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Human infertility

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https://www.readbyqxmd.com/read/29790874/point-of-care-whole-exome-sequencing-of-idiopathic-male-infertility
#1
Khalid A Fakhro, Haitham Elbardisi, Mohamed Arafa, Amal Robay, Juan L Rodriguez-Flores, Alya Al-Shakaki, Najeeb Syed, Jason G Mezey, Charbel Abi Khalil, Joel A Malek, Abdulla Al-Ansari, Sami Al Said, Ronald G Crystal
PurposeNonobstructive azoospermia (NOA) affects 1% of the male population; however, despite state-of-the-art clinical assessment, for most patients the cause is unknown. We capitalized on an analysis of multiplex families in the Middle East to identify highly penetrant genetic causes.MethodsWe used whole-exome sequencing (WES) in 8 consanguineous families and combined newly discovered genes with previously reported ones to create a NOA gene panel, which was used to identify additional variants in 75 unrelated idiopathic NOA subjects and 74 fertile controls...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29789793/modern-myoma-treatment-in-the-last-20-years-a-review-of-the-literature
#2
REVIEW
Ahmed El-Balat, Rudy Leon DeWilde, Iryna Schmeil, Morva Tahmasbi-Rad, Sandra Bogdanyova, Ali Fathi, Sven Becker
Myomas, also known as fibroids, are a specific characteristic of the human species. No other primates develop fibroids. At a cellular level, myomas are benign hyperplastic lesions of uterine smooth muscle cells. There are interesting theoretical concepts that link the development of myomas in humans with the highly specific process of childbirth from an upright position and the resulting need for greatly increased "expulsive" forces during labor. Myomas might be the price our species pays for our bipedal and highly intelligent existence...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29789566/transcriptome-analysis-of-the-adult-human-klinefelter-testis-and-cellularity-matched-controls-reveals-disturbed-differentiation-of-sertoli-and-leydig-cells
#3
Sofia Boeg Winge, Marlene Danner Dalgaard, Kirstine G Belling, Jacob Malte Jensen, John Erik Nielsen, Lise Aksglaede, Mikkel Heide Schierup, Søren Brunak, Niels Erik Skakkebæk, Anders Juul, Ewa Rajpert-De Meyts, Kristian Almstrup
The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty. To identify mechanisms causing the selective destruction of the seminiferous epithelium, we performed RNA-sequencing of 24 fixed paraffin-embedded testicular tissue samples. Analysis of informative transcriptomes revealed 235 differentially expressed transcripts (DETs) in the adult KS testis showing enrichment of long non-coding RNAs, but surprisingly not of X-chromosomal transcripts...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29788175/prevalence-of-xxy-karyotypes-in-human-blastocysts-multicentre-data-from-7549-trophectoderm-biopsies-obtained-during-preimplantation-genetic-testing-cycles-in-ivf
#4
Rossella Mazzilli, Danilo Cimadomo, Laura Rienzi, Antonio Capalbo, Paolo Emanuele Levi Setti, Claudia Livi, Damiano Vizziello, Carlo Foresta, Alberto Ferlin, Filippo Maria Ubaldi
STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected...
May 19, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29787998/repeated-superovulation-increases-the-risk-of-osteoporosis-and-cardiovascular-diseases-by-accelerating-ovarian-aging-in-mice
#5
Jinjin Zhang, Zhiwen Lai, Liangyan Shi, Yong Tian, Aiyue Luo, Zheyuan Xu, Xiangyi Ma, Shixuan Wang
Superovulation procedures and assisted reproductive technologies have been widely used to treat couples who have infertility problems. Although generally safe, the superovulation procedures are associated with a series of complications, such as ovarian hyper-stimulation syndrome, thromboembolism, and adnexal torsion. The role of long-term repeated superovulation in ovarian aging and especially in associated disorders such as osteoporosis and cardiovascular diseases is still unclear. In this study, we sought to determine if repeated superovulation by ten cycles of treatment with pregnant mare serum gonadotropin/human chorionic gonadotropin could affect ovarian reserve, ovarian function, bone density and heart function...
