Ultrasound Guided Percutaneous Nephrostomy For Obstructive Uropathy

We retrospectively evaluated the indications and complications in our patients that were performed of percutaneous nephrostomy applications with ultrasonography guidance.We evaluated 371 all patients whom applied percutaneous nephrostomy with ultrasonography guidance between January 2002 and December 2005 were evaluated retrospectively. The demographic data, cause of the obstruction, minor and major complications of patients were discussed.In this period, totally 455 Percutaneous nephrostomies (84 bilaterally, 287 unilaterally) in 371 patients (were placed in 113 females (30.45 %) and 258 males) were placed. The male (69.55%) patients whom mean age of the patients were 32.17 year (range 5 months to 85 years). In 17 of 371 (3.73%) patients, it was determined with antegrade pyelography that nephro stomy catheters were not in the kidney). Total success ratio was 96.37%. Causes of the obstructions were malignant diseases in for 76 patients (20.48%) and were benign diseases in for 295 patients (79.52%). The major complications were determined twenty-four of patients (6.46%). Major complications included macroscopic hematuria which needs transfusion (7 patients), septicemia (14 patients), and retroperitoneal colon perforation with needle (3 patients) were observed in 24 of the 371 patients. Minor complications were observed in 51 of the 371 patients (13.74 %). All of the minor complications were macroscopic hematuria that resolved in less than 24 hours. In conclusion, percutaneous nephrostomy with ultrasonography guidance were found as an effective and, safe and successful method for the drainage of upper urinary tract in the obstructive uropaty

Fine Needle Aspiration Biopsy Results of Thyroid Nodules According to Their Biopsy Indications

We aimed to compare the fine needle aspiration biopsy results of thyroid nodules in two different groups. One group (group A), consisted of thyroid nodules which had sonographically suspicious criteria for malignancy, the other group (group B) was comprised of nodules which were not sonographically suspicious for malignancy, but referred to biopsy according to clinician’s will. In our clinic, a total number of 132 nodules in 118 patients ( range 25-75 years) were biopsied between June 2004 and October 2005. Sex, age, nodule size, palpability of nodule, ultrasonographic features were compared in both groups with respect the cytopathological results. Sensitivity, spesificity, negative and positive predictive values were calculated for each ultrasonographic feature. Malignancy rates and number of nodules that 1 cm or smaller in diameter were significantly higher in group A, the number of palpable nodules were higher in group B. The number of solid, hypoechoic, irregular bordered nodules with central microcalcification and central vascularity seen by Doppler ultrasound were higher in group A.In conclusion; fine needle aspiration biopsy of solitary or dominant nodules in diameter of ≥ 1 cm, have low malignancy rates, if sonographically unsuspicious for malignancy. Thyroid cancer could be detected even in nodules smaller than 1 cm, if the nodule has sonographically suspicious features for malignancy

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations

Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative in probands from each family. Mutation analysis was performed in families showing co-segregation of autosomal recessive SNHL with haplotypes at the DFNB7/11 locus. A total of six different mutations in seven families were identified, including novel missense alterations, p.G444R (c.1330G>A), p.R445C (c.1333C>T), and p.I677T (c.2030T>C), one novel splice site mutation IVS6+2 T>A (c.64+2T>A), and a novel large deletion of approximately 31kb at the 3' region of the gene including exons 19-24, as well as a previously reported nonsense mutation, p.R34X (c.100C>T). All identified mutations co-segregated with autosomal recessive SNHL in all families and were not found in Turkish hearing controls. These results expand the mutation spectrum of TMC1 with five novel mutations and provide data for the significant contribution of TMC1 mutations in hearing loss

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in autosomal-recessive Carnevale, Malpuech, Michels, and oculo-skeletal-abdominal (OSA) syndromes. The gene or genes responsible for these syndromes were heretofore unknown. We report on three individuals from two consanguineous Turkish families with findings characteristic of these syndromes, including facial dysmorphism, periumbilical depression, mixed hearing loss, radioulnar synostosis, and coccygeal appendage. Homozygosity mapping yielded an autozygous region on chromosome 3q27 in both families. In one family, whole exome sequencing revealed a missense mutation, MASP1 c.2059G>A (p.G687R), that cosegregated with the phenotype. In the second family, Sanger sequencing of MASP1 revealed a nonsense mutation, MASP1 c.870G>A (p.W290X), that also cosegregated with the phenotype. Neither mutation was found in 192 Turkish controls or 1200 controls of various other ancestries. MASP1 encodes mannan-binding lectin serine protease 1. The two mutations occur in a MASP1 isoform that has been reported to process IGFBP-5, thereby playing a critical role in insulin growth factor availability during craniofacial and muscle development. These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic period