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Chronic B–cell leukemias (CLL) are characterised by a striking cytogenetic signature composed of multiple recurrent chromosomal imbalances involving specific chromosomal regions i.e. 13q, 11q, 12q, 17p et 6q (decreasing order of frequency). These chromosomal aberrations may be found in up to 80% of the cases either as isolated or associated anomalies. They can also appear during the course of the disease suggesting their secondary nature. Furthermore, and at variance with other B–cell proliferations like lymphomas or myelomas, balanced translocations involving imunoglobulin (Ig) gene locus are rare.In addition to their interest in patient diagnosis and follow-up, these tumour-specific genetic markers also harbor important prognostic significance : isolated 13q deletions correlate with prolonged survival whereas both 17p and 11q partial deletions are independant predictors of rapid disease progression and short survival times in multivariate analyses.Genetic analyses as well as the first transcriptome studies of CLL reveal 1) a common mechanism of transformation and/or cell of origin, 2) the existence of at least two prognostic subgroups based on Ig mutational status. [Copyright &y& Elsevier]

Résumé: Bien que plus rares aujourd’hui, les thrombopénies induites par l’héparine (TIH) demeurent une complication iatrogène grave qu’il faut savoir reconnaître. Une TIH résulte d’une réponse immune atypique à l’héparine avec la synthèse d’anticorps IgG spécifiques du facteur plaquettaire 4 (FP4) modifié et activant les plaquettes, les leucocytes et l’endothélium. Cette activation explique que la diminution des plaquettes soit associée à une hypercoagulabilité avec des thromboses dans près d’un cas sur deux. Le diagnostic est parfois évoqué par des manifestations cliniques atypiques (nécrose cutanée, hypotension, amnésie ou dyspnée après injection d’héparine). Le dépistage d’une TIH repose sur la surveillance des plaquettes, restreinte avec les héparines de bas poids moléculaire (HBPM) aux malades à risque, après chirurgie cardiaque, vasculaire ou orthopédique notamment, mais étendue à tous les cas traités par héparine non fractionnée (HNF). Le diagnostic doit être confirmé biologiquement même si la présomption clinique est forte. À cet égard, des tests de type Elisa rapides et spécifiques sont désormais disponibles pour la détection des anticorps anti-FP4/héparine. Toutefois, leur spécificité est médiocre et des tests fonctionnels évaluant l’agrégation plaquettaire ou la libération de sérotonine radiomarquée doivent souvent être réalisés. Pour le traitement d’une TIH, l’argatroban (antithrombine directe) est utilisable chez l’insuffisant rénal et sera dans ce cas préféré au danaparoïde sodique (héparinoïde principalement anti-Xa). Le fondaparinux (anti-Xa sélectif), recommandé par certains, est non validé dans cette indication, et ne peut être utilisé qu’en cas de suspicion. La prévention des TIH sera améliorée par la prescription des nouveaux anticoagulants oraux. [ABSTRACT FROM AUTHOR]

Introduction: Although a number of studies look at prevalence, incidence, treatment, mortality and morbidity in relation to hypertension, few have taken into account the effect of residential neighbourhood on these health indicators in the population diagnosed with hypertension., Objectives: The objective of this study was to measure and compare prevalence, mortality, morbidity, use of medical resources and treatments in relation to the level of material and social deprivation of the area of residence, in a population with a diagnosis of hypertension in primary prevention for cardiovascular disease (CVD) in Quebec in 2006-2007., Methods: This study is based on a secondary analysis of the medical administrative data of the Quebec health insurance board, the Régie de l'assurance maladie du Québec, for a cohort of 276 793 patients aged 30 years or older who had been diagnosed with hypertension in 2006 or 2007, but who did not have a known diagnosis of CVD. The health indicators adjusted for age and sex are prevalence, death, a cardiovascular event, physician visits, emergency department visits and use of antihypertensives. Twenty-five types of areas of residence were obtained by crossing the material and social deprivation quintiles., Results: Compared with patients living in materially and socially advantaged areas, those living in deprived areas were at 46% higher risk of a cardiovascular event, 47% higher risk of being frequent emergency department visitors and 31% higher risk of being frequent users of a general practitioner's services, but 25% lower risk of being frequent users of medical specialists' services. Little or no variation was observed in the use of antihypertensives., Conclusion: This study reveals the existence, in a CVD primary prevention context, of large variations in a number of health indicators among hypertensive patients owing to the material and social deprivation of residential neighbourhood. It is therefore important to take the socioeconomic context into account when planning interventions to prevent CVDs and their consequences.

Despite less frequent, heparin-induced thrombocytopenia (HIT) remains a severe complication of treatment with heparin, and is important to diagnose and manage appropriately. HIT results from an atypical immune response to heparin, with the synthesis of IgG antibodies specific to heparin-modified platelet factor 4 (PF4) which activate platelets, leukocytes and the endothelium. This activation explains that low platelet count is associated with thrombotic events in 50% of patients. The diagnosis of HIT is sometimes evoked because of atypical manifestations (i.e. cutaneous necrosis, amnesia, hypotension or dyspnea following intravenous injection of heparin). Biological assays are always necessary to confirm HIT in case of clinical suspicion, and specific rapid tests are now available for detecting anti-PF4 antibodies. However, their specificity is poor and functional assays such as serotonin release assay or platelet aggregation test are often necessary. Argatroban that is a direct antithrombin drug can be used in patients with severe renal failure and will be preferred to danaparoid sodium in this situation. Fondaparinux is not licensed for treating confirmed HIT and can only be used in case of suspicion. The early detection of HIT is based on the monitoring of platelet count recommended in surgical patients receiving a low molecular weight heparin and in all patients treated with unfractionated heparin., (Copyright © 2013. Published by Elsevier SAS.)

