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D Canioni

Publications and source records attributed to D Canioni.

At least 37 records · Page 2Linked to original sources
PubMed1998

t(3;17)(q21;q25) in Epstein-Barr virus associated peripheral T-cell lymphoma: a paediatric case.

We describe an immunocompetent 8-year-old boy with a serological profile indicating chronic infection by Epstein-Barr virus (EBV) who developed subcutaneous and pulmonary lesions related to a peripheral T-cell proliferation. No clonal rearrangement of T-cell receptor or immunoglobulin genes was seen. However, the finding of a t(3;17)(q21;q25) in 44 metaphases from one skin lesion demonstrated a clonal origin. We also showed that the proliferative T cells contained EBV genome leading to the diagnosis of EBV-associated peripheral T-cell lymphoma. Further cytogenetic and molecular studies are needed to identify genes implicated in the pathogenesis of this haematological malignancy.

Child↗
PubMed1998

Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.

BACKGROUND: The syndrome of intractable diarrhoea of infancy is heterogeneous and includes several diseases with diverse aetiologies. This study determines whether diagnostic categories can be defined on the basis of clinicopathological analysis. METHODS: European Society of Paediatric Gastroenterology, Hepatology and Nutrition members were surveyed to identify cases of intractable diarrhoea with persisting small intestinal enteropathy. A retrospective clinicopathological analysis was performed on cases showing life-threatening diarrhoea within the first 24 mo of life and requiring total parenteral nutrition, which were characterized by persistent villous atrophy, and resistance to therapy. RESULTS: Forty-seven infants were identified with intractable diarrhoea. Villous atrophy was of varying degrees with (group I, n = 24) or without (group II, n = 18) lamina propria mononuclear cell infiltration. Group I presented later, had gut autoantibodies, and a higher prevalence of protein-losing enteropathy; a subset (group Ia, n = 12) also had extraintestinal symptoms of autoimmunity associated with a later onset of larger volume diarrhoea. Group II presented early; 8 cases (group IIa) had phenotypic abnormalities and a low birth weight; the remaining 10 (group IIb) showed mild-to-moderate villous atrophy, epithelial tufting, and abnormal crypts. Group III included five patients in whom no specific features were recognised. Twenty-one (45%) died at a median age of 24 months, 20 (43%) remained dependent on parenteral (n = 16) or enteral tube (n = 4) feeding, 4 (9%) received elimination diets plus other therapies, and 2 (4%) were lost to follow-up. CONCLUSIONS: Clinicopathological analysis allowed distinct disease groups to be identified, allowing a provisional classification to be made. This straightforward approach forms a basis for future research in this exceptionally difficult paediatric condition.

Atrophy↗
PubMed1997

Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy).

BACKGROUND & AIMS: Intestinal epithelial dysplasia, or tufting enteropathy, is a newly described clinicopathologic entity with refractory diarrhea in infants. Histological abnormalities include villous atrophy, disorganization of the surface epithelium, and basement membrane abnormalities. The aim of this study was to examine defects in intestinal epithelial cell adhesion, differentiation, or proliferation in the pathogenesis of epithelial dysplasia. METHODS: Histological, immunohistochemical, and ultrastructural characteristics of epithelial dysplasia in a group of 6 children were compared with those groups with normal small bowel and other villous atrophy (celiac sprue and microvillous inclusion disease). Distribution of adhesion molecules, markers of cell polarization and proliferation, and the phenotype of intraepithelial lymphocytes were determined. RESULTS: Alterations suggestive of abnormal cell-cell and cell-matrix interactions were present in patients with epithelial dysplasia. They included abnormal distribution of alpha 2 beta 1 integrin along the crypt-villus axis, increased immunohistochemical expression of desmoglein, and ultrastructural changes of desmosomes increased in length and number. No evidence for abnormalities in epithelial cell polarization, proliferation, or T-cell activation was found. CONCLUSIONS: This study strongly suggests a role played by alterations of cell-cell and cell-matrix interactions in the pathogenesis of epithelial dysplasia.

