Alhagi Gagnebin (Fabaceae Hedysareae) is a small genus of shrubs or subshrubs distributed in temperate and tropical regions of Asia, Europe, and Africa. The exact number of Alhagi species in Iran has been disputable. Studies showed that morphology, seed protein, and chromosome characters could not clearly delimitate the species boundaries of the genus. In order to determine species boundaries and the population structure of Alhagi species in Iran, eight labeled inter simple sequence repeat (ISSR) primers were used to screen 22 populations including 110 individuals. STRUCTURE, PCoA and clustering analyses of ISSR data were able to clearly split all populations of Alhagi in Iran into two distinct groups. As the populations A. pseudalhagi and A. maurorum jointly formed a group (A. maurorum complex) segregated from those of Alhagi graecorum. Further analyses of A.  https://www.selleckchem.com/products/o-pentagalloylglucose.html  maurorum complex showed a significant molecular difference among the studied populations (PhiPT value = 0.213, P = 0.001) as well as a high amount of variability within populations (79%) indicating frequent genetic exchanges. Structure analysis of complex populations (K = 2) showed no distinct genetic pattern related to their geographical distribution. In this study, Alhagi has retrieved the only two species of Alhagi in Iran; A. graecorum and A. maurorum.Joubert syndrome (JS) is a rare inherited neurodevelopmental condition characterized by hypotonia, ataxia, developmental delay, abnormal eye movements, neonatal respiratory disturbance and unique midbrain-hindbrain malformation, known as the molar tooth sign. JS is a genetically heterogeneous disorder with nearly 35 ciliary genes are implicated in its pathogenesis. AHI1 gene is one of the most frequently mutated gene in JS patients which is accounted for 8-11% of cases, particularly in Arab population. AHI1 encodes a cilium-localized protein with a significant role in mediating vesicle trafficking, ciliogenesis and cell polarity. Here, we report a novel pathogenic variant in AHI1 gene and review previously published mutations in AHI1 gene briefly. Whole exome sequencing was employed to determine the causative mutation in an Iranian Arab family with JS from southwestern Iran. Segregation analysis of the candidate variant in the family members was performed using PCR-Sanger sequencing. This approach found a novel homozygous nonsense variant c.832C > T (p.Gln278Ter) in AHI1. Segregation analysis was consistent with individual's phenotype and an autosomal recessive pattern in the family. The variant residing in a relatively highly conserved region and fulfilled the criteria required to be classified as a pathogenic variant based on American College of Medical Genetics and Genomics guidelines. This study confirms the diagnosis of JS in this family and highlights the efficiency of next-generation sequencing-based technique to identify the genetic causes of hereditary disorders with locus heterogeneity.Toll-like receptors (TLRs) are a family of transmembrane receptors whose signaling control cellular processes of cell proliferation, survival, apoptosis, angiogenesis, remodeling, and repair of tissues. Polymorphisms in TLR genes can change the balance between pro and anti-inflammatory cytokines, modulating the risk of infection, chronic inflammation, and cancer. Although many studies have demonstrated the direct involvement of TLR signaling in the benefit of tumor cells in certain cancers, little is known about the influence of these gene polymorphisms on myeloproliferative neoplasms (MPNs). In this context, the objective of the study was to investigate a possible association between the TLR polymorphisms and the development of MPNs. 167 patients diagnosed with MPN and 222 healthy controls from the same region were evaluated. Genomic DNA was extracted and the TLR2 (rs5743708), TLR4 (rs4986790, rs4986791), TLR9 (rs5743836, rs187084) and JAK2V617F polymorphisms were genotyped by PCR-RFLP. The statistical analysis was performed by OpenEpi and SNPstat software. The JAK2V617F mutation was found in 68.32% of patients. TLR9-1486C/T CT genotype was less frequent in patients with polycythemia vera (PV) (OR 0.39, 95% CI 0.20-0.78, P = 0.025). When haplotype frequencies were analyzed, -1237T/-1486C (TLR9) was also less frequent in men (OR 0.58, 95% CI 0.36-0.94) and JAK negative men patients (OR 0.43, 95% CI 0.21-0.88). We can infer that the TLR9-1486 CT genotype could be associated with protection for PV and the TLR9-1237T/-1486C haplotype, protection for men, as well as for JAK negative men patients with MPN. There were no associations between TLR2 and TLR4 gene polymorphisms and MPN.Fixed-dose prothrombin complex concentrates (PCCs) for the reversal of vitamin K antagonists may decrease the incidence of thromboembolic events, treatment costs, and treatment delays. However, the ideal fixed dose is unknown, with some studies showing inadequate reversal with suboptimal dosing or in patients with a higher international normalized ratio (INR) or weight. This indicates a need for a modified fixed-dose strategy that considers weight and INR. This study was a retrospective chart review comparing efficacy and safety outcomes of the standard variable-dose protocol versus a fixed-dose protocol. The primary outcome was the proportion of patients who achieved INR reversal. Of the total of 113 patients reviewed, INR reversal to  less then  1.5 was achieved in 23 patients (46%) in the variable-dose group versus 27 patients (43%) in the fixed-dose group (P = 0.83). Of the 27 patients with ICH, INR reversal to ≤ 1.3 was achieved in five patients (71%) in the variable dose group versus ten patients (50%) in the fixed-dose group (P = 0.41). The rate of INR reversal did not differ significantly between groups, but the fixed-dose group used less PCCs and had lower treatment costs.The thirteen-lined ground squirrel, Ictidomys tridecemlineatus, is a mammal capable of lowering its Tb to almost 0 °C while undergoing deep torpor bouts over the winter. To decrease its metabolic rate to such a drastic extent, the squirrel must undergo multiple physiological, biological, and molecular alterations including downregulation of almost all nonessential processes. Epigenetic regulation allows for a dynamic range of transient phenotypes, allowing the squirrel to downregulate energy-expensive and nonessential pathways during torpor. DNA methylation is a prominent form of epigenetic regulation; therefore, the DNA methyltransferase (DNMT) family of enzymes were studied by measuring expression and activity levels of the five major proteins during torpor bouts. Additionally, specific cytosine marks on genomic DNA were quantified to further elucidate DNA methylation during hibernation. A tissue-specific response was observed that highlighted variant degrees of DNA methylation and DNMT expression/activity, demonstrating that DNA methylation is a highly complex form of epigenetic regulation and likely one of many regulatory mechanisms that enables metabolic rate depression in response to torpor.