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https://www.readbyqxmd.com/read/29345162/genetic-defect-of-a-combined-17-%C3%AE-hydroxylase-17-20-lyase-deficiency-patient-with-adrenal-crisis
#1
Yunqiang Zhang, Xuyin Zhang, Yiqun Wang, Keqin Hua, Jingxin Ding
Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy...
January 18, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29334690/intestinal-metabolism-of-polygonum-cuspidatum-in-vitro-and-in-vivo
#2
Jinfeng Fu, Songyan Wu, Min Wang, Yuan Tian, Zunjian Zhang, Rui Song
Rhizoma et Radix Polygoni Cuspidati (RRPC) is commonly prescribed for the treatments of amenorrhea, arthralgia, jaundice and abscess in traditional Chinese medicine. Previous pharmacological studies have indicated that polyphenols are the main pharmacological active ingredients in RRPC. Meanwhile, the poor bioavailability of polyphenols in RRPC implies that those components are probably metabolized by intestinal bacteria before absorption. However, there is rather limited information about RRPC's metabolites produced by intestinal bacteria and the intestinal absorbed constituents...
January 15, 2018: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/29332135/sequential-versus-simultaneous-use-of-chemotherapy-and-gonadotropin-releasing-hormone-agonist-gnrha-among-estrogen-receptor-er-positive-premenopausal-breast-cancer-patients-effects-on-ovarian-function-disease-free-survival-and-overall-survival
#3
Ying Zhang, Yajie Ji, Jianwei Li, Li Lei, Siyu Wu, Wenjia Zuo, Xiaoqing Jia, Yujie Wang, Miao Mo, Na Zhang, Zhenzhou Shen, Jiong Wu, Zhimin Shao, Guangyu Liu
OBJECTIVE: To investigate ovarian function and therapeutic efficacy among estrogen receptor (ER)-positive, premenopausal breast cancer patients treated with gonadotropin-releasing hormone agonist (GnRHa) and chemotherapy simultaneously or sequentially. METHOD: This study was a phase 3, open-label, parallel, randomized controlled trial (NCT01712893). Two hundred sixteen premenopausal patients (under 45 years) diagnosed with invasive ER-positive breast cancer were enrolled from July 2009 to May 2013 and randomized at a 1:1 ratio to receive (neo)adjuvant chemotherapy combined with sequential or simultaneous GnRHa treatment...
January 13, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29332111/prevalence-of-menstrual-problems-and-their-association-with-psychological-stress-in-young-female-students-studying-health-sciences
#4
Nazish Rafique, Mona H Al-Sheikh
To identify the prevalence of various menstrual problems in young females studying health sciences and to identify their association with academic stress. Methods: This was a cross-sectional study, conducted in the health colleges of Immam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia between February 2015 and February 2016. Seven hundred and thirty-eight female students aged 18-25 years anonymously completed menstrual problem identification and perceived stress scale questionnaire. The data was analyzed using the Statistical Package for Social Sciences version 16...
January 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29324534/reproductive-outcomes-after-gestational-trophoblastic-neoplasia-a-comparison-between-single-agent-and-multiagent-chemotherapy-retrospective-analysis-from-the-mito-9-group
#5
Raffaella Cioffi, Alice Bergamini, Angiolo Gadducci, Gennaro Cormio, Veronica Giorgione, Micaela Petrone, Emanuela Rabaiotti, Francesca Pella, Massimo Candiani, Giorgia Mangili
OBJECTIVES: Gestational trophoblastic neoplasia affects women of reproductive age and is usually treated by chemotherapy. Major concerns related to chemotherapy in young women are the possible infertility, risk of early menopause, and teratogenic effects on subsequent pregnancies. The study's aim was to analyze menstrual and reproductive outcomes of women treated with single-agent versus multiagent chemotherapy for gestational trophoblastic neoplasia. METHODS: One-hundred fifty-one patients were treated...
January 10, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29310371/treatment-of-cornual-pregnancy-in-a-patient-with-adenomyosis-by-high-intensity-focused-ultrasound-hifu-ablation-a-case-report
#6
Lixia Yu, Linying Xu, Xiaoyan Xu
RATIONALE: Cornual ectopic pregnancy in adenomyosis patients is a rare clinical condition, which may require careful approach for accurate diagnosis and treatment. PATIENT CONCERNS: A 38-year-old woman presented with amenorrhea for 8 weeks and serum HCG levels of 1455 mmol/L. The B ultrasound showed an endometrial thickness of 1.7 cm, and the presence of a cystic structure (16 6 mm) at the right uterine horn. Color Doppler flow imaging (CDFI) accurately detected and confirmed the position of the cystic structure with its clear boundaries...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29298525/bleeding-pattern-difference-between-levonorgestrel-intrauterine-system-and-copper-intrauterine-devices-inserted-immediately-post-abortion-a-multicenter-prospective-observational-cohort-study-in-chinese-women
#7
Xiaoning Chen, Qianxi Li, Xiaoye Wang, Jing Chen, Wen Lv, Bin Shi, Hong Wang, Jianru Luo, Jian Li
BACKGROUND: To describe the bleeding pattern (primary outcome), side effects, treatment satisfaction, and 6-month continuity rates of 52 mg levonorgestrel-intrauterine system (LNG-IUS) and copper intrauterine device (Cu-IUD) inserted immediately after abortion. METHODS: This multicenter, prospective, observational cohort study enrolled healthy women (aged ≥18 years) inserted with LNG-IUS or Cu-IUD immediately after first-trimester surgical abortion and were followed up to 6 months...
January 3, 2018: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29285373/successful-detection-of-sry-gene-via-fine-needle-biopsy-a-case-of-extragenital-gestational-choriocarcinoma-in-the-kidney
#8
Shunsuke Orisaka, Kyosuke Kagami, Yasunari Mizumoto, Wataru Koda, Masanori Ono, Mitsuhiro Nakamura, Hiroshi Fujiwara
The current report describes a case of extragenital gestational choriocarcinoma in the kidney. A 36-year-old woman with a history of two deliveries of male babies visited the present hospital due to secondary amenorrhea following a positive urinary pregnancy test. Despite a high serum level of human chorionic gonadotropin, at 51,800 mIU/ml, diagnostic imaging methods and pathological examination did not detect any conceptus in the genital tract. Positron emission tomography-computed tomography detected 18F-FDG-positive tumors in the left kidney and right lung...
December 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29280666/-bone-metabolism-in-child-and-adolescent-athletes-a-systematic-review
#9
Marta Rapún López, Hugo Olmedillas, Francisco Pradas de la Fuente, Alba Gómez-Cabello, Alejandro González-Agüero, José Antonio Casajús, Germán Vicente-Rodríguez
BACKGROUND: Physical exercise is beneficial for the prevention of osteoporosis. Bone metabolism markers are the main indicators of metabolic balance and may indicate early risk in bone tissue. AIM: This systematic review aims to summarize and update present knowledge about bone metabolism markers in child and adolescent athletes. METHOD: Literature search was conducted up to March 2017 in PubMed and Sport Discus. A total of 19 studies (case-control, longitudinal and randomized control trials) met the inclusion criteria and were included in the review...
November 16, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29259453/polycystic-ovary-syndrome-early-diagnosis-and-intervention-are-necessary-for-fertility-preservation-in-young-women-with-endometrial-cancer-under-35%C3%A2-years-of-age
#10
Yoshinori Okamura, Fumitaka Saito, Kiyomi Takaishi, Takeshi Motohara, Ritsuo Honda, Takashi Ohba, Hidetaka Katabuchi
Aim: Polycystic ovary syndrome (PCOS) is a significant risk factor for premenopausal endometrial cancer (EC) and/or atypical endometrial hyperplasia (AEH). The aim was to elucidate the clinical background and detailed menstrual history of EC and/or AEH in young women with PCOS. Methods: From January 2001 to December 2013, women under 35 years of age who had been diagnosed with EC and/or AEH and who had been treated at Kumamoto University Hospital, Japan, were recruited...
