Association of genetic variability in selected regions in visfatin (NAMPT) gene with anthropometric parameters and dietary composition in obese and non-obese Central-European population

AimsVisfatin (NAMPT/PBEF) is a recently identified adipocytokine which harbors strong insulin-mimetic activity and was reported to be associated with obesity. However, nothing is known about whether visfatin is related to specific nutritional behavior which may result in obesity development. This is the first study focusing on genetic variability of the visfatin gene and its association with circulating visfatin, anthropometric parameters and dietary composition.Materials and MethodsWe analyzed a total of 11 exons and adjacent non-coding regions of the NAMPT gene in 20 extremely obese Czech individuals (mean BMI 52.2 ± 5.0 SD) using direct sequencing and a frequency of rs2302559 was established in the validation cohort of another 605 individuals with completed 7-day food records and complex anthropometric measurements. Serum levels of visfatin, leptin and leptin-receptor were measured in all sequenced individuals and in part of the validation cohort.ResultsThree common polymorphisms were identified, two in non-coding regions (rs78411774 A/C, rs71564769 A/C) and one synonymous SNP in exon 7 (rs2302559 A/G). The rs2302559 showed significant correlation with visfatin serum level throughout the entire study cohort (p < 0.001); there was a significant tendency toward higher visfatin levels in G allele carriers with GG homozygotes having the highest visfatin serum levels. Furthermore, a negative correlation was observed between visfatin and leptin serum level (p = 0.01). No association between investigated SNPs and anthropometric parameters or native dietary composition was observed.ConclusionThis is the first study to demonstrate that the rs2302559 polymorphism in the PBEF gene is related to circulating levels of visfatin. As the SNP is synonymous, we hypothesize it might be linked to another SNP in the PBEF gene which controls visfatin serum levels.     

Three-dimensional morphology of the palate in subjects with unilateral complete cleft lip and palate at the stage of permanent dentition.

OBJECTIVE: Three-dimensional analysis of palate size and shape in patients with complete unilateral cleft lip and palate (UCLP) at the stage of permanent dentition. SUBJECTS: Thirty randomly selected dental casts of boys approximately 15 years old with complete UCLP and 28 dental casts of normal boys of the same age. INTERVENTIONS: All patients underwent lip repair according to Tennison with primary periosteoplasty (mean age 8.5 months) and palate repair by pushback and pharyngeal flap surgery (mean age 4.9 years). MAIN OUTCOME MEASURES: Data on the palate height in 210 defined locations. RESULTS: The palate in patients with UCLP was narrower throughout its whole extent, more anteriorly than posteriorly. From the canines posteriorly, it was also lower, and the difference as compared with controls increased in a posterior direction up to the level of second premolars (up to 30%) and then slightly diminished (to 21% between the first molars). The reduction of area of transverse sections reached 45% between premolars and 39% between first molars. The palate in the anterior portion was highest on the cleft side and in a posterior direction the maximum height of the palate shifted toward the midline and even beyond that line toward the noncleft side. Palatal height did not depend on dentoalveolar arch width. CONCLUSION: The smaller width and height of the palate confirm the substantially reduced space for the tongue in patients with UCLP. The reduction is only slightly larger than in previously examined patients with isolated cleft palate. Palatal vault is asymmetrical, highest anteriorly on the cleft side and posteriorly on the noncleft side.     

Use of recombinant activated factor VII in cardiac surgery for an effective treatment of severe intractable bleeding

Experience gained with administration of supranormal-therapeutic doses (90 microg/kg) of recombinant activated factor VII in 7 cardiac surgery patients is presented. The patients were given recombinant activated factor VII postoperatively for intractable bleeding, 5 of them after surgical revision. Administration of recombinant activated factor VII was associated with significant reduction in blood loss (P < 0.05) and shortening of INR and aPTT in laboratory tests. None of the patients needed reoperation. Administration of recombinant activated factor VII proved highly effective in management of massive hemorrhage in cardiac surgery.     

Cephalometric assessment of cranial abnormalities in patients with acromegaly.

OBJECTIVE AND PATIENTS: Patients with acromegaly (12 women, 26 men) and a control group (36 women, 50 men) were chosen for cephalometry to assess the size, shape and positional characteristics of the craniofacial bones and the upper airways.RESULTS: When compared with the controls, patients of both sexes with acromegaly were found to have significant anomalies in the orofacial skeleton: increased facial height, elongated ascending ramus mandibulae and greater basion-supramentale distance, a negative difference between maxillary and mandibular protrusions, enlarged lower part of the gonion angle and of the angle of inclination of the maxilla, as well as alterations in the neurocranium: enlargement of sella turcica and of sinus frontalis and protrusion of the supraorbital ridges. As for the soft tissues, patients with acromegaly exhibited an elongated soft palate and a diminished angle between the uvular axis and the palatal plane. A comparison between the cephalometric parameters of patients with active acromegaly and those without active disease revealed no significant differences in either sex.CONCLUSION: Patients with acromegaly exhibited an enlargement of all parts of the neurocranium and orofacial bones except the maxilla. The greatest anomaly was seen in the mandible, with greater enlargement of the ascending ramus than of the body of the mandible. The shape of this bone was also altered.     

Plasmodium falciparum STEVOR proteins are highly expressed in patient isolates and located in the surface membranes of infected red blood cells and the apical tips of merozoites

The human parasite Plasmodium falciparum has the potential to express a vast repertoire of variant proteins on the surface of the infected red blood cell (iRBC). Variation in the expression pattern of these proteins is linked to antigenic variation and thereby evasion of host antibody-mediated immunity. The genes in the stevor multigene family code for small variant antigens that are expressed in blood-stage parasites where they can be detected in membranous structures called Maurer's clefts (MC). Some studies have indicated that STEVOR protein may also be trafficked to the iRBC membrane. To address the location of STEVOR protein in more detail, we have analyzed expression in several cultured parasite lines and in parasites obtained directly from patients. We detected STEVOR expression in a higher proportion of parasites recently isolated from patients than in cultured parasite lines and show that STEVOR is trafficked in schizont-stage parasites from the MC to the RBC cytosol and the iRBC membrane. Furthermore, STEVOR protein is also detected at the apical end of merozoites. Importantly, we show that culture-adapted parasites do not require STEVOR for survival. These findings provide new insights into the role of the stevor multigene family during both the schizont and merozoite stages of the parasite and highlight the importance of studying freshly isolated parasites, rather than parasite lines maintained in culture, when investigating potential mediators of host-parasite interactions.