Background: Legg-Calvé-Perthes Disease (LCPD), a juvenile hip disorder, is caused by impaired blood flow to the femoral head. In severe LCPD cases, the femoral head may develop a flattening deformity. Furthermore, if LCPD is diagnosed at the later stages, it causes early osteoarthritis of the hip. The etiology of LCPD is complex and embraces both genetic and epigenetic factors. Objectives: This review attempts to summarize the current knowledge on the role of these genetic variants in the incidence of LCPD. Methods: We searched for articles published in English using the special related search terms. Results: The genetic causes of this disease include mutations in the genes of thrombophilia factors, such as FV Leiden and anticardiolipin antibodies. The mutations of COL2A1, TRPS1, eNOS genes are the other causes. Moreover, the clinical symptoms of avascular necrosis may be indiscernible in patients with Gaucher’s disease or LCPD, and the differential diagnosis is a challenge. Conclusions: The results indicated that genetic testing may be useful in diagnosing and managing patients with juvenile hip disorders.

Background: Repeated Pregnancy Loss (RPL) is defined as 2 or more consecutive spontaneous losses of pregnancy before 20 weeks. Some genetic polymorphisms such as endothelial nitric oxide synthase (eNOS) gene, which lead to the synthesis of nitric oxide, could be the reasons for RPL. This case-control study was investigated the frequency of -786 T>C variant in eNOS gene promoter in Iranian women with RPL. Methods : Blood samples were obtained from 100 unrelated women affected by recurrent pregnancy loss and 100 unaffected women as controls. Genomic DNA was extracted and -786 T>C polymorphism in eNOS gene promoter investigated by PCR-RFLP method in all of the samples. Statistical analysis in the group patients and controls were performed by chi-square test and P-values of <0.05 were considered significant.Results: Frequency of homozygous TT was 40% in cases and 46% in control group and frequency of CC was 6% in cases and 5% in the control group and frequency heterozygote TC was 54% in cases and 46% in control group. Genotype frequencies between the two groups showed no significant differences (P>0/05).Conclusion: The result of this study showed that this polymorphism is not more frequent in recurrent pregnancy loss in this population.

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Introduction: Changes in the expression of pseudogenes have been demonstrated to play a role in the pathogenesis of various malignancies in studies. The goal of this study was to find pseudogenes with significant expression alterations in gastric cancer (GC) that could be implicated in the disease's development via the competing endogenous RNAs (ceRNAs) network. Methods: Pseudogenes, mRNAs, and microRNAs whose expression changes considerably in GC specimens were identified using the cancer genome atlas (TCGA) data. The ceRNAs network was constructed using the miRWalk, miRTarBase, and DIANA-LncBase databases. The cox regression test was performed to assess the correlation between candidate genes and patient prognosis using TCGA-derived GC clinical data. Finally, using the RT-qPCR method, the in silico results were evaluated using GC samples and adjacent normals. Results: The ceRNA network revealed that pseudogenes such as RCN1P2, TPM3P9, and HSP90AB3P were most connected to changed mRNAs and microRNAs in GC. The findings of subnet enrichment for each of the pseudogenes mentioned revealed that the related mRNAs are involved in cell proliferation, inflammation, and metastatic pathways. Furthermore, elevated expression of several mRNAs linked to potential pseudogenes was linked to a poor prognosis. The results of RCN1P2, TPM3P9and HSP90AB3P expression levels in TCGA and tissue samples showed that their expression increased significantly in GC. Conclusion: The expression of RCN1P2, TPM3P9, and HSP90AB3P is dramatically enhanced in GC. They can also influence the survival rate of GC patients by regulating pathways involved in cell proliferation, inflammation, and metastasis via the ceRNAs network.