Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations
CONCLUSION: The study reports novel and reported variants in the CFTR gene in CF patients in Pakistani population having distinct phenotypes. It also emphasizes screening suspected Pakistani CF patients for the p. (Met1Thr) variant because of its increased observance and prevalence in the study. Moreover, the findings also signify searching for additional pathogenic variants in the genome of CF patients, which may modify the phenotypes. The findings contribute valuable information for the diagnosis, genetic counseling, and potential therapeutic strategies for CF patients in Pakistan.PMID:38662334 | DOI:10.1007/s11033-024-0...
Source: Molecular Biology Reports - April 25, 2024 Category: Molecular Biology Authors: Nadia Waheed Rehmana Waris Maryam Naseer Ayesha Razzaq Nighat Haider Abid Ali Shah Asmat Ullah Source Type: research
Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study
AbstractThe present prospective cohort study evaluated the prevalence of FSH-R receptor Asn680Ser and Ala307Thr among infertile Indian women and the correlation of these polymorphisms with ART outcomes. Total 804 infertile and 209 fertile controls were enrolled for FSH-R analysis. Correlation of different genotypes with ovarian reserve markers, IVF parameters, and cumulative live birth rates (CLBR) was done among women undergoing IVF. In fertile controls, at 680 position GG (Ser/Ser) was the most common genotype; but among infertile women, all the genotypes were equally distributed. There was no significant difference in o...
Source: Journal of Human Genetics - April 25, 2024 Category: Genetics & Stem Cells Source Type: research
Genes, Vol. 15, Pages 539: Oxidative Stress Biomarkers in Male Infertility: Established Methodologies and Future Perspectives
Lucia Rocco
Male fertility can be affected by oxidative stress (OS), which occurs when an imbalance between the production of reactive oxygen species (ROS) and the body’s ability to neutralize them arises. OS can damage cells and influence sperm production. High levels of lipid peroxidation have been linked to reduced sperm motility and decreased fertilization ability. This literature review discusses the most commonly used biomarkers to measure sperm damage caused by ROS, such as the high level of OS in seminal plasma as an indicator of imbalance in antioxidant activity. The investigated biomarkers inclu...
Source: Genes - April 25, 2024 Category: Genetics & Stem Cells Authors: Filomena Mottola Ilaria Palmieri Maria Carannante Angela Barretta Shubhadeep Roychoudhury Lucia Rocco Tags: Review Source Type: research
DDX20 is required for cell-cycle reentry of prospermatogonia and establishment of spermatogonial stem cell pool during testicular development in mice
Dev Cell. 2024 Apr 22:S1534-5807(24)00227-2. doi: 10.1016/j.devcel.2024.04.002. Online ahead of print.ABSTRACTRNA-binding proteins (RBPs), as key regulators of mRNA fate, are abundantly expressed in the testis. However, RBPs associated with human male infertility remain largely unknown. Through bioinformatic analyses, we identified 62 such RBPs, including an evolutionarily conserved RBP, DEAD-box helicase 20 (DDX20). Male germ-cell-specific inactivation of Ddx20 at E15.5 caused T1-propsermatogonia (T1-ProSG) to fail to reenter cell cycle during the first week of testicular development in mice. Consequently, neither the fou...
Source: Developmental Cell - April 24, 2024 Category: Cytology Authors: Dingfeng Zou Kai Li Luying Su Jun Liu Yan Lu Rong Huang Mengzhen Li Xinyu Mang Qi Geng Pengyu Li Jielin Tang Zhixin Yu Zexuan Zhang Dingyao Chen Shiying Miao Jia Yu Wei Yan Wei Song Source Type: research
Association of lipid profile and obesity in patients with polycystic ovary syndrome
Conclusion. The results showed that abnormal lipid profile and obesity have a significant association with PCOS patients. Regular monitoring and treatment of PCOS patients are required to reduce the risk of infertility, MetS, and CVD.PMID:38656255 | DOI:10.2478/enr-2024-0009 (Source: Endocrine Regulations)
Source: Endocrine Regulations - April 24, 2024 Category: Endocrinology Authors: Sadaf Parveen Saba Khan Mohammad Mustufa Khan Bhavana Gupta Ausaf Ahmad Roshan Alam Source Type: research
DDX20 is required for cell-cycle reentry of prospermatogonia and establishment of spermatogonial stem cell pool during testicular development in mice
Dev Cell. 2024 Apr 22:S1534-5807(24)00227-2. doi: 10.1016/j.devcel.2024.04.002. Online ahead of print.ABSTRACTRNA-binding proteins (RBPs), as key regulators of mRNA fate, are abundantly expressed in the testis. However, RBPs associated with human male infertility remain largely unknown. Through bioinformatic analyses, we identified 62 such RBPs, including an evolutionarily conserved RBP, DEAD-box helicase 20 (DDX20). Male germ-cell-specific inactivation of Ddx20 at E15.5 caused T1-propsermatogonia (T1-ProSG) to fail to reenter cell cycle during the first week of testicular development in mice. Consequently, neither the fou...
