No abstract available.
Birt-Hogg-Dube Syndrome ; Lasers, Gas

BACKGROUND: Down's syndrome (DS) is a genetic anomaly, which undergoes increased morbidity and mortality when associated with congenital heart disease (CHD). The aims of the study were to determine the prevalence of CHD and pulmonary hypertension (PH) in DS. METHODS: One hundred twenty-seven patients with DS living in Mexico City were evaluated by physical exam, electrocardiogram and echocardiogram. RESULTS: CHD was found in 40%. In 80% (n = 102) PH was present [systolic pulmonary artery pressure (SPAP) of 47 +/- 19 mm Hg and mean pulmonary artery pressure (MPAP) of 32 +/- 11 mm Hg]. Patients with CHD and PH were classified as having 1) no shunt (n = 18) with SPAP of 37 +/- 9 mm Hg and MPAP of 25 +/- 6 mm Hg and 2) with shunt (n = 26) with PASP of 57 +/- 29 mm Hg and MPAP of 38 +/- 19 mm Hg (p < or = 0.001). In those without CHD or with CHD without shunt (n = 76), SPAP was 37 +/- 19 mm Hg and the MPAP 25 +/- 6 mm Hg. The prevalence of PH in DS was 5.9% at one year and 15% at 10 years. The odds ratio of PH in DS with CHD was 7.3 vs. 3 without CHD. CONCLUSION: DS has a high prevalence of CHD and PH. PH prevalence increases when it is associated with CHD. The pathophysiology of PH in DS without CHD should be studied in the near future. Echocardiography is an indispensible tool for evaluation of DS.
Down Syndrome* ; Echocardiography* ; Electrocardiography ; Heart Defects, Congenital* ; Humans ; Hydrogen-Ion Concentration ; Hypertension, Pulmonary* ; Mexico ; Mortality ; Odds Ratio ; Prevalence* ; Pulmonary Artery

BACKGROUND: Sclerostin inhibits osteoblast functions, differentiations, and survival rates. As an endogenous inhibitor of the Wnt/beta-catenin pathway, the sclerostin should be related to decreased bone masses, although several studies indicate opposite results. In addition, it may be related to insulin resistances and carbohydrate metabolisms, a relation shared with other markers of bone metabolisms, such as osteocalcin. Hepatitis C virus (HCV) infected patients may present osteoporosis, and frequently show liver steatosis, which is a consequence of insulin resistance. The behaviour of sclerostin in these patients is yet unknown. The aim of this work is to analyse the relationships between serum sclerostin and osteocalcin levels and bone mineral density (BMD), liver functions, the intensity of liver steatosis and biochemical markers of bone homeostasis and insulin resistance in HCV-infected patients. METHODS: Forty HCV patients with 20 years of age and gender-matching controls were included in this study and underwent bone densitometry. Serum sclerostin, osteocalcin, collagen telopeptide, adiponectin, leptin, insulin, resistin, tumor necrosis factor (TNF)-alpha, and interleukin (IL)-6 were determined. Liver fat was histomorphometrically assessed. RESULTS: Sclerostin levels were slightly higher in patients than in controls, and were directly related to BMD at different parts of the skeleton, also to the serum telopeptide, and to the liver steatosis and TNF-alpha. On the contrary, osteocalcin showed a significant direct relationship with serum adiponectin, and an inverse one with IL-6. CONCLUSIONS: Serum sclerostin levels were within the normal range in HCV patients, and correlated directly with BMD and serum telopeptide. In addition, the relationships of sclerostin and osteocalcin with variables associated with insulin resistance suggested the role of bones for intermediary metabolisms.
Adiponectin ; Biomarkers ; Bone Density ; Collagen ; Densitometry ; Fatty Liver ; Hepacivirus* ; Hepatitis C* ; Hepatitis* ; Homeostasis ; Humans ; Insulin ; Insulin Resistance ; Interleukin-6 ; Interleukins ; Leptin ; Liver ; Osteoblasts ; Osteocalcin ; Osteoporosis ; Reference Values ; Resistin ; Skeleton ; Survival Rate ; Tumor Necrosis Factor-alpha

Thalidomide is an immunomodulatory drug (IMiD) with proven therapeutic action in several autoimmune/inflammatory diseases; however, its inherent high toxicity has led to the development of more powerful and safer thalidomide analogs, including lenalidomide and pomalidomide. These are new generation IMiDs that exhibit direct antitumor activity as well as anti-inflammatory/immunomodulatory properties, and are FDA-approved for the treatment of several hematological malignances. Here we investigated the potential therapeutic effects of lenalidomide and pomalidomide in several experimental murine models of autoimmune/inflammatory diseases: 2,4,6-trinitrobenzene sulfonic acid- and dextran sulfate sodium-induced inflammatory bowel disease and type II collagen-induced arthritis. Lenalidomide displayed a strong therapeutic effect in all these models of autoimmune/inflammatory diseases, while the effect of pomalidomide was less pronounced. In vitro experiments confirmed the immunosuppressive effect of both IMiDs on the proliferative response of stimulated human lymphocytes and on the balance of secreted cytokines toward an anti-inflammatory profile. We conclude that lenalidomide may offer a therapeutic opportunity against autoimmune/inflammatory diseases.
Arthritis, Experimental ; Arthritis, Rheumatoid* ; Cytokines ; Dextran Sulfate ; Humans ; In Vitro Techniques ; Inflammatory Bowel Diseases* ; Lymphocytes ; Models, Theoretical* ; Thalidomide ; Therapeutic Uses