January 2017: Reproductive Medicine and Biology
https://www.readbyqxmd.com/read/29243847/utility-of-complete-blood-count-parameters-to-detect-premature-ovarian-insufficiency-in-cases-with-oligomenorrhea-amenorrhea
#11
Ilhan Sanverdi, Cetin Kilicci, Ebru Cogendez, Cigdem Abide Yayla, Enis Ozkaya
BACKGROUND: There are very few biomarkers available to diagnose cases with premature ovarian failure. Some complete blood count parameters have been introduced to be diagnostic biomarkers for several disorders associated with inflammatory process. Due to the evidence that indicated chronic inflammatory process to be underlying pathophysiology in premature ovarian insufficiency (POI), we aimed to assess the predictive value of complete blood count parameters for POI diagnosis. METHOD: A total of 96 women diagnosed to have premature ovarian failure were compared with 110 otherwise healthy women in terms of some basal hormone levels and complete blood count parameters...
December 15, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29241916/etiology-and-management-of-primary-amenorrhoea-a-study-of-102-cases-at-tertiary-centre
#12
Alka Kriplani, Manu Goyal, Garima Kachhawa, Reeta Mahey, Vidushi Kulshrestha
OBJECTIVE: To determine the prevalence of etiologic causes of primary amenorrhea in Indian population. MATERIALS AND METHODS: A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the Gynaecologic Endocrinology Clinic, Department of Obstetrics and Gynaecology, AIIMS, New Delhi from September 2012 to September 2015. Cases were analysed according to clinical profile, development of secondary sexual characteristics, physical examination, pelvic and rectal examination, X-ray of chest and lumbo-sacral spine, hormone profile, pelvic USG, MRI, and cytogenetic study including karyotype...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29240891/primary-ovarian-insufficiency-and-azospermia-in-carriers-of-a-homozygous-psmc3ip-stop-gain-mutation
#13
Abdulmoein Eid Al-Agha, Ihab Abdulhamed Ahmed, Esther Nuebel, Mika Moriwaki, Barry Moore, Katherine A Peacock, Tim Mosbruger, Deborah W Neklason, Lynn B Jorde, Mark Yandell, Corrine K Welt
Context: The etiology of primary ovarian insufficiency (POI) remains unknown in a majority of cases. Objective: We sought to identify genes causing POI. Design: The study was a familial genetic study. Setting: The study was performed in two academic institutions. Patients: We identified a consanguineous Yemeni family in which 4 daughters had POI. A brother had azoospermia. Intervention: DNA was subjected to whole genome sequencing...
December 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29233731/do-different-diagnostic-criteria-cause-impact-polycystic-ovary-syndrome-diagnosis-for-adolescents
#14
Sinem Akgül, Yasemin Düzçeker, Nuray Kanbur, Orhan Derman
OBJECTIVE: While early diagnosis of polycystic ovary syndrome (PCOS) in adolescents may allow for earlier treatment and prevention of chronic disorders, incorrect or premature diagnosis carries risks of unnecessary treatment and psychological distress. There is no consensus concerning which diagnostic criteria to use for adolescents and current criteria vary. The objective of this study was to determine whether using different diagnostic criteria will affect PCOS diagnosis in adolescents...
December 9, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29232904/an-expanded-multi-organ-disease-phenotype-associated-with-mutations-in-yars
#15
Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, Deborah Nickerson, Michael J Bamshad, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P M Cremers, Lisbeth Tranebjærg
Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease...
