A 47-year-old man presented with dyspnea and pain in the right lower thorax. The thoracic radiography and the MRI exam were suggestive for a giant tumor located in the right supradiaphragmatic region. Surgical exploration revealed a diaphragmatic pediculated tumor, hypervascularised, weighting 4.8 Kg and measuring about 27 / 18 cm, that was removed with difficulty due to adherences and bleeding. The hystopatological examination showed multiple capillary and arteriolar vessels, included in masses of round and fusiforme cells (pericites), having multiple nuclear abnormalities.

LAM, a rare lung disease typically affecting women of reproductive age, is characterized by abnormal proliferation of smooth--muscle cells and progressive loss of pulmonary function due to destruction of lung parenchyma. Two cases of bilateral succesive recurrent spontaneous pneumothorax and haemoptysis are presented. Repeated conventional and video-assisted surgery was required in both cases, for drainage of the recurrent pneumothorax and resection of subpleural bulae, with good immediate postoperative evolution. Immunohistochemical studies of resected specimens revealed LAM cells in the lung parenchyma with receptors for oestrogen and progesterone. HMB45 monoclonal antibodies in the LAM cells were identified in one case. The follow-up of the patients revealed no signs of recurrence at 84 and 18 months respectively, although pulmonary transplantation should be considered in case of further deterioration of respiratory function.

We performed retrospectively study on 136 thoracoscopies done in our clinic in the period January 2000 and December 2004. We reviewed 136 thoracoscopies, 71 patients were male and 65 were female (mean age 58.4 years). Straw colored effusions were present in 78 cases (57%) and hemorrhagic in 58 cases (43%). The surgical procedure consist in diagnostic of thoracoscopy with drainage of pleural effusion, multiply pleural biopsy, pleurodesis and continuous pleural drainage. In our study, the talc powder (5g) was successfully as sclerosing agent. The primary tumor was: lung-63 (46%), breast-26 (19%), mesothelioma-21 (15.5%), stomach-3, ovarian-3, prostate-3, colon-2, lymphoma-1, leukemia-2, plasmocytoma-1 and unknown primary tumor in 11 cases (8%). Adverse effects included-chest pain-35 cases (25%), fever-20 cases (15%), empyema-6 cases (4.5%), prolonged air leak-5 cases (4%), pulmonary infection-2 cases, acute respiratory failure-1 case, malignant invasion of scar-1 patient. For statistical analysis, the success of talc pleurodesis was defined as the absence of pleural fluid on the follow-up chest radiographs. Pleurodesis was successful in 125 cases (92%) of the patients after 1 month-follow-up. Thoracoscopic talc pleurodesis is a safe, economical and effective treatment for malignant pleural effusion.

Tuberculosis is an "old disease" but still remains a threat in modern days life. Despite human and material efforts, despite the improvements in drug therapy, the treatment of tuberculosis continue to consume a great amount of health care worldwide. A certain percentage among the patients with pleuro-pulmonary tuberculosis represents failures of DOTS therapy. Among them, paraclinical investigations will select candidates eligible for thoracic surgery. In our study we are reviewing the main surgical options and we present our experience regarding surgery in pleuro-pulmonary tuberculosis--what to operate and when is the best moment.

OBJECTIVE: To investigate the involvement of the CIAS1/PYPAF1/NALP3 gene in 7 unrelated Spanish families with recurrent autoinflammatory diseases characterized by early onset, recurrent fever, and a chronic urticarial rash, in whom a clinical diagnosis of cryopyrin-associated periodic syndromes (CAPS) is suspected. METHODS: Clinical symptoms, results of laboratory analyses, and data on previous treatments in members of the 7 families were recorded on a questionnaire specific for hereditary autoinflammatory diseases. All coding regions and intronic flanking boundaries of the CIAS1/PYPAF1/NALP3 gene were amplified by polymerase chain reaction and sequenced. RESULTS: Five different missense mutations, including 2 de novo and 1 previously unreported mutation (R488K), were identified in exon 3 of the CIAS1/PYPAF1/NALP3 gene in 5 of the 7 affected families. Expanded genetic analysis among the healthy individuals identified incomplete penetrance in 2 families. No mutations were found in 2 of the 3 patients with chronic infantile neurologic, cutaneous, articular (CINCA) syndrome/neonatal-onset multisystem inflammatory disease (NOMID). CONCLUSION: The clinical data suggested a diagnosis of familial cold-induced autoinflammatory syndrome in 3 families, CINCA/NOMID syndrome in 3 others, and a possible Muckle-Wells syndrome, whereas mutational analysis showed different CIAS1/PYPAF1/NALP3 missense mutations in 5 families. These data are consistent with a common molecular basis of these diseases and highlights the phenotypic heterogeneity among CIAS1/PYPAF1/NALP3 gene-associated syndromes. The previously unreported mutation and the incomplete penetrance found in 2 families expand the genetic basis underlying these autoinflammatory syndromes. These findings should alert clinicians to the possible genetic basis of these conditions, even in the absence of a family history, in their attempts to establish an accurate diagnosis and the optimal therapeutic approach.

