This study will provide more evidence for the use of autologous PRP for DFUs in patients.

Background Filaggrin is a key structural epidermal protein in terminal differentiation and formation of skin barrier. The important role of filaggrin and its effects in various cutaneous and noncutaneous disorders initiated a cascade of considerable research in recent years. Loss‐of‐function mutations in FLG, the human gene encoding profilaggrin/filaggrin, is the cause of the common skin condition ichthyosis vulgaris (IV) and major genetic predisposing factor for atopic dermatitis (AD). Several null mutations in the FLG gene that lead to a decrease or absence of filaggrin in skin and predispose these conditions have been described. Objective The aim of this study was to investigative genetic polymorphism of FLG in Iranian patients with IV and AD. Methods In the current study, we carried out full sequencing of the entire FLG coding region in 30 IV patients and 30 AD patients, and also 60 healthy controls. Results In our research, we identified 43 variants reported previously and two novel variants. Conclusion In our study, in the AD and IV patients, loss‐of‐function FLG mutation was not found. This means that another mechanism other than FLG nonsense mutation is involved in the pathogenesis of these patients.

This study will help extrapolation of the use of PRP for at least thalassemic leg wound treatment.

Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, including exons 6, 7, 8, 11, and 12 were studied through polymerase chain reaction and sequencing techniques. Results: Eight different mutations, including 5 missense mutations, 1 splice mutation, 1 nonsense mutation, and 1 Silent/Splice mutation were detected. These mutations were R243X, R261Q, R261X, P281L, R241C, V399V, E280K, and IVS11+1G>C. V399V and R241C were reported for the first time in Iranian population. Three polymorphisms including Q232Q, V245V and L385L and 3 novel intronic variants including IVS10-15A>C, IVS6+44T>G, and IVS6+36 T>G were also detected in this study. Conclusion: The results of this study prove the heterogeneous status of phenylalanine hydroxylase gene mutations in the Iranian population, which can be useful in carrier testing and genetic counseling.

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Journal homepage: www.zums.ac.ir/jhehp Background: Helicobacter pylori play a significant etiological role in various digestive diseases. Peptic ulcer is caused by H. pylori, which destroys the duodenum mucus and is often observed in the individuals consuming tobacco, spicy and heavy meals, alcohol, coffee, and tranquilizers. Several studies have indicated that duodenal ulcer promoting genes dupA and cagA are involved in H. pylori etiology. The present study aimed to evaluate the correlation between these genes and peptic ulcer. Methods: In this study, 500 stomach biopsy samples were assessed based on the rapid urease test and polymerase chain reaction (PCR) for H. pylori infection, followed by histological and microscopic examinations. Results: The dupA and cagA genes were subjected to PCR. Although dupA showed no significant correlation with peptic ulcer, the cagA genotype had a significant association with peptic ulcer (P < 0.05). Similar to the dupA gene, blood group was not observed to be correlated with H. pylori infection. Conclusion: According to the results, there are significant correlations between tobacco use (P < 0.05), tranquilizer use (P < 0.05), and meteorism (P < 0.05) with peptic ulcer. In addition, the expression of the cagA and dupA genes was investigated in patients with nonulcer dyspepsia and peptic ulcer.