The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

neurogenetics - Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from...     

Effect of Tropicamide on Laser Flare Meter Measurements in Patients with Pseudoexfoliation

ABSTRACT

Purpose

To investigate the effect of 1% tropicamide on anterior chamber aqueous flare (ACAF) measurements acquired with laser flare meter in patients with pseudoexfoliation.     

Design and synthesis of novel organometallic complexes using boronated phenylalanine derivatives as potential anticancer agents

Drug design and discovery studies are important because of the prevalence of diseases without available medical cures. New anticancer agents are particularly urgent because of the high mortality rate associated with cancer. A series of mononuclear gold (III) and platinum (II) complexes based on boronated phenylalanine (BPA) were designed and synthesized using 4,4’-dimethyl-2,2’-dipyridyl (L1) or 1,10-phenanthroline-5,6-dion (L2) ligands to obtain promising anticancer drug candidates. Proton nuclear magnetic resonance, infrared, mass spectrometry, and elemental analyses were utilized for chemical characterizations. Cell viability, cancer cell colony formation, endothelial tube formation, and cytoskeleton staining assays were performed using A549 lung adenocarcinoma and human umbilical vein endothelial cells (HUVECs) to investigate preliminary pharmacological activities. L1-based platinum (II) complex (BPA-L1-Pt) was the most promising complex, and has similar activity with the approved chemotherapy drug cis-platinum. Half maximal inhibitory concentration values for BPA-L1-Pt were 9.15 µM on A549s and 16.61 µM on HUVECs; the values for cis-platinum were 5.24 µM on A549s and 23.14 µM on HUVECs. Consequently, further synthesis studies should be performed to boost the cancer cell selectivity feature of BPA by varying metal and ligand types.     

Analyzing and shaping human attentional networks.

In this paper we outline a conception of attentional networks arising from imaging studies as connections between activated brain areas carrying out localized mental operations. We consider both the areas of functional activation (nodes) and the structural (DTI) and functional connections (DCM) between them in real time (EEG, frequency analysis) as important tools in analyzing the network. The efficiency of network function involves the time course of activation of nodes and their connectivity to other areas of the network. We outline landmarks in the development of brain networks underlying executive attention from infancy and childhood. We use individual differences in network efficiency to examine genetic alleles that are related to performance. We consider how animal studies might be used to determine the genes that influence network development. Finally we indicate how training may aid in enhancing attentional networks. Our goal is to show the wide range of methods that can be used to suggest and analyze models of network function in the study of attention.     

Evaluation of Tc-99m(V) DMSA for imaging inflammatory lesions: An experimental study

The present study evaluated^99mTc(V) DMSA as an agent for the visualization of inflammatory lesions in comparison to^99mTc(HI) DMSA and^99mTc-HIG. All three radiopharmaceuticals were prepared with commercial kits.^99mTc(V) DMSA was prepared at neutral pH by the addition of first bicarbonate and then pertechnetate to the kit contents. The labeling efficiency was 99% as determined by ITLC. Abscesses were induced by i.m. injection of 50 μl turpentine into the right thighs of 36 Swiss albino mice. Six days later 3.7 MBq of each radiopharmaceutical was i.v. administered to 12 mice. The mice were sacrificed at 1,3,6 and 24 h later. Scintigrams were obtained with a gamma camera. The abscesses were better visualized on scintigrams with^99mTc(V) DMSA compared to^99mTc(III) DMSA, starting at 1 h. The animals were dissected and the organs were removed, weighed and the radioactivity determined with a gamma counter. The abscess to other tissue ratios were higher with^99mTc(V) DMSA than the other radiopharmaceuticals. The max. abscess/muscle ratios were 9.46 ± 3.20 (24 h), 4.19 ± 1.39 (6 h) and 5.98 ± 1.17 (24 h) and max. abscess/blood ratios were 6.22 ± 1.41, 4.09 ± 0.84 and 0.914 ± 0.351 all at 24 h for^99mTc(V) DMSA,^99mTc(III) DMSA and^99mTc-HIG, respectively. Experimental arthritis was produced in 6 New Zealand white rabbits by intra-articular injection of ovalbumin. Four days later 37 MBq of^99mTc(V) DMSA and^99mTc-HIG were each i.v. administered to 3 rabbits. Scintigrams obtained at 1, 3, 6, and 24 h clearly demonstrated arthritic joints. ROFs over arthritic joints were compared to contralateral normal joints (A/C). The max. A/C ratios were 2.10 ± 0.31 (3 h) and 2.92 ± 0.99 (24 h) for^99mTc(V) DMSA and^99mTc-HIG, respectively. Our results indicated the feasibility of imaging inflammatory lesions with^99mTc(V) DMSA.     

Stoma Adjustable Silicone Gastric Banding versus Vertical Banded Gastroplasty for the Treatment of Morbid Obesity

Background: Among gastric restrictive operations, the procedure of choice is still controversial. The aim of this study is to compare the results of two different gastric restrictive procedures: vertical banded gastroplasty (VBG) and stoma adjustable silicone gastric banding (ASGB). Methods: Between 1991 and 1996, 51 patients were treated surgically for morbid obesity: 27 underwent VBG and 24 underwent ASGB. Preoperative body weight (BW), body mass index (BMI) and percentage of ideal body weight (% IBW) were (mean ± SD): 145.7 ± 45.3 kg; 53.9 ± 15.9 kg/m²; 249.1 ± 73.5% respectively in the VBG group. Corresponding figures for the ASBG group were 132.5 ± 22.7 kg; 46.9 ± 7.8 kg/m² and 207.2 ± 35.0%. Results: In the VBG group, the median follow-up period was 26 months (range: 7-47). Eighteen months after the operation BW, BMI, % IBW and percentage of excess weight loss (% EWL) were 85.5 ± 26.8 kg, 31.9 ± 9.8 kg/m², 145.4 ± 43.9% and 74 ± 1% respectively. Complications included incisional hernia (n = 1), and bowel obstruction (n = 1). One patient died of acute myocardial infarction on the third postoperative day. In the ASGB group, median follow-up time was 19.7 months (range: 18-26). At 18 months postoperation BW, BMI, % IBW and % EWL values were 86.6 ± 20.6 kg 30.6 ± 6.6 kg/m2 140.6 ± 29.3% and 64 ± 1% respectively. Gastric wall erosion occurred in two patients and the bands had to be removed. These patients underwent VBG 6 months later. Complications encountered in this group were incisional hernia (n = 1), outlet stenosis and reflux esophagitis (n = 1), reservoir leakage (n = 1) and gastrointestinal bleeding (n = 1). Two patients died of pulmonary embolism and acute gastrointestinal bleeding. Conclusions: Weight reduction was not statistically significant between the two groups. ASGB was easier to perform and less invasive than VBG.