May 22, 2018: Aging
https://www.readbyqxmd.com/read/29783268/lipidomic-components-alterations-of-human-follicular-fluid-reveal-the-relevance-of-improving-clinical-outcomes-in-women-using-progestin-primed-ovarian-stimulation-compared-to-short-term-protocol
#6
Xiaowei Wen, Yanping Kuang, Lixia Zhou, Baofeng Yu, Qiuju Chen, Yonglun Fu, Zheng Yan, Haiyan Guo, Qifeng Lyu, Jun Xie, Weiran Chai
BACKGROUND Increasing the success rate of in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) is a duty of clinicians that has made many seek a variety of protocols. This study was undertaken to use a liquid chromatography-mass spectrometry (LC-MS) to define the alterations of follicular fluid (FF) lipid metabolites in patients undergoing progestin-primed ovarian stimulation (PPOS) compared with short-term protocol, revealing potential correlations between the differentially expressed lipids and ameliorative clinical outcomes...
May 21, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29779926/increased-platelet-factor-4-and-aberrant-permeability-of-follicular-fluid-in-pcos
#7
Chu-Chun Huang, Chia-Hung Chou, Shee-Uan Chen, Hong-Nerng Ho, Yu-Shih Yang, Mei-Jou Chen
BACKGROUND/PURPOSE: Abnormal folliculogenesis is one of the cardinal presentations of polycystic ovarian syndrome (PCOS) and permeability of follicular wall has been proposed to be involved in the normal follicular growth. However, whether or not there is a change in intrafollicular permeability underlies PCOS is unknown. METHODS: This was a tertiary center-based case-control study. From 2014 to 2015, thirteen patients with PCOS who underwent in vitro fertilization-embryo transfer (IVF-ET) were enrolled...
May 17, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29779580/animal-models-of-endometriosis-replicating-the-aetiology-and-symptoms-of-the-human-disorder
#8
REVIEW
Ioannis Simitsidellis, Douglas A Gibson, Philippa T K Saunders
Endometriosis is a chronic incurable disorder that affects 1 in 10 women of reproductive age: associated symptoms include chronic pain and infertility. The aetiology of endometriosis remains poorly understood but patients, clinicians and researchers are all in agreement that new non-surgical therapies are urgently needed to reduce the severity of symptoms. Preclinical testing of drugs requires the development and validation of models that recapitulate the key features of the disorder. In this review we describe the best-validated animal models (primate, rodent, xenograft) and their contributions to our understanding of the factors underpinning the development of symptoms...
June 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29779043/glis1-3-transcription-factors-critical-roles-in-the-regulation-of-multiple-physiological-processes-and-diseases
#9
REVIEW
Anton M Jetten
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. GLIS3 plays a critical role in the regulation of multiple biological processes and is a key regulator of pancreatic β cell generation and maturation, insulin gene expression, thyroid hormone biosynthesis, spermatogenesis, and the maintenance of normal kidney functions...
May 19, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29778921/goat-boule-isoforms-identification-mrna-expression-in-testis-and-functional-study-and-promoter-methylation-profiles
#10
Xiaoyan Zhang, Shuai Yu, Qing Yang, Ke Wang, Sihuan Zhang, Chuanying Pan, Hailong Yan, Ruihua Dang, Chuzhao Lei, Hong Chen, Xianyong Lan
A conserved gene in meiosis, the Boule gene is involved in meiosis and spermatogenesis. The deletion of this gene in males blocks meiosis and results in infertility. Alternative splicing variants of the Boule gene have been identified in humans, bovines, and bats, but in dairy goats remains unknown. This study was therefore to detect splicing variants of the goat Boule gene and explore their potential roles in meiosis. Three isoforms, denoted as Boule-a, Boule-b, and Boule-c, were identified in the testes of goats using real-time PCR (RT-PCR) and cloning sequencing...
