[Three cases of bullous lupus erythematosus]. / Étude de trois cas de lupus érythémateux bulleux.

BACKGROUND: Bullous lupus is a subepidermal autoimmune bullous dermatosis, a rare entity that forms one of the cutaneous signs of systemic lupus erythematosus. We report on the clinical, immunopathological and progressive features of bullous lupus in three patients. PATIENTS AND METHODS: Our patients consisted of two women and one man aged 34, 22 and 30 years respectively. A diagnosis of bullous lupus erythematosus was evoked by blisters or vesicular blisters and confirmed, in addition to criteria for the diagnosis of systemic lupus erythematosus, by the presence of subepidermal blistering with infiltrate containing neutrophils and eosinophils as revealed by histological analysis, and of deposits of IgG and IgM (two cases) or of IgA (one case) at the dermo-epidermal junction observed under direct immunofluorescence. Indirect immunofluorescence showed anti-collagen VII antibodies. Lupus nephritis was present in two cases. Our patients were treated with corticosteroids and immunosuppressants. CONCLUSION: Bullous lupus erythematosus may be the first sign of systemic lupus erythematosus with severe visceral involvement, especially renal involvement, suggesting that it may be a marker of activity and prognosis.

[Laparoscopic adrenalectomy--indications and selection criteria]. / Laparoskopická adrenalektomie--indikace a selekcní kritéria.

INTRODUCTION: Laparoscopic adrenalectomy has become a standard surgical procedure for the most of adrenal gland disorders. Hormonal active adenomas, feochromocytomas even some malignant tumors are the most frequent indications. The number of operations for accidentally diagnosed foci has grown rapidly. It has been suggested to revise recommendations specifying criteria, based on which incidentaloma is indicated for adrenalectomy. The aim of this work is to compare the results of adrenalectomies for hormonal active lesions and incidentalomas. MATERIAL AND METHODS: An analysis of 65 patients who underwent adrenalectomy in the Department of Surgery University Hospital Brno Bohunice from 2005 to 2010. Correlation between preoperative examination outcomes and postoperative histology findings was performed. Furthermore, findings in patients indicated for surgery for hormonally active versus for hormonally inactive suprarenal tumors were compared. RESULTS: Thirty-eight patients underwent laparoscopic surgery for hormonally active adrenal tumors, one for bilateral metastasses of bronchogenic carcinoma. In 26 cases adrenalectomy was indicated for incidentaloma. Adrenal hyperplasia was the commonest histological finding in the group with hormonally inactive tumors. No carcinoma was detected in this group. In 5 of 19 patients operated for suspective feochromocytoma, the procedure did not result in blood pressure adjustment and feochromocytoma was histologically confirmed in 11 out of the 19 subjects. The size of the tumors was significantly higher in incidentalomas, compared to hormonally active pathologies. No incidentaloma and hypertension subjects experienced alteration in their clinical condition after the procedure. CONCLUSION: Laparoscopic adrenalectomy is a standard procedure in the majority of hormonally active focal suprarenal conditions. Patients with accidentally detected suprarenal tumors should be carefully indicated, taking into consideration internal comorbidities and any surgical procedures in a patient's history. The benefit of adrenalectomy for the clinical condition alteration is arguable in incidentalomas. The National Institutes of Health U.S.A. (NIH) consensus guidlines should be strictly followed during the decision making proces. Indication for adrenalectomy in tumors of less than 6 cm and with benign appearance on CT or MRI is not considered rational.

[Efficacity of rituximab in hemolytic anemia with cold autoantibodies case]. / Efficacité exemplaire du rituximab dans un cas d'anémie hémolytique à autoanticorps froids.

INTRODUCTION: Autoimmune hemolytic anemia with cold autoantibodies or cold agglutinin disease is a rare chronic disorder in which no treatment has, until now, evidence of its effectiveness. CLINICAL CASE: We report a patient who successfully responded to rituximab for a cold agglutinin disease refractory to conventional therapy with very good tolerance and a complete remission. CONCLUSION: There are only few observations that have been reported in the literature regarding the efficacity of rituximab in the treatment of cold agglutinin disease. This promising therapy could, in the future, constitute a real alternative.

