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N Schleinitz

Publications and source records attributed to N Schleinitz.

At least 19 recordsLinked to original sources
PubMed2006

[The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene].

INTRODUCTION: Familial macrothrombocytopenias are a group of rare autosomal dominant platelet disorders including many syndromes in particular the May-Hegglin anomaly. They are characterized by thrombocytopenia with giant platelets and in some cases neutrophilic inclusions in peripheral blood granulocytes. Recently these different clinical entities have been demonstrated to be linked to mutations in the same gene, MYH9. CASE REPORT: We report in a young African woman presenting as a May-Hegglin anomaly a new mutation of the MYH9 gene. In regard of this case we present a brief review of the MYH9 syndrome. CONCLUSION: The MYH9 syndrome includes now several clinical entities who share some common clinical and biological characteristics such as a thrombocytopenia with giant platelets, presence or absence of other manifestations including Dohle like bodies, nephritis, sensorineural hearing loss, cataract. We report a new case in which a new mutation of the MYH9 gene was evidenced.

Adenine↗
PubMed2005

[NK cells: new insights on physiology and clinical implication in diseases].

INTRODUCTION: Natural killer cells are cytotoxic lymphocytes of innate immunity. These last ten years our knowledge about the mechanisms that regulates NK cell function has greatly improved. Our purpose is to present a review of these new acquisitions and their potential implications in human disease. CURRENT KNOWLEDGE AND KEY POINTS: NK cell function is regulated by a repertoire of NK cell receptors and is diversified by recognition of MHC class I by a multigenic and multi-allelic family of NK receptors. Analysis of NK cell repertoire has been used to investigate features that characterize NK cells in pathological situations. Apart from their direct cytotoxic potential to eliminate target cells, recently identification of mechanisms that control NK cell mediated cytokine production and cross talk with dendritic cells emphasize the role of NK cells in the regulation of acquired immune response. FUTURE PROSPECTS AND PROJECTS: These findings have lead to a better knowledge of the importance of the NK cells in several human diseases. It has been shown that NK cells are actors of the immunosurveillance of tumoral and infectious challenges. Allo or auto reactivity of the NK cell compartment have also been suggested in autoimmune diseases, infertility or foetal loss and transplantation. Ongoing research on NK cells in the fields of human diseases is increasing and will clarify the utility of the evaluation of the NK cell compartment and their receptors in clinical practice.

Animals↗
PubMed2005

[Anaerobic deep abscesses with unusual location: report of 5 cases].

OBJECTIVE: Anaerobic deep abscesses are rare and may have unusual location leading to severe outcome due to delayed diagnosis and treatment. In order to improve their diagnosis, we report and analyse 5 new cases. METHODS: Patients were seen from 1999 to 2003 in a single department of internal medicine of the university hospital of Marseille. RESULTS: Five new cases were diagnosed consisting in 3 females and 2 males with a medium age of 56,8 years, with unusual location in 4 cases: epidural (2), psoas (1) and sub-diaphragmatic (1) or circumstances in one case of pulmonary abscess unrelated to inhalation. Predisposing conditions thought to compromise resistance to infection were found in all cases: social poverty (4/5), alcoholism (3/5), smoking (4/5), teeth and periodontal disease (4/5), neoplasia (2/5), iatrogenic disease (2/5). Symptoms were insidious (5/5) and unspecific but were always related to the abscess location. Abscesses were frequently found distant from the initial focus of infection because of frequent hematogenous spread (4/5). Drainage of the collection led to bacterial identification in all cases (4/4), although blood cultures could be positive (3/5) and helpful in one case in which drainage was not possible (1/5). The isolated organisms always corresponded to the suspected initial focus (oropharynx 4/5 and digestive 1/5). Finally, combination of surgical drainage and double prolonged antibiotherapy (penicillin+metronidazole) was the elected treatment. CONCLUSION: Since hematogenous diffusion is frequent, anaerobic infection should be suspected in any case of deep abscess affecting patients with predisposing conditions such as poverty, severe teeth disease or iatrogenic procedure.

Abscess↗
PubMed2005

Expression of the beta chemokines CCL3, CCL4, CCL5 and their receptors in idiopathic inflammatory myopathies.