May 12, 2018: Theriogenology
https://www.readbyqxmd.com/read/29778391/matrix-metalloproteinases-and-their-inhibitors-in-human-cumulus-and-granulosa-cells-as-biomarkers-for-oocyte-quality-estimation
#11
Alice Luddi, Martina Gori, Camilla Marrocco, Angela Capaldo, Valentina Pavone, Laura Bianchi, Letizia Boschi, Giuseppe Morgante, Paola Piomboni, Vincenzo de Leo
OBJECTIVE: To study the molecular profile of metalloproteinases and their tissue inhibitors in granulosa and cumulus cells in a subset of fertile and infertile women. DESIGN: Molecular study with granulosa and cumulus cells. SETTING: University hospital. PATIENT(S): Forty-four women undergoing assisted reproductive techniques for female infertility factor, with partners having a normal spermiogram and 15 normally fertile women with male partner affected by severe oligoasthenoteratozoospermia or nonobstructive azoospermia...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29774457/vitamin-d-as-a-follicular-marker-of-human-oocyte-quality-and-a-serum-marker-of-in-vitro-fertilization-outcome
#12
Przemysław Ciepiela, Antoni J Dulęba, Ewelina Kowaleczko, Kornel Chełstowski, Rafał Kurzawa
PURPOSE: This study investigated the relationship between the vitamin D [25(OH)D] level in individual follicles and oocyte developmental competence. METHODS: A prospective cohort study in a private infertility center. Infertile women (N = 198) scheduled for intracytoplasmic sperm injection (ICSI) and a single embryo transfer (SET) provided serum samples and 322 follicular fluid (FF) specimens, each from a single follicle on the day of oocyte retrieval. RESULTS: FFs corresponding to successfully fertilized oocytes (following ICSI) contained significantly lower 25(OH)D level compared with those that were not fertilized (28...
May 17, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29757997/tetragonia-tetragonioides-pall-kuntze-regulates-androgen-production-in-a-letrozole-induced-polycystic-ovary-syndrome-model
#13
Bo-Jeong Pyun, Hyun Yang, Eunjin Sohn, Song Yi Yu, Dongoh Lee, Dong Ho Jung, Byoung Seob Ko, Hye Won Lee
Tetragonia tetragonioides (Pall.) Kuntze (TTK) is a medicinal plant traditionally used to treat various diseases such as diabetic, inflammatory, and female-related disorders. Polycystic ovary syndrome (PCOS) is a common endocrinological disorder in women of reproductive age, and hyperandrogenism is a prominent feature of PCOS resulting in anovulation and infertility. In this study, we investigated the effects of a TTK extract on androgen generation and regulation of steroidogenic enzymes in vitro and in vivo...
May 14, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29751163/associations-of-female-exposure-to-bisphenol-a-with-fecundability-evidence-from-a-preconception-cohort-study
#14
Bin Wang, Wei Zhou, Wenting Zhu, Lin Chen, Weiye Wang, Ying Tian, Lisong Shen, Jun Zhang
BACKGROUND: Human exposure to bisphenol A (BPA) is common. The reproductive toxicity of BPA has been well characterized. However, the impact of BPA exposure on fecundability in healthy women is less clear, and evidence from eastern countries is lacking. OBJECTIVES: We aimed to prospectively assess the associations of BPA with female fecundability, as measured by time to pregnancy (TTP). METHODS: From 2013 to 2015, we included 700 Chinese couples attempting pregnancy in two preconception care clinics and followed for 12 months or until a pregnancy occurred...
May 8, 2018: Environment International
https://www.readbyqxmd.com/read/29744474/utilization-of-cryopreserved-sperm-cells-based-on-the-indication-for-storage
#15
Graham Luke Machen, Stephanie E Harris, Erin T Bird, Monica L Brown, Dale A Ingalsbe, Milaida M East, Michelle Reyes, Thomas J Kuehl
Purpose: Cryopreservation of sperm from human semen has been available since the 1950s. The actual utilization of available cryopreservation technology has been infrequently reported. We set out to examine the utilization and outcomes of cryopreserved sperm cells based on the indication for storage. Materials and Methods: A dataset was developed from retrospective review. The purposes for cryopreservation, eventual utilization, and outcomes of use for insemination were recorded...