We investigated the cause of hereditary periodic fever syndrome in a Spanish child with recurrent long episodes of fever, migratory skin rash, myalgia, arthralgia, conjunctivitis and abdominal pain. Infectious and autoimmune causes were ruled out. No familial history was reported. Analysis of the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene identified a missense mutation (G36E) on exon 3. The absence of this variant in the patient's parents and in controls identified it as a de novo disease-associated mutation. Clinical symptoms disappeared with administration of etanercept; however, levels of acute-phase reactants remained increased and could not be stabilised by the addition of colchicine. We believe that this patient gained some symptomatic relief with etanercept therapy, although not enough to completely avoid the risk of amyloidosis. Thus it is debatable whether etanercept alone or combined with other drugs, is the treatment of choice for patients with tumour necrosis factor receptor-associated periodic syndrome. CONCLUSION: Since there is variability in treatment responses among different patients with tumour necrosis factor receptor-associated periodic syndrome, we suggest that a systematic evaluation of acute-phase reactants, especially SAA-1, could be useful in maintaining or modifying a given therapeutic approach in these patients.

Mutations at the MEFV gene cause, with various degrees of penetrance, familial Mediterranean fever (FMF). This disease is more prevalent in the Middle East than elsewhere, and most studies have focused on those populations. However, FMF occurs also in the Western Mediterranean and these populations should be taken into account for a complete view of FMF. We have analyzed intragenic MEFV SNPs in Spanish and Chueta (descendants of converted Jews) FMF patients and controls, and this constitutes the first systematic survey of normal MEFV SNP haplotype structure and variability. Our findings have allowed us to systematize the nomenclature of MEFV haplotypes and show that there is strong linkage disequilibrium (LD) at the MEFV locus and an intragenic recombination hot spot. The high local LD, regardless the recombination hot spot, is responsible for the limited diversity of the MEFV control haplotypes found in the Spanish population and it suggests that it may be a common feature to all Mediterranean populations. The MEFV mutation spectrum in Spain is quite diverse, and similar to those of France and Italy. On the contrary, the Chueta spectrum was poorer and closer to that of North African Jews, suggesting a direct connection with the Jewish diaspora.

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis. The MEFV gene, on chromosome 16p13.3, is responsible for the disease and around 30 mutations have been reported to date. Colchicine is the standard FMF treatment today, and prevents both attacks and amyloid deposition in 95% of patients. Here we describe a three-generation Spanish kindred with five family members affected by a severe periodic inflammatory disorder associated with renal AA amyloidosis and colchicine unresponsiveness. Clinical diagnosis of definite FMF disease was made based on the Tel-Hashomer criteria set. Genetic analyses revealed that all subjects were heterozygous for the new H478Y MEFV variant, segregating with the disease. In addition, mutations in the TNFRSF1A and CIAS1/PYPAF1/NALP3 genes, related to the dominantly inherited autoinflammatory periodic syndromes, were ruled out. However, the dominant inheritance of the disease, the long fever episodes with a predominant joint involvement, and the resistance to colchicine in these patients raise the question of whether the periodic syndrome seen in this kindred is a true FMF disease with unusual manifestations or rather another MEFV-associated periodic syndrome. We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full-length analyses of the MEFV gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non-ancestral populations.