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Hoda Fazaeli, Faezeh Davoodi, Naser Kalhor, Reza Tabatabaii Qomi ,
Volume 16, Issue 3 (March 2018)

Background: One of the most important involved factors in pregnancy occurrence following intrauterine insemination (IUI) is semen sample preparation. Recently, supernatant product of adipose tissue derived mesenchymal stem cells (SPAS) method has been shown to improve semen parameters.
Objective: To compare the effect of preparation methods in order to IUI, SPAS and density gradient centrifugation (DGC).
Materials and Methods: This trial was done on 80 couples with male factor infertility who attend jihad daneshgahi infertility treatment center of Qom province, undergoing ovarian stimulation and IUI cycle. Various semen parameters including motility, count, DNA fragmentation and capacitation were evaluated before and after preparation. The effect of semen preparation methods and influence of various semen parameters on pregnancy occurrence were examined.
Results: The overall clinical pregnancy rate was 17.5% per patient with no miscarriage. The pregnancy rate for DGC and SPAS were 5% (2 of 40) and 30% (12 of 40) respectively. Since there is no significant difference in improving motion parameters between two groups (except recovery of total number of motile spermatozoa), it seems that these parameters alone are not sufficient to predict IUI pregnancy outcome whereas in samples with >25 million motile spermatozoa in inseminate, there was a clear trend for a higher pregnancy rate for the sample processed using SPAS.
Conclusion: Considering SPAS as a new and effective method leading to provide a combination of various improved semen parameters, is expected in near future.

Zahra Kalhori, Malek Soleimani Mehranjani, Mehri Azadbakht, Mohammad Ali Shariaatzadeh,
Volume 16, Issue 4 (April 2018)

Background: Polycystic ovary syndrome (PCOS) is an endocrine disorder featured by insulin resistance and hyperandrogenism. Testosterone enanthate can induce PCOS in mice models.
Objective: We investigated the ovary stereological features along with the oxidative stress and inflammatory factors in mice following PCOS induction using testosterone enanthate.
Materials and Methods: Twelve female NMRI mice (3 wk old) were divided into 2 groups (n=6/each): Control and PCOS. PCOS was induced through daily injections of testosterone enanthate (1 mg/100g subcutaneous s.c for 5 wk). Finally, ovaries were studied stereologically. The serum levels of the follicle-stimulating hormone, luteinizing hormone, testosterone, interleukin-6, and tumor necrosis factor-α were measured using ELISA kit. Serum levels of Malondialdehyde and the antioxidant capacity were measured relatively using thiobarbituric acid and ferric reducing antioxidant power assay.
Results: The mean total volume of ovary and the mean volume of cortex (p<0.001), volume of oocyte in the preantral (p=0.011) and antral follicle (p=0.015), thickness of zona pellucida (p=0.016), the number of antral follicles (p=0.012), the serum levels of follicle-stimulating hormone (p<0.001) and the antioxidant capacity (p=0.020) reduced significantly in the PCOS group compared to the control. The number of primary (p=0.017) and preantral (p=0.006) follicles and the serum levels of testosterone (p<0.001), Luteinizing hormone (p=0.002), Malondialdehyde, Interleukin 6 and Tumor necrosis factor-α (p<0.001) showed a significant increase in the PCOS group compared to the control.
Conclusion: Testosterone enanthate induced PCOS causes stereological features in the ovary, increases the oxidative stress and inflammatory markers in mice.
Mehrdad Talebi, Mohammad Yahya Vahidi Mehrjardi, Kambiz Kalhor, Mohammadreza Dehghani,
Volume 17, Issue 5 (May 2019 2019)

Background: Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, which determines the overall rate of the other reactions in the pathway that converts ammonia to carbamoyl phosphate in the first step of the urea cycle. Carbamoyl phosphate synthetase 1 deficiency (CPS1D), which usually presents as lethal hyperammonemia, is a rare autosomal recessive hereditary disease.
Case: We report a case of a two-day-old female neonate with lethal hyperammonemia.
The newborn infant was presented with hyperammonemia (34.7 𝜇g/ml; reference range 1.1–1.9). In Plasma amino acid analysis, there was a significant elevated levels of alanine (3,004 𝜇mol/L; reference range, 236–410 𝜇mol/L), glutamine (2,256 𝜇mol/L; reference range, 20–107 𝜇mol/L), asparagine (126 𝜇mol/L; reference range, 30–69 𝜇mol/L), glutamic acid (356 𝜇mol/L; reference range, 14–192 𝜇mol/L), aspartic acid (123 𝜇mol/L; reference range, 0–24 𝜇mol/L), and lysine (342 𝜇mol/L; reference range, 114–269 𝜇mol/L). We cannot diagnose the urea cycle disorder (UCD) CPS1D properly
only based on the quantity of biochemical intermediary metabolites to exclude other UCDs with similar symptoms. Following next generation sequencing determined one homozygous mutation in CPS1 gene and also this mutation was determined in her parents. The identified mutation was c.2758G > C; p.Asp920His, in the 23 exon of CPS1. This novel homozygous mutation had not been reported previously.
Conclusion: We applied whole exome sequencing successfully to diagnose the patient with CPS1D in a clinical setting. This result supports the clinical applicability of whole exome sequencing for cost-effective molecular diagnosis of UCDs.

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