[Ulcerative colitis: exceptional consequence after rituximab therapy]. / La colite ulcérative : une conséquence exceptionnelle après traitement par rituximab.

INTRODUCTION: Possible adverse complications related to rituximab (RTX) are low, some of which are extremely rare. The authors describe one situation visibly waning exceptional treatment with RTX for SLE refractory to conventional therapies. COMMENT: The authors report a patient of 34 years followed for months for an illness in its bullous lupus, with cutaneous, articular, hematologic and immunologic. Given a corticosteroid resistance, several therapeutic background based hydroxychloroquine, cyclophosphamide and methotrexate, were initiated without any improvement. Immunomodulatory therapy type RTX was introduced to this form refractory at a rate of 375mg/m(2)/week. The waning of the second infusion, the patient presented a sudden intense abdominal pain syndrome, revealing an acute catarrhal appendicitis. At distance from the appendectomy, the consequences of which were favorable, treatment with RTX was resumed. In the aftermath of the third infusion, the patient presented in table tract marked by profuse watery diarrhea whose explorations reveal a morphological endoscopic appearance of erythematous, ulcerative colitis, reversible upon discontinuation of treatment. Histological data revealed important infiltrates composed mainly of CD8T lymphocytes. CONCLUSION: Gastrointestinal immunological consequences to the requirements of the targeted therapies deserved very careful and rigorous monitoring. However, at the slightest sign of digestive, a detailed morphological exploration is essential, to avoid in particular surgical emergency, evolution without treatment could engage in short-term vital prognosis.

[Durable efficacity and remission after treatment with imatinib mesylate for FIP1L1-PDGFRA transcript negative associated eosinophilic cardiomyopathy]. / Efficacité et rémission durables après traitement par imatinib mésylate pour une cardiomyopathie éosinophilique à transcrit FIP1L1-PDGFRA négatif.

INTRODUCTION: The cardiac involvement in hypereosinophilia remains a major cause of morbidity and mortality. Recent advances have identified new molecular mechanisms responsible for the expansion of the eosinophilic lineage, allowing a better classification of the different forms of Hypereosinophilic syndrome (HES) and especially targeted therapy. Since the discovery of the involvement of deregulated tyrosine kinases in the pathophysiology of these diseases, and particularly the identification of the fusion gene FIP1L1-PDGFRA, new molecules inhibiting specifically this signaling pathway (imatinib) were individualized, leading to dramatic therapeutic benefits in proliferative forms of HES considered before that of very poor prognosis. CASE REPORT: We report here the dramatic effectiveness of imatinib used as second line therapy for dilated cardiomyopathy revealing a hypereosinophilic syndrome in a patient in whom the search for FIP1-L1-PDGFRA fusion gene was negative. CONCLUSION: If hypereosinophilia has varied clinical and morphological outcome, its clinical consequences, particularly on heart function, are sometimes dreadful, and are not correlated either with blood eosinophil levels or with a specific etiology. We report here a case of HES lacking the FIP1-L1-PDGFRA fusion gene showing that despite the absence of this molecular defect, imatinib mesylate may have therapeutic interest in those cases of HES resistant to first line therapies.

Reproducibility of blood pressure and inter-beat interval variability in man.

Increased blood pressure variability (BPV) and decreased inter-beat interval (heart rate, respectively) variability (IBIV, HRV respectively) are associated with cardiovascular disorders. The aim of this study was to evaluate the reproducibility of BPV and IBIV (HRV) in young healthy individuals. Blood pressure and inter-beat intervals (instantaneous values of heart rate, respectively) were recorded beat-to-beat at rest (5 min, Finapres, breathing at 0.33 Hz) in 152 subjects (19-24 years) 3 times in periods of one week. Systolic (SBPV(0.1r)/SBPV(0.1a)) and diastolic (DBPV(0.1r)/DBPV(0.1a)) blood pressure variability in relative (r.u.) and absolute (mmHg(2)/Hz) units and inter-beat interval (IBIV(0.1r)/IBIV(0.1a)), or heart rate (HRV(0.1r)/HRV(0.1a)) variability in relative (r.u.) and absolute (ms(2)/Hz, resp. mHz(2)) units were determined by the spectral method as spectral power at the frequency of 0.1 Hz and 0.33 Hz (SBPV(0.33r)/SBPV(0.33a), DBPV(0.33r)/DBPV(0.33a), IBIV(0.33r)/IBIV(0.33a), HRV(0.33r)/HRV(0.33a)). All indices of BPV and IBIV (resp. HRV) revealed a lower intraindividual than interindividual variability (ANOVA; p<0.001). The mean values of all indices in each subject significantly correlated with distribution of individual values in the same subject (Pearson's correlation coefficient; p<0.001). Blood pressure and inter-beat interval (heart rate) variability is an individual characteristic feature.

