• Title/Summary/Keyword: Reproductive genetics

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The Polymorphism of Hypoxia-inducible Factor-1a Gene in Endometrial Cancer

  • Kafshdooz, Leila;Tabrizi, Ali Dastranj;Mohaddes, Seyyed Mojtaba;Kafshdooz, Tayebeh;Akbarzadeh, Abolfazl;Ghojazadeh, Morteza;Gharesouran, Jalal
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.23
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    • pp.10393-10396
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    • 2015
  • Background: Endometral carcinoma is the most common malignant tumor of the female genital tract and the fourth most common cancer in women after breast, colorectal and lung cancers Hypoxia-inducible factor-1 (HIF-1) is a key transcription factor that regulates cellular response to hypoxia HIF-1 plays important roles in the development and progression of cancer through activation of various genes that are involved in crucial aspects of cancer biology, including angiogenesis, energy metabolism, vasomotor function, erythropoiesis, and cell survival. In this study, we aimed to investigate the association between HIF-1 1772 C/T polymorphisms and endometrial cancer. Materials and Methods: 75 patients with endometrial carcinoma and 75 patients whose underwent hysterectomy for non tumoral indication selected for evaluation of HIF-1 1772 C/T polymorphisms by PCR-RFLP and sequencing. Results: For the 1772 C/T polymorphism, the analysis showed that the T allele and genotype TT were significantly associated with endometrial cancer risk. Conclusions: Our results suggest that the C1772T polymorphism of the HIF-1a may be associated with endometrial cancers.

Reproductive performance comparison between local and crossbred sows reared under backyard and farming condition in Rangamati district of Bangladesh

  • Hossain, M.I.;Momin, M.M.;Fakhrul Islam, K.M.;Quader, M.N.;Miah, G.
    • Journal of Embryo Transfer
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    • v.31 no.3
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    • pp.249-254
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    • 2016
  • It is imperious to know the reproductive parameters of the subsisting swine breed for profitable farming in Bangladesh. This study was designed to compare the reproductive parameters of sows at hilly areas between the local and crossbred at farm and backyard level. A total of 116 breedable sows were included. The data on age at puberty, litter size, birth weight, weaning weight, gestation length, interval between farrowing and number of piglets born per sow in local and crossbred sows were determined and direct questionnaire method was used for data collection. The present study revealed that age at puberty between farm and backyard system of crossbred sows was $8.88{\pm}0.153$ and $9.85{\pm}0.221$ months, respectively. The farrowing interval was shorter in crossbred sows which were kept in farming system rather than backyard system. The interval between farrowing and onset of estrus was shorter in crossbred sows. The gestation length was almost similar between backyard and farm condition. The number of litter size per sow per farrowing was $8.45{\pm}0.41$ in crossbred and $7.17{\pm}0.250$ in local pigs at backyard system. The birth weight and weaning weight were more in farm conditions than backyard system. The age at puberty in local breed was lower than the crossbred and litter size was $8.45{\pm}0.407$ in crossbred which was higher than local breed $7.17{\pm}0.250$ in backyard system. These results suggest that reproductive parameters of local sow need to be improved for better production and crossbred sows should be reared for obtaining desired productivity.

Meningeal Hemangiopericytomas and Meningomas: a Comparative Immunohistochemical and Genetic Study

  • Trabelsi, Saoussen;Mama, Nadia;Chourabi, Maroua;Mastouri, Maroua Haddaji;Ladib, Mohamed;Popov, Sergey;Burford, Anna;Mokni, Moncef;Tlili, Kalthoum;Krifa, Hedi;Jones, Chris;Yacoubi, Mohamed Tahar;Saad, Ali;Brahim, Dorra H'mida-Ben
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.6871-6876
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    • 2015
  • Background: The meningeal hemangiopericytoma (MHPC) is a vascular tumor arising from pericytes. Most intracranial MHPCs resemble meningiomas (MNGs) in their clinical presentation and histological features and may therefore be misdiagnosed, despite important differences in prognosis. Materials and Methods: We report 8 cases of MHPC and 5 cases of MNG collected from 2007 to 2011 from the Neuro-Surgery and Histopathology departments. All 13 samples were re reviewed by two independent pathologists and investigated by immunohistochemistry (IHC) using mesenchymal, epithelial and neuro-glial markers. Additionally, we screened all tumors for a large panel of chromosomal alterations using multiplex ligation probe amplification (MLPA). Presence of the NAB2-STAT6 fusion gene was inferred by immunohistochemical staining for STAT6. Results: Compared with MNG, MHPCs showed strong VIM (100% of cases), CD99 (62%), bcl-2 (87%), and p16 (75%) staining but only focal positivity with EMA (33%) and NSE (37%). The p21 antibody was positive in 62% of MHPC and less than 1% in all MNGs. MLPA data did not distinguish HPC from MNG, with PTEN loss and ERBB2 gain found in both. By contrast, STAT6 nuclear staining was observed in 3 MHPC cases and was absent from MNG. Conclusions: MNG and MHPC comprise a spectrum of tumors that cannot be easily differentiated based on histopathology. The presence of STAT6 nuclear positivity may however be a useful diagnostic marker.

Outcomes of preimplantation genetic diagnosis using either zona drilling with acidified Tyrode's solution or partial zona dissection

  • Kim, Hyun Jung;Kim, Chung Hyon;Lee, Soo Min;Choe, Seung Ah;Lee, Joong Yeup;Jee, Byung Chul;Hwang, Doyeong;Kim, Ki Chul
    • Clinical and Experimental Reproductive Medicine
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    • v.39 no.3
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    • pp.118-124
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    • 2012
  • Objective: To review the outcomes of preimplantation genetic diagnosis (PGD) using zona drilling with acid Tyrode's solution (chemical zona pellucida drilling, chemical ZD) and those of partial zona dissection (PZD). Methods: Clinical outcomes of seventy-one couples undergoing 85 PGD cycles from January 2005 to December 2010 were included. Blastocyst formation and the hatching rate, clinical pregnancy rate, ongoing pregnancy rate, implantation rate, and fetal gender ratio of the PZD and chemical ZD groups were compared. Results: Application of PZD resulted in a significantly higher rate of clinical pregnancy (40.7% vs. 15.4%, p=0.022), ongoing pregnancy (35.6% vs. 11.5%, p=0.023), and implantation (18.1% vs. 5.7%, p=0.007) compared with chemical ZD. Among non-transferred embryos, the rate of blastocyst formation on day 5 (49.1% vs. 39.5%, p=0.016) and hatching on day 6 (47.2% vs. 26.5%, p<0.001) were also significantly higher in the PZD group. Conclusion: The mechanical zona dissection (ZD) method showed better outcomes than chemical ZD in terms of the blastocyst development and pregnancy rate. In this study, the fact that chemical ZD was conducted in different period from mechanical method should be considered in interpreting the result.

Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

  • Lee, Seung Ryeol;Lee, Tae Ho;Song, Seung-Hun;Kim, Dong Suk;Choi, Kyung Hwa;Lee, Jae Ho;Kim, Dae Keun
    • Clinical and Experimental Reproductive Medicine
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    • v.48 no.4
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    • pp.283-294
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    • 2021
  • A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

  • Yu, Eun Jeong;Kim, Min Jee;Park, Eun A;Hong, Ye Seul;Park, Sun Ok;Park, Sang-Hee;Lee, Yu Bin;Yoon, Tae Ki;Kang, Inn Soo
    • Journal of Genetic Medicine
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    • v.19 no.1
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    • pp.14-21
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    • 2022
  • Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.