A common hormone-sensitive lipase i6 gene polymorphism is associated with decreased human adipocyte lipolytic function

Hereditary factors may be involved in the pathogenesis of type 2 diabetes. A polymorphism in the hormone-sensitive lipase (HSL) gene (HSLi6) is associated with obesity and diabetes, although it is unknown whether the polymorphism is functional and thereby influences lipolysis. We genotyped 355 apparently healthy nonobese male and female subjects for the HSLi6 polymorphism. Allele 5 was found to be the most common allele (allele frequency 0.57). In 117 of the subjects, we measured abdominal subcutaneous fat cell lipolysis induced by drugs acting at various steps in the lipolytic cascade. The lipolysis rate induced by norepinephrine isoprenaline (acting on beta-adrenoceptors), forskolin (acting on adenylyl cyclase), and dibutyryl cyclic AMP (acting on HSL) were all decreased by approximately 50% in allele 5 homozygotes, as compared with noncarriers. Heterozygotes showed an intermediate lipolytic rate. The difference in lipolysis rate between genotypes was more pronounced in men than in women. We conclude that allele 5 of the HSLi6 polymorphism is associated with a marked decrease in the lipolytic rate of abdominal fat cells. This may in turn contribute to the development of obesity.     

Large-scale genotyping of single nucleotide polymorphisms by Pyrosequencingtrade mark and validation against the 5'nuclease (Taqman((R))) assay

Here we present the first large-scale effort at genotyping using a novel sequencing method, Pyrosequencingtrade mark, as a method for genotyping of single nucleotide polymorphisms (SNPs). Pyrosequencingtrade mark genotypes were validated through duplicate analysis of 1,022 genotypes using the PSQ96trade mark instrument for pyrosequencing and TaqMan((R)) for 5'nuclease assays. Identical results were obtained using both methods. In a small pilot study, a pooling strategy using Pyrosequencingtrade mark was successfully tested. We conclude that Pyrosequencingtrade mark is highly efficient and accurate in the analysis of SNPs and represents a promising solution to high-throughput genotyping of large sample populations.     

Perineal leiomyoma mimicking complex Bartholin mass

Leiomyomas of the external genitalia are uncommon soft tissue tumors. We report the case of a 47-year-old woman with perineal leiomyomas mimicking Bartholin's gland mass according to the preoperative magnetic resonance imaging (MRI) findings. Leiomyomas in the vulvar region should be differentiated from complicated Bartholin’s gland cysts and preoperative MRI findings may be misleading. The complete surgical excision should be the choice of treatment     

Scleral buckling technique for longstanding inferior rhegmatogenous retinal detachments with subretinal bands.

We investigated the effectiveness and safety of conventional surgery on longstanding retinal detachments (RD) with subretinal bands (SRB). We found that conventional surgery were safe and effective method in the treatment of inferior chronic rhegmatogenous RD cases with SRB without other signs of advanced proliferative vitreopathy. Further studies with larger numbers and longer follow up are needed.     

The elusive goal of pedigree weights

Non-parametric linkage analysis methods generally involve calculating an allele-sharing statistic for each pedigree in a data set, then standardizing and summing the statistics over pedigrees. Pedigrees of different sizes can be weighted differently in the sum, though it is perhaps most common to weight all standardized pedigree statistics equally. Most other common weighting schemes are based on the number of affected individuals in the pedigree. It is also possible to derive optimal weights, which maximize power to detect linkage under particular trait models. We started by investigating three different analytical and simulation-based methods to calculate power and derive optimal weights. We found that simulation methods produce noticeably more accurate power calculations than the other methods. However, although the different calculation methods give different "optimal" weights, the power at those weights is very similar. That is, the analytical calculation methods are sufficient for finding good weights even though the simulation methods are most appropriate for calculating power. In comparing optimal weights for different trait models, we found that the weights vary quite a bit with the model, such that optimal weights for one model are not necessarily powerful at all for other models. Finally, we studied the power of a number of general weighting schemes, and of some new ones that incorporate information on how closely the affected individuals are related. We were able to find some schemes that performed well in the sense of giving reasonably powerful weights for most of the trait models and pedigree types we considered.     

Therapeutic effect of vitamin D3 in a rat diffuse axonal injury model

We investigated the therapeutic effect of vitamin D3 in a rat diffuse axonal injury model. A total of 60 male Sprague-Dawley rats weighing 175-200 g were anaesthetized and subjected to head trauma using Marmarou's impact-acceleration model. The rats were then separated into two groups; one group was treated with vitamin D3 and the other with saline for up to 4 days after the head trauma. Rats from both groups were killed 1, 3 or 8 days post-injury. The brains were examined histopathologically and scored according to the level of neuronal, vascular and axonal damage. There were no significant differences between the groups after 1 or 3 days, but evaluation after 8 days revealed a significant improvement in the group treated with vitamin D3. Our data indicate that vitamin D3 has a beneficial effect in diffuse axonal injury and may be useful in the management of this condition.     

From cyanosis to diagnosis: A case report on right atrial fibroma in a pediatric patient

A 3-year-old female patient presented with symptoms of cyanosis and intermittent eyelid edema, leading to the discovery of a lobulated mass in the right atrium, obstructing the superior vena cava. Despite the inability to entirely remove the mass due to its origins in the right atrium myocardium and its extension towards the sinoatrial node, successful surgical intervention and subsequent histopathological evaluation identified the mass as a fibroma, and postoperative symptoms were significantly alleviated.     

Lack of association between Vitamin D receptor FokI polymorphism and alopecia areata

Vitamin D receptor (VDR) is expressed in the hair follicle and the lack of it leads to alopecia. In this study, we investigated whether there was a relationship between VDR FokI gene polymorphism and alopecia areata (AA). This is the first study investigating the relationship between VDR gene polymorphism and AA. Twenty-five patients with the extensive forms of AA (alopecia totalis; AT, alopecia universalis; AU and AT/AU) and 27 healthy control subjects were genotyped. Their genotypes were determined by a polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis. The genotypes were classified as FF (absence of the FokI site) and ff (presence of the FokI site). Allele frequencies for F and f alleles were 76.0% and 24.0% in the alopecic group and 72.2% and 27.7% in the control group (p > 0.05). The frequencies for the FF, Ff and ff genotypes were 56.0%, 40.0% and 4.0% in the patient group, and 48.1%, 48.1% and 3.7% in the control group, respectively. No statistically significant differences were observed in the frequencies of the VDR FokI genotype between the patient and the control groups. However, to conclude that there is no relationship between VDR gene polymorphism and AA, the VDR FokI polymorphism should be further studied in other populations, larger groups, and the distribution of other VDR polymorphisms such as BsmI, Tru9I, ApaI, TaqI and polyA.     

Comparison of iodine-125 plaque brachytherapy and gamma knife stereotactic radiosurgery treatment outcomes for uveal melanoma patients

Graefe's Archive for Clinical and Experimental Ophthalmology - To compare the efficacies of iodine-125 brachytherapy (IBT) and gamma knife stereotactic radiosurgery (GKRS) in the treatment of...