Association of A1166C polymorphism in AT(1) receptor gene with baroreflex sensitivity.

The aim of this study was to evaluate the association of A1166C polymorphism in angiotensin II type 1 receptor (AT(1)R) gene with baroreflex sensitivity (BRS in ms/mm Hg; BRSf in mHz/mm Hg) in man. BRS and BRSf were determined by a spectral method in 135 subjects (19-26 years) at a frequency of 0.1 Hz. Genotypes were detected by means of polymerase chain reaction and restriction analysis using enzyme DdeI. We compared BRS and BRSf among genotypes of this polymorphism. The frequency of genotypes of AT(1)R A1166C polymorphism was: 45.9 % (AA, n=62), 45.9 % (AC, n=62), 8.2 % (CC, n=11). Differences in BRS (p<0.05) and BRSf (p<0.01) among genotypes of this single nucleotide polymorphism were found (Kruskal-Wallis: BRS - AA: 7.9+/-3.3, AC: 8.6+/-3.6, CC: 5.9+/-2.3 ms/mm Hg; BRSf - AA: 12.0+/-4.0, AC: 12.0+/-5.0, CC: 8.0+/-3.0 mHz/mm Hg). Compared to carriers of other genotypes (AA+AC) the homozygotes with the less frequent allele (CC) showed significantly lower BRSf (Mann-Whitney: BRSf - AA+AC: 12.0+/-4.0, CC: 8.0+/-3.0 mHz/mm Hg; p<0.01) and borderline lower BRS (BRS - AA+AC: 8.2+/-3.5, CC: 5.9+/-2.5 ms/mm Hg; p=0.07). We found a significant association of A1166C polymorphism in AT(1) receptor gene with baroreflex sensitivity. Homozygosity for the less frequent allele was associated with decreased baroreflex sensitivity.

[Primary chronic autoimmune neutropenia successfully treated with sirolimus]. / Neutropénie auto-immune primaire avec autoanticorps antineutrophiles traitée avec succès par sirolimus.

We report a 74-year-old man with severe chronic primary neutropenia (neutrophil count: 390 per millimeter cube) uncovered following surgery for perianal abscess collection. Clinical, laboratory and roentgenographic findings revealed no abnormality. Antineutrophil antibodies were positive in two consecutive serum samples. Under cyclosporine, neutrophil count reached 1970 per millimeter cube. However, this therapy was discontinued due to new onset of severe renal failure. After six weeks, neutrophil count was 950 per millimeter cube and sirolimus was started, resulting in renal function improvement and resolution of neutropenia.

[Tuberculous tenosynovitis: an uncommon manifestation]. / Ténosynovite tuberculeuse: une localisation rare.

INTRODUCTION: Synovial sheath involvement of the foot is a rare location of tuberculosis. Its diagnosis is often delayed because of the indolent and chronicity of the clinical features. OBSERVATION: We report a case of bilateral tuberculous tenosynovitis of the anterior tibial and the common extensor of the toes, with uneventful outcome with antituberculous therapy. CONCLUSION: Tuberculous tenosynovitis is uncommon but should be kept in mind in chronic tenosynovitis.

[Acute respiratory distress revealing severe pulmonary leptospirosis]. / Détresse respiratoire aiguë révélatrice d'une leptospirose pulmonaire sévère.

We return a clinical case of leptospirose revelated by a complicated febrile harp pneumopathie of a sharp respiratory distress syndrome having required a transfer in resuscitation. The goal of our article is to recall that it is necessary to think systematically about a pulmonary shape of leptospirose facing an atypical pneumopahie.

