Purpose In view of the genetic risks for the next generation, the importance of careful evaluation of karyotypes and AZF microdeletions in male infertility prior to assisted reproduction is evident. In the present study, it is aimed to investigate the frequency and types of both major chromosomal abnormalities by using standard cytogenetic methods and Y chromosome microdeletions of infertile males with azoospermia and oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in southeast Turkey. Methods A total of 80 infertile males (52 were azoospermic, 25 oligospermic and 3 asthenospermic) were studied for the cytogenetic evaluation and molecular AZF screening program prior to use of assisted reproduction techniques. A detailed history was taken for each man. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Polymerase chain reaction (PCR) amplification by using 15 Y-specific sequence-tagged sites of AZF region was performed to screen the microdeletions in the AZF region of Y chromosome.
Diabetes mellitus, chronic renal failure, and pregnancy are associated with a higher risk of lower urinary tract infection. Therefore, patients in these categories should be monitored carefully for infectious complications.
ABSTRACT.We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal Chromosomal abnormalities in Southeast Turkey abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.
The influence of FSH receptor (FSHR) variants on male infertility is not completely understood. The present investigation is the first screening study for SNP at nucleotide position −29 in the core promoter region and codon 680 in exon 10 of the FSHR and the effect of the serum levels of FSH on male infertility in Southeast Turkey. The SNPs in codon 680 and at position −29 of the FSHR gene were analyzed by PCR-RFLP technique in 240 men with proven fathers, and 270 infertile men (150 nonobstructive azoospermic and 120 severe oligozoospermic). The separate analysis for SNP at nucleotide position −29 did not show any difference in genotypic frequencies and serum FSH levels. The genotype distribution of SNP at position 680 was different but does not influence serum FSH levels. Together the two SNPs form four discrete haplotypes (A-Thr-Asn, G-Thr-Asn, A-Ala-Ser, and G-Ala-Ser) occurring in 10 combinations. A statistically significant difference in the allelic distribution of G-Asn/G-Ser and G-Ser/G-Ser genotype between proven fathers and infertile men but there were not any statistically significant difference in the overall frequency of the four FSHR haplotypes. We conclude that the FSHR haplotype does not associate with different serum FSH levels but it is differently distributed in proven fathers and infertile men.
AMAÇBu çalışmada, penis kırıkların tanı ve tedavisine yaklaşım-lar retrospektif olarak değerlendirildi. GEREÇ VE YÖNTEMOcak 1990 ile Ocak 2009 tarihleri arasında kliniğimize penis kırığı nedeniyle başvuran 107 hasta retrospektif olarak değerlendirildi. Hastaların yaşı, kırığın nedeni, kırığın oluş zamanı, fiziksel inceleme bulguları, radyolojik bulgular, uygulanan tedavi şekli ve ameliyat sonrası komplikasyonlar kaydedildi. Beş hastaya kavernozografi ve 8 hastaya retrograd üretrografi yapıldı. BULGULARCinsel ilişki ve uygunsuz ortamda erekte peniste detüme-sansı sağlamak için elle bükme penis kırığının en sık nedenleri olarak bulundu. Tanı 102 hastada anamnez ve fiziksel incelemeyle kondu. Kavernozografi 5 hastada yapıldı. Üretral yaralanma düşünülen 8 hastaya retrograd üretrog-rafi yapıldı. Yırtıklar 101 hastada cerrahi olarak onarıldı, 6 hastaya ise konservatif tedavi yapıldı. Ameliyattan sonraki 6. ayda yapılan kontrollerde konservatif tedavi yapılan 6 hastanın 3'ünde penil kurvatur gelişirken cerrahi yapılan hastalarda hiçbir komplikasyon gelişmedi. SONUÇAnamnez ve fiziksel inceleme ile kesin tanı konulamayan hastalarda kavernozografi, üretra yaralanması şüphesi olanlara ise üretrografi yapılmalıdır. Penis kırığının erken cerrahi onarımı penis kurvatur gelişimini önlemek ve hızlı iyileşmeyi sağlamak için önerilmektedir.Anahtar Sözcükler: Kavernozografi; konservatif tedavi; penil kı-rık; cerrahi tedavi.
BFP and BFM parameters are also important factors along with the BMI in providing a successful SWL treatment. All the parameters should be considered regarding the success of the treatment and the patients should be informed.
The aim of this study was to retrospectively evaluate the results of pediatric percutaneous nephrolithotomy (PNL) cases, and discuss the results and necessity of non-contrast computerized tomography (CT) in these cases. In all, 48 pediatric patients who underwent PNL were retrospectively evaluated. Before PNL, either intravenous urography or CT was performed. In all patients, we evaluated the PNL time, scopy time with stone burden, and complications. During the PNL procedure, we switched to open surgery in two cases: in one because of renal pelvis perforation and in the other because of transcolonic access. In one patient who was scheduled to undergo PNL, we performed open surgery, primarily because we detected a retrorenal colon with CT. The stone burden in 45 patients who underwent PNL was 445 ± 225 mm(2), the PNL time was 51 ± 23 min, and the scopy time was 6.1 ± 2.7 min. We removed nephrostomy tubes 1-4 days after the procedure. In two patients, 24 h after removal of nephrostomy tubes, we inserted double J stents because of prolonged urine extravasation from the tract. In all, 34 of the 45 patients were stone-free, 5 patients had clinically insignificant stone fragments, and 6 patients had residual stones. PNL is a safe and effective method in the treatment of pediatric patients with kidney stones. Clinical experience is the most important factor in obtaining stone-free results. CT should be performed in all pediatric patients in order to prevent colon perforation.
Ureterorenoscopy can be successfully and safely applied without the need for ureteral dilatation in ureteral pathologies of children.
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