No abstract

Allergic rhinitis as common airway disease has high prevalence in all peoples worldwide. In allergic diseases, Th2 cells release type 2 cytokines that support the inflammation in airways. All the drugs used for allergic rhinitis do not cure completely, and the choice of drugs according to cost and efficacy is very important in all groups of atopic patients. Therefore, in this study, the effect of commercial drugs on cytokine gene expression has been studied. Male Balb/c mice were divided into six groups. Allergic rhinitis was induced in five of the six groups with ovalbumin, and four of these five groups were treated with salbutamol, budesonide, theophylline, and montelukast. The fifth group was used as positive control group and the sixth group as negative control group. For the survey, RNA was extracted, cDNA was synthesized, and quantitative real‐time PCR was done for 21 genes. The four drugs had different effects on mRNA expression of cytokines (IL‐1b, 2, 4, 5, 7, 8, 9, 11, 12, 13, 17, 18, 22, 25, 31, 33, 37, IFN‐γ, TNF‐α, TGF‐β1, and eotaxin) in the allergic rhinitis groups. Salbutamol can be used during pregnancy and breastfeeding, but it has some side effects. Budesonide in the inhaled form is generally safe in pregnancy. Theophylline cannot control allergic attack in the long run. Montelukast is not useful in the treatment of acute allergic attacks. Immunomodulatory and anti‐inflammatory effects of drugs in control of allergic rhinitis via Th2 cytokines can be new approaches in molecular medicine.

Background : Familial exudative vitreoretinopathy (FEVR) is a rare inherited retinal disorder characterized by the failure of peripheral retinal vascularization at birth. FEVR can cause further pathological changes, such as neovascularization, exudation, haemorrhage, and retinal detachment, in turn. The molecular diagnosis enables a deeper understanding of this disease, so the differentiation of FEVR is important for the accuracy of genetic counselling. However, to date, only six genes have been identified as being responsible for this disease. Methods : Without a known FEVR gene mutation, six families were enrolled in our study between 2016 and 2017 from the clinical practices of ophthalmologists. The referring physician made a diagnosis for FEVR probands, and clinical data and DNA were collected from each participant. Whole-exome sequencing was used to detect the mutations present in the probands. The raw reads were obtained from Illumina Miseq. Then, an in-house bioinformatics pipeline was performed to detect both single nucleotide variants (SNVs) and small insertions/deletions (InDels). The pathogenic mutations were identified with stringent criteria and were further confirmed by conventional methods and cosegregation in families. Results : Using this approach, bioinformatic predictions showed that six mutations were found in our study: three mutations in the known genes of ZNF408, LRP5 and KIF11 and three mutations in the newly identified genes NR2E3,KRT3 and FOXL2 .To test the hypothesis that cases of FEVR are caused by NR2E3, KRT3 and FOXL2 , probands who were diagnosed as FEVR by a physician using wide-field fluorescein angiography were found to not have any mutations in any of the six known FEVR genes. Compared with previous reports, mutations in NR2E3, KRT3 and FOXL2 are believed to cause a broader spectrum of ocular disease. The NR2E3,KRT3 and FOXL2 genes likely play a role in retinal vascular development. Conclusions : This report is the first to describe FEVR mutations in Yunnan province children with FEVR. This study would provide information on the genetic forms of the disease and direct counselling by analysing the genetic testing and genotype-phenotype interaction.