Source: Developmental Cell - April 24, 2024 Category: Cytology Authors: Dingfeng Zou Kai Li Luying Su Jun Liu Yan Lu Rong Huang Mengzhen Li Xinyu Mang Qi Geng Pengyu Li Jielin Tang Zhixin Yu Zexuan Zhang Dingyao Chen Shiying Miao Jia Yu Wei Yan Wei Song Source Type: research
Optimization of Multiplex-PCR Technique To Determine Azf Deletions in infertility Male Patients
(Source: International Journal of General Medicine)
Source: International Journal of General Medicine - April 24, 2024 Category: General Medicine Tags: International Journal of General Medicine Source Type: research
Follicular fluid-derived exosomal LncRNA LIPE-AS1 modulates steroid metabolism and survival of granulosa cells leading to oocyte maturation arrest in polycystic ovary syndrome
ConclusionThese findings suggested that the increased expression of LIPE-AS1, facilitated by follicular fluid exosomes, had a significant impact on both oocyte maturation and embryo development. We demonstrated the ceRNA mechanism involving LIPE-AS1, miR-4306, and LHCGR as a regulator of hormone production and metabolism. These findings indicate that LIPE-AS1 is essential in PCOS oocyte maturation and revealed a ceRNA network of LIPE-AS1 and provided new information on abnormal steroid metabolism and oocyte development in PCOS. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - April 24, 2024 Category: Reproduction Medicine Source Type: research
Long-term quality of life of testicular cancer survivors differs according to applied adjuvant treatment and tumour type
ConclusionsThe applied adjuvant treatment and the tumour entity had a significant impact on the long-term QoL of TC survivors, even more than 25 years after the completion of therapy. Both RT and CT had a negative impact compared to survivors treated with RPLND, except for sexual concerns. NSGCT survivors had a lower impairment of QoL compared to seminoma survivors, except in terms of sexual concerns.Implications for Cancer SurvivorsImplications for cancer survivors are to raise awareness of aspects of long-term and late effects on QoL in TC survivors; offer supportive care, such as psycho-oncological support or lifestyl...
Source: Journal of Cancer Survivorship - April 24, 2024 Category: Cancer & Oncology Source Type: research
Environmental pollutants and male infertility: Effects on CatSper
Ecotoxicol Environ Saf. 2024 Apr 22;277:116341. doi: 10.1016/j.ecoenv.2024.116341. Online ahead of print.ABSTRACTInfertility is a growing health concern among many couples worldwide. Men account for half of infertility cases. CatSper, a sperm-specific Ca2+ channel, is expressed on the cell membrane of mammalian sperm. CatSper plays an important role in male fertility because it facilitates the entry of Ca2+ necessary for the rapid change in sperm motility, thereby allowing it to navigate the hurdles of the female reproductive tract and successfully locate the egg. Many pollutants present in the environment have been shown ...
Source: Ecotoxicology and Environmental Safety - April 23, 2024 Category: Environmental Health Authors: Yuxin He Binhui Wang Jian Huang Dalei Zhang Yangyang Yuan Source Type: research
Comparing the efficacy and pregnancy outcome of intrauterine balloon and intrauterine contraceptive device in the prevention of adhesion reformation after hysteroscopic adhesiolysis in infertile women: a prospective, randomized, controlled trial study
CONCLUSION: Inserting a balloon or placing an IUD for one or two months can effectively lower the risk of adhesion recurrence and restore the shape of the uterine cavity. While the therapeutic effect of the balloon was superior to that of the IUD, no significant differences were observed in the one-month and two-month IUD groups.TRIAL REGISTRATION: This research was registered in the Chinese Clinical Trial Registry ( http://www.chictr.org.cn/enIndex.aspx ); Clinical trial registry identification number: ChiCTR-IOR-17,011,943 ( http://www.chictr.org.cn/showprojen.aspx?proj=17979 ). Date of trial registration: July 11, 2017....
