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https://www.readbyqxmd.com/read/28600501/hatching-enzymes-disrupt-aberrant-gonadal-degeneration-by-the-autophagy-apoptosis-cell-fate-decision
#1
Tapas Chakraborty, Sipra Mohapatra, Megumi Tobayama, Kayoko Ohta, Yong-Woon Ryu, Yukinori Kazeto, Kohei Ohta, Linyan Zhou, Yoshitaka Nagahama, Takahiro Matsubara
Environmental stressors, gonadal degenerative diseases and tumour development can significantly alter the oocyte physiology, and species fertility and fitness. To expand the molecular understanding about oocyte degradation, we isolated several spliced variants of Japanese anchovy hatching enzymes (AcHEs; ovastacin homologue) 1 and 2, and analysed their potential in oocyte sustenance. Particularly, AcHE1b, an ovary-specific, steroid-regulated, methylation-dependent, stress-responsive isoform, was neofunctionalized to regulate autophagic oocyte degeneration...
June 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28588768/ovarian-function-following-targeted-anti-angiogenic-therapy-with-bevacizumab
#2
Atsushi Imai, Satoshi Ichigo, Kazutoshi Matsunami, Hiroshi Takagi, Ichiro Kawabata
Improvements in cancer therapy have enabled further insight into the long-term effects of treatment, including the highly prevalent gonadal failure. The focus of treatment has been shifted to the preservation of fertility, which may be achieved by preventing ovarian toxicity. To this end, new molecular-targeted agents, including monoclonal antibodies, have been developed and used in a standard procedure for managing different cancers. However, the prolonged antitumor activity of these drugs may cause the emergence of new toxic effects...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28576390/genetic-basis-of-eugonadal-and-hypogonadal-female-reproductive-disorders
#3
REVIEW
Tatiana Trofimova, Daria Lizneva, Larisa Suturina, Walidah Walker, Yen-Hao Chen, Ricardo Azziz, Lawrence C Layman
This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes...
May 9, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28561655/fertility-cardiac-and-orthopedic-challenges-in-survivors-of-adult-and-childhood-sarcoma
#4
Emma R Lipshultz, Ginger E Holt, Ranjith Ramasamy, Raphael Yechieli, Steven E Lipshultz
The combination of cisplatin, doxorubicin, and methotrexate was established as the standard backbone of contemporary osteosarcoma therapy in 1986. Since then, however, further improving the survival of patients with osteosarcoma has been challenging-30% to 40% of patients with osteosarcoma still die of this disease. In addition, these patients often experience loss of fertility at a young age, short- and long-term treatment-related cardiotoxicity, and adverse orthopedic effects from surgical resection of the tumor or endoprosthetic reconstructions...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28493439/very-late-presentation-of-a-disorder-of-sex-development
#5
J M Martins, M Fraga, J Miguens, F Tortosa, B Marques, A D Sousa
Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary to long-standing primary hypogonadism due to 46,XX sex reversal disorder now first diagnosed. Sex development disorders may go unrecognised for the entire life span, despite infertility and long-standing primary gonadic failure may lead to uncommon complications...
May 11, 2017: Andrologia
https://www.readbyqxmd.com/read/28469921/gonadotrophin-abnormalities-in-an-infant-with-lowe-syndrome
#6
Bronwen E Warner, Carol D Inward, Christine P Burren
SUMMARY: This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28424461/a-lack-of-coordination-between-sister-chromatids-segregation-and-cytokinesis-in-the-oocytes-of-b6-y-tir-xy-sex-reversed-female-mice
#7
Jia-Qiao Zhu, Seang Lin Tan, Teruko Taketo
The B6.Y(TIR) (XY) mouse develops bilateral ovaries despite the expression of the testis-determining gene Sry during gonadal differentiation. We reported that the oocytes of the XY female are defective in their cytoplasm, resulting in a failure in the second meiotic division after activation or fertilization in vitro. However, the mechanism of meiotic failure or the cause of infertility remained to be clarified. In the present study, we obtained mature oocytes from XY females by superovulation and confirmed that these oocytes also fail in zygotic development...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28416458/on-the-origins-of-sex-based-differences-in-respiratory-disorders-lessons-and-hypotheses-from-stress-neuroendocrinology-in-developing-rats
#8
REVIEW
Jean-Philippe Rousseau, Luana Tenorio-Lopes, Cécile Baldy, Tara Adele Janes, Stéphanie Fournier, Richard Kinkead
The environment plays a critical role in shaping development and function of the brain. Stress, especially when experienced early in life, can interfere with these processes. In the context of respiratory control, perinatal stress can therefore alter the ability to achieve the "fine-tuning" necessary for proper detection of chemosensory stimuli and production of an adequate motor (respiratory) command. Depending on the timing, intensity, and duration, the detrimental consequences of perinatal exposure to adverse conditions on the respiratory network become manifest at various life stages and can persist into adulthood...