The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by chronic lymphocytic and macrophagic infiltration in muscle. Because the mechanism for recruitment of these cells probably involves chemokines, we focused on the study of the expression pattern of some beta chemokines and receptors because it may provide a basis for selective immunotherapy. The expression of CCL3 (MIP-1alpha), CCL4 (MIP-1beta), CCL5 (RANTES) and their main receptors (CCR1 and CCR5) was studied by semi-quantitative reverse transcriptase polymerase chain reaction (RT-PCR) and immunohistochemistry in a series of 16 IIM and five controls (four normal muscles and one tonsil). Except for CCL5, strong expression was observed by RT-PCR with all molecules in all IIM subtypes in comparison to control muscle. Immunohistochemistry revealed diffuse CCL4 expression in all vessels in dermatomyositis. In both polymyositis and sporadic inclusion body myositis (s-IBM) it was restricted to vessels in the vicinity of inflammatory exudates. CCL5 expression was low, restricted to a few inflammatory cells in all IIM; CCR1 expression was mainly restricted to macrophages and s-IBM endothelial cells, whereas CCR5 was localized in inflammatory cells invading non-necrotic muscle fibres. Expressions of both receptors were also recorded in few muscle fibres. In conclusion, the upregulation of beta chemokines and receptors in IIM and their differential expression by various cells may contribute to chronic inflammation and to the peculiar distribution of inflammatory exudates in these diseases.

Adolescent↗
PubMed2004

[A case of Influenza virus encephalitis in south of France].

INTRODUCTION: Influenza virus outbreaks occur each year, in France, during autumn and winter. Influenza-associated acute encephalitis were reported during epidemics or pandemics. Sporadic cases are rarely identified probably because influenza virus is not searched among etiology of febrile encephalitis. EXEGESIS: We report a case of influenza-associated encephalitis complicated by adrenal insufficiency in a young woman. Diagnosis was based on seroconversion of serum influenza virus A antibodies (complement fixation test). Follow up of the patient showed a total recovery. CONCLUSION: Influenza must be searched for any febrile encephalitis occurring during winter. Reverse transcriptase polymerase chain reaction (RT-PCR) on cerebrospinal fluid should be assessed. It is not actually a routine technique and we do not know yet if it is accurate enough for diagnosis. So, it is important to identify influenza virus and obtain documentary evidence concerning neurological impairment. Nevertheless, a better understanding of pathogenesis and use of vaccination are needed to improve prognosis.

Adult↗
PubMed2004

[Shrinking lung syndrome and systemic auto-immune disease].

INTRODUCTION: Shrinking lung syndrome usually manifest in dyspnea, decreased lung volume associated with elevated diaphragm. It reports with systemic autoimmune disease and physiopathological mechanism is controversial. EXEGESIS: We report three shrinking lung syndrome observations in which two cases were diagnosed at the time to onset of autoimmune disease. The three patients were treated with corticosteroid, two of them necessitated theophylline. Review of the literature highlight 60 cases and permit to discuss physiopathological mechanisms which remain uncertain. Diaphragmatic dysfunction (because of myositis or neuropathy) represented by abnormal transdiaphragmatic pressures is actually discussed. CONCLUSION: Shrinking lung syndrome is rare but must be considered in patient with autoimmune disease and dyspnea. The diagnosis can be difficult because of clinical, pathological and functional features which are controversial. The optimum treatment is unknown.

Adult↗
PubMed2004

[Cold agglutinins, clinical presentation and significance; retrospective analysis of 58 patients].

PURPOSE: To describe clinical, biological characteristics and associated diseases of cold agglutinins in adults. METHODS: Retrospective study in a single department of internal medicine from 1997 to 2002. The inclusion criteria were a positive direct Coombs test and a positive research for cold-reactive autoantibodies. We recorded for each patient: clinical presentation at onset and during follow-up, biological parameters of haemolysis, biological characteristics of the cold agglutinin and associated diseases. RESULTS: Fifty-eight patients (34 females, 24 males), with medium age of 58.8 were included in the study. Clinical presentation was highly variable between acute life-threatening haemolysis and absence of symptoms. Results of direct antiglobulin test were C3 (74%), IgG + C3 (22.4%), IgG (3.4%). Titer, thermal amplitude, strength and specificity of Coombs test were correlated, in all cases except 6, with cold agglutinin haemolytic activity. In 77.6% of cases cold agglutinin was secondary; related to: autoimmune disorders (n = 19), lymphoproliferative disorders (n = 11) and infections (n = 10). CONCLUSION: Clinical presentation of cold agglutinin is highly variable and not always related to the biological characteristics of the bound antibody (titer, thermal amplitude, specificity). In our single center study, diseases associated with cold agglutinin were various with the highest frequency of auto-immune disorders. Our study underlined also the high frequency of lymphoproliferative disorders and justifies a close follow-up of these patients. Finally, we reported a high frequency of hepatitis C virus infection among the infectious aetiologies.