Source: Reproductive Biology - April 23, 2024 Category: Reproduction Medicine Authors: HaiXia Ding Honghong Zhang Rui Qiao Ningxia Sun Yixuan Ji Wenjuan Pang Wen Li Qing Zhang Source Type: research
Microfluidics as an emerging paradigm for assisted reproductive technology: A sperm separation perspective
We present various sperm separation microfluidic techniques, categorized as natural and non-natural methods. A few of the recent developments in on-chip fertilization are also discussed.PMID:38652182 | DOI:10.1007/s10544-024-00705-2 (Source: Biomedical Microdevices)
Source: Biomedical Microdevices - April 23, 2024 Category: Biomedical Engineering Authors: Mohammadjavad Bouloorchi Tabalvandani Zahra Saeidpour Zahra Habibi Saeed Javadizadeh Seyed Ahmadreza Firoozabadi Majid Badieirostami Source Type: research
Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans
Cell Mol Life Sci. 2024 Apr 23;81(1):194. doi: 10.1007/s00018-024-05216-0.ABSTRACTSex chromosome aneuploidies are among the most common variations in human whole chromosome copy numbers, with an estimated prevalence in the general population of 1:400 to 1:1400 live births. Unlike whole-chromosome aneuploidies of autosomes, those of sex chromosomes, such as the 47, XXY aneuploidy that causes Klinefelter Syndrome (KS), often originate from the paternal side, caused by a lack of crossover (CO) formation between the X and Y chromosomes. COs must form between all chromosome pairs to pass meiotic checkpoints and are the product ...
Source: Cellular and Molecular Life Sciences : CMLS - April 23, 2024 Category: Cytology Authors: Matteo Lampitto Marco Barchi Source Type: research
Environmental pollutants and male infertility: Effects on CatSper
Ecotoxicol Environ Saf. 2024 Apr 22;277:116341. doi: 10.1016/j.ecoenv.2024.116341. Online ahead of print.ABSTRACTInfertility is a growing health concern among many couples worldwide. Men account for half of infertility cases. CatSper, a sperm-specific Ca2+ channel, is expressed on the cell membrane of mammalian sperm. CatSper plays an important role in male fertility because it facilitates the entry of Ca2+ necessary for the rapid change in sperm motility, thereby allowing it to navigate the hurdles of the female reproductive tract and successfully locate the egg. Many pollutants present in the environment have been shown ...
Source: Ecotoxicology and Environmental Safety - April 23, 2024 Category: Environmental Health Authors: Yuxin He Binhui Wang Jian Huang Dalei Zhang Yangyang Yuan Source Type: research
Comparing the efficacy and pregnancy outcome of intrauterine balloon and intrauterine contraceptive device in the prevention of adhesion reformation after hysteroscopic adhesiolysis in infertile women: a prospective, randomized, controlled trial study
CONCLUSION: Inserting a balloon or placing an IUD for one or two months can effectively lower the risk of adhesion recurrence and restore the shape of the uterine cavity. While the therapeutic effect of the balloon was superior to that of the IUD, no significant differences were observed in the one-month and two-month IUD groups.TRIAL REGISTRATION: This research was registered in the Chinese Clinical Trial Registry ( http://www.chictr.org.cn/enIndex.aspx ); Clinical trial registry identification number: ChiCTR-IOR-17,011,943 ( http://www.chictr.org.cn/showprojen.aspx?proj=17979 ). Date of trial registration: July 11, 2017....
Source: Reproductive Biology - April 23, 2024 Category: Reproduction Medicine Authors: HaiXia Ding Honghong Zhang Rui Qiao Ningxia Sun Yixuan Ji Wenjuan Pang Wen Li Qing Zhang Source Type: research