Antigens, Differentiation↗
PubMed1997

Detection of donor-derived Langerhans cells in MHC class II immunodeficient patients after allogeneic bone marrow transplantation.

T-cell dependent immune response is initiated by dendritic cells, which are the only leucocytes able to prime naive CD4-positive T cells. Langerhans cells (LC) are dendritic cells characterized by their localization within the epidermis, their dendritic shape, and their expression of specific markers such as major histocompatibility complex (MHC) class II molecules, CD1a and S100 protein. We retrospectively studied the phenotype of LC in the skin of eight children with MHC class II deficiency (bare lymphocyte syndrome) after allogeneic bone marrow transplantation (BMT). The presence of donor-derived MHC class II positive LC within the epidermis was studied by immunohistochemistry on skin biopsies performed for the determination of graft-versus-host disease. MHC class II positive LC were undetectable in the epidermis of a child who did not engraft and of three children 13-18 d after HLA-mismatched BMT, despite engraftment. However, donor-derived MHC class II positive LC were detected in four children 9-43 d after HLA-identical BMT. Our results demonstrate that LC can differentiate or expand very quickly, as early as within 9 d after BMT.

Biopsy↗
PubMed1997

Histopathology and microbiology of isolated rectal bleeding in neonates: the so-called 'ecchymotic colitis'.

Rectal bleeding in neonates is an alarming event which suggests a possible necrotizing enterocolitis (NEC) but is usually the only symptom of an unexplained colitis characterized endoscopically by ecchymotic mucosal lesions, the so-called 'ecchymotic colitis' (EC). We studied histologically and bacteriologically 18 infants (mean age: 18 days) presenting with rectal bleeding by systematic rectosigmoidoscopy and intestinal biopsies. The 18 infants were hospitalized. Prematurity was found in seven cases and an underlying condition in 14 cases (respiratory distress: six cases; infection: six cases; surgery: two cases). Histology showed a mild to moderate inflammation (10/12) of the mucosa with a prevalence of polymorphonuclear cells (8/10), frequent focal haemorrhages (11/12) and foci of pneumatosis (4/12). Numerous bacteria were seen in the mucus layer focally forming large clusters. Cultures of intestinal biopsies yielded exclusively Enterobacteriaceae species: Escherichia coli (seven cases), Klebsiella spp. (seven cases), and Enterobacter cloacae (three cases); four cases were sterile. Our study demonstrates that neonatal bleeding is associated with endoscopic and histological 'ecchymotic colitis' lesions and with a peculiar microbial flora of EBC strains. EC and necrotizing enterocolitis share similar features raising the question of the link between the two syndromes.

Biopsy↗
PubMed1997

Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency.

Mycobacterium smegmatis is a common environmental mycobacterium that was first identified in 1884, yet is a rare pathogen in humans. The few M. smegmatis infections reported to date have been localized and have occurred in association with a primary lesion in otherwise immunocompetent individuals. To our knowledge, no case of disseminated M. smegmatis infection has ever been reported, even in patients with severe immune deficiencies. We report a case of disseminated mycobacterial infection that was diagnosed in a 3-year-old girl. The pathogen was not identified as M. smegmatis until the patient was 6 years old. Her condition gradually worsened, and she died when she was 8 years old despite appropriate antimycobacterial therapy. No other opportunistic infections were documented. Immunological investigations revealed an inherited interferon gamma receptor 1 deficiency. This report identifies M. smegmatis as a new opportunistic agent that may be responsible for disseminated disease in immunocompromised individuals.

Bacteremia↗
PubMed1996

A familial T-cell lymphoma with gamma delta phenotype and an original location. Possible role of chronic Epstein-Barr virus infection.

