The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role

Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis, a fundamental feature of gestation and development. A functional polymorphic 19-bp deletion within intron-1 of DHFR has been associated with the risk of common congenital malformations. The present study aimed to evaluate the possible association between DHFR 19-bp deletion polymorphism and susceptibility to NS-CL/P in an Iranian population. Material and Methods The current study recruited 100 NS-CL/P patients and 100 healthy controls. DHFR 19-bp deletion was determined using an allele specific-PCR method. Results We observed the DHFR 19-bp homozygous deletion genotype (D/D) vs. homozygous wild genotype (WW) was more frequent in controls than in NS-CL/P patients (25% vs. 13%), being associated with a reduced risk of NS-CL/P in both codominant (OR=0.33, P=0.027) and recessive (OR=0.45, P=0.046) tested inheritance models. We also stratified the cleft patients and reanalyzed the data. The association trend for CL+CL/P group compared to the controls revealed that the DD genotype in both codominant (OR=0.30, P=0.032) and recessive models (OR=0.35, P=0.031) was associated with a reduced risk of CL+CL/P. Conclusions Our results for the first time suggested the DHFR 19-bp D/D genotype may confer a reduced risk of NS-CL/P and might act as a protective factor against NS-CL/P in the Iranian subjects. .

Recurrence rate with use of intraoperative Mitomycin-C versus Conjunctival Autograft following pterygium excision

To determine the recurrence rate following Conjunctival Autograft versus Mitomycin C for pterygium excision. Fifty Patients in this Randomized Clinical Trial who underwent pterygium excision from July 2013 to October 2013 at Department of Ophthalmology, Ziauddin University Hospital, Keamari, Karachi were included. All patients underwent detailed ophthalmic examination before surgery. Few drops of lidocaine were instilled, subconjunctival xylocaine 2% was injected. The pterygium was then excised from bulabar conjunctiva and peeled off from the corneal surface. Mitomycin C was applied to bare sclera in group A and Conjunctival autograft taken from superior bulbar conjunctiva of same eye was sutured to the bare sclera in group B. Data for pterygium recurrence was collected and analyzed using SPSS version 17. Among the 50 patients operated 64% [n=32] were male and 36% [n=18] female. Their age ranged from 28 - 58 years with mean age 44.8 years. Right eye was affected in 54% [n= 27] patients and left in 46% [n= 23]. In group "A" [intraoperative MMC] conjunctival granuloma was noted in 1[4%], pterygium recurrence 4[16%] and ocular irritation was experienced by 5[20%] patients. In group "B" [CAG] graft retraction was seen in 2[8%], patients, 1[4%] patients experienced persistent redness over the grafted tissue and pterygium recurrence was seen in 2[8%] patient. All of them were followed at day 1, week 1, week 4 and week 12. Both Conjunctival Autograft and Mitomycin C are effective in reducing the recurrence of pterygium but CAG gives better cosmetic results, the only drawback with it is the duration of the procedure