RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
Conclusion RNA splicing analysis is an important method to assess the impact of sequence variants on splicing in clinical practice and can contribute to the reclassification of a significant proportion of VUSs. RNA splicing analysis should be considered for genetic disease diagnostics. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: He, W.-B., Xiao, W.-J., Dai, C.-L., Wang, Y.-R., Li, X.-R., Gong, F., Meng, L.-L., Tan, C., Zeng, S.-C., Lu, G.-X., Lin, G., Tan, Y.-Q., Hu, H., Du, J. Tags: Diagnostics Source Type: research

Poor in vitro fertilisation outcomes in genital tuberculosis - Case report
CONCLUSION: Genital tuberculosis remains a significant issue in infertility. Cases are often silent and management is often delayed. IVF is often required due to the longstanding damage caused beforehand yet prognosis may remain poor.PMID:36147182 | PMC:PMC9486627 | DOI:10.1016/j.amsu.2022.104438 (Source: Annals of Medicine)
Source: Annals of Medicine - September 23, 2022 Category: Internal Medicine Authors: Dian Tjahyadi Kevin Dominique Tjandraprawira Source Type: research

Use of kisspeptin to trigger oocyte maturation during in vitro fertilisation (IVF) treatment
Infertility is a major global health issue and is associated with significant psychological distress for afflicted couples. In vitro fertilisation (IVF) utilises supra-physiological doses of stimulatory hormones to induce the growth of multiple ovarian follicles to enable surgical retrieval of several oocytes for subsequent fertilisation and implantation into the maternal endometrium. The supra-physiological degree of ovarian stimulation can lead to potential risks during IVF treatment, including ovarian hyperstimulation syndrome (OHSS) and multiple pregnancy. The choice of oocyte maturation trigger, such as human chorioni...
Source: Frontiers in Endocrinology - September 6, 2022 Category: Endocrinology Source Type: research

Effect of paternal smoking on pre-implantation embryonic development: a prospective cohort study
CONCLUSION: Even if a few differences were observed in the first timing of embryonic events, this study did not highlight a major embryonic and clinical impact of the paternal smoking status.IMPLICATION: The results obtained here are reassuring towards IVF outcomes. As maternal smoking is highly controlled in the IVF patients in this study, we speculate that the sperm selection process may limit the adverse effects of tobacco consumption on embryo development.PMID:36031716 | DOI:10.1071/RD22093 (Source: Reproduction, Fertility, and Development)
Source: Reproduction, Fertility, and Development - August 29, 2022 Category: Reproduction Medicine Authors: Jean Frappier Aur élie Martinaud Julie Barberet C éline Bruno Magali Guilleman C éline Amblot Adrien Guilloteau Patricia Fauque Source Type: research

Effect of paternal smoking on pre-implantation embryonic development: a prospective cohort study
CONCLUSION: Even if a few differences were observed in the first timing of embryonic events, this study did not highlight a major embryonic and clinical impact of the paternal smoking status.IMPLICATION: The results obtained here are reassuring towards IVF outcomes. As maternal smoking is highly controlled in the IVF patients in this study, we speculate that the sperm selection process may limit the adverse effects of tobacco consumption on embryo development.PMID:36031716 | DOI:10.1071/RD22093 (Source: Reproduction, Fertility, and Development)
Source: Reproduction, Fertility, and Development - August 29, 2022 Category: Reproduction Medicine Authors: Jean Frappier Aur élie Martinaud Julie Barberet C éline Bruno Magali Guilleman C éline Amblot Adrien Guilloteau Patricia Fauque Source Type: research

Embryo research: destiny is what counts
The paper by Savulescu et al is timely and the concepts illuminated deserve further reflection.1 Reproductive tissue which includes sperm, oocytes and embryos are commonly treated differently to other human tissue, even when the reproductive potential of these has no possibility of being realised. This unnecessary exceptionalism hampers research in human reproduction, disadvantaging patients and delaying life-changing treatments from being incorporated into clinical practice. In jurisdictions where embryo creation is permitted for clinical purposes, such as in vitro fertilisation (IVF), supernumerary embryos are routinely ...
Source: Journal of Medical Ethics - August 22, 2022 Category: Medical Ethics Authors: Polyakov, A., Rozen, G. Tags: Commentary Source Type: research

Impact of assisted reproduction techniques on the neuro-psycho-motor outcome of newborns: a critical appraisal
J Obstet Gynaecol. 2022 Aug 12:1-5. doi: 10.1080/01443615.2022.2109953. Online ahead of print.ABSTRACTSubfertility and infertility are common problems among couples of reproductive age, and they increasingly require the use of assisted reproductive techniques (ART). Understandably, doubts about the safety of such methods are increasing among future parents. The purpose of this review is to analyse the real impact of ART, such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI), on the health of the unborn baby; in particular, this work is focussed on the problems related to the neuro-psycho-motor ar...
Source: Journal of Obstetrics and Gynaecology - August 12, 2022 Category: OBGYN Authors: Giuseppe Gullo Marco Scaglione Gaspare Cucinella Antonino Perino Vito Chiantera Rosario D'Anna Antonio Simone Lagan à Giovanni Buzzaccarini Source Type: research

