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https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#1
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28900338/bulky-pelvic-hodgkin-lymphoma-in-a-prepubertal-girl
#2
Sidharth Totadri, Deepak Bansal, Amanjit Bal, Prema Menon
Pure infra-diaphragmatic presentation is rare in pediatric Hodgkin lymphoma (HL). Isolated pelvic presentation is restricted to case reports in adults. We describe a unique presentation of HL as a primary pelvic disease in an 11-year-old prepubertal girl. She was treated based on the Euronet-Paediatric Hodgkin's Lymphoma Group protocol (EuroNet-PHL-C1) recommendations and assigned to treatment Group 2 (Stage IIB). The patient had bulky disease and a suboptimal response on interim 18-fluorodeoxyglucose positron emission tomography...
April 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28888034/blunting-of-estrogen-modulation-of-cardiac-cellular-chymase-ras-activity-and-function-in-shr
#3
Sarfaraz Ahmad, Xuming Sun, Marina Lin, Jasmina Varagic, Gisele Zapata-Sudo, Carlos M Ferrario, Leanne Groban, Hao Wang
The relatively low efficacy of ACE-inhibitors in the treatment of heart failure in women after estrogen loss may be due to their inability to reach the intracellular sites at which angiotensin (Ang) II is generated and/or the existence of cell-specific mechanisms in which ACE is not the essential processing pathway for Ang II formation. We compared the metabolic pathway for Ang II formation in freshly isolated myocytes (CMs) and non-myocytes (NCMs) in cardiac membranes extracted from hearts of gonadal-intact and ovariectomized (OVX) adult WKY and SHR rats...
September 9, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28884412/mesenchymal-stem-cells-mscs-therapy-for-recovery-of-fertility-a-systematic-review
#4
REVIEW
Zahra Fazeli, Atieh Abedindo, Mir Davood Omrani, Sayyed Mohammad Hossein Ghaderian
In recent years, the mesenchymal stem cells (MSCs) have provided the new opportunities to treat different disorders including infertility. Different studies have suggested that the MSCs have ability to differentiate into germ-like cells under specific induction conditions as well as transplantation to gonadal tissues. The aim of this systematic review was to evaluate the results obtained from different studies on MSCs therapy for promoting fertility. This search was done in PubMed and Science Direct databases using key words MSCs, infertility, therapy, germ cell, azoospermia, ovarian failure and mesenchymal stem cell...
September 7, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28868510/retroperitoneal-fibrosis-clinical-presentation-and-outcome-analysis-from-urological-perspective
#5
Kunal Kishor Jadhav, Vikash Kumar, Chirag B Punatar, Vinod S Joshi, Sharad N Sagade
PURPOSE: To study clinical presentation, laboratory results, imaging findings and treatment options and outcomes of retroperitoneal fibrosis (RPF). To determine whether it follows the same natural course and response to treatment in the Asian population as in the Western world. MATERIALS AND METHODS: Medical records of patients diagnosed with RPF on imaging and histopathology between February 2010 and April 2016 were reviewed. RESULTS: Of the 21 patients analyzed, mean age at presentation was 50...
September 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28845050/preservation-of-fertility-or-ovarian-function-in-patients-with-breast-cancer-or-gynecologic-and-internal-malignancies
#6
Angrit Stachs, Steffi Hartmann, Bernd Gerber
Because of the efficacy of systemic therapies, neoplasias which occur in pediatric and adolescent patients and in young adults have high cure rates. This means that fulfilling their wish to have children has become a more pressing concern, particularly among young women with malignant tumors. Premature ovarian failure is also a not insignificant problem as it has a lasting detrimental effect on quality of life. Every oncology patient who may potentially wish to have children should be informed about their options for preserving fertility prior to starting treatment...
August 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28811696/relationship-between-fetal-loss-and-serum-gonadal-hormones-level-in-experimental-antiphospholipid-syndrome-mouse
#7
Shanmugam Velayuthaprabhu, Arunachalam Chinnathambi, Sulaiman Ali Alharbi, Hidehiko Matsubayashi, Govindaraju Archunan
To investigate the effects of antiphospholipid antibodies on establishment of pregnancy and changes in hormones such as estradiol-17ß (E2) and progesterone (P) levels in circulation. Hence, mice were immunized with human β2-Glycoprotein I (β2GPI) and the effect of these antibodies on fetuses weight, placental obsrvation, Serum levels of P and E2 in pregnant mice, hematological were observed. Immunization of mice with human β2-GPI resulted in elevated levels of antiphospholipid antibodies. The experimentally induced antiphospholipid syndrome mouse showed higher rate of fetal resorption, low number of viable fetuses, and "placental abnormalities"...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28791047/central-precocious-puberty-and-response-to-gnrha-therapy-in-children-with-cerebral-palsy-and-moderate-to-severe-motor-impairment-data-from-a-longitudinal-case-control-multicentre-italian-study
#8
Patrizia Bruzzi, Maria Francesca Messina, Alessandra Bartoli, Barbara Predieri, Laura Lucaccioni, Simona Filomena Madeo, Alberto Verrotti, Filippo De Luca, Lorenzo Iughetti
BACKGROUND: Children affected by neurodevelopmental disability could experience early pubertal changes at least 20 times more than the general population. Limited data about central precocious puberty (CPP) among children affected by cerebral palsy (CP) are available. METHODS: This is a longitudinal, observational, retrospective, case-control study involving 22 children affected by CPP and CP (group A), 22 paired with CP but without CPP (group B), and 22 children with CPP without CP...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28742509/persistent-m%C3%A3-llerian-duct-syndrome-a-novel-mutation-in-the-%C3%AE-nti-m%C3%A3-llerian-%C3%AE-ormone-gene
#9
Ayça Altincik, Fahri Karaca, Hüseyin Onay
BACKGROUND AND OBJECTIVE: Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT: A 4-month-old male presented with bilateral cryptorchidism and normal external genitalia. The laboratory examination revealed normal gonadotropin levels for his age (FSH: 0...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28735994/kidney-transplantation-using-gonadal-vein-for-venous-anastomosis-in-patients-with-iliac-vein-thrombosis-or-stenosis-a-series-of-cases
#10
J B G de Cerqueira, C M C de Oliveira, B G B Silva, L C O Santos, A G Fernandes, P F C B C Fernandes, E L Maia
BACKGROUND: Kidney transplantation is the treatment of choice for patients with end-stage renal disease. The standard surgery uses the recipient's iliac vessels for vascular anastomosis. Thrombosis and/or stenosis of the iliac vein, which are possible complications of multiple vascular access points for dialysis, can be detected intraoperatively, constituting a surgical challenge. An infrequently reported option is the use of the gonadal vein. OBJECTIVES: This study aims to evaluate the outcomes of venous anastomosis in the gonadal vein in patients with iliac vein thrombosis and/or stenosis submitted to kidney transplantation...
