PPAR-gamma2 Pro12Ala polymorphism is associated with weight gain in women with gestational diabetes mellitus

OBJECTIVE: The polymorphisms of peroxisome proliferator-activator receptor-gamma2 (PPAR-gamma2) have been suggested to affect glucose metabolism and weight gain. Both conditions show great variations during pregnancy that makes pregnancy a suitable condition to detect any metabolic abnormalities related to PPAR-gamma2 polymorphisms. The objective of this study is to investigate the prevalence and metabolic impacts of PPAR-gamma2 polymorphism in control pregnant women and in patients with gestational diabetes mellitus (GDM). METHODS: In this case-control study, anthropometric and metabolic variables of 100 non-diabetic pregnant women and of 62 women who were diagnosed as having GDM according to 100 g oral glucose tolerance test (OGTT) were compared on the basis of PPAR-gamma2 polymorphism by univariate analysis of covariance. RESULTS: There were no statistically significant differences in baseline characteristics and the mean 50 g glucose challenge test values of pregnant women in both groups on the basis of PPAR-gamma2 genotype, although patients with Pro12Ala polymorphism were significantly taller in GDM group. The Pro12Ala polymorphism had no effect on 100 g OGTT results of patients with GDM. However, patients with GDM who had Pro12Ala polymorphism gained significantly more weight during their pregnancy. CONCLUSION: The PPAR-gamma2 Pro12Ala polymorphism was observed to have no effect on glucose metabolism in normal pregnant women and women with GDM. However, only the patients with GDM who had this polymorphism gained significantly more weight during their pregnancy. It seems that Pro12Ala polymorphism plays a dynamic and interactive role in the regulation of BMI and glucose homeostasis.     

The Effect of Myoma Uteri and Myomectomy on Sexual Function

IntroductionThis is a report about the effects of myoma uteri and myomectomy on sexual function in women.AimThe aim of this article was to determine the effects of myoma uteri and myomectomy on sexual function in women.MethodThe study was designed as a controlled clinical study in an academic clinical research center. The study patients consisted of 80 women with myoma uteri and 75 control women. Baseline characteristics and properties of the myomas were recorded. A validated questionnaire was used to determine pre- and postoperative sexual function in the patients.Main Outcome MeasureFemale sexual function index (FSFI) scores of the women were recorded before and after surgery.ResultsWomen with myoma uteri had lower FSFI pain and satisfaction scores than women without it, even after correction for possible confounders. Fundal and posterior myomas were associated with pain, whereas only posterior myomas were related to the overall FSFI scores. However, although there was no relation between the volume of the myomas and the FSFI scores, women with a uterine volume over 200 cm³ had significantly lower mean FSFI satisfaction, pain, and total scores. The mean FSFI pain and total scores of the patients improved significantly after undergoing a myomectomy.ConclusionsThe findings of this study suggest that a potential impairment of sexual function exists in women with myomas. This is mainly because of pain during sexual intercourse, although it does not seem to have an effect on either the arousal or orgasmic phases. Furthermore, the performance of a myomectomy may alleviate pain during intercourse, and thereby improve sexual function in the patients. Ertunc D, Uzun R, Tok EC, and Dilek S. The effect of myoma uteri and myomectomy on sexual function. J Sex Med **;**:**–**.     

Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease

Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population, several cases have been reported from all over the world. Canavan disease is caused by a genetic mutation in aspartoacylase gene. We have identified a novel mutation, a homozygous C432+1G>A mutation, in a 10-month-old boy who has a typical Canavan phenotype (without macrocephaly) accompanied by typical brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS) and diffusion magnetic resonance findings. The patient's mother was found to be heterozygous for this mutation. We believe that future studies of aspartoacylase gene in various ethnic groups could lead to a better understanding of Canavan's pathophysiology and gene therapy.     

Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006

We report mutations in influenza A virus (H5N1) strains associated with 2 outbreaks in Turkey. Four novel amino acid changes (Q447L, N556K, and R46K in RNA polymerase and S133A in hemagglutinin) were detected in virus isolates from 2 siblings who died.     

Predictability of hand skill and cognitive abilities from craniofacial width in right- and left-handed men and women: relation of skeletal structure to cerebral function

Recently, a family of homeobox genes involved in brain and craniofacial development was identified. In light of this genetic background, we hypothesized that some functional characteristics of human brain (hand skill, cognition) may be linked to some structural characteristics of human skull (e.g., craniofacial width) in humans. Hand preference was assessed by Oldfield's Handedness Questionnaire. Hand skill was measured by Peg Moving Task. Face width was measured from the anteroposterior cephalograms (x-ray) using right (R) and left (L) zygomatic points. Intelligence "g" was assessed by Cattell's Culture Fair Intelligence Test; the perceptual-verbal ability was assessed by "Finding A's Test"; the spatial ability was assessed by the mental rotation task, in right- and left-handed men and women. The percentages of right-, left-, and mixed-faced subjects were close to those found for paw preference in cats. Women tended to be more right-faced (R--L > 0) and less left-faced (R--L < 0) than men, who tended to be more left-faced and less right-faced than women. R--L face width inversely correlated with L--R PMT (peg moving time) in left-handers; there was a direct relation between these variables in right-handers. Cattell IQ linearly increased with R--L face width in left-handers, negatively correlated in right-handed men and women. Verbal ability inversely related to R--L face width in right- and left-handed men, but directly correlated in right-handed women. The number of correct response on mental-rotation task positively and linearly correlated with R--L face width in left-handers and right-handed women. It was concluded that the structural-functional coupling revealed in the present work may have its origins in parallel development of the craniofacial skeleton and brain under the influence of homeobox genes.     

Functional analysis of cleft lip and palate patients with modified Rakosi method.

OBJECTIVE: The aim of this study was to investigate the mandibular functions of patients with cleft lip and palate (CLP) by means of modified Rakosi Functional Analysis and to test whether there was a risk of tendency to temporomandibular joint disorder when compared with Angle Class I non-CLP patients. DESIGN: Fifteen patients with unilateral CLP with a mean age of 12.2 +/- 1.91 years and randomly selected 15 Angle Class I orthodontic patients with a mean age of 10.5 +/- 2.01 years as a control group. None of the subjects had complaint of symptoms of temporomandibular joint disorder in their histories. All subjects were evaluated using modified Rakosi Functional Analysis method in accordance with a scoring system of the findings. MAIN OUTCOME MEASURES: Intra- and extracapsular clinical functional surveys were taken. A Mann-Whitney U test was used to evaluate the differences between the CLP and non-CLP groups. RESULTS AND CONCLUSION: There was a significant difference (p <.01) between the distributions of the total scores of the two groups. A significant difference (p <.05) in right lateral movement was also observed between the two groups. However, there were no significant but borderline differences in clicking, crepitus, and maximum mouth opening findings between the two groups. Because these results do not explain the reason for the aforementioned differences, further studies seem essential.