December 11, 2017: Genes
https://www.readbyqxmd.com/read/29231439/-professor-lai-xinsheng-s-clinical-experience-in-the-treatment-of-premature-ovarian-failure-with-tongyuan-acupuncture-technique-and-chinese-herbal-medicine
#16
Xiaozhe Li, Sujuan Zhang
In the treatment of premature ovarian failure (POF), professor LAI Xinsheng focuses on the determination of syndrome to seek for etiology, associating with the differentiation of meridian and collateral and that of zangfu organs. Professor LAI believes that POF is mainly manifested as amenorrhea and infertility, localized in the kidney, with the dysfunction of liver, spleen and heart. It is impacted by many pathological factors, such as cold blockage, qi stagnation, blood stagnation, blood deficiency, yin deficiency, etc...
March 12, 2017: Zhongguo Zhen Jiu, Chinese Acupuncture & Moxibustion
https://www.readbyqxmd.com/read/29218679/possibility-of-women-treated-with-fertility-sparing-surgery-for-non-epithelial-ovarian-tumors-to-safely-and-successfully-become-pregnant-a-chinese-retrospective-cohort-study-among-148-cases
#17
Bin Yang, Yan Yu, Jing Chen, Yan Zhang, Ye Yin, Nan Yu, Ge Chen, Shifei Zhu, Haiyan Huang, Yongqun Yuan, Jihui Ai, Xinyu Wang, Kezhen Li
This study was performed to evaluate the oncological and reproductive outcomes of childbearing-age women treated with fertility-sparing surgery (FSS) for non-epithelial ovarian tumors in China. One hundred and forty eight non-epithelial ovarian tumor women treated with FSS between January 1, 2000 and August 31, 2015 from two medical centers in China were identified. Progression-free survival (PFS) was 88.5%, whereas overall survival (OS) was 93.9%. Univariate analysis suggested that delivery after treatment is related to PFS (P = 0...
December 7, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/29216361/gnrh-receptor-antagonist-mono-and-combination-therapy-with-e2-neta-add-back-pharmacodynamics-and-safety-of-obe2109
#18
Oliver Pohl, Line Marchand, Neil Fawkes, Jean-Pierre Gotteland, Ernest Loumaye
Context: OBE2109 is a novel, potent, oral gonadotropin-releasing hormone receptor antagonist being developed for the treatment of sex-hormone-dependent diseases in women. Objective: We assessed the pharmacodynamics and safety of OBE2109 alone and combined with estradiol(E2)/norethindrone acetate(NETA) add-back therapy on E2 levels and vaginal bleeding. Design, Setting, and Participants: This was a single-center, open-label, randomized, parallel-group study in 76 healthy premenopausal women with regular menstrual cycles...
December 4, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29209375/association-of-anxiety-depression-and-somatization-with-menstrual-problems-among-north-korean-women-defectors-in-south-korea
#19
Hyun Kyoung Kim, Hee Sook Kim, Seog Ju Kim
Objective: North Korean women defectors have suffered from anxiety, depression, and somatization after defection. Also they have had many menstrual problems like amenorrhea. This study was done to identify the correlations of anxiety, depression, and somatization to menstrual problems among North Korean woman defectors in South Korea. Methods: The participants in this study were 126 women from 5 government resettlement centers throughout South Korea. Questionnaires which included State-Trait Anxiety Inventory (STAI), Center for Epidemiological studies-Depression Scale (CED-S), and Symptom Checklist-90-Revised (SCL-90-R) were used to identify anxiety and somatization...
November 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/29205794/biallelic-mutations-in-lars2-can-cause-perrault-syndrome-type-2-with-neurologic-symptoms
#20
Rika Kosaki, Reiko Horikawa, Eriko Fujii, Kenjiro Kosaki
Perrault syndrome represents a genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and ovarian dysfunction in females. Causative genes include HARS2, HSD17B4, CLPP, C10orf2, and LARS2. Some patients with Perrault syndrome exhibit neurologic features including learning disability, cerebellar ataxia, and peripheral neuropathy and are classified as type 2 and are clinically separate from those without neurological symptoms other than a hearing loss (type 1). To date, all reported patients with LARS2 mutations (15 patients in 8 families) have been classified as type 1...
December 3, 2017: American Journal of Medical Genetics. Part A
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