Tyson York (crowdchess7)

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness (CSNB) characterized by specific features such as golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon which is distinguishable by fundoscopy, and retinography. Clinical diagnosis is confirmed through genetic test. Two known genes in pathogenesis of Oguchi disease are SAG and GRK1. A 35-year-old Iranian male exhibiting the clinical features of congenital stationary night blindness, was referred to the genetic clinic of Dr. Farhud, Tehran, Iran in 2012 and examined. Ophthalmic examination including slit-lamp biomicroscopy, perimetry and funduscopy was performed. Additionally, the full-field electroretinography and molecular testing for congenital stationary night blindness were performed. Molecular genetic tests, including the analysis of GSK1 and SAG genes exon-intron boundaries were performed for this patient and his family. According to the sequencing results, we did not find any mutation in GSK1 gene. However, a new homozygote mutation at location chr2233320735, c.517delC, p.P96LfsX28 was identified in exon four of SAG gene. This deletion causes a frame shift mutation, and premature stop codon that results in deletion of about 281 amino acid residues of S-antigen visual arrestin protein (from entire C-terminal). This mutation was also found in patient's parents and one of his sister as heterozygote form. This is the first molecular evidence for SAG gene mutation in an Iranian family affected with Oguchi disease type 1. The identification of the new c.517delC, p.P96LfsX28 mutation in this family with Oguchi disease can confirm the pathogenicity of this variant. Congenital hypothyroidism is one of the most common endocrine disrupters and metabolism, and is one of the most important preventable causes of physical and mental disabilities. This was a case-control study, in which 54468 infants were screened from 2006 to 2014 in Shahre-Kord, western Iran. To describe the data, central and dispersion indices such as mean and standard deviation was used. For modeling, logistic regression was used. All the tests were performed at the significant level of 5%. Overall, 111 cases were diagnosed with hypothyroidism, which made the prevalence value equal to 2 cases per 1000 births. The prevalence in females and males was 1.9 and 2.2 per 1,000 birth, respectively. The odds ratio for this disorder was 4.47(2.42-9.28) for the neonates with a family history of hypothyroidism and 1.72(1.05-2.82) for those born through cesarean. The incidence of this disorder is similar in males and females, and the incidence of this disease in people with a family history is far more than others. The incidence of this disorder is similar in males and females, and the incidence of this disease in people with a family history is far more than others. Circumsporozoite protein (CSP) is one of the most important surface sporozoite antigens in malaria, recently considered as a candidate for vaccination. Considering the importance of CSP, this study was conducted to investigate the polymorphism and genetic diversity of Circumsporozoite Protein ( ) in the southeastern region of Iran during 2015-2016. To investigate polymorphism and genetic diversity, 20 blood samples were collected from patients with , then DNA was extracted and amplified using partial sequence of CSP gene. Polymerase chain reaction (PCR) products were sequenced and compared to sequences from genomic databases using BLAST. Genetic evaluation and phylogenic analysis were performed using MEGA7 and DnaSP5 software's on 38 sequences include 20 sequences of our study and 18 sequences of Gene Bank. Eleven isolates were VK210 genotype and 9 isolates contained VK247. The result of variable segregation nucleotide site indicated that the differentiation of sequences in CSP were 25.67% in our 20 samples w