July 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28719979/prevalence-of-protective-shielding-utilization-for-radiation-dose-reduction-in-adult-patients-undergoing-body-scanning-using-computed-tomography
#11
Shoaib Safiullah, Roshan M Patel, Brittany Uribe, Kyle Spradling, Chandana Lall, Lishi Zhang, Zhamshid Okhunov, Ralph Clayman, Jaime Landman
PURPOSE: Ionizing radiation is implicated in nearly 2% of malignancies in the United States; radiation shields prevent unnecessary radiation exposure during medical imaging. Contemporary radiation shield utilization for adult patients in the United States is poorly defined. Therefore, we evaluated the prevalence of protective shielding utilization in adult patients undergoing computed tomography scans in United States' hospitals. METHODS: An online survey was sent to established radiology departments randomly selected from the 2015 American Hospital Association Guide...
July 18, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28713007/future-fertility-for-individuals-with-differences-of-sex-development-parent-attitudes-and-perspectives-about-decision-making
#12
Emilie K Johnson, Ilina Rosoklija, Angela Shurba, Anthony D'Oro, Elisa J Gordon, Diane Chen, Courtney Finlayson, Jane L Holl
BACKGROUND: Children, adolescents, and young adults (children/youth) with differences/disorders of sex development (DSD) face challenges related to future fertility; this may be due to variations in gonadal development, and, for some, gonadectomy performed to reduce the risk of malignancy. Childhood may be the only time for preservation of biological fertility potential for children/youth who undergo gonadectomy or have early gonadal failure. Fertility-related decision-making for these patients is particularly complicated, due to the need for parental proxy decision-making, potential discordance between gender identity and gonadal type, and uncertain future assisted reproductive technologies...
July 3, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28681255/delayed-puberty-and-gonadal-failure-in-patients-with-hax1-mutation
#13
Sukru Cekic, Halil Saglam, Orhan Gorukmez, Tahsin Yakut, Omer Tarim, Sara S Kilic
PURPOSE: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. METHOD: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated...
July 5, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28680137/sexual-and-reproductive-health-in-rheumatic-disease
#14
REVIEW
Monika Østensen
Family size is reduced among patients with rheumatic diseases. The causes for the low number of children are multifactorial and include impaired sexual function, decreased gonadal function, pregnancy loss, therapy and personal choices. Sexuality contributes to quality of life in patients with rheumatic disease, but is often ignored by health professionals. Both disease-related factors and psychological responses to chronic disease can impair sexual functioning. Toxic effects of anti-inflammatory and immunosuppressive drugs can induce transient or permanent gonadal failure in women and men...
August 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28668903/laparoscopically-removed-streak-gonad-revealed-gonadoblastoma-in-frasier-syndrome
#15
Kazunori Hashimoto, Y U Horibe, Jiro Ezaki, Toshiyuki Kanno, Nobuko Takahashi, Yoshika Akizawa, Hideo Matsui, Tomoko Yamamoto, Noriyuki Shibata
BACKGROUND: Frasier syndrome (FS) is characterized by gonadal dysgenesis and progressive nephropathy caused by mutation in the Wilm's tumor gene (WT1). We report a case of FS in which diagnosis was based on amenorrhea with nephropathy, and laparoscopically-removed streak gonad which revealed gonadoblastoma. CASE REPORT: At the age of 3 years, the patient developed nephrotic syndrome. This later became steroid-resistant and, by the age of 16 years, had progressed to end-stage renal failure with peritoneal dialysis...
July 2017: Anticancer Research
https://www.readbyqxmd.com/read/28648844/novel-functions-for-the-rna-binding-protein-etr-1-in-caenorhabditis-elegans-reproduction-and-engulfment-of-germline-apoptotic-cell-corpses
#16
Ruby Boateng, Ken C Q Nguyen, David H Hall, Andy Golden, Anna K Allen
RNA-binding proteins (RBPs) are essential regulators of gene expression that act through a variety of mechanisms to ensure the proper post-transcriptional regulation of their target RNAs. RBPs in multiple species have been identified as playing crucial roles during development and as having important functions in various adult organ systems, including the heart, nervous, muscle, and reproductive systems. ETR-1, a highly conserved ELAV-Type RNA-binding protein belonging to the CELF/Bruno protein family, has been previously reported to be involved in C...
September 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28600501/hatching-enzymes-disrupt-aberrant-gonadal-degeneration-by-the-autophagy-apoptosis-cell-fate-decision
#17
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
#18
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
#19
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
#20
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
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