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Clinical and Experimental Reproductive Medicine ; : 253-261, 2023.
Article in English | WPRIM | ID: wpr-999886

ABSTRACT

Objective@#Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. @*Methods@#We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. @*Results@#The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). @*Conclusion@#These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

2.
KMJ-Kuwait Medical Journal. 2010; 42 (4): 295-303
in English | IMEMR | ID: emr-125773

ABSTRACT

To introduce a novel treatment modality in neurosurgery practice in Kuwait and report our preliminary experience with this technique. Prospective study. Ibn Sina hospital, Kuwait. Fifty-seven patients who underwent radiosurgery in the first year of operation in our center. There were 32 [56%] male and 25 [44%] female patients with their age ranging from 12 to 76 years. Thirty five [61.5%] patients presented with benign tumors, 12 [21%] with malignant tumors [high grade gliomas, metastases], 8 patients [14%] with vascular malformations and two [3.5%] with functional disorders [trigeminal neuralgia]. Thirty one [57.2%] patients underwent radiosurgery for their residual lesions after attempted surgical excisions or other procedures. Gamma knife radiosurgery. Outcome of surgery and complications. The mean follow-up period was 9.7 months [range 3- 20 months]. The follow-up was achieved in 54 [95%] patients while three were lost to follow-up. Post-radiosurgery imaging demonstrated decrease in lesion size in 24 patients, no change in 27 and increase in three patients. These three patients were managed with surgery. Patients with trigeminal neuralgia were pain-free without any medications within three months of Gamma knife. Complications were observed in five [9.3%] patients, which were transient and improved after conservative treatment. No mortality was experienced in our patients, related to the procedure. Gamma knife radiosurgery is a safe and an effective treatment alternative to conventional neurosurgery in selected patients with brain disorders


Subject(s)
Humans , Male , Female , Prospective Studies , Glioma , Vascular Malformations , Trigeminal Neuralgia , Neurosurgery , Brain Neoplasms , Magnetic Resonance Imaging , Meningioma , Neuroma, Acoustic , Pituitary Neoplasms , Neoplasm Metastasis
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