in 6 of the 19 patients with lower respiratory tract involvement, and all died. CONCLUSIONS. Parainfluenza virus is a cause of serious lower respiratory tract involvement in both adults and children who undergo bone marrow transplantation. Given the insensitivity of current culturing techniques, it may be underdiagnosed.
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ranking = 0.049763117299064
keywords = bone
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10/26. Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report.

    I-cell disease or mucolipidosis type II, a rare inherited storage disorder of lysosomal enzyme localization, is characterized by dysostosis multiplex, progressive severe psychomotor retardation and death by 5-8 years from congestive heart failure and recurrent pulmonary infections. A 19-month old girl with I-cell disease received a bone marrow transplant (BMT) from an HLA-identical carrier brother. At the age of 7 years, 5 years after BMT, she has no history of respiratory infections. Her cardiac function remains normal with a shortening fraction of 47%, and she continues to gain neurodevelopmental milestones, albeit at a very slow rate. Musculoskeletal deformities have worsened despite BMT. This is the first report describing neurodevelopmental gains and prevention of cardiopulmonary complications in I-cell disease after BMT.
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ranking = 0.0071090167570092
keywords = bone
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