Screening of family members of children with Familial Mediterranean Fever: true-autosomal and pseudo-autosomal inheritance.

OBJECTIVES: Screening of family members of children with Familial Mediterranean Fever (FMF) has been carried out to detect new potential patients and to analyze the type of inheritance other than autosomal recessive. METHODS: Marenostrin encoding fever gene mutational analysis has been performed in 83 subjects - including 19 newly diagnosed children with FMF and their family members. RESULTS: Fourteen additional patients with FMF were diagnosed by screening family members. Pseudo-dominant and true dominant inheritances were detected in two families respectively, while the rest of the patients exhibited autosomal recessive mode of inheritance. CONCLUSION: Screening the family members of newly diagnosed FMF patients provides the opportunity to reveal undiagnosed new cases and to understand the mode of inheritance.

Serum estradiol levels in infants with and without labial adhesions: the role of estrogen in the etiology and treatment.

No strong evidence has been found that estrogen levels in girls with labial adhesions are lower than in girls without. Therefore, this study was based on the determination of estradiol levels in girls with and without labial adhesions in order to show whether a considerable difference exists between these two groups. Serum estradiol levels were measured in 59 infants with labial adhesions and in 60 healthy infants. No significant age difference was seen between affected infants and controls, with a mean age of 12.7 and 12.4 months, respectively. Serum estradiol levels ranged from 6.5 to 14.3 pg/ml (10.27 +/- 1.897) in those with labial adhesions and from 6.4 to 15.1 pg/ml (10.47 +/- 2.006) in controls, a statistically insignificant difference (p = 0.5764). When taking into consideration the effect of estrogen on wound healing and the fact that the difference in estrogen levels between the infants with and without labial adhesion is not significant, it is concluded that hypoestrogenism does not take place in the development of labial adhesions, but that creams containing estrogen might have a beneficial effect on healing after mechanical separation of the adhesion by enhancing wound reepithelialization.

Bladder wall thickness in healthy school-aged children.

OBJECTIVES: To evaluate the effectiveness of transabdominal ultrasonography for bladder volume and detrusor muscle thickness and to research the relationship of these measurements with age, height, and body mass index. METHODS: We reviewed the records of 244 healthy, school-aged children from February to May 2003. After a complete urologic examination, the weight and height of all children were measured, and their body mass index was determined. Transabdominal ultrasonography with a high-frequency probe was performed to obtain the anterior, posterior, and lateral bladder wall thicknesses. RESULTS: The mean age of the children was 10.7 +/- 3.6 years (range 7 to 15), and the mean bladder volume was 256 cm3 (range 78 to 790). The relationship between bladder volume and age was significant (P = 0.0001, r = 0.568). The mean anterior, posterior, and lateral detrusor thickness was 1.42 mm (range 0.8 to 2.8), 1.57 mm (range 0.7 to 3.1), and 1.49 mm (range 0.6 to 2.6), respectively. The relationships between increasing age and the anterior and posterior wall thicknesses were significant (P <0.05), but the relationship between age and the lateral wall thickness was not (P >0.05). The relationship between bladder volume and body mass index was significant (P = 0.0001, r = 0.2959). A strong positive and significant correlation was found between the anterior (P = 0.0001) and posterior (P = 0.001) wall thicknesses and body mass index, but the correlation between the lateral wall thickness and body mass index was not significant (P = 0.079, r = 0.113). CONCLUSIONS: Strong, positive correlations were found between the anterior and posterior wall detrusor thicknesses and increased age and body mass index, but the same correlations for lateral wall detrusor thickness were not found.

Prediction methods for babies' birth weight using linear and nonlinear regression analysis.

The aim of this study is to determine more accurate prediction methods between linear and non-linear methods for prediction of babies' birth weight among maternal demographic characteristics. Three hundred pregnant women were included in the study. Blood glucose level before and after ingestion of glucose load, age, body mass index, % of change in weight during pregnancy, height, gestational age, parity, and fetal sex were collected as independent variables and baby birth weight as dependent variable. In linear regression, least squares estimation method was used to estimate parameters. Non-linear regression method was performed using neural network model with multilayer perceptrons, back propagation method was preferred as learning algorithm. Coefficient of determination, R2, of the linear regression equation was found 59.8% and the standard error of the estimate was calculated as 325.69 gr. In non-linear regression method R2 value was also found 59.8% and standard error of estimate was calculated as 320.30 gr. According to the results of the present study, one method is not significantly better than the other. When "accuracy in prediction" is aimed, it is better to use the two methods and compare the results, and then decide on the selection of the favourable method.