BACKGROUND: We describe a familial lymphoproliferative syndrome associated with Epstein-Barr Virus (EBV) infection and the gamma delta phenotype. METHODS: We reviewed clinical, pathologic, immunologic, and virologic findings in a nonconsanguineous French family, collected over a 13-year period. Specimens from the father (autopsy), son (liver, lymph nodes, and pericardial effusion), and daughter (skin, liver, and digestive tract) were studied with conventional histologic and immunohistochemical techniques. Anti-EBV latent membrane protein (LMP) antibody and T-cell receptor (TCR) gene rearrangements were also studied in the daughter. RESULTS: The father and daughter had similar clinical and histologic features with maxilofacial, nasal, laryngeal, skin, lung, gastrointestinal, and liver involvement by a high grade large cell angiocentric T-cell lymphoma. The gamma delta phenotype and clonal rearrangement were identified in the daughter's tumor. At the time of his death from pericarditis, the son had a 5-year history of a recurrent hemophagocytic syndrome and lymphadenopathy. Chronic EBV infection was found in each case. EBV infection of the son was diagnosed by means of serologic tests and detection of the EBV genome in circulating lymphocytes, and in the father and daughter by use of an anti-LMP antibody. Its pathologic role is discussed. CONCLUSION: This familial T-cell lymphoma syndrome associated with the gamma delta phenotype and an unusual location is an original clinical entity. Chronic EBV infection was present in each case, but its precise role remains to be determined.

Adult↗
PubMed1996

Digestive tract involvement in Langerhans cell histiocytosis. The French Langerhans Cell Histiocytosis Study Group.

BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare disease with a wide clinical spectrum. Although little is known of gastrointestinal involvement in LCH, it may be a major clinical problem. We investigated clinical, pathologic, and immunohistochemical features of digestive tract LCH involvement in children. PATIENTS: Selection criteria consisted of the presence of LCH with digestive symptoms, and histologic confirmation of gastrointestinal involvement. Seven children (2%) met the criteria among 348 cases of LCH in a French national retrospective survey from 1983 to 1993. Two children whose LCH was diagnosed in 1994 were also selected. RESULTS: Nine children with LCH and digestive tract involvement were studied. Clinical features at presentation included skin (9/9) and mucosal (4/9) involvement, failure to thrive (5/9), diarrhea (7/9), bloody stools (4/7), vomiting (4/9), and hypoalbuminemia (8/9). Five of the nine children died; factors associated with a poor prognosis included young age, organ dysfunction (stage 4), and need for parenteral nutrition. Unlike control biopsy specimens, LCH cells of children with digestive tract involvement disclosed expression of the mucosal homing receptor integrin alpha 4 beta 7 on frozen skin and digestive tract biopsy specimens. CONCLUSION: Cutaneous, mucosal, and digestive tract involvement in LCH is a clinicopathologic entity. The prognosis and treatment of LCH depend on the extent of the disease; therefore the treatment of these disseminated forms should not be delayed. Thus children with cutaneous LCH and digestive symptoms should undergo digestive tract biopsies. Studies of homing receptors may contribute to our understanding of the mechanisms of dissemination in LCH.

Biopsy↗
PubMed1996

Skin lesions revealing neonatal acute leukemias with monocytic differentiation. A report of 3 cases.

Acute myelo-monoblastic (AMML) and acute monoblastic (AML) leukemias have a bad prognosis, especially in children when occurring in the first months of life. We report 3 cases of such leukaemias in which skin lesions preceded and revealed the leukemia. For the 3 infants, cutaneous lesions appeared about one month before the other signs of leukaemia (2 AML and 1 AMML). Skin biopsies from all 3 infants revealed a heavy dermic infiltration by large cells with round or irregular vesicular nuclei and abundant pale cytoplasm. These atypical cells did not express any lymphoid markers but reacted strongly with monocytic-macrophagic antibodies (CD68, CD13 and CD14). Two infants were treated by mitoxanthrone and cytarabine with complete remission. The third one was not treated because of a very poor general status. Skin involvement is frequent in these nonlymphoid leukaemias (30% to 50% of cases). In only 7% of cases, leukemic skin lesions precede and reveal the other signs of leukemia by weeks or months. Then, it is very important to repeat the blood cell counts and to biopsy the skin lesions in order to make a diagnosis of leukemia as early as possible.

Cell Differentiation↗
PubMed1996

Intercellular adhesion molecule-3 on endothelial cells. Expression in tumors but not in inflammatory responses.