Background: Cutaneous melanoma is a complex disease involving genetic and environmental factors. Levodopa has been incriminated in the development and/or progression of melanoma., Observation: We report the case of a man treated with levodopa and a dopadecarboxylase inhibitor for Parkinson's disease and presenting 22 cutaneous melanomas over a 4-year period. The patient is of phototype II and presents multiple nevi. Genetic analysis of predisposing genes demonstrated a CDKN2A mutation with loss of p16 activity., Discussion: Multiple melanomas may be associated with genetic predisposition, and screening for the latter should be performed. The exceptionally high number of melanomas developed by our patient raised suspicions about levodopa, a precursor in melanin synthesis, as a potential inducer. Increased dermatologic controls and screening for predisposing genetic factors appear to us to be warranted in the event of melanoma development in patients on levodopa.

Unlabelled: Bloom syndrome is characterized by growth failure, skin anomalies with sun sensitivity, minor anatomic defects, excessive chromosomic fragility and usually severe immune deficiency. The chromosome fragility predisposes these children to the development of hematologic malignancies and solid tumors., Case Report: Morgan, a 4-year-old boy with Bloom syndrome, developed a Wilms tumor. Chemotherapy was poorly tolerated. Two years later, the child died from an uncontrolled progressive disease., Conclusion: This is the fourth reported case of Wilms tumor occurring in a child with Bloom syndrome. This possibility requires repeated abdominal ultrasonography in such patients.

A biphasic synovial sarcoma occurring in the anterior and inferior mediastinum in a 19-year-old woman is reported. A biopsy showed a mesenchymal proliferation and the tumor was first misdiagnosed as a hemangiopericytoma. Inefficacy of chemotherapy led to a tumorectomy. Histologic and immunohistochemical studies on multiple samples showed a biphasic tumor. Ultrastructural study confirmed the presence of epithelial elements and cytogenetic analysis disclosed a translocation t(X;18) (p11;q11), leading to a diagnosis of synovial sarcoma. Synovial sarcoma of the mediastinum is very rare and to our knowledge has not been previously studied with the help of cytogenetics. Given the biphasic pattern of the tumor and its mediastinal location, it can be confused with mesothelioma. This stresses the interest of chromosome analysis in the study of tumors histologically difficult to classify.

The purpose of this study, which took the form of a two-period cross-over clinical trial, was to determine whether a homeopathic substance, Arnica Montana, significantly decreased bleeding time (Simplate II) and to describe its impact on various blood coagulation tests. It was not shown that this substance had a significant impact on various parameters of blood coagulation in healthy volunteers in the period immediately following administration [corrected].

In order to study the antitumour activity of taxol (a diterpene of the taxane type) isolated from Yew: Taxus baccata L. (Taxacae), human tumours implanted as xenografts in athymic Mice were used. Swiss nude mice were treated subcutaneously (12.5 mg/kg/injection/day for 5 consecutive days out of 7, over a period of 3 weeks). Treatment by taxol of a liver metastasis of a breast tumour, a tongue primary tumour and a skin metastasis of bronchial carcinoma gave statistically significant results (0,01 greater than P greater than 0,001 and P less than 0,001). However, taxol showed a very moderate antitumour activity against a transplanted primary tumour of the colon.

One of the children of a t(15;22) (q111;p11) woman has lost the minute metacentric der(15) without any clinical consequence, indicating the inocuity of the 15pter----q111 and 22pter----p11 monosomies. The segregation mechanism of this monosomy and, from this family, the relation between reciprocal translocations and Robertsonian translocations are discussed. Another subject with r(22) in the same family questions on an hypothetic common origin.

The authors studied a series of 25 rheumatoid wrists, stages II and III according to Steinbrocker or Larsen, treated between 1981 and 1983 by realignment-stabilization synovectomy. The mean follow-up period was 2 1/2 years. The different steps of the operation--articular and tenosynovectomy, tendon transfers associated with dorsal ligamentoplasty--have an additive effect in achieving relief of pain, with preservation of the pre-existing mobility and long-term stability in both the frontal and sagittal planes. In other studies, resection of the ulnar head results in a 40 p. cent increment in instability with notably aggravation of ulnar sliding. Preservation of the distal radioulnar articulation according to Sauve-Kapandji's operation constitutes a new approach to rheumatoid arthritis and, in our opinion, appears to be simple and is very efficient in stabilizing the wrist immediately, thus allowing early rehabilitation of these patients. Long-term stability is affirmed by clinical and roentgenologic follow-up.

Cytogenetic study of a case of Bloom's syndrome (number 46 of the international registry) confirms the excess of exchanges in all cellular types with the exception of a minority of lymphocytes and of two lymphoblastoid cell lines. These exchanges are produced in an X or U fashion between sister chromatids or between homologous chromatids and produce both simple and complex figures for which symmetry is the common feature. Some of these structures are rearranged secondarily, producing centric or acentric fragments and marker chromosomes. Triradial configurations are considered to be the result of exchanges rather than of partial endoreduplication. Chromatid and chromosome breaks are interpreted to result from incomplete exchanges. It is suggested that the general propensity for exchanges is the primary event responsible directly or indirectly for the cytogenetic observations rather than a defect in one of the DNA-repair mechanisms. No increase in mitomycin C sensitivity appears in vitro. The excess of SCEs is partially correlated by contact in vitro with normal cells and to a lesser degree by the culture medium in which the cells were grown.