Primary cardiac osteosarcoma: A rare cause of chest pain in a young man.

Although primary cardiac osteosarcoma is uncommon, cardiac neoplasms should be in the differential diagnosis of cardiac complaints. We present a case of a 35 year old man with recurrent episodes of exertional chest pain and who was diagnosed with primary cardiac osteosarcoma. Cardiac osteosarcomas are rare but must be suspected.

Well-tolerated oral cyclosporine in a case of hypersensitivity to parenteral cyclosporine in postallogeneic bone marrow transplantation.

Cyclosporine is one of the main drugs used for the prophylaxis of graft versus host disease in bone marrow transplanted patients. Hypersensitivity reaction to intravenous cyclosporine is rare and might be due to its vehicle polyoxyethylated castor oil, Cremophor EL. The exact mechanism is unknown, but IgE and IgG antibodies, complement, and histamine release have been considered to play a role in the development of this reaction. Here, we describe a case of anaphylaxis to intravenous cyclosporine, which was developed in a 19-year-old Iranian female with acute myeloid leukemia who underwent allogeneic bone marrow transplantation from her sister. The corn oil-based soft gelatin capsule (Sandimmune®) was substituted with no reaction. Our observation along with the previous reports confirms the role of Cremophor EL in hypersensitivity reaction to cyclosporine, according to which, modifying the formulation of the intravenous (IV) form could be the solution for this problem.

Effects of beta-glucan and resistant starch on wheat dough and prebiotic bread properties.

White wheat flour is a poor source of dietary fiber. Therefore a demand exists for enrichment of bread with non-digestible prebiotic ingredients that exert health-promoting effects. In this study, the effects of beta-glucan (BG) and resistant starch (RS) on the dough properties and bread-making characteristics were investigated. The water absorption of doughs increased with increasing BG and RS levels. Also, development time and farinograph quality number of BG-enriched doughs remained similar to that of the control while the doughs stability decreased, and all of these values decreased when the RS was added. BG was more effective in increasing the dough softening than RS. The resistance to deformation, energy, maximum resistance and ratio number values; increased with the addition of RS or BG, but their extensibility was decreased in comparison to the control. Formulation containing BG/RS combination showed the best farinograph (development time, stability) and extensograph (resistance and extensibility) parameters. The application of BG and RS had similar effect on specific volume, and moisture content while it caused a decrease in firmness after 5 days of storage.

Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. Methods: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria. All samples were screened for two common APOB gene mutations, including R3500Q and R3500W, by the means of ARMS-PCR and PCR- RFLP assays, respectively. In addition, exons 3, 4, 9, and 10 of LDLR gene were sequenced in all patients. Results: A novel mutation in exon 3 (C95W) and a previously described mutation in exon 4 (D139H) of LDLR gene were found. Three previously reported polymorphisms in LDLR gene as well as three novel polymorphisms were detected in the patients. However, in the studied population, no common mutations were observed in APOB gene. Conclusion: The results of our study imply that the genetic basis of FH in Iranian patients is different from other populations.

Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.

Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a mutation in the phenylalanine hydroxylase (PAH) gene. Untreated PKU can lead to mental retardation, seizures, and other serious medical problems. This study was designed to investigate the status of molecular defects in the PAH gene and their association with polymorphisms in Kurdish patients with PKU in the Kermanshah province, western Iran. The study was conducted on 27 unrelated patients with PKU over a 2-year period (from 2010 to 2012). All 13 exons plus exon-intron boundaries of the PAH gene were analyzed and we identified 15 different mutations, including two novel mutations, in 51 of the 54 mutant alleles (diagnostic efficiency of 94.4 %). IVS4 + 1G > C (c.441 + 1G > C) and IVS7 - 5 T > C (c.843 - 5 T > C) are novel mutations that have not been reported in the academic literature or the PAH locus database ( http://www.pahdb.mcgill.ca ); therefore, they may be specific to the Kurdish population. IVS2 + 5G > C and IVS9 + 5G > A were the two most prevalent mutations in our sample, with frequencies of 26 % and 17 %, respectively. The second most common mutations were p.R261X, IVS10 - 11G > A, p.K363 > Nfs and IVS7 - 5 T > C, with each showing a relative frequency of 7.4 %. All other detected mutations, including p.F55 > Lfs, p.R176X, p.R243Q, p.V230I, p.R243X, p.R261Q, IVS8 - 7A > G and p.E390G had frequencies of less than 4 %. The present study showed that there is a distinct difference in the characteristics of PAH mutations between the Kermanshah province and other parts of Iran, suggesting that Kermanshah may have a unique population distribution of PAH gene mutations. Iran lies on the route of major ancient movements of the Caucasian people toward the Mediterranean basin, and Kermanshah has previously been called the gateway to Asia. Most of the mutations identified in this study are common in the Mediterranean region. Therefore, our findings are consistent with the historical and geographical links between the Iranian population and the populations of Mediterranean region.