April 14, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28398024/gonadotropin-releasing-hormone-analogues-for-the-prevention-of-chemotherapy-induced-premature-ovarian-failure-in-breast-cancer-patients
#9
Benedetta Conte, Lucia Del Mastro
Since the survival of patients with cancer has significantly improved, chemotherapy-related premature ovarian failure (POF) in young cancer survivors has become a major issue in oncology. POF is associated with several health-related negative consequences, including menopausal symptoms, increased risk of cardiovascular diseases, osteoporosis, sexual disfunction, and infertility1-5. According to the major international guidelines, embryo/oocyte cryopreservation are the standard procedures for fertility preservation in young cancer women6,7...
April 10, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28395560/fertility-preservation-in-women-with-cns-tumors
#10
REVIEW
Alicia Tosoni, Damiano Balestrini, Alba A Brandes
Fertility impairment due to treatments is a major concern for adolescents and young adult patients who survived cancer. Areas covered: Chemotherapy may determine a detrimental effect on ovary function, leading to infertility, and premature ovarian failure. Embryo and oocyte cryopreservation is a standard strategy for fertility preservation; other strategies, such as gonadal tissue cryopreservation and the use of gonadotropin - releasing hormone agonist, are still considered experimental. There are few data available regarding the effect of pregnancy on glioma, which indicates tumor progression during pregnancy in 33-45% of patients...
May 2017: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#11
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W Wlodarski, Wei Chen, George K Kokai, Glenn Anderson, Deborah Morrogh, Dale A Moulding, Shane A McKee, Charlotte M Niemeyer, Annette Grüters, John C Achermann
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28342855/regulation-of-reproduction-via-tight-control-of-gonadotropin-hormone-levels
#12
Djurdjica Coss
Mammalian reproduction is controlled by the hypothalamic-pituitary-gonadal axis. GnRH from the hypothalamus regulates synthesis and secretion of gonadotropins, LH and FSH, which then control steroidogenesis and gametogenesis. In females, serum LH and FSH levels exhibit rhythmic changes throughout the menstrual or estrous cycle that are correlated with pulse frequency of GnRH. Lack of gonadotropins leads to infertility or amenorrhea. Dysfunctions in the tightly controlled ratio due to levels slightly outside the normal range occur in a larger number of women and are correlated with polycystic ovaries and premature ovarian failure...
March 22, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28333032/ethical-moral-and-other-aspects-related-to-fertility-preservation-in-cancer-patients
#13
Bruno Ramalho de Carvalho, Jhenifer Kliemchen, Teresa K Woodruff
Post-treatment fertility emerges as an important issue in the early counseling of individuals with cancer, since survivors may have their quality of life affected by the occurrence of functional failure of the gonads because of antineoplastic therapies. In the context, oncofertility has been developed as an interdisciplinary field of study that combines expertise in reproductive medicine and oncology, to provide strategies aiming to maintain the possibility of future procreation. Today, we have many options and techniques available for the preservation of gametes in men and women...
February 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#14
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: Gonadotropin-releasing hormone neurons originate outside the central nervous system in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323958/jmjd3-is-crucial-for-the-female-avpv-rip-cre-neuron-controlled-kisspeptin-estrogen-feedback-loop-and-reproductive-function
#15
Anying Song, Shujun Jiang, Qinghua Wang, Jianghuan Zou, Zhaoyu Lin, Xiang Gao
The hypothalamic-pituitary-gonadal axis controls development, reproduction, and metabolism. Although most studies have focused on the hierarchy from the brain to the gonad, many questions remain unresolved concerning the feedback from the gonad to the central nervous system, especially regarding the potential epigenetic modifications in hypothalamic neurons. In the present report, we generated genetically modified mice lacking histone H3 lysine 27 (H3K27) demethylase Jumonji domain-containing 3 (JMJD3) in hypothalamic rat-insulin-promoter-expressing neurons (RIP-Cre neurons)...
