Bordetella holmesii in children suspected of pertussis in Argentina.

We describe nine patients (eight aged <1 year) clinically diagnosed with pertussis yet laboratory-confirmed with Bordetella holmesii infections, a human pathogen normally isolated from blood. Most patients reported cough and cold symptoms. No death was reported. We report B. holmesii isolation in infants with respiratory symptoms in Argentina.

Autologous peripheral blood stem cell transplantation in acute myeloblastic leukaemia and myelodysplastic syndrome patients: evaluation of tumour cell contamination of leukaphereses by cytogenetic and molecular methods.

We evaluated 18 acute myeloblastic leukaemia (AML) and myelodysplastic syndrome (MDS) patients with abnormal karyotype at diagnosis who underwent peripheral blood stem cell (PBSC) transplantation. To evaluate the presence of residual tumour cells, bone marrow (BM) samples and PBSC collections were analysed by cytogenetics and in selected cases also by fluorescence in situ hybridisation (FISH) and molecular studies. All patients were considered to be in morphologic and cytogenetic complete remission (CR) at the time of mobilisation. Seven patients showed neoplastic cells in PBSC harvest and/or BM specimen before reinfusion. Cytogenetic studies revealed contamination in apheretic collections in one patient only, while three patients had BM but not PBSC contamination. Three more patients had leukaemic cells both in the BM and PBSC. All but one (with only BM contamination) of these patients relapsed within 9 months. However, five more patients relapsed after transplantation: in four cases there was no cytogenetic sign of contamination either in PBSC or BM cells and in one case no molecular evidence was revealed either. This study suggests that, whereas the presence of leukaemic cells in autologous grafts correlates with a poor prognosis, the lack of detection of tumour cells is not always predictive of long-term disease-free survival. More importantly, PBSC collections from AML patients are not contaminated by leukaemic cells if the BM is disease-free.

Detection of specific antibodies against West Nile and Usutu viruses in healthy blood donors in northern Italy, 2010-2011.

Neutralizing antibodies against West Nile (WNV) and Usutu (USUV) viruses were measured in 6000 samples collected, between 1 September 2010 and 30 June 2011, from blood donors living in different districts of Emilia-Romagna, northeastern Italy. On the basis of the microneutralization assay (MNTA), 47 (0.78%) subjects were positive for WNV and 14 (0.23%) for USUV. These results were compared with those obtained 2 years ago and suggest an increased circulation of USUV among humans in Emilia-Romagna.

[Gerstmann-Sträussler-Scheinker syndrome in a Sicilian patient. Neuropathological aspects]. / Sindrome di Gerstmann-Sträussler-Scheinker in un soggetto siciliano. Aspetti neuropatologici.

A case of Gerstmann-Sträussler-Scheinker syndrome observed in a 54 year-old woman is reported. The disease lasted over 4 years and was mainly characterized by ataxia and progressive dementia. The patient belongs to a Sicilian family and some of her relatives have been (or still are) affected by similar clinical syndromes. The neuropathological investigation disclosed an impressive number of PAS-positive amyloid deposits (plaques) in the cortex of the cerebrum and in particular of the cerebellum, in the basal ganglia and thalami as well. These plaques were of different size and morphology: multicentric and Kuru-like, cotton-wool and Alzheimer-like, compact and punctate. In some of them, remnants of dystrophic neurites were detected with ubiquitin-reaction and with the metallic method of Gallyas. No reactions were observed with tau-protein, GFAP and Campbell's method. The immunohistochemical investigations for prion-protein, kindly performed by Prof. Kretzschmar (Goettingen) confirmed that the plaques did not contain beta-protein A4, but reacted positively with anti-prion-protein. These results confirmed the diagnosis of GSS syndrome. The importance on an exact neuropathological investigation employing immunohistochemical reactions and metallic methods in every case of progressive degenerative encephalopathy with PAS-positive (amyloid) deposits (dementia of Alzheimer type, suspected Prion-encephalopathies, etc.) is emphasized. Potential infectivity of the tissue in prion-encephalopathies is deactivated soaking the blocks for histology in formic acid (95-100%) for one hour, followed by formalin for at least three days. Moreover the pretreatment with formic acid does enhance the positivity of PAS-reaction.

3q21 and 3q26 cytogenetic abnormalities in acute myeloblastic leukemia: biological and clinical features.

BACKGROUND AND OBJECTIVE: Acute myeloblastic leukemia (AML) with features of myelodysplastic syndrome (MDS) and abnormalities of megakaryocytopoiesis is often characterized by cytogenetic aberrations of the 3q21 and 3q26 bands involving inv(3)(q21q26) and (3;3)(q21;q26). These aberrations have been described in all FAB subtypes with the exception of M3, and in MDS and in megakaryoblastic crisis of chronic myeloid leukemia. We reviewed the biological and clinical features of 10 cases of AML with inv(3)(q21q26) and t(3;3)(q21;q26). DESIGN AND METHODS: Four hundred and sixteen patients with AML were studied in our Institute by cytogenetic analysis and 10 (2.4%) showed inv(3)(q21q26) (7 patients) or t(3;3)(q21;q26) (3 patients): 7 males, 3 females; median age, 43.5 yrs. We also used RT-PCR to investigate the pattern of expression of the EVI-1 gene in 5 patients. RESULTS: Additional chromosomal changes were demonstrated in 6 patients. In 5/10 cases a preceding MDS had been observed. A possible occupational exposure was established in 2 patients (a farmer and an histologist employing organic solvents) and another patient had a therapy-related leukemia. AML subtype was M1 in 9 patients and M2 in 1. A variable excess of micromegakaryocytes was observed in all the patients. In 5 patients the platelet count was normal or increased (median number: 172. 5x10(9)/L; range 55-440). Expression of EVI-1 gene was present in all the 5 patients studied. The clinical course and outcome was extremely poor: 9/10 patients were resistant and 1 patient showed a partial remission after induction therapy. Of the 9 patients resistant to the first line chemotherapy, 7 were also resistant to the second line chemotherapy. Three patients obtained a morphologic complete remission after third line chemotherapy (duration 1, 3 and 6 months); 2 of them were submitted to autologous bone marrow transplantation, but relapsed after 1 and 3 months. The median overall survival was 5.5 months. INTERPRETATION AND CONCLUSIONS: Our findings evidence a strong correlation between 3q21q26 chromosomal aberrations, abnormalities of megakaryocytopoiesis and lack of response to conventional chemotherapy and support the diagnostic and prognostic relevance of chromosome characterization in the classification of AML.