Intercellular adhesion molecule-3 (ICAM-3) was identified as the third counter-receptor for lymphocyte function-associated antigen-1. ICAM-3 is absent on endothelial cells in normal tissues but found on endothelial cells in lymphomas. Here, we examined ICAM-3 expression on vascular endothelial cells in lymphomas, nonlymphoid malignancies, benign tumors, and inflammatory diseases. We compared the expression of ICAM-3 on endothelial cells with the severity of inflammatory infiltrates and with the presence of E-selectin and VCAM-1. We found that ICAM-3 expression on endothelial cells was high on both benign and malignant tumors whereas it was low in inflammatory diseases. In contrast to E-selectin, ICAM-3 expression on endothelial cells was not correlated to the severity of inflammatory infiltrates. In hemangiomas, we showed by Northern blot analysis and immunocytochemistry that ICAM-3 expression was induced and that it was localized in immature areas that sustain the early stages of angiogenesis. Therefore, expression of ICAM-3 on blood vessels does not seem to play a role in the recruitment of leukocytes during inflammation but rather is correlated with angiogenesis and tumor development.

Antigens, CD↗
PubMed1995

Detection of clonal CD34+19+ progenitors in bone marrow of BCL2-IgH-positive follicular lymphoma patients.

The frequent occurrence of BCL2-IgH rearrangements in follicular lymphoma (FL) makes detection of low numbers of tumor cells possible by polymerase chain reaction (PCR). The presence of BCL2-IgH in the bone marrow (BM) and peripheral blood of many FL patients at the time of autografting has led to the suggestion that selection of the CD34-enriched fraction may lead to reinfusion of lower numbers of tumor cells. To address this issue, we PCR-amplified BCL2-IgH from fluorescence-activated cell sorting (FACS)-purified BM CD34+ and CD34- fractions in seven FL patients showing a PCR-detectable translocation in the major breakpoint region of BCL2, five of which showed morphological BM involvement. The total CD34+ fraction showed diminished but residual positivity in the first two cases tested. Therefore, BM cells from the remaining five patients were sorted for the CD34+19- immature population, the CD34+19+ B-cell precursors, and the CD34-19+ mature B-cell fraction. The CD34+19- subpopulation was negative in four of five, despite evident BM infiltration in three cases. In contrast, the CD34+19+ fraction was positive in all three cases tested. These cells represented 0% to 50% (mean, 18%) of the total CD34+ population, suggesting that, if reinfusion of BCL2-IgH-positive cells plays a role in postautograft relapse in FL, therapeutic CD34 selection procedures should include additional purging of the CD34+19+ B-cell precursors or, at least, assessment of the proportion of CD19+ cells in the CD34+ fraction and its correlation with clinical outcome postreinfusion.

Adult↗
PubMed1995

Intractable diarrhea of infancy with epithelial and basement membrane abnormalities.

We describe a form of intractable diarrhea in six children (four girls) with similar clinical histories and identical histopathologic features. The children had watery diarrhea of neonatal onset requiring total parenteral nutrition. Two had siblings who had died of diarrhea in the first year of life; two others are sisters. Repeated duodenal or jejunal biopsies revealed villous atrophy with normal or hyperplastic and regenerative cryptae, normal cellularity of the lamina mesenterii propria, and no signs of T-cell activation. The main histologic features are epithelial dysplasia with focal crowding and disorganization of the surface enterocytes, pseudocystic formation of the glands, and abnormal regenerative cryptae. The basement membrane components were studied with polyclonal antibodies on frozen specimens, and were compared with biopsy specimens from patients with celiac disease or autoimmune enteropathy. Relative to the control subjects, there was faint and irregular deposition of laminin at the epithelium-lamina mesenterii propria interface, whereas deposits of heparan sulfate proteoglycan were large and lamellar. The primary or secondary nature of these modifications of the basement membrane remains to be determined, but the modifications might be related to epithelial abnormalities and to the severity of this neonatal diarrhea, which resisted all treatment and necessitated permanent total parenteral nutrition.

Basement Membrane↗