Association between p53 codon 72 [Arg72Pro] polymorphism and primary open-angle glaucoma in iranian patients

Glaucomatous neuropathy is a type of cell death due to apoptosis. The p53 gene is one of the regulatory genes of apoptosis. Recently, the association between the p53 gene encoding for proline at codon 72 and primary open-angle glaucoma [POAG] has been studied in some ethnic groups. This study is the first association analysis of POAG and p53 codon 72 polymorphism in Iranian patients. A cohort of 65 unrelated patients with POAG [age range from 12-62 years, mean +/- SD of 40.16 +/- 17.51 years] and 65 unrelated control subjects [without glaucoma, age range of 14-63 years, mean +/- SD of 35.64 +/- 13.61 years] were selected. In Iranian POAG patients and normal healthy controls, the p53 codon 72 polymorphism in exon 4 was amplified using polymerase chain reaction. The amplified DNA fragments were digested with the BstUI restriction enzyme, and the digestion patterns were used to identify the alleles for the polymorphic site. Comparisons revealed significant differences in allele and genotype frequencies of Pro72Arg between POAG patients and control group. A higher risk of POAG was associated with allele Pro [OR = 2.1, 95% CI = 1.2-3.4] and genotype Pro/Pro [OR = 3.9, 95% CI = 0.13-12.7]. The p53 Pro72 allele was more frequent in Iranian POAG patients than in the control group [P<0.05]. The present findings show that the individuals with the Pro/Pro genotype may be more likely to develop POAG. However, additional studies are necessary to confirm this association.

Prevalence of permanent congenital hypothyroidism in children in Yazd, central Iran

Congenital hypothyroidis is a condition of thyroid hormone deficiency. Approximately 1 in 4000 newborn infants has a deficiency of thyroid function. The aim of this study is determination of the prevalence of permanent and transient congenital hypothyroidism [CH] in Yazd, Iran. From May 2006 to June 2008, 35377 newborns were screened by measuring serum TSH obtained by heel prick. The neonates who had a TSH >/=5mU/L were recalled for measurement of serum T4 and thyroid stimulating hormone [TSH] in venous samples. Based on the results of the secondary measurements [between days 7 and 28], neonates were considered hypothyroid if their T[4] was <6.5 mg/dl and their TSH was >/=10mIU/L. In 22 primarily diagnosed as cases of CH, treatment was discontinued at age 3 years for 4 weeks and T[4] and TSH were measured again. Permanent or transient CH was determined from the results of these tests; Patients with TSH levels >/=5 mIU/l were diagnosed with permanent CH. The incidence of congenital hypothyroidism was found to be 1:1608 with a female to male ratio of 0.69:1. In 22 patients with CH, 10 patients were diagnosed with permanent CH [45.5%] and 12 with transient hypothyroidism [54.5%]. Permanent CH was associated with higher TSH levels at first measurement than transient hypothyroidism [P-value=0.041]. The rate of transient CH in our study was higher than the comparable worldwide rate, so more and larger studies are needed to find clear information about the etiologic factors of this disease

Outcomes of lensectomy in hereditary lens subluxation

To evaluate the results of pars plana lensectomy in patients with hereditary lens subluxation. Hospital records of patients with hereditary lens subluxation who had undergone pars plana lensectomy at Labbafinejad Medical Center, Tehran-Iran from 1996 to 2003 were reviewed. Patients with more than 6 months of follow up were included. Underlying disorders, best corrected visual acuity [BCVA] before and after surgery, intraocular pressure [IOP], postoperative refraction and complications were evaluated. Overall, records of 87 eyes of 49 patients including 27 male and 22 female subjects were reviewed. Mean follow up duration was 20 +/- 18 months. Underlying disorders leading to lens subluxation included Marfan syndrome [79.5%], Weill-Marchesani syndrome [82%], simple ectopia lentis [8.2%], and homocystinuria [4.1%]. The most common indication for surgery was non-correctable refractive error [92.1%]. Mean BCVA was 1.13 LogMAR [20/250] preoperatively, which improved to 0.26 LogMAR [20/30-20/40] postoperatively [P<0.001]. BCVA >/= 20/40 was achieved in 82.8% of cases after surgery. Angle-supported anterior chamber intraocular lens [ACIOL] was implanted in 85.1% of the eyes. Prophylactic band was applied in 63 eyes [72.4%]. Retinal detachment developed in four eyes [4.6%] and was successfully treated. Lensectomy/anterior vitrectomy with implantation of an angle-supported ACIOL in patients with hereditary lens subluxation improves vision significantly without considerable complications