A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.
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Biomedical subjects
Publications and source records attributed to E Elsobky.
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Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, in 371 Turkish probands with non-syndromic sensorineural hearing loss. Two frequently detected mutations, 35delG and delE120, were shown to have single origins based on the conserved genotypes of two closely linked microsatellite and five single nucleotide polymorphism markers. Carrier frequencies of 35delG and delE120 in Egypt and Turkic populations of the Near East provide insights about the origin of these two mutations.
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PURPOSE: We determined whether there is a significant relationship between the spatial anatomy of the lower pole on preoperative excretory urography and stone fragment clearance after shock wave lithotripsy. MATERIALS AND METHODS: The anatomical factors affecting lower pole stone clearance after shock wave lithotripsy were evaluated retrospectively in 108 patients. Stone-free status was assessed by renal computerized tomography with or without renal ultrasound. The stone-free rate at 3 months was correlated with lower pole infundibular length and width in mm. as well as with the lower pole infundibulopelvic angle in degrees. The statistical significance of each lower pole anatomical factor as well as other stone, renal and treatment factors were correlated with the stone-free rate using the Mann-Whitney and chi-square tests. RESULTS: Three months after shock wave lithotripsy 79 patients (73.1%) were free of stones. Mean lower infundibular length plus or minus standard deviation was 20.9 +/- 6.56 mm., mean infundibular width was 5.65 +/- 2.34 mm. and the mean lower pole infundibulopelvic angle was 48.33 +/- 14.84 degrees. In 49 (45.4%) and 59 (54.6%) patients infundibular length was greater than 3 cm. and 3 cm. or less, respectively. Infundibular width was greater than 5 mm. and 5 mm. or less in 45 (41.7%) and 63 (58.3%) patients, respectively. No obtuse infundibulopelvic angles were noted. None of the 3 lower pole anatomical factors had any significant impact on the stone-free rate at 3 months. Renal morphology was the only factor significantly affecting the stone-free rate since stone clearance was significantly less in pyelonephritic kidneys (p = 0.0009). CONCLUSIONS: Differences in the intrarenal anatomy of the lower pole have no significant impact on stone clearance after shock wave lithotripsy. Further examination of the lower pole renal anatomy with a search for other contributing factors is still warranted.
OBJECTIVES: To assess the value of extracorporeal shock wave lithotripsy (ESWL) in treating paediatric urolithiasis, and to determine factors that may affect the results. PATIENTS AND METHODS: Using two types of lithotripters (MFL 5000, Dornier MedTech GmbH, Germany, and the Echolith, Toshiba Medical Systems, Japan), 148 children and adolescents (mean age 11.2 years, SD 4.7, range 1-18) were treated for urinary stones. Of these, 137 patients had renal stones and 11 had ureteric stones. The respective mean (SD) stone width and length were 10.2 (4.1) and 12.9 (5.6) mm for renal stones and 7.6 (2.7) and 9.1 (2.7) mm for ureteric stones. The patients were assessed 3 months after treatment and the results compared using the chi-square test to detect factors that might be associated with the stone-free rate. RESULTS: For those with renal stones, the overall stone-free rate was 86% and the re-treatment rate 64%. The only significant factor associated with the stone-free rate was the transverse diameter of the stone (P = 0.012); there was no significant effect of the type of lithotripter but there was a significant difference in re-treatment rate (P = 0.016) in favour of the MFL 5000. All those with ureteric stones were rendered stone-free and only four required re-treatment. Only one child among those with renal stones developed steinstrasse; this was managed by ureteroscopy and otherwise no other complications were recorded in either group. CONCLUSIONS: ESWL is a safe and effective treatment for paediatric urolithiasis. The stone-free rate is influenced significantly by stone size. The re-treatment rate differed significantly between the electrohydraulic and piezoelectric lithotripters, but the stone-free rate did not.