May 2018: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/29743676/reconstitution-reveals-motor-activation-for-intraflagellar-transport
#16
Mohamed A A Mohamed, Willi L Stepp, Zeynep Ökten
The human body represents a notable example of ciliary diversification. Extending from the surface of most cells, cilia accomplish a diverse set of tasks. Predictably, mutations in ciliary genes cause a wide range of human diseases such as male infertility and blindness. In Caenorhabditis elegans sensory cilia, this functional diversity appears to be traceable to the differential regulation of the kinesin-2-powered intraflagellar-transport (IFT) machinery. Here we reconstituted the first, to our knowledge, functional multi-component IFT complex that is deployed in the sensory cilia of C...
May 9, 2018: Nature
https://www.readbyqxmd.com/read/29739821/c-type-natriuretic-peptide-a-link-between-hyperandrogenism-and-anovulation-in-a-mouse-model-of-polycystic-ovary-syndrome
#17
Adelina M Reis, Kinulpe Honorato-Sampaio
The polycystic ovary (PCO) syndrome (PCOS) is the most common cause of anovulatory infertility in women and is associated with several clinical disorders. Despite the great amount of research in the area, mechanisms involved in the genesis of this syndrome remain poorly understood. In a recent issue of Clinical Science (vol. 132, issue 7, 759-776), Wang and colleagues, highlight the important role of overactivated C-type natriuretic peptide (CNP) and natriuretic peptide receptor 2 (CNP/NPR2) system in preventing oocyte maturation and ovulation in PCOS mice model induced by androgen...
May 16, 2018: Clinical Science (1979-)
https://www.readbyqxmd.com/read/29737216/thyroid-dysfunction-and-semen-quality
#18
Sandro La Vignera, Roberto Vita
Thyroid hormones act on testis in multiple ways and exert their effect on different cell types, including Leydig and Sertoli cells, and germ cells. An excess or deficit of thyroid hormones results in alterations of testis function, including semen abnormalities. More frequently, hyperthyroidism has been associated with reduced semen volume and reduced sperm density, motility, and morphology, whereas hypothyroidism is associated with reduced sperm morphology. Therefore, thyroid function tests should be part of the diagnostic workup of the infertile man...
January 2018: International Journal of Immunopathology and Pharmacology
https://www.readbyqxmd.com/read/29734439/optimization-of-human-semen-extender-components-for-cryopreservation-using-statistical-tools
#19
P M Ramesh, A S Vickram, T B Sridharan, R Parameswari, K Archana, S Nithya, A Mishika
  BACKGROUND: Human sperm cell preservation is an important part of assisted reproductive technology (ART). OBJECTIVE: This study aimed to find the essential and significant components in semen preservation extender required to prolong the shelf life of human spermatozoa. MATERIALS AND METHODS: By using the statistical tool 'Plackett-Burman design' the significant components present in E4 extender (formulated in our previous study) was determined by reducing the unacceptable large number of trial experiments from the full factorial method...
November 2017: Cryo Letters
https://www.readbyqxmd.com/read/29734187/novel-serum-biomarkers-detected-by-protein-array-in-polycystic-ovary-syndrome-with-low-progesterone-level
#20
Qin Zheng, Feifei Zhou, Xinyuan Cui, Mulin Liu, Yulin Li, Shuai Liu, Jichun Tan, Qiu Yan
BACKGROUND/AIMS: Polycystic ovary syndrome (PCOS), characterized by female infertility and metabolic abnormalities, is one of the most common endocrine disorders. The etiology of PCOS remains unknown. The comprehensive analysis of protein alterations in PCOS patients is meaningful for identifying diagnostic biomarkers of PCOS. Here, we explored the clinical value of serum proteins as novel biomarkers to detect PCOS with low progesterone level. METHODS: A total of 43 patients with PCOS and 30 healthy women were enrolled...
May 3, 2018: Cellular Physiology and Biochemistry
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