[Primary nasal tuberculosis: a case report]. / La tuberculose nasale primaire: a propos d'un cas.

We report a case of a 36 year old woman who presented a chronic rhinitis and a hypertrophy of the inferior turbinates. Primary nasal tuberculosis was discovered by chance after the inferior turbinectomy. Primary nasal tuberculosis is very rare and is more frequent in women. Symptomatology is often unilateral with nasal obstruction, anterior rhinorrhea or epistaxis. The clinical examination may discover ulceration or a polyp located generally in the nasal septum or the inferior turbinate. Diagnosis relies on the anatomopathologic and bacteriological examinations. The treatment is mainly medical based on antituberculosis drugs. In the light of this case report, a review of the literature was made.

Baroreflex sensitivity as an individual characteristic feature.

The reproducibility of baroreflex sensitivity (BRS in ms/mmHg; BRSf in mHz/mmHg) determined with respect to the coherence between the variability in systolic blood pressure (SBP) and inter-beat intervals (IBI) or heart rate (HR) was tested. SBP and IBI were recorded beat-to-beat for 5 min (Finapres, breathing at 0.33 Hz) in 116 subjects (aged 19-24 years) sitting at rest three times in periods of one week. BRS and BRSf was determined by a cross-spectral method in a frequency range of 0.067-0.133 Hz. Eight indices were evaluated: BRS(0.1 Hz) /BRSf(0.1 Hz) - the value at a frequency of 0.1 Hz; BRS(COHmax)/BRSf(COHmax) - the value at maximum coherence; BRS(Wcoh)/BRSf - weighted value with respect to coherence values in the whole frequency range; BRS(WPcoh)/BRS(WPcoh) - weighted value with respect to coherence for frequencies with coherence above 0.5. All indices revealed a lower intraindividual than interindividual variability (p<0.001). The individual mean values of BRS or BRSf correlated (p<0.001) with standard deviation of their individual values for all indices. Baroreflex sensitivity is an individual characteristic feature with the highest reproducibility at its low values in spite of its resting variation. Reproducibility is not influenced by modification of the spectral method used.

Depression in spontaneous cell-mediated cytotoxicity occurs during hemodialysis.

NK activity against K 562 target cells and the percentage of HNK-1+ lymphocytes in peripheral blood were evaluated in 24 patients on maintenance hemodialysis prior to and during post hemodialysis session. No difference was found in the NK activity of these patients before hemodialysis and normal subjects. On the other hand patients had a decreased number of HNK-1+ cells. During hemodialysis, the NK activity as well as the HNK-1+ cell count decreased. No correlation was found between these parameters and either the cause of end-stage renal disease or the duration of dialysis treatment. In addition no correlation was observed between NK activity and the number of HNK-1+ cells.

Tumour necrosis factor-alpha soluble receptors type I are related to symptoms and left ventricular function in hypertrophic cardiomyopathy.

BACKGROUND: High circulating levels of tumour necrosis factor-alpha (TNF-alpha) and its soluble receptors (sTNFRI, sTNFRII) are involved in the pathogenesis of congestive heart failure due to left ventricular (LV) systolic dysfunction. However, their role in hypertrophic cardiomyopathy (HCM) has not been elucidated. OBJECTIVES: To determine the circulating serum levels of sTNFRI in a wide spectrum of patients with HCM, and to study in detail their relationship with symptom severity and various echocardiographic disease characteristics. PATIENTS AND METHODS: sTNFRI serum levels were measured in 66 patients with HCM and 30 age-matched healthy subjects using enzyme linked immunosorbent assay for serum levels of soluble TNF-a receptor type I at rest and at 1, 3 (sTNFRI-3e) and 6 h after dobutamine stress echocardiography (DSE). RESULTS: sTNFRI-r levels were significantly higher in patients with HCM than in control subjects (2.8+/-0.8 compared with 1.4+/-0.5 ng/mL, P<0.002). In patients with HCM, there was a significant difference in sTNFRI-r levels between mildly (New York Heart Association [NYHA] functional class I and II) and severely (NYHA functional class III and IV) symptomatic patients (1.4+/-0.9 compared with 4.8+/-1.0 ng/mL, p<0.001). Higher sTNFRI-r and sTNFRI-3e levels were found in patients with an LV restrictive filling pattern during DSE compared with sustained abnormal relaxation (p<0.052, p<0.004, respectively), and in patients with reduced compared with normal increments in LV fractional shortening during DSE (p<0.02, p<0.003, respectively). CONCLUSIONS: Significant differences in sTNFRI serum levels between patients with HCM and healthy subjects were shown. In patients with HCM, sTNFRI levels were higher in severely symptomatic patients, and in patients with reduced LV systolic and diastolic reserve during DSE. These data suggest that TNF may be involved in the pathogenesis of HCM.

