[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.

[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.

[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.

Association of eNOS gene polymorphisms T-786C and G894T with blood pressure variability in man.

The aim of this study was to evaluate the association of single nucleotide polymorphisms (SNPs) T-786C and G894T in the gene encoding eNOS with blood pressure variability (BPV) in man. Blood pressure was recorded beat-to-beat at rest three times in periods of one week (5 min, Finapres, breathing at 0.33 Hz) in 152 subjects (19-24 years). Systolic (SBPV(0.1r)/SBPV(0.1a)) and diastolic (DBPV(0.1r)/DBPV(0.1a)) blood pressure variabilities in relative (r.u.) and absolute (mm Hg(2)/Hz) units were determined by the spectral method as spectral power at the frequency of 0.1 Hz. Genotypes of both polymorphisms were detected using polymerase chain reaction and restriction analysis using enzymes Msp I and Ban II. Significant differences were observed in BPV among genotypes of T-786C SNP (p<0.05; Kruskal-Wallis), and among haplotypes of both SNPs (p<0.05; Kruskal-Wallis) as well. In T-786C SNP, carriers of less frequent allele (CC homozygotes and TC heterozygotes) showed significantly greater SBPV(0.1r) and SBPV(0.1a) compared to TT homozygotes (Mann-Whitney; p<0.05). The G894T variant showed no significant differences, but, both SNPs were in linkage disequilibrium (D'=0.37; p<0.01). Carriers of haplotype CT/CT (CC homozygotes of -786C/T and TT homozygotes of G894T) displayed significantly greater SBPV(0.1r), SBPV(0.1a) and DBPV(0.1a) compared to carriers of other haplotype combinations (Kruskal-Wallis; p=0.015, p=0.048, and p=0.026, respectively). In conclusion, the haplotype formed by less frequent alleles of both eNOS variants was associated with increased systolic and diastolic BPV in this study.

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.

[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.