Does endometrial thickness affect pregnancy outcomes in isolated male infertility IVF cycles? A retrospective cohort study
J Obstet Gynaecol. 2022 Aug 12:1-5. doi: 10.1080/01443615.2022.2109141. Online ahead of print.ABSTRACTIn our retrospective cohort study, we aimed to determine the role of endometrial thickness (ET) in isolated male factor infertile women in vitro fertilisation/intracytoplasmic sperm injection (IVF/ICSI) fresh embryo cycles. The patients were classified as having an endometrial thickness of <7 mm (n: 80), 7-9.9 mm (n: 335), 10-14 mm (n: 579) and >14 mm (n: 50) according to their ETs on the human chorionic gonadotropin (hCG) day. The overall clinical pregnancy rate was 37.4%, and no significant difference was found bet...
Source: Journal of Obstetrics and Gynaecology - August 12, 2022 Category: OBGYN Authors: Fulya Cagli Mehmet Dolanbay Varol G ülseren Ayse Disli Gurler Ercan Mustafa Aygen Source Type: research

Impact of assisted reproduction techniques on the neuro-psycho-motor outcome of newborns: a critical appraisal
J Obstet Gynaecol. 2022 Aug 12:1-5. doi: 10.1080/01443615.2022.2109953. Online ahead of print.ABSTRACTSubfertility and infertility are common problems among couples of reproductive age, and they increasingly require the use of assisted reproductive techniques (ART). Understandably, doubts about the safety of such methods are increasing among future parents. The purpose of this review is to analyse the real impact of ART, such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI), on the health of the unborn baby; in particular, this work is focussed on the problems related to the neuro-psycho-motor ar...
Source: Journal of Obstetrics and Gynaecology - August 12, 2022 Category: OBGYN Authors: Giuseppe Gullo Marco Scaglione Gaspare Cucinella Antonino Perino Vito Chiantera Rosario D'Anna Antonio Simone Lagan à Giovanni Buzzaccarini Source Type: research

Does endometrial thickness affect pregnancy outcomes in isolated male infertility IVF cycles? A retrospective cohort study
J Obstet Gynaecol. 2022 Aug 12:1-5. doi: 10.1080/01443615.2022.2109141. Online ahead of print.ABSTRACTIn our retrospective cohort study, we aimed to determine the role of endometrial thickness (ET) in isolated male factor infertile women in vitro fertilisation/intracytoplasmic sperm injection (IVF/ICSI) fresh embryo cycles. The patients were classified as having an endometrial thickness of <7 mm (n: 80), 7-9.9 mm (n: 335), 10-14 mm (n: 579) and >14 mm (n: 50) according to their ETs on the human chorionic gonadotropin (hCG) day. The overall clinical pregnancy rate was 37.4%, and no significant difference was found bet...
Source: Journal of Obstetrics and Gynaecology - August 12, 2022 Category: OBGYN Authors: Fulya Cagli Mehmet Dolanbay Varol G ülseren Ayse Disli Gurler Ercan Mustafa Aygen Source Type: research

A thrombocyt ák szerepe a reprodukcióban
Orv Hetil. 2022 Aug 7;163(32):1254-1260. doi: 10.1556/650.2022.32530. Print 2022 Aug 7.ABSTRACTIt is well known that platelets play a major role in hemostasis and thrombosis. Beyond these classic functions, the controlled activation of platelets is required in reproduction and immune response. In this review, we attempt to summarize the most important roles of thrombocytes in reproduction. The most recent studies of thrombocyte research provide remarkable insights into the physiological and clinical importance of this cellular fragment. We have summarized the key findings we have taken from the relevant literature - includ...
Source: Orvosi Hetilap - August 7, 2022 Category: General Medicine Authors: Bernadett Nagy Endre Sulyok Ákos Várnagy Andrea Barab ás K álmán Kovács J ózsef Bódis Source Type: research

A thrombocyt ák szerepe a reprodukcióban
Orv Hetil. 2022 Aug 7;163(32):1254-1260. doi: 10.1556/650.2022.32530. Print 2022 Aug 7.ABSTRACTIt is well known that platelets play a major role in hemostasis and thrombosis. Beyond these classic functions, the controlled activation of platelets is required in reproduction and immune response. In this review, we attempt to summarize the most important roles of thrombocytes in reproduction. The most recent studies of thrombocyte research provide remarkable insights into the physiological and clinical importance of this cellular fragment. We have summarized the key findings we have taken from the relevant literature - includ...
Source: Orvosi Hetilap - August 7, 2022 Category: General Medicine Authors: Bernadett Nagy Endre Sulyok Ákos Várnagy Andrea Barab ás K álmán Kovács J ózsef Bódis Source Type: research

A thrombocyt ák szerepe a reprodukcióban
Orv Hetil. 2022 Aug 7;163(32):1254-1260. doi: 10.1556/650.2022.32530. Print 2022 Aug 7.ABSTRACTIt is well known that platelets play a major role in hemostasis and thrombosis. Beyond these classic functions, the controlled activation of platelets is required in reproduction and immune response. In this review, we attempt to summarize the most important roles of thrombocytes in reproduction. The most recent studies of thrombocyte research provide remarkable insights into the physiological and clinical importance of this cellular fragment. We have summarized the key findings we have taken from the relevant literature - includ...
Source: Orvosi Hetilap - August 7, 2022 Category: General Medicine Authors: Bernadett Nagy Endre Sulyok Ákos Várnagy Andrea Barab ás K álmán Kovács J ózsef Bódis Source Type: research