Patients with sickle cell disease (SCD) produce significantly low levels of plasma nitric oxide (NO) during acute vaso-occlusive crisis. In transgenic sickle cell mice, NO synthesized by endothelial nitric oxide synthase (eNOS) enzyme of vascular endothelial cells has been found to protect the mice from vaso-occlusive events. Therefore, the present study aims to explore possible association of eNOS gene polymorphism as a potential genetic modifier in SCD patients. A case control study involving 150 SCD patients and age- and ethnicity-matched 150 healthy controls were genotyped by PCR-restriction fragment length polymorphism techniques for three important eNOS gene polymorphisms-eNOS 4a/b, eNOS 894G>T and eNOS -786T>C. It was observed that SCD patients had significantly higher frequencies of mutant alleles besides heterozygous and homozygous mutant genotypes of these three eNOS gene polymorphisms and low levels of plasma nitrite (NO2) as compared with control groups. The SCD severe group had significantly lower levels of plasma NO2 and higher frequencies of mutant alleles of these three SNPs of eNOS gene in contrast to the SCD mild group of patients. Haplotype analysis revealed that frequencies of one mutant haplotype '4a-T-C' (alleles in order of eNOS 4a/b, eNOS 894G>T and eNOS -786T>C) were significantly high in the severe SCD patients (P<0.0001), whereas the frequency of a wild haplotype '4b-G-T' was found to be significantly high (P<0.0001) in the SCD mild patients, which indicates that eNOS gene polymorphisms are associated with SCD patients in India and may act as a genetic modifier of the phenotypic variation of SCD patients.

BackgroundMixed dentition space analysis forms an important part of orthodontic diagnosis and treatment planning. Regression equations are widely used for mixed dentition analysis which can vary among races. This study aimed to find out the new regression equation in estimating the size of unerupted canines and premolars for Nepalese Brahmins/Chhetris.MethodsHundred Nepalese Brahmins/Chhetris (50 males and 50 females) who met our criteria were selected among the patients attending to the Orthodontic Out-Patient Department, Institute of Medicine, Kathmandu. The mesiodistal widths of all mandibular permanent incisors; maxillary and mandibular canines and premolars were measured and analyzed. The results were also compared with predicted values from the Moyers and the Tanaka and Johnston methods. Correlation and linear regression analyses were performed between the predicted and actual tooth sizes for Nepalese Brahmins/Chhetris and standard regression equations were developed.ResultsNo significant differences were observed when the sum of canine and premolars of one quadrant is compared between sides and sex. Significant and high positive correlations were found between the mandibular incisors and the combined mesiodistal widths of the canines and premolars for the maxillary (r = 0.72) and mandibular (r = 0.73) segments. Significant differences were observed between the measured values from this study and from Moyers (50 % and 75 % probability) and Tanaka-Johnston methods.ConclusionsThe equations and charts commonly used for North American children (50th or 75th percentile) did not accurately predict for our sample, so new regression equations and tables were developed for Nepalese Brahmins/Chhetris children.

MTHFR C677T and FVL G1691A polymorphisms may be risk factors for increased vascular complications in patient with SCD.

The prevalence of undernutrition is high in cerebral palsy children. SGNA can be a reliable tool for assessing nutritional status in children with cerebral palsy and is a simple, comprehensive, noninvasive, and cost-effective tool for screening undernutrition in children of cerebral palsy.

The study revealed a high prevalence of SCD among scheduled caste, backward caste, and tribal communities. Dissemination of study findings, screening, pre-marriage counselling, and pre-natal diagnosis are fundamental to preventing or lowering of birth of sickle cell anaemia children in the affected populations.