Adult↗
PubMed2003

[Central nervous tuberculosis in patients non-VIH: seven case reports].

PURPOSE: Tuberculosis involving the central nervous system (CNS) is rarely observed in non immuno-compromised hosts. We report herin the various clinical, biological and radiological manifestations observed in 7 patients with CNS tuberculosis. METHODS: Clinical and biological records of 7 patients with CNS tuberculosis were retrospectively studied. All patients had encephalic CT-scan and MRI in the course of the disease. RESULTS: 5 women and 2 men with a mean age of 38.4 years initially initially presented with headache (n = 6), fever (n = 5), meningeal irritation (n = 3), localizing neurological signs (n = 1). Lumbar punction revealed lymphocytic meningitis (n = 6/7). Mycobacterium tuberculosis or bovis was isolated in 3 patients only. Cerebral tomodensitography or magnetic resonance imaging were initially normal in most of cases (n = 4/7), but discovered in the course of disease basilar meningitis (n = 6), hydrocephalus (n = 6), abcess or tuberculoma (n = 4). In all the patients, initiation of the treatment was complicated by clinical and/or biological deterioration, called paradoxal reaction, leading in all cases to glucocorticoid adjunction, with various final results. Indeed, 4 patients developed neurological sequelae. No patient died. CONCLUSION: CNS tuberculosis is a rare disease in non immunocompromised patients whose diagnostic may be difficult due to the absence of specific clinical symptoms, negative initial radiological examination, as well as delayed and often negative bacterial isolation. Paradoxal reaction appeared to be frequent despite specific antibiotherapy and underlines the beneficial effects of addictive corticosteroids.

Adrenal Cortex Hormones↗
PubMed2003

Class I MHC detection as a diagnostic tool in noninformative muscle biopsies of patients suffering from dermatomyositis (DM).

This study is to further confirm the diagnostic value of class I MHC detection in muscle biopsies of adult patients presenting with clinical features of dermatomyositis (DM) and to address its diagnostic value in the case of nonspecific biopsies. A retrospective study was performed on muscle biopsies in 22 patients presenting with clinical features of DM. Immunohistochemical detection of class I MHC was performed in all cases. On pathological features two groups of patients were recorded: group I (14 patients) with typical features of DM and group II (eight patients) with almost normal muscle biopsies (no inflammatory exudates, no perifascicular atrophy). Abnormal sarcolemmal class I MHC expression was recorded in all cases. In all muscle biopsies of group I patients, class I MHC expression was observed in almost all fibres but was stronger in perifascicular areas (eight patients) or was restricted to perifascicular atrophic fibres (six patients). In all muscle biopsies of group II patients, only some perifascicular fibres expressed class I MHC. According to Bohan and Peter criteria, patients were classified as definite DM (nine group I and three group II patients), probable DM (five group I and two group II patients) and possible DM (three group II patients). Abnormal perifascicular class I MHC expression is of diagnostic value in patients presenting with clinical features of DM especially when muscle biopsy fails to show typical features such as inflammatory infiltrates and/or perifascicular atrophy.

Adult↗
PubMed2002

[Dermatomyositis and polymyositis].