Natural killer cell activity following thermal injury.

The role of natural killer cell activity in immunosurveillance following thermal injury remains unknown. We utilize a chromium-51-release assay of K562 targets to monitor NK activity. NK activity of peripheral blood mononuclear cells of severely burned patients (BSA greater than 20%) was determined once a week until the convalescence period was completed. From the second week after thermal injury, impairment of NK activity was demonstrated, but the differences did not reach statistical significance. However, a correlation was found between decline of NK activity and incidences of septic complications. Surprisingly, no decline in NK activity was observed in the first week after thermal injury.

[Small cell carcinoma of the prostate: a case report]. / Carcinome à petites cellules de la prostate: à propos d'un cas.

Pure small cells carcinoma of the prostate is a rare tumour with a pejorative forecast. We report a case of neuroendocrine small cells carcinoma developed at a 68 years old patient. This tumour expressed a positive marking immunohistochimic with chromogranin A, the rate of PSA was on the other hand normal (2.9 ng/ml). The patient was treated by chemotherapy associating etoposide and cisplatinium and external radiotherapy. He is deceased 4 months afterwards.

[Response of peripheral blood lymphocytes to antigenically nonspecific mitogens in systemic erythematosus]. / Odpovídavost lymfocytu periferní krve na antigenne nespecifické mitogeny u systémového erytematodu.

In 24 patients with systemic lupus erythematosus the proliferating response of lymphocytes of the peripheral blood stream to mitogens PHA, ConA and PWM was examined. The spontaneous incorporation of 3H-thymidine was increased in two patients. The mean response to PHA and PWM was reduced, while the response to ConA was within the normal range. In the active stage of the disease the lymphocyte response was in general lower in the stage of low activity. There was no correlation between the number of CD4 and CD8 lymphocytes nor the CD4/CD8 index and the lymphocyte response to mitogens. In systemic lupus erythematosus the response to PWM was lower than in rheumatoid arthritis, while in rheumatoid arthritis the response to PHA and ConA was lower than in systemic lupus erythematosus.

[Autoantibodies against histones and actin determined by western blotting in patients with rheumatic diseases]. / Autoprotilátky proti histonum a aktinu u nemocných s revmatickými onemocneními urcené metodou western blotu.

Using the Western blot method, the authors analyzed 85 sera obtained from patients with rheumatic diseases, focused on the presence of antihistones and antiactin autoantibodies. The authors detected a 32% incidence of the two investigated autoantibody specificities. In a group of 42 patients with systemic lupus erythematosus in 22 sera (52%) positive antihistone antibodies were present, whereby autoantibodies anti-H1 and anti-H2B were most frequent. In 15 sera in this group of patients (36%) antiactin autoantibodies were present.

[Various clinical courses of hypersensitivity vasculitis with eosinophilia]. / Rozdílné klinické prubéhy hypersenzitivních vaskulitid s eozinofilií.

The authors present three case-histories of patients who were followed up for prolonged periods and where the diagnosis of hypersensitive vasculitis was made. During the follow up period it was not possible to prove development into a different group of vasculitis or to detect a hitherto latent associated disease. Another common sign of the investigated patients was eosinophilia repeatedly found in peripheral blood, bone marrow and tissues. According to clinical criteria the above patients could not be included in groups of known types of vasculitis which are associated with eosinophilia. The patients differed significantly as to clinical manifestations of the disease, the response to different therapeutic approaches and some laboratory immunological indicators. The authors discuss the possible participation of eosinophilia in the tissue damage.