PURPOSE High myopia is a common genetic variant that severely affects vision. Genes responsible for myopia without linked additional functional defects have not been identified. Mutations in the nyctalopin gene (NYX) located at Xp11.4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1. This study was desig...

Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide. Many Single nucletotide polymorphisms (SNPs) in different genes have been associated with various types of congenital heart defects. NKX 2-5 gene is one among them, which encodes a homeobox-containing transcripti...

The prevalence of adult congenital heart disease (ACHD) has risen markedly over the past 2 decades, with the number of adults now rivaling the number of children with severe defects.1 This is, perhaps, not surprising given that current care allows nearly 90% of infants born with heart defects to thrive into their adult years.1,2 This remarkable triumph is tempered, however, by the realization t...

PURPOSE Mutations in the glutamate receptor metabotropic 6 gene (GRM6) have been identified in patients with congenital stationary night blindness (CSNB1B). High myopia is usually observed in CSNB1B patients. This study tested if any mutations in GRM6 were solely responsible for high myopia. METHODS DNA was prepared from the venous leukocytes of 96 Chinese patients with high myopia (refractio...

Background Intracranial arterial variations are a frequent finding in the general population. Knowledge of these vascular variations has significant clinical impact because some of them predispose patients to development of an aneurysm or cerebrovascular ischemic disease. The purpose of this study was to evaluate the frequency of intracranial vascular variations and associated vascular lesions ...

Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual criterion of finding more mutations in specific genes than expected by chance may require extremely large populations. Heterotaxy (Htx), a congenital heart disease resulting from abnormalities in left-right (LR) body patterning, has feature...

PURPOSE To identify the genetic lesions for congenital coralliform cataract. METHODS Two Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screened by two-point linkage analysis with gene based single nucleotide polymorphisms and microsatellit...

BACKGROUND It is imperative to have reliable and timely methodologies for analysis and monitoring of seed plants in order to determine climate-related plant processes. Moreover, impact of environment on plant fitness is predominantly based on studies of female functions, while the contribution of male gametophytes is mostly ignored due to missing data on pollen quality. We explored the use of i...

Background. Anatomical variations of cystic duct (CD) are frequently unrecognized. It is important to be aware of these variations prior to any surgical, percutaneous, or endoscopic intervention procedures. Objectives. The purpose of our study was to demonstrate the imaging features of CD and its variants using magnetic resonance cholangiopancreatography (MRCP) and document their prevalence in ...

ریم بن یعقوب   استادیار دانشگاه کارتاژ، تونس   [email protected]     تاریخ دریافت: 26/10/1390 تاریخ پذیرش: 23/11/1390     مقاله حاضر بر آن است تا به بررسی استفاده تمثیل به عنوان نوعی از کاربردهای زبان­شناختی بپردازد. در این ساحت از کاربرد زبان­شناختی، تمثیل از توصیف واقعیت­های مرتبط با زندگی روزمره و بازنمود­های اجتماعی ـ که از آنها برگرفته شده­اند ـ استفاده می­کند.   این مقاله در چهارچوب م...