Dermatomyositis (DM) and polymyositis (PM) are the two main forms of idiopathic inflammatory myopathies. They have in common a proximal muscle weakness, but skin manifestations, juvenile forms and increased incidence of malignancies are clinical characteristics of DM. The follow up of creatine-kinases is the best biological test in spite of their possible normality. The significance of antibodies titers is uncertain, except the association Jo-1 interstitial and lung disease indicating a poor prognosis. The association with HLA haplotypes expresses a genetic predisposition of a dysimmunity to develop DM or PM. Pathological changes are well known with a humoral immune effector mechanism in DM, and a muscle fibre aggression by CD8 + T cells in PM. Non inflammatory forms of DM and PM and rhabdomyolytic forms of PM are not very rare, they are recognized by the HLA class 1 immunoreactivity. Pathophysiological processes involve muscle fibers, inflammatory cells and endothelial cells of capillaries, with a complex intervention of cytokines, adhesion molecules, MHC classe 1, membrane attack complex, anti endothelial cells antibodies, perforin secretion and sometimes apoptotic Fas-mediated mechanisms. Despite these recent advances, causal antigens and activator processes of endothelial cell lysis and autoinvasive cytotoxicity of muscle fibers remain to be identified.

Biomarkers↗
PubMed2001

Regulation of inhibitory and activating killer-cell Ig-like receptor expression occurs in T cells after termination of TCR rearrangements.

A small fraction of T cells expresses killer-cell Ig-like receptors (KIR), a family of MHC class I-specific receptors that can modulate TCR-dependent activation of effector functions. Although KIR(+) cells are enriched within Ag-experienced T cell subsets, the precise relationships between KIR(+) and KIR(-) T cells and the stage of KIR induction on these lymphocytes remain unclear. In this study, we compared KIR(-) and KIR(+) alphabeta T cell clones, sorted by means of the CD158b (KIR2DL2/KIR2DL3/KIR2DS2) specific mAb GL183. We isolated several pairs of CD158b(+) and CD158b(-) alphabeta T cell clones sharing identical productive and nonproductive TCR transcripts. We showed that expression of functional KIR on T cells is regulated after termination of TCR rearrangements. Transcriptional regulation of KIR genes was documented in multiple T cell clones generated from the same donor, and the presence of KIR transcripts was also detected in KIR(-) T cells. These results document a complex regulation of KIR expression in T cells at both pre and posttranscriptional levels, under the control of yet undefined signals provided in vivo.

Amino Acid Sequence↗
PubMed2001

[Acquired factor V inhibitor: etiology, bleeding risk and therapeutic management with regard to three cases].

INTRODUCTION: Acquired factor V inhibitor is rare and clinical symptoms are quite variable. Bleeding is the leading symptom but some patients are asymptomatic. Several diseases or conditions are associated with factor V inhibitors. Various treatments have been attempted but randomized or prospective trials are not available. EXEGESIS: Here we report three cases of acquired factor V inhibitor. These reports highlight the clinical variability of this disorder. Pathogenesis and therapy with reference to the literature are discussed. CONCLUSION: Factor V inhibitors are rare and associated to several diseases or conditions. Pathogenesis is still unclear except in patients exposed to bovine thrombin. The majority of the cases developed after surgery. In a few cases there is an association to a malignant or autoimmune disease. Plasmapheresis and platelet transfusions might be the best treatment in case of severe bleeding. High-dose intravenous immunoglobulin infusions have been used successfully in some cases and we report here their efficacy in two cases.

Aged↗
PubMed2000

[Acute neuromyocarditis secondary to diet-induced beriberi. Case report].

INTRODUCTION: Thiamine deficiency can be determined by various clinical signs; some of these symptoms may be acute, and require an urgent diagnosis. In countries such as ours with a high standard of living, this disorder is more commonly observed in cases of severe alcoholism, and cases of diet-associated thiamine deficiency are rare, and therefore not easily recognized. The metabolic disorders resulting from vitamin B1 deficiency are responsible for the well-known central or peripheral neurological symptoms, and also for the less common and often more acute cardiovascular reactions. Immediate thiamine/vitamin B1 supplementation is of major importance. The rapid reversal of symptoms following this treatment is often considered as a diagnostic index. EXEGESIS: In this study, an original case of diet-associated thiamine deficiency has been reported, with clinical symptoms including myocarditis and subacute peripheral nerve involvement in a young adult. The disorder was the result of a thiamine deficiency in the diet, which was exclusively based on milled rice. CONCLUSION: The present report is interesting both as regards its clinical aspects and its etiology, and it emphasizes the importance in the differential diagnosis of a given case of taking the possibility of diet-related thiamine deficiency into account, although this is an uncommon etiology in developed countries.

Adult↗