Analysis of MTHFR gene C.677C>T and C.1298A>C polymorphisms in Iranian patients with non-syndromic cleft lip and palate

Non-syndromic cleft lip with or without cleft palate [nsCL/P] is one of the most common congenital abnormalities of the orofacial region with a multifactorial etiology. The present study aimed to investigate the association of two common polymorphisms of methylenetetrahydrofolate reductase [MTHFR] gene [c.677C>T and c.1298A>C] with the occurrence of nsCL/P in an Iranian population. Forty-five nsCL/P patients, 43 mothers of patients, and 101 unrelated controls participated in the present study. Analysis of c.677C>T and c.1298A>C polymorphisms in MTHFR gene was conducted using polymerase chain reaction and restriction enzyme digestions. There was no statistical difference in genotype and allele frequencies for c.677C>T variants between patients or their mothers and the control group. However, differences in the frequencies of alleles and genotypes of c.1298A>C polymorphism were statistically significant between patients and control group [P=0.01 for alleles and P=0.005 for genotypes]. The odds ratios [OR] for the CC versus AA homozygotes were 6.1 [95% CI 1.8-20.5] and 4.2 [95% CI 1.1-15.4], in patients and mothers, respectively. We found no association between genetic polymorphism of MTHFR c.677C>T and the risk of nsCL/P in the population studied. Yet the results suggested that c.1298A>C polymorphism of MTHFR gene may be a risk factor for the occurrence of nsCL/P in the Iranian population

Tailgut cyst in an infant with imperforate anus: a case report

Tailgut cyst [TGC] is a rare congenital lesion that originates from remnants of the embryonic post-anal gut. It presents as a multilocular presacral mass mainly in young women. Microscopically, the cyst lining is composed of different types of epithelium such as stratified squamous, transitional, or glandular. We present a term female newborn referred to our hospital for evaluation and management of imperforate anus. During dissection of the presacral space to release the rectum, a multicystic mass adherent to the distal part of rectum was detected and completely excised. Histopathology confirmed the TGC diagnosis. TGC is a very rare lesion, but it should be considered in differential diagnosis of any presacral mass, even in infancy. Complete excision is the preferred treatment and can be done more easily neonatally or in infancy

Unilateral cleft lip and nasal repair: techniques and principles

The Mashhad University of Medical Sciences and the Sheikh Hospital in Mashhad sponsored a Cleft Lip and Palate Workshop 30 April - 1 May 2009. During the Workshop, 6 surgical cases were performed and televised live to the audience attending the conference. Two of those cases were unilateral cleft lip repairs. The surgical technique used to repair these patients by the primary author [JGM] is a hybrid technique. It has evolved over the last decade as a result of prior surgical literature as well as first hand observation of various surgical colleagues. The following manuscript describes the surgical technique used at the Cleft Workshop in a step-wise or atlas-like fashion. The technique portion of the paper describes the repair of the unilateral cleft lip and nasal deformity in roughly the order the first author typically performs the procedure. More importantly, the final section of the paper details the principles that form the foundation for the techniques described