IntroductionAlport Syndrome has a prevalence of 1 case per 5,000 people and 85% of patients have the X-linked form, where affected males develop renal failure and usually have high-tone sensorineural deafness by age 20. The main abnormality is deficient synthesis of type IV collagen, the main component of basement membranes. Common ocular abnormalities of this syndrome consist of dot-and-fleck retinopathy, posterior polymorphous corneal dystrophy, and anterior lenticonus, but other ocular defects such as cataracts, posterior lenticonus, and retinal detachments have also been reported.Case presentationWe report two cases of anterior lenticonus due to Alport Syndrome and describe clear lens phacoemulsification and foldable intraocular lens implantation as an effective and safe refractive procedure in the four eyes of these two patients.ConclusionAll four eyes of the two patients were in good condition after surgery and achieved satisfactory optical and visual results and had no remarkable complications at six-months follow-up. Clear lens phacoemulsification with foldable intraocular lens implantation can be used as an efficient and safe procedure for vision disorders in these patients.
The development of an effective therapeutic vaccine to induce cancer-specific immunity remains problematic. Recently, a species of intracellular pathogen known as Listeria monocytogenes (Lm) has been used to transfer DNA, RNA and proteins into tumour cells as well as elicit an immune response against tumour-specific antigens. Areas covered: Herein, the authors provide the mechanisms of different Listeria monocytogenes strains, which are potential therapeutic cancer vaccine vectors, in addition to their preclinical and clinical development. They also speculate on the future of Lm-based tumour immunotherapies. The article is based on literature published on PubMed and data reported in clinical trials. Expert opinion: Attenuated strains of Listeria monocytogenes have safely been applied as therapeutic bacterial vectors for the delivery of cancer vaccines. These vectors stimulate MHCI and MHCII pathways as well as the proliferation of antigen-specific T lymphocytes. Several preclinical studies have demonstrated the potency of Lm in intracellular gene and protein delivery in vitro and in vivo. They have also indicated safety and efficiacy in clinical trials. Readers should be aware that the ability of attenuated Lm strains to induce potent immune responses depends on the type of deleted or inactivated Lm virulent gene or genes.
Objectives Development of neutralizing antibodies against factor VIII is the major complication in hemophilia care which makes replacement therapies ineffective. The reports showed that inflammatory cytokines play an important role in inhibitor production. In the present study, the relationship between inhibitor development and the polymorphisms of two cytokine genes was studied in severe hemophiliac patients from Iran. Methods In this case-control study, three polymorphisms of immune regulatory genes [TGF-β (rs1982037) and IL-2 (rs2069762, rs4833248)] were analyzed in 100 Iranian hemophilia A patients divided into 55 inhibitor positive and 45 inhibitor negative patients using Tetra primer ARMS PCR, and DNA sequencing. Results The analysis of polymorphisms in the TGF-β and IL-2 genes showed no association between the genotypes and the production of inhibitors (p> 0.05). Also, comparison of allele frequencies for TGF-β and IL-2 genes between two groups indicated no significant differences associated with the development of FVIII inhibitors (p > 0.05). Discussion In contrast with some reports involving the correlation between polymorphisms of the TGF-β1 and IL-2 genes and inhibitor development in the world, no statistically significant differences in analysis of the alleles and genotypes for TGF-β and IL-2 genes were found between the inhibitor and non-inhibitor Iranian patients. Thus, other genetic markers influencing the immune response to replacement therapy in patients with hemophilia should be identified. Conclusions Regarding our results in molecular predisposition for inhibitor development, further studies of effective genetic markers are required as a prerequisite for the development of novel immunogenic therapeutic approaches in the future.
Background: Inversion of chromosome 9 (inv[9]) is known as one of the most common structural balanced chromosomal variations. Chromosome 9 is highly susceptible to structural rearrangements, specifically to pericentric inversions. Various investigators have posited that inv(9) with different breakpoints could be the cause of several abnormal conditions in individuals, whereas others have considered it a benign variant. To our knowledge, a consensus regarding the effects of this inversion has yet to emerge. Objective: This study aims to discuss the pathogenic/benign effects of inv(9) in all possible clinical conditions detected in the occurrence of this abnormality. Methods: Studies on inv(9) were collected via PubMed, MalaCards, Google Scholar, and NORD, along with the search terms of inv(9), pericentric inv(9), and chromosome 9 variants. Additionally, the incidence of inv(9) and the karyotype and clinical findings of individuals reported with this variant were investigated. Results: The collection of the studies reviewed shows that inv(9) is associated with various conditions such as congenital anomalies, growth retardation, infertility, recurrent pregnancy loss, and cancer. The clinical features associated with this variant in humans vary between growth stages. Further, there have been no shared clinical findings in a specific period. Conclusions: Although there is no conclusive evidence for the pathogenicity of this rearrangement, prenatal genetic counseling on inv(9) and further clinical and molecular studies would be helpful in chromosome 9-related problems.
Background Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into three distinguishable subgroups: infantile, juvenile, and adult-onset types. Objective The aim of this study is to report a novel variant causing AxD and collect all the associated variants with juvenile and adult-onset as well. Methods We report a 2-year-old female with infantile AxD. All relevant clinical and genetic data were evaluated. Search strategy for all AxD types was performed on PubMed. The extracted data include total recruited patients, number of patients carrying a GFAP variant, nucleotide and protein change, zygosity and all the clinical symptoms. Results A novel de novo variant c.217A > G: p. Met73Val was found in our case by whole-exome sequencing. In silico analysis categorized this variant as pathogenic. Totally 377 patients clinically diagnosed with juvenile or adult-onset forms were recruited in these articles, among them 212 patients were affected with juvenile or adult-onset form carrier of an alteration in GFAP. A total of 98 variants were collected. Among these variants c.262C > T 11/212 (5.18%), c.1246C > T 9/212 (4.24%), c.827G > T 8/212 (3.77%), c.232G > A 6/212 (2.83%) account for the majority of reported variants. Conclusion This study highlighted the role of genetic in AxD diagnosing. It also helps to provide more information in order to expand the genetic spectrum of Iranian patients with AxD. Our literature review is beneficial in defining a better genotype–phenotype correlation of AxD disorder.
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