ABSTRACT
Diamond-Blackfan syndrome is a rare bone marrow failure involving the erythropoietic lineage and usually diagnosed in the first year of life. About 80% of cases are sporadic but there are examples of recessive and dominant inheritance. Whether the variable pattern of inheritance observed in pedigrees of Diamond-Blackfan syndrome reflects different genetic determinants of the disease remains uncertain. Family studies with use of the newer tools of molecular biology will produce improved insight into the genetic origin of this disease. A review of pregnancy associated Diamond-Blackfan syndrome indicated an increase in pregnancy complications. It appears that pregnancies are usually well tolerated and can be managed with supportive care and blood transfusions.
Subject(s)
Fanconi Anemia/genetics , Pregnancy Complications, Hematologic , Adrenal Cortex Hormones/therapeutic use , Adult , Blood Transfusion , Fanconi Anemia/drug therapy , Fanconi Anemia/therapy , Female , Humans , Infant, Newborn , Pregnancy , Pregnancy Complications, Hematologic/therapy , Respiratory Distress Syndrome, Newborn/etiologyABSTRACT
The use of high-dose chemotherapy and the subsequent prolonged neutropenia in patients with haematological diseases have resulted in an increased incidence of fungal infections. These infections are associated with a high mortality rate. There are several predisposing factors including broad-spectrum antibiotic, central venous access. Diagnosis remains difficult. Characteristic clinical manifestations are not constant and they appear only after neutrophil recovery. Responsible organisms are infrequently isolated. The use of invasive procedures is far from being justified in patients who suffering usual severe thrombocytopenia. The unique drug with proven efficiency in the treatment of fungal infections is amphotericin B or liposomal amphotericin B. A favourable outcome strongly correlated with complete leukemia remission. We describe our findings in seven leukemic patients with fungal infections.
Subject(s)
Leukemia/complications , Mycoses/etiology , Adolescent , Adult , Amphotericin B/therapeutic use , Antifungal Agents/therapeutic use , Antineoplastic Agents/adverse effects , Antineoplastic Agents/therapeutic use , Child , Female , Humans , Immunocompromised Host , Leukemia/drug therapy , Lung Diseases, Fungal/drug therapy , Lung Diseases, Fungal/epidemiology , Lung Diseases, Fungal/etiology , Male , Middle Aged , Mycoses/drug therapy , Mycoses/epidemiology , Neutropenia/chemically induced , Neutropenia/complications , Retrospective Studies , Thrombocytopenia/chemically induced , Thrombocytopenia/complicationsABSTRACT
BACKGROUND: The aim of the present was to study the cytohistology of the bone marrow in intravenous drug addicts (IVDA) and to analyze the possible differences according to the period of drug addiction. METHODS: A prospective study was performed in 60 IVDA patients previously untreated and distributed into three groups: 20 seronegative for the human immunodeficiency virus (HIV), 20 patients in a phase of generalized adenopathic infection (GAI) and 20 patients with AIDS. RESULTS: Cytohistologic examination of the bone marrow aspirates showed plasmocytosis and eosinophilia in all the groups. Selective changes were seen in the red series in 20% of the HIV negative patients and in 25% of the GAI group. The prevalence of cytologic changes was greater in those with AIDS, with hypocellular bone marrow being observed in 65% of the patients with coexistent dismyelopoietic changes in 15%. Pathologic structure showed granulomatous lesions of tuberculous etiology in 30% of the patients with AIDS while in the HIV negative and GAI groups these were found in 10% and 5%, respectively. A greater presence of fibrosis and bone marrow hypoplasia was also found in the group with AIDS, than in the other two groups. CONCLUSIONS: An increased number of bone marrow changes and progressive bone marrow hypocellularity may be observed on advancement of the clinical stages in intravenous drug addict patients. The incidence of tuberculous granulomas is higher in the AIDS group.
