Shokrzadeh Sh, Saidijam M, Dehghan A, Esna-Ashari F, Farimani Sanoee M, Bahmanzadeh M, Alizadeh Z,
Volume 69, Issue 10 (1-2012)
Abstract
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Background: The
techniques used in assisted reproductive technologies have progressed
considerably, but many embryos do not implant after transfer upon the use of
these techniques. One of the causes of infertility is repeated implantation
failure due to decreased endometrial receptivity. Furthermore, in clinical
conditions such as endometriosis and myoma, implantation decreases after embryo
transfer. In this case-control study the expression patterns of HOXA-10 and BTEB1 mRNAs were evaluated at the time
of implantation in patients with myoma and endometriosis.
Methods : In this study performed in Hamadan University of Medical Sciences
during 1389, the cases included 16 patients with endometriosis and myoma (8 in each group) and the
control group consisted of 8 fertile women. Endometrial sampling was performed at mid-secretory
phase. Later, the expression patterns of HOXA-10
and BTEB1
mRNAs were evaluated using a semi-quantitative RT-PCR method.
Results : The optimal PCR cycles determined were 30,
32 and 26 for HOXA10, BTEB1 and β-actin, respectively. Endometrial HOXA-10
and BTEB1 mRNA expression levels (normalized to ß-actin expression) at the time of implantation were significantly
decreased in the endometrium of infertile patients with endometriosis compared
with that of healthy fertile controls (P<0.05).
A similar pattern was seen in patients with
myomas for both HOXA10 and BTEB1 genes, (P<0.05).
Conclusion: It seems that lower
expression of HOXA-10 and BTEB1 mRNAs in the implantation window of endometrium that increase normally, could
account for some aspects of infertility in patients with endometriosis and
myoma.
Zohreh Alizadeh, Zohreh Kheradmand, Maryam Bahmanzadeh, Maryam Sohrabi , Farzaneh Esna Ashari, Arash Dehghan Dehghan,
Volume 72, Issue 6 (9-2014)
Abstract
Background: Gonadotropins are commonly used for superovulation in human and animals to retrieve more oocyte and increase chance of pregnancy. Ovarian stimulation in assisted reproduction technology produces lower implantation rates per embryo transferred than natural and ovum donation cycles, suggesting suboptimal endometrial development due to the hormones used to recruit more oocytes. Due to the frequent use of gonadotropins in the treatment of infertility in successive periods, the aim of this study was to determine the endometrial changes in response to repeated ovarian stimulation.
Methods: This experimental interventional study has done in research center of Hamadan university of medical sciences in 2012. NMRI female mice six weeks old were used in this study and divided into 7 groups (5 each). The mice in group 1, 2, 3 and 4 received 1, 2, 3 and 4 times pregnant mare serum gonadotropin (PMSG) and 48 hours later 7.5 IU human chorionic gonadotrophin (hCG) respectively. For each group were considered a control group which received on time gonadortropin injection. The mouses were killed 13-16 hours after hCG injection and middle part of uterine horn cut for histological study using Hematoxylin and Eosin staining. The parameters that studied were surface epithelium of endometrium, glandular epithelium, and endometrial height and axis of uterine gland.
Results: Our results showed that there are no significant differences in glandular epithelium, axis of glands and height of endometrium in experimental groups (P>0.05). The height of surface epithelium showed significant increases after ovarian stimulation in experiment group (P≤0.03). Our results showed that there are no significant differences in glandular epithelium, axis of glands, height of endometrium and height of surface epithelium between control groups and also it's experimental group (P>0.05).
Conclusion: Changes in the height of surface epithelium could be one of the reasons for decrease implantation rates with repeated ovarian stimulation.
Mohammad Miryounesi , Majid Fardaei , Seyyed Mohammad Bagher Tabei, Soudeh Ghafouri-Fard ,
Volume 74, Issue 10 (1-2017)
Abstract
Background: Autosomal recessive polycystic kidney disorder (ARPCKD) is one of the most prevalent hereditary disorders in neonates and children. Its frequency is between 1/6000 to 1/55000 births. In the most severe cases, it can be diagnosed prenatally by the presence of enlarged, echogenic kidneys and oligohydramnios. However, in the milder forms, clinical manifestations are usually detected in neonatal and childhood period. PKHD1 gene located on chromosome 6 is linked with this disorder. About half of detected mutations in this gene are missense ones. The largest protein product of this gene is called the FPC/polyductin complex (FPC). It is a single-membrane spanning protein whose absence leads to abnormal ciliogenesis in the kidneys.
Case presentation: Here we present a 5-year-old female patient affected with ARPCKD. She has been born to a non-consanguineous healthy Iranian parents. No similar disorder has been seen in the family. Prenatal history has been normal. In order to find the genetic background, DNA was extracted from patient's peripheral blood lymphocytes. PKHD1 gene exons and exon-intron boundaries were sequenced using next generation sequencing platform. Two novel variants have been detected in compound heterozygote state in the patient (c.6591C>A, c.8222C>A). Bioinformatics tools predicted these variants to be pathogenic.
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Conclusion: In the present study, we detected two novel variants in PKHD1 gene in a patient with ARPCKD. The relatively mild phenotype of this patient is in accordance with the missense mutations found. Molecular genetic tools can help in accurate risk assessment as well as precise genotype-phenotype correlation establishment in families affected with such disorder to decrease the birth of affected individuals through preimplantation genetic diagnosis or better management of disorder.
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