June 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28293402/treosulfan-based-conditioning-regimen-in-sibling-and-alternative-donor-hematopoietic-stem-cell-transplantation-for-children-with-sickle-cell-disease
#16
Antonio Marzollo, Elisabetta Calore, Manuela Tumino, Marta Pillon, Maria Vittoria Gazzola, Roberta Destro, Raffaella Colombatti, Piero Marson, Tiziana Tison, Anna Colpo, Chiara Mainardi, Maria Gabelli, Maria Paola Boaro, Sara Rossin, Aurora Strano, Nadia Quaglia, Federica Menzato, Giuseppe Basso, Laura Sainati, Chiara Messina
BACKGROUND AND OBJECTIVES: Lack of suitable donors and regimen related toxicity are major barriers for hematopoietic stem cell transplantation (HSCT) in patients with sickle cell disease (SCD). The aim of the study is the assessment of efficacy and toxicity of Treosulfan-based conditioning regimen for SCD also when alternative donors such as mismatched unrelated donor and haploidentical donor are employed. METHODS: We report our single-center experience: 11 patients with SCD received HSCT with a Treosulfan/Thiotepa/Fludarabine/Anti-thymoglobulin conditioning regimen between 2010 and 2015...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28281721/incidence-of-variations-in-human-cadaveric-renal-vessels
#17
Sherif S Hassan, Ehab Abdel Aziz El-Shaarawy, Jane C Johnson, Magdy F Youakim, Rajunor Ettarh
BACKGROUND: Awareness of discrepancies of renal vasculature is crucial for some medical procedures. The present study investigated origin and course of aberrant and accessory renal vessels and any associated variations. MATERIALS AND METHODS: Renal blood vessels of 63 cadavers were examined. Number of renal veins and arteries, arrangement, location where the vasculature attached to the kidneys, and presence of variations were recorded. Incidence of renal vasculature variations was determined, and associations were tested with age at death, sex, and cause of death and whether variations were more common on a specific side...
March 10, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28230720/role-of-vitamin-a-retinoic-acid-in-regulation-of-embryonic-and-adult-hematopoiesis
#18
REVIEW
Ana Cañete, Elena Cano, Ramón Muñoz-Chápuli, Rita Carmona
Vitamin A is an essential micronutrient throughout life. Its physiologically active metabolite retinoic acid (RA), acting through nuclear retinoic acid receptors (RARs), is a potent regulator of patterning during embryonic development, as well as being necessary for adult tissue homeostasis. Vitamin A deficiency during pregnancy increases risk of maternal night blindness and anemia and may be a cause of congenital malformations. Childhood Vitamin A deficiency can cause xerophthalmia, lower resistance to infection and increased risk of mortality...
February 20, 2017: Nutrients
https://www.readbyqxmd.com/read/28224044/mastl-is-essential-for-anaphase-entry-of-proliferating-primordial-germ-cells-and-establishment-of-female-germ-cells-in-mice
#19
Sanjiv Risal, Jingjing Zhang, Deepak Adhikari, Xiaoman Liu, Jingchen Shao, Mengwen Hu, Kiran Busayavalasa, Zhaowei Tu, Zijiang Chen, Philipp Kaldis, Kui Liu
In mammals, primordial germ cells (PGCs) are the embryonic cell population that serve as germ cell precursors in both females and males. During mouse embryonic development, the majority of PGCs are arrested at the G2 phase when they migrate into the hindgut at 7.75-8.75 dpc (days post coitum). It is after 9.5 dpc that the PGCs undergo proliferation with a doubling time of 12.6 h. The molecular mechanisms underlying PGC proliferation are however not well studied. In this work. Here we studied how MASTL (microtubule-associated serine/threonine kinase-like)/Greatwall kinase regulates the rapid proliferation of PGCs...
2017: Cell Discovery
https://www.readbyqxmd.com/read/28222406/leydig-cell-clustering-and-reinke-crystal-distribution-in-relation-to-hormonal-function-in-adult-patients-with-testicular-dysgenesis-syndrome-tds-including-cryptorchidism
#20
Rikke R Soerensen, Trine H Johannsen, Niels E Skakkebaek, Ewa Rajpert-De Meyts
OBJECTIVE: Testicular dysgenesis syndrome (TDS) comprises testicular germ cell cancer, cryptorchidism and some cases of male infertility and hypospadias, which can be linked to impairment of intrauterine gonadal development. Among histological signs of TDS, large Leydig cell (LC) clusters (micronodules) are frequently present. This study aimed to investigate possible associations of LC micronodules with the presence of Reinke crystals and hormonal function of LCs, the latter primarily reflected by serum concentrations of luteinising hormone (LH) and testosterone, in patients with TDS...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
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