Hepatitis granulomatosa idiopática con orquiepididimitis bilateral y erupción cutánea / Idiopathic granulomatous hepatitis with bilateral orchiepidydimitis and skin eruption

We report a 52 years old male admitted for fever lasting one month, dry cough, headache and malaise. Initial laboratory work up showed an AST of 172 U/l, and ALT of 252 U/l, a GGT of 353 U/l and alkaline phosphatases of 952 U/l. An abdominal CAT scan disclosed a mild hepatosplenomegaly. A liver biopsy showed a granulomatous hepatitis. During the evolution, the patient had a left testicle swelling with darkening of the surrounding skin. A testicular ultrasound showed a bilateral orchiepidydimitis. The patient was treated with non steroidal anti-inflammatory drugs and fever subsided. Three months later, these drugs were discontinued and the patient remained asymptomatic and with normal laboratory values until 36 months of follow up

Identification of two subgroups of mantle cell leukemia with distinct clinical and biological features.

INTRODUCTION: Mantle cell leukemia (MCLeu) has been considered as a leukemic form of mantle cell lymphoma (MCL). However, the presence of certain features rarely observed in MCL, such as transformation to prolymphocytic leukemia (PLL) or indolent clinical course, suggests that MCLeu may represent a distinct disorder. METHODS: Seven cases of MCLeu with t(11;14)(q13;q32) and BCL1-IGH gene rearrangement were ascertained among 140 newly diagnosed chronic B-cell lymphoproliferative disorders with leukemic expression. Comparative genomic hybridization, FISH for specific gene loci, and immunological studies were preformed in them. RESULTS: In comparison with CLL, MCLeu cases had low immunological scores < or =2 with respect to B-CLL (P<0.0001). Expression of CD38 was absent in 43% of MCLeu and in 44% of B-CLL. Comparative genomic hybridization analysis identified genomic imbalances in 86% of MCLeu with a similar pattern than in MCL: gains of 3q, 8q involving MYC gene and 15q, and losses of 6q, 9p, 13q and 17p affecting P53 gene. Differently from MCL and CLL, genomic loss of 8p was frequently detected in MCLeu (83%). Although clinical presentation of MCLeu was indistinguishable from CLL, all patients but one had disease progression within three years. According to the immunologic and genomic profiles, two distinct subgroups of MCLeu were defined: one related to PLL, showing CD38-, deletion of P53, and MYC amplification and another which corresponds to a leukemic form of classical MCL, presenting with CD38+ and normal P53 and MYC status. CONCLUSION: MCLeu and MCL are closely related disorders, as they show similar genomic and molecular patterns. However, the deletion of the short arm of chromosome 8 may represent a specific marker for MCLeu. Two distinct subgroups of MCLeu may also be distinguished according to the immunologic and genomic cell profiles.

Aggressive natural killer cell leukaemia/lymphoma in two patients with lethal midline granuloma.

We report two patients with leukaemic proliferations of large granular lymphocytes. The immunophenotype study showed that the leukaemic cells were positive for CD2, CD38, CD56 and anti-HLA-DR monoclonal antibodies and negative for other T-cell (CD3, CD4, CD8) and B-cell markers (CD19, CD20 and surface immunoglobulins). The clinical course was acute and a diagnosis of aggressive natural killer cell leukaemia/lymphoma was made. No clonal rearrangements of either C beta T-cell receptor or JH immunoglobulin genes were found. Functional studies done in one patient demonstrated non-restricted cytotoxic activity after activation with IL-2. Lethal midline granuloma had been previously diagnosed in both patients. A possible relationship between this entity and the natural killer cell leukaemia is discussed.

Vitamin B12 transport proteins in patients with HIV-1 infection and AIDS.

BACKGROUND: Low vitamin B12 levels (B12) are often observed in patients infected with human immunodeficiency virus type 1 (HIV-1). The causes underlying this finding are thought to be intestinal malabsorption and/or abnormalities in the vitamin plasma binding proteins (BP). MATERIAL AND METHODS: Serum levels of B12 and BP were studied in eighty HIV-1-positive patients, 55 of whom met the diagnostic criteria for AIDS. Subjects were divided into various subgroups: non-AIDS HIV-1 positive versus AIDS; low serum B12 levels (DB12, < 150 pmol/L) versus normal serum B12 levels (NB12); and the results obtained were compared both between groups and with respect to a reference population (RF) of normal volunteers. RESULTS: Low levels of serum B12 were found in 14 patients (17.5%), without differences between the AIDS and non-AIDS subgroups. The levels of holohaptocorrin (holoHP) were lower in the DB12 group than in the NB12 and RF groups (p < 0.01), and no differences were found between the AIDS and non-AIDS groups. The levels of apotranscobalamin (apoTC) were higher in the AIDS group than in the non-AIDs and RF subjects (p < 0.01), but no differences were found between the DB12 and NB12 groups. Likewise, no differences were noted in the levels of holoTC between the DB12 and NB12 groups. A positive correlation between neutrophil counts and free serum haptocorrin levels (apoHP) (rs = 0.36; p = 0.002), and a negative one between the former and the levels of apoTC (rs = -0.3; p = 0.009) were observed. Furthermore, a positive correlation was detected between the erythrocyte sedimentation rate and the levels of apoHP and TC. CONCLUSIONS: Low serum levels of HP in HIV-1 positive patients could lead to the low levels of serum vitamin B12 frequently observed in this patient population, while the high levels of TC could merely represent a non-specific marker of inflammation (acute phase, reactant).

[Pregnancy and thrombophilia in women with congenital deficit of antithrombin III, protein C, protein S or plasminogen: analysis of 39 cases]. / Embarazo y trombofilia en mujeres con déficit congénito de antitrombina III, proteína C, proteína S o plasminógeno: análisis de 39 caso.

BACKGROUND: Pregnancy, delivery and puerperium are situations which increment the risk of thromboembolic complications in women who are carriers of congenital heterozygotic deficits of type I antithrombin III (ATIII), protein C (PC) or protein S (PS). The aim of this study was to analyze the experience of the authors and propose therapeutic conduct in each case. Furthermore, the spontaneous losses of pregnancy related with these deficits were studied. METHODS: Thirty-nine women, seventeen with ATIII deficit, fifteen with PC deficit and four with a deficit of PS and three with a plasminogen (Pg) deficit totalling 79 pregnancies and 51 thrombotic episodes sixteen of which were related with the pregnancy, delivery or puerperium were studied. The antigenic and functional activity of ATIII, PC, PS and Pg were determined. RESULTS: The incidence of thrombosis for the ATIII deficit during pregnancy was 39%, which was greater, of statistical significance (p = 0.046), than the 15% observed during puerperium. In women with a deficit of PC, the incidence of thrombosis was 4.5% during pregnancy and 14% during puerperium with no significant difference between the two situations. The incidence of thrombosis during pregnancy and postpartum in the deficit of ATIII was significantly higher (p < 0.025) than that observed for the deficit of PC. For women with a deficit of PS and Pg the incidence of thrombosis was nul in pregnancy and puerperium. CONCLUSIONS: Pregnancy and puerperium are situations which trigger thrombotic phenomena and increase the risk of the same in women with a deficit of antithrombin III and protein C and, to a lesser degree, the deficit of protein S or plasminogen. A strict control of these situations and individualized treatment is required according to the type of deficit, presence of previous thromboembolic history and anticoagulant history at the time of pregnancy. No increase in the risk of loss of pregnancy in any of the deficits studied was observed.